diff --git "a/medquad_val.csv" "b/medquad_val.csv" new file mode 100644--- /dev/null +++ "b/medquad_val.csv" @@ -0,0 +1,1917 @@ +sample,question,answer +12469,Are there interactions between Senna and herbs and supplements ?, +22236,How to diagnose Transposition of the great vessels ?, +39555,What are the side effects or risks of Torsemide Oral ?, +39679,What to do in case of emergency or overdose of Dactinomycin ?, +39295,What other information should I know about Clindamycin and Benzoyl Peroxide Topical ?, +26657,How to prevent Focal segmental glomerulosclerosis ?, +6357,"What are the symptoms of Larynx, congenital partial atresia of ?","What are the signs and symptoms of Larynx, congenital partial atresia of? The Human Phenotype Ontology provides the following list of signs and symptoms for Larynx, congenital partial atresia of. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the voice 90% Laryngomalacia 90% Recurrent respiratory infections 90% Respiratory insufficiency 90% Short stature 50% Autosomal dominant inheritance - Laryngeal obstruction - Laryngeal web - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common." +13435,Who is at risk for Cardiomyopathy? ?,"People of all ages and races can have cardiomyopathy. However, certain types of the disease are more common in certain groups. + +Dilated cardiomyopathy is more common in African Americans than Whites. This type of the disease also is more common in men than women. + +Teens and young adults are more likely than older people to have arrhythmogenic right ventricular dysplasia, although it's rare in both groups. + +Major Risk Factors + +Certain diseases, conditions, or factors can raise your risk for cardiomyopathy. Major risk factors include: + +A family history of cardiomyopathy, heart failure, or sudden cardiac arrest (SCA) + +A disease or condition that can lead to cardiomyopathy, such as coronary heart disease, heart attack, or a viral infection that inflames the heart muscle + +Diabetes or other metabolic diseases, or severe obesity + +Diseases that can damage the heart, such as hemochromatosis, sarcoidosis, or amyloidosis + +Long-term alcoholism + +Long-term high blood pressure + +Some people who have cardiomyopathy never have signs or symptoms. Thus, it's important to identify people who may be at high risk for the disease. This can help prevent future problems, such as serious arrhythmias (irregular heartbeats) or SCA." +3946,How many people are affected by cri-du-chat syndrome ?,"Cri-du-chat syndrome occurs in an estimated 1 in 20,000 to 50,000 newborns. This condition is found in people of all ethnic backgrounds." +495,What is (are) fibrodysplasia ossificans progressiva ?,"Fibrodysplasia ossificans progressiva (FOP) is a disorder in which muscle tissue and connective tissue such as tendons and ligaments are gradually replaced by bone (ossified), forming bone outside the skeleton (extra-skeletal or heterotopic bone) that constrains movement. This process generally becomes noticeable in early childhood, starting with the neck and shoulders and proceeding down the body and into the limbs. Extra-skeletal bone formation causes progressive loss of mobility as the joints become affected. Inability to fully open the mouth may cause difficulty in speaking and eating. Over time, people with this disorder may experience malnutrition due to their eating problems. They may also have breathing difficulties as a result of extra bone formation around the rib cage that restricts expansion of the lungs. Any trauma to the muscles of an individual with fibrodysplasia ossificans progressiva, such as a fall or invasive medical procedures, may trigger episodes of muscle swelling and inflammation (myositis) followed by more rapid ossification in the injured area. Flare-ups may also be caused by viral illnesses such as influenza. People with fibrodysplasia ossificans progressiva are generally born with malformed big toes. This abnormality of the big toes is a characteristic feature that helps to distinguish this disorder from other bone and muscle problems. Affected individuals may also have short thumbs and other skeletal abnormalities." +41020,How should Lapatinib be used and what is the dosage ?, +23465,What is the outlook for Depression - older adults ?, +3524,What are the treatments for retinitis pigmentosa ?,These resources address the diagnosis or management of retinitis pigmentosa: - American Foundation for the Blind: Living with Vision Loss - Foundation Fighting Blindness: Treatment of Retinitis Pigmentosa - Gene Review: Gene Review: Retinitis Pigmentosa Overview - Genetic Testing Registry: Retinitis pigmentosa - RP Fighting Blindness: Treatment of Retinitis Pigmentosa These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care +19438,What are the complications of Membranoproliferative glomerulonephritis ?, +31644,What causes Nausea and vomiting - adults ?, +34359,What are the complications of Alagille Syndrome ?,"The complications of Alagille syndrome include liver failure, portal hypertension, and growth problems. People with Alagille syndrome usually have a combination of complications, and may not have every complication listed below. + +Liver failure. Over time, the decreased number of bile ducts may lead to chronic liver failure, also called end-stage liver disease. This condition progresses over months, years, or even decades. The liver can no longer perform important functions or effectively replace damaged cells. A person may need a liver transplant. A liver transplant is surgery to remove a diseased or an injured liver and replace it with a healthy whole liver or a segment of a liver from another person, called a donor. + +Portal hypertension. The spleen is the organ that cleans blood and makes white blood cells. White blood cells attack bacteria and other foreign cells. Blood flow from the spleen drains directly into the liver. When a person with Alagille syndrome has advanced liver disease, the blood flow backs up into the spleen and other blood vessels. This condition is called portal hypertension. The spleen may become larger in the later stages of liver disease. A person with an enlarged spleen should avoid contact sports to protect the organ from injury. Advanced portal hypertension can lead to serious bleeding problems. + +Growth problems. Alagille syndrome can lead to poor growth in infants and children, as well as delayed puberty in older children. Liver disease can cause malabsorption, which can result in growth problems. Malabsorption is the inability of the small intestine to absorb nutrients from foods, which results in protein, calorie, and vitamin deficiencies. Serious heart problems, if present in Alagille syndrome, can also affect growth. + +Malabsorption. People with Alagille syndrome may have diarrhealoose, watery stoolsdue to malabsorption. The condition occurs because bile is necessary for the digestion of food. Malabsorption can lead to bone fractures, eye problems, blood-clotting problems, and learning delays. + +Long-term Outlook + +The long-term outlook for people with Alagille syndrome depends on several factors, including the severity of liver damage and heart problems. Predicting who will experience improved bile flow and who will progress to chronic liver failure is difficult. Ten to 30 percent of people with Alagille syndrome will eventually need a liver transplant.3 + +Many adults with Alagille syndrome whose symptoms improve with treatment lead normal, productive lives. Deaths in people with Alagille syndrome are most often caused by chronic liver failure, heart problems, and blood vessel problems." +22819,What are the treatments for Gonorrhea ?, +33124,What is (are) Acinetobacter in Healthcare Settings ?,"Acinetobacter [asz−in−ée−toe–back−ter] is a group of bacteria commonly found in soil and water. While there are many types or “species” of Acinetobacter and all can cause human disease, Acinetobacter baumannii [asz−in−ée−toe–back−ter boe-maa-nee-ie] accounts for about 80% of reported infections. + +Outbreaks of Acinetobacter infections typically occur in intensive care units and healthcare settings housing very ill patients. Acinetobacter infections rarely occur outside of healthcare settings." +40695,What are the side effects or risks of Tacrolimus Injection ?, +37688,What to do in case of a severe reaction to Hepatitis A Vaccine ?, +32843,Do I need to see a doctor for Chronic inflammatory polyneuropathy ?, +7388,What is (are) Progressive pseudorheumatoid arthropathy of childhood ?,"Progressive pseudorheumatoid arthropathy of childhood (PPAC) is a disorder of bone and cartilage that affects many joints. Major signs and symptoms include stiff joints (contractures), short stature, and widening of the ends of the finger and toe bones as well as other tubular bones. PPAC may initially be mistaken for juvenile rheumatoid arthritis, however people with this condition do not have the laboratory test results of juvenile rheumatoid arthritis. PPAC is caused by a mutation in the WISP3 gene and is inherited in an autosomal recessive pattern. People with PPAC typically need joint replacement surgery at an early age. Other forms of spondyloepiphyseal dysplasia tarda include: X-linked spondyloepiphyseal dysplasia tarda Autosomal dominant spondyloepiphyseal dysplasia tarda Spondyloepiphyseal dysplasia tarda Toledo type" +29725,What to do for Estrogen overdose ?, +46293,What special dietary instructions should I follow with Bisoprolol ?, +4588,Is C3 glomerulopathy inherited ?,"Most cases of C3 glomerulopathy are sporadic, which means they occur in people with no history of the disorder in their family. Only a few reported families have had more than one family member with C3 glomerulopathy. However, many affected people have had close relatives with autoimmune diseases, which occur when the immune system malfunctions and attacks the body's tissues and organs. The connection between C3 glomerulopathy and autoimmune diseases is not fully understood." +16733,What are the complications of Type 1 diabetes ?, +23242,What is the outlook for Skeletal limb abnormalities ?, +21446,Do you have information about Circumcision, +6770,Is Poland syndrome inherited ?,"Is Poland syndrome inherited? Poland syndrome is rarely inherited and generally sporadic. Sporadic refers to the chance occurrence of a non-genetic disorder or abnormality that is not likely to recur in a family. In the few reported familial cases, researchers suggest that the condition may have stemmed from an inherited susceptibility to events such as interruption of blood flow that may predispose a person to the anomaly (i.e., make a person more likely to develop the anomaly)." +25280,How to prevent Ovarian hyperstimulation syndrome ?, +32205,What is the outlook for Psoriasis - guttate ?, +38275,What other information should I know about Naproxen ?, +30334,What are the symptoms of Benzene poisoning ?, +2249,What are the treatments for deafness and myopia syndrome ?,These resources address the diagnosis or management of deafness and myopia syndrome: - Baby's First Test: Hearing Loss - EyeSmart: Eyeglasses for Vision Correction - Gene Review: Gene Review: Deafness and Myopia Syndrome - Harvard Medical School Center for Hereditary Deafness - KidsHealth: Hearing Evaluation in Children - MedlinePlus Encyclopedia: Cochlear Implant - MedlinePlus Health Topic: Cochlear Implants - MedlinePlus Health Topic: Hearing Aids - MedlinePlus Health Topic: Newborn Screening These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care +24737,Do I need to see a doctor for Clubfoot ?, +22676,How to diagnose High blood pressure and eye disease ?, +26998,Do I need to see a doctor for Cancer - renal pelvis or ureter ?, +40813,What should I do if I forget a dose of Tedizolid ?, +32694,What causes Alzheimer disease ?, +9618,What are the symptoms of Hennekam syndrome ?,"What are the signs and symptoms of Hennekam syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hennekam syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal facial shape 90% Abnormality of dental morphology 90% Cognitive impairment 90% Decreased antibody level in blood 90% Delayed eruption of teeth 90% Depressed nasal bridge 90% External ear malformation 90% Hypertelorism 90% Increased number of teeth 90% Low-set, posteriorly rotated ears 90% Lymphangioma 90% Lymphedema 90% Lymphopenia 90% Malabsorption 90% Malar flattening 90% Reduced number of teeth 90% Abnormality of the genital system 50% Ascites 50% Broad forehead 50% Epicanthus 50% Erysipelas 50% Gingival overgrowth 50% Lymphadenopathy 50% Narrow chest 50% Recurrent respiratory infections 50% Seizures 50% Splenomegaly 50% Abnormal localization of kidney 7.5% Abnormality of neuronal migration 7.5% Abnormality of the foot 7.5% Abnormality of the pericardium 7.5% Abnormality of the pleura 7.5% Arteriovenous malformation 7.5% Benign neoplasm of the central nervous system 7.5% Camptodactyly of finger 7.5% Conductive hearing impairment 7.5% Craniosynostosis 7.5% Finger syndactyly 7.5% Glaucoma 7.5% Hydrops fetalis 7.5% Hypocalcemia 7.5% Narrow mouth 7.5% Pyloric stenosis 7.5% Respiratory insufficiency 7.5% Short philtrum 7.5% Atria septal defect - Autosomal recessive inheritance - Bilateral single transverse palmar creases - Camptodactyly - Conical incisor - Coronal craniosynostosis - Cryptorchidism - Cutaneous finger syndactyly - Delayed skeletal maturation - Ectopic kidney - Flat face - Hirsutism - Horseshoe kidney - Hydronephrosis - Hyperactivity - Hypoalbuminemia - Hypoplastic iliac wing - Intellectual disability - Intestinal lymphangiectasia - Joint contracture of the hand - Low-set ears - Mild postnatal growth retardation - Narrow palate - Oligodontia - Pachygyria - Pectus excavatum - Pericardial effusion - Pericardial lymphangiectasia - Periorbital edema - Pleural effusion - Pleural lymphangiectasia - Protein-losing enteropathy - Rectal prolapse - Retrognathia - Scoliosis - Sensorineural hearing impairment - Short foot - Short palm - Small hand - Smooth philtrum - Spina bifida occulta - Talipes equinovarus - Thyroid lymphangiectasia - Umbilical hernia - Ventricular septal defect - Vesicoureteral reflux - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common." +24076,What are the complications of Prader-Willi syndrome ?, +30658,What are the symptoms of Imperforate anus ?, +33782,What to do for Gallstones ?,"Factors related to eating, diet, and nutrition that increase the risk of gallstones include + +- obesity - rapid weight loss - diets high in calories and refi ned carbohydrates and low in fi ber + +People can decrease their risk of gallstones by maintaining a healthy weight through proper diet and nutrition. + +Ursodiol can help prevent gallstones in people who rapidly lose weight through low-calorie diets or bariatric surgery. People should talk with their health care provider or dietitian about what diet is right for them." +18902,What is the outlook for Thrombocytopenia ?, +6815,How to diagnose Cowden syndrome ?,"How is Cowden syndrome diagnosed? A diagnosis of Cowden syndrome is based on the presence of characteristic signs and symptoms. Genetic testing for a change (mutation) in the PTEN gene can then be ordered to confirm the diagnosis. If a mutation in PTEN is not identified, genetic testing for the other genes known to cause Cowden syndrome can be considered. GeneReviews offers more detailed information regarding the diagnosis of Cowden syndrome including the clinical diagnostic criteria. Click here to view this resource. The PTEN Cleveland Clinic Risk Calculator can be used to estimate the chance of finding a PTEN mutation in children and adults with signs and symptoms of Cowden syndrome. Is genetic testing available for Cowden syndrome? Yes, genetic testing is available for many of the genes known to cause Cowden syndrome. Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional." +36671,How should Brompheniramine be used and what is the dosage ?, +41354,What important warning or information should I know about Tipranavir ?, +28772,How to diagnose Thyroid nodule ?, +40626,What other information should I know about Lubiprostone ?, +6443,What are the symptoms of Pityriasis rubra pilaris ?,"What are the signs and symptoms of Pityriasis rubra pilaris? Features of this condition vary greatly between affected individuals. The onset is gradual in the familial type and can be more rapid in the acquired type. Redness and scaling of the face and scalp are often seen first, followed by redness and thickening of the palms and soles. Overall, the elbows, knees, backs of the hands and feet, and ankles are most commonly affected. A more widespread eruption consisting of scaling orange-red plaques can be observed on the trunk and extremities. The lesions may expand and coalesce and eventually cover the entire body. When the disease becomes widespread, the nails, mucous membranes and eyes may be affected. The familial type often persists throughout life, but the acquired form may have periods of remission (periods of time where symptoms improve or completely resolve). The Human Phenotype Ontology provides the following list of signs and symptoms for Pityriasis rubra pilaris. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Irregular hyperpigmentation 90% Palmoplantar keratoderma 90% Abnormality of the fingernails 50% Pruritus 50% Abnormality of the oral cavity 7.5% Eczema 7.5% Ichthyosis 7.5% Lichenification 7.5% Neoplasm 7.5% Pustule 7.5% Autosomal dominant inheritance - Subungual hyperkeratosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common." +8877,How to diagnose Polymyositis ?,"How is polymyositis diagnosed? A diagnosis of polymyositis is often suspected in people with proximal muscle weakness and other associated signs and symptoms. Additional testing can then be ordered to confirm the diagnosis and rule out other conditions that may cause similar features. This testing may include: Blood tests to measure the levels of certain muscle enzymes (i.e. creatine kinase and aldolase) and detect specific autoantibodies associated with different symptoms of polymyositis Electromyography to check the health of the muscles and the nerves that control them Imaging studies such as an MRI scan to detect muscle inflammation A muscle biopsy to diagnose muscle abnormalities such as inflammation, damage and/or infection Medscape Reference's Web site offers more specific information regarding the treatment and management of polymyositis. Please click on the link to access this resource." +32743,Do I need to see a doctor for Alcoholic liver disease ?, +42586,What should I do if I forget a dose of Maprotiline ?, +37132,Who should get Indomethacin and why is it prescribed ?, +9045,What is (are) Scleroderma ?,"Scleroderma is an autoimmune disorder that involves changes in the skin, blood vessels, muscles, and internal organs. There are two main types: localized scleroderma, which affects only the skin; and systemic scleroderma, which affects the blood vessels and internal organs, as well as the skin. These two main types also have different sub-types. Localized scleroderma can be divided in: Linear scleroderma (en coup de sabre) Morphea (localized, generalized, guttata and deep). Systemic scleroderma is subdivided in: Diffuse cutaneous systemic sclerosis Limited cutaneous systemic sclerosis (which includes CREST syndrome) Limited Systemic Sclerosis (or systemic sclerosis sine scleroderm). There are also cases of environmentally-induced scleroderma and cases where scleroderma is part of other rheumatic disorders, like rheumatoid arthritis, lupus or Sjogren syndrome. The underlying cause of scleroderma is currently unknown; however, some scientists suspect that it may be related to a buildup of collagen in the skin and other organs due to an abnormal immune system response. There is no cure, but various treatments can relieve symptoms." +42947,Are there safety concerns or special precautions about Tinidazole ?, +20699,What is (are) Varicose veins and venous insufficiency ?, +7634,What is (are) Amyopathic dermatomyositis ?,"Amyopathic dermatomyositis is a form of dermatomyositis characterized by the presence of typical skin findings without muscle weakness. Some of the skin changes that suggest dermatomyositis include a pink rash on the face, neck, forearms and upper chest; Gottron's papules and heliotrope eyelids. Pruritis and photosensitivity are common, as is scalp inflammation and thinning of the hair. While patients with amyopathic dermatomyositis should not have clinically evident muscle weakness, minor muscle abnormalities may be included. Fatigue is reported in at least 50% of patients. Some cases have been associated with internal malignancy and/or interstitial lung disease. Treatment may include sun avoidance, ample use of sunscreen, topical corticosteroids, antimalarial agents, methotrexate, mycophenolate mofetil, or intravenous (IV) immunoglobulin." +17026,What are the treatments for Pulmonary edema ?, +44094,What should I do if I forget a dose of Secobarbital ?, +45667,What are the brand names of Gefitinib ?, +25962,Who is at risk for Campylobacter serology test? ?, +32237,Do I need to see a doctor for Seborrheic dermatitis ?, +3744,What are the treatments for megalencephalic leukoencephalopathy with subcortical cysts ?,"These resources address the diagnosis or management of megalencephalic leukoencephalopathy with subcortical cysts: - Gene Review: Gene Review: Megalencephalic Leukoencephalopathy with Subcortical Cysts - Genetic Testing Registry: Megalencephalic leukoencephalopathy with subcortical cysts - Genetic Testing Registry: Megalencephalic leukoencephalopathy with subcortical cysts 1 - Genetic Testing Registry: Megalencephalic leukoencephalopathy with subcortical cysts 2a - Genetic Testing Registry: Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation - MedlinePlus Encyclopedia: Myelin These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care" +27857,What are the treatments for Color blindness ?, +20176,Do I need to see a doctor for Skiers thumb - aftercare ?, +14806,Do you have information about Exercise for Seniors,"Summary : Exercise and physical activity are good for just about everyone, including older adults. There are four main types and each type is different. Doing them all will give you more benefits. - Endurance, or aerobic, activities increase your breathing and heart rate. Brisk walking or jogging, dancing, swimming, and biking are examples. - Strength exercises make your muscles stronger. Lifting weights or using a resistance band can build strength. - Balance exercises help prevent falls - Flexibility exercises stretch your muscles and can help your body stay limber NIH: National Institute on Aging" +3427,"What are the genetic changes related to hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ?","Mutations in the COL4A1 gene cause HANAC syndrome. The COL4A1 gene provides instructions for making one component of a protein called type IV collagen. Type IV collagen molecules attach to each other to form complex protein networks. These protein networks are the main component of basement membranes, which are thin sheet-like structures that separate and support cells in many tissues. Type IV collagen networks play an important role in the basement membranes in virtually all tissues throughout the body, particularly the basement membranes surrounding the body's blood vessels (vasculature). The COL4A1 gene mutations that cause HANAC syndrome result in the production of a protein that disrupts the structure of type IV collagen. As a result, type IV collagen molecules cannot attach to each other to form the protein networks in basement membranes. Basement membranes without these networks are unstable, leading to weakening of the tissues that they surround. In people with HANAC syndrome, the vasculature and other tissues within the kidneys, brain, muscles, eyes, and throughout the body weaken." +909,What are the treatments for osteoporosis-pseudoglioma syndrome ?,These resources address the diagnosis or management of osteoporosis-pseudoglioma syndrome: - Genetic Testing Registry: Osteoporosis with pseudoglioma - Lucile Packard Children's Hospital at Stanford: Juvenile Osteoporosis - MedlinePlus Encyclopedia: Bone Mineral Density Test - Merck Manual Home Health Edition: Osteoporosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care +26490,What is (are) Endometrial cancer ?, +17659,What is the outlook for Metastatic brain tumor ?, +36053,What to do in case of emergency or overdose of Guanabenz ?, +17129,How to diagnose Psychosis ?, +24665,How to diagnose Vernal conjunctivitis ?, +25229,What are the symptoms of Diazinon poisoning ?, +1496,How many people are affected by mitochondrial trifunctional protein deficiency ?,Mitochondrial trifunctional protein deficiency is a rare disorder; its incidence is unknown. +17902,What is the outlook for Brucellosis ?, +43691,Who should get Estrogen and Progestin (Hormone Replacement Therapy) and why is it prescribed ?, +44313,What special dietary instructions should I follow with Mycophenolate ?, +41173,What to do in case of emergency or overdose of Erythromycin Ophthalmic ?, +23911,What is (are) Gonococcal arthritis ?, +3163,Is pulmonary alveolar microlithiasis inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition." +37550,How should Pindolol be used and what is the dosage ?, +3899,What are the treatments for myotonia congenita ?,"These resources address the diagnosis or management of myotonia congenita: - Gene Review: Gene Review: Myotonia Congenita - Genetic Testing Registry: Congenital myotonia, autosomal dominant form - Genetic Testing Registry: Congenital myotonia, autosomal recessive form - Genetic Testing Registry: Myotonia congenita - MedlinePlus Encyclopedia: Myotonia congenita These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care" +733,Is progressive supranuclear palsy inherited ?,"Most cases of progressive supranuclear palsy are sporadic, which means they occur in people with no history of the disorder in their family. However, some people with this disorder have had family members with related conditions, such as parkinsonism and a loss of intellectual functions (dementia). When progressive supranuclear palsy runs in families, it can have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of an altered gene in each cell is sufficient to cause the disorder." +28351,What is (are) Diarrhea in infants ?, +12415,What is the dosage of Saccharomyces boulardii ?, +19218,What are the symptoms of Drug-induced pulmonary disease ?, +20654,What is (are) Skull fracture ?, +21199,What is the outlook for Trisodium phosphate poisoning ?, +31660,How to diagnose Cholangitis ?, +12930,What are the symptoms of Rectal Cancer ?,"Signs of rectal cancer include a change in bowel habits or blood in the stool. These and other signs and symptoms may be caused by rectal cancer or by other conditions. Check with your doctor if you have any of the following: - Blood (either bright red or very dark) in the stool. - A change in bowel habits. - Diarrhea. - Constipation. - Feeling that the bowel does not empty completely. - Stools that are narrower or have a different shape than usual. - General abdominal discomfort (frequent gas pains, bloating, fullness, or cramps). - Change in appetite. - Weight loss for no known reason. - Feeling very tired." +7164,What are the symptoms of Camptodactyly syndrome Guadalajara type 3 ?,"What are the signs and symptoms of Camptodactyly syndrome Guadalajara type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Camptodactyly syndrome Guadalajara type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pinna - Absent phalangeal crease - Autosomal dominant inheritance - Camptodactyly - Delayed skeletal maturation - Flat face - Hypertelorism - Intellectual disability, mild - Joint contracture of the hand - Malar flattening - Micropenis - Muscular hypotonia - Nevus - Retrognathia - Short neck - Small hypothenar eminence - Small thenar eminence - Spina bifida occulta - Telecanthus - Torticollis - Webbed neck - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common." +11059,what research (or clinical trials) is being done for Aicardi Syndrome ?,"The NINDS supports and conducts research on neurogenetic disorders such as Aicardi syndrome. The goals of this research are to locate and understand the genes involved and to develop techniques to diagnose, treat, prevent, and ultimately cure disorders such as Aicardi syndrome." +34300,What to do for What I need to know about My Child's Urinary Tract Infection ?,"- A urinary tract infection (UTI) is an infection in the urinary tract. Infections are caused by microbesorganisms too small to be seen without a microscope. - Most UTIs are caused by bacteria that live in the bowel, the part of the digestive tract where stool is changed from liquid to solid. - Any child can get a UTI, though girls get UTIs more often than boys. - Most UTIs are not serious, but some infections can lead to serious problems. - A child with a UTI may not have any symptoms. When symptoms are present, they can range from mild to severe. - A UTI is diagnosed by testing a sample of your childs urine. - Bacteria-fighting medicines called antibiotics are used to treat a UTI. - Talk with your childs health care provider after your childs UTI is gone. The health care provider may want to do more tests to check for vesicoureteral reflux (VUR) or a blockage in the urinary tract. - You can take steps to help prevent your child from getting a UTI." +43152,What should I know about storage and disposal of Aspirin and Extended-Release Dipyridamole ?, +31555,Do I need to see a doctor for Neuroblastoma ?, +10748,What are the symptoms of Congenital alopecia X-linked ?,"What are the signs and symptoms of Congenital alopecia X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital alopecia X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eye 90% Abnormality of the skin 90% Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% Hypotrichosis - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common." +22027,What is (are) Osteonecrosis ?, +13368,What are the treatments for Breast Cancer ?,"Key Points + - Treatment options for pregnant women depend on the stage of the disease and the age of the unborn baby. - Three types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Ending the pregnancy does not seem to improve the mothers chance of survival. - Treatment for breast cancer may cause side effects. + + + Treatment options for pregnant women depend on the stage of the disease and the age of the unborn baby. + + + + Three types of standard treatment are used: + Surgery Most pregnant women with breast cancer have surgery to remove the breast. Some of the lymph nodes under the arm may be removed and checked under a microscope for signs of cancer. Types of surgery to remove the cancer include: - Modified radical mastectomy: Surgery to remove the whole breast that has cancer, many of the lymph nodes under the arm, the lining over the chest muscles, and sometimes, part of the chest wall muscles. This type of surgery is most common in pregnant women. - Breast-conserving surgery: Surgery to remove the cancer and some normal tissue around it, but not the breast itself. Part of the chest wall lining may also be removed if the cancer is near it. This type of surgery may also be called lumpectomy, partial mastectomy, segmental mastectomy, quadrantectomy, or breast-sparing surgery. Even if the doctor removes all of the cancer that can be seen at the time of surgery, the patient may be given radiation therapy or chemotherapy after surgery to try to kill any cancer cells that may be left. For pregnant women with early-stage breast cancer, radiation therapy and hormone therapy are given after the baby is born. Treatment given after surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External radiation therapy is not given to pregnant women with early stage (stage I or II) breast cancer because it can harm the unborn baby. For women with late stage (stage III or IV) breast cancer, radiation therapy is not given during the first 3 months of pregnancy and is delayed until after the baby is born, if possible. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping the cells from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. Chemotherapy is usually not given during the first 3 months of pregnancy. Chemotherapy given after this time does not usually harm the unborn baby but may cause early labor and low birth weight. See Drugs Approved for Breast Cancer for more information. + + + Ending the pregnancy does not seem to improve the mothers chance of survival. + Because ending the pregnancy is not likely to improve the mothers chance of survival, it is not usually a treatment option. + + + Treatment for breast cancer may cause side effects. + For information about side effects caused by treatment for cancer, see our Side Effects page. + + + Treatment Options by Stage + + + Early Stage Breast Cancer (Stage I and Stage II) + Treatment of early-stage breast cancer (stage I and stage II) may include the following: - Modified radical mastectomy. - Breast-conserving surgery followed by radiation therapy. In pregnant women, radiation therapy is delayed until after the baby is born. - Modified radical mastectomy or breast-conserving surgery during pregnancy followed by chemotherapy after the first 3 months of pregnancy. + + + Late Stage Breast Cancer (Stage III and Stage IV) + Treatment of late-stage breast cancer (stage III and stage IV) may include the following: - Radiation therapy. - Chemotherapy. Radiation therapy and chemotherapy should not be given during the first 3 months of pregnancy." +16754,How to prevent Dengue fever ?, +37975,What are the brand names of Baclofen Oral ?, +33861,What are the complications of Childhood Nephrotic Syndrome ?,"The complications of childhood nephrotic syndrome may include + +- infection. When the kidneys are damaged, a child is more likely to develop infections because the body loses proteins that normally protect against infection. Health care providers will prescribe medications to treat infections. Children with childhood nephrotic syndrome should receive the pneumococcal vaccine and yearly flu shots to prevent those infections. Children should also receive age-appropriate vaccinations, although a health care provider may delay certain live vaccines while a child is taking certain medications. - blood clots. Blood clots can block the flow of blood and oxygen through a blood vessel anywhere in the body. A child is more likely to develop clots when he or she loses proteins through the urine. The health care provider will treat blood clots with blood-thinning medications. - high blood cholesterol. When albumin leaks into the urine, the albumin levels in the blood drop. The liver makes more albumin to make up for the low levels in the blood. At the same time, the liver makes more cholesterol. Sometimes children may need treatment with medications to lower blood cholesterol levels." +47130,What to do in case of emergency or overdose of Valsartan ?, +6839,What is (are) Good syndrome ?,"Good syndrome is a rare, adult-onset primary immunodeficiency suspected in patients who exhibit hypogammaglobulinemia and low levels of B cells along with a benign thymic tumor (thymoma) on chest X-ray. Symptoms include frequent opportunistic infections involving the sinuses and lungs, including severe CMV disease, P. carinii pneumonia, and mucocutaneous candidiasis. While the cause of Good syndrome remains unknown, there is some evidence that a defect of the bone marrow is involved. Treatment includes removal of the thymic tumor and immunoglobulin replacement." +21967,What causes Hypoplastic left heart syndrome ?, +26138,What are the symptoms of Port-wine stain ?, +40802,How should Cromolyn Sodium Nasal Solution be used and what is the dosage ?, +12941,What are the treatments for Myelodysplastic/ Myeloproliferative Neoplasms ?,"Key Points + - There are different types of treatment for patients with myelodysplastic/myeloproliferative neoplasms. - Five types of standard treatment are used: - Chemotherapy - Other drug therapy - Stem cell transplant - Supportive care - Targeted therapy - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with myelodysplastic/myeloproliferative neoplasms. + Different types of treatments are available for patients with myelodysplastic /myeloproliferative neoplasms. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Five types of standard treatment are used: + Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. Combination chemotherapy is treatment using more than one anticancer drug. See Drugs Approved for Myeloproliferative Neoplasms for more information. Other drug therapy 13-cis retinoic acid is a vitamin -like drug that slows the cancer's ability to make more cancer cells and changes the way these cells look and act. Stem cell transplant Stem cell transplant is a method of replacing blood -forming cells that are destroyed by chemotherapy. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the body's blood cells. Supportive care Supportive care is given to lessen the problems caused by the disease or its treatment. Supportive care may include transfusion therapy or drug therapy, such as antibiotics to fight infection. Targeted therapy Targeted therapy is a cancer treatment that uses drugs or other substances to attack cancer cells without harming normal cells. Targeted therapy drugs called tyrosine kinase inhibitors (TKIs) are used to treat myelodysplastic/myeloproliferative neoplasm, unclassifiable. TKIs block the enzyme, tyrosine kinase, that causes stem cells to become more blood cells (blasts) than the body needs. Imatinib mesylate (Gleevec) is a TKI that may be used. Other targeted therapy drugs are being studied in the treatment of JMML. See Drugs Approved for Myeloproliferative Neoplasms for more information. + + + New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options for Myelodysplastic/ Myeloproliferative Neoplasms + + + Chronic Myelomonocytic Leukemia + Treatment of chronic myelomonocytic leukemia (CMML) may include the following: - Chemotherapy with one or more agents. - Stem cell transplant. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with chronic myelomonocytic leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Juvenile Myelomonocytic Leukemia + Treatment of juvenile myelomonocytic leukemia (JMML) may include the following: - Combination chemotherapy. - Stem cell transplant. - 13-cis-retinoic acid therapy. - A clinical trial of a new treatment, such as targeted therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with juvenile myelomonocytic leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Atypical Chronic Myelogenous Leukemia + Treatment of atypical chronic myelogenous leukemia (CML) may include chemotherapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with atypical chronic myeloid leukemia, BCR-ABL1 negative. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Myelodysplastic/ Myeloproliferative Neoplasm, Unclassifiable + Because myelodysplastic /myeloproliferative neoplasm, unclassifiable (MDS/MPN-UC) is a rare disease, little is known about its treatment. Treatment may include the following: - Supportive care treatments to manage problems caused by the disease such as infection, bleeding, and anemia. - Targeted therapy (imatinib mesylate). Check the list of NCI-supported cancer clinical trials that are now accepting patients with myelodysplastic/myeloproliferative neoplasm, unclassifiable. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website." +43472,What should I know about storage and disposal of Benzonatate ?, +40046,What should I do if I forget a dose of Teriflunomide ?, +11103,what research (or clinical trials) is being done for Dyssynergia Cerebellaris Myoclonica ?,"The NINDS supports a broad range of research on neurodegenerative disorders such as Dyssynergia Cerebellaris Myoclonica. The goals of this research are to find ways to prevent, treat, and cure these kinds of disorders." +33226,How to prevent Parasites - Hookworm ?,"The best way to avoid hookworm infection is not to walk barefoot in areas where hookworm is common and where there may be human fecal contamination of the soil. Also, avoid other skin contact with such soil and avoid ingesting it. + +Infection can also be prevented by not defecating outdoors and by effective sewage disposal systems." +34720,What are the side effects or risks of Aclidinium Oral Inhalation ?, +11853,What are the treatments for Anencephaly ?,There is no cure or standard treatment for anencephaly. Treatment is supportive. +5152,What are the genetic changes related to chronic granulomatous disease ?,"Mutations in the CYBA, CYBB, NCF1, NCF2, or NCF4 gene can cause chronic granulomatous disease. There are five types of this condition that are distinguished by the gene that is involved. The proteins produced from the affected genes are parts (subunits) of an enzyme complex called NADPH oxidase, which plays an essential role in the immune system. Specifically, NADPH oxidase is primarily active in immune system cells called phagocytes. These cells catch and destroy foreign invaders such as bacteria and fungi. Within phagocytes, NADPH oxidase is involved in the production of a toxic molecule called superoxide. Superoxide is used to generate other toxic substances, which play a role in killing foreign invaders and preventing them from reproducing in the body and causing illness. NADPH oxidase is also thought to regulate the activity of immune cells called neutrophils. These cells play a role in adjusting the inflammatory response to optimize healing and reduce injury to the body. Mutations in the CYBA, CYBB, NCF1, NCF2, and NCF4 genes result in the production of proteins with little or no function or the production of no protein at all. Mutations in the genes that cause chronic granulomatous disease that prevent the production of any functional protein are designated ""0"". For example, mutations in the CYBB gene that lead to no functional beta chain are designated CYBB0. Mutations that lead to a reduction of the amount of protein produced are designated ""-"", for example, CYBB-. Without any one of its subunit proteins, NADPH oxidase cannot assemble or function properly. As a result, phagocytes are unable to kill foreign invaders and neutrophil activity is not regulated. A lack of NADPH oxidase leaves affected individuals vulnerable to many types of infection and excessive inflammation. Some people with chronic granulomatous disease do not have an identified mutation in any of these genes. The cause of the condition in these individuals is unknown." +39974,What other information should I know about Terazosin ?, +46835,What should I know about storage and disposal of Minocycline Oral ?, +14620,What is (are) Neural Tube Defects ?,"Neural tube defects are birth defects of the brain, spine, or spinal cord. They happen in the first month of pregnancy, often before a woman even knows that she is pregnant. The two most common neural tube defects are spina bifida and anencephaly. In spina bifida, the fetal spinal column doesn't close completely. There is usually nerve damage that causes at least some paralysis of the legs. In anencephaly, most of the brain and skull do not develop. Babies with anencephaly are usually either stillborn or die shortly after birth. Another type of defect, Chiari malformation, causes the brain tissue to extend into the spinal canal. The exact causes of neural tube defects aren't known. You're at greater risk of having an infant with a neural tube defect if you - Are obese - Have poorly controlled diabetes - Take certain antiseizure medicines Getting enough folic acid, a type of B vitamin, before and during pregnancy prevents most neural tube defects. Neural tube defects are usually diagnosed before the infant is born, through lab or imaging tests. There is no cure for neural tube defects. The nerve damage and loss of function that are present at birth are usually permanent. However, a variety of treatments can sometimes prevent further damage and help with complications. NIH: National Institute of Child Health and Human Development" +3252,What are the genetic changes related to infantile neuronal ceroid lipofuscinosis ?,"Mutations in the PPT1 gene cause most cases of infantile NCL. The PPT1 gene provides instructions for making an enzyme called palmitoyl-protein thioesterase 1. This enzyme is active in cell compartments called lysosomes, which digest and recycle different types of molecules. Palmitoyl-protein thioesterase 1 removes certain fats called long-chain fatty acids from proteins, which probably helps break down the proteins. Palmitoyl-protein thioesterase 1 is also thought to be involved in a variety of other cell functions. PPT1 gene mutations that cause infantile NCL decrease the production or function of palmitoyl-protein thioesterase 1. A shortage of functional enzyme impairs the removal of fatty acids from proteins. In the lysosomes, these fats and proteins accumulate as fatty substances called lipopigments. These accumulations occur in cells throughout the body, but nerve cells in the brain seem to be particularly vulnerable to the damage caused by buildup of lipopigments and the loss of enzyme function. The progressive death of cells, especially in the brain, leads to the signs and symptoms of infantile NCL." +39528,What to do in case of emergency or overdose of Tolvaptan ?, +12882,Who is at risk for Neuroblastoma? ?,The risk factors for neuroblastoma are not known. +23405,What are the complications of Hantavirus ?, +1371,How many people are affected by pseudocholinesterase deficiency ?,"Pseudocholinesterase deficiency occurs in 1 in 3,200 to 1 in 5,000 people. It is more common in certain populations, such as the Persian Jewish community and Alaska Natives." +38796,What important warning or information should I know about Cyclosporine ?, +41517,What to do in case of emergency or overdose of Ciprofloxacin ?, +29598,How to diagnose Hot tub folliculitis ?, +10796,How to diagnose Charcot-Marie-Tooth disease type 2F ?,"Is genetic testing available for Charcot-Marie-Tooth disease type 2F? Yes. GeneTests lists the names of laboratories that are performing clincial genetic testing for Charcot-Marie-Tooth disease type 2F. To view the contact information for these laboratories, click here. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional." +24708,What causes Ovarian cysts ?, +38067,Are there safety concerns or special precautions about Ethinyl Estradiol and Norelgestromin Transdermal Patch ?, +47297,How should Permethrin Topical be used and what is the dosage ?, +1105,What is (are) Gaucher disease ?,"Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected individuals. Researchers have described several types of Gaucher disease based on their characteristic features. Type 1 Gaucher disease is the most common form of this condition. Type 1 is also called non-neuronopathic Gaucher disease because the brain and spinal cord (the central nervous system) are usually not affected. The features of this condition range from mild to severe and may appear anytime from childhood to adulthood. Major signs and symptoms include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), lung disease, and bone abnormalities such as bone pain, fractures, and arthritis. Types 2 and 3 Gaucher disease are known as neuronopathic forms of the disorder because they are characterized by problems that affect the central nervous system. In addition to the signs and symptoms described above, these conditions can cause abnormal eye movements, seizures, and brain damage. Type 2 Gaucher disease usually causes life-threatening medical problems beginning in infancy. Type 3 Gaucher disease also affects the nervous system, but it tends to worsen more slowly than type 2. The most severe type of Gaucher disease is called the perinatal lethal form. This condition causes severe or life-threatening complications starting before birth or in infancy. Features of the perinatal lethal form can include extensive swelling caused by fluid accumulation before birth (hydrops fetalis); dry, scaly skin (ichthyosis) or other skin abnormalities; hepatosplenomegaly; distinctive facial features; and serious neurological problems. As its name indicates, most infants with the perinatal lethal form of Gaucher disease survive for only a few days after birth. Another form of Gaucher disease is known as the cardiovascular type because it primarily affects the heart, causing the heart valves to harden (calcify). People with the cardiovascular form of Gaucher disease may also have eye abnormalities, bone disease, and mild enlargement of the spleen (splenomegaly)." +12896,Who is at risk for Oral Cavity and Oropharyngeal Cancer? ?,"Different factors increase or decrease the risk of oral cavity and oropharyngeal cancer. Anything that increases your chance of getting a disease is called a risk factor. Anything that decreases your chance of getting a disease is called a protective factor. For information about risk factors and protective factors for oral cavity and oropharyngeal cancer, see the PDQ summary on Oral Cavity and Oropharyngeal Cancer Prevention." +22406,What are the complications of Carpal tunnel syndrome ?, +8522,What are the symptoms of Desmoplastic infantile ganglioglioma ?,"What signs and symptoms are associated with desmoplastic infantile gangliomas? Most infants with DIGs do not have seizures; however, they usually have a bulging fontanelle, rapid head growth, sunset sign, and vomiting." +16413,Where to find support for people with Alstrm syndrome ?, +42245,What to do in case of emergency or overdose of Alogliptin ?, +25459,Do you have information about Anticoagulant rodenticides poisoning, +5954,What causes Antisynthetase syndrome ?,"What causes antisynthetase syndrome? The exact underlying cause of antisynthetase syndrome is currently unknown. However, it is considered an autoimmune disease. Autoimmune disorders occur when the body's immune system attacks and destroys healthy body tissue by mistake. In antisynthetase syndrome, specifically, the production of autoantibodies (antibodies that attack normal cells instead of disease-causing agents) that recognize and attack certain enzymes in the body called 'aminoacyl-tRNA synthetases' appears to be linked to the cause of the syndrome. Aminoacyl-tRNA synthetases are involved in protein synthesis within the body. The exact role of autoantibodies in causation of antisynthetase syndrome is not yet known." +4197,What are the genetic changes related to glutathione synthetase deficiency ?,"Mutations in the GSS gene cause glutathione synthetase deficiency. The GSS gene provides instructions for making an enzyme called glutathione synthetase. This enzyme is involved in a process called the gamma-glutamyl cycle, which takes place in most of the body's cells. This cycle is necessary for producing a molecule called glutathione. Glutathione protects cells from damage caused by unstable oxygen-containing molecules, which are byproducts of energy production. Glutathione is called an antioxidant because of its role in protecting cells from the damaging effects of these unstable molecules. Mutations in the GSS gene prevent cells from making adequate levels of glutathione, leading to the signs and symptoms of glutathione synthetase deficiency." +43876,What are the side effects or risks of Magnesium Oxide ?, +3264,What are the treatments for DMD-associated dilated cardiomyopathy ?,"These resources address the diagnosis or management of DMD-associated dilated cardiomyopathy: - Gene Review: Gene Review: Dilated Cardiomyopathy Overview - Gene Review: Gene Review: Dystrophinopathies - Genetic Testing Registry: Dilated cardiomyopathy 3B - Genetic Testing Registry: Duchenne muscular dystrophy - National Heart, Lung, and Blood Institute: How Is Cardiomyopathy Diagnosed? - National Heart, Lung, and Blood Institute: How Is Cardiomyopathy Treated? These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care" +32127,What is (are) Nicotine poisoning ?, +23270,Do you have information about Complement component 4, +16568,What are the complications of Industrial bronchitis ?, +41916,What are the brand names of Itraconazole ?, +36338,What special dietary instructions should I follow with Icosapent Ethyl ?, +17328,What are the symptoms of Atelectasis ?, +24080,What to do for Blood in the semen ?, +10536,What is (are) Acanthoma ?,"An acanthoma is a small, reddish bump that usually develops on the skin of an older adult. There are several types of acanthoma, including ""acantholytic"", ""epidermolytic"", ""clear cell"", and ""melanoacanthoma"". Though most individuals have only one acanthoma, there have been rare reports of individuals who have developed many. The exact cause of acanthoma is not known; it is sometimes called a benign tumor, and sometimes described as the result of inflammation. Acanthomas are not considered dangerous and do not require treatment, but they may be removed for cosmetic reasons or to relieve any associated symptoms." +33764,How to prevent Sexual and Urologic Problems of Diabetes ?,"People with diabetes can lower their risk of sexual and urologic problems by keeping their blood glucose, blood pressure, and cholesterol levels close to the target numbers their health care provider recommends. Being physically active and maintaining a healthy weight can also help prevent the long-term complications of diabetes. For those who smoke, quitting will lower the risk of developing sexual and urologic problems due to nerve damage and also lower the risk for other health problems related to diabetes, including heart attack, stroke, and kidney disease. + +More information about preventing diabetes complications is provided in the NIDDK health topic, Prevent diabetes problems: Keep your diabetes under control, available from the National Diabetes Information Clearinghouse at 1-800-860-8747." +44124,What to do in case of emergency or overdose of Ceftriaxone Injection ?, +23096,What are the treatments for Chronic obstructive pulmonary disease ?, +23038,How to diagnose Age-related hearing loss ?, +8512,What is (are) Galloway-Mowat syndrome ?,"Galloway-Mowat syndrome is a rare, neurodegenerative disorder characterized by various developmental and physical abnormalities. Signs and symptoms may include small head size (microcephaly); developmental delay; seizures; nephrotic syndrome; hiatal hernia; optic atrophy; movement disorders; and intellectual disability. Other physical abnormalities may also be present. Galloway-Mowat syndrome may be caused by changes (mutations) in the WDR73 gene and is inherited in an autosomal recessive manner. Other, unknown genes may also be responsible. Affected children often do not survive beyond the first few years of life. Treatment is aimed at the specific signs and symptoms present." +6175,Is Wolfram syndrome inherited ?,"Is Wolfram syndrome inherited? Wolfram syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier." +35122,Who should get Montelukast and why is it prescribed ?, +23268,Do I need to see a doctor for Mumps ?, +1934,"What are the treatments for immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome ?",These resources address the diagnosis or management of IPEX syndrome: - Gene Review: Gene Review: IPEX Syndrome - Genetic Testing Registry: Insulin-dependent diabetes mellitus secretory diarrhea syndrome - Seattle Children's Hospital These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care +13212,what research (or clinical trials) is being done for Childhood Soft Tissue Sarcoma ?,"New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Gene therapy Gene therapy is being studied for childhood synovial sarcoma that has recurred, spread, or cannot be removed by surgery. Some of the patient's T cells (a type of white blood cell) are removed and the genes in the cells are changed in a laboratory (genetically engineered) so that they will attack specific cancer cells. They are then given back to the patient by infusion. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials." +40985,What are the side effects or risks of Levocetirizine ?, +41245,What other information should I know about Cytarabine Lipid Complex Injection ?, +32777,Do I need to see a doctor for Salmonella enterocolitis ?, +190,What is (are) ZAP70-related severe combined immunodeficiency ?,"ZAP70-related severe combined immunodeficiency (SCID) is an inherited disorder that damages the immune system. ZAP70-related SCID is one of several forms of severe combined immunodeficiency, a group of disorders with several genetic causes. Children with SCID lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. Often the organisms that cause infection in people with this disorder are described as opportunistic because they ordinarily do not cause illness in healthy people. Infants with SCID typically experience pneumonia, chronic diarrhea, and widespread skin rashes. They also grow much more slowly than healthy children. If not treated in a way that restores immune function, children with SCID usually live only a year or two. Most individuals with ZAP70-related SCID are diagnosed in the first 6 months of life. At least one individual first showed signs of the condition later in childhood and had less severe symptoms, primarily recurrent respiratory and skin infections." +4988,Is tuberous sclerosis complex inherited ?,"Tuberous sclerosis complex has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing tumors and other problems with development. In about one-third of cases, an affected person inherits an altered TSC1 or TSC2 gene from a parent who has the disorder. The remaining two-thirds of people with tuberous sclerosis complex are born with new mutations in the TSC1 or TSC2 gene. These cases, which are described as sporadic, occur in people with no history of tuberous sclerosis complex in their family. TSC1 mutations appear to be more common in familial cases of tuberous sclerosis complex, while mutations in the TSC2 gene occur more frequently in sporadic cases." +19705,What is (are) Hoarseness ?, +6403,What are the symptoms of Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia ?,"What are the signs and symptoms of Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Aplasia/Hypoplasia of the eyebrow 90% Behavioral abnormality 90% Delayed skeletal maturation 90% Fine hair 90% Hypohidrosis 90% Hypothyroidism 90% Recurrent respiratory infections 90% Short stature 90% Lacrimation abnormality 50% Melanocytic nevus 50% Abnormal respiratory motile cilium morphology - Abnormality of skin pigmentation - Autosomal recessive inheritance - Ciliary dyskinesia - Hypohidrotic ectodermal dysplasia - Nail dysplasia - Primary hypothyroidism - Recurrent infections - Sparse eyebrow - Sparse scalp hair - Urticaria - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common." +35951,What special dietary instructions should I follow with Mesoridazine Oral ?, +30028,Do you have information about Tubal ligation reversal, +17921,What are the symptoms of Heart disease and depression ?, +6712,Is Abetalipoproteinemia inherited ?,"How is abetalipoproteinemia inherited? Abetalipoproteinemia is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier" +35970,What are the side effects or risks of Acyclovir Injection ?, +28255,Do you have information about Skin characteristics in newborns, +13511,What are the symptoms of Childhood Interstitial Lung Disease ?,"Childhood interstitial lung disease (chILD) has many signs and symptoms because the disease has many forms. Signs and symptoms may include: + +Fast breathing, which also is called tachypnea (tak-ip-NE-ah) + +Labored breathing, which also is called respiratory distress + +Low oxygen levels in the blood, which also is called hypoxemia (hi-POK-se-ah) + +Recurrent coughing, wheezing, or crackling sounds in the chest + +Shortness of breath during exercise (in older children) or while eating (in infants), which also is called dyspnea (disp-NE-ah) + +Poor growth or failure to gain weight + +Recurrent pneumonia or bronchiolitis + +If your child has any of these signs and symptoms, contact his or her doctor. The doctor may refer you to a pediatric pulmonologist. This is a doctor who specializes in diagnosing and treating children who have lung diseases and conditions." +46957,What are the brand names of combination products of Repaglinide ?, +17903,What are the complications of Brucellosis ?, +12471,What is the dosage of Senna ?, +46520,Who should get Silver Sulfadiazine and why is it prescribed ?, +18888,What are the treatments for Piriformis syndrome ?, +13309,What are the treatments for Anal Cancer ?,"Key Points + - There are different types of treatment for patients with anal cancer. - Three types of standard treatment are used: - Radiation therapy - Chemotherapy - Surgery - Having the human immunodeficiency virus can affect treatment of anal cancer. - New types of treatment are being tested in clinical trials. - Radiosensitizers - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with anal cancer. + Different types of treatments are available for patients with anal cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Three types of standard treatment are used: + Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External and internal radiation therapy are used to treat anal cancer. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping the cells from dividing. When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach cancer cells throughout the body (systemic chemotherapy). When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect cancer cells in those areas (regional chemotherapy). The way the chemotherapy is given depends on the type and stage of the cancer being treated. Surgery - Local resection: A surgical procedure in which the tumor is cut from the anus along with some of the healthy tissue around it. Local resection may be used if the cancer is small and has not spread. This procedure may save the sphincter muscles so the patient can still control bowel movements. Tumors that form in the lower part of the anus can often be removed with local resection. - Abdominoperineal resection: A surgical procedure in which the anus, the rectum, and part of the sigmoid colon are removed through an incision made in the abdomen. The doctor sews the end of the intestine to an opening, called a stoma, made in the surface of the abdomen so body waste can be collected in a disposable bag outside of the body. This is called a colostomy. Lymph nodes that contain cancer may also be removed during this operation. + + + Having the human immunodeficiency virus can affect treatment of anal cancer. + Cancer therapy can further damage the already weakened immune systems of patients who have the human immunodeficiency virus (HIV). For this reason, patients who have anal cancer and HIV are usually treated with lower doses of anticancer drugs and radiation than patients who do not have HIV. + + + New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Radiosensitizers Radiosensitizers are drugs that make tumor cells more sensitive to radiation therapy. Combining radiation therapy with radiosensitizers may kill more tumor cells. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options by Stage + + + Stage 0 (Carcinoma in Situ) + Treatment of stage 0 is usually local resection. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage 0 anal cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage I Anal Cancer + Treatment of stage I anal cancer may include the following: - Local resection. - External-beam radiation therapy with or without chemotherapy. If cancer remains after treatment, more chemotherapy and radiation therapy may be given to avoid the need for a permanent colostomy. - Internal radiation therapy. - Abdominoperineal resection, if cancer remains or comes back after treatment with radiation therapy and chemotherapy. - Internal radiation therapy for cancer that remains after treatment with external-beam radiation therapy. Patients who have had treatment that saves the sphincter muscles may receive follow-up exams every 3 months for the first 2 years, including rectal exams with endoscopy and biopsy, as needed. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage I anal cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage II Anal Cancer + Treatment of stage II anal cancer may include the following: - Local resection. - External-beam radiation therapy with chemotherapy. If cancer remains after treatment, more chemotherapy and radiation therapy may be given to avoid the need for a permanent colostomy. - Internal radiation therapy. - Abdominoperineal resection, if cancer remains or comes back after treatment with radiation therapy and chemotherapy. - A clinical trial of new treatment options. Patients who have had treatment that saves the sphincter muscles may receive follow-up exams every 3 months for the first 2 years, including rectal exams with endoscopy and biopsy, as needed. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage II anal cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage IIIA Anal Cancer + Treatment of stage IIIA anal cancer may include the following: - External-beam radiation therapy with chemotherapy. If cancer remains after treatment, more chemotherapy and radiation therapy may be given to avoid the need for a permanent colostomy. - Internal radiation therapy. - Abdominoperineal resection, if cancer remains or comes back after treatment with chemotherapy and radiation therapy. - A clinical trial of new treatment options. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage IIIA anal cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage IIIB Anal Cancer + Treatment of stage IIIB anal cancer may include the following: - External-beam radiation therapy with chemotherapy. - Local resection or abdominoperineal resection, if cancer remains or comes back after treatment with chemotherapy and radiation therapy. Lymph nodes may also be removed. - A clinical trial of new treatment options. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage IIIB anal cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website. + + + Stage IV Anal Cancer + Treatment of stage IV anal cancer may include the following: - Surgery as palliative therapy to relieve symptoms and improve the quality of life. - Radiation therapy as palliative therapy. - Chemotherapy with radiation therapy as palliative therapy. - A clinical trial of new treatment options. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage IV anal cancer. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website." +36388,Are there safety concerns or special precautions about Tretinoin Topical ?, +15798,What are the symptoms of Turner syndrome ?, +29472,What is the outlook for Mercuric oxide poisoning ?, +47,What are the genetic changes related to trisomy 18 ?,"Most cases of trisomy 18 result from having three copies of chromosome 18 in each cell in the body instead of the usual two copies. The extra genetic material disrupts the normal course of development, causing the characteristic features of trisomy 18. Approximately 5 percent of people with trisomy 18 have an extra copy of chromosome 18 in only some of the body's cells. In these people, the condition is called mosaic trisomy 18. The severity of mosaic trisomy 18 depends on the type and number of cells that have the extra chromosome. The development of individuals with this form of trisomy 18 may range from normal to severely affected. Very rarely, part of the long (q) arm of chromosome 18 becomes attached (translocated) to another chromosome during the formation of reproductive cells (eggs and sperm) or very early in embryonic development. Affected individuals have two copies of chromosome 18, plus the extra material from chromosome 18 attached to another chromosome. People with this genetic change are said to have partial trisomy 18. If only part of the q arm is present in three copies, the physical signs of partial trisomy 18 may be less severe than those typically seen in trisomy 18. If the entire q arm is present in three copies, individuals may be as severely affected as if they had three full copies of chromosome 18." +45185,What are the side effects or risks of Bevacizumab Injection ?, +18858,What are the symptoms of Liver metastases ?, +10137,What are the symptoms of Lymphomatoid papulosis ?,"What are the early signs of lymphomatoid papulosis? Patients may present with multiple skin papules (raised bumps) that can occur anywhere on the body but most often on the chest, stomach, back, arms, and legs. The papules appear in crops and may be mildly itchy. They may develop into blood or pus-filled blisters that break and form a crusty sore before healing completely. Lesions tend to spontaneously heal with or without scarring within 2-8 weeks of appearing." +44757,What should I know about storage and disposal of Mefloquine ?, +46015,"What should I do if I forget a dose of Bismuth, Metronidazole, and Tetracycline ?", +8036,What are the symptoms of Bartter syndrome type 3 ?,"What are the signs and symptoms of Bartter syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Bartter syndrome type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypocalciuria 7.5% Abnormality of the choroid - Abnormality of the retinal vasculature - Abnormality of the sclera - Autosomal recessive inheritance - Dehydration - Generalized muscle weakness - Hyperactive renin-angiotensin system - Hyperaldosteronism - Hyperchloridura - Hypokalemia - Hypokalemic metabolic alkalosis - Hypotension - Impaired reabsorption of chloride - Increased circulating renin level - Increased urinary potassium - Polyuria - Renal potassium wasting - Renal salt wasting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common." +44903,What special dietary instructions should I follow with Secukinumab Injection ?, +23858,Where to find support for people with Arrhenoblastoma of ovary ?, +30998,Who is at risk for Staph infections - hospital? ?, +15678,How to prevent High Blood Pressure ?,"Two key measures are used to determine if someone is overweight or obese. These are body mass index, or BMI, and waist circumference. Body mass index (BMI) is a measure of weight in relation to height, and provides an estimate of your total body fat. As your BMI goes up, so do your chances of getting high blood pressure, heart disease, and other health problems. A BMI - below 18.5 is a sign that you are underweight. - between 18.5 and 24.9 is in the healthy range. - between 25 and 29.9 is considered overweight. - of 30 or more is considered obese. below 18.5 is a sign that you are underweight. between 18.5 and 24.9 is in the healthy range. between 25 and 29.9 is considered overweight. of 30 or more is considered obese. See the Body Mass Index Table, available from the National Heart, Lung, and Blood Institute (NHLBI). Body mass index (BMI) applies to both men and women, but it does have some limits. - It may overestimate body fat in in someone who is very muscular or who has swelling from fluid retention (called edema) - It may underestimate body fat in older persons and others who have lost muscle mass. It may overestimate body fat in in someone who is very muscular or who has swelling from fluid retention (called edema) It may underestimate body fat in older persons and others who have lost muscle mass. Thats why waist measurement is often checked as well. Another reason is that too much body fat in the stomach area also increases disease risk. A waist measurement of more than 35 inches in women and more than 40 inches in men is considered high." +20394,What is (are) Diet - full liquid ?, +23530,What causes Endophthalmitis ?, +27574,How to prevent Pericarditis ?, +33865,What to do for Childhood Nephrotic Syndrome ?,"Children who have nephrotic syndrome may need to make changes to their diet, such as + +- limiting the amount of sodium, often from salt, they take in each day - reducing the amount of liquids they drink each day - eating a diet low in saturated fat and cholesterol to help control elevated cholesterol levels + +Parents or caretakers should talk with the childs health care provider before making any changes to the childs diet. + +More information is provided in the NIDDK health topic, Nutrition for Chronic Kidney Disease in Children." +47197,How should Calcitriol be used and what is the dosage ?, +4219,What are the treatments for Marfan syndrome ?,These resources address the diagnosis or management of Marfan syndrome: - Gene Review: Gene Review: Marfan Syndrome - Genetic Testing Registry: Marfan syndrome - MarfanDX - MedlinePlus Encyclopedia: Aortic Dissection - MedlinePlus Encyclopedia: Marfan Syndrome - MedlinePlus Encyclopedia: Thoracic Aortic Aneurysm - National Marfan Foundation: Diagnosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care +38788,Who should get Pyrantel and why is it prescribed ?, +10502,What are the symptoms of Filippi syndrome ?,"What are the signs and symptoms of Filippi syndrome? Filippi syndrome is characterized by growth delays before and after birth, a low birth weight, and short stature. Affected individuals are also born with abnormalities of the head and facial area (craniofacial abnormalities), resulting in a distinctive facial appearance. Affected infants typically have a small head (microcephaly), a high forehead, a broad bridge of the nose, thin nostrils, an abnormally thin upper lip, and widely spaced eyes (hypertelorism). Filippi syndrome is also characterized by mild to severe intellectual disability; some affected individuals may have abnormal language and speech development, potentially resulting in an inability to speak. Abnormalities of the fingers and toes have also been reported. These may include webbing or fusion of the fingers and toes (syndactyly). The severity of the syndactyly may be variable, ranging from webbing of skin and other soft tissues to fusion of bone within the affected fingers or toes. Affected individuals can also have extra fingers and/or toes (polydactyly). In addition, the fingers and toes may appear unusually short (brachydactyly), particularly due to abnormalities of the bones within the hands and feet. Some individuals may have additional physical abnormalities including delayed bone age, incomplete closure of the roof of the mouth (cleft palate), and a dislocated elbow. In some affected males, the testes may fail to descend into the scrotum (cryptorchidism). In one report, skin and teeth abnormalities were also noted. The Human Phenotype Ontology provides the following list of signs and symptoms for Filippi syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Clinodactyly of the 5th finger 90% Cognitive impairment 90% Cryptorchidism 90% Finger syndactyly 90% Microcephaly 90% Neurological speech impairment 90% Prominent nasal bridge 90% Short stature 90% Underdeveloped nasal alae 90% Delayed skeletal maturation 50% Frontal bossing 50% Single transverse palmar crease 50% Hypertrichosis 5% Hypodontia 5% Sparse hair 5% 2-4 toe syndactyly - Autosomal recessive inheritance - Broad forehead - Cerebellar atrophy - Decreased body weight - Dystonia - Intellectual disability - Intrauterine growth retardation - Microdontia - Optic atrophy - Postnatal growth retardation - Proptosis - Seizures - Short philtrum - Thin vermilion border - Ventricular septal defect - Visual impairment - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common." +11379,What are the treatments for Subacute Sclerosing Panencephalitis ?,"Currently, there is no cure for SSPE. Clinical trials of antiviral (isoprinosine and ribavirin) and immunomodulatory (interferon alpha) drugs have suggested that these types of therapies given alone or in combination halt the progression of the disease and can prolong life, but their long-term effects on individuals, and eventual outcome, are unknown. Good nursing care is the most important aspect of treatment for SSPE, along with anticonvulsant and antispasmodic drugs when needed." +1945,What is (are) hyperprolinemia ?,"Hyperprolinemia is an excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms of hyperprolinemia, called type I and type II. People with hyperprolinemia type I often do not show any symptoms, although they have proline levels in their blood between 3 and 10 times the normal level. Some individuals with hyperprolinemia type I exhibit seizures, intellectual disability, or other neurological or psychiatric problems. Hyperprolinemia type II results in proline levels in the blood between 10 and 15 times higher than normal, and high levels of a related compound called pyrroline-5-carboxylate. This form of the disorder has signs and symptoms that vary in severity, and is more likely than type I to involve seizures or intellectual disability. Hyperprolinemia can also occur with other conditions, such as malnutrition or liver disease. In particular, individuals with conditions that cause elevated levels of lactic acid in the blood (lactic acidemia) may have hyperprolinemia as well, because lactic acid inhibits the breakdown of proline." +38724,What special dietary instructions should I follow with Olopatadine Ophthalmic ?, +2808,Is multiple cutaneous and mucosal venous malformations inherited ?,"VMCM is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing venous malformations. Some gene mutations are acquired during a person's lifetime and are present only in certain cells. These changes, which are not inherited, are called somatic mutations. Researchers have discovered that some VMCM lesions have one inherited and one somatic TEK gene mutation. It is not known if the somatic mutation occurs before or after the venous malformation forms. As lesions are localized and not all veins are malformed, it is thought that the inherited mutation alone is not enough to cause venous malformations. In most cases, an affected person has one parent with the condition." +34853,What should I do if I forget a dose of Saquinavir ?, +14683,What is (are) Osteoporosis ?,"Osteoporosis makes your bones weak and more likely to break. Anyone can develop osteoporosis, but it is common in older women. As many as half of all women and a quarter of men older than 50 will break a bone due to osteoporosis. Risk factors include - Getting older - Being small and thin - Having a family history of osteoporosis - Taking certain medicines - Being a white or Asian woman - Having osteopenia, which is low bone density Osteoporosis is a silent disease. You might not know you have it until you break a bone. A bone mineral density test is the best way to check your bone health. To keep bones strong, eat a diet rich in calcium and vitamin D, exercise and do not smoke. If needed, medicines can also help. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases" +7187,What is (are) Gray platelet syndrome ?,"Gray platelet syndrome (GPS) is a rare inherited bleeding disorder characterized by platelets that have a gray appearance, severe thrombocytopenia, myelofibrosis, and splenomegaly. About 60 cases from various populations around the world have been described in the literature to date. GPS results from the absence or reduction of alpha-granules in platelets, which store proteins that promote platelet adhesiveness and wound healing when secreted during an injury. GPS is caused by mutations in the NBEAL2 gene and inherited in an autosomal recessive manner." +38261,What to do in case of emergency or overdose of Tramadol ?, +37286,Are there safety concerns or special precautions about Ramipril ?, +13836,What is (are) Immune Thrombocytopenia ?,"Immune thrombocytopenia (THROM-bo-si-toe-PE-ne-ah), or ITP, is a bleeding disorder. In ITP, the blood doesn't clot as it should. This is due to a low number of blood cell fragments called platelets (PLATE-lets) or thrombocytes (THROM-bo-sites). + +Platelets are made in your bone marrow along with other kinds of blood cells. They stick together (clot) to seal small cuts or breaks on blood vessel walls and stop bleeding. + +Overview + +Without enough platelets, bleeding can occur inside the body (internal bleeding) or underneath or from the skin (external bleeding). + +People who have ITP often have purple bruises called purpura (PURR-purr-ah). These bruises appear on the skin or mucous membranes (for example, in the mouth). Bleeding from small blood vessels under the skin causes purpura. + +People who have ITP also may have bleeding that causes tiny red or purple dots on the skin. These pinpoint-sized dots are called petechiae (peh-TEE-kee-ay). Petechiae may look like a rash. + +Petechiae and Purpura + + + +People who have ITP also may have nosebleeds, bleeding from the gums during dental work, or other bleeding that's hard to stop. Women who have ITP may have menstrual bleeding that's heavier than normal. + +A lot of bleeding can cause hematomas (he-mah-TO-mas). A hematoma is a collection of clotted or partially clotted blood under the skin. It looks or feels like a lump. + +Bleeding in the brain as a result of ITP is very rare, but can be life threatening if it occurs. + +In most cases, an autoimmune response is thought to cause ITP. Normally, your immune system helps your body fight off infections and diseases. But if you have ITP, your immune system attacks and destroys its own platelets. The reason why this happens isn't known. + +ITP can't be passed from one person to another. + +Types of Immune Thrombocytopenia + +The two types of ITP are acute (temporary or short-term) and chronic (long-lasting). + +Acute ITP generally lasts less than 6 months. It mainly occurs in childrenboth boys and girlsand is the most common type of ITP. Acute ITP often occurs after a viral infection. + +Chronic ITP lasts 6 months or longer and mostly affects adults. However, some teenagers and children do get this type of ITP. Chronic ITP affects women two to three times more often than men. + +Treatment depends on the severity of bleeding and the platelet count. In mild cases, treatment may not be needed. + +Outlook + +For most children and adults, ITP isn't a serious or life-threatening condition. + +Acute ITP in children often goes away on its own within a few weeks or months and doesn't return. In 80 percent of children who have ITP, the platelet count returns to normal within 6 to 12 months. Treatment may not be needed. + +For a small number of children, ITP doesn't go away on its own and may require further medical or surgical treatment. + +Chronic ITP varies from person to person and can last for many years. Even people who have severe forms of chronic ITP can live for decades. Most people who have chronic ITP can stop treatment at some point and maintain a safe platelet count." +41667,What other information should I know about Sumatriptan Nasal Spray ?, +35754,How should Dulaglutide Injection be used and what is the dosage ?, +3382,What are the genetic changes related to microvillus inclusion disease ?,"Mutations in the MYO5B gene cause microvillus inclusion disease. The MYO5B gene provides instructions for making a protein called myosin Vb. This protein helps to determine the position of various components within cells (cell polarity). Myosin Vb also plays a role in moving components from the cell membrane to the interior of the cell for recycling. MYO5B gene mutations that cause microvillus inclusion disease result in a decrease or absence of myosin Vb function. In cells that line the small intestine (enterocytes), a lack of myosin Vb function changes the cell polarity. As a result, enterocytes cannot properly form structures called microvilli, which normally project like small fingers from the surface of the cells and absorb nutrients and fluids from food as it passes through the intestine. Inside affected enterocytes, small clumps of abnormal microvilli mix with misplaced digestive proteins to form microvillus inclusions, which contribute to the dysfunction of enterocytes. Disorganized enterocytes with poorly formed microvilli reduce the intestine's ability to take in nutrients. The inability to absorb nutrients and fluids during digestion leads to recurrent diarrhea, malnutrition, and dehydration in individuals with microvillus inclusion disease. Some people with the signs and symptoms of microvillus inclusion disease do not have mutations in the MYO5B gene. These cases may be variants of microvillus inclusion disease. Studies suggest that mutations in other genes can cause these cases, but the causes are usually unknown." +2413,Is Walker-Warburg syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition." +6523,What are the symptoms of Oculofaciocardiodental syndrome ?,"What are the signs and symptoms of Oculofaciocardiodental syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculofaciocardiodental syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the cardiac septa 90% Aplasia/Hypoplasia affecting the eye 90% Cataract 90% Delayed eruption of teeth 90% Microcornea 90% Midline defect of the nose 90% Camptodactyly of toe 50% Cleft palate 50% Long philtrum 50% Narrow face 50% Prominent nasal bridge 50% Radioulnar synostosis 50% Reduced number of teeth 50% Toe syndactyly 50% Abnormality of the mitral valve 7.5% Abnormality of the pulmonary valve 7.5% Aplasia/Hypoplasia of the thumb 7.5% Clinodactyly of the 5th finger 7.5% Cognitive impairment 7.5% Cubitus valgus 7.5% Ectopia lentis 7.5% Feeding difficulties in infancy 7.5% Genu valgum 7.5% Glaucoma 7.5% Highly arched eyebrow 7.5% Intestinal malrotation 7.5% Iris coloboma 7.5% Patent ductus arteriosus 7.5% Ptosis 7.5% Retinal detachment 7.5% Scoliosis 7.5% Sensorineural hearing impairment 7.5% Adrenal insufficiency 5% Decreased body weight 5% Dextrocardia 5% Double outlet right ventricle 5% Flexion contracture 5% Hand clenching 5% Hypoplasia of the corpus callosum 5% Hypospadias 5% Hypothyroidism 5% Phthisis bulbi 5% Seizures 5% Spastic paraparesis 5% Talipes equinovarus 5% Umbilical hernia 5% 2-3 toe syndactyly - Anophthalmia - Aortic valve stenosis - Asymmetry of the ears - Atria septal defect - Bifid nasal tip - Bifid uvula - Blepharophimosis - Broad nasal tip - Congenital cataract - Cryptorchidism - Dental malocclusion - Exotropia - Fused teeth - Hammertoe - Increased number of teeth - Intellectual disability, mild - Laterally curved eyebrow - Long face - Microcephaly - Microphthalmia - Mitral valve prolapse - Motor delay - Oligodontia - Persistence of primary teeth - Persistent hyperplastic primary vitreous - Posteriorly rotated ears - Pulmonic stenosis - Septate vagina - Short stature - Submucous cleft hard palate - Thick eyebrow - Ventricular septal defect - Visual loss - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common." +12817,Who is at risk for Skin Cancer? ?,"Skin color and being exposed to sunlight can increase the risk of nonmelanoma skin cancer and actinic keratosis. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for basal cell carcinoma and squamous cell carcinoma include the following: - Being exposed to natural sunlight or artificial sunlight (such as from tanning beds) over long periods of time. - Having a fair complexion, which includes the following: - Fair skin that freckles and burns easily, does not tan, or tans poorly. - Blue or green or other light-colored eyes. - Red or blond hair. - Having actinic keratosis. - Past treatment with radiation. - Having a weakened immune system. - Having certain changes in the genes that are linked to skin cancer. - Being exposed to arsenic." +33312,How to prevent Parasites - Trichinellosis (also known as Trichinosis) ?,"- Wash your hands with warm water and soap after handling raw meat. + - Curing (salting), drying, smoking, or microwaving meat alone does not consistently kill infective worms; homemade jerky and sausage were the cause of many cases of trichinellosis reported to CDC in recent years. + - Freeze pork less than 6 inches thick for 20 days at 5°F (-15°C) to kill any worms. + - Freezing wild game meats, unlike freezing pork products, may not effectively kill all worms because some worm species that infect wild game animals are freeze-resistant. + - Clean meat grinders thoroughly after each use. + + +To help prevent Trichinella infection in animal populations, do not allow pigs or wild animals to eat uncooked meat, scraps, or carcasses of any animals, including rats, which may be infected with Trichinella." +43895,What should I do if I forget a dose of Aluminum Hydroxide and Magnesium Hydroxide ?, +32434,What is (are) Temper tantrums ?, +2454,What are the treatments for metatropic dysplasia ?,These resources address the diagnosis or management of metatropic dysplasia: - Gene Review: Gene Review: TRPV4-Associated Disorders - Genetic Testing Registry: Metatrophic dysplasia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care +37160,What to do in case of emergency or overdose of Bromfenac Ophthalmic ?, +26910,What causes Acute mountain sickness ?, +34433,What is (are) Growth Failure in Children with Chronic Kidney Disease ?,"Growth failure is a complication of CKD in which children do not grow as expected. When a child is below the third percentilemeaning 97 percent of children the same age and gender are tallerhe or she has growth failure.1 CKD is kidney disease that does not go away with treatment and tends to get worse over time. + +Health care providers use charts to monitor the growth of children with CKD and look for signs of growth failure. Growth charts for children use percentiles to compare a particular childs height with the height of children the same age and gender. For example, a child whose height is at the 50th percentile on a growth chart means half the children in the United States are taller than that child and half the children are shorter. + +About one-third of children with CKD have growth failure.1 Children diagnosed with CKD at a younger age + +- have a higher chance of developing growth failure - have more health issues related to growth failure and CKD" +5631,What are the symptoms of Severe intellectual disability-progressive spastic diplegia syndrome ?,"What are the signs and symptoms of Severe intellectual disability-progressive spastic diplegia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Severe intellectual disability-progressive spastic diplegia syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Hypoplasia of the corpus callosum - Intellectual disability - Microcephaly - Muscular hypotonia - Spastic diplegia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common." +41522,How should Chlorpromazine be used and what is the dosage ?, +31966,What is (are) Thyrotoxic periodic paralysis ?, +10887,what research (or clinical trials) is being done for Tarlov Cysts ?,"The NINDS, a component of the National Institutes of Health within the U.S. Department of Health and Human Services, vigorously pursues a research program seeking new treatments to reduce and prevent pain and nerve damage." +42843,What important warning or information should I know about Prasugrel ?, +39070,What other information should I know about Amitriptyline ?, +41786,What special dietary instructions should I follow with Almotriptan ?, +46530,How should Ganciclovir be used and what is the dosage ?, +3159,What are the treatments for Bart-Pumphrey syndrome ?,"These resources address the diagnosis or management of Bart-Pumphrey syndrome: - Foundation for Ichthyosis and Related Skin Types: Palmoplantar Keratoderma - Genetic Testing Registry: Knuckle pads, deafness AND leukonychia syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care" +32732,What is the outlook for Scabies ?, +15625,What is (are) Heart Failure ?,More detailed information on heart failure is available at http://www.nhlbi.nih.gov/health/dci +26526,How to diagnose Colitis ?, +30415,How to prevent Bezoar ?, +6629,What are the treatments for Localized scleroderma ?,"How might morphea be treated? There is no cure for morphea. Treatment is aimed at controlling the signs and symptoms and slowing the spread of the disease. The precise treatment depends on the extent and severity of the condition. Some people with mild morphea may choose to defer treatment. For people with morphea involving only the skin who want treatment, treatment may involve UVA1 phototherapy (or else broad band UVA, narrow band UVB, or PUVA), tacrolimus ointment, or steroid shots. Other treatment options include high potency steroid creams, vitamin D analog creams, or imiquimod. If a persons morphea is rapidly progressive, severe, or causing significant disability treatment options may include systemic steroids (glucocorticoids) and methotrexate. People with morphea should be monitored for joint changes and referred for physical and occupational therapy as appropriate." +1187,What are the genetic changes related to 3-methylcrotonyl-CoA carboxylase deficiency ?,"Mutations in the MCCC1 or MCCC2 gene can cause 3-MCC deficiency. These two genes provide instructions for making different parts (subunits) of an enzyme called 3-methylcrotonyl-coenzyme A carboxylase (3-MCC). This enzyme plays a critical role in breaking down proteins obtained from the diet. Specifically, 3-MCC is responsible for the fourth step in processing leucine, an amino acid that is part of many proteins. Mutations in the MCCC1 or MCCC2 gene reduce or eliminate the activity of 3-MCC, preventing the body from processing leucine properly. As a result, toxic byproducts of leucine processing build up to harmful levels, which can damage the brain. This damage underlies the signs and symptoms of 3-MCC deficiency." +5509,What is (are) Oculocutaneous albinism ?,"Oculocutaneous albinism is a group of conditions that affect the coloring of the hair and eyes. Individuals affected by oculocutaneous albinism have very light skin and light-colored irises; they may also have vision problems such as decreased sharpness of vision, rapid eye movements (nystagmus), crossed eyes (strabismus), or increased sensitivity to light (photophobia). All types of oculocutaneous albinism are caused by gene mutations that are inherited in an autosomal recessive manner. Treatment includes covering the skin from sun exposure by using sunscreen and protective clothing and attending to vision problems by wearing glasses." +21332,How to prevent Shigellosis ?, +43031,Are there safety concerns or special precautions about Levofloxacin Injection ?, +18693,What is the outlook for Scorpion fish sting ?, +25101,What is (are) Posterior fossa tumor ?, +19323,What is the outlook for Facioscapulohumeral muscular dystrophy ?, +13159,What are the stages of Transitional Cell Cancer of the Renal Pelvis and Ureter ?,"Key Points + - After transitional cell cancer of the renal pelvis and ureter has been diagnosed, tests are done to find out if cancer cells have spread within the renal pelvis and ureter or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The following stages are used for transitional cell cancer of the renal pelvis and/or ureter: - Stage 0 (Papillary Carcinoma and Carcinoma in Situ) - Stage I - Stage II - Stage III - Stage IV - Transitional cell cancer of the renal pelvis and ureter is also described as localized, regional, or metastatic: - Localized - Regional - Metastatic + + + After transitional cell cancer of the renal pelvis and ureter has been diagnosed, tests are done to find out if cancer cells have spread within the renal pelvis and ureter or to other parts of the body. + The process used to find out if cancer has spread within the renal pelvis and ureter or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. It is important to know the stage in order to plan treatment. The following tests and procedures may be used in the staging process: - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - Ureteroscopy : A procedure to look inside the ureter and renal pelvis to check for abnormal areas. A ureteroscope is a thin, tube-like instrument with a light and a lens for viewing. The ureteroscope is inserted through the urethra into the bladder, ureter, and renal pelvis. A tool may be inserted through the ureteroscope to take tissue samples to be checked under a microscope for signs of disease. + + + There are three ways that cancer spreads in the body. + Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. + + + Cancer may spread from where it began to other parts of the body. + When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if transitional cell cancer of the ureter spreads to the lung, the cancer cells in the lung are actually ureter cancer cells. The disease is metastatic cancer of the ureter, not lung cancer. + + + The following stages are used for transitional cell cancer of the renal pelvis and/or ureter: + Stage 0 (Papillary Carcinoma and Carcinoma in Situ) In stage 0, abnormal cells are found in tissue lining the inside of the renal pelvis or ureter. These abnormal cells may become cancer and spread into nearby normal tissue. Stage 0 is divided into stage 0a and stage 0is, depending on the type of tumor: - Stage 0a may look like tiny mushrooms growing from the tissue lining the inside of the renal pelvis or ureter. Stage 0a is also called noninvasive papillary carcinoma. - Stage 0is is a flat tumor on the tissue lining the inside of the renal pelvis or ureter. Stage 0is is also called carcinoma in situ. Stage I In stage I, cancer has formed and spread through the lining of the renal pelvis and/or ureter, into the layer of connective tissue. Stage II In stage II, cancer has spread through the layer of connective tissue to the muscle layer of the renal pelvis and/or ureter. Stage III In stage III, cancer has spread: - From the renal pelvis to tissue or fat in the kidney; or - From the ureter to fat that surrounds the ureter. Stage IV In stage IV, cancer has spread to at least one of the following: - A nearby organ. - The layer of fat surrounding the kidney. - One or more lymph nodes. - Distant parts of the body, such as the lung, liver, or bone. + + + Transitional cell cancer of the renal pelvis and ureter is also described as localized, regional, or metastatic: + Localized The cancer is found only in the kidney. Regional The cancer has spread to tissues around the kidney and to nearby lymph nodes and blood vessels in the pelvis. Metastatic The cancer has spread to other parts of the body." +32908,Do you have information about Cerebrospinal fluid culture, +38655,What to do in case of emergency or overdose of Naltrexone ?, +16481,What are the treatments for Parathyroid adenoma ?, +17861,What is the outlook for Stools - pale or clay-colored ?, +22436,How to prevent Ehrlichiosis ?, +40895,What are the side effects or risks of Oxandrolone ?, +14700,What is (are) Bile Duct Diseases ?,"Your liver makes a digestive juice called bile. Your gallbladder stores it between meals. When you eat, your gallbladder pushes the bile into tubes called bile ducts. They carry the bile to your small intestine. The bile helps break down fat. It also helps the liver get rid of toxins and wastes. Different diseases can block the bile ducts and cause a problem with the flow of bile: - Gallstones, which can increase pressure in the gallbladder and cause a gallbladder attack. The pain usually lasts from one to several hours. - Cancer - Infections - Birth defects, such as biliary atresia. It is the most common reason for liver transplants in children in the United States. - Inflammation, which can cause scarring. Over time, this can lead to liver failure. NIH: National Institute of Diabetes and Digestive and Kidney Diseases" +25754,What is the outlook for Presbyopia ?, +44769,What other information should I know about Acetaminophen and Codeine ?, +37690,What are the brand names of Hepatitis A Vaccine ?, +5948,What is (are) Loeys-Dietz syndrome ?,"Loeys-Dietz syndrome is a connective tissue disorder that causes aortic aneurysms, widely spaced eyes (hypertelorism), cleft palate and/or split uvula (the little piece of flesh that hangs down in the back of the mouth) and twisting or spiraled arteries (arterial tortuosity). Other findings include craniosynostosis, extropia (eyes that turn outward), micrognathia, structural brain abnormalities, intellectual deficit, and congenital heart disease. Signs and symptoms vary among individuals. This condition is inherited in an autosomal dominant manner with variable clinical expression. This condition is called Loeys-Dietz syndrome type 1 when affected individuals have cleft palate, craniosynostosis, and/or hypertelorism. Individuals without these features are said to have Loeys-Dietz syndrome type 2. The disease is caused by mutations in the TGFBR1, the TGFBR2, the SMAD3 or the TGFB2 genes. It is important to have an early and adequate treatment for the heart problems because the chance for aortic dissection and other vascular problems may be high in some patients. Many specialists may be involved for the best managment of the patient." +1629,What are the treatments for spinal and bulbar muscular atrophy ?,These resources address the diagnosis or management of spinal and bulbar muscular atrophy: - Gene Review: Gene Review: Spinal and Bulbar Muscular Atrophy - Genetic Testing Registry: Bulbo-spinal atrophy X-linked - MedlinePlus Encyclopedia: Muscle Atrophy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care +35559,What are the brand names of Warfarin ?, +4561,How many people are affected by 3-hydroxy-3-methylglutaryl-CoA lyase deficiency ?,"HMG-CoA lyase deficiency is a rare condition; it has been reported in fewer than 100 individuals worldwide. Most people diagnosed with this disorder have been from Saudi Arabia, Portugal, or Spain." +32216,How to prevent Secondary systemic amyloidosis ?, +4631,How many people are affected by Allan-Herndon-Dudley syndrome ?,Allan-Herndon-Dudley syndrome appears to be a rare disorder. About 25 families with individuals affected by this condition have been reported worldwide. +14474,What is (are) Heart Failure ?,"Heart failure is a condition in which the heart can't pump enough blood to meet the body's needs. Heart failure does not mean that your heart has stopped or is about to stop working. It means that your heart is not able to pump blood the way it should. It can affect one or both sides of the heart. The weakening of the heart's pumping ability causes - Blood and fluid to back up into the lungs - The buildup of fluid in the feet, ankles and legs - called edema - Tiredness and shortness of breath Common causes of heart failure are coronary artery disease, high blood pressure and diabetes. It is more common in people who are 65 years old or older, African Americans, people who are overweight, and people who have had a heart attack. Men have a higher rate of heart failure than women. Your doctor will diagnose heart failure by doing a physical exam and heart tests. Treatment includes treating the underlying cause of your heart failure, medicines, and heart transplantation if other treatments fail. NIH: National Heart, Lung, and Blood Institute" +43202,What to do in case of emergency or overdose of Ciclesonide Nasal Spray ?, +24783,Do you have information about Dialysis - hemodialysis, +200,What is (are) Greenberg dysplasia ?,"Greenberg dysplasia is a severe condition characterized by specific bone abnormalities in the developing fetus. This condition is fatal before birth. The bones of affected individuals do not develop properly, causing a distinctive spotted appearance called moth-eaten bone, which is visible on x-ray images. In addition, the bones have abnormal calcium deposits (ectopic calcification). Affected individuals have extremely short bones in the arms and legs and abnormally flat vertebrae (platyspondyly). Other skeletal abnormalities may include short ribs and extra fingers (polydactyly). In addition, affected fetuses have extensive swelling of the body caused by fluid accumulation (hydrops fetalis). Greenberg dysplasia is also called hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM), which reflects the condition's most common features." +8252,What are the symptoms of 3-Hydroxyisobutyric aciduria ?,"What are the signs and symptoms of 3-Hydroxyisobutyric aciduria? The signs and symptoms of 3-hydroxyisobutyric aciduria vary but may include: Developmental delay Intellectual disability Failure to thrive Characteristic facial features including a long philtrum and small, low-set ears Unusually small head (microcephaly) Congenital brain abnormalities Nausea Diarrhea Dehydration Lethargy The severity of the condition can also vary significantly from person to person. Some affected people may only experience mild attacks of vomiting with normal development, while others experience failure to thrive with severe intellectual disability and early death. The Human Phenotype Ontology provides the following list of signs and symptoms for 3-Hydroxyisobutyric aciduria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aminoaciduria 90% Abnormality of the outer ear 50% Long philtrum 50% Triangular face 50% Aplasia/Hypoplasia of the cerebellum 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cerebral calcification 7.5% Cerebral cortical atrophy 7.5% Intrauterine growth retardation 7.5% Microcephaly 7.5% Seizures 7.5% Sloping forehead 7.5% Ventriculomegaly 7.5% Abnormal facial shape - Abnormality of neuronal migration - Autosomal recessive inheritance - Congenital intracerebral calcification - Episodic ketoacidosis - Failure to thrive - Lactic acidosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common." +6900,Is Peutz-Jeghers syndrome inherited ?,"Is Peutz-Jeghers syndrome inherited? Peutz-Jeghers syndrome (PJS) is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with PJS has a 50% chance with each pregnancy of passing along the altered gene to his or her child." +17713,What causes Sertoli-Leydig cell tumor ?, +14833,What is (are) Wounds and Injuries ?,"An injury is damage to your body. It is a general term that refers to harm caused by accidents, falls, hits, weapons, and more. In the U.S., millions of people injure themselves every year. These injuries range from minor to life-threatening. Injuries can happen at work or play, indoors or outdoors, driving a car, or walking across the street. Wounds are injuries that break the skin or other body tissues. They include cuts, scrapes, scratches, and punctured skin. They often happen because of an accident, but surgery, sutures, and stitches also cause wounds. Minor wounds usually aren't serious, but it is important to clean them. Serious and infected wounds may require first aid followed by a visit to your doctor. You should also seek attention if the wound is deep, you cannot close it yourself, you cannot stop the bleeding or get the dirt out, or it does not heal. Other common types of injuries include - Bruises - Burns - Dislocations - Fractures - Sprains and strains" +31017,What to do for Leg pain ?, +34600,What are the brand names of Carvedilol ?, +14699,What is (are) Tourette Syndrome ?,"If you have Tourette syndrome, you make unusual movements or sounds, called tics. You have little or no control over them. Common tics are throat-clearing and blinking. You may repeat words, spin, or, rarely, blurt out swear words. Tourette syndrome is a disorder of the nervous system. It often occurs with other problems, such as - Attention deficit hyperactivity disorder (ADHD) - Obsessive-compulsive disorder (OCD) - Anxiety - Depression The cause of Tourette syndrome is unknown. It is more common in boys than girls. The tics usually start in childhood and may be worst in the early teens. Many people eventually outgrow them. No treatment is needed unless the tics interfere with everyday life. Excitement or worry can make tics worse. Calm, focused activities may make them better. Medicines and talk therapy may also help. NIH: National Institute of Neurological Disorders and Stroke" +47402,Are there safety concerns or special precautions about Cephalexin ?, +36707,What should I know about storage and disposal of Moxifloxacin Ophthalmic ?, +6098,What are the treatments for Retroperitoneal fibrosis ?,"How might retroperitoneal fibrosis be treated? Treatment of retroperitoneal fibrosis may include: Corticosteroid therapy Tamoxifen Surgery Stents Corticosteroids are tried first. Dosing will be prescribed on a case by case basis, but doses often vary between 30 and 60 mg per day. Corticosteroids are then tapered slowly. Some people with retroperitoneal fibrosis may continue on low dose maintenance therapy for up to 2 years. If corticosteroid treatment doesn't work, a biopsy should be done to confirm the diagnosis. Other medicines to suppress the immune system, such as mycophenolate mofetil, methotrexate, azathioprine, cyclophosphamide or tamoxifen can be prescribed alone or in combination with corticosteroids. When medicine does not work, surgery and stents (draining tubes) are considered. Stents (drainage tubes) placed in the ureter or in the renal pelvis may provide short-term relief of the symptoms until the condition is surgically treated. Surgery aims to remove the mass and/or free the ureters." +39118,What are the side effects or risks of Orlistat ?, +22201,What is (are) Diabetes eye exams ?, +41490,Are there safety concerns or special precautions about Omega-3 Fatty Acids ?, +2358,"Is methemoglobinemia, beta-globin type inherited ?","This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder." +5883,What are the symptoms of Turner syndrome ?,"What are the signs and symptoms of Turner syndrome? There are various signs and symptoms of Turner syndrome, which can range from very mild to more severe. Short stature is the most common feature and usually becomes apparent by age 5. In early childhood, frequent middle ear infections are common and can lead to hearing loss in some cases. Most affected girls do not produce the necessary sex hormones for puberty, so they don't have a pubertal growth spurt, start their periods or develop breasts without hormone treatment. While most affected women are infertile, pregnancy is possible with egg donation and assisted reproductive technology. Intelligence is usually normal, but developmental delay, learning disabilities, and/or behavioral problems are sometimes present. Additional symptoms of Turner syndrome may include: a wide, webbed neck a low or indistinct hairline in the back of the head swelling (lymphedema) of the hands and feet broad chest and widely spaced nipples arms that turn out slightly at the elbow congenital heart defects or heart murmur scoliosis (curving of the spine) or other skeletal abnormalities kidney problems an underactive thyroid gland a slightly increased risk to develop diabetes, especially if older or overweight osteoporosis due to a lack of estrogen, (usually prevented by hormone replacement therapy). The Human Phenotype Ontology provides the following list of signs and symptoms for Turner syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the aorta 90% Aplasia/Hypoplasia of the nipples 90% Cubitus valgus 90% Enlarged thorax 90% Low posterior hairline 90% Polycystic ovaries 90% Short stature 90% Abnormal dermatoglyphics 50% Abnormal localization of kidney 50% Abnormality of the fingernails 50% Abnormality of the metacarpal bones 50% Hypoplastic toenails 50% Melanocytic nevus 50% Secondary amenorrhea 50% Webbed neck 50% Atria septal defect 7.5% Atypical scarring of skin 7.5% Cognitive impairment 7.5% Cystic hygroma 7.5% Delayed skeletal maturation 7.5% Lymphedema 7.5% Ptosis 7.5% Reduced bone mineral density 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common." +30405,Do you have information about Urine 24-hour volume, +47085,What important warning or information should I know about Docetaxel Injection ?, +26818,What is (are) Addison disease ?, +45835,What to do in case of emergency or overdose of Methylphenidate ?, +6747,Is Tracheobronchomalacia inherited ?,"Is tracheobronchomalacia inherited? Primary tracheobronchomalacia (TBM) is often associated with certain genetic conditions. In some cases, an affected person inherits the condition from an affected parent. Other cases may result from new (de novo) gene mutations. These cases occur in people with no history of the disorder in their family. When TBM is part of a genetic condition, it can be passed on to future generations. Secondary TBM (also called acquired TBM) is not inherited. It generally occurs incidentally due to trauma, chronic inflammation and/or prolonged compression of the airways." +19421,How to prevent Basal cell skin cancer ?, +17450,What is (are) Meningitis ?, +23793,What is (are) Cobalt poisoning ?, +12492,Are there interactions between Stevia and other medications ?, +5179,What are the treatments for cardiofaciocutaneous syndrome ?,These resources address the diagnosis or management of cardiofaciocutaneous syndrome: - Gene Review: Gene Review: Cardiofaciocutaneous Syndrome - Genetic Testing Registry: Cardiofaciocutaneous syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care +12349,Are there interactions between Lactobacillus and herbs and supplements ?, +43763,What to do in case of emergency or overdose of Lacosamide ?, +31265,How to diagnose Double aortic arch ?, +740,What is (are) cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ?,"Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, commonly known as CARASIL, is an inherited condition that causes stroke and other impairments. Abnormalities affecting the brain and other parts of the nervous system become apparent in an affected person's twenties or thirties. Often, muscle stiffness (spasticity) in the legs and problems with walking are the first signs of the disorder. About half of affected individuals have a stroke or similar episode before age 40. As the disease progresses, most people with CARASIL also develop mood and personality changes, a decline in thinking ability (dementia), memory loss, and worsening problems with movement. Other characteristic features of CARASIL include premature hair loss (alopecia) and attacks of low back pain. The hair loss often begins during adolescence and is limited to the scalp. Back pain, which develops in early to mid-adulthood, results from the breakdown (degeneration) of the discs that separate the bones of the spine (vertebrae) from one another. The signs and symptoms of CARASIL worsen slowly with time. Over the course of several years, affected individuals become less able to control their emotions and communicate with others. They increasingly require help with personal care and other activities of daily living; after a few years, they become unable to care for themselves. Most affected individuals die within a decade after signs and symptoms first appear, although few people with the disease have survived for 20 to 30 years." +29563,What is the outlook for Eye pain ?, +12428,Are there interactions between Green Coffee and other medications ?, +13948,How to diagnose Arrhythmia ?,"Arrhythmias can be hard to diagnose, especially the types that only cause symptoms every once in a while. Doctors diagnose arrhythmias based on medical and family histories, a physical exam, and the results from tests and procedures. + +Specialists Involved + +Doctors who specialize in the diagnosis and treatment of heart diseases include: + +Cardiologists. These doctors diagnose and treat adults who have heart problems. + +Pediatric cardiologists. These doctors diagnose and treat babies, children, and youth who have heart problems. + +Electrophysiologists. These doctors are cardiologists or pediatric cardiologists who specialize in arrhythmias. + +Medical and Family Histories + +To diagnose an arrhythmia, your doctor may ask you to describe your symptoms. He or she may ask whether you feel fluttering in your chest and whether you feel dizzy or light-headed. + +Your doctor also may ask whether you have other health problems, such as a history of heart disease, high blood pressure, diabetes, or thyroid problems. He or she may ask about your family's medical history, including whether anyone in your family: + +Has a history of arrhythmias + +Has ever had heart disease or high blood pressure + +Has died suddenly + +Has other illnesses or health problems + +Your doctor will likely want to know what medicines you're taking, including over-the-counter medicines and supplements. + +Your doctor may ask about your health habits, such as physical activity, smoking, or using alcohol or drugs (for example, cocaine). He or she also may want to know whether you've had emotional stress or anger. + +Physical Exam + +During a physical exam, your doctor may: + +Listen to the rate and rhythm of your heartbeat + +Listen to your heart for a heart murmur (an extra or unusual sound heard during your heartbeat) + +Check your pulse to find out how fast your heart is beating + +Check for swelling in your legs or feet, which could be a sign of an enlarged heart or heart failure + +Look for signs of other diseases, such as thyroid disease, that could be causing the problem + +Diagnostic Tests and Procedures + +EKG (Electrocardiogram) + +An EKG is a simple, painless test that detects and records the heart's electrical activity. It's the most common test used to diagnose arrhythmias. + +An EKG shows how fast the heart is beating and its rhythm (steady or irregular). It also records the strength and timing of electrical signals as they pass through the heart. + +A standard EKG only records the heartbeat for a few seconds. It won't detect arrhythmias that don't happen during the test. + +To diagnose arrhythmias that come and go, your doctor may have you wear a portable EKG monitor. The two most common types of portable EKGs are Holter and event monitors. + +Holter and Event Monitors + +A Holter monitor records the heart's electrical signals for a full 24- or 48-hour period. You wear one while you do your normal daily activities. This allows the monitor to record your heart for a longer time than a standard EKG. + +An event monitor is similar to a Holter monitor. You wear an event monitor while doing your normal activities. However, an event monitor only records your heart's electrical activity at certain times while you're wearing it. + +For many event monitors, you push a button to start the monitor when you feel symptoms. Other event monitors start automatically when they sense abnormal heart rhythms. + +Some event monitors are able to send data about your heart's electrical activity to a central monitoring station. Technicians at the station review the information and send it to your doctor. You also can use the device to report any symptoms you're having. + +You can wear an event monitor for weeks or until symptoms occur. + +Other Tests + +Other tests also are used to help diagnose arrhythmias. + +Blood tests. Blood tests check the level of substances in the blood, such as potassium and thyroid hormone. Abnormal levels of these substances can increase your chances of having an arrhythmia. + +Chest x ray. A chest x ray is a painless test that creates pictures of the structures in your chest, such as your heart and lungs. This test can show whether your heart is enlarged. + +Echocardiography. This test uses sound waves to create a moving picture of your heart. Echocardiography (echo) provides information about the size and shape of your heart and how well your heart chambers and valves are working. + +The test also can identify areas of poor blood flow to the heart, areas of heart muscle that aren't contracting normally, and previous injury to the heart muscle caused by poor blood flow. + +There are several types of echo, including stress echo. This test is done both before and after a stress test (see below). A stress echo usually is done to find out whether you have decreased blood flow to your heart, a sign of coronary heart disease (CHD). + +A transesophageal (tranz-ih-sof-uh-JEE-ul) echo, or TEE, is a special type of echo that takes pictures of the heart through the esophagus. The esophagus is the passage leading from your mouth to your stomach. + +Stress test. Some heart problems are easier to diagnose when your heart is working hard and beating fast. During stress testing, you exercise to make your heart work hard and beat fast while heart tests are done. If you can't exercise, you may be given medicine to make your heart work hard and beat fast. + +The heart tests done during stress testing may include nuclear heart scanning, echo, and positron emission tomography (PET) scanning of the heart. + +Electrophysiology study (EPS). This test is used to assess serious arrhythmias. During an EPS, a thin, flexible wire is passed through a vein in your groin (upper thigh) or arm to your heart. The wire records your heart's electrical signals. + +Your doctor can use the wire to electrically stimulate your heart and trigger an arrhythmia. This allows your doctor to see whether an antiarrhythmia medicine can stop the problem. + +Catheter ablation, a procedure used to treat some arrhythmias, may be done during an EPS. + +Tilt table testing. This test sometimes is used to help find the cause of fainting spells. You lie on a table that moves from a lying down to an upright position. The change in position may cause you to faint. + +Your doctor watches your symptoms, heart rate, EKG reading, and blood pressure throughout the test. He or she may give you medicine and then check your response to the medicine. + +Coronary angiography. Coronary angiography uses dye and special x rays to show the inside of your coronary arteries. To get the dye into your coronary arteries, your doctor will use a procedure called cardiac catheterization (KATH-e-ter-ih-ZA-shun). + +A thin, flexible tube called a catheter is put into a blood vessel in your arm, groin (upper thigh), or neck. The tube is threaded into your coronary arteries, and the dye is released into your bloodstream. + +Special x rays are taken while the dye is flowing through your coronary arteries. The dye lets your doctor study the flow of blood through your heart and blood vessels. This helps your doctor find blockages that can cause a heart attack. + +Implantable loop recorder. This device detects abnormal heart rhythms. Minor surgery is used to place this device under the skin in the chest area. + +An implantable loop recorder helps doctors figure out why a person may be having palpitations or fainting spells, especially if these symptoms don't happen very often. The device can be used for as long as 12 to 24 months." +5749,What are the treatments for Sideroblastic anemia ?,"How might sideroblastic anemia be treated? The treatment of sideroblastic anemia is directed at controlling symptoms of anemia and preventing organ damage from iron overload. Many patients see improvement with increased vitamin B6 intake - either through diet (potatoes, bananas, raisin bran cereal, lentils, liver, turkey, and tuna are good sources) or supplements - with red blood cell counts returning to near-normal values. Folic acid supplementation may also be beneficial. Those that do not respond to vitamin supplementation require blood transfusion. A few small studies have described the use of allogenic bone marrow or stem cell transplantation for hereditary and congenital forms of sideroblastic anemia. While these therapies may offer the possibility of a cure, the complications associated with transplantation surgery must be considered. All patients with sideroblastic anemia should be followed by a hematologist and avoid alcohol." +46531,Are there safety concerns or special precautions about Ganciclovir ?, +36484,What other information should I know about Raloxifene ?, +12117,Are there interactions between Honey and herbs and supplements ?, +19544,What is the outlook for Cystic fibrosis ?, +11805,What are the treatments for Refsum Disease ?,"The primary treatment for ARD is to restrict or avoid foods that contain phytanic acid, including dairy products; beef and lamb; and fatty fish such as tuna, cod, and haddock. Some individuals may also require plasma exchange (plasmapheresis) in which blood is drawn, filtered, and reinfused back into the body, to control the buildup of phytanic acid." +7795,What is (are) Sotos syndrome ?,"Sotos syndrome is a condition characterized mainly by distinctive facial features; overgrowth in childhood; and learning disabilities or delayed development. Facial features may include a long, narrow face; a high forehead; flushed (reddened) cheeks; a small, pointed chin; and down-slanting palpebral fissures. Affected infants and children tend to grow quickly; they are significantly taller than their siblings and peers and have a large head. Other signs and symptoms may include intellectual disability; behavioral problems; problems with speech and language; and/or weak muscle tone (hypotonia). Sotos syndrome is usually caused by a mutation in the NSD1 gene and is inherited in an autosomal dominant manner. About 95% of cases are due to a new mutation in the affected person and occur sporadically (are not inherited)." +27897,What are the treatments for Achilles tendinitis ?, +44964,What should I do if I forget a dose of Sipuleucel-T Injection ?, +25766,What is (are) Encephalitis ?, +5674,What are the treatments for Adult-onset vitelliform macular dystrophy ?,"How might adult-onset vitelliform macular dystrophy be treated? Management for this condition should include a comprehensive eye examination, including dilation, once or twice a year to rule out any possible complications. If vision is impaired, patients should be referred for low vision testing and rehabilitation. Intravitreal injections of either Ranibizumab or Bevacizumab may be effective in the short-term. Transcorneal electrical stimulation has also been found to improve visual acuity in individuals with this condition." +6072,What are the treatments for Ledderhose disease ?,"How might Ledderhose disease be treated? There is little evidence regarding the effectiveness of specific treatment approaches for Ledderhose disease. Initial treatment approach may invovle regular (monthly or less often) glucocorticoid injection and soft shoe inserts with cutouts for the nodules. Surgery, such as selective fasciectomy or dermofasciectomy, has been used as treatment of people who do not respond to initial therapy. Recurrence following surgery is common. Collagenase injection is an additional therapy which has been used with variable sucess. Our search identified one case report describing the use of ""upper lateral arm flaps"" on the feet of two brother's who had multiple recurrences following other procedures. The reference for this article is provided below. Kan HJ, Hovius SE. Long-term follow-up of flaps for extensive Dupuytren's and Ledderhose disease in one family. J Plast Reconstr Aesthet Surg. 2012 December;65(12):1741-5. The International Dupyytren Society provides futher information on treatment options for Ledderhose disease at the following link: http://www.dupuytren-online.info/ledderhose_therapies.html We strongly recommend that you review this information with your healthcare providers. Only a healthcare provider can help you make decisions regarding which treatment approach may be best for you." +33452,What causes Urine Blockage in Newborns ?,"Many types of defects in the urinary tract can cause urine blockage: + +- Vesicoureteral reflux (VUR). Most children with VUR are born with a ureter that did not grow long enough during development in the womb. The valve formed by the ureter pressing against the bladder wall does not close properly, so urine backs uprefluxesfrom the bladder to the ureter and eventually to the kidney. Severe reflux may prevent a kidney from developing normally and may increase the risk for damage from infections after birth. VUR usually affects only one ureter and kidney, though it can affect both ureters and kidneys. - Ureteropelvic junction (UPJ) obstruction. If urine is blocked where the ureter joins the kidney, only the kidney swells. The ureter remains a normal size. UPJ obstruction usually occurs in only one kidney. + +- Bladder outlet obstruction (BOO). BOO describes any blockage in the urethra or at the opening of the bladder.Posterior urethral valves (PUV), the most common form of BOO seen in newborns and during prenatal ultrasound exams, is a birth defect in boys in which an abnormal fold of tissue in the urethra keeps urine from flowing freely out of the bladder. This defect may cause swelling in the entire urinary tract, including the urethra, bladder, ureters, and kidneys. - Ureterocele. If the end of the ureter does not develop normally, it can bulge, creating a ureterocele. The ureterocele may obstruct part of the ureter or the bladder. + +Some babies are born with genetic conditions that affect several different systems in the body, including the urinary tract: + +- Prune belly syndrome (PBS). PBS is a group of birth defects involving poor development of the abdominal muscles, enlargement of the ureters and bladder, and both testicles remaining inside the body instead of descending into the scrotum. The skin over the abdomen is wrinkled, giving the appearance of a prune. PBS usually occurs in boys, and most children with PBS have hydronephrosisswelling in the kidneyand VUR. - Esophageal atresia (EA). EA is a birth defect in which the esophagusthe muscular tube that carries food and liquids from the mouth to the stomachlacks the opening for food to pass into the stomach. Babies born with EA may also have problems with their spinal columns, digestive systems, hearts, and urinary tracts. - Congenital heart defects. Heart defects range from mild to life threatening. Children born with heart defects also have a higher rate of problems in the urinary tract than children in the general population, suggesting that some types of heart and urinary defects may have a common genetic cause. + +Urine blockage can also be caused by spina bifida and other birth defects that affect the spinal cord. These defects may interrupt nerve signals between the bladder, spinal cord, and brain, which are needed for urination, and lead to urinary retentionthe inability to empty the bladder completelyin newborns. Urine that remains in the bladder can reflux into the ureters and kidneys, causing swelling." +30375,Do I need to see a doctor for Bicuspid aortic valve ?, +10813,What are the symptoms of Diffuse gastric cancer ?,"What are the signs and symptoms of Diffuse gastric cancer? Signs and symptoms of gastric cancer may include indigestion, stomach discomfort, bloating, mild nausea, loss of appetite, and heartburn. In more advanced stages of gastric cancer signs and symptoms may include bloody stool, vomiting, weight loss, stomach pain, jaundice, ascites (fluid in the abdomen), and trouble swallowing. The Human Phenotype Ontology provides the following list of signs and symptoms for Diffuse gastric cancer. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Chronic atrophic gastritis - Stomach cancer - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common." +41583,How should Testosterone Nasal Gel be used and what is the dosage ?, +5281,How many people are affected by GRACILE syndrome ?,"GRACILE syndrome is found almost exclusively in Finland, where it is estimated to affect 1 in 47,000 infants. At least 32 affected infants have been described in the medical literature." +46221,What other information should I know about Dexamethasone Ophthalmic ?, +16978,What are the treatments for Legionnaire disease ?, +929,What are the treatments for Stevens-Johnson syndrome/toxic epidermal necrolysis ?,These resources address the diagnosis or management of Stevens-Johnson syndrome/toxic epidermal necrolysis: - Genetic Testing Registry: Stevens-Johnson syndrome - Genetic Testing Registry: Toxic epidermal necrolysis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care +25902,What is the outlook for After vaginal delivery - in the hospital ?, +28561,What are the treatments for Adjustment disorder ?, +7620,What are the symptoms of Inclusion body myositis ?,"What are the signs and symptoms of Inclusion body myositis? The Human Phenotype Ontology provides the following list of signs and symptoms for Inclusion body myositis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autoimmunity 90% EMG abnormality 90% Skeletal muscle atrophy 90% Feeding difficulties in infancy 50% Myalgia 7.5% Autosomal dominant inheritance - Dysphagia - Hyporeflexia - Inflammatory myopathy - Phenotypic variability - Proximal muscle weakness - Rimmed vacuoles - Slow progression - Sporadic - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common." +7851,What are the symptoms of Metaphyseal dysplasia maxillary hypoplasia brachydactyly ?,"What are the signs and symptoms of Metaphyseal dysplasia maxillary hypoplasia brachydactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Metaphyseal dysplasia maxillary hypoplasia brachydactyly. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of dental color 90% Brachydactyly syndrome 90% Convex nasal ridge 90% Short philtrum 90% Short stature 90% Thin vermilion border 90% Abnormal form of the vertebral bodies 50% Abnormality of the femur 50% Abnormality of the humerus 50% Camptodactyly of finger 50% Craniofacial hyperostosis 50% Reduced bone mineral density 50% Cerebral cortical atrophy 7.5% Recurrent fractures 7.5% Autosomal dominant inheritance - Flared metaphysis - Hypoplasia of the maxilla - Metaphyseal dysplasia - Multiple small vertebral fractures - Osteoporosis of vertebrae - Platyspondyly - Premature loss of teeth - Short 5th metacarpal - Short middle phalanx of the 2nd finger - Short middle phalanx of the 5th finger - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common." +31813,What is the outlook for Chlamydia ?, +20471,What is the outlook for Hip flexor strain - aftercare ?, +8657,What are the symptoms of Renal nutcracker syndrome ?,"What are the signs and symptoms of renal nutcracker syndrome? The signs and symptoms of renal nutcracker syndrome and the disease severity can vary from person to person. Some affected people may be asymptomatic while others have severe and persistent symptoms. Symptoms are often aggravated by physical activity. When present, symptoms of the condition may include blood in the urine (hematuria), orthostatic proteinuria, flank pain and/or abdominal pain. Some people may also experience orthostatic intolerance, which is characterized by symptoms such as light-headedness, palpitations, poor concentration, fatigue, nausea, dizziness, headache, sweating, weakness and occasionally fainting when upright standing. Men who are affected by renal nutcracker syndrome may develop a varicocele. Affected women may have gynecological symptoms such as dyspareunia and dysmenorrhea (painful periods)." +42015,What other information should I know about Denosumab Injection ?, +44497,Are there safety concerns or special precautions about Desoximetasone Topical ?, +41128,What are the side effects or risks of Dabigatran ?, +23100,Do I need to see a doctor for Chronic obstructive pulmonary disease ?, +3454,What are the treatments for hereditary neuralgic amyotrophy ?,These resources address the diagnosis or management of hereditary neuralgic amyotrophy: - Gene Review: Gene Review: Hereditary Neuralgic Amyotrophy - Genetic Testing Registry: Hereditary neuralgic amyotrophy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care +15819,What are the complications of Dengue hemorrhagic fever ?, +39106,How should Alvimopan be used and what is the dosage ?, +1125,What is (are) glycogen storage disease type VII ?,"Glycogen storage disease type VII (GSDVII) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. A lack of glycogen breakdown interferes with the function of muscle cells. There are four types of GSDVII. They are differentiated by their signs and symptoms and the age at which symptoms first appear. The classical form of GSDVII is the most common form. Its features usually appear in childhood. This form is characterized by muscle pain and cramps, often following moderate exercise; strenuous exercise can lead to nausea and vomiting. During exercise, muscle tissue can be abnormally broken down, releasing a protein called myoglobin. This protein is processed by the kidneys and released in the urine (myoglobinuria). If untreated, myoglobinuria can damage the kidneys and lead to kidney failure. Some people with the classical form of GSDVII develop high levels of a waste product called uric acid in the blood (hyperuricemia) because the damaged kidneys are unable to remove uric acid effectively. Affected individuals may also have elevated levels of a molecule called bilirubin in the blood that can cause yellowing of the skin and whites of the eyes (jaundice). Individuals with classical GSDVII often have elevated levels of an enzyme called creatine kinase in their blood. This finding is a common indicator of muscle disease. Infants with the severe infantile form of GSDVII have low muscle tone (hypotonia) at birth, which leads to muscle weakness (myopathy) that worsens over time. Affected infants have a weakened and enlarged heart (cardiomyopathy) and difficulty breathing normally. Individuals with this form of GSDVII usually do not survive past their first year of life. In the late-onset form of GSDVII, myopathy is typically the only feature. The muscle weakness appears in adulthood, although some individuals have difficulty with sustained exercise starting in childhood. The weakness generally affects the muscles closest to the center of the body (proximal muscles). The hemolytic form of GSDVII is characterized by hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, causing a shortage of red blood cells (anemia). People with the hemolytic form of GSDVII do not experience any signs or symptoms of muscle pain or weakness related to the disorder." +11551,what research (or clinical trials) is being done for Restless Legs Syndrome ?,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct and support RLS research in laboratories at the NIH and at major medical institutions across the country. The goal of this research is to increase scientific understanding of RLS, find improved methods of diagnosing and treating the syndrome, and discover ways to prevent it." +31641,Do I need to see a doctor for Pelvic inflammatory disease (PID) ?, +24674,What are the treatments for Morning sickness ?, +42423,Are there safety concerns or special precautions about Crofelemer ?, +10853,What are the treatments for Infantile Refsum Disease ?,"The primary treatment for IRD is to avoid foods that contain phytanic acid, including dairy products; beef and lamb; and fatty fish such as tuna, cod, and haddock. Although this prevents the accumulation of phytanic acid, it does not address the accumulation of very long chain fatty acids, and the deficiency of bile acids and plasmalogens." +43075,What are the side effects or risks of Lorazepam ?, +27448,Do I need to see a doctor for Hypothalamic dysfunction ?, +47047,What are the side effects or risks of Dexamethasone Oral ?, +40530,What special dietary instructions should I follow with Isosorbide ?, +10852,What is (are) Infantile Refsum Disease ?,"Infantile Refsum disease (IRD) is a medical condition within the Zellweger spectrum of perixisome biogenesis disorders (PBDs), inherited genetic disorders that damage the white matter of the brain and affect motor movements. PBDs are part of a larger group of disorders called the leukodystrophies. The Zellweger spectrum of PBDs include related, but not more severe, disorders referred to as Zellweger syndrome (ZS) and neonatal adrenoleukodystrophy. Collectively, these disorders are caused by inherited defects in any one of 12 genes, called PEX genes, which are required for the normal formation and function of peroxisomes. Peroxisomes are cell structures required for the normal formation and function of the brain, eyes, liver, kidneys, and bone. They contain enzymes that break down toxic substances in the cells, including very long chain fatty acids and phytanic acid (a type of fat found in certain foods), and synthesize certain fatty materials (lipids) that are required for cell function. When peroxisomes are not functioning, there is over-accumulation of very long chain fatty acids and phytanic acid, and a lack of bile acids and plasmalogens--specialized lipids found in cell membranes and the myelin sheaths and encase and protect nerve fibers.. IRD has some residual perixisome function, resulting in less severe disease than in Zellweger syndrome. Symptoms of IRD begin in infancy with retinitis pigmentosa, a visual impairment that often leads to blindness, and hearing problems that usually progress to deafness by early childhood. Other symptoms may include rapid, jerky eye movements (nystagmus); floppy muscle tone (hypotonia) and lack of muscle coordination (ataxia); mental and growth disabilities; abnormal facial features; enlarged liver; and white matter abnormalities of brain myelin. At the mildest extreme of the disorder, intellect may be preserved. Although Adult Refsum disease and IRD have similar names, they are separate disorders caused by different gene defects." +288,Is Aicardi syndrome inherited ?,"Nearly all known cases of Aicardi syndrome are sporadic, which means that they are not passed down through generations and occur in people with no history of the disorder in their family. The disorder is believed to result from new gene mutations. Aicardi syndrome is classified as an X-linked dominant condition. While the gene associated with this disorder is not known, it is believed to be located on the X chromosome. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell is nearly always lethal very early in development, so almost all babies with Aicardi syndrome are female. However, a few affected males with an extra copy of the X chromosome in each cell (47,XXY) have been identified. Males with a 47,XXY chromosome pattern also have a condition called Klinefelter syndrome." +43819,What to do in case of emergency or overdose of Ivermectin ?, +12078,Are there interactions between Mangosteen and foods ?, +20598,What is (are) Malocclusion of teeth ?, +16127,How to diagnose Cystic hygroma ?, +27539,What are the symptoms of Olivopontocerebellar atrophy ?, +24891,What are the symptoms of Skin abscess ?, +45862,What are the side effects or risks of Meningococcal Vaccines ?, +23345,What to do for Knee pain ?, +12302,Are there interactions between Goji and foods ?, +42839,What should I know about storage and disposal of Etodolac ?, +9596,What causes Myelodysplastic/myeloproliferative disease ?,"What causes myelodysplastic/myeloproliferative disease? In most cases, the cause of myelodysplastic/myeloproliferative disease is unknown, and there is limited information regarding potential causes. No specific genetic defects have been identified for any of the diseases. The specific cause of chronic myelomonocytic leukemia (CMML) is unknown, but exposure to occupational and environmental carcinogens (agents that can cause cancer), ionizing radiation, and cytotoxic agents (agents that are toxic to cells) have been associated in some cases. The cause of juvenile myelomonocytic leukemia (JMML) is not known; however, children with neurofibromatosis type 1 (NF1) are at increased risk for developing JMML, and up to 14% of cases of JMML occur in children with NF1. Atypical chronic myelogenous leukemia (aCML) has been associated with cytogenetic (chromosomal) abnormalities in as many as 80% of individuals with the disease; however, no cytogenetic abnormality is specific. Myelodysplastic/myeloproliferative neoplasm, unclassifiable (MDS/ MPN-UC) (also known as mixed myeloproliferative/ myelodysplastic syndrome) also has no known cause." +18893,What is (are) Gastrostomy feeding tube - pump - child ?, +41790,What other information should I know about Almotriptan ?, +35524,What are the side effects or risks of Venlafaxine ?, +20838,What are the treatments for Acute kidney failure ?, +11085,What are the treatments for Creutzfeldt-Jakob Disease ?,"There is no treatment that can cure or control CJD, although studies of a variety of drugs are now in progress. Current treatment is aimed at alleviating symptoms and making the person as comfortable as possible. Opiate drugs can help relieve pain, and the drugs clonazepam and sodium valproate may help relieve involuntary muscle jerks.Intravenous fluids and artificial feeding may be needed in later stages of the disease." +44567,What other information should I know about Eltrombopag ?, +8242,What is (are) Intracranial arteriovenous malformation ?,"Intracranial arteriovenous malformations (AVMs) are abnormal connections between the arteries and veins in the brain. Most people with brain or spinal AVMs experience few, if any, major symptoms. About 12 percent of people with this condition experience symptoms that vary greatly in severity. Seizures and headaches are the most common symptoms of AVMs but individuals can also experience a wide range of other neurological symptoms. AVMs can cause hemorrhage (bleeding) in the brain, which can be fatal. Symptoms can appear at any age, but are most often noticed when people are in their twenties, thirties, or forties. The cause of AVMs is not yet well understood but it is believed that AVMs result from mistakes that occur during embryonic or fetal development. Medication is used to treat general symptoms such as headache, back pain, and seizures caused by AVMs. However, the best treatment for AVMs is often surgery or sterotactic radiosurgery." +26079,What are the symptoms of Asherman syndrome ?, +19987,What is the outlook for Leprosy ?, +25207,What are the treatments for Renal vein thrombosis ?, +23805,Do I need to see a doctor for Roseola ?, +38645,What other information should I know about Levonorgestrel ?, +46602,What should I do if I forget a dose of Ibandronate ?, +25561,Do I need to see a doctor for Dextrocardia ?, +19278,What are the symptoms of Nephrotic syndrome ?, +27735,Do you have information about Laryngoscopy, +34442,What are the symptoms of IgA Nephropathy ?,"In its early stages, IgA nephropathy may have no symptoms; it can be silent for years or even decades. Once symptoms appear, the most common one is hematuria, or blood in the urine. Hematuria can be a sign of damaged glomeruli. Blood in the urine may appear during or soon after a cold, sore throat, or other respiratory infection. The amount of blood may be + +- visible with the naked eye. The urine may turn pink or the color of tea or cola. Sometimes a person may have dark or bloody urine. - so small that it can only be detected using special medical tests. + +Another symptom of IgA nephropathy is albuminuriawhen a persons urine contains an increased amount of albumin, a protein typically found in the blood, or large amounts of protein in the urine. Albumin is the main protein in the blood. Healthy kidneys keep most proteins in the blood from leaking into the urine. However, when the glomeruli are damaged, large amounts of protein leak out of the blood into the urine. + +When albumin leaks into the urine, the blood loses its capacity to absorb extra fluid from the body. Too much fluid in the body may cause edema, or swelling, usually in the legs, feet, or ankles and less often in the hands or face. Foamy urine is another sign of albuminuria. Some people with IgA nephropathy have both hematuria and albuminuria. + +After 10 to 20 years with IgA nephropathy, about 20 to 40 percent of adults develop end-stage kidney disease.5 Signs and symptoms of end-stage kidney disease may include + +- high blood pressure - little or no urination - edema - feeling tired - drowsiness - generalized itching or numbness - dry skin - headaches - weight loss - appetite loss - nausea - vomiting - sleep problems - trouble concentrating - darkened skin - muscle cramps" +43295,What should I know about storage and disposal of Cholestyramine Resin ?, +35622,What are the brand names of Imipramine ?, +27831,What are the symptoms of Multiple endocrine neoplasia (MEN) II ?, +35291,What other information should I know about Granisetron Transdermal Patch ?, +13306,What is the outlook for Anal Cancer ?,Certain factors affect the prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) depends on the following: - The size of the tumor. - Where the tumor is in the anus. - Whether the cancer has spread to the lymph nodes. The treatment options depend on the following: - The stage of the cancer. - Where the tumor is in the anus. - Whether the patient has human immunodeficiency virus (HIV). - Whether cancer remains after initial treatment or has recurred. +41698,What to do in case of emergency or overdose of Chlorthalidone ?, +3346,How many people are affected by mucopolysaccharidosis type III ?,"MPS III is the most common type of mucopolysaccharidosis; the estimated incidence of all four types combined is 1 in 70,000 newborns. MPS IIIA and MPS IIIB are much more common than MPS IIIC and MPS IIID." +23510,What causes Compartment syndrome ?, +631,How many people are affected by congenital bilateral absence of the vas deferens ?,This condition is responsible for 1 percent to 2 percent of all infertility in men. +17156,Do you have information about A guide to herbal remedies, +29941,How to diagnose Bronchiectasis ?, +45804,Are there safety concerns or special precautions about Ceftazidime and Avibactam Injection ?, +6500,What causes Isovaleric acidemia ?,"What causes isovaleric acidemia? Isovaleric acidemia is caused by mutations in the IVD gene. The IVD gene provides instructions for making an enzyme that plays an essential role in breaking down proteins from the diet. Specifically, this enzyme helps process the amino acid leucine, which is part of many proteins. If a mutation in the IVD gene reduces or eliminates the activity of this enzyme, the body is unable to break down leucine properly. As a result, an organic acid called isovaleric acid and related compounds build up to harmful levels in the body. This buildup damages the brain and nervous system, causing serious health problems." +2592,What are the genetic changes related to short QT syndrome ?,"Mutations in the KCNH2, KCNJ2, and KCNQ1 genes can cause short QT syndrome. These genes provide instructions for making channels that transport positively charged atoms (ions) of potassium out of cells. In cardiac muscle, these ion channels play critical roles in maintaining the heart's normal rhythm. Mutations in the KCNH2, KCNJ2, or KCNQ1 gene increase the activity of the channels, which enhances the flow of potassium ions across the membrane of cardiac muscle cells. This change in ion transport alters the electrical activity of the heart and can lead to the abnormal heart rhythms characteristic of short QT syndrome. Some affected individuals do not have an identified mutation in the KCNH2, KCNJ2, or KCNQ1 gene. Changes in other genes that have not been identified may cause the disorder in these cases." +41126,What special dietary instructions should I follow with Dabigatran ?, +2154,What are the treatments for Bartter syndrome ?,"These resources address the diagnosis or management of Bartter syndrome: - Genetic Testing Registry: Bartter syndrome antenatal type 1 - Genetic Testing Registry: Bartter syndrome antenatal type 2 - Genetic Testing Registry: Bartter syndrome type 3 - Genetic Testing Registry: Bartter syndrome type 4 - Genetic Testing Registry: Bartter syndrome, type 4b - Genetic Testing Registry: Bartter's syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care" +36160,What important warning or information should I know about Spironolactone ?, +14739,Do you have information about Health Fraud,"Summary : Health fraud involves selling drugs, devices, foods, or cosmetics that have not been proven effective. Keep in mind - if it sounds too good to be true, it's probably a scam. At best, these scams don't work. At worst, they're dangerous. They also waste money, and they might keep you from getting the treatment you really need. Health fraud scams can be found everywhere, promising help for many common health issues, including weight loss, memory loss, sexual performance, and joint pain. They target people with serious conditions like cancer, diabetes, heart disease, HIV/AIDS, arthritis, Alzheimer's, and many more. To protect yourself, recognize the red flags such as: - Miracle cure - Quick fix - Ancient remedy - Secret ingredient - Scientific breakthrough Before taking an unproven or little known treatment, talk to a doctor or health care professional - especially when taking prescription drugs. Food and Drug Administration" +30178,What are the treatments for Cervical cancer ?, +24146,What is (are) Hyperglycemia - infants ?, +21122,What are the symptoms of Diabetes insipidus - nephrogenic ?, +39958,Are there safety concerns or special precautions about Tacrolimus ?, +16007,What are the symptoms of Parainfluenza ?, +33848,What is (are) Anemia in Chronic Kidney Disease ?,"The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine. + +Healthy kidneys produce a hormone called erythropoietin (EPO). A hormone is a chemical produced by the body and released into the blood to help trigger or regulate particular body functions. EPO prompts the bone marrow to make red blood cells, which then carry oxygen throughout the body." +44119,Are there safety concerns or special precautions about Ceftriaxone Injection ?, +18760,What is the outlook for Cherry angioma ?, +35208,Are there safety concerns or special precautions about Phytonadione ?, +18960,What is (are) Phlegmasia cerulea dolens ?, +8814,What are the symptoms of Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features ?,"What are the signs and symptoms of Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features? The Human Phenotype Ontology provides the following list of signs and symptoms for Stargardt macular degeneration absent or hypoplastic corpus callosum mental retardation and dysmorphic features. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Agenesis of corpus callosum - Autosomal recessive inheritance - Broad eyebrow - Broad nasal tip - Clinodactyly of the 5th finger - Dental crowding - Full cheeks - High palate - Hypoplasia of the corpus callosum - Intellectual disability - Large earlobe - Macular degeneration - Pes planus - Pointed chin - Poor eye contact - Sensorineural hearing impairment - Smooth philtrum - Strabismus - Upslanted palpebral fissure - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common." +33118,How to prevent Parasites - Lice - Head Lice ?,"Head lice are spread most commonly by direct head-to-head (hair-to-hair) contact. However, much less frequently they are spread by sharing clothing or belongings onto which lice have crawled or nits attached to shed hairs may have fallen. The risk of getting infested by a louse that has fallen onto a carpet or furniture is very small. Head lice survive less than 1–2 days if they fall off a person and cannot feed; nits cannot hatch and usually die within a week if they are not kept at the same temperature as that found close to the scalp. + +The following are steps that can be taken to help prevent and control the spread of head lice: + + - Avoid head-to-head (hair-to-hair) contact during play and other activities at home, school, and elsewhere (sports activities, playground, slumber parties, camp). + - Do not share clothing such as hats, scarves, coats, sports uniforms, hair ribbons, or barrettes. + - Do not share combs, brushes, or towels. Disinfest combs and brushes used by an infested person by soaking them in hot water (at least 130°F) for 5–10 minutes. + - Do not lie on beds, couches, pillows, carpets, or stuffed animals that have recently been in contact with an infested person. + - Machine wash and dry clothing, bed linens, and other items that an infested person wore or used during the 2 days before treatment using the hot water (130°F) laundry cycle and the high heat drying cycle. Clothing and items that are not washable can be dry-cleaned OR sealed in a plastic bag and stored for 2 weeks. + - Vacuum the floor and furniture, particularly where the infested person sat or lay. However, spending much time and money on housecleaning activities is not necessary to avoid reinfestation by lice or nits that may have fallen off the head or crawled onto furniture or clothing. + - Do not use fumigant sprays or fogs; they are not necessary to control head lice and can be toxic if inhaled or absorbed through the skin. + + +To help control a head lice outbreak in a community, school, or camp, children can be taught to avoid activities that may spread head lice." +8300,"What are the symptoms of Tuberous sclerosis, type 1 ?","What are the signs and symptoms of Tuberous sclerosis, type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Tuberous sclerosis, type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Intellectual disability 30% Abnormality of the respiratory system - Achromatic retinal patches - Astrocytoma - Attention deficit hyperactivity disorder - Autism - Autosomal dominant inheritance - Cafe-au-lait spot - Cerebral calcification - Chordoma - Dental enamel pits - Ependymoma - Gingival fibromatosis - Hypomelanotic macule - Hypothyroidism - Infantile spasms - Optic glioma - Phenotypic variability - Precocious puberty - Premature chromatid separation - Projection of scalp hair onto lateral cheek - Renal angiomyolipoma - Renal cell carcinoma - Renal cyst - Shagreen patch - Specific learning disability - Subcutaneous nodule - Subependymal nodules - Subungual fibromas - Wolff-Parkinson-White syndrome - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common." +41876,What other information should I know about Tobramycin Injection ?, +14854,What is (are) Amblyopia ?,"Amblyopia, or ""lazy eye,"" is the most common cause of visual impairment in children. It happens when an eye fails to work properly with the brain. The eye may look normal, but the brain favors the other eye. In some cases, it can affect both eyes. Causes include - Strabismus - a disorder in which the two eyes don't line up in the same direction - Refractive error in an eye - when one eye cannot focus as well as the other, because of a problem with its shape. This includes nearsightedness, farsightedness, and astigmatism. - Cataract - a clouding in the lens of the eye It can be hard to diagnose amblyopia. It is often found during a routine vision exam. Treatment for amblyopia forces the child to use the eye with weaker vision. There are two common ways to do this. One is to have the child wear a patch over the good eye for several hours each day, over a number of weeks to months. The other is with eye drops that temporarily blur vision. Each day, the child gets a drop of a drug called atropine in the stronger eye. It is also sometimes necessary to treat the underlying cause. This could include glasses or surgery. NIH: National Eye Institute" +33586,What is (are) Solitary Kidney ?,"When a person has only one kidney or one working kidney, this kidney is called a solitary kidney. The three main causes of a solitary kidney are + +- birth defects. People with kidney agenesis are born with only one kidney. People born with kidney dysplasia have both kidneys; however, one kidney does not function. Many people with kidney agenesis or kidney dysplasia do not discover that they have a solitary kidney until they have an x ray, an ultrasound, or surgery for an unrelated condition. - surgical removal of a kidney. Some people must have a kidney removed to treat cancer or another disease or injury. When a kidney is removed surgically due to disease or for donation, both the kidney and ureter are removed. - kidney donation. A growing number of people are donating a kidney to be transplanted into a family member or friend whose kidneys have failed. + +In general, people with a solitary kidney lead full, healthy lives. However, some people are more likely to develop kidney disease." +36884,What special dietary instructions should I follow with Hydromorphone ?, +27693,What are the complications of SVC obstruction ?, +27234,What is (are) Aspergillosis ?, +5852,What are the symptoms of Woolly hair syndrome ?,"What are the signs and symptoms of Woolly hair syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Woolly hair syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Fine hair 90% Woolly hair 90% Hypopigmentation of hair 50% Slow-growing hair 50% Abnormal hair quantity 7.5% Abnormality of the pupil 7.5% Abnormality of the retinal vasculature 7.5% Aplasia/Hypoplasia of the eyebrow 7.5% Cataract 7.5% Strabismus 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common." +7979,What causes Multifocal choroiditis ?,"What causes multifocal choroiditis? Multifocal choroiditis occurs spontaneously and the cause is not currently known (idiopathic). It is possible that a bacterial or viral infection may trigger an immune response that causes the inflammation seen with MFC, though more research is needed in this area." +14676,What is (are) Elbow Injuries and Disorders ?,"Your elbow joint is made up of bone, cartilage, ligaments and fluid. Muscles and tendons help the elbow joint move. When any of these structures is hurt or diseased, you have elbow problems. Many things can make your elbow hurt. A common cause is tendinitis, an inflammation or injury to the tendons that attach muscle to bone. Tendinitis of the elbow is a sports injury, often from playing tennis or golf. You may also get tendinitis from overuse of the elbow. Other causes of elbow pain include sprains, strains, fractures, dislocations, bursitis and arthritis. Treatment depends on the cause." +37050,Who should get Pimozide and why is it prescribed ?, +20427,What to do for Muscle aches ?, +8000,What are the symptoms of Familial erythema nodosum ?,"What are the signs and symptoms of Familial erythema nodosum? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial erythema nodosum. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Erythema - Erythema nodosum - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common." +17390,Do I need to see a doctor for Aural polyps ?, +26177,What are the treatments for Cranial mononeuropathy III ?, +34650,What are the brand names of Pemetrexed Injection ?, +29560,What causes Eye pain ?, +25183,What are the treatments for Hurler syndrome ?, +33883,What is (are) Dumping Syndrome ?,"The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anusthe opening where stool leaves the body. The body digests food using the movement of muscles in the GI tract, along with the release of hormones and enzymes. The upper GI tract includes the mouth, esophagus, stomach, duodenum, and small intestine. The esophagus carries food and liquids from the mouth to the stomach. The stomach slowly pumps the food and liquids into the intestine, which then absorbs needed nutrients. Two digestive organs, the liver and the pancreas, produce digestive juices that reach the small intestine through small tubes called ducts. + +The last part of the GI tractcalled the lower GI tractconsists of the large intestine and anus. The large intestine is about 5 feet long in adults and absorbs water and any remaining nutrients from partially digested food passed from the small intestine. The large intestine then changes waste from liquid to a solid matter called stool. Stool passes from the colon to the rectum. The rectum is located between the last part of the coloncalled the sigmoid colonand the anus. The rectum stores stool prior to a bowel movement. During a bowel movement, stool moves from the rectum to the anus." +3528,Is renal hypouricemia inherited ?,"This condition is typically inherited in an autosomal recessive pattern, which means both copies of the SLC22A12 or SLC2A9 gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they usually do not show signs and symptoms of the condition. Sometimes, individuals with one SLC2A9 gene mutation in each cell have reduced levels of uric acid. The levels usually are not as low as they are in people who have mutations in both copies of the gene, and they often do not cause any signs or symptoms. Rarely, people who carry one copy of the mutated gene will develop uric acid kidney stones." +34757,Who should get Mirabegron and why is it prescribed ?, +34440,What causes IgA Nephropathy ?,"Scientists think that IgA nephropathy is an autoimmune kidney disease, meaning that the disease is due to the bodys immune system harming the kidneys. + +People with IgA nephropathy have an increased blood level of IgA that contains less of a special sugar, galactose, than normal. This galactose-deficient IgA is considered foreign by other antibodies circulating in the blood. As a result, these other antibodies attach to the galactose-deficient IgA and form a clump. This clump is also called an immune complex. Some of the clumps become stuck in the glomerulus of the nephron and cause inflammation and damage. + +For some people, IgA nephropathy runs in families. Scientists have recently found several genetic markers that may play a role in the development of the disease. IgA nephropathy may also be related to respiratory or intestinal infections and the immune systems response to these infections." +11131,what research (or clinical trials) is being done for Stroke ?,"The National Institute of Neurological Disorders and Stroke (NINDS) conducts stroke research and clinical trials at its laboratories and clinics at the National Institutes of Health (NIH), and through grants to major medical institutions across the country. Currently, NINDS researchers are studying the mechanisms of stroke risk factors and the process of brain damage that results from stroke. Basic research has also focused on the genetics of stroke and stroke risk factors. Scientists are working to develop new and better ways to help the brain repair itself to restore important functions. New advances in imaging and rehabilitation have shown that the brain can compensate for function lost as a result of stroke." +45663,What are the side effects or risks of Gefitinib ?, +29785,Do you have information about Tubal ligation, +9076,What is (are) Mastocytic enterocolitis ?,"Mastocytic enterocolitis is a term describing the condition of chronic, intractable diarrhea in people with normal colon or duodenum biopsy results, but with an increased number of mast cells in the colonic mucosa (the innermost layer of the colon). The increase in mast cells is not associated with systemic or cutaneous mastocytosis. It is unclear whether the accumulation of mast cells is a response to, or cause of, the mucosal inflammation that causes the symptoms of the condition. Most individuals with this condition respond well to drugs affecting mast cell function." +20568,Do you have information about Joint x-ray, +19177,What is (are) Septic arthritis ?, +37646,What should I do if I forget a dose of Phentermine ?, +20455,Do you have information about Hair spray poisoning, +26281,What to do for Hump behind the shoulders (Dorsocervical fat pad) ?, +20250,What are the treatments for Osteomyelitis ?, +5926,What is (are) Lymphatic filariasis ?,"Lymphatic filariasis is a parasitic disease caused by microscopic, thread-like worms that only live in the human lymph system, which maintains the body's fluid balance and fights infections. It is spread from person to person by mosquitoes. Most infected people are asymptomatic and never develop clinical symptoms. A small percentage of people develop lymphedema, which may affect the legs, arms, breasts, and genitalia; bacterial infections that cause hardening and thickening of the skin, called elephantiasis; hydrocele (swelling of the scrotum) in men; and pulmonary tropical eosinophilia syndrome. Treatment may include a yearly dose of medicine, called diethylcarbamazine (DEC); while this drug does not kill all of the adult worms, it prevents infected people from giving the disease to someone else." +20639,What is the outlook for Polymyalgia rheumatica ?, +37771,How should Talc Intrapleural be used and what is the dosage ?, +45041,What to do in case of emergency or overdose of Methylprednisolone Sodium Succinate Injection ?, +30385,How to prevent Atrial fibrillation or flutter ?, +5908,What are the symptoms of Baller-Gerold syndrome ?,"What are the signs and symptoms of Baller-Gerold syndrome? Many people with Baller-Gerold syndrome have prematurely fused skull bones along the coronal suture, the growth line that goes over the head from ear to ear. Other parts of the skull may be malformed as well. These changes result in an abnormally shaped head, a prominent forehead, and bulging eyes with shallow eye sockets (ocular proptosis). Other distinctive facial features can include widely spaced eyes (hypertelorism), a small mouth, and a saddle-shaped or underdeveloped nose. Bone abnormalities in the hands include missing fingers (oligodactyly) and malformed or absent thumbs. Partial or complete absence of bones in the forearm is also common. Together, these hand and arm abnormalities are called radial ray malformations. People with Baller-Gerold syndrome may have a variety of additional signs and symptoms including slow growth beginning in infancy, small stature, and malformed or missing kneecaps (patellae). A skin rash often appears on the arms and legs a few months after birth. This rash spreads over time, causing patchy changes in skin coloring, areas of skin tissue degeneration, and small clusters of enlarged blood vessels just under the skin. These chronic skin problems are collectively known as poikiloderma. The Human Phenotype Ontology provides the following list of signs and symptoms for Baller-Gerold syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the fontanelles or cranial sutures 90% Aplasia/Hypoplasia of the thumb 90% Frontal bossing 90% Proptosis 90% Short stature 90% Split hand 90% Aplasia/Hypoplasia involving the nose 50% Bowing of the long bones 50% Ectopic anus 50% Intrauterine growth retardation 50% Malabsorption 50% Narrow mouth 50% Patellar aplasia 50% Abnormal localization of kidney 7.5% Abnormality of the cardiac septa 7.5% Broad forehead 7.5% Cleft palate 7.5% Conductive hearing impairment 7.5% Epicanthus 7.5% Hypertelorism 7.5% Hypotelorism 7.5% Lymphoma 7.5% Narrow face 7.5% Narrow nasal bridge 7.5% Neoplasm of the skeletal system 7.5% Nystagmus 7.5% Poikiloderma 7.5% Prominent nasal bridge 7.5% Scoliosis 7.5% Urogenital fistula 7.5% Vesicoureteral reflux 7.5% Abnormality of cardiovascular system morphology - Abnormality of the kidney - Abnormality of the vertebrae - Absent radius - Agenesis of corpus callosum - Anal atresia - Anomalous splenoportal venous system - Anteriorly placed anus - Aphalangy of the hands - Aplasia of metacarpal bones - Autosomal recessive inheritance - Bicoronal synostosis - Bifid uvula - Brachyturricephaly - Carpal bone aplasia - Carpal synostosis - Choanal stenosis - Coronal craniosynostosis - Flat forehead - High palate - Hydrocephalus - Hypoplasia of the radius - Hypoplasia of the ulna - Intellectual disability - Lambdoidal craniosynostosis - Limited elbow movement - Limited shoulder movement - Low-set, posteriorly rotated ears - Midface capillary hemangioma - Myopia - Optic atrophy - Patellar hypoplasia - Perineal fistula - Polymicrogyria - Rectovaginal fistula - Rib fusion - Sagittal craniosynostosis - Seizures - Short humerus - Spina bifida occulta - Strabismus - Ulnar bowing - Underdeveloped nasal alae - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common." +13072,what research (or clinical trials) is being done for Childhood Hodgkin Lymphoma ?,"New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Proton beam radiation therapy Proton-beam therapy is a type of high-energy, external radiation therapy that uses streams of protons (small, positively-charged particles of matter) to make radiation. This type of radiation therapy may help lessen the damage to healthy tissue near the tumor. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials." +19628,What are the treatments for Disorder of written expression ?, +32207,Do I need to see a doctor for Psoriasis - guttate ?, +46270,What are the side effects or risks of Valrubicin Intravesical ?, +28694,How to prevent Laryngitis ?, +44718,"What are the side effects or risks of MMR Vaccine (Measles, Mumps, and Rubella) ?", +31312,Do you have information about Baking soda overdose, +1508,Is benign familial neonatal seizures inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. A few cases result from new mutations in the KCNQ2 gene. These cases occur in people with no history of benign familial neonatal seizures in their family." +28673,What is the outlook for Lactose intolerance ?, +5945,Is Cerebellar degeneration inherited ?,"Is cerebellar degeneration inherited? Cerebellar degeneration is associated with a variety of inherited and non-inherited conditions. One example of an inherited form of cerebellar degeneration is spinocerebellar ataxia (SCA), which refers to a group of conditions characterized by degenerative changes of the cerebellum, brain stem, and spinal cord. Depending on the type, SCA can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Other complex conditions such as multiple sclerosis and multisystem atrophy are also associated with cerebellar degeneration. These conditions are likely caused by the interaction of multiple genetic and environmental factors. Although complex conditions are not passed directly from parent to child, reports of familial forms exist. This suggests that a genetic susceptibility to these conditions can run in families. Many causes of cerebellar degeneration are acquired (non-genetic and non-inherited) including strokes, transmissible spongiform encephalopathies, chronic alcohol abuse and paraneoplastic disorders." +21287,Do I need to see a doctor for Colon cancer ?, +25486,What are the symptoms of Diabetes and eye disease ?, +13114,What is the outlook for Childhood Brain Stem Glioma ?,Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis and treatment options depend on: - The type of brain stem glioma. - Where the tumor is found in the brain and if it has spread within the brain stem. - The age of the child when diagnosed. - Whether or not the child has a condition called neurofibromatosis type 1. - Whether the tumor has just been diagnosed or has recurred (come back). +41015,What to do in case of emergency or overdose of Thiotepa Injection ?, +6876,What are the symptoms of Kuster Majewski Hammerstein syndrome ?,"What are the signs and symptoms of Kuster Majewski Hammerstein syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kuster Majewski Hammerstein syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormality of retinal pigmentation 90% Abnormality of the macula 90% Retinopathy 90% Split hand 90% Aplasia/Hypoplasia of the eyebrow 50% Carious teeth 50% Finger syndactyly 50% Microdontia 50% Reduced number of teeth 50% Strabismus 7.5% Autosomal recessive inheritance - Camptodactyly - Ectodermal dysplasia - Joint contracture of the hand - Macular dystrophy - Selective tooth agenesis - Sparse eyebrow - Sparse eyelashes - Sparse scalp hair - Syndactyly - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common." +44446,What special dietary instructions should I follow with Entecavir ?, +14995,What are the treatments for Age-related Macular Degeneration ?,"If You Have Advanced AMD Once dry AMD reaches the advanced stage, no form of treatment can prevent vision loss. However, treatment can delay and possibly prevent intermediate AMD from progressing to the advanced stage. The National Eye Institute's Age-Related Eye Disease Study found that taking certain vitamins and minerals may reduce the risk of developing advanced AMD. Wet AMD can be treated with laser surgery, photodynamic therapy, and injections into the eye. None of these treatments is a cure for wet AMD. The disease and loss of vision may progress despite treatment. Laser Surgery Laser surgery uses a laser to destroy the fragile, leaky blood vessels. Only a small percentage of people with wet AMD can be treated with laser surgery. Laser surgery is performed in a doctor's office or eye clinic. The risk of new blood vessels developing after laser treatment is high. Repeated treatments may be necessary. In some cases, vision loss may progress despite repeated treatments. Photodynamic Therapy With photodynamic therapy, a drug called verteporfin is injected into your arm. It travels throughout the body, including the new blood vessels in your eye. The drug tends to stick to the surface of new blood vessels. Next, the doctor shines a light into your eye for about 90 seconds. The light activates the drug. The activated drug destroys the new blood vessels and leads to a slower rate of vision decline. Unlike laser surgery, verteporfin does not destroy surrounding healthy tissue. Because the drug is activated by light, you must avoid exposing your skin or eyes to direct sunlight or bright indoor light for five days after treatment. Photodynamic therapy is relatively painless. It takes about 20 minutes and can be performed in a doctor's office. Photodynamic therapy slows the rate of vision loss. It does not stop vision loss or restore vision in eyes already damaged by advanced AMD. Treatment results often are temporary. You may need to be treated again. Drug Treatment for Wet AMD Wet AMD can now be treated with new drugs that are injected into the eye (anti-VEGF therapy). Abnormally high levels of a specific growth factor occur in eyes with wet AMD and promote the growth of abnormal new blood vessels. This drug treatment blocks the effects of the growth factor. You will need multiple injections that may be given as often as monthly. The eye is numbed before each injection. After the injection, you will remain in the doctor's office for a while and your eye will be monitored. This drug treatment can help slow down vision loss from AMD and in some cases improve sight. If You Have Low Vision If you have lost some sight from AMD, ask your eye care professional about low vision services and devices that may help you make the most of your remaining vision. Many community organizations and agencies offer information about low vision counseling and training and other special services for people with visual impairments. Research on AMD The National Eye Institute is conducting and supporting a number of studies to learn more about AMD. For example, scientists are - studying the possibility of transplanting healthy cells into a diseased retina - evaluating families with a history of AMD to understand genetic and hereditary factors that may cause the disease - looking at certain anti-inflammatory treatments for the wet form of AMD studying the possibility of transplanting healthy cells into a diseased retina evaluating families with a history of AMD to understand genetic and hereditary factors that may cause the disease looking at certain anti-inflammatory treatments for the wet form of AMD This research should provide better ways to detect, treat, and prevent vision loss in people with AMD." +28041,What is (are) Recovering after stroke ?, +33572,What to do for Cystocele ?,"Researchers have not found that eating, diet, and nutrition play a role in causing or preventing a cystocele." +29644,Who is at risk for Patent urachus repair? ?, +3191,How many people are affected by neuromyelitis optica ?,"Neuromyelitis optica affects approximately 1 to 2 per 100,000 people worldwide. Women are affected by this condition more frequently than men." +44344,What should I know about storage and disposal of Vancomycin Hydrochloride Injection ?, +11194,What is the outlook for SUNCT Headache ?,There is no cure for these headaches. The disorder is not fatal but can cause considerable discomfort. +247,What are the genetic changes related to cap myopathy ?,"Mutations in the ACTA1, TPM2, or TPM3 genes can cause cap myopathy. These genes provide instructions for producing proteins that play important roles in skeletal muscles. The ACTA1 gene provides instructions for making a protein called skeletal alpha ()-actin, which is part of the actin protein family. Actin proteins are important for cell movement and the tensing of muscle fibers (muscle contraction). Thin filaments made up of actin molecules and thick filaments made up of another protein called myosin are the primary components of muscle fibers and are important for muscle contraction. Attachment (binding) and release of the overlapping thick and thin filaments allows them to move relative to each other so that the muscles can contract. The mutation in the ACTA1 gene that causes cap myopathy results in an abnormal protein that may interfere with the proper assembly of thin filaments. The cap structures in muscle cells characteristic of this disorder are composed of disorganized thin filaments. The TPM2 and TPM3 genes provide instructions for making proteins that are members of the tropomyosin protein family. Tropomyosin proteins regulate muscle contraction by attaching to actin and controlling its binding to myosin. The specific effects of TPM2 and TPM3 gene mutations are unclear, but researchers suggest they may interfere with normal actin-myosin binding between the thin and thick filaments, impairing muscle contraction and resulting in the muscle weakness that occurs in cap myopathy." +40736,What other information should I know about Fluoxetine ?, +2196,How many people are affected by arginase deficiency ?,"Arginase deficiency is a very rare disorder; it has been estimated to occur once in every 300,000 to 1,000,000 individuals." +29640,Do you have information about Choroid, +4758,Is tetra-amelia syndrome inherited ?,"In most of the families reported so far, tetra-amelia syndrome appears to have an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with tetra-amelia syndrome each carry one copy of the mutated gene, but do not show signs and symptoms of the condition." +902,What are the genetic changes related to achondrogenesis ?,"Mutations in the TRIP11, SLC26A2, and COL2A1 genes cause achondrogenesis type 1A, type 1B, and type 2, respectively. The genetic cause of achondrogenesis type 1A was unknown until recently, when researchers discovered that the condition can result from mutations in the TRIP11 gene. This gene provides instructions for making a protein called GMAP-210. This protein plays a critical role in the Golgi apparatus, a cell structure in which newly produced proteins are modified so they can carry out their functions. Mutations in the TRIP11 gene prevent the production of functional GMAP-210, which alters the structure and function of the Golgi apparatus. Researchers suspect that cells called chondrocytes in the developing skeleton may be most sensitive to these changes. Chondrocytes give rise to cartilage, a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Malfunction of the Golgi apparatus in chondrocytes likely underlies the problems with bone formation in achondrogenesis type 1A. Achondrogenesis type 1B is the most severe of a spectrum of skeletal disorders caused by mutations in the SLC26A2 gene. This gene provides instructions for making a protein that is essential for the normal development of cartilage and for its conversion to bone. Mutations in the SLC26A2 gene cause the skeletal problems characteristic of achondrogenesis type 1B by disrupting the structure of developing cartilage, which prevents bones from forming properly. Achondrogenesis type 2 is one of several skeletal disorders that result from mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in cartilage and in the clear gel that fills the eyeball (the vitreous). It is essential for the normal development of bones and other connective tissues that form the body's supportive framework. Mutations in the COL2A1 gene interfere with the assembly of type II collagen molecules, which prevents bones and other connective tissues from developing properly." +31431,Do you have information about Intrauterine, +42330,What to do in case of emergency or overdose of Oxacillin Sodium Injection ?, +18593,What are the complications of Pediatric sleep apnea ?, +15767,What causes Heart failure - overview ?, +7191,What are the symptoms of Proud syndrome ?,"What are the signs and symptoms of Proud syndrome? The most common signs and symptoms of Proud syndrome are: Agenesis of the corpus callosum Severe intellectual disability Seizures Stiff and/or rigid muscles (spasticity) Other features may include microcephaly (unusually small head), limb contractures, scoliosis, characteristic facial features, kidney malformations, and genital abnormalities (i.e. cryptorchidism, hypospadias). Proud syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. The Human Phenotype Ontology provides the following list of signs and symptoms for Proud syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Microcephaly 90% Seizures 90% Short stature 90% Abnormality of the hip bone 50% Abnormality of the pinna 50% Coarse facial features 50% Hypertrichosis 50% Nystagmus 50% Scoliosis 50% Strabismus 50% Cerebral cortical atrophy 7.5% Displacement of the external urethral meatus 7.5% Hemiplegia/hemiparesis 7.5% Hernia of the abdominal wall 7.5% Renal hypoplasia/aplasia 7.5% Broad alveolar ridges - Cryptorchidism - High palate - Hirsutism - Hyperconvex nail - Hypospadias - Intellectual disability, progressive - Intellectual disability, severe - Large eyes - Limb joint contracture - Low anterior hairline - Neonatal hypotonia - Optic atrophy - Overlapping toe - Prominent supraorbital ridges - Protruding ear - Renal dysplasia - Spastic tetraplegia - Synophrys - Tapered finger - Tetraplegia - Visual impairment - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common." +27846,What are the treatments for Osler-Weber-Rendu syndrome ?, +8965,"Is 48,XXYY syndrome inherited ?","Can 48,XXYY syndrome be inherited?" +6385,What is (are) Glutaric acidemia type III ?,"Glutaric acidemia type III is a rare metabolic condition characterized by persistent, isolated accumulation or excretion of glutaric acid. No specific phenotype has been described, as symptoms vary and some individuals remain symptom-free. Unlike other types of glutaric acidemia, this type is caused by a peroxisomal rather than a mitochondrial dysfunction. Mutations in the C7ORF10 gene on chromosome 7p14 have been identified in some people with glutaric acidemia type III and the condition follows an autosomal recessive pattern of inheritance. Treatment with riboflavin has been helpful in some patients." +10749,What is (are) Sialidosis type I ?,"Sialidosis is a severe inherited disorder that affects many organs and tissues, including the nervous system. This disorder is divided into two types, which are distinguished by the age at which symptoms appear and the severity of features. Sialidosis type I is the less severe form of this condition. People with this condition typically develop signs and symptoms of sialidosis in their teens or twenties. Characteristic features may include sudden involuntary muscle contractions (myoclonus), distinctive red spots (cherry-red macules) in the eyes, and sometimes additional neurological findings. Sialidosis type I is caused by mutations in the NEU1 gene. Individuals with sialidosis type I have mutations that result in some functional NEU1 enzyme. The condition is inherited in an autosomal recessive pattern. It does not affect intelligence or life expectancy." +12546,What is the action of Belladonna and how does it work ?, +40425,How should Promethazine be used and what is the dosage ?, +6813,What causes Cowden syndrome ?,"What causes Cowden syndrome? Most cases of Cowden syndrome are caused by changes (mutations) in the PTEN gene. PTEN is a tumor suppressor gene which means that it encodes a protein that helps keep cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in PTEN result in a defective protein that is unable to carry out its normal role. This leads to the development of the various tumors and cancers associated with Cowden syndrome. Rarely, Cowden syndrome is caused by mutations in KLLN, SDHB, SDHC, SDHD, PIK3CA or AKT1. Some affected families have no identifiable mutation in any of the genes associated with Cowden syndrome; in these families, the exact underlying cause is unknown." +38706,What to do in case of emergency or overdose of Benazepril and Hydrochlorothiazide ?, +27649,What is the outlook for Tricuspid atresia ?, +10252,What is (are) Hemophilia ?,"Hemophilia is a bleeding disorder that slows the blood clotting process. People with this disorder experience prolonged bleeding following an injury, surgery, or having a tooth pulled. In severe cases, heavy bleeding occurs after minor trauma or in the absence of injury. Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. The major types of this disorder are hemophilia A and hemophilia B. Although the two types have very similar signs and symptoms, they are caused by mutations in different genes. People with an unusual form of hemophilia B, known as hemophilia B Leyden, experience episodes of excessive bleeding in childhood, but have few bleeding problems after puberty. Another form of the disorder, acquired hemophilia, is not caused by inherited gene mutations." +1347,What are the genetic changes related to myoclonus-dystonia ?,"Mutations in the SGCE gene cause myoclonus-dystonia. The SGCE gene provides instructions for making a protein called epsilon ()-sarcoglycan, whose function is unknown. The -sarcoglycan protein is located within the cell membranes of many tissues, but it is most abundant in nerve cells (neurons) in the brain and in muscle cells. SGCE gene mutations that cause myoclonus-dystonia result in a shortage of -sarcoglycan protein. The protein shortage seems to affect the regions of the brain involved in coordinating movements (the cerebellum) and controlling movements (the basal ganglia). Thus, the movement problems experienced by people with myoclonus-dystonia are caused by dysfunction in the brain, not the muscles. People with this condition show no signs of muscle disease. It is unknown why SGCE gene mutations seem only to affect the brain." +11365,what research (or clinical trials) is being done for Essential Tremor ?,"The National Institute of Neurological Disorders and Stroke, a unit of the National Institutes of Health (NIH) within the U.S. Department of Health and Human Services, is the nation's leading federal funder of research on disorders of the brain and nervous system. The NINDS sponsors research on tremor both at its facilities at the NIH and through grants to medical centers. + +Scientists at the NINDS are evaluating the effectiveness of 1-octanol, a substance similar to alcohol but less intoxicating, for treating essential tremor. Results of two previous NIH studies have shown this agent to be promising as a potential new treatment. + +Scientists are also studying the effectiveness of botulinum toxin as a treatment for a variety of involuntary movement disorders, including essential tremor of the hand." +25213,What are the symptoms of Carbolic acid poisoning ?, +45222,What special dietary instructions should I follow with Triamterene ?, +45085,Are there safety concerns or special precautions about Piperacillin and Tazobactam Injection ?, +31605,What is the outlook for Allergic conjunctivitis ?, +2020,"What is (are) mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes ?","Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a condition that affects many of the body's systems, particularly the brain and nervous system (encephalo-) and muscles (myopathy). The signs and symptoms of this disorder most often appear in childhood following a period of normal development, although they can begin at any age. Early symptoms may include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizures. Most affected individuals experience stroke-like episodes beginning before age 40. These episodes often involve temporary muscle weakness on one side of the body (hemiparesis), altered consciousness, vision abnormalities, seizures, and severe headaches resembling migraines. Repeated stroke-like episodes can progressively damage the brain, leading to vision loss, problems with movement, and a loss of intellectual function (dementia). Most people with MELAS have a buildup of lactic acid in their bodies, a condition called lactic acidosis. Increased acidity in the blood can lead to vomiting, abdominal pain, extreme tiredness (fatigue), muscle weakness, and difficulty breathing. Less commonly, people with MELAS may experience involuntary muscle spasms (myoclonus), impaired muscle coordination (ataxia), hearing loss, heart and kidney problems, diabetes, and hormonal imbalances." +26813,Do you have information about MRSA, +37599,How should Acamprosate be used and what is the dosage ?, +18278,What are the symptoms of Factor II deficiency ?, +35777,What special dietary instructions should I follow with Dexrazoxane Injection ?, +14567,What is (are) Trigeminal Neuralgia ?,"Trigeminal neuralgia (TN) is a type of chronic pain that affects your face. It causes extreme, sudden burning or shock-like pain. It usually affects one side of the face. Any vibration on your face, even from talking, can set it off. The condition may come and go, disappearing for days or even months. But the longer you have it, the less often it goes away. TN usually affects people over 50, especially women. The cause is probably a blood vessel pressing on the trigeminal nerve, one of the largest nerves in the head. Tumors and multiple sclerosis can also cause TN, but in some cases the cause is unknown. There is no single test to diagnose TN. It can be hard to diagnose, since many other conditions can cause facial pain. Treatment options include medicines, surgery, and complementary techniques. NIH: National Institute of Neurological Disorders and Stroke" +46958,Who should get Dexlansoprazole and why is it prescribed ?, +33403,How to diagnose Henoch-Schnlein Purpura ?,"A diagnosis of HSP is suspected when a person has the characteristic rash and one of the following: + +- abdominal pain - joint pain - antibody deposits on the skin - hematuria or proteinuria + +Antibody deposits on the skin can confirm the diagnosis of HSP. These deposits can be detected using a skin biopsy, a procedure that involves taking a piece of skin tissue for examination with a microscope. A skin biopsy is performed by a health care provider in a hospital with little or no sedation and local anesthetic. The skin tissue is examined in a lab by a pathologista doctor who specializes in diagnosing diseases. + +A kidney biopsy may also be needed. A kidney biopsy is performed by a health care provider in a hospital with light sedation and local anesthetic. The health care provider uses imaging techniques such as ultrasound or a computerized tomography scan to guide the biopsy needle into the organ. The kidney tissue is examined in a lab by a pathologist. The test can confirm diagnosis and be used to determine the extent of kidney involvement, which will help guide treatment decisions. + +Hematuria and proteinuria are detected using urinalysis, which is testing of a urine sample. The urine sample is collected in a special container in a health care providers office or commercial facility and can be tested in the same location or sent to a lab for analysis. For the test, a nurse or technician places a strip of chemically treated paper, called a dipstick, into the urine sample. Patches on the dipstick change color when blood or protein are present in urine." +25917,How to prevent Renal cell carcinoma ?, +34045,What to do for Zollinger-Ellison Syndrome ?,"Researchers have not found that eating, diet, and nutrition play a role in causing or preventing Zollinger-Ellison syndrome." +23673,"What is (are) MMRV (measles, mumps, rubella,and varicella) vaccine - what you need to know ?", +45860,Who should get Meningococcal Vaccines and why is it prescribed ?, +33327,What are the symptoms of Rocky Mountain Spotted Fever (RMSF) ?,"The first symptoms of Rocky Mountain spotted fever (RMSF) typically begin 2-14 days after the bite of an infected tick. A tick bite is usually painless and about half of the people who develop RMSF do not remember being bitten. The disease frequently begins as a sudden onset of fever and headache and most people visit a healthcare provider during the first few days of symptoms. Because early symptoms may be non-specific, several visits may occur before the diagnosis of RMSF is made and correct treatment begins. The following is a list of symptoms commonly seen with this disease, however, it is important to note that few people with the disease will develop all symptoms, and the number and combination of symptoms varies greatly from person to person. + + - Fever + - Rash (occurs 2-5 days after fever, may be absent in some cases; see below) + - Headache + - Nausea + - Vomiting + - Abdominal pain (may mimic appendicitis or other causes of acute abdominal pain) + - Muscle pain + - Lack of appetite + - Conjunctival injection (red eyes) + + +RMSF is a serious illness that can be fatal in the first eight days of symptoms if not treated correctly, even in previously healthy people. The progression of the disease varies greatly. Patients who are treated early may recover quickly on outpatient medication, while those who experience a more severe course may require intravenous antibiotics, prolonged hospitalization or intensive care. + + +Rash + +While most people with RMSF (90%) have some type of rash during the course of illness, some people do not develop the rash until late in the disease process, after treatment should have already begun. Approximately 10% of RMSF patients never develop a rash. It is important for physicians to consider RMSF if other signs and symptoms support a diagnosis, even if a rash is not present. + +A classic case of RMSF involves a rash that first appears 2-5 days after the onset of fever as small, flat, pink, non-itchy spots (macules) on the wrists, forearms, and ankles and spreads to include the trunk and sometimes the palms and soles. Often the rash varies from this description and people who fail to develop a rash, or develop an atypical rash, are at increased risk of being misdiagnosed. + +The red to purple, spotted (petechial) rash of RMSF is usually not seen until the sixth day or later after onset of symptoms and occurs in 35-60% of patients with the infection. This is a sign of progression to severe disease, and every attempt should be made to begin treatment before petechiae develop. + +Figure 1a and 1b: Examples of an early-stage rash in an RMSF patient. + + + + + + + + + + + + + + + + + + + + + + + +Long-term Health Problems + +Patients who had a particularly severe infection requiring prolonged hospitalization may have long-term health problems caused by this disease. Rickettsia rickettsii infects the endothelial cells that line the blood vessels. The damage that occurs in the blood vessels results in a disease process called a ""vasculitis"", and bleeding or clotting in the brain or other vital organs may occur. Loss of fluid from damaged vessels can result in loss of circulation to the extremities and damaged fingers, toes or even limbs may ultimately need to be amputated. Patients who suffer this kind of severe vasculitis in the first two weeks of illness may also be left with permanent long-term health problems such as profound neurological deficits, or damage to internal organs. Those who do not have this kind of vascular damage in the initial stages of the disease typically recover fully within several days to months. + + +Infection in Children + +Children with RMSF infection may experience nausea, vomiting, and loss of appetite. Children are less likely to report a headache, but more likely to develop an early rash than adults. Other frequently observed signs and symptoms in children with RMSF are abdominal pain, altered mental status, and conjunctival injection. Occasionally, symptoms like cough, sore throat, and diarrhea may be seen, and can lead to misdiagnosis. + +For more in-depth information about signs and symptoms of RMSF, please visit http://www.cdc.gov/mmwr/preview/mmwrhtml/rr5504a1.htm + + +Physician Diagnosis + +There are several aspects of RMSF that make it challenging for healthcare providers to diagnose and treat. The symptoms of RMSF vary from patient to patient and can easily resemble other, more common diseases. Treatment for this disease is most effective at preventing death if started in the first five days of symptoms. Diagnostic tests for this disease, especially tests based on the detection of antibodies, will frequently appear negative in the first 7-10 days of illness. Due to the complexities of this disease and the limitations of currently available diagnostic tests, there is no test available at this time that can provide a conclusive result in time to make important decisions about treatment. + +For this reason, healthcare providers must use their judgment to treat patients based on clinical suspicion alone. Healthcare providers may find important information in the patient’s history and physical examination that may aid clinical suspicion. Information such as recent tick bites, exposure to high grass and tick-infested areas, contact with dogs, similar illnesses in family members or pets, or history of recent travel to areas of high incidence can be helpful in making the diagnosis. Also, information about the presence of symptoms such as fever and rash may be helpful. The healthcare provider may also look at routine blood tests, such as a complete blood cell count or a chemistry panel. Clues such as a low platelet count (thrombocytopenia), low sodium levels (hyponatremia), or elevated liver enzyme levels are often helpful predictors of RMSF but may not be present in all patients. After a suspect diagnosis is made on clinical suspicion and treatment has begun, specialized laboratory testing should be used to confirm the diagnosis of RMSF. + + + + + + + +Laboratory Confirmation + +R. rickettsii infects the endothelial cells that line blood vessels, and does not circulate in large numbers in the blood unless the patient has progressed to a very severe phase of infection. For this reason, blood specimens (whole blood, serum) are not always useful for detection of the organism through polymerase chain reaction (PCR) or culture. If the patient has a rash, PCR or immunohistochemical (IHC) staining can be performed on a skin biopsy taken from the rash site. This test can often deliver a rapid result. These tests have good sensitivity (70%) when applied to tissue specimens collected during the acute phase of illness and before antibiotic treatment has been started, but a negative result should not be used to guide treatment decisions. PCR, culture, and IHC can also be applied to autopsy specimens (liver, spleen, kidney, etc) collected after a patient dies. Culture of R. rickettsii is only available at specialized laboratories; routine hospital blood cultures cannot detect R. rickettsii. + +During RMSF infection, a patient’s immune system develops antibodies to R. rickettsii, with detectable antibody titers usually observed by 7-10 days after illness onset. It is important to note that antibodies are not detectable in the first week of illness in 85% of patients, and a negative test during this time does not rule out RMSF as a cause of illness. + +The gold standard serologic test for diagnosis of RMSF is the indirect immunofluorescence assay (IFA) with R. rickettsii antigen, performed on two paired serum samples to demonstrate a significant (four-fold) rise in antibody titers. The first sample should be taken as early in the disease as possible, preferably in the first week of symptoms, and the second sample should be taken 2 to 4 weeks later. In most RMSF cases, the first IgG IFA titer is typically low or negative, and the second typically shows a significant (fourfold) increase in IgG antibody levels. IgM antibodies usually rise at the same time as IgG near the end of the first week of illness and remain elevated for months or even years. Also, IgM antibodies are less specific than IgG antibodies and more likely to result in a false positive. For these reasons, physicians requesting IgM serologic titers should also request a concurrent IgG titer. + +Both IgM and IgG levels may remain elevated for months or longer after the disease has resolved, or may be detected in persons who were previously exposed to antigenically related organisms. Up to 10% of currently healthy people in some areas may have elevated antibody titers due to past exposure to R. rickettsii or similar organisms. Therefore, if only one sample is tested it can be difficult to interpret, whereas two paired samples taken weeks apart demonstrating a significant (four-fold) rise in antibody titer provide the best evidence for a correct diagnosis of RMSF. For more in-depth information about testing, please visit http://www.cdc.gov/mmwr/preview/mmwrhtml/rr5504a1.htm + + +Treatment + +Doxycycline is the first line treatment for adults and children of all ages and should be initiated immediately whenever RMSF is suspected. + +Use of antibiotics other than doxycycline is associated with a higher risk of fatal outcome. Treatment is most effective at preventing death if doxycycline is started in the first 5 days of symptoms. Therefore, treatment must be based on clinical suspicion alone and should always begin before laboratory results return or symptoms of severe disease, such as petechiae, develop. + +If the patient is treated within the first 5 days of the disease, fever generally subsides within 24-72 hours. In fact, failure to respond to doxycycline suggests that the patient’s condition might not be RMSF. Severely ill patients may require longer periods before their fever resolves, especially if they have experienced damage to multiple organ systems. Resistance to doxcycline or relapses in symptoms after the completion of the recommended course of treatment have not been documented. + +Recommended Dosage +Doxycycline is the first line treatment for adults and children of all ages: + + - Adults: 100 mg every 12 hours + - Children under 45 kg (100 lbs): 2.2 mg/kg body weight given twice a day + + +Patients should be treated for at least 3 days after the fever subsides and until there is evidence of clinical improvement. Standard duration of treatment is 7-14 days. +Treating Children + +The use of doxycycline to treat suspected RMSF in children is standard practice recommended by both CDC and the AAP Committee on Infectious Diseases. Use of antibiotics other than doxycycline increases the risk of patient death. Unlike older tetracyclines, the recommended dose and duration of medication needed to treat RMSF has not been shown to cause staining of permanent teeth, even when five courses are given before the age of eight. Healthcare providers should use doxycycline as the first-line treatment for suspected Rocky Mountain spotted fever in patients of all ages. +Other Treatments + +In cases of life threatening allergies to doxycycline and in some pregnant patients for whom the clinical course of RMSF appears mild, chloramphenicol may be considered as an alternative antibiotic. Oral forumulations of chloramphenicol are not available in the United States, and use of this drug carries the potential for other adverse risks, such as aplastic anemia and Grey baby syndrome. Furthermore, the risk for fatal outcome is elevated in patients who are treated with chloramphenicol compared to those treated with doxycycline. Other antibiotics, including broad spectrum antibiotics are not effective against R. rickettsii, and the use of sulfa drugs may worsen infection. +Prophylaxis (Preventive Treatment) + +Antibiotic treatment following a tick bite is not recommended as a means to prevent RMSF. There is no evidence this practice is effective, and may simply delay onset of disease. Instead, persons who experience a tick bite should be alert for symptoms suggestive of tickborne illness and consult a physician if fever, rash, or other symptoms of concern develop. + +For more in-depth information about treatment, please visit http://www.cdc.gov/mmwr/preview/mmwrhtml/rr5504a1.htm + + +Other Considerations + +The clinical presentation for RMSF can also resemble other tickborne diseases, such as ehrlichiosis and anaplasmosis. Similar to RMSF, these infections respond well to treatment with doxycycline. Healthcare providers should order diagnostic tests for additional agents if the clinical history and geographic association warrant. For more in-depth about other similar tickborne diseases, please visit http://www.cdc.gov/mmwr/preview/mmwrhtml/rr5504a1.htm" +22339,What is the outlook for Obstructive uropathy ?, +38593,What should I do if I forget a dose of Amantadine ?, +6411,What causes Craniopharyngioma ?,What causes craniopharyngioma? Craniopharyngiomas are thought to arise from epithelial remnants of the craniopharyngeal duct or Rathke's pouch (adamantinomatous type tumours) or from metaplasia of squamous epithelial cell rests that are remnants of the part of the stomadeum that contributed to the buccal mucosa (squamous papillary type tumours). +32630,Do you have information about The day of surgery for your child, +27687,What is (are) SVC obstruction ?, +34444,How to diagnose IgA Nephropathy ?,"A health care provider diagnoses kidney disease with + +- a medical and family history - a physical exam - urine tests - a blood test + +Medical and Family History + +Taking a medical and family history may help a health care provider diagnose kidney disease. + +Physical Exam + +A physical exam may help diagnose kidney disease. During a physical exam, a health care provider usually + +- measures the patients blood pressure - examines the patients body for swelling + +Urine Tests + +Dipstick test for albumin and blood. A dipstick test performed on a urine sample can detect the presence of albumin and blood. The patient provides a urine sample in a special container in a health care providers office or a commercial facility. A nurse or technician can test the sample in the same location, or he or she can send it to a lab for analysis. The test involves placing a strip of chemically treated paper, called a dipstick, into the patients urine sample. Patches on the dipstick change color when albumin or blood is present in urine. + +Urine albumin-to-creatinine ratio. A health care provider uses this measurement, which compares the amount of albumin with the amount of creatinine in a urine sample, to estimate 24-hour albumin excretion. A patient may have chronic kidney disease if the urine albumin-to-creatinine ratio is greater than 30 milligrams (mg) of albumin for each gram (g) of creatinine (30 mg/g). This measurement is also called UACR. + +Blood Test + +A blood test involves having blood drawn at a health care providers office or a commercial facility and sending the sample to a lab for analysis. A health care provider may order a blood test to estimate how much blood a patients kidneys filter each minutea measurement called the estimated glomerular filtration rate (eGFR). Depending on the results, the test can indicate the following: + +- eGFR of 60 or above is in the normal range - eGFR below 60 may indicate kidney disease - eGFR of 15 or below may indicate kidney failure" +46088,What other information should I know about Dorzolamide and Timolol Ophthalmic ?, +33155,What are the treatments for Parasites - Toxocariasis (also known as Roundworm Infection) ?,"Visceral toxocariasis can be treated with antiparasitic drugs such as albendazole or mebendazole. Treatment of ocular toxocariasis is more difficult and usually consists of measures to prevent progressive damage to the eye. + +More on: Resources For Health Professionals: Treatment" +34398,What to do for Prostate Enlargement: Benign Prostatic Hyperplasia ?,"Researchers have not found that eating, diet, and nutrition play a role in causing or preventing benign prostatic hyperplasia. However, a health care provider can give information about how changes in eating, diet, or nutrition could help with treatment. Men should talk with a health care provider or dietitian about what diet is right for them." +46214,What are the brand names of combination products of Dextroamphetamine and Amphetamine ?, +45278,Are there safety concerns or special precautions about Digoxin Oral ?, +33057,What are the complications of Thoracic aortic aneurysm ?, +2419,What are the treatments for Weissenbacher-Zweymller syndrome ?,These resources address the diagnosis or management of Weissenbacher-Zweymller syndrome: - Genetic Testing Registry: Weissenbacher-Zweymuller syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care +9947,How to diagnose Landau-Kleffner syndrome ?,"How is Landau-Kleffner syndrome (LKS) diagnosed? LKS is diagnosed based on clinical features and the results of an electroencephalogram (EEG), a recording of the electric activity of the brain. All LKS children have abnormal electrical brain activity on both the right and left sides of their brains." +34815,What are the side effects or risks of Indacaterol Oral Inhalation ?, +43572,Are there safety concerns or special precautions about Estrogen and Bazedoxifene ?, +31892,Do I need to see a doctor for Heat intolerance ?, +20104,What causes Strep throat ?, +7705,What is (are) C1q deficiency ?,"C1q deficiency is a rare disorder associated with recurrent skin lesions, chronic infections, systemic lupus erythematosus (SLE) or SLE-like diseases. It has also been associated with a kidney disease known as mesangial proliferative glomerulonephritis. C1q is a protein and together with other proteins, C1r and C1s, it forms the C1 complex. This complex is important for the activation of the complement system (a group of proteins that work with the immune system). It also disposes cells that are dead. C1q deficiency presents in 2 different forms, absent C1q protein or abnormal C1q protein. Symptoms include infections (ear infections (otitis media), meningitis, urinary tract infections, oral infections); skin lesions (small blisters (vesicles), dark patches, and atrophic areas) that get worse upon light exposure; cataracts; loss of eyelashes, eyebrows, and scalp hair; blood in urine; and glomerulonephritis. About 93% of cases are associated with systemic lupus erythematosus. It can be caused by mutations in the C1QA, C1QB or C1QC genes and is inherited in an autosomal recessive pattern. Treatment depends on the symptoms. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation, a procedure in which a person receives blood-forming stem cells (cells from which all blood cells develop) from a genetically similar, but not identical donor." +35172,Are there safety concerns or special precautions about Acitretin ?, +9914,What are the symptoms of Cataract anterior polar dominant ?,"What are the signs and symptoms of Cataract anterior polar dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract anterior polar dominant. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Anterior polar cataract - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common." +39709,What other information should I know about Cytarabine ?, +25027,What causes Ascariasis ?, +32295,What are the symptoms of Choking - unconscious adult or child over 1 year ?, +39616,What should I do if I forget a dose of Progesterone ?, +34555,What special dietary instructions should I follow with Glycopyrrolate ?, +20362,What is the outlook for Retinal vein occlusion ?, +11917,Are there interactions between Coconut Water and herbs and supplements ?, +43157,How should Tedizolid Injection be used and what is the dosage ?, +25923,How to diagnose Hunter syndrome ?, +13870,How to diagnose Thrombocytopenia ?,"Your doctor will diagnose thrombocytopenia based on your medical history, a physical exam, and test results. A hematologist also may be involved in your care. This is a doctor who specializes in diagnosing and treating blood diseases and conditions. + +Once thrombocytopenia is diagnosed, your doctor will begin looking for its cause. + +Medical History + +Your doctor may ask about factors that can affect your platelets, such as: + +The medicines you take, including over-the-counter medicines and herbal remedies, and whether you drink beverages that contain quinine. Quinine is a substance often found in tonic water and nutritional health products. + +Your general eating habits, including the amount of alcohol you normally drink. + +Your risk for AIDS, including questions about blood transfusions, sexual partners, intravenous (IV) drugs, and exposure to infectious blood or bodily fluids at work. + +Any family history of low platelet counts. + +Physical Exam + +Your doctor will do a physical exam to look for signs and symptoms of bleeding, such as bruises or spots on the skin. He or she will check your abdomen for signs of an enlarged spleen or liver. You also will be checked for signs of infection, such as a fever. + +Diagnostic Tests + +Your doctor may recommend one or more of the following tests to help diagnose a low platelet count. For more information about blood tests, go to the Health Topics Blood Tests article. + +Complete Blood Count + +A complete blood count (CBC) measures the levels of red blood cells, white blood cells, and platelets in your blood. For this test, a small amount of blood is drawn from a blood vessel, usually in your arm. + +If you have thrombocytopenia, the results of this test will show that your platelet count is low. + +Blood Smear + +A blood smear is used to check the appearance of your platelets under a microscope. For this test, a small amount of blood is drawn from a blood vessel, usually in your arm. + +Bone Marrow Tests + +Bone marrow tests check whether your bone marrow is healthy. Blood cells, including platelets, are made in your bone marrow. The two bone marrow tests are aspiration (as-pih-RA-shun) and biopsy. + +Bone marrow aspiration might be done to find out why your bone marrow isn't making enough blood cells. For this test, your doctor removes a sample of fluid bone marrow through a needle. He or she examines the sample under a microscope to check for faulty cells. + +A bone marrow biopsy often is done right after an aspiration. For this test, your doctor removes a sample of bone marrow tissue through a needle. He or she examines the tissue to check the number and types of cells in the bone marrow. + +Other Tests + +If a bleeding problem is suspected, you may need other blood tests as well. For example, your doctor may recommend PT and PTT tests to see whether your blood is clotting properly. + +Your doctor also may suggest an ultrasound to check your spleen. An ultrasound uses sound waves to create pictures of your spleen. This will allow your doctor to see whether your spleen is enlarged." +36945,Are there safety concerns or special precautions about Sodium Phosphate Rectal ?, +45304,What other information should I know about Desmopressin Oral ?, +44359,Are there safety concerns or special precautions about Bleomycin ?, +37789,What special dietary instructions should I follow with Fluconazole Injection ?, +43192,What to do in case of emergency or overdose of Tamoxifen ?, +27561,What is (are) MRI and low back pain ?, +1263,Is sporadic hemiplegic migraine inherited ?,"Sporadic means that the condition occurs in individuals with no history of the disorder in their family. While most cases result from new (de novo) mutations that likely occur during early embryonic development, some affected individuals inherit the genetic change that causes the condition from an unaffected parent. (When some people with the mutation have no signs and symptoms of the disorder, the condition is said to have reduced penetrance.) Although family members of an affected individual do not have sporadic hemiplegic migraine, some experience migraine headaches without hemiparesis. A related condition, familial hemiplegic migraine, has signs and symptoms identical to those in sporadic hemiplegic migraine but occurs in multiple members of a family." +42186,What should I know about storage and disposal of Thyroid ?, +27759,What is (are) Traveling with breathing problems ?, +43344,What special dietary instructions should I follow with Aripiprazole Injection ?, +12985,How to diagnose Childhood Astrocytomas ?,"Tests that examine the brain and spinal cord are used to detect (find) childhood astrocytomas. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health. This includes checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Neurological exam : A series of questions and tests to check the brain, spinal cord, and nerve function. The exam checks a persons mental status, coordination, and ability to walk normally, and how well the muscles, senses, and reflexes work. This may also be called a neuro exam or a neurologic exam. - Visual field exam: An exam to check a persons field of vision (the total area in which objects can be seen). This test measures both central vision (how much a person can see when looking straight ahead) and peripheral vision (how much a person can see in all other directions while staring straight ahead). The eyes are tested one at a time. The eye not being tested is covered. - MRI (magnetic resonance imaging) with gadolinium : A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of the brain and spinal cord. A substance called gadolinium is injected into a vein. The gadolinium collects around the cancer cells so they show up brighter in the picture. This procedure is also called nuclear magnetic resonance imaging (NMRI). Sometimes magnetic resonance spectroscopy (MRS) is done during the same MRI scan to look at the chemical makeup of the brain tissue. + Childhood astrocytomas are usually diagnosed and removed in surgery. If doctors think there may be an astrocytoma, a biopsy may be done to remove a sample of tissue. For tumors in the brain, a part of the skull is removed and a needle is used to remove tissue. Sometimes, the needle is guided by a computer. A pathologist views the tissue under a microscope to look for cancer cells. If cancer cells are found, the doctor may remove as much tumor as safely possible during the same surgery. Because it can be hard to tell the difference between types of brain tumors, you may want to have your child's tissue sample checked by a pathologist who has experience in diagnosing brain tumors. The following test may be done on the tissue that was removed: - Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test may be used to tell the difference between different types of cancer. An MIB-1 test is a type of immunohistochemistry that checks tumor tissue for an antigen called MIB-1. This may show how fast a tumor is growing. Sometimes tumors form in a place that makes them hard to remove. If removing the tumor may cause severe physical, emotional, or learning problems, a biopsy is done and more treatment is given after the biopsy. Children who have NF1 may form a low-grade astrocytoma in the area of the brain that controls vision and may not need a biopsy. If the tumor does not continue to grow or symptoms do not occur, surgery to remove the tumor may not be needed." +29277,How to prevent Melanoma of the eye ?, +13240,What are the treatments for Chronic Eosinophilic Leukemia ?,"Treatment of chronic eosinophilic leukemia may include the following: - Bone marrow transplant. - Biologic therapy using interferon alfa. - A clinical trial of a new treatment. Check the list of NCI-supported cancer clinical trials that are now accepting patients with chronic eosinophilic leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website." +32869,What is (are) Protein-losing enteropathy ?, +789,What are the treatments for fatty acid hydroxylase-associated neurodegeneration ?,These resources address the diagnosis or management of fatty acid hydroxylase-associated neurodegeneration: - Gene Review: Gene Review: Fatty Acid Hydroxylase-Associated Neurodegeneration - Genetic Testing Registry: Spastic paraplegia 35 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care +42417,What should I know about storage and disposal of Clorazepate ?, +30107,What is (are) Euglobulin lysis time ?, +36138,What special dietary instructions should I follow with Histrelin Implant ?, +35695,How should Droxidopa be used and what is the dosage ?, +25689,What is the outlook for Oral cancer ?, +7096,What is (are) Choroideremia ?,"Choroideremia is a genetic condition that causes vision loss. This disorder typically affects males. The first symptom is usually impairment of night vision (night blindness), which can occur in childhood. People with this disorder also experience narrowing of the field of vision (tunnel vision) and decrease in the ability to see details (visual acuity). The vision problems are due to loss of cells in the retina (light sensitive part of the eye) and choroid (blood vessels in the eye). The vision issues tend to get worse over time and usually lead to blindness in late adulthood. The rate and degree of vision loss differs for each person. Choroideremia is caused by spelling mistakes (mutations) in the CHM gene and is inherited in an X-linked recessive pattern." +40973,Are there safety concerns or special precautions about Nicotine Nasal Spray ?, +25248,What are the symptoms of Cleft lip and palate ?, +22002,What is (are) Ectodermal dysplasia ?, +664,What are the treatments for Klippel-Trenaunay syndrome ?,These resources address the diagnosis or management of Klippel-Trenaunay syndrome: - Cincinnati Children's Hospital Medical Center - Cleveland Clinic - Genetic Testing Registry: Klippel Trenaunay syndrome - Seattle Children's Hospital These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care +26491,What causes Endometrial cancer ?, +28718,What are the symptoms of Apert syndrome ?, +17424,Do I need to see a doctor for Avoidant personality disorder ?, +28404,What causes Agranulocytosis ?, +1561,How many people are affected by autoimmune lymphoproliferative syndrome ?,ALPS is a rare disorder; its prevalence is unknown. More than 200 affected individuals have been identified worldwide. +3550,What is (are) neuroblastoma ?,"Neuroblastoma is a type of cancer that most often affects children. Neuroblastoma occurs when immature nerve cells called neuroblasts become abnormal and multiply uncontrollably to form a tumor. Most commonly, the tumor originates in the nerve tissue of the adrenal gland located above each kidney. Other common sites for tumors to form include the nerve tissue in the abdomen, chest, neck, or pelvis. Neuroblastoma can spread (metastasize) to other parts of the body such as the bones, liver, or skin. Individuals with neuroblastoma may develop general signs and symptoms such as irritability, fever, tiredness (fatigue), pain, loss of appetite, weight loss, or diarrhea. More specific signs and symptoms depend on the location of the tumor and where it has spread. A tumor in the abdomen can cause abdominal swelling. A tumor in the chest may lead to difficulty breathing. A tumor in the neck can cause nerve damage known as Horner syndrome, which leads to drooping eyelids, small pupils, decreased sweating, and red skin. Tumor metastasis to the bone can cause bone pain, bruises, pale skin, or dark circles around the eyes. Tumors in the backbone can press on the spinal cord and cause weakness, numbness, or paralysis in the arms or legs. A rash of bluish or purplish bumps that look like blueberries indicates that the neuroblastoma has spread to the skin. In addition, neuroblastoma tumors can release hormones that may cause other signs and symptoms such as high blood pressure, rapid heartbeat, flushing of the skin, and sweating. In rare instances, individuals with neuroblastoma may develop opsoclonus myoclonus syndrome, which causes rapid eye movements and jerky muscle motions. This condition occurs when the immune system malfunctions and attacks nerve tissue. Neuroblastoma occurs most often in children before age 5 and rarely occurs in adults." +22229,Do I need to see a doctor for Bone pain or tenderness ?, +2343,Is mitochondrial complex III deficiency inherited ?,"Mitochondrial complex III deficiency is usually inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. In some cases caused by mutations in the MT-CYB gene, the condition is not inherited; it is caused by new mutations in the gene that occur in people with no history of the condition in their family. Other cases caused by mutations in the MT-CYB gene are inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with changes in mtDNA to their children." +38561,What should I know about storage and disposal of Clarithromycin ?, +13990,What are the treatments for Broken Heart Syndrome ?,"Even though broken heart syndrome may feel like a heart attack, its a very different problem that needs a different type of treatment. + +The good news is that broken heart syndrome is usually treatable, and most people make a full recovery. Most people who experience broken heart syndrome stay in the hospital for a few days to a week. + +Initial treatment is aimed at improving blood flow to the heart, and may be similar to that for a heart attack until the diagnosis is clear. Further treatment can include medicines and lifestyle changes. + +Medicines + +Doctors may prescribe medicines to relieve fluid buildup, treat blood pressure problems, prevent blood clots, and manage stress hormones. Medicines are often discontinued once heart function has returned to normal. + +Your doctor may prescribe the following medicines: + +ACE inhibitors (or angiotensin-converting enzyme inhibitors), to lower blood pressure and reduce strain on your heart + +Beta blockers, to slow your heart rate and lower your blood pressure to decrease your hearts workload + +Diuretics (water or fluid pills), to help reduce fluid buildup in your lungs and swelling in your feet and ankles + +Anti-anxiety medicines, to help manage stress hormones + +Take all of your medicines as prescribed. If you have side effects or other problems related to your medicines, tell your doctor. He or she may be able to provide other options. + +Treatment of Complications + +Broken heart syndrome can be life threatening in some cases. Because the syndrome involves severe heart muscle weakness, patients can experience shock, heart failure, low blood pressure, and potentially life-threatening heart rhythm abnormalities. + +The good news is that this condition improves very quickly, so with proper diagnosis and management, even the most critically ill tend to make a quick and complete recovery. + +Lifestyle Changes + +To stay healthy, its important to find ways to reduce stress and cope with particularly upsetting situations. Learning how to manage stress, relax, and cope with problems can improve your emotional and physical health. + +Having supportive people in your life with whom you can share your feelings or concerns can help relieve stress. Physical activity, medicine, and relaxation therapy also can help relieve stress. You may want to consider taking part in a stress management program. + +Treatments Not Helpful for Broken Heart Syndrome + +Several procedures used to treat a heart attack are not helpful in treating broken heart syndrome. These procedurespercutaneous coronary intervention (sometimes referred to as angioplasty), stent placement, and surgerytreat blocked arteries, which is not the cause of broken heart syndrome." +13278,What are the stages of Chronic Myelogenous Leukemia ?,"Key Points + - After chronic myelogenous leukemia has been diagnosed, tests are done to find out if the cancer has spread. - Chronic myelogenous leukemia has 3 phases. - Chronic phase - Accelerated phase - Blastic phase + + + After chronic myelogenous leukemia has been diagnosed, tests are done to find out if the cancer has spread. + Staging is the process used to find out how far the cancer has spread. There is no standard staging system for chronic myelogenous leukemia (CML). Instead, the disease is classified by phase: chronic phase, accelerated phase, or blastic phase. It is important to know the phase in order to plan treatment. The information from tests and procedures done to detect (find) and diagnose chronic myelogenous leukemia is also used to plan treatment. + + + Chronic myelogenous leukemia has 3 phases. + As the amount of blast cells increases in the blood and bone marrow, there is less room for healthy white blood cells, red blood cells, and platelets. This may result in infections, anemia, and easy bleeding, as well as bone pain and pain or a feeling of fullness below the ribs on the left side. The number of blast cells in the blood and bone marrow and the severity of signs or symptoms determine the phase of the disease. Chronic phase In chronic phase CML, fewer than 10% of the cells in the blood and bone marrow are blast cells. Accelerated phase In accelerated phase CML, 10% to 19% of the cells in the blood and bone marrow are blast cells. Blastic phase In blastic phase CML, 20% or more of the cells in the blood or bone marrow are blast cells. When tiredness, fever, and an enlarged spleen occur during the blastic phase, it is called blast crisis." +45266,Who should get Rivaroxaban and why is it prescribed ?, +43330,Are there safety concerns or special precautions about Tegaserod ?, +18500,How to diagnose Insulinoma ?, +28970,What are the symptoms of Pseudotumor cerebri ?, +43098,What other information should I know about Ambrisentan ?, +31684,What are the symptoms of Amebic liver abscess ?, +31341,How to diagnose Giardia infection ?, +34963,What should I do if I forget a dose of Dronabinol ?, +16675,What is (are) Nosebleed ?, +9139,What is (are) Cohen syndrome ?,"Cohen syndrome is a congenital (present since birth) condition that was first described in 1973 by Dr. M.M. Cohen, Jr. When the syndrome was first described, it was believed that its main features were obesity, hypotonia (low muscle tone), intellectual disabilities, distinctive facial features with prominent upper central teeth and abnormalities of the hands and feet. Since Cohen syndrome was first described, over 100 cases have been reported worldwide. It is now known that the signs and symptoms present in people with Cohen syndrome may vary considerably. Although the exact cause of Cohen syndrome is unknown, some people with the condition have been found to have mutations in a gene called COH1 (also referred to as VPS13B). When Cohen syndrome is found to be inherited in families, it follows an autosomal recessive pattern. No cure is currently available; however, treatment for Cohen syndrome is focused on improving or alleviating signs and symptoms as they arise." +34625,How should Papaverine be used and what is the dosage ?, +9077,What are the symptoms of Mastocytic enterocolitis ?,"What are the signs and symptoms of mastocytic enterocolitis? According to the medical literature, signs and symptoms of mastocytic enterocolitis primarily include chronic, intractable diarrhea and abdominal pain. Other symptoms that have occasionally been reported include constipation, nausea, and/or vomiting. Although other signs and symptoms appear to have been reported by individuals on various online forums and support Web sites, we were unable to locate additional information about symptoms of the condition in the available medical literature. At this time, literature about mastocytic enterocolitis is scarce." +10456,What is (are) Fibrolamellar carcinoma ?,"Fibrolamellar carcinoma (FLC) is a rare form of liver cancer which is generally diagnosed in adolescents and young adults (before age 40). Many people with early FLC have no signs or symptoms of the condition. When present, symptoms are often nonspecific (i.e. abdominal pain, weight loss, malaise) and blamed on other, more common conditions. The exact underlying cause of FLC is poorly understood. Unlike other forms of liver cancer, FLC typically occurs in the absence of underlying liver inflammation or scarring; thus, specific risk factors for this condition remain unidentified. FLC is typically treated with surgical resection." +20923,What is the outlook for Epilepsy or seizures - discharge ?, +38165,"What are the brand names of Filgrastim, Filgrastim-sndz, Tbo-filgrastim Injection ?", +44619,What special dietary instructions should I follow with Blinatumomab Injection ?, +26076,Do you have information about Mastectomy and breast reconstruction - what to ask your doctor, +41150,What are the side effects or risks of Denileukin Diftitox Injection ?, +41062,What special dietary instructions should I follow with Topotecan Injection ?, +352,What are the genetic changes related to congenital afibrinogenemia ?,"Congenital afibrinogenemia results from mutations in one of three genes, FGA, FGB, or FGG. Each of these genes provides instructions for making one part (subunit) of a protein called fibrinogen. This protein is important for blood clot formation (coagulation), which is needed to stop excessive bleeding after injury. In response to injury, fibrinogen is converted to fibrin, the main protein in blood clots. Fibrin proteins attach to each other, forming a stable network that makes up the blood clot. Congenital afibrinogenemia is caused by a complete absence of fibrinogen protein. Most FGA, FGB, and FGG gene mutations that cause this condition result in a premature stop signal in the instructions for making the respective protein. If any protein is made, it is nonfunctional. When any one subunit is missing, the fibrinogen protein is not assembled, which results in the absence of fibrin. Consequently, blood clots do not form in response to injury, leading to the excessive bleeding seen in people with congenital afibrinogenemia." +42646,What special dietary instructions should I follow with Levofloxacin ?, +5448,What are the symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type C ?,"What are the signs and symptoms of Autosomal dominant intermediate Charcot-Marie-Tooth disease type C? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant intermediate Charcot-Marie-Tooth disease type C. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the foot - Autosomal dominant inheritance - Axonal regeneration - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Upper limb muscle weakness - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common." +11351,What are the treatments for Canavan Disease ?,"Canavan disease causes progressive brain atrophy. There is no cure, nor is there a standard course of treatment. Treatment is symptomatic and supportive." +23452,Who is at risk for Knee microfracture surgery? ?, +39619,What to do in case of emergency or overdose of Progesterone ?, +18992,What are the complications of Listeriosis ?, +15325,How many people are affected by Prostate Cancer ?,"Prostate cancer is one of the most common types of cancer among American men. It is a slow-growing disease that mostly affects older men. In fact, more than 60 percent of all prostate cancers are found in men over the age of 65. The disease rarely occurs in men younger than 40 years of age." +40345,What should I know about storage and disposal of Ezetimibe ?, +43735,How should Ticagrelor be used and what is the dosage ?, +31735,Do you have information about Watercolor paints - swallowing, +38000,Are there safety concerns or special precautions about Ketorolac Injection ?, +45224,What are the side effects or risks of Triamterene ?, +37892,What are the side effects or risks of Liotrix ?, +22314,What are the complications of Perirenal abscess ?, +39954,What are the brand names of Fluvastatin ?, +28789,How to diagnose Bronchitis - acute ?, +40981,How should Levocetirizine be used and what is the dosage ?, +41323,What are the brand names of Topotecan ?, +46228,What should I do if I forget a dose of Emtricitabine ?, +384,What are the treatments for osteoglophonic dysplasia ?,These resources address the diagnosis or management of osteoglophonic dysplasia: - Genetic Testing Registry: Osteoglophonic dysplasia - Seattle Children's Hospital: Dwarfism and Bone Dysplasias These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care +14712,What is (are) Knee Replacement ?,"Knee replacement is surgery for people with severe knee damage. Knee replacement can relieve pain and allow you to be more active. Your doctor may recommend it if you have knee pain and medicine and other treatments are not helping you anymore. When you have a total knee replacement, the surgeon removes damaged cartilage and bone from the surface of your knee joint and replaces them with a man-made surface of metal and plastic. In a partial knee replacement, the surgeon only replaces one part of your knee joint. The surgery can cause scarring, blood clots, and, rarely, infections. After a knee replacement, you will no longer be able to do certain activities, such as jogging and high-impact sports." +42134,What should I do if I forget a dose of Ivabradine ?, +16619,What are the complications of Sensorimotor polyneuropathy ?, +22984,What is the outlook for Digitalis toxicity ?, +39634,How should Escitalopram be used and what is the dosage ?, +15610,How to diagnose Heart Failure ?,"Diagnosing Heart Failure There is not one specific test to diagnose heart failure. Because the symptoms are common for other conditions, your doctor will determine if you have heart failure by doing a detailed medical history, an examination, and several tests. The tests will identify whether you have any diseases or conditions that can cause heart failure. They will also rule out any other causes of your symptoms and determine the amount of damage to your heart. During a physical examination, you can expect your doctor to listen to your heart for abnormal sounds and listen to your lungs for a buildup of fluid. Your doctor will also look for swelling in your ankles, feet, legs, abdomen, and in the veins in your neck If your doctor determines that you have signs of heart failure, he or she may order several tests. Diagnostic Tests Tests that are given to determine heart failure include an electrocardiogram (EKG or ECG), a chest x-ray, and a BNP blood test. An EKG or ECG -- electrocardiogram -- measures the rate and regularity of your heartbeat. This test can also show if you have had a heart attack and whether the walls of your heart have thickened. A chest X-ray takes a picture of your heart and lungs. It will show whether your heart is enlarged or your lungs have fluid in them, both signs of heart failure. A BNP blood test measures the level of a hormone in your blood called BNP -- brain natriuretic peptide -- that increases in heart failure. Once these initial tests have been performed, your doctor may decide to send you to a cardiologist, a specialist in the diagnosis and treatment of heart disease. A cardiologist will perform a physical exam and may order other tests. Other Tests Tests that can identify the cause of heart failure include an echocardiogram, a Holter monitor, and an exercise stress test. An echocardiogram is one of the most useful tests for diagnosing heart failure. This test uses sound waves to create a picture of the heart and shows how well the heart is filling with blood. Your doctor uses this test to determine whether any areas of your heart are damaged. A Holter monitor, which is a small box that is attached to patches placed on your chest. The monitor, which is worn for 24 hours, provides a continuous recording of heart rhythm during normal activity. An exercise stress test captures your EKG and blood pressure before, during, or after exercise to see how your heart responds to exercise. This test tells doctors how your heart responds to activity." +39014,What important warning or information should I know about Tolcapone ?, +46361,What should I do if I forget a dose of Canagliflozin ?, +14498,Do you have information about Tubal Ligation,"Summary : Tubal ligation (getting your ""tubes tied"") is a type of surgery. It prevents a woman from getting pregnant. It is a permanent form of birth control. The surgery closes the fallopian tubes, which connect the ovaries to the uterus. It usually takes about 30 minutes. Almost all women go home the same day. Women can return to most normal activities within a few days. Tubal ligation can sometimes be reversed, but not always." +5650,What are the symptoms of Medullary cystic kidney disease ?,"What are the signs and symptoms of Medullary cystic kidney disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Medullary cystic kidney disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Adult onset - Anemia - Autosomal dominant inheritance - Cerebral cortical atrophy - Decreased glomerular filtration rate - Elevated serum creatinine - Glomerulosclerosis - Gout - Hypertension - Hypotension - Impaired renal uric acid clearance - Multiple small medullary renal cysts - Renal cortical atrophy - Renal corticomedullary cysts - Renal hypoplasia - Renal salt wasting - Stage 5 chronic kidney disease - Tubular atrophy - Tubular basement membrane disintegration - Tubulointerstitial fibrosis - Tubulointerstitial nephritis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common." +47257,How should Ziprasidone Injection be used and what is the dosage ?, +25075,What is (are) Isolated sleep paralysis ?, +43872,Who should get Magnesium Oxide and why is it prescribed ?, +39729,What to do in case of emergency or overdose of Olmesartan ?, +25930,Who is at risk for Fecal immunochemical test (FIT)? ?, +5430,What is (are) Hypothalamic dysfunction ?,"Hypothalamic dysfunction refers to a condition in which the hypothalamus is not working properly. The hypothalamus produces hormones that control body temperature, hunger, moods, release of hormones from many glands such as the pituitary gland, sex drive, sleep, and thirst. The signs and symptoms patients have vary depending on the hormones missing. A number of different causes including anorexia, bleeding, genetic disorder, tumors, and more have been linked to hypothalamic dysfunction. Treatment depends on the cause of the hypothalamic dysfunction." +36921,What other information should I know about Golimumab Injection ?, +42329,What should I know about storage and disposal of Oxacillin Sodium Injection ?, +4344,What are the treatments for Lennox-Gastaut syndrome ?,"These resources address the diagnosis or management of Lennox-Gastaut syndrome: - Cleveland Clinic - Genetic Testing Registry: Epileptic encephalopathy Lennox-Gastaut type - National Institute of Neurological Disorders and Stroke: Diagnosis and Treatment of Epilepsy - News Release: FDA Approves New Drug to Treat Severe Form of Epilepsy (U.S. Food and Drug Administration, November 20, 2008) These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care" +7107,What are the symptoms of Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy ?,"What are the signs and symptoms of Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of adipose tissue 90% Abnormality of epiphysis morphology 90% Arthralgia 90% Behavioral abnormality 90% Bone cyst 90% Bone pain 90% Cerebral cortical atrophy 90% Developmental regression 90% Limitation of joint mobility 90% Memory impairment 90% Reduced bone mineral density 90% Skeletal dysplasia 90% Ventriculomegaly 90% Agnosia 50% Cerebral calcification 50% Chorea 50% Hypertonia 50% Neurological speech impairment 50% Oculomotor apraxia 50% Seizures 50% Abnormality of the abdominal organs 7.5% Acute leukemia 7.5% Hydrocephalus 7.5% Abnormal upper motor neuron morphology - Abnormality of the foot - Abnormality of the hand - Aggressive behavior - Apraxia - Autosomal recessive inheritance - Axonal loss - Babinski sign - Basal ganglia calcification - Caudate atrophy - Cerebral atrophy - Disinhibition - EEG abnormality - Frontal lobe dementia - Gait disturbance - Gliosis - Hypoplasia of the corpus callosum - Lack of insight - Leukoencephalopathy - Myoclonus - Pathologic fracture - Peripheral demyelination - Personality changes - Primitive reflexes (palmomental, snout, glabellar) - Spasticity - Urinary incontinence - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common." +5626,What is (are) Facioscapulohumeral muscular dystrophy ?,"Facioscapulohumeral muscular dystrophy is a disorder characterized by muscle weakness and wasting (atrophy). This condition gets its name from the areas of the body that are affected most often: muscles in the face (facio-), around the shoulder blades (scapulo-), and in the upper arms (humeral). The signs and symptoms of facioscapulohumeral muscular dystrophy usually appear in adolescence. However, the onset and severity of the condition varies widely. Facioscapulohumeral muscular dystrophy results from a deletion of genetic material from a region of DNA known as D4Z4. This region is located near one end of chromosome 4. It is inherited in an autosomal dominant pattern." +30207,What is the outlook for Amaurosis fugax ?, +26240,What is (are) Hallucinations ?, +43684,What should I do if I forget a dose of Ertapenem Injection ?, +34197,What are the complications of Biliary Atresia ?,"After the Kasai procedure, some infants continue to have liver problems and, even with the return of bile flow, some infants develop cirrhosis. Possible complications after the Kasai procedure include ascites, bacterial cholangitis, portal hypertension, and pruritus. + +Ascites. Problems with liver function can cause fluid to build up in the abdomen, called ascites. Ascites can lead to spontaneous bacterial peritonitis, a serious infection that requires immediate medical attention. Ascites usually only lasts a few weeks. If ascites lasts more than 6 weeks, cirrhosis is likely present and the infant will probably need a liver transplant. + +Bacterial cholangitis. Bacterial cholangitis is an infection of the bile ducts that is treated with bacteria-fighting medications called antibiotics. + +Portal hypertension. The portal vein carries blood from the stomach, intestines, spleen, gallbladder, and pancreas to the liver. In cirrhosis, scar tissue partially blocks and slows the normal flow of blood, which increases the pressure in the portal vein. This condition is called portal hypertension. Portal hypertension can cause gastrointestinal bleeding that may require surgery and an eventual liver transplant. + +Pruritus. Pruritus is caused by bile buildup in the blood and irritation of nerve endings in the skin. Prescription medication may be recommended for pruritus, including resins that bind bile in the intestines and antihistamines that decrease the skins sensation of itching." +31475,What are the treatments for Urinary tract infection - children ?, +22842,Do you have information about Cribs and crib safety, +23849,What are the symptoms of Malathion poisoning ?, +18835,Do you have information about Stomach acid test, +14504,What is (are) Diabetes Complications ?,"If you have diabetes, your blood glucose, or blood sugar, levels are too high. Over time, this can cause problems with other body functions, such as your kidneys, nerves, feet, and eyes. Having diabetes can also put you at a higher risk for heart disease and bone and joint disorders. Other long-term complications of diabetes include skin problems, digestive problems, sexual dysfunction, and problems with your teeth and gums. Very high or very low blood sugar levels can also lead to emergencies in people with diabetes. The cause can be an underlying infection, certain medicines, or even the medicines you take to control your diabetes. If you feel nauseated, sluggish or shaky, seek emergency care. NIH: National Institute of Diabetes and Digestive and Kidney Diseases" +13917,What are the treatments for Tetralogy of Fallot ?,"Tetralogy of Fallot is repaired with open-heart surgery, either soon after birth or later in infancy. The goal of surgery is to repair the four defects of tetralogy of Fallot so the heart can work as normally as possible. Repairing the defects can greatly improve a child's health and quality of life. + +The pediatric cardiologist and cardiac surgeon will decide the best time to do the surgery. They will base their decision on your baby's health and weight and the severity of the defects and symptoms. + +Some teenagers or adults who had tetralogy of Fallot repaired in childhood need additional surgery to correct heart problems that develop over time. For more information, go to ""Living With Tetralogy of Fallot."" + +Types of Surgery + +Complete Intracardiac Repair + +Surgery to repair tetralogy of Fallot improves blood flow to the lungs. Surgery also ensures that oxygen-rich and oxygen-poor blood flow to the right places. + +The surgeon will: + +Widen the narrowed pulmonary blood vessels. The pulmonary valve is widened or replaced. Also, the passage from the right ventricle to the pulmonary artery is enlarged. These procedures improve blood flow to the lungs. This allows the blood to get enough oxygen to meet the body's needs. + +Repair the ventricular septal defect (VSD). A patch is used to cover the hole in the septum. This patch stops oxygen-rich and oxygen-poor blood from mixing between the ventricles. + +Fixing these two defects resolves problems caused by the other two defects. When the right ventricle no longer has to work so hard to pump blood to the lungs, it will return to a normal thickness. Fixing the VSD means that only oxygen-rich blood will flow out of the left ventricle into the aorta. + +The incision (cut) that the surgeon makes to reach the heart usually heals in about 6weeks. The surgeon or a hospital staff member will explain when it's okay to give your baby a bath, pick him or her up under the arms, and take your baby for regular shots (immunizations). + +Temporary or Palliative Surgery + +It was common in the past to do temporary surgery during infancy for tetralogy of Fallot. This surgery improved blood flow to the lungs. A complete repair of the four defects was done later in childhood. + +Now, tetralogy of Fallot usually is fully repaired in infancy. However, some babies are too weak or too small to have the full repair. They must have temporary surgery first. This surgery improves oxygen levels in the blood. The surgery also gives the baby time to grow and get strong enough for the full repair. + +For temporary surgery, the surgeon places a tube between a large artery branching off the aorta and the pulmonary artery. The tube is called a shunt. One end of the shunt is sewn to the artery branching off the aorta. The other end is sewn to the pulmonary artery. + +The shunt creates an additional pathway for blood to travel to the lungs to get oxygen. The surgeon removes the shunt when the baby's heart defects are fixed during the full repair. + +After temporary surgery, your baby may need medicines to keep the shunt open while waiting for the full repair. These medicines are stopped after the surgeon removes the shunt." +22681,What is (are) Kidney stones - self-care ?, +45383,What important warning or information should I know about Ribavirin ?, +23725,What are the treatments for Renal papillary necrosis ?, +22544,Do I need to see a doctor for Cardiac tamponade ?, +43913,Are there safety concerns or special precautions about Osimertinib ?, +26469,What causes Encopresis ?, +35250,What should I do if I forget a dose of Paregoric ?, +43973,What other information should I know about Telaprevir ?, +12135,What is the dosage of Manganese ?, +6946,What is (are) Gaucher disease ?,"Gaucher disease refers to a group of inherited conditions that affect many organs and tissues in the body. Signs and symptoms vary widely among affected individuals. There are different types of this condition: Gaucher disease perinatal lethal, Gaucher disease type 1, Gaucher disease type 2, and Gaucher disease type 3. Gaucher disease type 1 is the most common form of this condition. Gaucher disease is inherited in an autosomal recessive fashion and is caused by mutations in the GBA gene." +15065,What are the symptoms of Diabetic Retinopathy ?,"At first, you will see a few specks of blood, or spots, ""floating"" in your vision. If spots occur, see your eye care professional as soon as possible. You may need treatment before more serious bleeding or hemorrhaging occurs. Hemorrhages tend to happen more than once, often during sleep. Sometimes, the spots clear without treatment, and you will see better. However, bleeding can reoccur and cause severely blurred vision. You need to be examined by your eye care professional at the first sign of blurred vision, before more bleeding occurs. If left untreated, proliferative retinopathy can cause severe vision loss and even blindness. Also, the earlier you receive treatment, the more likely treatment will be effective." +14645,What is (are) Interstitial Lung Diseases ?,"Interstitial lung disease is the name for a large group of diseases that inflame or scar the lungs. The inflammation and scarring make it hard to get enough oxygen. The scarring is called pulmonary fibrosis. Breathing in dust or other particles in the air is responsible for some types of interstitial lung diseases. Specific types include - Black lung disease among coal miners, from inhaling coal dust - Farmer's lung, from inhaling farm dust - Asbestosis, from inhaling asbestos fibers - Siderosis, from inhaling iron from mines or welding fumes - Silicosis, from inhaling silica dust Other causes include autoimmune diseases or occupational exposures to molds, gases, or fumes. Some types of interstitial lung disease have no known cause. Treatment depends on the type of exposure and the stage of the disease. It may involve medicines, oxygen therapy, or a lung transplant in severe cases." +34820,Who should get Iloprost and why is it prescribed ?, +29825,How to diagnose Truncus arteriosus ?, +25214,What to do for Carbolic acid poisoning ?, +9294,What are the symptoms of Cleft palate X-linked ?,"What are the signs and symptoms of Cleft palate X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleft palate X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Bifid uvula - Cleft palate - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common." +226,How many people are affected by Lowe syndrome ?,"Lowe syndrome is an uncommon condition. It has an estimated prevalence of 1 in 500,000 people." +18868,How to diagnose Anal cancer ?, +43675,What are the side effects or risks of Darunavir ?, +17425,Do you have information about Bee poison, +26906,What is (are) Enlarged prostate - after care ?, +4110,What is (are) Brugada syndrome ?,"Brugada syndrome is a condition that causes a disruption of the heart's normal rhythm. Specifically, this disorder can lead to irregular heartbeats in the heart's lower chambers (ventricles), which is an abnormality called ventricular arrhythmia. If untreated, the irregular heartbeats can cause fainting (syncope), seizures, difficulty breathing, or sudden death. These complications typically occur when an affected person is resting or asleep. Brugada syndrome usually becomes apparent in adulthood, although it can develop any time throughout life. Signs and symptoms related to arrhythmias, including sudden death, can occur from early infancy to late adulthood. Sudden death typically occurs around age 40. This condition may explain some cases of sudden infant death syndrome (SIDS), which is a major cause of death in babies younger than 1 year. SIDS is characterized by sudden and unexplained death, usually during sleep. Sudden unexplained nocturnal death syndrome (SUNDS) is a condition characterized by unexpected cardiac arrest in young adults, usually at night during sleep. This condition was originally described in Southeast Asian populations, where it is a major cause of death. Researchers have determined that SUNDS and Brugada syndrome are the same disorder." +17345,What are the symptoms of Iron overdose ?, +36896,What are the side effects or risks of Cefadroxil ?, +38738,What are the brand names of Ketotifen Ophthalmic ?, +30883,What causes Bronchiolitis ?, +34578,What should I know about storage and disposal of Stavudine ?, +26010,What causes Varicocele ?, +14061,What is (are) Sleep Apnea ?,"Sleep apnea is a common disorder that causes your breathing to stop or get very shallow. Breathing pauses can last from a few seconds to minutes. They may occur 30 times or more an hour. The most common type is obstructive sleep apnea. It causes your airway to collapse or become blocked during sleep. Normal breathing starts again with a snort or choking sound. People with sleep apnea often snore loudly. However, not everyone who snores has sleep apnea. You are more at risk for sleep apnea if you are overweight, male, or have a family history or small airways. Children with enlarged tonsils may also get it. Doctors diagnose sleep apnea based on medical and family histories, a physical exam, and sleep study results. When your sleep is interrupted throughout the night, you can be drowsy during the day. People with sleep apnea are at higher risk for car crashes, work-related accidents, and other medical problems. If you have it, it is important to get treatment. Lifestyle changes, mouthpieces, surgery, and breathing devices can treat sleep apnea in many people. NIH: National Heart, Lung, and Blood Institute" +1987,What are the genetic changes related to Apert syndrome ?,"Mutations in the FGFR2 gene cause Apert syndrome. This gene produces a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development. A mutation in a specific part of the FGFR2 gene alters the protein and causes prolonged signaling, which can promote the premature fusion of bones in the skull, hands, and feet." +28888,What is (are) Anisocoria ?, +42648,What are the side effects or risks of Levofloxacin ?, +15,What is (are) lacrimo-auriculo-dento-digital syndrome ?,"Lacrimo-auriculo-dento-digital (LADD) syndrome is a genetic disorder that mainly affects the eyes, ears, mouth, and hands. LADD syndrome is characterized by defects in the tear-producing lacrimal system (lacrimo-), ear problems (auriculo-), dental abnormalities (dento-), and deformities of the fingers (digital). The lacrimal system consists of structures in the eye that produce and secrete tears. Lacrimal system malformations that can occur with LADD syndrome include an underdeveloped or absent opening to the tear duct at the edge of the eyelid (lacrimal puncta) and blockage of the channel (nasolacrimal duct) that connects the inside corner of the eye where tears gather (tear sac) to the nasal cavity. These malformations of the lacrimal system can lead to chronic tearing (epiphora), inflammation of the tear sac (dacryocystitis), inflammation of the front surface of the eye (keratoconjunctivitis), or an inability to produce tears. Ears that are low-set and described as cup-shaped, often accompanied by hearing loss, are a common feature of LADD syndrome. The hearing loss may be mild to severe and can be caused by changes in the inner ear (sensorineural deafness), changes in the middle ear (conductive hearing loss), or both (mixed hearing loss). People with LADD syndrome may have underdeveloped or absent salivary glands, which impairs saliva production. A decrease in saliva leads to dry mouth (xerostomia) and a greater susceptibility to cavities. Individuals with LADD syndrome often have small, underdeveloped teeth with thin enamel and peg-shaped front teeth (incisors). Hand deformities are also a frequent feature of LADD syndrome. Affected individuals may have abnormally small or missing thumbs. Alternatively, the thumb might be duplicated, fused with the index finger (syndactyly), abnormally placed, or have three bones instead of the normal two and resemble a finger. Abnormalities of the fingers include syndactyly of the second and third fingers, extra or missing fingers, and curved pinky fingers (fifth finger clinodactyly). Sometimes, the forearm is also affected. It can be shorter than normal with abnormal wrist and elbow joint development that limits movement. People with LADD syndrome may also experience other signs and symptoms. They can have kidney problems that include hardening of the kidneys (nephrosclerosis) and urine accumulation in the kidneys (hydronephrosis), which can impair kidney function. Recurrent urinary tract infections and abnormalities of the genitourinary system can also occur. Some people with LADD syndrome have an opening in the roof of the mouth (cleft palate) with or without a split in the upper lip (cleft lip). The signs and symptoms of this condition vary widely, even among affected family members." +11074,What is the outlook for Reye's Syndrome ?,"Recovery from RS is directly related to the severity of the swelling of the brain. Some people recover completely, while others may sustain varying degrees of brain damage. Those cases in which the disorder progresses rapidly and the patient lapses into a coma have a poorer prognosis than those with a less severe course. Statistics indicate that when RS is diagnosed and treated in its early stages, chances of recovery are excellent. When diagnosis and treatment are delayed, the chances for successful recovery and survival are severely reduced. Unless RS is diagnosed and treated successfully, death is common, often within a few days." +18680,How to diagnose Alopecia areata ?, +45301,What are the side effects or risks of Desmopressin Oral ?, +36763,What should I do if I forget a dose of Acarbose ?, +38317,What other information should I know about Linagliptin ?, +17123,What to do for Indigestion ?, +30019,What is (are) Animal bites - self-care ?, +3623,Is DICER1 syndrome inherited ?,"DICER1 syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder. It is important to note that people inherit an increased risk of tumors; many people who have mutations in the DICER1 gene do not develop abnormal growths." +23338,What are the treatments for Lacrimal gland tumor ?, +16664,Do I need to see a doctor for Congenital rubella ?, +7339,What is (are) Peters plus syndrome ?,"Peters plus syndrome is a genetic condition characterized by abnormalities of the front part of the eye called the anterior chamber, short stature, cleft lip with or without cleft palate, and distinctive facial features. The most common eye abnormality is Peters anomaly which involves the thinning and clouding of the cornea and attachment of the iris to the cornea causing blurred vision. Other eye abnormalities such as glaucoma and cataracts are common. The severity of symptoms may vary from person to person. The only gene that has been associated with Peters plus syndrome is B3GALTL. The syndrome is inherited in an autosomal recessive fashion. Treatment varies based on the severity of the symptoms; however, regular appointments with an ophthalmologist and avoidance of agents that increase the risk of glaucoma (e.g., corticosteroids) is recommended." +40202,What should I do if I forget a dose of Anagrelide ?, +46661,What are the side effects or risks of Senna ?, +6857,What are the symptoms of Multiple system atrophy ?,"What are the signs and symptoms of Multiple system atrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple system atrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 5% Adult onset - Anhidrosis - Ataxia - Autosomal dominant inheritance - Autosomal recessive inheritance - Babinski sign - Bradykinesia - Dysarthria - Dysautonomia - Gaze-evoked nystagmus - Hyperreflexia - Hypohidrosis - Impotence - Iris atrophy - Neurodegeneration - Olivopontocerebellar atrophy - Orthostatic hypotension - Parkinsonism - Phenotypic variability - Postural instability - Progressive - Ptosis - Rigidity - Skeletal muscle atrophy - Sporadic - Tremor - Urinary incontinence - Urinary urgency - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common." +28301,What are the complications of Hepatorenal syndrome ?, +23580,What are the complications of Ventricular septal defect ?, +24625,How to diagnose Colorectal polyps ?, +23359,What is (are) Superficial thrombophlebitis ?, +44535,What to do in case of emergency or overdose of Diclofenac and Misoprostol ?, +23613,Do I need to see a doctor for Otitis media with effusion ?, +23015,What are the complications of Human bites - self-care ?, +2430,What is (are) hereditary spherocytosis ?,"Hereditary spherocytosis is a condition that affects red blood cells. People with this condition typically experience a shortage of red blood cells (anemia), yellowing of the eyes and skin (jaundice), and an enlarged spleen (splenomegaly). Most newborns with hereditary spherocytosis have severe anemia, although it improves after the first year of life. Splenomegaly can occur anytime from early childhood to adulthood. About half of affected individuals develop hard deposits in the gallbladder called gallstones, which typically occur from late childhood to mid-adulthood. There are four forms of hereditary spherocytosis, which are distinguished by the severity of signs and symptoms. They are known as the mild form, the moderate form, the moderate/severe form, and the severe form. It is estimated that 20 to 30 percent of people with hereditary spherocytosis have the mild form, 60 to 70 percent have the moderate form, 10 percent have the moderate/severe form, and 3 to 5 percent have the severe form. People with the mild form may have very mild anemia or sometimes have no symptoms. People with the moderate form typically have anemia, jaundice, and splenomegaly. Many also develop gallstones. The signs and symptoms of moderate hereditary spherocytosis usually appear in childhood. Individuals with the moderate/severe form have all the features of the moderate form but also have severe anemia. Those with the severe form have life-threatening anemia that requires frequent blood transfusions to replenish their red blood cell supply. They also have severe splenomegaly, jaundice, and a high risk for developing gallstones. Some individuals with the severe form have short stature, delayed sexual development, and skeletal abnormalities." +41355,Who should get Tipranavir and why is it prescribed ?, +46178,"What are the side effects or risks of Diphtheria, Tetanus, and Pertussis (DTaP) Vaccine ?", +32046,How to diagnose Tuberous sclerosis ?, +12105,How effective is Shark cartilage ?, +20230,What are the complications of Miscarriage - threatened ?, +35540,How should Naloxegol be used and what is the dosage ?, +44200,Are there safety concerns or special precautions about Metoprolol ?, +379,What are the treatments for triple A syndrome ?,These resources address the diagnosis or management of triple A syndrome: - Genetic Testing Registry: Glucocorticoid deficiency with achalasia - MedlinePlus Encyclopedia: Achalasia - MedlinePlus Encyclopedia: Anisocoria These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care +35159,Who should get Methenamine and why is it prescribed ?, +31224,What are the treatments for Pelvic inflammatory disease (PID) - aftercare ?, +43743,What are the brand names of Ticagrelor ?, +23056,What are the treatments for Chronic subdural hematoma ?, +6852,What is (are) Acquired pure red cell aplasia ?,"Acquired pure red cell aplasia (PRCA) is a bone marrow disorder characterized by a reduction of red blood cells (erythrocytes) produced by the bone marrow. Signs and symptoms may include fatigue, lethargy, and/or abnormal paleness of the skin (pallor) due to the anemia the caused by the disorder. In most cases, the cause of acquired PRCA is unknown (idiopathic). In other cases it may occur secondary to autoimmune disorders, tumors of the thymus gland (thymomas), hematologic cancers, solid tumors, viral infections, or certain drugs. Treatment depends on the cause of the condition (if known) but often includes transfusions for individuals who are severely anemic and have cardiorespiratory failure." +9727,"What are the symptoms of Heart-hand syndrome, Slovenian type ?","What are the signs and symptoms of Heart-hand syndrome, Slovenian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Heart-hand syndrome, Slovenian type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Myopathy 5% Aplasia of the middle phalanx of the hand - Autosomal dominant inheritance - Brachydactyly syndrome - Clinodactyly - Dilated cardiomyopathy - Syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common." +39299,How should Tenofovir be used and what is the dosage ?, +5762,What are the symptoms of Fibrodysplasia ossificans progressiva ?,"What are the signs and symptoms of Fibrodysplasia ossificans progressiva? Fibrodysplasia ossificans progressiva (FOP) is characterized by the gradual replacement of muscle tissue and connective tissue (such as tendons and ligaments) by bone, restricting movement. This process generally becomes noticeable in early childhood, starting with the neck and shoulders and proceeding down the body and into the limbs. The formation of extra-skeletal bone causes progressive loss of mobility as the joints become affected. Speaking and eating may also become difficult as the mouth becomes affected. Over time, people with FOP may become malnourished because of the inability to eat. They may also develop breathing difficulties as a result of extra bone formation around the rib cage that restricts expansion of the lungs. Any trauma to the muscles of an individual with FOP (a fall or an invasive medical procedure) may trigger episodes of muscle swelling and inflammation followed by more rapid ossification in the injured area. Flare-ups may also be caused by viral illnesses such as the flu. People with FOP are generally born with malformed big toes. This abnormality of the big toes is a characteristic feature that helps to distinguish this disorder from other bone and muscle problems. Affected individuals may also have short thumbs and other skeletal abnormalities. The Human Phenotype Ontology provides the following list of signs and symptoms for Fibrodysplasia ossificans progressiva. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the skin 90% Ectopic calcification 90% Limitation of joint mobility 90% Short hallux 90% Spinal rigidity 90% Clinodactyly of the 5th finger 50% Respiratory insufficiency 50% Anemia 7.5% Cognitive impairment 7.5% Glaucoma 7.5% Hallux valgus 7.5% Seizures 7.5% Intellectual disability 6% Abnormality of the first metatarsal bone - Alopecia - Autosomal dominant inheritance - Broad femoral neck - Conductive hearing impairment - Ectopic ossification in ligament tissue - Ectopic ossification in muscle tissue - Ectopic ossification in tendon tissue - Metaphyseal widening - Progressive cervical vertebral spine fusion - Respiratory failure - Scoliosis - Sensorineural hearing impairment - Short 1st metacarpal - Small cervical vertebral bodies - Widely spaced teeth - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common." +40347,What other information should I know about Ezetimibe ?, +9961,What are the symptoms of Ectodermal dysplasia skin fragility syndrome ?,"What are the signs and symptoms of Ectodermal dysplasia skin fragility syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectodermal dysplasia skin fragility syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Abnormality of the eyebrow 90% Abnormality of the nail 90% Alopecia 90% Palmoplantar keratoderma 90% Skin ulcer 90% Blepharitis 50% Dry skin 50% Furrowed tongue 50% Malabsorption 50% Pruritus 50% Woolly hair 7.5% Ectodermal dysplasia - Fragile skin - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common." +16511,What causes Chronic cholecystitis ?, +7942,How to diagnose 17q23.1q23.2 microdeletion syndrome ?,How is 17q23.1q23.2 microdeletion syndrome diagnosed? The deletion can be identified by comparative genomic hybridization (CGH) microarray and fluorescence in situ hybridization (FISH). +40828,What are the brand names of Clindamycin Vaginal ?, +11356,What is the outlook for Gerstmann-Straussler-Scheinker Disease ?,"GSS is a slowly progressive condition usually lasting from 2 to 10 years. The disease ultimately causes severe disability and finally death, often after the patient goes into a coma or has a secondary infection such as aspiration pneumonia due to an impaired ability to swallow." +9476,What is (are) Achondroplasia and severe combined immunodeficiency ?,"Achondroplasia with severe combined immunodeficiency is an extremely rare type of SCID. The condition is characterized by the classic signs of SCID, including severe and recurrent infections, diarrhea, failure to thrive, and absence of T and B lymphocytes along with skeletal anomalies like short stature, bowing of the long bones and other abnormalities affecting the ends of the long bones (metaphyseal abnormalities). Children with this condition have a shortened life expectancy, generally surviving only into early childhood. Achondroplasia with severe combined immunodeficiency is inherited in an autosomal recessive manner." +32599,What is (are) Becker muscular dystrophy ?, +29613,How to diagnose Amblyopia ?, +21289,Do you have information about Osmotic diuresis, +35245,What other information should I know about Mifepristone (Korlym) ?, +25794,How to prevent Enteritis ?, +28881,How to diagnose Angelman syndrome ?, +14295,What is (are) Hidradenitis Suppurativa ?,"Hidradenitis suppurativa (HS) is a chronic skin disease. It can occur in one or multiple areas of your body. HS usually develops in your armpits, groin, and anal area. It causes long-term skin inflammation and can be painful. Symptoms include - Blackheads and red, tender bumps, called abscesses. The abscesses get bigger, break open, and leak pus - Tunnels that form under the skin between abscesses - Scarring No one knows what causes HS. It is more common in women, African Americans, and people who have had acne. It usually starts after the teenage years. Treatments include antibiotics, anti-inflammatory medicines, and sometimes surgery. Losing weight or wearing looser clothing may help some patients avoid skin irritation." +15324,What is (are) Prostate Cancer ?,"The prostate is a male sex gland, about the size of a large walnut. It is located below the bladder and in front of the rectum. The prostate's main function is to make fluid for semen, a white substance that carries sperm. Prostate cancer occurs when a tumor forms in the tissue of the prostate. In its early stage, prostate cancer needs the male hormone testosterone to grow and survive." +16059,What is the outlook for Ramsay Hunt syndrome ?, +14201,What is (are) Vision Impairment and Blindness ?,"If you have low vision, eyeglasses, contact lenses, medicine, or surgery may not help. Activities like reading, shopping, cooking, writing, and watching TV may be hard to do. The leading causes of low vision and blindness in the United States are age-related eye diseases: macular degeneration, cataract and glaucoma. Other eye disorders, eye injuries and birth defects can also cause vision loss. Whatever the cause, lost vision cannot be restored. It can, however, be managed. A loss of vision means that you may have to reorganize your life and learn new ways of doing things. If you have some vision, visual aids such as special glasses and large print books can make life easier. There are also devices to help those with no vision, like text-reading software and braille books. The sooner vision loss or eye disease is found and treated, the greater your chances of keeping your remaining vision. You should have regular comprehensive eye exams by an eye care professional. NIH: National Eye Institute" +42082,What should I know about storage and disposal of Pomalidomide ?, +6717,What causes Wolff-Parkinson-White syndrome ?,"What causes Wolff-Parkinson-White syndrome? Normally, electrical signals in the heart go through a pathway that helps the heart beat regularly. The wiring of the heart prevents extra beats from occurring and keeps the next beat from happening too soon. In people with Wolff Parkinson White syndrome, there is an extra, or accessory, pathway that may cause a very rapid heart rate. This extra electrical pathway is present at birth. A mutation in the PRKAG2 gene is the cause of a small percentage of cases of the disorder. Otherwise, little is known about why this extra pathway develops." +202,What are the genetic changes related to Greenberg dysplasia ?,"Mutations in the LBR gene cause Greenberg dysplasia. This gene provides instructions for making a protein called the lamin B receptor. One region of this protein, called the sterol reductase domain, plays an important role in the production (synthesis) of cholesterol. Cholesterol is a type of fat that is produced in the body and obtained from foods that come from animals: eggs, meat, fish, and dairy products. Cholesterol is necessary for normal embryonic development and has important functions both before and after birth. Cholesterol is an important component of cell membranes and the protective substance covering nerve cells (myelin). Additionally, cholesterol plays a role in the production of certain hormones and digestive acids. During cholesterol synthesis, the sterol reductase function of the lamin B receptor allows the protein to perform one of several steps that convert a molecule called lanosterol to cholesterol. LBR gene mutations involved in Greenberg dysplasia lead to loss of the sterol reductase function of the lamin B receptor, and research suggests that this loss causes the condition. Absence of the sterol reductase function disrupts the normal synthesis of cholesterol within cells. This absence may also allow potentially toxic byproducts of cholesterol synthesis to build up in the body's tissues. Researchers suspect that low cholesterol levels or an accumulation of other substances disrupts the growth and development of many parts of the body. It is not known, however, how a disturbance of cholesterol synthesis leads to the specific features of Greenberg dysplasia." +38560,What are the side effects or risks of Clarithromycin ?, +24971,What is (are) Graft-versus-host disease ?, +5307,What are the genetic changes related to mandibuloacral dysplasia ?,"The two forms of mandibuloacral dysplasia are caused by mutations in different genes. Mutations in the LMNA gene cause MADA, and mutations in the ZMPSTE24 gene cause MADB. Within cells, these genes are involved in maintaining the structure of the nucleus and may play a role in many cellular processes. The LMNA gene provides instructions for making two related proteins, lamin A and lamin C. These proteins act as scaffolding (supporting) components of the nuclear envelope, which is the membrane that surrounds the nucleus in cells. The nuclear envelope regulates the movement of molecules into and out of the nucleus and may help regulate the activity of certain genes. Mutations in this gene likely change the structure of lamin A and lamin C. The lamin A protein (but not lamin C) must be processed within the cell before becoming part of the nuclear envelope. The protein produced from the ZMPSTE24 gene is involved in this processing; it cuts the immature lamin A protein (prelamin A) at a particular location, forming mature lamin A. Mutations in the ZMPSTE24 gene lead to a buildup of prelamin A and a shortage of the mature protein. Mutations in the LMNA or ZMPSTE24 gene likely disrupt the structure of the nuclear envelope. Researchers are working to understand how these genetic changes result in the signs and symptoms of mandibuloacral dysplasia." +44953,What special dietary instructions should I follow with Cefditoren ?, +3140,What is (are) microcephalic osteodysplastic primordial dwarfism type II ?,"Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a condition characterized by short stature (dwarfism) with other skeletal abnormalities (osteodysplasia) and an unusually small head size (microcephaly). The growth problems in MOPDII are primordial, meaning they begin before birth, with affected individuals showing slow prenatal growth (intrauterine growth retardation). After birth, affected individuals continue to grow at a very slow rate. The final adult height of people with this condition ranges from 20 inches to 40 inches. Other skeletal abnormalities in MOPDII include abnormal development of the hip joints (hip dysplasia), thinning of the bones in the arms and legs, an abnormal side-to-side curvature of the spine (scoliosis), and shortened wrist bones. In people with MOPDII head growth slows over time; affected individuals have an adult brain size comparable to that of a 3-month-old infant. However, intellectual development is typically normal. People with this condition typically have a high-pitched, nasal voice that results from a narrowing of the voicebox (subglottic stenosis). Facial features characteristic of MOPDII include a prominent nose, full cheeks, a long midface, and a small jaw. Other signs and symptoms seen in some people with MOPDII include small teeth (microdontia) and farsightedness. Over time, affected individuals may develop areas of abnormally light or dark skin coloring (pigmentation). Many individuals with MOPDII have blood vessel abnormalities. For example, some affected individuals develop a bulge in one of the blood vessels at the center of the brain (intracranial aneurysm). These aneurysms are dangerous because they can burst, causing bleeding within the brain. Some affected individuals have Moyamoya disease, in which arteries at the base of the brain are narrowed, leading to restricted blood flow. These vascular abnormalities are often treatable, though they increase the risk of stroke and reduce the life expectancy of affected individuals." +13613,What are the symptoms of Restless Legs Syndrome ?,"The four key signs of restless legs syndrome (RLS) are: + +A strong urge to move your legs. This urge often, but not always, occurs with unpleasant feelings in your legs. When the disorder is severe, you also may have the urge to move your arms. + +Symptoms that start or get worse when you're inactive. The urge to move increases when you're sitting still or lying down and resting. + +Relief from moving. Movement, especially walking, helps relieve the unpleasant feelings. + +Symptoms that start or get worse in the evening or at night. + +You must have all four of these signs to be diagnosed with RLS. + +The Urge To Move + +RLS gets its name from the urge to move the legs when sitting or lying down. This movement relieves the unpleasant feelings that RLS sometimes causes. Typical movements are: + +Pacing and walking + +Jiggling the legs + +Stretching and flexing + +Tossing and turning + +Rubbing the legs + +Unpleasant Feelings + +People who have RLS describe the unpleasant feelings in their limbs as creeping, crawling, pulling, itching, tingling, burning, aching, or electric shocks. Severe RLS may cause painful feelings. However, the pain usually is more of an ache than a sharp, stabbing pain. + +Children may describe RLS symptoms differently than adults. In children, the condition may occur with hyperactivity. However, it's not fully known how the disorders are related. + +The unpleasant feelings from RLS often occur in the lower legs (calves). But the feelings can occur at any place in the legs or feet. They also can occur in the arms. + +The feelings seem to come from deep within the limbs, rather than from the surface. You usually will have the feelings in both legs. However, the feelings can occur in one leg, move from one leg to the other, or affect one leg more than the other. + +People who have mild symptoms may notice them only when they're still or awake for a long time, such as on a long airplane trip or while watching TV. If they fall asleep quickly, they may not have symptoms when lying down at night. + +The unpleasant feelings from RLS aren't the same as the leg cramps many people get at night. Leg cramps often are limited to certain muscle groups in the leg, which you can feel tightening. Leg cramps cause more severe pain and require stretching the affected muscle for relief. + +Sometimes arthritis or peripheral artery disease (P.A.D.) can cause pain or discomfort in the legs. Moving the limbs usually worsens the discomfort instead of relieving it. + +Periodic Limb Movement in Sleep + +Many people who have RLS also have a condition called periodic limb movement in sleep (PLMS). PLMS causes your legs or arms to twitch or jerk about every 10 to 60 seconds during sleep. These movements cause you to wake up often and get less sleep. + +PLMS usually affects the legs, but it also can affect the arms. Not everyone who has PLMS also has RLS. + +Related Sleep Problems + +RLS can make it hard to fall or stay asleep. If RLS disturbs your sleep, you may feel very tired during the day. + +Lack of sleep may make it hard for you to concentrate at school or work. Not enough sleep also can cause depression, mood swings, and other health problems such as diabetes or high blood pressure." +35224,What other information should I know about Perampanel ?, +20542,How to prevent Small intestinal ischemia and infarction ?, +31073,Do you have information about Cervix cryosurgery, +25235,What are the symptoms of Hyperthyroidism ?, +511,How many people are affected by familial Mediterranean fever ?,"Familial Mediterranean fever primarily affects populations originating in the Mediterranean region, particularly people of Armenian, Arab, Turkish, or Jewish ancestry. The disorder affects 1 in 200 to 1,000 people in these populations. It is less common in other populations." +45175,What should I know about storage and disposal of Vancomycin ?, +47363,What other information should I know about Sildenafil ?, +3371,How many people are affected by biotinidase deficiency ?,"Profound or partial biotinidase deficiency occurs in approximately 1 in 60,000 newborns" +2138,Is Brooke-Spiegler syndrome inherited ?,"Susceptibility to Brooke-Spiegler syndrome has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell increases the risk of developing this condition. However, a second, non-inherited mutation is required for development of skin appendage tumors in this disorder." +938,Is Klippel-Feil syndrome inherited ?,"When Klippel-Feil syndrome is caused by mutations in the GDF6 or GDF3 genes, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. When caused by mutations in the MEOX1 gene, Klippel-Feil syndrome is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. As a feature of another disorder, Klippel-Feil syndrome is inherited in whatever pattern the other disorder follows." +26327,Do you have information about Dialysis centers - what to expect, +24711,What are the treatments for Ovarian cysts ?, +23615,What is (are) Ectopic heartbeat ?, +37745,What should I do if I forget a dose of Tetrahydrozoline Ophthalmic ?, +25596,What causes Substance use disorder ?, +16362,What is (are) Bacterial vaginosis - aftercare ?, +10171,What is (are) Diffuse idiopathic skeletal hyperostosis ?,"Diffuse idiopathic skeletal hyperostosis (DISH) is a form of degenerative arthritis in which the ligaments (connective tissues that connect bones) around the spine turn into bone. Many people with this condition do not experience any symptoms. When present, the most common features are pain and stiffness of the upper back; however, other symptoms may also develop when bone spurs press on nearby organs or parts of the body. The exact underlying cause of DISH remains unknown, although risk factors such as age, gender, long-term use of certain medications and chronic health conditions have been identified. Treatment for DISH depends on many factors including the signs and symptoms present in each person and the severity of the condition." +12237,Are there interactions between Papaya and herbs and supplements ?, +19842,How to diagnose Infant botulism ?, +21921,What are the treatments for Retinal detachment ?, +46977,What other information should I know about Riociguat ?, +17890,Do you have information about Heart bypass surgery - minimally invasive - discharge, +10626,What are the treatments for Factor XIII deficiency ?,"How might factor XIII be treated? The amount of Factor XIII necessary for a normal response to trauma is only about 10 percent of that in the normal plasma. People with Factor XIII deficiency are generally given small infusions of fresh or frozen blood plasma (cryoprecipitates), or Factor XIII concentrates every three or four weeks. This has proven to be a highly successful preventive treatment for the disorder. Patients typically have a normal response to trauma while on these transfusions. When patients with Factor XIII deficiency have a high incidence of bleeding inside the head (intracranial), preventive treatment is necessary. In February 2011, the US Food and Drug Administration approved Corifact, a product manufactured by CSL Behring of Marburg, Germany, to prevent bleeding in people with congenital Factor XIII deficiency. Corifact is made from the pooled plasma of healthy donors. It can be used for individuals with absent or decreased levels of FXIII. People receiving Corifact may develop antibodies against Factor XIII that may make the product ineffective. It potentially can cause adverse events from abnormal clotting if doses higher than the labeled dose are given to patients. Cryoprecipitate should not be used to treat patients with factor XIII deficiency except in life- and limb-threatening emergencies when Factor XIII concentrate is not immediately available." +10737,What is (are) Urachal cyst ?,"Urachal cyst is a sac-like pocket of tissue that develops in the urachus, a primitive structure that connects the umbilical cord to the bladder in the developing baby. Although it normally disappears prior to birth, part of the urachus may remain in some people. Urachal cysts can develop at any age, but typically affect older children and adults. Urachal cysts are often not associated with any signs or symptoms unless there are complications such as infection. In these cases, symptoms may include abdominal pain, fever, pain with urination and/or hematuria. Treatment typically includes surgery to drain the cyst and/or remove the urachus." +1440,What is (are) hereditary multiple osteochondromas ?,"Hereditary multiple osteochondromas is a condition in which people develop multiple benign (noncancerous) bone tumors called osteochondromas. The number of osteochondromas and the bones on which they are located vary greatly among affected individuals. The osteochondromas are not present at birth, but approximately 96 percent of affected people develop multiple osteochondromas by the time they are 12 years old. Osteochondromas typically form at the end of long bones and on flat bones such as the hip and shoulder blade. Once people with hereditary multiple osteochondromas reach adult height and their bones stop growing, the development of new osteochondromas also usually stops. Multiple osteochondromas can disrupt bone growth and can cause growth disturbances of the arms, hands, and legs, leading to short stature. Often these problems with bone growth do not affect the right and left limb equally, resulting in uneven limb lengths (limb length discrepancy). Bowing of the forearm or ankle and abnormal development of the hip joints (hip dysplasia) caused by osteochondromas can lead to difficulty walking and general discomfort. Multiple osteochondromas may also result in pain, limited range of joint movement, and pressure on nerves, blood vessels, the spinal cord, and tissues surrounding the osteochondromas. Osteochondromas are typically benign; however, in some instances these tumors become malignant (cancerous). Researchers estimate that people with hereditary multiple osteochondromas have a 1 in 20 to 1 in 200 lifetime risk of developing cancerous osteochondromas (called sarcomas)." +26026,Do you have information about Skin sagging treatment - underarms, +17814,What are the treatments for Amyotrophic lateral sclerosis ?, +18019,What to do for Foreign object - inhaled or swallowed ?, +3739,What are the treatments for sepiapterin reductase deficiency ?,These resources address the diagnosis or management of sepiapterin reductase deficiency: - Gene Review: Gene Review: Sepiapterin Reductase Deficiency - Genetic Testing Registry: Sepiapterin reductase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care +2476,How many people are affected by mucolipidosis II alpha/beta ?,"Mucolipidosis II alpha/beta is a rare disorder, although its exact prevalence is unknown. It is estimated to occur in about 1 in 100,000 to 400,000 individuals worldwide." +42384,What are the brand names of combination products of Folic Acid ?, +21649,Do you have information about Kegel exercises - self-care, +14010,What is (are) Child Abuse ?,"Child abuse is doing something or failing to do something that results in harm to a child or puts a child at risk of harm. Child abuse can be physical, sexual or emotional. Neglect, or not providing for a child's needs, is also a form of abuse. Most abused children suffer greater emotional than physical damage. An abused child may become depressed. He or she may withdraw, think of suicide or become violent. An older child may use drugs or alcohol, try to run away or abuse others. Child abuse is a serious problem. If you suspect a child is being abused or neglected, call the police or your local child welfare agency." +2061,How many people are affected by Duchenne and Becker muscular dystrophy ?,"Duchenne and Becker muscular dystrophies together affect 1 in 3,500 to 5,000 newborn males worldwide. Between 400 and 600 boys in the United States are born with these conditions each year." +26629,What are the treatments for Traumatic injury of the bladder and urethra ?, +1244,What are the treatments for actin-accumulation myopathy ?,These resources address the diagnosis or management of actin-accumulation myopathy: - Genetic Testing Registry: Nemaline myopathy 3 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care +26435,What causes Sickle cell anemia ?, +34239,What are the treatments for Kidney Failure: Choosing a Treatment That's Right for You ?,"You have three treatment options to choose from to filter your blood. A fourth option offers care without replacing the work of the kidneys. None of these treatments helps the kidneys get better. However, they all can help you feel better. + +- Hemodialysis uses a machine to move your blood through a filter outside your body, removing wastes. - Peritoneal dialysis uses the lining of your belly to filter your blood inside your body, removing wastes. - Kidney transplantation is surgery to place a healthy kidney from a person who has just died or a living person, usually a family member, into your body to take over the job of filtering your blood. - Conservative management is the choice not to treat kidney failure with dialysis or a transplant. Instead, the focus is on using medicines to keep you comfortable, preserving kidney function through diet, and treating the problems of kidney failure, such as anemiaa shortage of red blood cells that can make you tiredand weak bones." +14356,What is (are) Eating Disorders ?,"Eating disorders are serious behavior problems. They can include severe overeating or not consuming enough food to stay healthy. They also involve extreme concern about your shape or weight. Types of eating disorders include - Anorexia nervosa, in which you become too thin, but you don't eat enough because you think you are fat - Bulimia nervosa, which involves periods of overeating followed by purging, sometimes through self-induced vomiting or using laxatives - Binge-eating, which is out-of-control eating Women are more likely than men to have eating disorders. They usually start in the teenage years and often occur along with depression, anxiety disorders, and substance abuse. Eating disorders can lead to heart and kidney problems and even death. Getting help early is important. Treatment involves monitoring, talk therapy, nutritional counseling, and sometimes medicines. NIH: National Institute of Mental Health" +40779,What other information should I know about Teriparatide (rDNA origin) Injection ?, +42464,What are the side effects or risks of Ciclesonide Oral Inhalation ?, +25435,What are the complications of Brachial plexopathy ?, +39048,What special dietary instructions should I follow with Naltrexone Injection ?, +46672,What are the brand names of Haemophilus influenzae type b (Hib) Vaccine ?, +35908,What should I do if I forget a dose of Calcitriol Topical ?, +40840,Are there safety concerns or special precautions about Chlorpropamide ?, +28017,Do I need to see a doctor for Myotonia congenita ?, +29069,What are the treatments for Drug-induced immune hemolytic anemia ?, +35896,What to do in case of emergency or overdose of Irinotecan Injection ?, +34876,What to do in case of emergency or overdose of Ranolazine ?, +27443,What are the symptoms of Hypothalamic dysfunction ?, +40956,What are the side effects or risks of Lurasidone ?, +6039,Is Chromosome 4q deletion inherited ?,"How is chromosome 4q deletion inherited? Chromosome 4q deletion is usually not inherited. The deletion often occurs sporadically as a random event during the formation of the egg or sperm. In this case, a person would have no family history of the condition but could pass the deletion on to children. Rarely, this deletion is passed down from parent to child. However, the symptoms and severity can vary between family members." +32101,Do I need to see a doctor for Weight loss - unintentional ?, +4328,Is congenital dyserythropoietic anemia inherited ?,"The inheritance pattern of CDA depends on the type of the disorder. CDA types I and II are inherited in an autosomal recessive pattern, which means both copies of the associated gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. In several families, CDA type III appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. In these families, affected individuals often have a parent and other relatives with the condition." +37573,"What are the side effects or risks of Acetaminophen, Butalbital, and Caffeine ?", +27802,Do you have information about Antistreptolysin O titer, +7412,What are the symptoms of Optic atrophy 5 ?,"What are the signs and symptoms of Optic atrophy 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Optic atrophy 5. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Central scotoma - Optic atrophy - Slow decrease in visual acuity - Tritanomaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common." +9177,What are the symptoms of SAPHO syndrome ?,"What are the signs and symptoms of SAPHO syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for SAPHO syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Bone pain 90% Chest pain 90% Hyperostosis 90% Increased bone mineral density 90% Osteolysis 90% Abnormality of the sacroiliac joint 50% Acne 50% Arthritis 50% Osteomyelitis 50% Palmoplantar pustulosis 50% Psoriasis 50% Abdominal pain 7.5% Cranial nerve paralysis 7.5% Inflammation of the large intestine 7.5% Malabsorption 7.5% Recurrent fractures 7.5% Skin rash 7.5% Skin ulcer 7.5% Thrombophlebitis 7.5% Vasculitis 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common." +14962,What is (are) Warts ?,"Warts are growths on your skin caused by an infection with humanpapilloma virus, or HPV. Types of warts include - Common warts, which often appear on your fingers - Plantar warts, which show up on the soles of your feet - Genital warts, which are a sexually transmitted disease - Flat warts, which appear in places you shave frequently In children, warts often go away on their own. In adults, they tend to stay. If they hurt or bother you, or if they multiply, you can remove them. Chemical skin treatments usually work. If not, various freezing, surgical and laser treatments can remove warts." +32062,What is the outlook for Phencyclidine overdose ?, +2074,What are the treatments for hereditary sensory and autonomic neuropathy type V ?,These resources address the diagnosis or management of HSAN5: - Genetic Testing Registry: Congenital sensory neuropathy with selective loss of small myelinated fibers These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care +24096,What are the symptoms of Sydenham chorea ?, +12578,What is the action of Boron and how does it work ?, +24138,Do you have information about Dietary fats explained, +32873,What are the treatments for Protein-losing enteropathy ?, +33352,How to diagnose Parasites - Echinococcosis ?,"The presence of a cyst-like mass in a person with a history of exposure to sheepdogs in an area where E. granulosus is endemic suggests a diagnosis of cystic echinococcosis. Imaging techniques, such as CT scans, ultrasonography, and MRIs, are used to detect cysts. After a cyst has been detected, serologic tests may be used to confirm the diagnosis. + +Alveolar echinococcosis is typically found in older people. Imaging techniques such as CT scans are used to visually confirm the parasitic vesicles and cyst-like structures and serologic tests can confirm the parasitic infection." +30922,What are the treatments for Limb-girdle muscular dystrophies ?, +173,Is familial osteochondritis dissecans inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition." +45932,What are the side effects or risks of Zileuton ?, +1477,What are the genetic changes related to essential thrombocythemia ?,"The JAK2 and CALR genes are the most commonly mutated genes in essential thrombocythemia. The MPL, THPO, and TET2 genes can also be altered in this condition. The JAK2, MPL, and THPO genes provide instructions for making proteins that promote the growth and division (proliferation) of blood cells. The CALR gene provides instructions for making a protein with multiple functions, including ensuring the proper folding of newly formed proteins and maintaining the correct levels of stored calcium in cells. The TET2 gene provides instructions for making a protein whose function is unknown. The proteins produced from the JAK2, MPL, and THPO genes are part of a signaling pathway called the JAK/STAT pathway, which transmits chemical signals from outside the cell to the cell's nucleus. These proteins work together to turn on (activate) the JAK/STAT pathway, which promotes the proliferation of blood cells, particularly platelets and their precursor cells, megakaryocytes. Mutations in the JAK2, MPL, and THPO genes that are associated with essential thrombocythemia lead to overactivation of the JAK/STAT pathway. The abnormal activation of JAK/STAT signaling leads to overproduction of megakaryocytes, which results in an increased number of platelets. Excess platelets can cause thrombosis, which leads to many signs and symptoms of essential thrombocythemia. Although mutations in the CALR and TET2 genes have been found in people with essential thrombocythemia, it is unclear how these gene mutations are involved in development of the condition. Some people with essential thrombocythemia do not have a mutation in any of the known genes associated with this condition. Researchers are working to identify other genes that may be involved in the condition." +38786,What other information should I know about Estrogen Injection ?, +7842,What are the treatments for Chorea-acanthocytosis ?,"How is chorea-acanthocytosis treated? There are currently no treatments to prevent or slow the progression of chorea-acanthocytosis; treatment is symptomatic and supportive. Management may include: botulinum toxin for decreasing the oro-facio-lingual dystonia; feeding assistance; speech therapy; mechanical protective devices; splints for foot drop; phenytoin, clobazam, and valproate for seizure management; antidepressant or antipsychotic medications; dopamine antagonists such as atypical neuroleptics or tetrabenazine; and standard treatment for cardiomyopathy. Surveillance includes monitoring of nutritional status and adaptation of diet to assure adequate caloric intake, cardiac evaluations every five years, and EEG every third year." +33067,What is the outlook for Gastrointestinal bleeding ?, +40459,What special dietary instructions should I follow with Etanercept Injection ?, +22039,What is the outlook for Achilles tendon rupture - aftercare ?, +21593,Who is at risk for Craniosynostosis repair? ?, +13181,How to diagnose Childhood Central Nervous System Embryonal Tumors ?,"Tests that examine the brain and spinal cord are used to detect (find) childhood CNS embryonal tumors or pineoblastomas. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Neurological exam : A series of questions and tests to check the brain, spinal cord, and nerve function. The exam checks a patient's mental status, coordination, and ability to walk normally, and how well the muscles, senses, and reflexes work. This may also be called a neuro exam or a neurologic exam. - MRI (magnetic resonance imaging) of the brain and spinal cord with gadolinium : A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the brain and spinal cord. A substance called gadolinium is injected into a vein. The gadolinium collects around the cancer cells so they show up brighter in the picture. This procedure is also called nuclear magnetic resonance imaging (NMRI). Sometimes magnetic resonance spectroscopy (MRS) is done during the MRI scan to look at the chemicals in brain tissue. - Lumbar puncture : A procedure used to collect cerebrospinal fluid (CSF) from the spinal column. This is done by placing a needle between two bones in the spine and into the CSF around the spinal cord and removing a sample of the fluid. The sample of CSF is checked under a microscope for signs of tumor cells. The sample may also be checked for the amounts of protein and glucose. A higher than normal amount of protein or lower than normal amount of glucose may be a sign of a tumor. This procedure is also called an LP or spinal tap. + A biopsy may be done to be sure of the diagnosis of CNS embryonal tumor or pineoblastoma. If doctors think your child may have a CNS embryonal tumor or pineoblastoma, a biopsy may be done. For brain tumors, the biopsy is done by removing part of the skull and using a needle to remove a sample of tissue. Sometimes, a computer-guided needle is used to remove the tissue sample. A pathologist views the tissue under a microscope to look for cancer cells. If cancer cells are found, the doctor may remove as much tumor as safely possible during the same surgery. The piece of skull is usually put back in place after the procedure. The following test may be done on the sample of tissue that is removed: - Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test may be used to tell the difference between different types of brain tumors." +43066,What should I know about storage and disposal of Apixaban ?, +36487,How should Diclofenac Topical (actinic keratosis) be used and what is the dosage ?, +39843,What are the brand names of Natalizumab Injection ?, +45029,What are the brand names of Pentamidine Isethionate Injection ?, +6251,What is (are) Nemaline myopathy ?,"Nemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face, neck, and limbs. This weakness can worsen over time. Affected individuals may have feeding and swallowing difficulties, foot deformities, abnormal curvature of the spine (scoliosis), and joint deformities (contractures). Mutations in at least six genes can cause nemaline myopathy. Some individuals with nemaline myopathy do not have an identified mutation. The genetic cause of the disorder is unknown in these individuals. Nemaline myopathy is usually inherited in an autosomal recessive pattern. Less often, this condition is inherited in an autosomal dominant pattern. Nemaline myopathy is divided into six types. You can search for information about a particular type of nemaline myopathy from the GARD Home page. Enter the name of the condition in the GARD search box and then select the type from the drop down menu." +1208,Is Majeed syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene. Although carriers typically do not show signs and symptoms of the condition, some parents of children with Majeed syndrome have had an inflammatory skin disorder called psoriasis." +25746,Do I need to see a doctor for Multiple sclerosis ?, +40481,What should I do if I forget a dose of Dabrafenib ?, +18312,Do I need to see a doctor for Ruptured eardrum ?, +34627,What should I do if I forget a dose of Papaverine ?, +42924,How should Fidaxomicin be used and what is the dosage ?, +42274,What should I do if I forget a dose of Aminocaproic Acid ?, +20289,What are the complications of Acquired platelet function defect ?, +9393,What are the symptoms of Radius absent anogenital anomalies ?,"What are the signs and symptoms of Radius absent anogenital anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Radius absent anogenital anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the radius 90% Hydrocephalus 90% Oligohydramnios 90% Split hand 90% Displacement of the external urethral meatus 50% Urogenital fistula 50% Absent radius - Anal atresia - Penile hypospadias - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common." +44715,"Why get vaccinated with MMR Vaccine (Measles, Mumps, and Rubella) ?", +6160,What are the symptoms of Hereditary mucoepithelial dysplasia ?,"What are the signs and symptoms of Hereditary mucoepithelial dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary mucoepithelial dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cataract 90% Corneal dystrophy 90% Fine hair 90% Furrowed tongue 90% Gingival overgrowth 90% Hyperkeratosis 90% Tracheoesophageal fistula 90% Abnormality of female internal genitalia 50% Nystagmus 50% Photophobia 50% Pulmonary fibrosis 50% Hematuria 7.5% Chronic diarrhea 5% Melena 5% Nail dysplasia 5% Nail dystrophy 5% Recurrent pneumonia 5% Alopecia - Autosomal dominant inheritance - Blindness - Chronic monilial nail infection - Chronic mucocutaneous candidiasis - Coarse hair - Congenital onset - Cor pulmonale - Corneal neovascularization - Eosinophilia - Esotropia - Fibrocystic lung disease - Keratoconjunctivitis - Opacification of the corneal stroma - Pneumonia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common." +31538,What causes Scalded skin syndrome ?, +2264,What are the treatments for cytochrome c oxidase deficiency ?,"These resources address the diagnosis or management of cytochrome c oxidase deficiency: - Cincinnati Children's Hospital: Acute Liver Failure - Cincinnati Children's Hospital: Cardiomyopathies - Genetic Testing Registry: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency - Genetic Testing Registry: Cytochrome-c oxidase deficiency - The United Mitochondrial Disease Foundation: Treatments and Therapies These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care" +31857,What causes Loss of brain function - liver disease ?, +39700,What other information should I know about Eszopiclone ?, +21079,Do you have information about Peripherally inserted central catheter - dressing change, +17409,Do I need to see a doctor for Interstitial cystitis ?, +35461,What special dietary instructions should I follow with Phenylephrine ?, +45853,What are the side effects or risks of Pentoxifylline ?, +43015,What to do in case of emergency or overdose of Nitazoxanide ?, +30731,What are the complications of Sebaceous cyst ?, +18569,What is the outlook for Tennis elbow surgery ?, +36702,How should Moxifloxacin Ophthalmic be used and what is the dosage ?, +14672,What is (are) Enlarged Prostate (BPH) ?,"The prostate is a gland in men. It helps make semen, the fluid that contains sperm. The prostate surrounds the tube that carries urine out of the body. As men age, their prostate grows bigger. If it gets too large, it can cause problems. An enlarged prostate is also called benign prostatic hyperplasia (BPH). Most men will get BPH as they get older. Symptoms often start after age 50. BPH is not cancer, and it does not seem to increase your chance of getting prostate cancer. But the early symptoms are the same. Check with your doctor if you have - A frequent and urgent need to urinate, especially at night - Trouble starting a urine stream or making more than a dribble - A urine stream that is weak, slow, or stops and starts several times - The feeling that you still have to go, even just after urinating - Small amounts of blood in your urine Severe BPH can cause serious problems over time, such as urinary tract infections, and bladder or kidney damage. If it is found early, you are less likely to develop these problems. Tests for BPH include a digital rectal exam, blood and imaging tests, a urine flow study, and examination with a scope called a cystoscope. Treatments include watchful waiting, medicines, nonsurgical procedures, and surgery. NIH: National Institute of Diabetes and Digestive and Kidney Diseases" +11852,What is (are) Anencephaly ?,"Anencephaly is a defect in the closure of the neural tube during fetal development. The neural tube is a narrow channel that folds and closes between the 3rd and 4th weeks of pregnancy to form the brain and spinal cord of the embryo. Anencephaly occurs when the ""cephalic"" or head end of the neural tube fails to close, resulting in the absence of a major portion of the brain, skull, and scalp. Infants with this disorder are born without a forebrain (the front part of the brain) and a cerebrum (the thinking and coordinating part of the brain). The remaining brain tissue is often exposed--not covered by bone or skin. A baby born with anencephaly is usually blind, deaf, unconscious, and unable to feel pain. Although some individuals with anencephaly may be born with a rudimentary brain stem, the lack of a functioning cerebrum permanently rules out the possibility of ever gaining consciousness. Reflex actions such as breathing and responses to sound or touch may occur. + +The cause of anencephaly is unknown. Although it is thought that a mother's diet and vitamin intake may play a role, scientists believe that many other factors are also involved. + +Recent studies have shown that the addition of folic acid (vitamin B9) to the diet of women of childbearing age may significantly reduce the incidence of neural tube defects. Therefore it is recommended that all women of childbearing age consume 0.4 mg of folic acid daily." +309,What are the treatments for Pitt-Hopkins syndrome ?,These resources address the diagnosis or management of Pitt-Hopkins syndrome: - Gene Review: Gene Review: Pitt-Hopkins Syndrome - Genetic Testing Registry: Pitt-Hopkins syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care +15995,What are the complications of Mesenteric venous thrombosis ?, +6200,What is (are) Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids ?,"Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is an inflammatory disease of the central nervous system. The main symptoms of CLIPPERS include double vision, nystagmus, uncoordinated movement (ataxia) and facial numbness or tingling. This condition can be treated by suppressing the immune system with steroids." +42376,Are there safety concerns or special precautions about Folic Acid ?, +31601,What causes Allergic conjunctivitis ?, +35220,What should I do if I forget a dose of Perampanel ?, +23393,What are the treatments for Total anomalous pulmonary venous return ?, +29590,Where to find support for people with Sanfilippo syndrome ?, +18863,Do I need to see a doctor for Liver metastases ?, +13088,What are the treatments for Childhood Central Nervous System Atypical Teratoid/Rhabdoid Tumor ?,"Key Points + - There are different types of treatment for patients with central nervous system atypical teratoid/rhabdoid tumor. - Children with atypical teratoid/rhabdoid tumor should have their treatment planned by a team of health care providers who are experts in treating cancer in children. - Childhood brain tumors may cause signs or symptoms that begin before the cancer is diagnosed and continue for months or years. - Some cancer treatments cause side effects months or years after treatment has ended. - Four types of treatment are used: - Surgery - Chemotherapy - Radiation therapy - High-dose chemotherapy with stem cell transplant - New types of treatment are being tested in clinical trials. - Targeted therapy - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with central nervous system atypical teratoid/rhabdoid tumor. + Different types of treatment are available for patients with central nervous system atypical teratoid/rhabdoid tumor (AT/RT). Treatment for AT/RT is usually within a clinical trial. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. Clinical trials are taking place in many parts of the country. Information about ongoing clinical trials is available from the NCI website. Choosing the most appropriate cancer treatment is a decision that ideally involves the patient, family, and health care team. + + + Children with atypical teratoid/rhabdoid tumor should have their treatment planned by a team of health care providers who are experts in treating cancer in children. + Treatment will be overseen by a pediatric oncologist, a doctor who specializes in treating children with cancer. The pediatric oncologist works with other pediatric health care providers who are experts in treating children with central nervous system cancer and who specialize in certain areas of medicine. These may include the following specialists: - Pediatrician. - Pediatric neurosurgeon. - Radiation oncologist. - Neurologist. - Pediatric nurse specialist. - Rehabilitation specialist. - Psychologist. - Social worker. - Geneticist or genetic counselor. + + + Childhood brain tumors may cause signs or symptoms that begin before the cancer is diagnosed and continue for months or years. + Signs or symptoms caused by the tumor may begin before diagnosis. These signs or symptoms may continue for months or years. It is important to talk with your child's doctors about signs or symptoms caused by the tumor that may continue after treatment. + + + Some cancer treatments cause side effects months or years after treatment has ended. + Side effects from cancer treatment that begin during or after treatment and continue for months or years are called late effects. Late effects of cancer treatment may include the following: - Physical problems. - Changes in mood, feelings, thinking, learning, or memory. - Second cancers (new types of cancer). Some late effects may be treated or controlled. It is important to talk with your child's doctors about the effects cancer treatment can have on your child. (See the PDQ summary on Late Effects of Treatment for Childhood Cancer for more information). + + + Four types of treatment are used: + Surgery Surgery is used to diagnose and treat CNS atypical teratoid/rhabdoid tumor. See the General Information section of this summary. Even if the doctor removes all the cancer that can be seen at the time of the surgery, most patients will be given chemotherapy and possibly radiation therapy after surgery to kill any cancer cells that are left. Treatment given after the surgery, to lower the risk that the cancer will come back, is called adjuvant therapy. Chemotherapy Chemotherapy is a cancer treatment that uses drugs to stop the growth of cancer cells, either by killing the cells or by stopping them from dividing. - When chemotherapy is placed directly into the cerebrospinal fluid, an organ, or a body cavity such as the abdomen, the drugs mainly affect tumor cells in those areas (regional chemotherapy). Regular doses of anticancer drugs given by mouth or vein to treat brain and spinal cord tumors cannot cross the blood-brain barrier and reach the tumor. Anticancer drugs injected into the cerebrospinal fluid are able to reach the tumor. This is called intrathecal chemotherapy. - When chemotherapy is taken by mouth or injected into a vein or muscle, the drugs enter the bloodstream and can reach tumor cells throughout the body (systemic chemotherapy). High doses of some anticancer drugs given into a vein can cross the blood-brain barrier and reach the tumor. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type of tumor being treated and whether it has spread. External radiation therapy may be given to the brain and spinal cord. Because radiation therapy can affect growth and brain development in young children, especially children who are three years old or younger, the dose of radiation therapy may be lower than in older children. High-dose chemotherapy with stem cell transplant High-dose chemotherapy with stem cell transplant is a method of giving high doses of chemotherapy and replacing blood -forming cells destroyed by the cancer treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of the patient or a donor and are frozen and stored. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the bodys blood cells. + + + New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website. Targeted therapy Targeted therapy is a type of treatment that uses drugs or other substances to attack specific cancer cells. Targeted therapies usually cause less harm to normal cells than chemotherapy or radiation therapy do. Targeted therapy is being studied in the treatment of recurrent childhood central nervous system atypical teratoid/rhabdoid tumor. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your child's condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups. + + + Treatment Options for Newly Diagnosed Childhood CNS Atypical Teratoid/Rhabdoid Tumor + + + Key Points + - There is no standard treatment for patients with central nervous system atypical teratoid/rhabdoid tumor. - Combinations of treatments are used for patients with atypical teratoid/rhabdoid tumor. + + + There is no standard treatment for patients with central nervous system atypical teratoid/rhabdoid tumor. + + + + Combinations of treatments are used for patients with atypical teratoid/rhabdoid tumor. + Because atypical teratoid/rhabdoid tumor (AT/RT) is fast-growing, a combination of treatments is usually given. After surgery to remove the tumor, treatments for AT/RT may include combinations of the following: - Chemotherapy. - Radiation therapy. - High-dose chemotherapy with stem cell transplant. Clinical trials of new treatments should be considered for patients with newly diagnosed atypical teratoid/rhabdoid tumor." +7319,Is Inclusion body myopathy 2 inherited ?,"How is inclusion body myopathy 2 inherited? Inclusion body myopathy 2 is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition." +5013,Is Tay-Sachs disease inherited ?,"This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition." +36701,Who should get Moxifloxacin Ophthalmic and why is it prescribed ?, +41520,What important warning or information should I know about Chlorpromazine ?, +37974,What other information should I know about Baclofen Oral ?, +39860,What should I know about storage and disposal of Amiodarone ?, +16740,What are the treatments for Liver spots ?, +21706,How to prevent Juvenile idiopathic arthritis ?, +10227,What are the treatments for Congenital chloride diarrhea ?,"How might congenital chloride diarrhea be treated? There is no cure for the underlying condition, so treatment mainly focuses on the symptoms. Studies have shown that early diagnosis and aggressive salt replacement therapy (replacing sodium and chloride, the 2 things that make up salt) are associated with normal growth and development, in addition to reduced mortality rates. In individuals with this condition, the goal is for the oral intake of chloride, sodium, and potassium to be greater than the amount lost through the feces (i.e., there must be a positive gastrointestinal balance) so that losses in sweat can be replaced. Replacement therapy with NaCl (sodium chloride) and KCl (potassium chloride) has been shown to be effective in children. One study showed that a medication called omeprazole, a proton-pump inhibitor, reduces electrolyte losses in individuals and thus promotes a positive gastrointestinal balance. However, this treatment does not reduce the need for careful monitoring of dietary intake, electrolyte concentrations, and urinary chloride loss. Another study discussed how butyrate could be effective in treating the condition, and that it is easily administered, useful in preventing severe dehydration episodes, and may be a promising approach for a long-term treatment." +47364,What are the brand names of Sildenafil ?, +22805,What causes Urticaria pigmentosa ?, +38662,"What should I do if I forget a dose of Neomycin, Polymyxin, and Bacitracin Topical ?", +10320,What are the treatments for IBIDS syndrome ?,"What treatment is available for Tay syndrome? Treatments for Tay syndrome are symptomatic. There is no cure for ichthyosis, only treatments to help manage symptoms. The main treatment for ichthyosis is to hydrate (moisturize) the skin, hold in the moisture, and keep scale thickness to a minimum." +34669,Why get vaccinated with Polio Vaccine ?, +45669,How should Glatiramer Injection be used and what is the dosage ?, +32104,What causes Nummular eczema ?, +19884,Do I need to see a doctor for Pulmonary hypertension ?, +29058,Do I need to see a doctor for Parkinson disease ?, +42499,Who should get Telmisartan and why is it prescribed ?, +26046,What causes Granulomatosis with polyangiitis ?, +31582,Do you have information about Doctor of osteopathic medicine, +32164,How to diagnose Chalazion ?, +31686,What are the treatments for Amebic liver abscess ?, +16480,How to diagnose Parathyroid adenoma ?, +10354,What are the symptoms of Charcot-Marie-Tooth disease type 2B ?,"What are the signs and symptoms of Charcot-Marie-Tooth disease type 2B? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Areflexia - Autoamputation (feet) - Autosomal dominant inheritance - Axonal degeneration/regeneration - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Dystrophic toenail - Foot dorsiflexor weakness - Hammertoe - Hyporeflexia - Osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) - Peripheral axonal atrophy - Pes cavus - Pes planus - Steppage gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common." +7798,What are the symptoms of Spondylometaphyseal dysplasia Algerian type ?,"What are the signs and symptoms of Spondylometaphyseal dysplasia Algerian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia Algerian type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Genu valgum 90% Micromelia 90% Myopia 90% Anterior rib cupping - Autosomal dominant inheritance - Bowed humerus - Carpal bone hypoplasia - Coxa vara - Flared femoral metaphysis - Hypoplasia of proximal radius - Hypoplastic pelvis - Kyphoscoliosis - Lumbar hyperlordosis - Metaphyseal dysplasia - Platyspondyly - Severe short stature - Short sacroiliac notch - Short tubular bones (hand) - Spondylometaphyseal dysplasia - Tibial metaphyseal irregularity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common." +46376,What other information should I know about Calcipotriene Topical ?, +27479,What are the symptoms of Mitral valve regurgitation ?, +25104,How to diagnose Posterior fossa tumor ?, +17727,How to diagnose Ebstein anomaly ?, +40930,What are the brand names of combination products of Losartan and Hydrochlorothiazide ?, +11211,what research (or clinical trials) is being done for Wernicke-Korsakoff Syndrome ?,"The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS supports research on neurological disorders such as Wernicke's encephalopathy, Korsakoff's amnesic syndrome, and Wernicke-Korsakoff syndrome, to expand our understanding of the functional changes of the diseases and ways to treat them..One areas of research is studying how exercise can improve cognitive functioning based on modulation of certain nerve cells in a rodent model of amnesia produced by by thiamine deficiency. The National Institute of Alcohol Abuse and Alcoholism also supports research on these disorders." +43801,What other information should I know about Belladonna Alkaloid Combinations and Phenobarbital ?, +11118,What is the outlook for Central Pontine Myelinolysis ?,"The prognosis for myelinolysis varies. Some individuals die and others recover completely. Although the disorder was originally considered to have a mortality rate of 50 percent or more, improved imaging techniques and early diagnosis have led to a better prognosis for many people. Most individuals improve gradually, but still continue to have challenges with speech, walking, emotional ups and downs, and forgetfulness." +16600,What is (are) Abortion - medical ?, +7492,What are the symptoms of Chordoma ?,"What are the signs and symptoms of Chordoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Chordoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the head - Abnormality of the vertebral column - Autosomal dominant inheritance - Chordoma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common." +912,What are the genetic changes related to paroxysmal extreme pain disorder ?,"Mutations in the SCN9A gene cause paroxysmal extreme pain disorder. The SCN9A gene provides instructions for making one part (the alpha subunit) of a sodium channel called NaV1.7. Sodium channels transport positively charged sodium atoms (sodium ions) into cells and play a key role in a cell's ability to generate and transmit electrical signals. NaV1.7 sodium channels are found in nerve cells called nociceptors that transmit pain signals to the spinal cord and brain. The SCN9A gene mutations that cause paroxysmal extreme pain disorder result in NaV1.7 sodium channels that do not close completely when it is turned off, allowing sodium ions to flow abnormally into nociceptors. This increase in sodium ions enhances transmission of pain signals, leading to the pain attacks experienced by people with paroxysmal extreme pain disorder. It is unknown why the pain attacks associated with this condition change location over time or what causes the other features of this condition such as seizures and changes in breathing." +21953,What are the complications of Acoustic neuroma ?, +38170,What are the side effects or risks of Avanafil ?, +10236,What are the symptoms of Wildervanck syndrome ?,"What are the signs and symptoms of Wildervanck syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wildervanck syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Sensorineural hearing impairment 90% Short neck 90% Vertebral segmentation defect 90% Ectopia lentis 7.5% Facial asymmetry 7.5% Facial palsy 7.5% Low posterior hairline 7.5% Meningocele 7.5% Optic atrophy 7.5% Webbed neck 7.5% Abnormality of the outer ear - Fused cervical vertebrae - Hearing impairment - Preauricular skin tag - Pseudopapilledema - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common." +39175,What special dietary instructions should I follow with Clonazepam ?, +30904,What are the complications of Undescended testicle ?, +2330,What is (are) Beckwith-Wiedemann syndrome ?,"Beckwith-Wiedemann syndrome is a condition that affects many parts of the body. It is classified as an overgrowth syndrome, which means that affected infants are considerably larger than normal (macrosomia) and tend to be taller than their peers during childhood. Growth begins to slow by about age 8, and adults with this condition are not unusually tall. In some children with Beckwith-Wiedemann syndrome, specific parts of the body on one side or the other may grow abnormally large, leading to an asymmetric or uneven appearance. This unusual growth pattern, which is known as hemihyperplasia, usually becomes less apparent over time. The signs and symptoms of Beckwith-Wiedemann syndrome vary among affected individuals. Some children with this condition are born with an opening in the wall of the abdomen (an omphalocele) that allows the abdominal organs to protrude through the belly-button. Other abdominal wall defects, such as a soft out-pouching around the belly-button (an umbilical hernia), are also common. Some infants with Beckwith-Wiedemann syndrome have an abnormally large tongue (macroglossia), which may interfere with breathing, swallowing, and speaking. Other major features of this condition include abnormally large abdominal organs (visceromegaly), creases or pits in the skin near the ears, low blood sugar (hypoglycemia) in infancy, and kidney abnormalities. Children with Beckwith-Wiedemann syndrome are at an increased risk of developing several types of cancerous and noncancerous tumors, particularly a form of kidney cancer called Wilms tumor and a form of liver cancer called hepatoblastoma. Tumors develop in about 10 percent of people with this condition and almost always appear in childhood. Most children and adults with Beckwith-Wiedemann syndrome do not have serious medical problems associated with the condition. Their life expectancy is usually normal." +2712,What are the genetic changes related to factor V deficiency ?,"Factor V deficiency is usually caused by mutations in the F5 gene, which provides instructions for making a protein called coagulation factor V. This protein plays a critical role in the coagulation system, which is a series of chemical reactions that forms blood clots in response to injury. F5 gene mutations that cause factor V deficiency prevent the production of functional coagulation factor V or severely reduce the amount of the protein in the bloodstream. People with this condition typically have less than 10 percent of normal levels of coagulation factor V in their blood; the most severely affected individuals have less than 1 percent. A reduced amount of functional coagulation factor V prevents blood from clotting normally, causing episodes of abnormal bleeding that can be severe. Very rarely, a form of factor V deficiency is caused by abnormal antibodies that recognize coagulation factor V. Antibodies normally attach (bind) to specific foreign particles and germs, marking them for destruction, but the antibodies in this form of factor V deficiency attack a normal human protein, leading to its inactivation. These cases are called acquired factor V deficiency and usually occur in individuals who have been treated with substances that stimulate the production of anti-factor V antibodies, such as bovine thrombin used during surgical procedures. There is no known genetic cause for this form of the condition." +19125,What are the symptoms of Aarskog syndrome ?, +33842,How to diagnose Inguinal Hernia ?,"A health care provider diagnoses an inguinal hernia with + +- a medical and family history - a physical exam - imaging tests, including x rays + +Medical and family history. Taking a medical and family history may help a health care provider diagnose an inguinal hernia. Often the symptoms that the patient describes will be signs of an inguinal hernia. + +Physical exam. A physical exam may help diagnose an inguinal hernia. During a physical exam, a health care provider usually examines the patients body. The health care provider may ask the patient to stand and cough or strain so the health care provider can feel for a bulge caused by the hernia as it moves into the groin or scrotum. The health care provider may gently try to massage the hernia back into its proper position in the abdomen. + +Imaging tests. A health care provider does not usually use imaging tests, including x rays, to diagnose an inguinal hernia unless he or she + +- is trying to diagnose a strangulation or an incarceration - cannot feel the inguinal hernia during a physical exam, especially in patients who are overweight - is uncertain if the hernia or another condition is causing the swelling in the groin or other symptoms + +Specially trained technicians perform imaging tests at a health care providers office, an outpatient center, or a hospital. + +A radiologista doctor who specializes in medical imaginginterprets the images. A patient does not usually need anesthesia. + +Tests may include the following: + +- Abdominal x ray. An x ray is a picture recorded on film or on a computer using a small amount of radiation. The patient will lie on a table or stand during the x ray. The technician positions the x-ray machine over the abdominal area. The patient will hold his or her breath as the technician takes the picture so that the picture will not be blurry. The technician may ask the patient to change position for additional pictures. - Computerized tomography (CT) scan. CT scans use a combination of x rays and computer technology to create images. For a CT scan, the technician may give the patient a solution to drink and an injection of a special dye, called contrast medium. A health care provider injects the contrast medium into a vein, and the injection will make the patient feel warm all over for a minute or two. The contrast medium allows the health care provider to see the blood vessels and blood flow on the x rays. CT scans require the patient to lie on a table that slides into a tunnel-shaped device where the technician takes the x rays. A health care provider may give children a sedative to help them fall asleep for the test. - Abdominal ultrasound. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure." +15599,What are the treatments for Breast Cancer ?,"Standard treatments for breast cancer include - surgery that takes out the cancer and some surrounding tissue - radiation therapy that uses high-energy beams to kill cancer cells and shrink tumors and some surrounding tissue. - chemotherapy that uses anti-cancer drugs to kill cancer most cells - hormone therapy that keeps cancer cells from getting most of the hormones they need to survive and grow. surgery that takes out the cancer and some surrounding tissue radiation therapy that uses high-energy beams to kill cancer cells and shrink tumors and some surrounding tissue. chemotherapy that uses anti-cancer drugs to kill cancer most cells hormone therapy that keeps cancer cells from getting most of the hormones they need to survive and grow. (Watch the video to learn about one breast cancer survivor's story. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.)" +11343,What are the treatments for Dandy-Walker Syndrome ?,"Treatment for individuals with Dandy-Walker Syndrome generally consists of treating the associated problems, if needed. A surgical procedure called a shunt may be required to drain off excess fluid within the brain, which will reduce pressure inside the skull and improve symptoms. Treatment may also include various forms of therapy (physicial, occupational) and specialized education." +44261,Who should get Alendronate and why is it prescribed ?, +23989,What are the treatments for Goiter - simple ?, +27202,Do I need to see a doctor for Bladder stones ?, +46313,What special dietary instructions should I follow with Insulin Aspart (rDNA Origin) Injection ?, +44031,"How should Corticotropin, Repository Injection be used and what is the dosage ?", +25401,How to prevent Low white blood cell count and cancer ?, +16420,What are the symptoms of Necrotizing vasculitis ?, +7443,What is (are) Sneddon syndrome ?,"Sneddon syndrome is a progressive condition characterized by livedo reticularis (bluish net-like patterns of discoloration on the skin) and neurological abnormalities. Symptoms may include headache, dizziness, high blood pressure, heart disease, mini-strokes and/or stroke. Reduced blood flow to the brain may cause lesions to develop within the central nervous system. This can lead to reduced mental capacity, memory loss and other neurological symptoms. The exact cause of Sneddon syndrome is unknown. Some familial cases have been described. It has also been associated with obliterating vasculitis and antiphospholipid antibody syndrome." +12799,what research (or clinical trials) is being done for Osteosarcoma and Malignant Fibrous Histiocytoma of Bone ?,"New types of treatment are being tested in clinical trials. + This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about ongoing clinical trials is available from the NCI website. Targeted therapy Targeted therapy is a treatment that uses drugs or other substances to find and attack specific cancer cells without harming normal cells. Kinase inhibitor therapy and monoclonal antibody therapy are types of targeted therapy being studied in clinical trials for osteosarcoma. Kinase inhibitor therapy blocks a protein needed for cancer cells to divide. Sorafenib is a type of kinase inhibitor therapy being studied for the treatment of recurrent osteosarcoma. Monoclonal antibody therapy is a cancer treatment that uses antibodies made in the laboratory, from a single type of immune system cell. These antibodies can identify substances on cancer cells or normal substances that may help cancer cells grow. The antibodies attach to the substances and kill the cancer cells, block their growth, or keep them from spreading. Monoclonal antibodies are given by infusion. They may be used alone or to carry drugs, toxins, or radioactive material directly to cancer cells. Denosumab, dinutuximab, and glembatumumab are monoclonal antibodies being studied for the treatment of recurrent osteosarcoma. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your child's condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups." +7179,What are the treatments for Lemierre syndrome ?,"How is Lemierre syndrome treated? Most cases of internal jugular thrombophlebitis can be managed medically without the need for surgery of the infected vein. Prolonged courses of intravenous antibiotics (3 to 6 weeks) is usually required. Anticoagulants have sometimes been used, but efficacy is unconfirmed. Surgery of the internal jugular vein may be required only in the rare patient who fails to respond to antibiotic treatment alone." +29515,What is (are) How to prevent frostbite and hypothermia ?, +12627,Are there safety concerns or special precautions about Deer Velvet ?, +42660,What other information should I know about Nicotine Transdermal Patch ?, +9191,What are the treatments for Fetal and neonatal alloimmune thrombocytopenia ?,"How might fetal and neonatal alloimmune thrombocytopenia (NAIT) be treated? NAIT is often unexpected and is usually diagnosed after birth. Once suspected, the diagnosis is confirmed by demonstration of maternal anti-platelet antibodies directed against a paternal antigen inherited by the baby. Management in the newborn period involves transfusion of platelets that do not contain the specific antigens. Prompt diagnosis and treatment are essential to reduce the chances of death and disability due to severe bleeding." +9137,What is (are) Weaver syndrome ?,"Weaver syndrome is a rare condition that is characterized primarily by tall stature. Other signs and symptoms of the condition may include macrocephaly (unusually large head size); intellectual disability; distinctive facial features; camptodactyly (permanently bent digits) of the fingers and/or toes; poor coordination; soft and doughy skin; umbilical hernia; abnormal muscle tone; and a hoarse, low-pitched cry during infancy. Some studies also suggest that people affected by Weaver syndrome may have an increased risk of developing neuroblastoma. Weaver syndrome is usually caused by changes (mutations) in the EZH2 gene. Although the condition is considered autosomal dominant, most cases occur as de novo mutations in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person." +2309,What are the treatments for Nakajo-Nishimura syndrome ?,These resources address the diagnosis or management of Nakajo-Nishimura syndrome: - Genetic Testing Registry: Nakajo syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care +13701,What are the treatments for Polycythemia Vera ?,"Polycythemia vera (PV) doesn't have a cure. However, treatments can help control the disease and its complications. PV is treated with procedures, medicines, and other methods. You may need one or more treatments to manage the disease. + +Goals of Treatment + +The goals of treating PV are to control symptoms and reduce the risk of complications, especially heart attack and stroke. To do this, PV treatments reduce the number of red blood cells and the level of hemoglobin (an iron-rich protein) in the blood. This brings the thickness of your blood closer to normal. + +Blood with normal thickness flows better through the blood vessels. This reduces the chance that blood clots will form and cause a heart attack or stroke. + +Blood with normal thickness also ensures that your body gets enough oxygen. This can help reduce some of the signs and symptoms of PV, such as headaches, vision problems, and itching. + +Studies show that treating PV greatly improves your chances of living longer. + +The goal of treating secondary polycythemia is to control its underlying cause, if possible. For example, if the cause is carbon monoxide exposure, the goal is to find the source of the carbon monoxide and fix or remove it. + +Treatments To Lower Red Blood Cell Levels + +Phlebotomy + +Phlebotomy (fle-BOT-o-me) is a procedure that removes some blood from your body. For this procedure, a needle is inserted into one of your veins. Blood from the vein flows through an airtight tube into a sterile container or bag. The process is similar to the process of donating blood. + +Phlebotomy reduces your red blood cell count and starts to bring your blood thickness closer to normal. + +Typically, a pint (1 unit) of blood is removed each week until your hematocrit level approaches normal. (Hematocrit is the measure of how much space red blood cells take up in your blood.) + +You may need to have phlebotomy done every few months. + +Medicines + +Your doctor may prescribe medicines to keep your bone marrow from making too many red blood cells. Examples of these medicines include hydroxyurea and interferon-alpha. + +Hydroxyurea is a medicine generally used to treat cancer. This medicine can reduce the number of red blood cells and platelets in your blood. As a result, this medicine helps improve your blood flow and bring the thickness of your blood closer to normal. + +Interferon-alpha is a substance that your body normally makes. It also can be used to treat PV. Interferon-alpha can prompt your immune system to fight overactive bone marrow cells. This helps lower your red blood cell count and keep your blood flow and blood thickness closer to normal. + +Radiation Treatment + +Radiation treatment can help suppress overactive bone marrow cells. This helps lower your red blood cell count and keep your blood flow and blood thickness closer to normal. + +However, radiation treatment can raise your risk of leukemia (blood cancer) and other blood diseases. + +Treatments for Symptoms + +Aspirin can relieve bone pain and burning feelings in your hands or feet that you may have as a result of PV. Aspirin also thins your blood, so it reduces the risk of blood clots. + +Aspirin can have side effects, including bleeding in the stomach and intestines. For this reason, take aspirin only as your doctor recommends. + +If your PV causes itching, your doctor may prescribe medicines to ease the discomfort. Your doctor also may prescribe ultraviolet light treatment to help relieve your itching. + +Other ways to reduce itching include: + +Avoiding hot baths. Cooler water can limit irritation to your skin. + +Gently patting yourself dry after bathing. Vigorous rubbing with a towel can irritate your skin. + +Taking starch baths. Add half a box of starch to a tub of lukewarm water. This can help soothe your skin. + +Experimental Treatments + +Researchers are studying other treatments for PV. An experimental treatment for itching involves taking low doses of selective serotonin reuptake inhibitors (SSRIs). This type of medicine is used to treat depression. In clinical trials, SSRIs reduced itching in people who had PV. + +Imatinib mesylate is a medicine that's approved for treating leukemia. In clinical trials, this medicine helped reduce the need for phlebotomy in people who had PV. This medicine also helped reduce the size of enlarged spleens. + +Researchers also are trying to find a treatment that can block or limit the effects of an abnormal JAK2 gene. (A mutation, or change, in the JAK2 gene is the major cause of PV.)" +34514,What is (are) What I need to know about Kidney Failure and How Its Treated ?,"You have two kidneys. The kidneys are shaped like beans. Each kidney is about the size of a fist. They are located just below your ribcage, one on each side of your spine. Your kidneys filter your blood. Each kidney is made of 1 million little filters. During every minute of every day, these filters take out waste materials that can hurt you. They also take out extra fluid from your blood. The wastes and extra fluid make urine. The urine flows from your kidneys to your bladder through tubes called ureters.The bladder stores urine until you urinate. Then, urine leaves the body through a tube called the urethra. + +*See the Pronunciation Guide for tips on how to say the the words in bold type." +3644,What are the treatments for infantile-onset spinocerebellar ataxia ?,These resources address the diagnosis or management of IOSCA: - Gene Review: Gene Review: Infantile-Onset Spinocerebellar Ataxia - Genetic Testing Registry: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care +33696,How many people are affected by Urinary Retention ?,"Urinary retention in men becomes more common with age. + +- In men 40 to 83 years old, the overall incidence of urinary retention is 4.5 to 6.8 per 1,000 men.2 - For men in their 70s, the overall incidence increases to 100 per 1,000 men.2 - For men in their 80s, the incidence of acute urinary retention is 300 per 1,000 men.2 + +Urinary retention in women is less common, though not rare.3 The incidence of urinary retention in women has not been well studied because researchers have primarily thought of urinary retention as a mans problem related to the prostate.4" +28259,What causes Marine animal stings or bites ?, +7043,What is (are) Hereditary sensory neuropathy type 1 ?,"Hereditary sensory neuropathy type 1 (HSN1) is a neurological condition characterized by nerve abnormalities in the legs and feet. Many people with this condition have tingling, weakness, and a reduced ability to feel pain and sense hot and cold. Some affected people do not lose sensation, but instead feel shooting pains in their legs and feet. As HSN1 progresses, sensory problems can affect the hands, arms, shoulders, and abdomen. In rare cases, people with this condition develop sensorineural hearing loss. Symptoms of HSN1 typically begin during a person's teens or twenties and worsen over time. HSN1 is caused by mutations in any of several genes, depending on the form of HSN1 (HSN1A is caused by mutations in the SPTLC1 gene; HSN1B is linked to a gene located in chromosome 3; HSN1C is caused by mutations in the SPTLC2 gene; HSN1D is caused by mutations in the ATL1 gene and HSN1E is caused by mutations in DNMT1 gene. All forms of HSN1 are inherited in an autosomal dominant manner. If symptoms are treated properly, the condition does not appear to affect life expectancy." +17168,What causes Parathyroid cancer ?, +8092,How to diagnose Proximal symphalangism ?,"Is genetic testing available for Cushing's symphalangism? GeneTests lists the names of laboratories that are performing genetic testing for Cushing's symphalangism. To view the contact information for the clinical laboratories conducting testing, click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. Below, we provide a list of online resources that can assist you in locating a genetics professional near you." +13807,How to diagnose Hemophilia ?,"If you or your child appears to have a bleeding problem, your doctor will ask about your personal and family medical histories. This will reveal whether you or your family members, including women and girls, have bleeding problems. However, some people who have hemophilia have no recent family history of the disease. + +You or your child also will likely have a physical exam and blood tests to diagnose hemophilia. Blood tests are used to find out: + +How long it takes for your blood to clot + +Whether your blood has low levels of any clotting factors + +Whether any clotting factors are completely missing from your blood + +The test results will show whether you have hemophilia, what type of hemophilia you have, and how severe it is. + +Hemophilia A and B are classified as mild, moderate, or severe, depending on the amount of clotting factor VIII or IX in the blood. + +The severity of symptoms can overlap between the categories. For example, some people who have mild hemophilia may have bleeding problems almost as often or as severe as some people who have moderate hemophilia. + +Severe hemophilia can cause serious bleeding problems in babies. Thus, children who have severe hemophilia usually are diagnosed during the first year of life. People who have milder forms of hemophilia may not be diagnosed until they're adults. + +The bleeding problems of hemophilia A and hemophilia B are the same. Only special blood tests can tell which type of the disorder you or your child has. Knowing which type is important because the treatments are different. + +Pregnant women who are known hemophilia carriers can have the disorder diagnosed in their unborn babies as early as 12 weeks into their pregnancies. + +Women who are hemophilia carriers also can have ""preimplantation diagnosis"" to have children who don't have hemophilia. + +For this process, women have their eggs removed and fertilized by sperm in a laboratory. The embryos are then tested for hemophilia. Only embryos without the disorder are implanted in the womb." +28576,What are the complications of Mucormycosis ?, +44358,How should Bleomycin be used and what is the dosage ?, +39935,Who should get Sulindac and why is it prescribed ?, +11446,What is (are) Dysgraphia ?,"Dysgraphia is a neurological disorder characterized by writing disabilities. Specifically, the disorder causes a person's writing to be distorted or incorrect. In children, the disorder generally emerges when they are first introduced to writing. They make inappropriately sized and spaced letters, or write wrong or misspelled words, despite thorough instruction. Children with the disorder may have other learning disabilities; however, they usually have no social or other academic problems. Cases of dysgraphia in adults generally occur after some trauma. In addition to poor handwriting, dysgraphia is characterized by wrong or odd spelling, and production of words that are not correct (i.e., using ""boy"" for ""child""). The cause of the disorder is unknown, but in adults, it is usually associated with damage to the parietal lobe of the brain." +38140,What special dietary instructions should I follow with Decitabine Injection ?, +41216,What important warning or information should I know about Estradiol Topical ?, +9987,What are the treatments for Logopenic progressive aphasia ?,"How might logopenic progressive aphasia be treated? Although no medications or interventions have demonstrated long-term stabilization of logopenic progressive aphasia (LPA), different treatment methods have shown promising short-term benefits. Studies utilizing language therapy and behavioral interventions have shown encouraging results. Neuromodulation through methodologies such as Transcranial Direct Current Stimulation (tDCS) and transcranial magnetic stimulation (rTMS) have additionally been identified as a promising therapies to potentially use in combination with behavioral treatment and language therapy. As the most common underlying pathology of LPA is Alzheimer's disease (AD) pathology, limited research has been completed on interventions shown to reduce the rate of decline in cognitive symptoms in AD. So far cholinesterase inhibitors and memantine, medications used in Alzheimers disease, have not been proven effective in treating logopenic progressive aphasia. Case studies involving steriod use and Omentum Transposition Therapy have reported improvement; however, the results have not been replicated in other cases and as with other treatment options, long-term studies are lacking. The National Aphasia Association provides further information on the medical management of primary progressive aphasias at the following link: http://live-naa.pantheon.io/wp-content/uploads/2014/12/Managing-PPA.pdf" +23157,What are the complications of Severe acute respiratory syndrome (SARS) ?, +2549,What are the treatments for hypochondroplasia ?,These resources address the diagnosis or management of hypochondroplasia: - Gene Review: Gene Review: Hypochondroplasia - Genetic Testing Registry: Hypochondroplasia - MedlinePlus Encyclopedia: Lordosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care +17894,What is (are) Gastroesophageal reflux - discharge ?, +39822,What to do in case of emergency or overdose of Nelarabine Injection ?, +24692,What are the symptoms of Eosinophilic fasciitis ?, +25024,How to prevent Bilirubin encephalopathy ?, +22529,What are the symptoms of Retinoblastoma ?, +30279,What to do for Nasal flaring ?, +36749,Who should get Megestrol and why is it prescribed ?, +39432,What to do in case of emergency or overdose of Norethindrone ?, +44259,What other information should I know about Memantine ?, +26855,What is the outlook for Osgood-Schlatter disease ?,