sample,question,answer 7424,What is (are) Singleton Merten syndrome ?,"Singleton Merten syndrome is an extremely rare, multisystem disorder. The major characteristics are tooth abnormalities (dental dysplasia); calcifications in the aorta and certain valves of the heart (i.e., aortic and mitral valves); and progressive thinning and loss of protein of the bones (osteoporosis), especially the upper and back portions of the skull. Other physical findings may include generalized muscle weakness; progressive muscle atrophy; growth delay; delays in motor development; skin conditions; and/or malformation of the hips and/or feet. It appears to occur sporadically (in individuals with no history of the condition in their family) but in some cases, autosomal dominant inheritance has been suggested. Treatment is typically directed toward the specific symptoms that are present in each individual." 15794,What are the symptoms of Prevent diabetes problems: Keep your heart and blood vessels healthy ?,"A stroke happens when part of your brain is not getting enough blood and stops working. Depending on the part of the brain that is damaged, a stroke can cause - sudden weakness or numbness of your face, arm, or leg on one side of your body - sudden confusion, trouble talking, or trouble understanding - sudden dizziness, loss of balance, or trouble walking - sudden trouble seeing in one or both eyes or sudden double vision - sudden severe headache Sometimes, one or more of these warning signs may happen and then disappear. You might be having a ""mini-stroke,"" also called a TIA or a transient ischemic attack. If you have any of these warning signs, call 911 right away. Getting care for a TIA may reduce or prevent a stroke. Getting prompt treatment for a stroke can reduce the damage to the brain and improve chances for recovery." 2400,What is (are) familial acute myeloid leukemia with mutated CEBPA ?,"Familial acute myeloid leukemia with mutated CEBPA is one form of a cancer of the blood-forming tissue (bone marrow) called acute myeloid leukemia. In normal bone marrow, early blood cells called hematopoietic stem cells develop into several types of blood cells: white blood cells (leukocytes) that protect the body from infection, red blood cells (erythrocytes) that carry oxygen, and platelets (thrombocytes) that are involved in blood clotting. In acute myeloid leukemia, the bone marrow makes large numbers of abnormal, immature white blood cells called myeloid blasts. Instead of developing into normal white blood cells, the myeloid blasts develop into cancerous leukemia cells. The large number of abnormal cells in the bone marrow interferes with the production of functional white blood cells, red blood cells, and platelets. People with familial acute myeloid leukemia with mutated CEBPA have a shortage of white blood cells (leukopenia), leading to increased susceptibility to infections. A low number of red blood cells (anemia) also occurs in this disorder, resulting in fatigue and weakness. Affected individuals also have a reduction in the amount of platelets (thrombocytopenia), which can result in easy bruising and abnormal bleeding. Other symptoms of familial acute myeloid leukemia with mutated CEBPA may include fever and weight loss. While acute myeloid leukemia is generally a disease of older adults, familial acute myeloid leukemia with mutated CEBPA often begins earlier in life, and it has been reported to occur as early as age 4. Between 50 and 65 percent of affected individuals survive their disease, compared with 25 to 40 percent of those with other forms of acute myeloid leukemia. However, people with familial acute myeloid leukemia with mutated CEBPA have a higher risk of having a new primary occurrence of this disorder after successful treatment of the initial occurrence." 2554,What are the treatments for cystinuria ?,These resources address the diagnosis or management of cystinuria: - Genetic Testing Registry: Cystinuria - MedlinePlus Encyclopedia: Cystinuria - MedlinePlus Encyclopedia: Cystinuria (image) 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 7546,What are the symptoms of Weyers acrofacial dysostosis ?,"What are the signs and symptoms of Weyers acrofacial dysostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Weyers acrofacial dysostosis. 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 morphology 90% Abnormality of the fingernails 90% Advanced eruption of teeth 90% Hypoplastic toenails 90% Postaxial hand polydactyly 90% Reduced number of teeth 90% Short stature 90% Abnormality of the antihelix 50% Clinodactyly of the 5th finger 50% Facial cleft 50% Short palm 50% Autosomal dominant inheritance - Brachydactyly syndrome - Conical tooth - Hypotelorism - Mild short stature - Nail dysplasia - Postaxial foot polydactyly - Prominent antihelix - Small nail - 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." 14833,What is (are) High Blood Cholesterol ?,"LDL stands for low-density lipoproteins. (Lipoproteins are molecules that carry cholesterol through your bloodstream.) LDL cholesterol is sometimes called bad cholesterol because it can build up in the walls of your arteries and make them narrower. This buildup of cholesterol is called plaque. Over time, plaque can build up so much that it narrows your arteries. This is called atherosclerosis or hardening of the arteries. The higher the level of LDL cholesterol in your blood, the greater your chances of getting heart disease." 15709,What to do for Anemia in Chronic Kidney Disease ?,"A health care provider may advise people with kidney disease who have anemia caused by iron, vitamin B12, or folic acid deficiencies to include sources of these nutrients in their diets. Some of these foods are high in sodium or phosphorus, which people with CKD should limit in their diet. Before making any dietary changes, people with CKD should talk with their health care provider or with a dietitian who specializes in helping people with kidney disease. A dietitian can help a person plan healthy meals. Read more about nutrition for people with CKD on the National Kidney Disease Education Program website. The following chart illustrates some good dietary sources of iron, vitamin B12, and folic acid. Food Serving Size Iron Vitamin B12 Folic Acid Recommended Daily Value 18 mg 6 mcg 400 mcg 100 percent fortified breakfast cereal cup (1 oz) 18 mg 6 mcg 394 mcg beans, baked 1 cup (8 oz) 8 mg 0 mcg 37 mcg beef, ground 3 oz 2 mg 2 mcg 8 mcg beef liver 3 oz 5 mg 67 mcg 211 mcg clams, fried 4 oz 3 mg 1 mcg 66 mcg spinach, boiled 1 cup (3 oz) 2 mg 0 mcg 115 mcg spinach, fresh 1 cup (1 oz) 1 mg 0 mcg 58 mcg trout 3 oz 0 mg 5 mcg 16 mcg tuna, canned 3 oz 1 mg 1 mcg 2 mcg" 972,What are the genetic changes related to Lafora progressive myoclonus epilepsy ?,"Lafora progressive myoclonus epilepsy can be caused by mutations in either the EPM2A gene or the NHLRC1 gene. These genes provide instructions for making proteins called laforin and malin, respectively. Laforin and malin play a critical role in the survival of nerve cells (neurons) in the brain. Studies suggest that laforin and malin work together and may have several functions. One of these is to help regulate the production of a complex sugar called glycogen, which is a major source of stored energy in the body. The body stores this sugar in the liver and muscles, breaking it down when it is needed for fuel. Laforin and malin may prevent a potentially damaging buildup of glycogen in tissues that do not normally store this molecule, such as those of the nervous system. Researchers have discovered that people with Lafora progressive myoclonus epilepsy have distinctive clumps called Lafora bodies within their cells. Lafora bodies are made up of an abnormal form of glycogen that cannot be broken down and used for fuel. Instead, it builds up to form clumps that can damage cells. Neurons appear to be particularly vulnerable to this type of damage. Although Lafora bodies are found in many of the body's tissues, the signs and symptoms of Lafora progressive myoclonus epilepsy are limited to the nervous system. Mutations in the EPM2A gene prevent cells from making functional laforin, while NHLRC1 gene mutations prevent the production of functional malin. It is unclear how a loss of either of these proteins leads to the formation of Lafora bodies. However, a loss of laforin or malin ultimately results in the death of neurons, which interferes with the brain's normal functions. The condition tends to progress more slowly in some people with NHLRC1 gene mutations than in those with EPM2A gene mutations. Mutations in the EPM2A and NHLRC1 genes account for 80 percent to 90 percent of all cases of Lafora progressive myoclonus epilepsy. In the remaining cases, the cause of the condition is unknown. Researchers are searching for other genetic changes that may underlie this disease." 10363,What are the symptoms of Preauricular sinus ?,"What are the signs and symptoms of Preauricular sinus? The Human Phenotype Ontology provides the following list of signs and symptoms for Preauricular sinus. 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 - Preauricular pit - 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." 7330,What is (are) Linear scleroderma ?,"Linear scleroderma is one sub-type of localized scleroderma, most commonly occurring in childhood. It is characterized by abnormalities of the skin and subcutaneous tissues that often follow a dermatomal distribution and that are found on one side of the body. Besides the lesion in the face or scalp there are also abnormalities of the muscles, fat tissue and skull. When the face is affected, some strips located on the forehead may be hollow and lead to an appearance termed ""en coup de sabre"". In most cases, Raynaud's phenomenon is absent. The exact cause is still unknown but may be related to an autoimmune reaction resulting in too much collagen. Management is symptomatic and includes immunosupressant medication. Physical therapy is helpful for the muscle retraction problems." 13723,What is (are) Postpartum Depression ?,"Many women have the baby blues after childbirth. If you have the baby blues, you may have mood swings, feel sad, anxious or overwhelmed, have crying spells, lose your appetite, or have trouble sleeping. The baby blues most often go away within a few days or a week. The symptoms are not severe and do not need treatment. The symptoms of postpartum depression last longer and are more severe. You may also feel hopeless and worthless, and lose interest in the baby. You may have thoughts of hurting yourself or the baby. Very rarely, new mothers develop something even more serious. They may have hallucinations or try to hurt themselves or the baby. They need to get treatment right away, often in the hospital. Postpartum depression can begin anytime within the first year after childbirth. The cause is not known. Hormonal and physical changes after birth and the stress of caring for a new baby may play a role. Women who have had depression are at higher risk. If you think you have postpartum depression, tell your health care provider. Medicines, including antidepressants and talk therapy can help you get well. Dept. of Health and Human Services Office on Women's Health" 3100,What is (are) episodic ataxia ?,"Episodic ataxia is a group of related conditions that affect the nervous system and cause problems with movement. People with episodic ataxia have recurrent episodes of poor coordination and balance (ataxia). During these episodes, many people also experience dizziness (vertigo), nausea and vomiting, migraine headaches, blurred or double vision, slurred speech, and ringing in the ears (tinnitus). Seizures, muscle weakness, and paralysis affecting one side of the body (hemiplegia) may also occur during attacks. Additionally, some affected individuals have a muscle abnormality called myokymia during or between episodes. This abnormality can cause muscle cramping, stiffness, and continuous, fine muscle twitching that appears as rippling under the skin. Episodes of ataxia and other symptoms can begin anytime from early childhood to adulthood. They can be triggered by environmental factors such as emotional stress, caffeine, alcohol, certain medications, physical activity, and illness. The frequency of attacks ranges from several per day to one or two per year. Between episodes, some affected individuals continue to experience ataxia, which may worsen over time, as well as involuntary eye movements called nystagmus. Researchers have identified at least seven types of episodic ataxia, designated type 1 through type 7. The types are distinguished by their pattern of signs and symptoms, age of onset, length of attacks, and, when known, genetic cause." 2546,How many people are affected by hypochondroplasia ?,"The incidence of hypochondroplasia is unknown. Researchers believe that it may be about as common as achondroplasia, which occurs in 1 in 15,000 to 40,000 newborns. More than 200 people worldwide have been diagnosed with hypochondroplasia." 586,How many people are affected by paramyotonia congenita ?,"Paramyotonia congenita is an uncommon disorder; it is estimated to affect fewer than 1 in 100,000 people." 3974,What are the treatments for dihydrolipoamide dehydrogenase deficiency ?,"These resources address the diagnosis or management of dihydrolipoamide dehydrogenase deficiency: - Gene Review: Gene Review: Dihydrolipoamide Dehydrogenase Deficiency - Genetic Testing Registry: Maple syrup urine disease, type 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" 2127,What are the genetic changes related to Vohwinkel syndrome ?,"The classic form of Vohwinkel syndrome is caused by mutations in the GJB2 gene. This gene provides instructions for making a protein called gap junction beta 2, more commonly known as connexin 26. Connexin 26 is a member of the connexin protein family. Connexin proteins form channels called gap junctions that permit the transport of nutrients, charged atoms (ions), and signaling molecules between neighboring cells that are in contact with each other. Gap junctions made with connexin 26 transport potassium ions and certain small molecules. Connexin 26 is found in cells throughout the body, including the inner ear and the skin. In the inner ear, channels made from connexin 26 are found in a snail-shaped structure called the cochlea. These channels may help to maintain the proper level of potassium ions required for the conversion of sound waves to electrical nerve impulses. This conversion is essential for normal hearing. In addition, connexin 26 may be involved in the maturation of certain cells in the cochlea. Connexin 26 also plays a role in the growth, maturation, and stability of the outermost layer of skin (the epidermis). The GJB2 gene mutations that cause Vohwinkel syndrome change single protein building blocks (amino acids) in connexin 26. The altered protein probably disrupts the function of normal connexin 26 in cells, and may interfere with the function of other connexin proteins. This disruption could affect skin growth and also impair hearing by disturbing the conversion of sound waves to nerve impulses. The variant form of Vohwinkel syndrome, sometimes called loricrin keratoderma, is caused by mutations in the LOR gene. This gene provides instructions for making a protein called loricrin, which is involved in the formation and maintenance of the epidermis, particularly its tough outer surface (the stratum corneum). The stratum corneum, which is formed in a process known as cornification, provides a sturdy barrier between the body and its environment. Each cell of the stratum corneum, called a corneocyte, is surrounded by a protein shell called a cornified envelope. Loricrin is a major component of the cornified envelope. Links between loricrin and other components of the envelopes hold the corneocytes together and help give the stratum corneum its strength. Mutations in the LOR gene change the structure of the loricrin protein; the altered protein is trapped inside the cell and cannot reach the cornified envelope. While other proteins can partially compensate for the missing loricrin, the envelope of some corneocytes is thinner than normal in affected individuals, resulting in ichthyosis and the other skin abnormalities associated with the variant form of Vohwinkel syndrome." 8872,What are the treatments for Pelizaeus-Merzbacher disease ?,How might Pelizaeus-Merzbacher disease be treated? 5207,What are the genetic changes related to familial hyperaldosteronism ?,"The various types of familial hyperaldosteronism have different genetic causes. Familial hyperaldosteronism type I is caused by the abnormal joining together (fusion) of two similar genes called CYP11B1 and CYP11B2, which are located close together on chromosome 8. These genes provide instructions for making two enzymes that are found in the adrenal glands. The CYP11B1 gene provides instructions for making an enzyme called 11-beta-hydroxylase. This enzyme helps produce hormones called cortisol and corticosterone. The CYP11B2 gene provides instructions for making another enzyme called aldosterone synthase, which helps produce aldosterone. When CYP11B1 and CYP11B2 are abnormally fused together, too much aldosterone synthase is produced. This overproduction causes the adrenal glands to make excess aldosterone, which leads to the signs and symptoms of familial hyperaldosteronism type I. Familial hyperaldosteronism type III is caused by mutations in the KCNJ5 gene. The KCNJ5 gene provides instructions for making a protein that functions as a potassium channel, which means that it transports positively charged atoms (ions) of potassium into and out of cells. In the adrenal glands,the flow of ions through potassium channels produced from the KCNJ5 gene is thought to help regulate the production of aldosterone. Mutations in the KCNJ5 gene likely result in the production of potassium channels that are less selective, allowing other ions (predominantly sodium) to pass as well. The abnormal ion flow results in the activation of biochemical processes (pathways) that lead to increased aldosterone production, causing the hypertension associated with familial hyperaldosteronism type III. The genetic cause of familial hyperaldosteronism type II is unknown." 14254,Who is at risk for Gout? ?,"Yes. A number of medications may put people at risk for developing hyperuricemia and gout. They include - diuretics, which are taken to eliminate excess fluid from the body in conditions like hypertension, edema, and heart disease, and which decrease the amount of uric acid passed in the urine. (High levels of uric acid in the blood can lead to gout.) - salicylate-containing drugs, such as aspirin - niacin, a vitamin also known as nicotinic acid - cyclosporine, a medication that suppresses the bodys immune system (the system that protects the body from infection and disease). This medication is used in the treatment of some autoimmune diseases and to prevent the bodys rejection of transplanted organs. - levodopa, a medicine used in the treatment of Parkinsons disease. diuretics, which are taken to eliminate excess fluid from the body in conditions like hypertension, edema, and heart disease, and which decrease the amount of uric acid passed in the urine. (High levels of uric acid in the blood can lead to gout.) salicylate-containing drugs, such as aspirin niacin, a vitamin also known as nicotinic acid cyclosporine, a medication that suppresses the bodys immune system (the system that protects the body from infection and disease). This medication is used in the treatment of some autoimmune diseases and to prevent the bodys rejection of transplanted organs. levodopa, a medicine used in the treatment of Parkinsons disease." 5286,How many people are affected by Fraser syndrome ?,"Fraser syndrome affects an estimated 1 in 200,000 newborns. The condition occurs in approximately 1 in 10,000 fetuses that do not survive to birth." 15220,What are the symptoms of Kidney Stones in Adults ?,"People with kidney stones may have pain while urinating, see blood in the urine, or feel a sharp pain in the back or lower abdomen. The pain may last for a short or long time. People may experience nausea and vomiting with the pain. However, people who have small stones that pass easily through the urinary tract may not have symptoms at all." 10629,What are the symptoms of Angelman syndrome ?,"What are the signs and symptoms of Angelman syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Angelman 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 tongue 90% Behavioral abnormality 90% Broad-based gait 90% Cerebral cortical atrophy 90% Clumsiness 90% Cognitive impairment 90% EEG abnormality 90% Incoordination 90% Mandibular prognathia 90% Muscular hypotonia 90% Neurological speech impairment 90% Seizures 90% Sporadic 75% Abnormality of the teeth 50% Hyperreflexia 50% Malar flattening 50% Wide mouth 50% Hernia of the abdominal wall 7.5% Strabismus 7.5% Absent speech - Autosomal dominant inheritance - Blue irides - Brachycephaly - Constipation - Deeply set eye - Drooling - Exotropia - Fair hair - Feeding difficulties in infancy - Flat occiput - Hyperactivity - Hypopigmentation of the skin - Hypoplasia of the maxilla - Intellectual disability, progressive - Intellectual disability, severe - Limb tremor - Macroglossia - Motor delay - Myopia - Nystagmus - Obesity - Paroxysmal bursts of laughter - Progressive gait ataxia - Protruding tongue - Scoliosis - Sleep-wake cycle disturbance - 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." 14084,Do you have information about Caregivers,"Summary : Caregivers provide help to another person in need. The person receiving care may be an adult - often a parent or a spouse - or a child with special medical needs. Some caregivers are family members. Others are paid. They do many things: - Shop for food and cook - Clean the house - Pay bills - Give medicine - Help the person go to the toilet, bathe and dress - Help the person eat - Provide company and emotional support Caregiving is hard, and caregivers of chronically ill people often feel stress. They are ""on call"" 24 hours a day, 7 days a week. If you're caring for someone with mental problems like Alzheimer's disease it can be especially difficult. Support groups can help. Dept. of Health and Human Services Office on Women's Health" 5150,What is (are) chronic granulomatous disease ?,"Chronic granulomatous disease is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body from foreign invaders such as bacteria and fungi. Individuals with chronic granulomatous disease may have recurrent bacterial and fungal infections. People with this condition may also have areas of inflammation (granulomas) in various tissues that can result in damage to those tissues. The features of chronic granulomatous disease usually first appear in childhood, although some individuals do not show symptoms until later in life. People with chronic granulomatous disease typically have at least one serious bacterial or fungal infection every 3 to 4 years. The lungs are the most frequent area of infection; pneumonia is a common feature of this condition. Individuals with chronic granulomatous disease may develop a type of fungal pneumonia, called mulch pneumonitis, which causes fever and shortness of breath after exposure to decaying organic materials such as mulch, hay, or dead leaves. Exposure to these organic materials and the numerous fungi involved in their decomposition causes people with chronic granulomatous disease to develop fungal infections in their lungs. Other common areas of infection in people with chronic granulomatous disease include the skin, liver, and lymph nodes. Inflammation can occur in many different areas of the body in people with chronic granulomatous disease. Most commonly, granulomas occur in the gastrointestinal tract and the genitourinary tract. In many cases the intestinal wall is inflamed, causing a form of inflammatory bowel disease that varies in severity but can lead to stomach pain, diarrhea, bloody stool, nausea, and vomiting. Other common areas of inflammation in people with chronic granulomatous disease include the stomach, colon, and rectum, as well as the mouth, throat, and skin. Additionally, granulomas within the gastrointestinal tract can lead to tissue breakdown and pus production (abscesses). Inflammation in the stomach can prevent food from passing through to the intestines (gastric outlet obstruction), leading to an inability to digest food. These digestive problems cause vomiting after eating and weight loss. In the genitourinary tract, inflammation can occur in the kidneys and bladder. Inflammation of the lymph nodes (lymphadenitis) and bone marrow (osteomyelitis), which both produce immune cells, can lead to further impairment of the immune system. Rarely, people with chronic granulomatous disease develop autoimmune disorders, which occur when the immune system malfunctions and attacks the body's own tissues and organs. Repeated episodes of infection and inflammation reduce the life expectancy of individuals with chronic granulomatous disease; however, with treatment, most affected individuals live into mid- to late adulthood." 10955,What are the complications of Neurological Complications of AIDS ?,"AIDS is primarily an immune system disorder caused by the human immunodeficiency virus (HIV), but it can also affect the nervous system. HIV does not appear to directly invade nerve cells but it jeopardizes their health and function, causing symptoms such as confusion, forgetfulness, behavioral changes, headaches, progressive weakness and loss of sensation in the arms and legs, cognitive motor impairment, or damage to the peripheral nerves. Other complications that can occur as a result of HIV infection or the drugs used to treat it include pain, seizures, shingles, spinal cord problems, lack of coordination, difficult or painful swallowing, anxiety disorder, depression, fever, vision loss, gait disorders, destruction of brain tissue, and coma. Other AIDS-related nervous system disorders may be caused by certain cancers or by illnesses that would not otherwise affect people with healthy immune systems. Among the most common neurological complications are: AIDS dementia complex, causing symptoms such as encephalitis (inflammation of the brain), behavioral changes, and a gradual decline in cognitive function; central nervous system lymphomas, cancerous tumors that either begin in the brain or result from a cancer that has spread from another site in the body; cryptococcal meningitis; cytomegalovirus infections; herpes virus infections; neuropathy; neurosyphilis; progressive multifocal leukoencephalopathy (PML); and psychological and neuropsychiatric disorders." 14799,What are the treatments for Breast Cancer ?,"You can seek conventional treatment from a specialized cancer doctor, called an oncologist. The oncologist will usually assemble a team of specialists to guide your therapy. Besides the oncologist, the team may include a surgeon, a radiation oncologist who is a specialist in radiation therapy, and others. Before starting treatment, you may want another doctor to review the diagnosis and treatment plan. Some insurance companies require a second opinion. Others may pay for a second opinion if you request it. You might also be eligible to enroll in a clinical trial to receive treatment that conventional therapies may not offer." 15999,What is (are) What I need to know about Crohn's Disease ?,"Crohn's disease is a disease that causes inflammation,* or swelling, and irritation of any part of the digestive tractalso called the gastrointestinal (GI) tract. The part most commonly affected is the end part of the small intestine, called the ileum. *See the Pronunciation Guide for tips on how to say the words in bold type. Crohns disease is one of two main forms of diseases of the GI tract named inflammatory bowel disease (IBD). The other form, called ulcerative colitis, affects the large intestine, which includes the colon and the rectumthe lower end of the large intestine, leading to the anus. With Crohns disease, chronicor long lastinginflammation may cause scar tissue to form in the lining of the intestine. When scar tissue builds up, the passage can become narrow, causing food and stool to move through the GI tract more slowlywhich can lead to pain, cramps, and diarrhea." 10877,What is the outlook for Multiple Sclerosis ?,"A physician may diagnose MS in some patients soon after the onset of the illness. In others, however, doctors may not be able to readily identify the cause of the symptoms, leading to years of uncertainty and multiple diagnoses punctuated by baffling symptoms that mysteriously wax and wane. The vast majority of patients are mildly affected, but in the worst cases, MS can render a person unable to write, speak, or walk. MS is a disease with a natural tendency to remit spontaneously, for which there is no universally effective treatment." 8583,What are the symptoms of Grubben de Cock Borghgraef syndrome ?,"What are the signs and symptoms of Grubben de Cock Borghgraef syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Grubben de Cock Borghgraef 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 eye movement 90% Blue sclerae 90% Cognitive impairment 90% Deviation of finger 90% Dry skin 90% Eczema 90% Muscular hypotonia 90% Round face 90% Seizures 90% Short neck 90% Short palm 90% Autosomal recessive inheritance - Delayed speech and language development - Intrauterine growth retardation - Microdontia - Partial agenesis of the corpus callosum - Postnatal growth retardation - 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." 9888,What is (are) Borjeson-Forssman-Lehmann syndrome ?,"Borjeson-Forssman-Lehmann syndrome (BFLS) is a genetic condition characterized by intellectual disability, obesity, seizures, hypogonadism, developmental delay and distinctive facial features. These symptoms are variable, even among members of the same family. BFLS is caused by mutations in the PHF6 gene on the X chromosome. This mutation is usually transmitted as an X-linked recessive trait, which means the disorder is fully expressed predominantly in males." 8919,What are the symptoms of Orofaciodigital syndrome 5 ?,"What are the signs and symptoms of Orofaciodigital syndrome 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Orofaciodigital syndrome 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) Median cleft lip 90% Postaxial hand polydactyly 90% Abnormality of the oral cavity 7.5% Brachydactyly syndrome 7.5% Epicanthus 7.5% Facial asymmetry 7.5% Finger syndactyly 7.5% Preaxial hand polydactyly 7.5% Aganglionic megacolon 5% Agenesis of corpus callosum 5% Bifid uvula 5% Cleft palate 5% Scoliosis 5% Autosomal recessive inheritance - Frontal bossing - Hypertelorism - Intellectual disability - Lobulated tongue - Postaxial foot polydactyly - 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." 753,Is Maffucci syndrome inherited ?,"Maffucci syndrome is not inherited. The mutations that cause this disorder are somatic, which means they occur during a person's lifetime. A somatic mutation occurs in a single cell. As that cell continues to grow and divide, the cells derived from it also have the same mutation. In Maffucci syndrome, the mutation is thought to occur in a cell during early development before birth; cells that arise from that abnormal cell have the mutation, while the body's other cells do not. This situation is called mosaicism." 12335,How to diagnose Childhood Non-Hodgkin Lymphoma ?,"Tests that examine the body and lymph system are used to detect (find) and diagnose childhood non-Hodgkin lymphoma. 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. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body, including electrolytes, uric acid, blood urea nitrogen (BUN), creatinine, and liver function values. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - Liver function tests : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by the liver. A higher than normal amount of a substance can be a sign of cancer. - 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. - PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. Sometimes a PET scan and a CT scan are done at the same time. If there is any cancer, this increases the chance that it will be found. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - 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 that the cancer has spread to the brain and spinal cord. This procedure is also called an LP or spinal tap. - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - Ultrasound exam: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. The picture can be printed to be looked at later. - A biopsy is done to diagnose childhood non-Hodgkin lymphoma: Cells and tissues are removed during a biopsy so they can be viewed under a microscope by a pathologist to check for signs of cancer. Because treatment depends on the type of non-Hodgkin lymphoma, biopsy samples should be checked by a pathologist who has experience in diagnosing childhood non-Hodgkin lymphoma. One of the following types of biopsies may be done: - Excisional biopsy : The removal of an entire lymph node or lump of tissue. - Incisional biopsy : The removal of part of a lump, lymph node, or sample of tissue. - Core biopsy : The removal of tissue or part of a lymph node using a wide needle. - Fine-needle aspiration (FNA) biopsy : The removal of tissue or part of a lymph node using a thin needle. The procedure used to remove the sample of tissue depends on where the tumor is in the body: - Bone marrow aspiration and biopsy : The removal of bone marrow and a small piece of bone by inserting a hollow needle into the hipbone or breastbone. - Mediastinoscopy : A surgical procedure to look at the organs, tissues, and lymph nodes between the lungs for abnormal areas. An incision (cut) is made at the top of the breastbone and a mediastinoscope is inserted into the chest. A mediastinoscope is a thin, tube-like instrument with a light and a lens for viewing. It also has a tool to remove tissue or lymph node samples, which are checked under a microscope for signs of cancer. - Anterior mediastinotomy : A surgical procedure to look at the organs and tissues between the lungs and between the breastbone and heart for abnormal areas. An incision (cut) is made next to the breastbone and a mediastinoscope is inserted into the chest. A mediastinoscope is a thin, tube-like instrument with a light and a lens for viewing. It also has a tool to remove tissue or lymph node samples, which are checked under a microscope for signs of cancer. This is also called the Chamberlain procedure. - Thoracentesis : The removal of fluid from the space between the lining of the chest and the lung, using a needle. A pathologist views the fluid under a microscope to look for cancer cells. If cancer is found, the following tests may be done to study the cancer cells: - Immunohistochemistry : A laboratory 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. - Flow cytometry : A laboratory test that measures the number of cells in a sample, the percentage of live cells in a sample, and certain characteristics of cells, such as size, shape, and the presence of tumor markers on the cell surface. The cells are stained with a light-sensitive dye, placed in a fluid, and passed in a stream before a laser or other type of light. The measurements are based on how the light-sensitive dye reacts to the light. - Cytogenetic analysis : A laboratory test in which cells in a sample of tissue are viewed under a microscope to look for certain changes in the chromosomes. - FISH (fluorescence in situ hybridization): A laboratory test used to look at genes or chromosomes in cells and tissues. Pieces of DNA that contain a fluorescent dye are made in the laboratory and added to cells or tissues on a glass slide. When these pieces of DNA attach to certain genes or areas of chromosomes on the slide, they light up when viewed under a microscope with a special light. This type of test is used to find certain gene changes. - Immunophenotyping : A laboratory test used to identify cells, based on the types of antigens or markers on the surface of the cell. This test is used to diagnose specific types of lymphoma by comparing the cancer cells to normal cells of the immune system." 4054,What are the treatments for oculofaciocardiodental syndrome ?,These resources address the diagnosis or management of oculofaciocardiodental syndrome: - Genetic Testing Registry: Oculofaciocardiodental 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 5494,What is (are) Castleman disease ?,"Castleman disease (CD) is a rare condition that affects the lymph nodes and related tissues. There are two main forms: unicentric CD and multicentric CD. Unicentric CD is a ""localized"" condition that is generally confined to a single set of lymph nodes, while multicentric CD is a ""systemic"" disease that affects multiple sets of lymph nodes and other tissues throughout the body. The exact underlying cause of CD is currently unknown; however, it is thought to occur sporadically in people with no family history of the condition. Treatment varies based on the form of the condition, the severity of symptoms and whether or not the affected person also has an HIV and/or human herpes virus type 8 (HHV-8) infection. For more specific information about each form of CD, please visit GARD's unicentric Castleman disease and multicentric Castleman disease pages." 2539,What are the treatments for Dandy-Walker malformation ?,These resources address the diagnosis or management of Dandy-Walker malformation: - Genetic Testing Registry: Dandy-Walker syndrome - National Hydrocephalus Foundation: Treatment of Hydrocephalus 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 14572,How to prevent Urinary Tract Infections ?,"Changing some of these daily habits may help prevent UTIs. - Wipe from front to back after using the toilet. Women should wipe from front to back to keep bacteria from getting into the urethra. This step is most important after a bowel movement. Wipe from front to back after using the toilet. Women should wipe from front to back to keep bacteria from getting into the urethra. This step is most important after a bowel movement. - Drink lots of fluid, especially water. Fluids can help flush bacteria from the urinary system. Water is best. Most healthy people should try to drink six to eight, 8-ounce glasses of fluid each day. (Some people need to drink less water because of certain conditions. For example, if you have kidney failure or heart disease, you should not drink this much fluid. Ask your health care provider how much fluid is healthy for you.) Drink lots of fluid, especially water. Fluids can help flush bacteria from the urinary system. Water is best. Most healthy people should try to drink six to eight, 8-ounce glasses of fluid each day. (Some people need to drink less water because of certain conditions. For example, if you have kidney failure or heart disease, you should not drink this much fluid. Ask your health care provider how much fluid is healthy for you.) - Urinate often and when the urge arises. Try to urinate at least every 3 to 4 hours. Bacteria are more likely to grow in the bladder when urine stays in the bladder too long. Urinate often and when the urge arises. Try to urinate at least every 3 to 4 hours. Bacteria are more likely to grow in the bladder when urine stays in the bladder too long. - Urinate after sex. Both women and men should urinate shortly after sex to flush away bacteria that may have entered the urethra during sex. Urinate after sex. Both women and men should urinate shortly after sex to flush away bacteria that may have entered the urethra during sex. - Wear cotton underwear and loose-fitting clothes. Wearing looser, cotton clothing will allow air to keep the area around the urethra dry. Tight-fitting jeans and nylon underwear should be avoided because they can trap moisture and help bacteria grow. Wear cotton underwear and loose-fitting clothes. Wearing looser, cotton clothing will allow air to keep the area around the urethra dry. Tight-fitting jeans and nylon underwear should be avoided because they can trap moisture and help bacteria grow. Drinking cranberry juice or taking cranberry supplements also may help prevent UTIs. Some studies have shown that cranberry products make UTIs less likely, especially in people who get UTIs often. But in other studies, cranberry products did not help." 9547,What are the symptoms of Microphthalmia syndromic 8 ?,"What are the signs and symptoms of Microphthalmia syndromic 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia syndromic 8. 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 affecting the eye 90% Cognitive impairment 90% Mandibular prognathia 90% Median cleft lip 90% Microcephaly 90% Split foot 90% Cryptorchidism 50% Triphalangeal thumb 50% Visual impairment 50% Ventricular septal defect 7.5% Blepharophimosis - Cleft palate - Intellectual disability - Microcornea - Microphthalmia - Oral cleft - Premature skin wrinkling - Short palpebral fissure - Widely-spaced maxillary central incisors - 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." 16201,Who is at risk for What I need to know about Hepatitis B? ?,"Anyone can get hepatitis B, but those more likely to are people who - were born to a mother with hepatitis B - are in contact with blood, needles, or body fluids at work - live with someone who currently has an active hepatitis B infection - have had more than one sex partner in the last 6 months or have a history of sexually transmitted disease - are on kidney dialysisthe process of filtering wastes and extra water from the body by means other than the kidneys - are taking medicines that suppress the immune system, such as steroids or chemotherapy medicines - have lived in or travel often to parts of the world where hepatitis B is common - are from Asian and Pacific Island nations - are infected with HIV or hepatitis C - have injected illegal drugs - work or live in a prison - had a blood transfusion or organ transplant before the mid-1980s Also, men who have sex with men are more likely to get hepatitis B." 1242,What are the genetic changes related to actin-accumulation myopathy ?,"Actin-accumulation myopathy is caused by a mutation in the ACTA1 gene. This gene provides instructions for making a protein called skeletal alpha ()-actin, which is a member of the actin protein family found in skeletal muscles. 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. ACTA1 gene mutations that cause actin-accumulation myopathy may affect the way the skeletal -actin protein binds to ATP. ATP is a molecule that supplies energy for cells' activities, and is important in the formation of thin filaments from individual actin molecules. Dysfunctional actin-ATP binding may result in abnormal thin filament formation and impair muscle contraction, leading to muscle weakness and the other signs and symptoms of actin-accumulation myopathy. In some people with actin-accumulation myopathy, no ACTA1 gene mutations have been identified. The cause of the disorder in these individuals is unknown." 3396,How many people are affected by histidinemia ?,"Estimates of the incidence of histidinemia vary widely, ranging between 1 in 8,600 to 1 in 90,000 people." 5690,What causes Kyrle disease ?,"What causes Kyrle disease? The cause of Kyrle disease is currently unknown. Some cases appear to be idiopathic (no known triggers), or inherited. What has been found is that Kyrle disease appears to occur more frequently in patients with certain systemic disorders, which include diabetes mellitus; renal disease (chronic renal failure, albuminuria, elevated serum creatinine, abnormal creatinine clearance, polyuria); hepatic abnormalities (alcoholic cirrhosis); and congestive heart failure. It has been thought that metabolic disorders associated with Kyrle disease are somehow responsible for development of abnormal keratinization and connective tissue changes, but the exact mechanism by which this happens is unclear." 431,How many people are affected by CAV3-related distal myopathy ?,The prevalence of CAV3-related distal myopathy is unknown. Only a few affected individuals have been described in the medical literature. 5058,Is leptin receptor deficiency 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." 6363,What are the symptoms of Syngnathia multiple anomalies ?,"What are the signs and symptoms of Syngnathia multiple anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Syngnathia multiple 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) Abnormality of the teeth 90% Aplasia/Hypoplasia affecting the eye 90% Choanal atresia 90% Cognitive impairment 90% Facial palsy 90% Iris coloboma 90% Microcephaly 90% Narrow mouth 90% Nystagmus 90% Respiratory insufficiency 90% Sacrococcygeal pilonidal abnormality 90% Short stature 90% Trismus 90% Vertebral segmentation defect 90% 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." 14093,What is (are) Amyloidosis ?,"Amyloidosis occurs when abnormal proteins called amyloids build up and form deposits. The deposits can collect in organs such as the kidney and heart. This can cause the organs to become stiff and unable to work the way they should. There are three main types of amyloidosis: - Primary - with no known cause - Secondary - caused by another disease, including some types of cancer - Familial - passed down through genes Symptoms can vary, depending upon which organs are affected. Treatment depends on the type of amyloidosis you have. The goal is to help with symptoms and limit the production of proteins. If another disease is the cause, it needs to be treated." 15889,What is (are) Short Bowel Syndrome ?,"Intestinal adaptation is a process that usually occurs in children after removal of a large portion of their small intestine. The remaining small intestine goes through a period of adaptation and grows to increase its ability to absorb nutrients. Intestinal adaptation can take up to 2 years to occur, and during this time a person may be heavily dependent on parenteral or enteral nutrition.1" 14920,How many people are affected by Heart Attack ?,"Very common. Each year, more than 1 million people in the U.S. have a heart attack and about half of them die. About one-half of those who die do so within 1 hour of the start of symptoms and before reaching the hospital." 4290,What is (are) spondyloperipheral dysplasia ?,"Spondyloperipheral dysplasia is a disorder that impairs bone growth. This condition is characterized by flattened bones of the spine (platyspondyly) and unusually short fingers and toes (brachydactyly), with the exception of the first (big) toes. Other skeletal abnormalities associated with spondyloperipheral dysplasia include short stature, shortened long bones of the arms and legs, exaggerated curvature of the lower back (lordosis), and an inward- and upward-turning foot (clubfoot). Additionally, some affected individuals have nearsightedness (myopia), hearing loss, and intellectual disability." 11778,what research (or clinical trials) is being done for Apraxia ?,"The NINDS supports research on movement disorders and conditions such as apraxia. The goals of this research are to increase scientific understanding of these disorders, and to find ways to prevent, treat, and cure them." 6108,What is (are) Membranous nephropathy ?,"Membranous nephropathy is a kidney disease characterized by inflammation of the structures inside the kidney that help filter wastes and fluids. When the glomerular basement membrane becomes thickened, it does not work normally, allowing large amounts of protein to be lost in the urine. Symptoms develop gradually and may include swelling, fatigue, weight gain, and high blood pressure. In many cases, the underlying cause of membranous nephropathy is not known. Some cases are associated with other conditions (lupus), infections (hepatitis B and C), cancer or as a side effect of certain medications. The goal of treatment is to reduce symptoms and slow the progression of the disease." 16024,How to prevent Wilson Disease ?,"A person cannot prevent Wilson disease; however, people with a family history of Wilson disease, especially those with an affected sibling or parent, should talk with a health care provider about testing. A health care provider may be able to diagnose Wilson disease before symptoms appear. Early diagnosis and treatment of Wilson disease can reduce or even prevent organ damage. People with a family history of the disease may also benefit from genetic testing that can identify one or more gene mutations. A health care provider may refer a person with a family history of Wilson disease to a geneticista doctor who specializes in genetic diseases." 4380,What is (are) juvenile idiopathic arthritis ?,"Juvenile idiopathic arthritis refers to a group of conditions involving joint inflammation (arthritis) that first appears before the age of 16. This condition is an autoimmune disorder, which means that the immune system malfunctions and attacks the body's organs and tissues, in this case the joints. Researchers have described seven types of juvenile idiopathic arthritis. The types are distinguished by their signs and symptoms, the number of joints affected, the results of laboratory tests, and the family history. Systemic juvenile idiopathic arthritis causes inflammation in one or more joints. A high daily fever that lasts at least 2 weeks either precedes or accompanies the arthritis. Individuals with systemic arthritis may also have a skin rash or enlargement of the lymph nodes (lymphadenopathy), liver (hepatomegaly), or spleen (splenomegaly). Oligoarticular juvenile idiopathic arthritis (also known as oligoarthritis) has no features other than joint inflammation. Oligoarthritis is marked by the occurrence of arthritis in four or fewer joints in the first 6 months of the disease. It is divided into two subtypes depending on the course of disease. If the arthritis is confined to four or fewer joints after 6 months, then the condition is classified as persistent oligoarthritis. If more than four joints are affected after 6 months, this condition is classified as extended oligoarthritis. Rheumatoid factor positive polyarticular juvenile idiopathic arthritis (also known as polyarthritis, rheumatoid factor positive) causes inflammation in five or more joints within the first 6 months of the disease. Individuals with this condition also have a positive blood test for proteins called rheumatoid factors. This type of arthritis closely resembles rheumatoid arthritis as seen in adults. Rheumatoid factor negative polyarticular juvenile idiopathic arthritis (also known as polyarthritis, rheumatoid factor negative) is also characterized by arthritis in five or more joints within the first 6 months of the disease. Individuals with this type, however, test negative for rheumatoid factor in the blood. Psoriatic juvenile idiopathic arthritis involves arthritis that usually occurs in combination with a skin disorder called psoriasis. Psoriasis is a condition characterized by patches of red, irritated skin that are often covered by flaky white scales. Some affected individuals develop psoriasis before arthritis while others first develop arthritis. Other features of psoriatic arthritis include abnormalities of the fingers and nails or eye problems. Enthesitis-related juvenile idiopathic arthritis is characterized by tenderness where the bone meets a tendon, ligament or other connective tissue. This tenderness, known as enthesitis, accompanies the joint inflammation of arthritis. Enthesitis-related arthritis may also involve inflammation in parts of the body other than the joints. The last type of juvenile idiopathic arthritis is called undifferentiated arthritis. This classification is given to affected individuals who do not fit into any of the above types or who fulfill the criteria for more than one type of juvenile idiopathic arthritis." 5683,What causes Lafora disease ?,"What causes Lafora disease? Most cases of Lafora disease are caused by changes (mutations) in either the EPM2A gene or the NHLRC1 gene. These genes encode proteins that play a critical role in the survival of nerve cells (neurons) in the brain. Although the proteins are thought to have many functions in the body, one important role is to help regulate the production of a complex sugar called glycogen (an important source of stored energy in the body). Mutations in the EPM2A gene or the NHLRC1 gene interfere with the production of functional proteins, leading to the formation of Lafora bodies (clumps of abnormal glycogen that cannot be broken down and used for fuel) within cells. A build up of Lafora bodies appears to be especially toxic to the cells of the nervous system and leads to the signs and symptoms of Lafora disease." 11998,How to diagnose Osteosarcoma and Malignant Fibrous Histiocytoma of Bone ?,"Imaging tests are used to detect (find) osteosarcoma and MFH. Imaging tests are done before the biopsy. 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. - X-ray : An x-ray of the organs and bones inside the body. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - 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. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). A biopsy is done to diagnose osteosarcoma. Cells and tissues are removed during a biopsy so they can be viewed under a microscope by a pathologist to check for signs of cancer. It is important that the biopsy be done by a surgeon who is an expert in treating cancer of the bone. It is best if that surgeon is also the one who removes the tumor. The biopsy and the surgery to remove the tumor are planned together. The way the biopsy is done affects which type of surgery can be done later. The type of biopsy that is done will be based on the size of the tumor and where it is in the body. There are two types of biopsy that may be used: - Core biopsy : The removal of tissue using a wide needle. - Incisional biopsy : The removal of part of a lump or a sample of tissue that doesn't look normal. The following test may be done on the tissue that is removed: - Light and electron microscopy : A laboratory test in which cells in a sample of tissue are viewed under regular and high-powered microscopes to look for certain changes in the cells." 13764,Do you have information about Arsenic,"Summary : Arsenic is a natural element found in soil and minerals. Arsenic compounds are used to preserve wood, as pesticides, and in some industries. Arsenic can get into air, water, and the ground from wind-blown dust. It may also get into water from runoff. You may be exposed to arsenic by - Taking in small amounts in food, drinking water, or air - Breathing sawdust or burning smoke from arsenic-treated wood - Living in an area with high levels of arsenic in rock - Working in a job where arsenic is made or used Exposure to arsenic can cause many health problems. Being exposed to low levels for a long time can change the color of your skin. It can cause corns and small warts. Exposure to high levels of arsenic can cause death. Agency for Toxic Substances Disease Registry" 11850,what research (or clinical trials) is being done for Anencephaly ?,"Research supported by the NINDS includes studies to understand how the brain and nervous system normally develop. These studies contribute to a greater understanding of neural tube disorders, such as anencephaly, and open promising new avenues to treat and prevent neurological birth defects." 10215,How to diagnose Rheumatic Fever ?,"How is rheumatic fever diagnosed? A diagnosis of rheumatic fever is usually based on the following: Characteristic signs and symptoms identified by physical examination and/or specialized testing such as a blood test, chest X-ray and echocardiogram Confirmation of group A Streptococcus bacterial infection with a throat culture or blood tests The diagnosis can also be supported by blood tests that confirm the presence of certain proteins that increase in response to inflammation (called acute-phase reactants) and tend to be elevated in rheumatic fever. Additional tests may be recommended to rule out other conditions that cause similar features." 8038,"What are the symptoms of Nevi flammei, familial multiple ?","What are the signs and symptoms of Nevi flammei, familial multiple? The Human Phenotype Ontology provides the following list of signs and symptoms for Nevi flammei, familial multiple. 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) Arteriovenous malformation 90% Hypermelanotic macule 90% Abnormality of the cranial nerves 7.5% Abnormality of the upper limb 7.5% Arrhythmia 7.5% Cerebral calcification 7.5% Cognitive impairment 7.5% Edema 7.5% Glaucoma 7.5% Hemiplegia/hemiparesis 7.5% Intracranial hemorrhage 7.5% Lower limb asymmetry 7.5% Pulmonary embolism 7.5% Scoliosis 7.5% Seizures 7.5% Skin ulcer 7.5% Thrombophlebitis 7.5% Venous insufficiency 7.5% Autosomal dominant inheritance - Nevus flammeus - 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." 11988,What is (are) Prostate Cancer ?,"Key Points - Prostate cancer is a disease in which malignant (cancer) cells form in the tissues of the prostate. - Prostate cancer is the second most common cancer among men in the United States. Prostate cancer is a disease in which malignant (cancer) cells form in the tissues of the prostate. The prostate is a gland in the male reproductive system. The prostate is just below the bladder (the organ that collects and empties urine) and in front of the rectum (the lower part of the intestine). It is about the size of a walnut and surrounds part of the urethra (the tube that empties urine from the bladder). The prostate gland produces fluid that makes up part of the semen. As men age, the prostate may get bigger. A bigger prostate may block the flow of urine from the bladder and cause problems with sexual function. This condition is called benign prostatic hyperplasia (BPH). BPH is not cancer, but surgery may be needed to correct it. The symptoms of BPH or of other problems in the prostate may be like symptoms of prostate cancer." 3579,What are the treatments for sickle cell disease ?,"These resources address the diagnosis or management of sickle cell disease: - Baby's First Test: S, Beta-Thalassemia - Baby's First Test: S, C Disease - Baby's First Test: Sickle Cell Anemia - Gene Review: Gene Review: Sickle Cell Disease - Genetic Testing Registry: Hb SS disease - Genomics Education Programme (UK) - Howard University Hospital Center for Sickle Cell Disease - MedlinePlus Encyclopedia: Sickle Cell Anemia - MedlinePlus Encyclopedia: Sickle Cell Test 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" 5567,What are the treatments for Adolescent idiopathic scoliosis ?,"How might adolescent idiopathic scoliosis be treated? Treatment of adolescent idiopathic scoliosis may involve observation, bracing and/or surgery. Treatment recommendations are generally dependent upon the risk of curve progression. Curves progress most during the rapid growth period of the patient (adolescent or pre-adolescent growth spurt). The potential for growth is evaluated by taking into consideration the patient's age, the status of whether females have had their first menstrual period, and radiographic parameters (x-ray studies). Detailed information about these treatment options can be accessed through the Scoliosis Research Society." 14424,What is (are) Knee Replacement ?,"Knee replacement may be either total or partial/unicompartmental. In total knee replacement, as the name suggests, the entire knee joint is replaced. You will likely need a total knee replacement if you have damage to several parts of your knee. In partial/unicompartmental knee replacement, the surgeon replaces just the damaged part of the knee. You may be able to have a partial knee replacement if only one section of your knee is damaged. However, when one part is replaced, there is a chance that another part will develop arthritis, requiring further surgery." 12900,What causes Polycythemia Vera ?,"Primary Polycythemia Polycythemia vera (PV) also is known as primary polycythemia. A mutation, or change, in the body's JAK2 gene is the main cause of PV. The JAK2 gene makes a protein that helps the body produce blood cells. What causes the change in the JAK2 gene isn't known. PV generally isn't inheritedthat is, passed from parents to children through genes. However, in some families, the JAK2 gene may have a tendency to mutate. Other, unknown genetic factors also may play a role in causing PV. Secondary Polycythemia Another type of polycythemia, called secondary polycythemia, isn't related to the JAK2 gene. Long-term exposure to low oxygen levels causes secondary polycythemia. A lack of oxygen over a long period can cause your body to make more of the hormone erythropoietin (EPO). High levels of EPO can prompt your body to make more red blood cells than normal. This leads to thicker blood, as seen in PV. People who have severe heart or lung disease may develop secondary polycythemia. People who smoke, spend long hours at high altitudes, or are exposed to high levels of carbon monoxide where they work or live also are at risk. For example, working in an underground parking garage or living in a home with a poorly vented fireplace or furnace can raise your risk for secondary polycythemia. Rarely, tumors can make and release EPO, or certain blood problems can cause the body to make more EPO. Sometimes doctors can cure secondary polycythemiait depends on whether the underlying cause can be stopped, controlled, or cured." 11111,What is (are) Central Pontine Myelinolysis ?,"Central pontine myelinolysis (CPM) is a neurological disorder that most frequently occurs after too rapid medical correction of sodium deficiency (hyponatremia). The rapid rise in sodium concentration is accompanied by the movement of small molecules and pulls water from brain cells. Through a mechanism that is only partly understood, the shift in water and brain molecules leads to the destruction of myelin, a substance that surrounds and protects nerve fibers. Nerve cells (neurons) can also be damaged. Certain areas of the brain are particularly susceptible to myelinolysis, especially the part of the brain stem called the pons. Some individuals will also have damage in other areas of the brain, which is called extrapontine myelinolysis (EPM). Experts estimate that 10 percent of those with CPM will also have areas of EPM. The initial symptoms of myelinolysis, which begin to appear 2 to 3 days after hyponatremia is corrected, include a depressed level of awareness, difficulty speaking (dysarthria or mutism), and difficulty swallowing (dysphagia). Additional symptoms often arise over the next 1-2 weeks, including impaired thinking, weakness or paralysis in the arms and legs, stiffness, impaired sensation, and difficulty with coordination. At its most severe, myelinolysis can lead to coma, locked-in syndrome (which is the complete paralysis of all of the voluntary muscles in the body except for those that control the eyes), and death. Although many affected people improve over weeks to months, some have permanent disability. Some also develop new symptoms later, including behavioral or intellectual impairment or movement disorders like parkinsonism or tremor. Anyone, including adults and children, who undergoes a rapid rise in serum sodium is at risk for myelinolysis. Some individuals who are particularly vulnerable are those with chronic alcoholism and those who have had a liver transplant. Myelinolysis has occurred in individuals undergoing renal dialysis, burn victims, people with HIV-AIDS, people over-using water loss pills (diuretics), and women with eating disorders such as anorexia or bulimia. The risk for CPM is greater if the serum (blood) sodium was low for at least 2 days before correction." 12555,What are the symptoms of Retinoblastoma ?,These and other signs and symptoms may be caused by retinoblastoma or by other conditions. Check with a doctor if your child has any of the following: - Pupil of the eye appears white instead of red when light shines into it. This may be seen in flash photographs of the child. - Eyes appear to be looking in different directions (lazy eye). - Pain or redness in the eye. - Infection around the eye. - Eyeball is larger than normal. - Colored part of the eye and pupil look cloudy. 558,Is Meesmann corneal dystrophy inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of an altered KRT12 or KRT3 gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the condition from an affected parent." 561,How many people are affected by prostate cancer ?,"About 1 in 7 men will be diagnosed with prostate cancer at some time during their life. In addition, studies indicate that many older men have undiagnosed prostate cancer that is non-aggressive and unlikely to cause symptoms or affect their lifespan. While most men who are diagnosed with prostate cancer do not die from it, this common cancer is still the second leading cause of cancer death among men in the United States. More than 60 percent of prostate cancers are diagnosed after age 65, and the disorder is rare before age 40. In the United States, African Americans have a higher risk of developing prostate cancer than do men of other ethnic backgrounds, and they also have a higher risk of dying from the disease." 6120,What are the symptoms of Menkes disease ?,"What are the signs and symptoms of Menkes disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Menkes 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) Abnormal hair quantity 90% Abnormality of the palate 90% Aneurysm 90% Aplasia/Hypoplasia of the abdominal wall musculature 90% Developmental regression 90% Dry skin 90% Feeding difficulties in infancy 90% Full cheeks 90% Hyperextensible skin 90% Hypertonia 90% Hypopigmentation of hair 90% Intracranial hemorrhage 90% Joint hypermobility 90% Microcephaly 90% Muscular hypotonia 90% Pectus excavatum 90% Seizures 90% Umbilical hernia 90% Woolly hair 90% Abnormality of the carotid arteries 50% Abnormality of the liver 50% Arterial stenosis 50% Atypical scarring of skin 50% Behavioral abnormality 50% Cognitive impairment 50% Exostoses 50% Malabsorption 50% Mask-like facies 50% Muscle weakness 50% Narrow chest 50% Nausea and vomiting 50% Prominent occiput 50% Thickened skin 50% Venous insufficiency 50% Wormian bones 50% Bladder diverticulum 7.5% Bowing of the long bones 7.5% Chondrocalcinosis 7.5% Chorea 7.5% Gastrointestinal hemorrhage 7.5% Hypoglycemia 7.5% Hypothermia 7.5% Intrauterine growth retardation 7.5% Osteomyelitis 7.5% Recurrent fractures 7.5% Reduced bone mineral density 7.5% Sepsis 7.5% Spontaneous hematomas 7.5% Tarsal synostosis 7.5% Abnormality of the face - Brachycephaly - Cutis laxa - Death in childhood - Hypopigmentation of the skin - Intellectual disability - Joint laxity - Metaphyseal spurs - Metaphyseal widening - Osteoporosis - Short stature - Sparse hair - X-linked recessive 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." 15140,What are the treatments for Parasites - Paragonimiasis (also known as Paragonimus Infection) ?,"Paragonimus infections are treatable by your health care provider. Prescription medications are available. More on: Resources for Health Professionals: Treatment" 7072,"What are the symptoms of Macular dystrophy, corneal type 1 ?","What are the signs and symptoms of Macular dystrophy, corneal type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Macular dystrophy, corneal 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) Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Corneal dystrophy - Juvenile onset - Macular dystrophy - Photophobia - Punctate opacification of the cornea - Recurrent corneal erosions - 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." 705,"What is (are) Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant ?","The Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome is a rare condition characterized by genital abnormalities in males, missing or underdeveloped kneecaps (patellae), intellectual disability, distinctive facial features, and abnormalities affecting other parts of the body. Males with the SBBYS variant of Ohdo syndrome typically have undescended testes (cryptorchidism). Females with this condition have normal genitalia. Missing or underdeveloped patellae is the most common skeletal abnormality associated with the SBBYS variant of Ohdo syndrome. Affected individuals also have joint stiffness involving the hips, knees, and ankles that can impair movement. Although joints in the lower body are stiff, joints in the arms and upper body may be unusually loose (lax). Many people with this condition have long thumbs and first (big) toes. The SBBYS variant of Ohdo syndrome is also associated with delayed development and intellectual disability, which are often severe. Many affected infants have weak muscle tone (hypotonia) that leads to breathing and feeding difficulties. The SBBYS variant of Ohdo syndrome is characterized by a mask-like, non-expressive face. Additionally, affected individuals may have distinctive facial features such as prominent cheeks, a broad nasal bridge or a nose with a rounded tip, a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and abnormalities of the tear (lacrimal) glands. About one-third of affected individuals are born with an opening in the roof of the mouth called a cleft palate. The SBBYS variant of Ohdo syndrome can also be associated with heart defects and dental problems." 6646,"What are the symptoms of Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction ?","What are the signs and symptoms of Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction? The Human Phenotype Ontology provides the following list of signs and symptoms for Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction. 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) Anal atresia - Autoimmune thrombocytopenia - Autosomal recessive inheritance - Cervical ribs - Hypertrophy of the urinary bladder - Omphalocele - Preaxial hand polydactyly - Prune belly - Renal dysplasia - Renal hypoplasia - Sprengel anomaly - Talipes equinovarus - Thoracolumbar scoliosis - Urethral obstruction - 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." 10324,What are the symptoms of Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus ?,"What are the signs and symptoms of Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus? The Human Phenotype Ontology provides the following list of signs and symptoms for Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus. 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 cerebellum 90% Dandy-Walker malformation 90% Dolichocephaly 90% Frontal bossing 90% Hydrocephalus 90% Hypertelorism 90% Optic atrophy 90% Cognitive impairment 50% Strabismus 50% Autosomal dominant inheritance - Posterior fossa cyst - Sagittal craniosynostosis - 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." 5757,What are the symptoms of Jansen type metaphyseal chondrodysplasia ?,"What are the signs and symptoms of Jansen type metaphyseal chondrodysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Jansen type metaphyseal chondrodysplasia. 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) Craniofacial hyperostosis 90% Frontal bossing 90% Hypertelorism 90% Micromelia 90% Proptosis 90% Abnormality of calcium-phosphate metabolism 50% Brachydactyly syndrome 50% Clinodactyly of the 5th finger 50% Hypercalcemia 50% Hypoparathyroidism 50% Increased bone mineral density 50% Narrow chest 50% Sensorineural hearing impairment 7.5% Autosomal dominant inheritance - Bowing of the long bones - Brachycephaly - Choanal atresia - Choanal stenosis - Clubbing of fingers - Elevated alkaline phosphatase - Hip contracture - Hypercalciuria - Hyperphosphaturia - Hypophosphatemia - Knee flexion contracture - Metaphyseal chondrodysplasia - Metaphyseal cupping - Misalignment of teeth - Nephrocalcinosis - Osteopenia - Pathologic fracture - Prominent supraorbital arches in adult - Severe short stature - Short long bone - Short ribs - Thick skull base - Waddling 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." 7230,How to diagnose Buschke Ollendorff syndrome ?,"Is genetic testing available for Buschke Ollendorff syndrome? Yes. GeneTests lists the names of laboratories that are performing genetic testing for Buschke Ollendorff syndrome. 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." 1804,What are the treatments for Behet disease ?,These resources address the diagnosis or management of Behet disease: - American Behcet's Disease Association: Diagnosis - American Behcet's Disease Association: Treatments - Genetic Testing Registry: Behcet'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 6409,What is (are) Craniopharyngioma ?,"A craniopharyngioma is a slow-growing benign tumor that develops near the pituitary gland (a small endocrine gland at the base of the brain) and the hypothalamus (a small cone-shaped organ connected to the pituitary gland by nerves). This tumor most commonly affects children between 5 and 10 years of age; however, adults can sometimes be affected. Craniopharyngiomas are thought to arise from remnants of the craniopharyngeal duct and/or Rathke cleft or from metaplasia (abnormal transformation of cells) of squamous epithelial cell remnants of the stomadeum.[orphanet] Craniopharyngioma is treated with surgery alone or by surgery followed by radiation." 15333,What is (are) Adrenal Insufficiency and Addison's Disease ?,"Adrenal insufficiency is an endocrine, or hormonal, disorder that occurs when the adrenal glands do not produce enough of certain hormones. The adrenal glands are located just above the kidneys. Adrenal insufficiency can be primary or secondary. Addisons disease, the common term for primary adrenal insufficiency, occurs when the adrenal glands are damaged and cannot produce enough of the adrenal hormone cortisol. The adrenal hormone aldosterone may also be lacking. Addisons disease affects 110 to 144 of every 1 million people in developed countries.1 Secondary adrenal insufficiency occurs when the pituitary glanda pea-sized gland at the base of the brainfails to produce enough adrenocorticotropin (ACTH), a hormone that stimulates the adrenal glands to produce the hormone cortisol. If ACTH output is too low, cortisol production drops. Eventually, the adrenal glands can shrink due to lack of ACTH stimulation. Secondary adrenal insufficiency is much more common than Addisons disease. 1" 9661,What causes Long QT syndrome ?,"What causes long QT syndrome? Acquired long QT syndrome can be caused by certain medicines and medical conditions. Some medications that cause long QT syndrome include antihistamines and decongestants, antibiotics, antidepressants, and cholesterol-lowering medicines. Examples of medical conditions that can cause long QT syndrome include excessive diarrhea or vomiting and certain thyroid disorders. Inherited forms of long QT syndrome are caused by changes in genes that control the heart muscles electrical activity. Inherited long QT syndrome may be isolated (occur alone without other associated symptoms) or be due to a genetic syndrome, such as Romano-Ward syndrome, Jervell Lang-Nielsen syndrome, Anderson-Tawil syndrome, and Timothy syndrome." 3979,What are the treatments for Leber congenital amaurosis ?,These resources address the diagnosis or management of Leber congenital amaurosis: - Gene Review: Gene Review: Leber Congenital Amaurosis - Genetic Testing Registry: Leber congenital amaurosis 1 - Genetic Testing Registry: Leber congenital amaurosis 10 - Genetic Testing Registry: Leber congenital amaurosis 12 - Genetic Testing Registry: Leber congenital amaurosis 13 - Genetic Testing Registry: Leber congenital amaurosis 14 - Genetic Testing Registry: Leber congenital amaurosis 2 - Genetic Testing Registry: Leber congenital amaurosis 3 - Genetic Testing Registry: Leber congenital amaurosis 4 - Genetic Testing Registry: Leber congenital amaurosis 5 - Genetic Testing Registry: Leber congenital amaurosis 9 - Genetic Testing Registry: Leber's amaurosis - National Eye Institute: Gene Therapy for Leber Congenital Amaurosis 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 10768,What are the symptoms of Okamoto syndrome ?,"What are the signs and symptoms of Okamoto syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Okamoto 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 eyelashes 90% Abnormality of the hip bone 90% Anteverted nares 90% Cleft palate 90% Cognitive impairment 90% Depressed nasal bridge 90% Downturned corners of mouth 90% Low-set, posteriorly rotated ears 90% Malar flattening 90% Muscular hypotonia 90% Open mouth 90% Proptosis 90% Short nose 90% Abnormality of the cardiac septa 50% Abnormality of the fingernails 50% Epicanthus 50% Long philtrum 50% Synophrys 50% Webbed neck 50% Abnormality of female internal genitalia 7.5% Abnormality of the aortic valve 7.5% Abnormality of the pinna 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Finger syndactyly 7.5% Hypertelorism 7.5% Hypoplastic left heart 7.5% Intestinal malrotation 7.5% Microcephaly 7.5% Patent ductus arteriosus 7.5% Renal hypoplasia/aplasia 7.5% Splenomegaly 7.5% Tented upper lip vermilion 7.5% Urogenital fistula 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." 15009,How to diagnose Parasites - Toxocariasis (also known as Roundworm Infection) ?,"If you think you or your child may have toxocariasis, you should see your health care provider to discuss the possibility of infection and, if necessary, to be examined. Toxocariasis can be difficult to diagnose because the symptoms of toxocariasis are similar to the symptoms of other infections. A blood test is available that looks for evidence of infection with Toxocara larvae. In addition to the blood test, diagnosis of toxocariasis includes identifying the presence of typical clinical signs of VT or OT and a history of exposure to cats and dogs." 3790,What is (are) tyrosinemia ?,"Tyrosinemia is a genetic disorder characterized by disruptions in the multistep process that breaks down the amino acid tyrosine, a building block of most proteins. If untreated, tyrosine and its byproducts build up in tissues and organs, which can lead to serious health problems. There are three types of tyrosinemia, which are each distinguished by their symptoms and genetic cause. Tyrosinemia type I, the most severe form of this disorder, is characterized by signs and symptoms that begin in the first few months of life. Affected infants fail to gain weight and grow at the expected rate (failure to thrive) due to poor food tolerance because high-protein foods lead to diarrhea and vomiting. Affected infants may also have yellowing of the skin and whites of the eyes (jaundice), a cabbage-like odor, and an increased tendency to bleed (particularly nosebleeds). Tyrosinemia type I can lead to liver and kidney failure, softening and weakening of the bones (rickets), and an increased risk of liver cancer (hepatocellular carcinoma). Some affected children have repeated neurologic crises that consist of changes in mental state, reduced sensation in the arms and legs (peripheral neuropathy), abdominal pain, and respiratory failure. These crises can last from 1 to 7 days. Untreated, children with tyrosinemia type I often do not survive past the age of 10. Tyrosinemia type II can affect the eyes, skin, and mental development. Signs and symptoms often begin in early childhood and include eye pain and redness, excessive tearing, abnormal sensitivity to light (photophobia), and thick, painful skin on the palms of their hands and soles of their feet (palmoplantar hyperkeratosis). About 50 percent of individuals with tyrosinemia type II have some degree of intellectual disability. Tyrosinemia type III is the rarest of the three types. The characteristic features of this type include intellectual disability, seizures, and periodic loss of balance and coordination (intermittent ataxia). About 10 percent of newborns have temporarily elevated levels of tyrosine (transient tyrosinemia). In these cases, the cause is not genetic. The most likely causes are vitamin C deficiency or immature liver enzymes due to premature birth." 1608,Is dentinogenesis imperfecta 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." 763,Is 22q11.2 deletion syndrome inherited ?,"The inheritance of 22q11.2 deletion syndrome is considered autosomal dominant because a deletion in one copy of chromosome 22 in each cell is sufficient to cause the condition. Most cases of 22q11.2 deletion syndrome are not inherited, however. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family, though they can pass the condition to their children. In about 10 percent of cases, a person with this condition inherits the deletion in chromosome 22 from a parent. In inherited cases, other family members may be affected as well." 15397,What are the treatments for Urinary Tract Infections in Children ?,"Some abnormalities in the urinary tract correct themselves as the child grows, but some may require surgical correction. While milder forms of VUR may resolve on their own, one common procedure to correct VUR is the reimplantation of the ureters. During this procedure, the surgeon repositions the connection between the ureters and the bladder so that urine will not reflux into the ureters and kidneys. This procedure may be performed through an incision that gives the surgeon a direct view of the bladder and ureters or laparoscopically. Laparoscopy is a procedure that uses a scope inserted through a small incision. In recent years, health care providers have treated some cases of VUR by injecting substances into the bladder wall, just below the opening where the ureter joins the bladder. This injection creates a kind of narrowing or valve that keeps urine from refluxing into the ureters. The injection is delivered to the inside of the bladder through a catheter passed through the urethra, so there is no surgical incision. Evidence of clinically significant obstruction may indicate the need for surgery." 4113,Is Brugada syndrome 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. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family." 8884,What causes Febrile Ulceronecrotic Mucha-Habermann disease ?,"What causes febrile ulceronecrotic Mucha-Habermann disease? The cause of FUMHD is not known (idiopathic). A hypersensitivity to an infectious agent is suggested to be the main cause. Single cases of people with FUMHD and Epstein-Barr virus infection, adenovirus, or cytomegalovirus have been reported, but there has been no consistent finding so far. There is some suggestion that FUMHD may be a type of clonal T-cell disorder. Clonal means that all the T-cells were derived from the same cell. T cells are a type of white blood cell (lymphocytes). They make up part of the immune system. T cells help the body fight diseases or harmful substances." 12258,What is the outlook for Adult Non-Hodgkin Lymphoma ?,"Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer. - The type of non-Hodgkin lymphoma. - The amount of lactate dehydrogenase (LDH) in the blood. - Whether there are certain changes in the genes. - The patients age and general health. - Whether the lymphoma has just been diagnosed or has recurred (come back). For non-Hodgkin lymphoma during pregnancy, the treatment options also depend on: - The wishes of the patient. - Which trimester of pregnancy the patient is in. - Whether the baby can be delivered early. Some types of non-Hodgkin lymphoma spread more quickly than others do. Most non-Hodgkin lymphomas that occur during pregnancy are aggressive. Delaying treatment of aggressive lymphoma until after the baby is born may lessen the mother's chance of survival. Immediate treatment is often recommended, even during pregnancy." 9760,What are the symptoms of Brachydactyly type A6 ?,"What are the signs and symptoms of Brachydactyly type A6? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly type A6. 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 vertebral column - Aplasia/Hypoplasia of the middle phalanges of the hand - Autosomal dominant inheritance - Bipartite calcaneus - Broad finger - Broad toe - Carpal synostosis - Decreased finger mobility - Dysplastic distal radial epiphyses - Fibular hypoplasia - Hypoplasia of the radius - Hypoplasia of the ulna - Mesomelia - Radial deviation of finger - Short phalanx of finger - Short stature - Short tibia - Short toe - Tarsal synostosis - Type A brachydactyly - 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." 10217,What are the symptoms of Spondyloepimetaphyseal dysplasia x-linked with mental deterioration ?,"What are the signs and symptoms of Spondyloepimetaphyseal dysplasia x-linked with mental deterioration? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondyloepimetaphyseal dysplasia x-linked with mental deterioration. 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 rib cupping - Brachydactyly syndrome - Broad foot - Broad nasal tip - Broad palm - Coarse facial features - Cone-shaped capital femoral epiphysis - Coxa vara - Delayed CNS myelination - Delayed skeletal maturation - Depressed nasal bridge - Flared iliac wings - Flexion contracture - High palate - Hypertelorism - Hypoplasia of midface - Hypoplasia of the corpus callosum - Hypoplasia of the odontoid process - Intellectual disability, progressive - Low anterior hairline - Low-set ears - Malar flattening - Metaphyseal cupping of metacarpals - Metaphyseal widening - Optic disc pallor - Peg-like central prominence of distal tibial metaphyses - Platyspondyly - Prominent sternum - Seizures - Short femoral neck - Short finger - Short neck - Short stature - Small epiphyses - Spondyloepimetaphyseal dysplasia - Thick eyebrow - Thin ribs - Thoracic kyphosis - Widened subarachnoid space - Wormian bones - X-linked recessive 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." 2922,What are the genetic changes related to isobutyryl-CoA dehydrogenase deficiency ?,"Mutations in the ACAD8 gene cause IBD deficiency. This gene provides instructions for making the IBD enzyme, which is involved in breaking down valine. ACAD8 gene mutations reduce or eliminate the activity of the IBD enzyme. As a result, valine is not broken down properly. Impaired processing of valine may lead to reduced energy production and the features of IBD deficiency." 76,How many people are affected by proopiomelanocortin deficiency ?,POMC deficiency is a rare condition; approximately 50 cases have been reported in the medical literature. 1042,What are the genetic changes related to primary carnitine deficiency ?,"Mutations in the SLC22A5 gene cause primary carnitine deficiency. This gene provides instructions for making a protein called OCTN2 that transports carnitine into cells. Cells need carnitine to bring certain types of fats (fatty acids) into mitochondria, which are the energy-producing centers within cells. Fatty acids are a major source of energy for the heart and muscles. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues. Mutations in the SLC22A5 gene result in an absent or dysfunctional OCTN2 protein. As a result, there is a shortage (deficiency) of carnitine within cells. Without carnitine, fatty acids cannot enter mitochondria and be used to make energy. Reduced energy production can lead to some of the features of primary carnitine deficiency, such as muscle weakness and hypoglycemia. Fatty acids may also build up in cells and damage the liver, heart, and muscles. This abnormal buildup causes the other signs and symptoms of the disorder." 9829,Is Mitochondrial genetic disorders inherited ?,"Are mitochondrial genetic disorders inherited? Mitochondrial genetic disorder can be inherited in a variety of manners depending on the type of condition and the location of the disease-causing change (mutation). Those caused by mutations in mitochondrial DNA are transmitted by maternal inheritance. Only egg cells (not sperm cells) contribute mitochondria to the next generation, so only females can pass on mitochondrial mutations to their children. Conditions resulting from mutations in mitochondrial DNA can appear in every generation of a family and can affect both males and females. In some cases, the condition results from a new (de novo) mutation in a mitochondrial gene and occurs in a person with no history of the condition in the family. Mitochondrial genetic disorders caused by mutations in nuclear DNA may follow an autosomal dominant, autosomal recessive, or X-linked pattern of inheritance. In autosomal dominant conditions, one mutated copy of the responsible gene in each cell is enough to cause signs or symptoms of the condition. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with an autosomal dominant condition has a 50% chance with each pregnancy of passing along the altered gene to his or her child. When a condition is inherited in an autosomal recessive manner, a person must have a change 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. A condition is considered X-linked if the mutated gene that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is the other sex chromosome). Women have two X chromosomes and men have an X and a Y chromosome. X-linked conditions can be X-linked dominant or X-linked recessive. The inheritance is X-linked dominant if one copy of the altered gene in each cell is sufficient to cause the condition. Women with an X-linked dominant condition have a 50% chance of passing the condition on to a son or a daughter with each pregnancy. Men with an X-linked dominant condition will pass the condition on to all of their daughters and none of their sons. The inheritance is X-linked recessive if a gene on the X chromosome causes the condition in men with one gene mutation (they have only one X chromosome) and in females with two gene mutations (they have two X chromosomes). A woman with an X-linked condition will pass the mutation on to all of her sons and daughters. This means that all of her sons will have the condition and all of her daughters will be carriers. A man with an X-linked recessive condition will pass the mutation to all of his daughters (carriers) and none of his sons." 4702,What are the genetic changes related to lattice corneal dystrophy type I ?,"Lattice corneal dystrophy type I is caused by mutations in the TGFBI gene. This gene provides instructions for making a protein that is found in many tissues throughout the body, including the cornea. The TGFBI protein is part of the extracellular matrix, an intricate network that forms in the spaces between cells and provides structural support to tissues. The protein is thought to play a role in the attachment of cells to one another (cell adhesion) and cell movement (migration). The TGFBI gene mutations involved in lattice corneal dystrophy type I change single protein building blocks (amino acids) in the TGFBI protein. Mutated TGFBI proteins abnormally clump together and form amyloid deposits. However, it is unclear how the changes caused by the gene mutations induce the protein to form deposits." 5822,What is (are) X-linked congenital stationary night blindness ?,"X-linked congenital stationary night blindness (XLCSNB) is a disorder of the retina. People with this condition typically experience night blindness and other vision problems, including loss of sharpness (reduced visual acuity), severe nearsightedness (myopia), nystagmus, and strabismus. Color vision is typically not affected. These vision problems are usually evident at birth, but tend to be stable (stationary) over time. There are two major types of XLCSNB: the complete form and the incomplete form. Both types have very similar signs and symptoms. However, everyone with the complete form has night blindness, while not all people with the incomplete form have night blindness. The types are distinguished by their genetic cause." 14845,What is (are) High Blood Cholesterol ?,"A lipoprotein profile will also show the level of triglycerides in your blood. A desirable level is less than 150mg/dL. If the triglycerides in your blood are borderline high (150-199 mg/dL), or high (200 mg/dL or more), you may need treatment." 16247,What are the symptoms of Prostate Enlargement: Benign Prostatic Hyperplasia ?,"Lower urinary tract symptoms suggestive of benign prostatic hyperplasia may include - urinary frequencyurination eight or more times a day - urinary urgencythe inability to delay urination - trouble starting a urine stream - a weak or an interrupted urine stream - dribbling at the end of urination - nocturiafrequent urination during periods of sleep - urinary retention - urinary incontinencethe accidental loss of urine - pain after ejaculation or during urination - urine that has an unusual color or smell Symptoms of benign prostatic hyperplasia most often come from - a blocked urethra - a bladder that is overworked from trying to pass urine through the blockage The size of the prostate does not always determine the severity of the blockage or symptoms. Some men with greatly enlarged prostates have little blockage and few symptoms, while other men who have minimally enlarged prostates have greater blockage and more symptoms. Less than half of all men with benign prostatic hyperplasia have lower urinary tract symptoms.3 Sometimes men may not know they have a blockage until they cannot urinate. This condition, called acute urinary retention, can result from taking over-the-counter cold or allergy medications that contain decongestants, such as pseudoephedrine and oxymetazoline. A potential side effect of these medications may prevent the bladder neck from relaxing and releasing urine. Medications that contain antihistamines, such as diphenhydramine, can weaken the contraction of bladder muscles and cause urinary retention, difficulty urinating, and painful urination. When men have partial urethra blockage, urinary retention also can occur as a result of alcohol consumption, cold temperatures, or a long period of inactivity." 10195,What is (are) Lymphocytic infiltrate of Jessner ?,"Lymphocytic infiltrate of Jessner is a skin condition characterized by single or multiple small, nonscaly, red, bumps on the face, neck, and upper back. The bumps can enlarge to create a red plaque. Rarely, the skin lesions cause burning or itching. The condition tends to last for several months, sometimes longer. The lesions may fluctuate between periods of worsening and periods of improvement. Currently, the cause is not known." 15869,How to prevent Prevent diabetes problems: Keep your diabetes under control ?,"You can take steps each day to prevent diabetes problems. Steps Healthy Eating - Follow the healthy eating plan that you and your doctor or dietitian have made. - Learn what to eat to keep your blood glucose levels under control. - Make wise food choices to help you feel good every day and to lose weight if needed. Blood Glucose - Check your blood glucose every day. - Each time you check your blood glucose, write the number in a record book to share with your health care team. - Treat low blood glucose quickly. Physical Activity - Even small amounts of physical activity help manage diabetes. Aim for 30 to 60 minutes of physical activity most days of the week. Children and adolescents with type 2 diabetes who are 10 to 17 years old should aim for 60 minutes of activity every day. - Not all physical activity has to take place at the same time. - Do aerobic activities, such as brisk walking, which use your large muscles to make your heart beat faster. The large muscles are those of the upper and lower arms and legs and those that control head, shoulder, and hip movements. - Do activities to strengthen muscles and bone, such as lifting weights or sit-ups. Aim for two times a week. - Stretch to increase your flexibility, lower stress, and help prevent muscle soreness after physical activity. - Increase daily activity by decreasing time spent watching TV or at the computer. Children and adolescents should limit screen time not related to school to less than 2 hours per day. Limiting screen time can help you meet your physical activity goal. - Always talk with your doctor before you start a new physical activity program. Medicines - Take your medicines as directed, including insulin if ordered by your doctor. Feet - Check your feet every day for cuts, blisters, sores, swelling, redness, or sore toenails. Mouth - Brush and floss your teeth every day. Blood Pressure - Control your blood pressure and cholesterol. Smoking - Dont smoke." 12970,What are the symptoms of Kawasaki Disease ?,"Major Signs and Symptoms One of the main symptoms during the early part of Kawasaki disease, called the acute phase, is fever. The fever lasts longer than 5 days. It remains high even after treatment with standard childhood fever medicines. Other classic signs of the disease are: Swollen lymph nodes in the neck A rash on the mid-section of the body and in the genital area Red, dry, cracked lips and a red, swollen tongue Red, swollen palms of the hands and soles of the feet Redness of the eyes Other Signs and Symptoms During the acute phase, your child also may be irritable and have a sore throat, joint pain, diarrhea, vomiting, and stomach pain. Within 2 to 3 weeks of the start of symptoms, the skin on your child's fingers and toes may peel, sometimes in large sheets." 2460,What is (are) Milroy disease ?,"Milroy disease is a condition that affects the normal function of the lymphatic system. The lymphatic system produces and transports fluids and immune cells throughout the body. Impaired transport with accumulation of lymph fluid can cause swelling (lymphedema). Individuals with Milroy disease typically have lymphedema in their lower legs and feet at birth or develop it in infancy. The lymphedema typically occurs on both sides of the body and may worsen over time. Milroy disease is associated with other features in addition to lymphedema. Males with Milroy disease are sometimes born with an accumulation of fluid in the scrotum (hydrocele). Males and females may have upslanting toenails, deep creases in the toes, wart-like growths (papillomas), and prominent leg veins. Some individuals develop non-contagious skin infections called cellulitis that can damage the thin tubes that carry lymph fluid (lymphatic vessels). Episodes of cellulitis can cause further swelling in the lower limbs." 4167,What are the genetic changes related to familial cylindromatosis ?,"Familial cylindromatosis is caused by mutations in the CYLD gene. This gene provides instructions for making a protein that helps regulate nuclear factor-kappa-B. Nuclear factor-kappa-B is a group of related proteins that help protect cells from self-destruction (apoptosis) in response to certain signals. In regulating the action of nuclear factor-kappa-B, the CYLD protein allows cells to respond properly to signals to self-destruct when appropriate, such as when the cells become abnormal. By this mechanism, the CYLD protein acts as a tumor suppressor, which means that it helps prevent cells from growing and dividing too fast or in an uncontrolled way. People with familial cylindromatosis are born with a mutation in one of the two copies of the CYLD gene in each cell. This mutation prevents the cell from making functional CYLD protein from the altered copy of the gene. However, enough protein is usually produced from the other, normal copy of the gene to regulate cell growth effectively. For tumors to develop, a second mutation or deletion of genetic material involving the other copy of the CYLD gene must occur in certain cells during a person's lifetime. When both copies of the CYLD gene are mutated in a particular cell, that cell cannot produce any functional CYLD protein. The loss of this protein allows the cell to grow and divide in an uncontrolled way to form a tumor. In people with familial cylindromatosis, a second CYLD mutation typically occurs in multiple cells over an affected person's lifetime. The loss of CYLD protein in these cells leads to the growth of skin appendage tumors. Some researchers consider familial cylindromatosis and two related conditions called multiple familial trichoepithelioma and Brooke-Spiegler syndrome, which are also caused by CYLD gene mutations, to be different forms of the same disorder. It is unclear why mutations in the CYLD gene cause different patterns of skin appendage tumors in each of these conditions, or why the tumors are generally confined to the skin in these disorders." 9570,How to diagnose Hereditary multiple osteochondromas ?,"Is genetic testing available for hereditary multiple osteochondromas? GeneTests lists the names of laboratories that are performing genetic testing for hereditary multiple osteochondromas. To view the contact information for the clinical laboratories conducting testing for the EXT1 gene, click here. To view the contact information for the clinical laboratories conducting testing for the EXT2 gene, 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. How might malignant transformation in hereditary multiple exostoses (HME) be diagnosed? Surface irregularities and unorganized chalk deposits with light areas in the middle of the tumor and cartilage cap may be seen on a bone scan, ultrasound or preferably an MRI. However the diagnosis of chondrosarcoma can only be confirmed by a bone biopsy. What are the signs and symptoms of malignant transformation in hereditary multiple exostoses (HME)? A doctor may become suspicious of a malignant transformation if there is an increase in the size of the tumor in adults when bone growth is already complete. In addition, cancer should be suspected if the thickness of the cartilaginous cap of the osteochondroma is over 1-2 centimeters (normally, after bone growth is complete, the cap is only a few millimeters thick). Other signs of a malignant transformation may include bone pain, temporary loss of sensory or motor function due to compression of a nerve (neurapraxia) or pressure related symptoms in nearby organs. Is screening recommended for malignant transformation in hereditary multiple exostoses (HME)? At present, medical researchers agree that more studies need to be performed to determine the best screening protocols for those with HME, including the study of benefit/cost/risk. However a compelling study was published in 2014 by Czajka and DiCaprio which compares the screening of malignant transformation in people with HME to the screening of breast and cervical cancer in women. The authors conclude that screening should be offered to individuals with HME over the age of 16 (or when bone growth has been completed). They propose screening should include a thorough clinical examination and a full body MRI every two years. If an MRI is not possible than a bone scan be performed, followed by an ultrasound of the cartilage cap of any suspicious findings. The Czajka and DiCaprio further recommend that individuals with HME should be made aware of warning signs of malignant transformation and taught self examination techniques." 8976,Is Barrett esophagus inherited ?,"Is Barrett esophagus inherited? Barrett esophagus usually occurs sporadically in people with no family history of the condition. In rare cases, it can affect more than one family member; however, it is unclear whether these cases are due to common environmental exposures or an inherited predisposition (or a combination of the two). One study found that some people with Barrett esophagus who go on to develop esophageal adenocarcinoma have changes (mutations) in the MSR1, ASCC1, and/or CTHRC1 genes. However, additional studies are needed to confirm these findings." 3537,What are the genetic changes related to rapid-onset dystonia parkinsonism ?,"Rapid-onset dystonia parkinsonism is caused by mutations in the ATP1A3 gene. This gene provides instructions for making one part of a larger protein called Na+/K+ ATPase, also known as the sodium pump. This protein is critical for the normal function of nerve cells (neurons) in the brain. It transports charged atoms (ions) into and out of neurons, which is an essential part of the signaling process that controls muscle movement. Mutations in the ATP1A3 gene reduce the activity of the Na+/K+ ATPase or make the protein unstable. Studies suggest that the defective protein is unable to transport ions normally, which disrupts the electrical activity of neurons in the brain. However, it is unclear how a malfunctioning Na+/K+ ATPase causes the movement abnormalities characteristic of rapid-onset dystonia parkinsonism. In some people with rapid-onset dystonia parkinsonism, no mutation in the ATP1A3 gene has been identified. The genetic cause of the disorder is unknown in these individuals. Researchers believe that mutations in at least one other gene, which has not been identified, can cause this disorder." 14023,What is (are) Monkeypox Virus Infections ?,"Monkeypox is a rare viral disease. It occurs mostly in central and western Africa. Wild rodents and squirrels carry it, but it is called monkeypox because scientists saw it first in lab monkeys. In 2003, it was reported in prairie dogs and humans in the U.S. Centers for Disease Control and Prevention" 3415,What is (are) esophageal atresia/tracheoesophageal fistula ?,"Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a condition resulting from abnormal development before birth of the tube that carries food from the mouth to the stomach (the esophagus). During early development, the esophagus and windpipe (trachea) begin as a single tube that normally divides into the two adjacent passages between four and eight weeks after conception. If this separation does not occur properly, EA/TEF is the result. In esophageal atresia (EA), the upper esophagus does not connect (atresia) to the lower esophagus and stomach. Almost 90 percent of babies born with esophageal atresia also have a tracheoesophageal fistula (TEF), in which the esophagus and the trachea are abnormally connected, allowing fluids from the esophagus to get into the airways and interfere with breathing. A small number of infants have only one of these abnormalities. There are several types of EA/TEF, classified by the location of the malformation and the structures that are affected. In more than 80 percent of cases, the lower section of the malformed esophagus is connected to the trachea (EA with a distal TEF). Other possible configurations include having the upper section of the malformed esophagus connected to the trachea (EA with a proximal TEF), connections to the trachea from both the upper and lower sections of the malformed esophagus (EA with proximal and distal TEF), an esophagus that is malformed but does not connect to the trachea (isolated EA), and a connection to the trachea from an otherwise normal esophagus (H-type TEF with no EA). While EA/TEF arises during fetal development, it generally becomes apparent shortly after birth. Saliva, liquids fed to the infant, or digestive fluids may enter the windpipe through the tracheoesophageal fistula, leading to coughing, respiratory distress, and a bluish appearance of the skin or lips (cyanosis). Esophageal atresia blocks liquids fed to the infant from entering the stomach, so they are spit back up, sometimes along with fluids from the respiratory tract. EA/TEF is a life-threatening condition; affected babies generally require surgery to correct the malformation in order to allow feeding and prevent lung damage from repeated exposure to esophageal fluids. EA/TEF occurs alone (isolated EA/TEF) in about 40 percent of affected individuals. In other cases it occurs with other birth defects or as part of a genetic syndrome (non-isolated or syndromic EA/TEF)." 6270,What is (are) Ovarian small cell carcinoma ?,Ovarian small cell carcinoma is a rare cancer that typically occurs in young women. It is an aggressive tumor that can metastasize to other parts of the body. Ovarian small cell carcinoma is associated with hypercalcemia and is usually treated with platinum or etoposide-based chemotherapy. 11830,what research (or clinical trials) is being done for Pervasive Developmental Disorders ?,"The NINDS conducts and supports research on developmental disabilities, including PDD. Much of this research focuses on understanding the neurological basis of PDD and on developing techniques to diagnose, treat, prevent, and ultimately cure this and similar disorders." 9720,What are the treatments for Non-involuting congenital hemangioma ?,"How might non-involuting congenital hemangioma treated? Because non-involuting congenital hemangioma (NICH) is quite rare, there are no established guidelines for the treatment of this condition. However, the authors of one article on NICH suggest that there is no risk for excessive bleeding during the removal of an NICH and it is unlikely to regrow after surgery. Because NICH is a benign skin mark, surgery isn't necessary but can be considered to improve appearance of the skin." 644,What are the treatments for leukoencephalopathy with vanishing white matter ?,These resources address the diagnosis or management of leukoencephalopathy with vanishing white matter: - Gene Review: Gene Review: Childhood Ataxia with Central Nervous System Hypomelination/Vanishing White Matter - Genetic Testing Registry: Leukoencephalopathy with vanishing white matter 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 14277,What is (are) Diabetic Retinopathy ?,"National Eye Institute National Institutes of Health 2020 Vision Place Bethesda, MD 20892-3655 301-496-5248 E-mail: 2020@nei.nih.gov www.nei.nih.gov Find eye health organizations that address diabetic eye disease." 15578,What causes Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis ?,"The exact cause of microscopic colitis is unknown. Several factors may play a role in causing microscopic colitis. However, most scientists believe that microscopic colitis results from an abnormal immune-system response to bacteria that normally live in the colon. Scientists have proposed other causes, including - autoimmune diseases - medications - infections - genetic factors - bile acid malabsorption Autoimmune Diseases Sometimes people with microscopic colitis also have autoimmune diseasesdisorders in which the bodys immune system attacks the bodys own cells and organs. Autoimmune diseases associated with microscopic colitis include - celiac diseasea condition in which people cannot tolerate gluten because it damages the lining of the small intestine and prevents absorption of nutrients. Gluten is a protein found in wheat, rye, and barley. - thyroid diseases such as - Hashimotos diseasea form of chronic, or long lasting, inflammation of the thyroid. - Graves diseasea disease that causes hyperthyroidism. Hyperthyroidism is a disorder that occurs when the thyroid gland makes more thyroid hormone than the body needs. - rheumatoid arthritisa disease that causes pain, swelling, stiffness, and loss of function in the joints when the immune system attacks the membrane lining the joints. - psoriasisa skin disease that causes thick, red skin with flaky, silver-white patches called scales. More information is provided in the NIDDK health topics: - Celiac Disease - Hashimotos Disease - Graves Disease Medications Researchers have not found that medications cause microscopic colitis. However, they have found links between microscopic colitis and certain medications, most commonly - nonsteroidal anti-inflammatory drugs such as aspirin, ibuprofen, and naproxen - lansoprazole (Prevacid) - acarbose (Prandase, Precose) - ranitidine (Tritec, Zantac) - sertraline (Zoloft) - ticlopidine (Ticlid) Other medications linked to microscopic colitis include - carbamazepine - clozapine (Clozaril, FazaClo) - dexlansoprazole (Kapidex, Dexilant) - entacapone (Comtan) - esomeprazole (Nexium) - flutamide (Eulexin) - lisinopril (Prinivil, Zestril) - omeprazole (Prilosec) - pantoprazole (Protonix) - paroxetine (Paxil, Pexeva) - rabeprazole (AcipHex) - simvastatin (Zocor) - vinorelbine (Navelbine) Infections Bacteria. Some people get microscopic colitis after an infection with certain harmful bacteria. Harmful bacteria may produce toxins that irritate the lining of the colon. Viruses. Some scientists believe that viral infections that cause inflammation in the GI tract may play a role in causing microscopic colitis. Genetic Factors Some scientists believe that genetic factors may play a role in microscopic colitis. Although researchers have not yet found a gene unique to microscopic colitis, scientists have linked dozens of genes to other types of inflammatory bowel disease, including - Crohns diseasea disorder that causes inflammation and irritation of any part of the GI tract - ulcerative colitisa chronic disease that causes inflammation and ulcers in the inner lining of the large intestine More information is provided in the NIDDK health topics: - Crohns Disease - Ulcerative Colitis Bile Acid Malabsorption Some scientists believe that bile acid malabsorption plays a role in microscopic colitis. Bile acid malabsorption is the intestines inability to completely reabsorb bile acidsacids made by the liver that work with bile to break down fats. Bile is a fluid made by the liver that carries toxins and waste products out of the body and helps the body digest fats. Bile acids that reach the colon can lead to diarrhea." 13150,What are the symptoms of Arrhythmia ?,"Many arrhythmias cause no signs or symptoms. When signs or symptoms are present, the most common ones are: Palpitations (feelings that your heart is skipping a beat, fluttering, or beating too hard or fast) A slow heartbeat An irregular heartbeat Feeling pauses between heartbeats More serious signs and symptoms include: Anxiety Weakness, dizziness, and light-headedness Fainting or nearly fainting Sweating Shortness of breath Chest pain" 9075,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." 2876,How many people are affected by core binding factor acute myeloid leukemia ?,"Acute myeloid leukemia occurs in approximately 3.5 per 100,000 individuals each year. CBF-AML accounts for 12 to 15 percent of acute myeloid leukemia cases in adults." 4530,What is (are) familial hypertrophic cardiomyopathy ?,"Familial hypertrophic cardiomyopathy is a heart condition characterized by thickening (hypertrophy) of the heart (cardiac) muscle. Thickening usually occurs in the interventricular septum, which is the muscular wall that separates the lower left chamber of the heart (the left ventricle) from the lower right chamber (the right ventricle). In some people, thickening of the interventricular septum impedes the flow of oxygen-rich blood from the heart, which may lead to an abnormal heart sound during a heartbeat (heart murmur) and other signs and symptoms of the condition. Other affected individuals do not have physical obstruction of blood flow, but the pumping of blood is less efficient, which can also lead to symptoms of the condition. Cardiac hypertrophy often begins in adolescence or young adulthood, although it can develop at any time throughout life. The symptoms of familial hypertrophic cardiomyopathy are variable, even within the same family. Many affected individuals have no symptoms. Other people with familial hypertrophic cardiomyopathy may experience chest pain; shortness of breath, especially with physical exertion; a sensation of fluttering or pounding in the chest (palpitations); lightheadedness; dizziness; and fainting. While most people with familial hypertrophic cardiomyopathy are symptom-free or have only mild symptoms, this condition can have serious consequences. It can cause abnormal heart rhythms (arrhythmias) that may be life threatening. People with familial hypertrophic cardiomyopathy have an increased risk of sudden death, even if they have no other symptoms of the condition. A small number of affected individuals develop potentially fatal heart failure, which may require heart transplantation." 16260,"What is (are) Diabetes, Heart Disease, and Stroke ?","Prediabetes is a condition in which blood glucose levels are higher than normal but not high enough for a diagnosis of diabetes. Prediabetes is also called impaired fasting glucose or impaired glucose tolerance. Many people with prediabetes develop type 2 diabetes within 10 years. In addition, they are at risk for heart disease and stroke. With modest weight loss and moderate physical activity, people with prediabetes can delay or prevent type 2 diabetes and lower their risk of heart disease and stroke." 4653,Is persistent Mllerian duct 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. However, persistent Mllerian duct syndrome affects only males. Females with two mutated copies of the gene do not show signs and symptoms of the condition." 8001,"What are the symptoms of Immotile cilia syndrome, due to defective radial spokes ?","What are the signs and symptoms of Immotile cilia syndrome, due to defective radial spokes? The Human Phenotype Ontology provides the following list of signs and symptoms for Immotile cilia syndrome, due to defective radial spokes. 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) Absent respiratory ciliary axoneme radial spokes - Autosomal recessive inheritance - Chronic rhinitis - Ciliary dyskinesia - Immotile cilia - Nasal polyposis - Nonmotile sperm - Sinusitis - 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." 15767,How to diagnose Fecal Incontinence ?,"Health care providers diagnose fecal incontinence based on a persons medical history, physical exam, and medical test results. In addition to a general medical history, the health care provider may ask the following questions: - When did fecal incontinence start? - How often does fecal incontinence occur? - How much stool leaks? Does the stool just streak the underwear? Does just a little bit of solid or liquid stool leak out or does complete loss of bowel control occur? - Does fecal incontinence involve a strong urge to have a bowel movement or does it happen without warning? - For people with hemorrhoids, do hemorrhoids bulge through the anus? Do the hemorrhoids pull back in by themselves, or do they have to be pushed in with a finger? - How does fecal incontinence affect daily life? - Is fecal incontinence worse after eating? Do certain foods seem to make fecal incontinence worse? - Can passing gas be controlled? People may want to keep a stool diary for several weeks before their appointment so they can answer these questions. A stool diary is a chart for recording daily bowel movement details. A sample stool diary is available on the Bowel Control Awareness Campaign website at www.bowelcontrol.nih.gov. The person may be referred to a doctor who specializes in problems of the digestive system, such as a gastroenterologist, proctologist, or colorectal surgeon, or a doctor who specializes in problems of the urinary and reproductive systems, such as a urologist or urogynecologist. The specialist will perform a physical exam and may suggest one or more of the following tests: - anal manometry - anal ultrasound - magnetic resonance imaging (MRI) - defecography - flexible sigmoidoscopy or colonoscopy - anal electromyography (EMG) Anal manometry. Anal manometry uses pressure sensors and a balloon that can be inflated in the rectum to check the sensitivity and function of the rectum. Anal manometry also checks the tightness of the anal sphincter muscles around the anus. To prepare for this test, the person should use an enema and not eat anything 2 hours before the test. An enema involves flushing water or a laxative into the anus using a special squirt bottle. A laxative is medication that loosens stool and increases bowel movements. For this test, a thin tube with a balloon on its tip and pressure sensors below the balloon is inserted into the anus until the balloon is in the rectum and pressure sensors are located in the anal canal. The tube is slowly pulled back through the sphincter muscle to measure muscle tone and contractions. No anesthesia is needed for this test, which takes about 30 minutes. Anal ultrasound. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. An anal ultrasound is specific to the anus and rectum. The procedure is performed in a health care providers office, outpatient center, or hospital by a specially trained technician, and the images are interpreted by a radiologista doctor who specializes in medical imaging. Anesthesia is not needed. The images can show the structure of the anal sphincter muscles. MRI. MRI machines use radio waves and magnets to produce detailed pictures of the bodys internal organs and soft tissues without using x rays. The procedure is performed in an outpatient center or hospital by a specially trained technician, and the images are interpreted by a radiologist. Anesthesia is not needed, though people with a fear of confined spaces may be given medication to help them relax. An MRI may include the injection of special dye, called contrast medium. With most MRI machines, the person lies on a table that slides into a tunnel-shaped device that may be open ended or closed at one end; some newer machines are designed to allow the person to lie in a more open space. MRIs can show problems with the anal sphincter muscles. MRI is an alternative to anal ultrasound that may provide more detailed information, especially about the external anal sphincter. Defecography. This x ray of the area around the anus and rectum shows how well the person can hold and evacuate stool. The test also identifies structural changes in the rectum and anus such as rectocele and rectal prolapse. To prepare for the test, the person uses two enemas and does not eat anything 2 hours prior to the test. During the test, the health care provider fills the rectum with a soft paste that shows up on x rays and is the same consistency as stool. The person sits on a toilet inside an x-ray machine. The person is first asked to pull in and squeeze the sphincter muscles to prevent leakage and then to strain as if having a bowel movement. The radiologist studies the x rays to identify problems with the rectum, anus, and pelvic floor muscles. Flexible sigmoidoscopy or colonoscopy. These tests are used to help diagnose problems causing fecal incontinence. The tests are similar, but colonoscopy is used to view the rectum and entire colon, while flexible sigmoidoscopy is used to view just the rectum and lower colon. These tests are performed at a hospital or outpatient center by a gastroenterologist. For both tests, a health care provider will provide written bowel prep instructions to follow at home. The person may be asked to follow a clear liquid diet for 1 to 3 days before either test. A laxative may be required the night before the test. One or more enemas may be required the night before and about 2 hours before the test. In most cases, people will be given light anesthesia, and possibly pain medication, to help them relax during flexible sigmoidoscopy. Anesthesia is used for colonoscopy. For either test, the person will lie on a table while the gastroenterologist inserts a flexible tube into the anus. A small camera on the tube sends a video image of the intestinal lining to a computer screen. The test can show problems in the lower GI tract that may be causing the bowel control problem. The gastroenterologist may also perform a biopsy, a procedure that involves taking a piece of tissue from the bowel lining for examination with a microscope. The person will not feel the biopsy. A pathologista doctor who specializes in diagnosing diseasesexamines the tissue in a lab to confirm the diagnosis. Cramping or bloating may occur during the first hour after these tests. Driving is not permitted for 24 hours after flexible sigmoidoscopy or colonoscopy to allow the anesthesia time to wear off. Before the appointment, a person should make plans for a ride home. Full recovery is expected by the next day and the person is able to go back to a normal diet. Anal EMG. Anal EMG checks the health of the pelvic floor muscles and the nerves that control the muscles. The health care provider inserts a very thin needle electrode through the skin into the muscle. The electrode on the needle picks up the electrical activity given off by the muscles and shows it as images on a monitor or sounds through a speaker. An alternative type of anal EMG uses stainless steel plates attached to the sides of a plastic plug instead of a needle. The plug is inserted into the anal canal to measure the electrical activity of the external anal sphincter and other pelvic floor muscles. The average amount of electrical activity when the person relaxes quietly, squeezes to prevent a bowel movement, and strains to have a bowel movement shows whether there is damage to the nerves that control the external sphincter and pelvic floor muscles." 9350,What are the treatments for Familial hemiplegic migraine type 1 ?,"How might hemiplegic migraine be treated? Treatment of hemiplegic migraine varies depending on severity and which symptoms are most problematic for the patient. In general, treatments aim to manage symptoms. Drugs that are effective in the prevention of common migraines may be used in hemiplegic migraine. Prophylactic management is applied to patients with frequent, long lasting, or severe attacks. Examples of migraine drugs that have been tried with variable success in people with hemiplegic migraine, include oral verapamil, acetazolamide, lamotrigine. There are a few articles describing the use of nasal administration of ketamine, intravenous verapamil, and triptans for treatment of aura in people with hemiplegic migraine. Use of triptans in hemiplegic migraine is controversial and may be contraindicated in people with severe attacks. For further information on these and other treatments, we recommend that you speak with your healthcare provider." 4945,What is (are) malonyl-CoA decarboxylase deficiency ?,"Malonyl-CoA decarboxylase deficiency is a condition that prevents the body from converting certain fats to energy. The signs and symptoms of this disorder typically appear in early childhood. Almost all affected children have delayed development. Additional signs and symptoms can include weak muscle tone (hypotonia), seizures, diarrhea, vomiting, and low blood sugar (hypoglycemia). A heart condition called cardiomyopathy, which weakens and enlarges the heart muscle, is another common feature of malonyl-CoA decarboxylase deficiency." 11606,what research (or clinical trials) is being done for Schizencephaly ?,The NINDS conducts and supports a wide range of studies that explore the mechanisms of normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how to prevent or treat developmental brain defects such as schizencephaly. 10802,What is (are) Autoimmune myocarditis ?,"Autoimmune myocarditis is an autoimmune disease that affects the heart. The condition is characterized by inflammation of the heart muscle (myocardium). Some people with autoimmune myocarditis have no noticeable symptoms of the condition. When present, signs and symptoms may include chest pain, abnormal heartbeat, shortness of breath, fatigue, signs of infection (i.e. fever, headache, sore throat, diarrhea), and leg swelling. The exact underlying cause of the condition is currently unknown; however, autoimmune conditions, in general, occur when the immune system mistakenly attacks healthy tissue. Treatment is based on the signs and symptoms present in each person. In some cases, medications that suppress the immune system may be recommended." 3532,What are the genetic changes related to multiple sulfatase deficiency ?,"Multiple sulfatase deficiency is caused by mutations in the SUMF1 gene. This gene provides instructions for making an enzyme called formylglycine-generating enzyme (FGE). This enzyme is found in a cell structure called the endoplasmic reticulum, which is involved in protein processing and transport. The FGE enzyme modifies other enzymes called sulfatases, which aid in breaking down substances that contain chemical groups known as sulfates. These substances include a variety of sugars, fats, and hormones. Most SUMF1 gene mutations severely reduce the function of the FGE enzyme or lead to the production of an unstable enzyme that is quickly broken down. The activity of multiple sulfatases is impaired because the FGE enzyme modifies all known sulfatase enzymes. Sulfate-containing molecules that are not broken down build up in cells, often resulting in cell death. The death of cells in particular tissues, specifically the brain, skeleton, and skin, cause many of the signs and symptoms of multiple sulfatase deficiency. Research indicates that mutations that lead to reduced FGE enzyme function are associated with the less severe cases of the condition, whereas mutations that lead to the production of an unstable FGE enzyme tend to be associated with the more severe cases of multiple sulfatase deficiency." 3172,What are the genetic changes related to Muenke syndrome ?,"Mutations in the FGFR3 gene cause Muenke syndrome. The FGFR3 gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. A single mutation in the FGFR3 gene is responsible for Muenke syndrome. This mutation causes the FGFR3 protein to be overly active, which interferes with normal bone growth and allows the bones of the skull to fuse before they should." 8521,What is (are) Desmoplastic infantile ganglioglioma ?,"Desmoplastic infantile gangliomas (DIGs) are rare brain tumors that are normally located in the frontal or parietal lobes of the brain. They are usually diagnosed before 18 months of age with most infants presenting with a short duration of symptoms. Although seizures are not commonly observed, a bulging fontanelle, rapid head growth, vomiting, and a sunset sign are usually noted. The standard treatment for DIGs is surgical resection (surgical procedure in which the portion of the brain with the tumor is removed)." 6321,What causes Ovarian sex cord tumor with annular tubules ?,"What causes an ovarian sex cord tumor with annular tubules? Approximately one third of ovarian sex cord tumors with annual tubules (SCTATs) develop because of an underlying genetic condition called Peutz Jeghers syndrome (PJS), which is caused by a mutation in the STK11 gene. In these genetic cases, many small SCTATs develop in both ovaries and are almost always benign. The remaining two thirds of ovarian SCTATs are not related to a genetic condition and develop as a single tumor in one ovary; up to 25% of SCTATs in this group may be malignant. Ovarian SCTATs not related to PJS have no known cause and are believed to occur by chance." 15074,How to diagnose Parasites - Lymphatic Filariasis ?,"The standard method for diagnosing active infection is the identification of microfilariae in a blood smear by microscopic examination. The microfilariae that cause lymphatic filariasis circulate in the blood at night (called nocturnal periodicity). Blood collection should be done at night to coincide with the appearance of the microfilariae, and a thick smear should be made and stained with Giemsa or hematoxylin and eosin. For increased sensitivity, concentration techniques can be used. Serologic techniques provide an alternative to microscopic detection of microfilariae for the diagnosis of lymphatic filariasis. Patients with active filarial infection typically have elevated levels of antifilarial IgG4 in the blood and these can be detected using routine assays. Because lymphedema may develop many years after infection, lab tests are most likely to be negative with these patients." 4927,What are the genetic changes related to Frasier syndrome ?,"Mutations in the WT1 gene cause Frasier syndrome. The WT1 gene provides instructions for making a protein that regulates the activity of other genes by attaching (binding) to specific regions of DNA. On the basis of this action, the WT1 protein is called a transcription factor. The WT1 protein plays a role in the development of the kidneys and gonads (ovaries in females and testes in males) before birth. The WT1 gene mutations that cause Frasier syndrome lead to the production of a protein with an impaired ability to control gene activity and regulate the development of the kidneys and reproductive organs, resulting in the signs and symptoms of Frasier syndrome. Frasier syndrome has features similar to another condition called Denys-Drash syndrome, which is also caused by mutations in the WT1 gene. Because these two conditions share a genetic cause and have overlapping features, some researchers have suggested that they are part of a spectrum and not two distinct conditions." 9337,What are the symptoms of Mousa Al din Al Nassar syndrome ?,"What are the signs and symptoms of Mousa Al din Al Nassar syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Mousa Al din Al Nassar 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) Cataract 90% Corneal dystrophy 90% Hypertonia 90% Incoordination 90% Myopia 90% Aplasia/Hypoplasia of the cerebellum 50% Decreased antibody level in blood 50% EMG abnormality 50% Gait disturbance 50% Hemiplegia/hemiparesis 50% Optic atrophy 50% Autosomal recessive inheritance - Congenital cataract - Spastic ataxia - Spinocerebellar tract degeneration - 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." 6372,What is (are) Blastomycosis ?,"Blastomycosis is a rare infection that may develop when people inhale a fungus called Blastomyces dermatitidis, a fungus that is found in moist soil, particularly where there is rotting vegetation. The fungus enters the body through the lungs, infecting them. The fungus then spreads to other areas of the body. The infection may affect the skin, bones and joints, and other areas. The disease usually affects people with weakened immune systems, such as those with HIV or who have had an organ transplant." 14311,What are the treatments for Dry Eye ?,"Dry eye can be a temporary or ongoing condition, so treatments can be short term or may extend over long periods of time. The goal of treatment is to keep the eyes moist and relieve symptoms. Talk to your doctor to rule out other conditions that can cause dry eye, such as Sjgren's syndrome. You may need to treat these conditions. If dry eye results from taking a medication, your doctor may recommend switching to a medication that does not cause dry eye as a side effect. Here are treatments for dry eye. Medication. Cyclosporine, an anti-inflammatory medication, is a prescription eye drop available to treat certain kinds of dry eye. In people with certain kinds of dry eye, it may decrease damage to the cornea, increase basic tear production, and reduce symptoms of dry eye. It may take three to six months of twice-a-day dosages for the medication to work. Some patients with severe dry eye may need to use corticosteroid eye drops that decrease inflammation under close observation by an eye care professional. Nutritional Supplements. In some patients with dry eye, supplements of omega-3 fatty acids (especially DHA and EPA) may decrease symptoms of irritation. Talk with your eye care professional or your primary medical doctor about whether this is an option for you. Lenses. If dry eye is a result of wearing contact lens for too long, your eye care practitioner may recommend another type of lens or reducing the number of hours you wear your lenses. In the case of severe dry eye, your eye care professional may advise you not to wear contact lenses at all. Punctal plugs. Another option to increase the available tears on the eye surface is to plug the drainage holes, small circular openings at the inner corners of the eyelids where tears drain from the eye into the nose. Lacrimal plugs, also called punctal plugs, can be inserted painlessly by an eye care professional. These plugs are made of silicone or collagen. These plugs can be temporary or permanent. Punctal cautery. In some cases, a simple surgery called punctal cautery is recommended to permanently close the drainage holes. The procedure works similarly to installing punctal plugs, but cannot be reversed." 14322,What is (are) Creating a Family Health History ?,"In a genetic test, a small sample of blood, saliva, or tissue is taken to examine a person's genes. Sometimes, genetic testing can detect diseases that may be preventable or treatable. This type of testing is available for thousands of conditions." 3785,What is (are) VACTERL association ?,"VACTERL association is a disorder that affects many body systems. VACTERL stands for vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. People diagnosed with VACTERL association typically have at least three of these characteristic features. Affected individuals may have additional abnormalities that are not among the characteristic features of VACTERL association. Defects in the bones of the spine (vertebrae) are present in 60 to 80 percent of people with VACTERL association. These defects may include misshapen vertebrae, fused vertebrae, and missing or extra vertebrae. In some people, spinal problems require surgery or cause health problems, such as back pain of varying severity, throughout life. Sixty to 90 percent of individuals with VACTERL association have narrowing or blockage of the anus (anal atresia). Anal atresia may be accompanied by abnormalities of the genitalia and urinary tract (genitourinary anomalies). Heart (cardiac) defects occur in 40 to 80 percent of individuals with VACTERL association. Cardiac defects can range in severity from a life-threatening problem to a subtle defect that does not cause health problems. Fifty to 80 percent of people with VACTERL association have a tracheo-esophageal fistula, which is an abnormal connection (fistula) between the esophagus and the windpipe (trachea). Tracheo-esophageal fistula can cause problems with breathing and feeding early in life and typically requires surgical correction in infancy. Kidney (renal) anomalies occur in 50 to 80 percent of individuals with VACTERL association. Affected individuals may be missing one or both kidneys or have abnormally developed or misshapen kidneys, which can affect kidney function. Limb abnormalities are seen in 40 to 50 percent of people with VACTERL association. These abnormalities most commonly include poorly developed or missing thumbs or underdeveloped forearms and hands. Some of the features of VACTERL association can be subtle and are not identified until late in childhood or adulthood, making diagnosis of this condition difficult." 10919,What is (are) Machado-Joseph Disease ?,"Machado-Joseph disease (MJD), which is also called spinocerebellar ataxia type 3, is a rare hereditary ataxia (ataxia is a medical term meaning lack of muscle control). The disease is characterized by slowly progressive clumsiness and weakness in the arms and legs, spasticity, a staggering lurching gait easily mistaken for drunkenness, difficulty with speech and swallowing, involuntary eye movements, double vision, and frequent urination. Some individuals also have dystonia (sustained muscle contractions that cause twisting of the body and limbs, repetitive movements, abnormal postures, and rigidity) or symptoms similar to those of Parkinson's disease. Others have twitching of the face or tongue, or peculiar bulging eyes. Almost all individuals with MJD experience vision problems, including double vision or blurred vision, loss of the ability to distinguish color and/or contrast, and inability to control eye movements." 13519,What is (are) Transient Ischemic Attack ?,"A transient ischemic attack (TIA) is a stroke that comes and goes quickly. It happens when the blood supply to part of the brain stops briefly. Symptoms of a TIA are like other stroke symptoms, but do not last as long. They happen suddenly, and include - Numbness or weakness, especially on one side of the body - Confusion or trouble speaking or understanding speech - Trouble seeing in one or both eyes - Loss of balance or coordination Most symptoms of a TIA disappear within an hour, although they may last for up to 24 hours. Because you cannot tell if these symptoms are from a TIA or a stroke, you should get to the hospital quickly. TIAs are often a warning sign for future strokes. Taking medicine, such as blood thinners, may reduce your risk of a stroke. Your doctor might also recommend surgery. NIH: National Institute of Neurological Disorders and Stroke" 1300,What is (are) craniofacial microsomia ?,"Craniofacial microsomia is a term used to describe a spectrum of abnormalities that primarily affect the development of the skull (cranium) and face before birth. Microsomia means abnormal smallness of body structures. Most people with craniofacial microsomia have differences in the size and shape of facial structures between the right and left sides of the face (facial asymmetry). In about two-thirds of cases, both sides of the face have abnormalities, which usually differ from one side to the other. Other individuals with craniofacial microsomia are affected on only one side of the face. The facial characteristics in craniofacial microsomia typically include underdevelopment of one side of the upper or lower jaw (maxillary or mandibular hypoplasia), which can cause dental problems and difficulties with feeding and speech. In cases of severe mandibular hypoplasia, breathing may also be affected. People with craniofacial microsomia usually have ear abnormalities affecting one or both ears, typically to different degrees. They may have growths of skin (skin tags) in front of the ear (preauricular tags), an underdeveloped or absent external ear (microtia or anotia), or a closed or absent ear canal; these abnormalities may lead to hearing loss. Eye problems are less common in craniofacial microsomia, but some affected individuals have an unusually small eyeball (microphthalmia) or other eye abnormalities that result in vision loss. Abnormalities in other parts of the body, such as malformed bones of the spine (vertebrae), abnormally shaped kidneys, and heart defects, may also occur in people with craniofacial microsomia. Many other terms have been used for craniofacial microsomia. These other names generally refer to forms of craniofacial microsomia with specific combinations of signs and symptoms, although sometimes they are used interchangeably. Hemifacial microsomia often refers to craniofacial microsomia with maxillary or mandibular hypoplasia. People with hemifacial microsomia and noncancerous (benign) growths in the eye called epibulbar dermoids may be said to have Goldenhar syndrome or oculoauricular dysplasia." 11168,What are the treatments for Frontotemporal Dementia ?,"No treatment has been shown to slow the progression of FTD. Behavior modification may help control unacceptable or dangerous behaviors. Aggressive, agitated, or dangerous behaviors could require medication. Anti-depressants have been shown to improve some symptoms." 4218,Is Marfan syndrome 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. At least 25 percent of Marfan syndrome cases result from a new mutation in the FBN1 gene. These cases occur in people with no history of the disorder in their family." 7813,"What causes Craniometaphyseal dysplasia, autosomal dominant ?","What causes autosomal dominant craniometaphyseal dysplasia? Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the ANKH gene. The ANKH gene provides instructions for making a protein that is present in bone and transports a molecule called pyrophosphate out of cells. Pyrophosphate helps regulate bone formation by preventing mineralization, the process by which minerals such as calcium and phosphorus are deposited in developing bones. The ANKH protein may have other, unknown functions. Mutations in the ANKH gene that cause autosomal dominant craniometaphyseal dysplasia may decrease the ANKH protein's ability to transport pyrophosphate out of cells. Reduced levels of pyrophosphate can increase bone mineralization, contributing to the bone overgrowth seen in craniometaphyseal dysplasia. Why long bones are shaped differently and only the skull bones become thicker in people with this condition remains unclear." 15406,How many people are affected by Urinary Incontinence in Men ?,"Urinary incontinence occurs in 11 to 34 percent of older men. Two to 11 percent of older men report daily UI.1 Although more women than men develop UI, the chances of a man developing UI increase with age because he is more likely to develop prostate problems as he ages. Men are also less likely to speak with a health care professional about UI, so UI in men is probably far more common than statistics show. Having a discussion with a health care professional about UI is the first step to fixing this treatable problem." 1137,What are the genetic changes related to X-linked adrenoleukodystrophy ?,"Mutations in the ABCD1 gene cause X-linked adrenoleukodystrophy. The ABCD1 gene provides instructions for producing the adrenoleukodystrophy protein (ALDP), which is involved in transporting certain fat molecules called very long-chain fatty acids (VLCFAs) into peroxisomes. Peroxisomes are small sacs within cells that process many types of molecules, including VLCFAs. ABCD1 gene mutations result in a shortage (deficiency) of ALDP. When this protein is lacking, the transport and subsequent breakdown of VLCFAs is disrupted, causing abnormally high levels of these fats in the body. The accumulation of VLCFAs may be toxic to the adrenal cortex and myelin. Research suggests that the accumulation of VLCFAs triggers an inflammatory response in the brain, which could lead to the breakdown of myelin. The destruction of these tissues leads to the signs and symptoms of X-linked adrenoleukodystrophy." 12918,What is (are) Heart Valve Disease ?,"Heart valve disease occurs if one or more of your heart valves don't work well. The heart has four valves: the tricuspid, pulmonary, mitral,and aortic valves. These valves have tissue flaps that open and close with each heartbeat. The flaps make sure blood flows in the right direction through your heart's four chambers and to the rest of your body. Healthy Heart Cross-Section Birth defects, age-related changes, infections, or other conditions can cause one or more of your heart valves to not open fully or to let blood leak back into the heart chambers. This can make your heart work harder and affect its ability to pump blood. Overview How the Heart Valves Work At the start of each heartbeat, blood returning from the body and lungs fills the atria (the heart's two upper chambers). The mitral and tricuspid valves are located at the bottom of these chambers. As the blood builds up in the atria, these valves open to allow blood to flow into the ventricles (the heart's two lower chambers). After a brief delay, as the ventricles begin to contract, the mitral and tricuspid valves shut tightly. This prevents blood from flowing back into the atria. As the ventricles contract, they pump blood through the pulmonary and aortic valves. The pulmonary valve opens to allow blood to flow from the right ventricle into the pulmonary artery. This artery carries blood to the lungs to get oxygen. At the same time, the aortic valve opens to allow blood to flow from the left ventricle into the aorta. The aorta carries oxygen-rich blood to the body. As the ventricles relax, the pulmonary and aortic valves shut tightly. This prevents blood from flowing back into the ventricles. For more information about how the heart pumps blood and detailed animations, go to the Health Topics How the Heart Works article. Heart Valve Problems Heart valves can have three basic kinds of problems: regurgitation, stenosis, and atresia. Regurgitation, or backflow, occurs if a valve doesn't close tightly. Blood leaks back into the chambers rather than flowing forward through the heart or into an artery. In the United States, backflow most often is due to prolapse. ""Prolapse"" is when the flaps of the valve flop or bulge back into an upper heart chamber during a heartbeat. Prolapse mainly affects the mitral valve. Stenosis occurs if the flaps of a valve thicken, stiffen, or fuse together. This prevents the heart valve from fully opening. As a result, not enough blood flows through the valve. Some valves can have both stenosis and backflow problems. Atresia occurs if a heart valve lacks an opening for blood to pass through. Some people are born with heart valve disease, while others acquire it later in life. Heart valve disease that develops before birth is called congenitalheart valve disease. Congenital heart valve disease can occur alone or with other congenital heart defects. Congenital heart valve disease often involves pulmonary or aortic valves that don't form properly. These valves may not have enough tissue flaps, they may be the wrong size or shape, or they may lack an opening through which blood can flow properly. Acquired heart valve disease usually involves aortic or mitral valves. Although the valves are normal at first, problems develop over time. Both congenital and acquired heart valve disease can cause stenosis or backflow. Outlook Many people have heart valve defects or disease but don't have symptoms. For some people, the condition mostly stays the same throughout their lives and doesn't cause any problems. For other people, heart valve disease slowly worsens until symptoms develop. If not treated, advanced heart valve disease can cause heart failure, stroke, blood clots, or death due to sudden cardiac arrest (SCA). Currently, no medicines can cure heart valve disease. However, lifestyle changes and medicines can relieve many of its symptoms and complications. These treatments also can lower your risk of developing a life-threatening condition, such as stroke or SCA. Eventually, you may need to have your faulty heart valve repaired or replaced. Some types of congenital heart valve disease are so severe that the valve is repaired or replaced during infancy, childhood, or even before birth. Other types may not cause problems until middle-age or older, if at all." 14129,What is (are) Self-harm ?,"Self-harm refers to a person's harming their own body on purpose. About 1 in 100 people hurts himself or herself in this way. More females hurt themselves than males. A person who self-harms usually does not mean to kill himself or herself. But they are at higher risk of attempting suicide if they do not get help. Self-harm tends to begin in teen or early adult years. Some people may engage in self-harm a few times and then stop. Others engage in it more often and have trouble stopping. Examples of self-harm include - Cutting yourself (such as using a razor blade, knife, or other sharp object to cut the skin) - Punching yourself or punching things (like a wall) - Burning yourself with cigarettes, matches, or candles - Pulling out your hair - Poking objects through body openings - Breaking your bones or bruising yourself Many people cut themselves because it gives them a sense of relief. Some people use cutting as a means to cope with a problem. Some teens say that when they hurt themselves, they are trying to stop feeling lonely, angry, or hopeless. It is possible to overcome the urge to hurt yourself. There are other ways to find relief and cope with your emotions. Counseling may help. Dept. of Health and Human Services, Office on Women's Health" 9181,"What are the symptoms of Frontotemporal dementia, ubiquitin-positive ?","What are the signs and symptoms of Frontotemporal dementia, ubiquitin-positive? The Human Phenotype Ontology provides the following list of signs and symptoms for Frontotemporal dementia, ubiquitin-positive. 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) Agitation - Apathy - Aphasia - Apraxia - Autosomal dominant inheritance - Cerebral cortical atrophy - Dilation of lateral ventricles - Disinhibition - Dysphasia - Frontotemporal dementia - Gliosis - Hallucinations - Hyperorality - Hypersexuality - Memory impairment - Mutism - Neuronal loss in central nervous system - Parkinsonism - Perseveration - Personality changes - Polyphagia - Progressive language deterioration - Repetitive compulsive behavior - 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." 14499,What are the symptoms of Rheumatoid Arthritis ?,"Rheumatoid arthritis is characterized by inflammation of the joint lining. This inflammation causes warmth, redness, swelling, and pain around the joints. The pain of rheumatoid arthritis varies greatly from person to person, for reasons that doctors do not yet understand completely. Factors that contribute to the pain include swelling within the joint, the amount of heat or redness present, or damage that has occurred within the joint." 13460,What is (are) Bereavement ?,"Bereavement is the period of grief and mourning after a death. When you grieve, it's part of the normal process of reacting to a loss. You may experience grief as a mental, physical, social or emotional reaction. Mental reactions can include anger, guilt, anxiety, sadness and despair. Physical reactions can include sleeping problems, changes in appetite, physical problems or illness. How long bereavement lasts can depend on how close you were to the person who died, if the person's death was expected and other factors. Friends, family and faith may be sources of support. Grief counseling or grief therapy is also helpful to some people. NIH: National Cancer Institute" 8169,What are the symptoms of SCARF syndrome ?,"What are the signs and symptoms of SCARF syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for SCARF 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 palate 90% Aplasia/Hypoplasia of the abdominal wall musculature 90% Aplasia/Hypoplasia of the nipples 90% Cognitive impairment 90% Craniosynostosis 90% Displacement of the external urethral meatus 90% Hyperextensible skin 90% Hypoplasia of penis 90% Joint hypermobility 90% Long philtrum 90% Prominent nasal bridge 90% Short neck 90% Thickened nuchal skin fold 90% Umbilical hernia 90% Abnormal form of the vertebral bodies 50% Abnormal hair quantity 50% Abnormality of dental enamel 50% Deep philtrum 50% Enlarged thorax 50% Epicanthus 50% Hepatomegaly 50% Low-set, posteriorly rotated ears 50% Pectus carinatum 50% Ptosis 50% Barrel-shaped chest - Bifid scrotum - Coronal craniosynostosis - Cryptorchidism - Cutis laxa - Diastasis recti - Hypoplasia of dental enamel - Hypoplastic nipples - Inguinal hernia - Intellectual disability - Lambdoidal craniosynostosis - Low anterior hairline - Low posterior hairline - Low-set ears - Micropenis - Perineal hypospadias - Posteriorly rotated ears - Short chin - Short sternum - Sparse hair - Strabismus - Webbed neck - Wide intermamillary distance - Wide nasal bridge - X-linked recessive 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." 7315,What are the symptoms of Gastroschisis ?,"What are the signs and symptoms of Gastroschisis? The Human Phenotype Ontology provides the following list of signs and symptoms for Gastroschisis. 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) Gastroschisis 90% Abnormality of the mesentery 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." 383,Is osteoglophonic dysplasia 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. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. However, some affected individuals inherit the mutation from an affected parent." 538,Is Lynch syndrome inherited ?,"Lynch syndrome cancer risk is inherited in an autosomal dominant pattern, which means one inherited copy of the altered gene in each cell is sufficient to increase cancer risk. It is important to note that people inherit an increased risk of cancer, not the disease itself. Not all people who inherit mutations in these genes will develop cancer." 4794,What are the treatments for Pallister-Killian mosaic syndrome ?,These resources address the diagnosis or management of Pallister-Killian mosaic syndrome: - Genetic Testing Registry: Pallister-Killian syndrome - MedlinePlus Encyclopedia: Chromosome - MedlinePlus Encyclopedia: Mosaicism 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 9699,What are the treatments for Pyoderma gangrenosum ?,"How might pyoderma gangrenosum be treated? Although antibiotics are often prescribed prior to having a correct diagnosis (and may be continued if there is a secondary infection or surrounding cellulitis), antibiotics are generally not helpful for treating uncomplicated cases of pyoderma gangrenosum (PG). The best documented treatments for PG are systemic corticosteroids and cyclosporin A. Smaller ulcers may be treated with strong topical steroid creams, steroid injections, special dressings, oral anti-inflammatory antibiotics, and/or other therapies. More severe PG typically requires immunosuppressive therapy (used to decrease the body's immune responses). Combinations of steroids with cytotoxic drugs may be used in resistant cases. There has reportedly been rapid improvement of PG with use of anti-tumor necrosis alpha therapy (such as infliximab), which is also used to treat Crohn's disease and other conditions. Skin transplants and/or the application of bioengineered skin is useful in selected cases as a complementary therapy to immunosuppressive treatment. The use of modern wound dressings is helpful to minimize pain and the risk of secondary infections. Treatment for PG generally does not involve surgery because it can result in enlargement of the ulcer; however, necrotic tissue (dying or dead tissue) should be gently removed. More detailed information about the treatment of pyoderma gangrenosum is available on eMedicine's Web site and can be viewed by clicking here." 8604,What is (are) Pseudohypoaldosteronism type 2 ?,"Psuedohypoaldosteronism type 2 is an inborn error of metabolism. It is characterized by high blood pressure, high levels of potassium in the body, and metabolic acidosis. It is caused by mutations in the WNK1 or WNK4 gene. Treatment may involve dietary restriction of sodium and hydrochlorothiazide." 871,How many people are affected by prolidase deficiency ?,"Prolidase deficiency is a rare disorder. Approximately 70 individuals with this disorder have been documented in the medical literature, and researchers have estimated that the condition occurs in approximately 1 in 1 million to 1 in 2 million newborns. It is more common in certain areas in northern Israel, both among members of a religious minority called the Druze and in nearby Arab Moslem populations." 14655,What causes Problems with Smell ?,"In rare cases, certain medicines such as antibiotics or antihistamines may cause a change in your ability to smell. If you are taking these medications and notice a change in your sense of smell, talk to your doctor. You may be able to adjust or change your medicine to one that will not cause a problem with smell." 9464,How to diagnose Stiff person syndrome ?,"Is genetic testing available for stiff person syndrome? Genetic testing is not available for stiff person syndrome, as the underlying genetic cause (if any) has not yet been established. How is stiff person syndrome diagnosed? A diagnosis of stiff person syndrome (SPS) is typically made based on the presence of the characteristic symptoms, a detailed medical history, a thorough clinical exam, and various tests. Specific tests are used to support or confirm the diagnosis, and to rule out conditions with overlapping symptoms. These tests may include screening tests to detect antibodies against glutamic acid decarboxylase (GAD) and amphiphysin, and an electromyography (EMG) which records electrical activity in skeletal muscles. About 60% to 80% of affected people have autoantibodies against GAD. Although the absence of GAD antibodies does not rule out SPS, the presence of high levels of GAD antibodies in appropriate people strongly supports the diagnosis. An EMG typically shows continuous motor activity, which is characteristic of SPS. Very high levels of GAD antibodies and characteristic EMG findings will confirm the diagnosis in the majority of people with SPS. Additional laboratory testing may also be used to support a diagnosis of SPS, such as hemoglobin A1C (due to association with diabetes mellitus); complete blood count (due to association with pernicious anemia); comprehensive metabolic profile; and thyroid-stimulating hormone (due to association with thyroiditis). Lumbar puncture should be obtained in people with symptoms consistent with SPS to rule out other causes. Oligoclonal bands can be seen in about two thirds of affected people who are antibody-positive." 4517,What are the genetic changes related to familial atrial fibrillation ?,"A small percentage of all cases of familial atrial fibrillation are associated with changes in the KCNE2, KCNJ2, and KCNQ1 genes. These genes provide instructions for making proteins that act as channels across the cell membrane. These channels transport positively charged atoms (ions) of potassium into and out of cells. In heart (cardiac) muscle, the ion channels produced from the KCNE2, KCNJ2, and KCNQ1 genes play critical roles in maintaining the heart's normal rhythm. Mutations in these genes have been identified in only a few families worldwide. These mutations increase the activity of the channels, which changes the flow of potassium ions between cells. This disruption in ion transport alters the way the heart beats, increasing the risk of syncope, stroke, and sudden death. Most cases of atrial fibrillation are not caused by mutations in a single gene. This condition is often related to structural abnormalities of the heart or underlying heart disease. Additional risk factors for atrial fibrillation include high blood pressure (hypertension), diabetes mellitus, a previous stroke, or an accumulation of fatty deposits and scar-like tissue in the lining of the arteries (atherosclerosis). Although most cases of atrial fibrillation are not known to run in families, studies suggest that they may arise partly from genetic risk factors. Researchers are working to determine which genetic changes may influence the risk of atrial fibrillation." 13372,What is (are) Small Intestine Disorders ?,"Your small intestine is the longest part of your digestive system - about twenty feet long! It connects your stomach to your large intestine (or colon) and folds many times to fit inside your abdomen. Your small intestine does most of the digesting of the foods you eat. It has three areas called the duodenum, the ileum, and the jejunum. Problems with the small intestine can include: - Bleeding - Celiac disease - Crohn's disease - Infections - Intestinal cancer - Intestinal obstruction - Irritable bowel syndrome - Ulcers, such as peptic ulcer Treatment of disorders of the small intestine depends on the cause."