umarjan11/Medical-qna huggingface dataset:
Question: What are the treatments for Autoimmune hepatitis ?

Answer: How might autoimmune hepatitis be treated? Some people with mild forms of autoimmune hepatitis may not need to take medication. Doctors assess each patient individually to determine whether those with mild autoimmune hepatitis should undergo treatment. Treatment works best when autoimmune hepatitis is diagnosed early. With proper treatment, autoimmune hepatitis can usually be controlled. In fact, studies show that sustained response to treatment stops the disease from getting worse and may reverse some of the damage. The primary treatment is medicine to suppress, or slow down, an overactive immune system. Prednisone or other corticosteroids help reduce the inflammation. Azathioprine and mercaptopurine are drugs used to treat other autoimmune disorders, which have shown to help patients with autoimmune hepatitis as well. In about seven out of 10 people, the disease goes into remission within 3 years of starting treatment. Remission occurs when symptoms disappear and lab tests show improvement in liver function. Some people can eventually stop treatment, although many will see the disease return. People who stop treatment must carefully monitor their condition and promptly report any new symptoms to their doctor. Treatment with low doses of prednisone or azathioprine may be necessary on and off for years, if not for life. People who do not respond to standard immune therapy or who have severe side effects may benefit from other immunosuppressive agents such as mycophenylate mofetil, cyclosporine, or tacrolimus. People who progress to end-stage liver diseasealso called liver failureor cirrhosis may need a liver transplant. Transplantation has a 1-year survival rate of 90 percent and a 5-year survival rate of 70 to 80 percent.
Question: What causes Congenital adrenal hyperplasia ?

Answer: What causes congenital adrenal hyperplasia? Congenital adrenal hyperplasia (CAH) is a group of genetic conditions that can be caused by a change (mutation) in several different genes: 21-hydroxylase deficiency is caused by mutations in the CYP21A2 gene 3-beta-hydroxysteroid dehydrogenase deficiency is caused by mutations in the HSD3B2 gene 11-beta-hydroxylase deficiency is caused by mutations in the CYP11B1 gene Cytochrome P450 oxidoreductase deficiency is caused by mutations in the POR gene 17-hydroxylase deficiency is caused by mutations in the CYP17A1 gene Congenital lipoid adrenal hyperplasia is caused by mutations in the STAR gene Most of these genes encode enzymes that the adrenal glands need to make one or more hormones. The adrenal glands are cone-shaped organs that sit on top of the kidneys and are responsible for releasing various types of hormones that the body needs to function. Mutations in these genes lead to deficient levels of enzymes which cause low levels of hormones such as cortisol and/or aldosterone and an overproduction of androgens (male hormones such as testosterone). Cortisol is a hormone that affects energy levels, blood sugar levels, blood pressure, and the body's response to stress, illness, and injury. Aldosterone helps the body maintain the proper level of sodium (salt) and water and helps maintain blood pressure. Irregular levels of these hormones lead to the signs and symptoms of CAH.
Question: What are the symptoms of Blue cone monochromatism ?

Answer: What are the signs and symptoms of Blue cone monochromatism? The Human Phenotype Ontology provides the following list of signs and symptoms for Blue cone monochromatism. 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) Nystagmus 75% Abnormal electroretinogram 7.5% Abnormality of color vision 7.5% Abnormality of macular pigmentation 7.5% Abnormality of retinal pigmentation 7.5% Corneal dystrophy 7.5% Photophobia 7.5% Visual impairment 7.5% Blue cone monochromacy - Myopia - Reduced visual acuity - 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.
Question: What are the symptoms of ITCH E3 ubiquitin ligase deficiency ?

Answer: What are the signs and symptoms of ITCH E3 ubiquitin ligase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for ITCH E3 ubiquitin ligase deficiency. 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) Chronic diarrhea 5% Abnormal facial shape - Autoimmunity - Autosomal recessive inheritance - Camptodactyly - Clinodactyly - Dolichocephaly - Frontal bossing - Hepatomegaly - Low-set ears - Posteriorly rotated ears - Prominent occiput - Proptosis - Relative macrocephaly - Short chin - Splenomegaly - 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.
Question: What causes Varicose Veins ?

Answer: Weak or damaged valves in the veins can cause varicose veins. After your arteries and capillaries deliver oxygen-rich blood to your body, your veins return the blood to your heart. The veins in your legs must work against gravity to do this.
                
One-way valves inside the veins open to let blood flow through, and then they shut to keep blood from flowing backward. If the valves are weak or damaged, blood can back up and pool in your veins. This causes the veins to swell.
                
Weak vein walls may cause weak valves. Normally, the walls of the veins are elastic (stretchy). If these walls become weak, they lose their normal elasticity. They become like an overstretched rubber band. This makes the walls of the veins longer and wider, and it causes the flaps of the valves to separate.
                
When the valve flaps separate, blood can flow backward through the valves. The backflow of blood fills the veins and stretches the walls even more. As a result, the veins get bigger, swell, and often twist as they try to squeeze into their normal space. These are varicose veins.
                
Normal Vein and Varicose Vein
                

                
Figure A shows a normal vein with a working valve and normal blood flow. Figure B shows a varicose vein with a deformed valve, abnormal blood flow, and thin, stretched walls. The middle image shows where varicose veins might appear in a leg.
                
Older age or a family history of varicose veins may raise your risk for weak vein walls. You also may be at higher risk if you have increased pressure in your veins due to overweight or obesity or pregnancy.
Question: What is (are) hereditary multiple osteochondromas ?

Answer: Hereditary multiple osteochondromas is a condition in which people develop multiple benign (noncancerous) bone tumors called osteochondromas. The number of osteochondromas and the bones on which they are located vary greatly among affected individuals. The osteochondromas are not present at birth, but approximately 96 percent of affected people develop multiple osteochondromas by the time they are 12 years old. Osteochondromas typically form at the end of long bones and on flat bones such as the hip and shoulder blade. Once people with hereditary multiple osteochondromas reach adult height and their bones stop growing, the development of new osteochondromas also usually stops.  Multiple osteochondromas can disrupt bone growth and can cause growth disturbances of the arms, hands, and legs, leading to short stature. Often these problems with bone growth do not affect the right and left limb equally, resulting in uneven limb lengths (limb length discrepancy). Bowing of the forearm or ankle and abnormal development of the hip joints (hip dysplasia) caused by osteochondromas can lead to difficulty walking and general discomfort. Multiple osteochondromas may also result in pain, limited range of joint movement, and pressure on nerves, blood vessels, the spinal cord, and tissues surrounding the osteochondromas.  Osteochondromas are typically benign; however, in some instances these tumors become malignant (cancerous). Researchers estimate that people with hereditary multiple osteochondromas have a 1 in 20 to 1 in 200 lifetime risk of developing cancerous osteochondromas (called sarcomas).
Question: What are the genetic changes related to renal hypouricemia ?

Answer: Mutations in the SLC22A12 or SLC2A9 gene cause renal hypouricemia. These genes provide instructions for making proteins called urate transporter 1 (URAT1) and glucose transporter 9 (GLUT9), respectively. These proteins are found in the kidneys, specifically in structures called proximal tubules. These structures help to reabsorb needed nutrients, water, and other materials into the blood and excrete unneeded substances into the urine. Within the proximal tubules, both the URAT1 and GLUT9 proteins reabsorb uric acid into the bloodstream or release it into the urine, depending on the body's needs. Most uric acid that is filtered through the kidneys is reabsorbed into the bloodstream; about 10 percent is released into urine.  Mutations that cause renal hypouricemia lead to the production of URAT1 or GLUT9 protein with a reduced ability to reabsorb uric acid into the bloodstream. Instead, large amounts of uric acid are released in the urine. The specific cause of the signs and symptoms of renal hypouricemia is unclear. Researchers suspect that when additional uric acid is produced during exercise and passed through the kidneys, it could lead to tissue damage. Alternatively, without the antioxidant properties of uric acid, free radicals could cause tissue damage in the kidneys. Another possibility is that other substances are prevented from being reabsorbed along with uric acid; accumulation of these substances in the kidneys could cause tissue damage. It is likely that individuals with renal hypouricemia who have mild or no symptoms have enough protein function to reabsorb a sufficient amount of uric acid into the bloodstream to prevent severe kidney problems.
Question: What is (are) Lowe syndrome ?

Answer: Lowe syndrome is a condition that primarily affects the eyes, brain, and kidneys. This disorder occurs almost exclusively in males.  Infants with Lowe syndrome are born with thick clouding of the lenses in both eyes (congenital cataracts), often with other eye abnormalities that can impair vision. About half of affected infants develop an eye disease called infantile glaucoma, which is characterized by increased pressure within the eyes.  Many individuals with Lowe syndrome have delayed development, and intellectual ability ranges from normal to severely impaired. Behavioral problems and seizures have also been reported in children with this condition. Most affected children have weak muscle tone from birth (neonatal hypotonia), which can contribute to feeding difficulties, problems with breathing, and delayed development of motor skills such as sitting, standing, and walking.  Kidney (renal) abnormalities, most commonly a condition known as renal Fanconi syndrome, frequently develop in individuals with Lowe syndrome. The kidneys play an essential role in maintaining the right amounts of minerals, salts, water, and other substances in the body. In individuals with renal Fanconi syndrome, the kidneys are unable to reabsorb important nutrients into the bloodstream. Instead, the nutrients are excreted in the urine. These kidney problems lead to increased urination, dehydration, and abnormally acidic blood (metabolic acidosis). A loss of salts and nutrients may also impair growth and result in soft, bowed bones (hypophosphatemic rickets), especially in the legs. Progressive kidney problems in older children and adults with Lowe syndrome can lead to life-threatening renal failure and end-stage renal disease (ESRD).
Question: What is (are) Medicare and Continuing Care ?

Answer: Medicare Part B is medical insurance. It helps cover medical services such as doctor's services, outpatient care and other medical services that Part A doesn't cover. Part B also covers some preventive services, such as flu shots and diabetes screening, to help you maintain your health and to keep certain illnesses from getting worse. Enrollment in Part B is optional, and most people who choose it must pay a monthly fee, or premium. There may be a late enrollment penalty for Part B if the person doesn't join when he or she is first eligible. For important information about Part B, visit http://www.medicare.gov to view or print copies of "Your Medicare Benefits" or "Medicare & You." (Under "Search Tools," select "Find a Medicare Publication.") You can also contact your State Health Insurance Assistance Program (SHIP) which gives free health insurance counseling and guidance to people with Medicare -- or to family and friends who have authorization to help someone with Medicare questions. To get the most up-to-date telephone numbers, call 1-800-Medicare (1-800-633-4227) or visit http://www.medicare.gov. (TTY users should call 1-877-486-2048.) Under "Search Tools," select "Find Helpful Phone Numbers and Websites." To sign up for Medicare Part B, call Social Security at 1-800-772-1213. TTY users should call 1-800-325-0778. If you are getting benefits from the Railroad Retirement Board, call your local RRB office or 1-800-808-0772.
Question: What are the symptoms of Immune dysfunction with T-cell inactivation due to calcium entry defect 2 ?

Answer: What are the signs and symptoms of Immune dysfunction with T-cell inactivation due to calcium entry defect 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Immune dysfunction with T-cell inactivation due to calcium entry defect 2. 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) Autoimmune hemolytic anemia - Autosomal recessive inheritance - Episodic fever - Hypoplasia of the iris - Immunodeficiency - Lymphadenopathy - Muscular hypotonia - Myopathy - Recurrent bacterial infections - Thrombocytopenia - 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.
Question: Is Dopa-responsive dystonia inherited ?

Answer: How is dopa-responsive dystonia inherited? Depending on the genetic cause of dopa-responsive dystonia (DRD), it may be inherited in an autosomal dominant or autosomal recessive manner. When DRD is caused by mutations in the GCH1 gene, it is inherited in an autosomal dominant manner. This means that having a mutation in only one of the 2 copies of the gene is enough to cause signs and symptoms of the disorder. In some cases, an affected person inherits the mutation from an affected parent; other cases result from having a new (de novo) mutation in the gene. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated gene. Some people who inherit a mutated GCH1 gene never develop features of DRD; this phenomenon is known as reduced penetrance. When DRD is caused by mutations in the TH gene, it is inherited in an autosomal recessive manner. This means that a person must have mutations in both of their copies of the gene to be affected. The parents of a person with an autosomal recessive condition usually each carry one copy of the mutated gene and are referred to as carriers. Carriers typically do not have signs or symptoms. When parents who are both carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to be affected, a 50% chance to be an unaffected carrier like each parent, and a 25% chance to be unaffected and not be a carrier. When DRD is caused by mutations in the SPR gene, it can be inherited in an autosomal recessive or autosomal dominant manner.
Question: What are the symptoms of Muscular dystrophy white matter spongiosis ?

Answer: What are the signs and symptoms of Muscular dystrophy white matter spongiosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Muscular dystrophy white matter spongiosis. 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% Cognitive impairment 90% EMG abnormality 90% Facial palsy 90% Macrocephaly 90% Muscular hypotonia 90% Myotonia 90% Narrow face 90% Seizures 90% Skeletal muscle atrophy 90% Respiratory insufficiency 50% 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.
Question: What is (are) Chronic fatigue syndrome ?

Answer: Chronic fatigue syndrome, also known as systemic exertion intolerance disease, is a condition that causes extreme, long-lasting fatigue which can limit the ability to participate in ordinary, daily activities.  It generally occurs in young adults between the ages of 20 and 40 and is twice as common in women. The main symptom is disabling fatigue that does not improve with rest. Other signs and symptoms may include muscle pain; joint pain; concentration and memory problems; headaches; sleep problems; fever; sore throat; and/or tender lymph nodes. The cause of chronic fatigue syndrome is not known yet. Some researchers have proposed that this condition is caused by viral infections or by immunological, hormonal or mental or psychiatric problems, but none have been proved. It is also believed that there may be a genetic predisposition for this condition and stress-related events act as triggers. Because the symptoms are similar to many conditions that need to be ruled out, the diagnosis make take some time to be made and patients are frequently misunderstood. Those who are affected are typically highly functioning individuals who are "struck down" with this disease. There is still no cure for this condition but there are several clinical trials. Current treatment consists of cognitive and/or behavioral therapy and focuses on improving symptoms and may include medications to treat pain, sleep disorders and other associated problems. There is significant controversy and debate in the medical literature about the relationship between myalgic encephalomyelitis and chronic fatigue syndrome. Unfortunately there is no consensus on nomenclature or classification for these disorders, and different countries, organizations, and researchers continue to use different names to describe these conditions. Until a global consensus is reached on how to name and classify these disorders, confusion will persist.
Question: What are the symptoms of Long QT syndrome ?

Answer: What are the signs and symptoms of Long QT syndrome? Signs and symptoms of the arrhythmias experienced by people with long QT syndrome includes unexplained fainting, seizures, drowning or near drowning, and sudden cardiac arrest or death. You can read more about these and other symptoms of long QT syndrome on the National Heart Lung and Blood Institute's Web site by clicking here. The Human Phenotype Ontology provides the following list of signs and symptoms for Long QT 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) Arrhythmia 90% Sensorineural hearing impairment 90% Abdominal situs inversus 7.5% Anemia 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.