umarjan11/Medical-qna huggingface dataset:
Question: What are the treatments for autosomal recessive congenital methemoglobinemia ?

Answer: These resources address the diagnosis or management of autosomal recessive congenital methemoglobinemia:  - Genetic Testing Registry: METHEMOGLOBINEMIA, TYPE I  - Genetic Testing Registry: Methemoglobinemia type 2  - KidsHealth from Nemours: Blood Test: Hemoglobin  - MedlinePlus Encyclopedia: Hemoglobin  - MedlinePlus Encyclopedia: Methemoglobinemia   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
Question: Is familial adenomatous polyposis inherited ?

Answer: Familial adenomatous polyposis can have different inheritance patterns.  When familial adenomatous polyposis results from mutations in the APC gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person has one parent with the condition.  When familial adenomatous polyposis results from mutations in the MUTYH gene, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.
Question: What are the genetic changes related to X-linked infantile nystagmus ?

Answer: Mutations in the FRMD7 gene cause X-linked infantile nystagmus. The FRMD7 gene provides instructions for making a protein whose exact function is unknown. This protein is found mostly in areas of the brain that control eye movement and in the light-sensitive tissue at the back of the eye (retina). Research suggests that FRMD7 gene mutations cause nystagmus by disrupting the development of certain nerve cells in the brain and retina.  In some people with X-linked infantile nystagmus, no mutation in the FRMD7 gene has been found. 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.
Question: What to do for Renal Tubular Acidosis ?

Answer: - Renal tubular acidosis (RTA) is a disease that occurs when the kidneys fail to excrete acids into the urine, which causes a person's blood to remain too acidic.  - Without proper treatment, chronic acidity of the blood leads to growth retardation, kidney stones, bone disease, chronic kidney disease, and possibly total kidney failure.  - If RTA is suspected, additional information about the sodium, potassium, and chloride levels in the urine and the potassium level in the blood will help identify which type of RTA a person has.  - In all cases, the first goal of therapy is to neutralize acid in the blood, but different treatments may be needed to address the different underlying causes of acidosis.
Question: What are the symptoms of Dermatitis Herpetiformis: Skin Manifestation of Celiac Disease (For Health Care Professionals) ?

Answer: Dermatitis herpetiformis is characterized by small, clustered papules and vesicles that erupt symmetrically on the elbows, knees, buttocks, back, or scalp. The face and groin can also be involved. A burning sensation may precede lesion formation. Lesions are usually scratched off by the time a patient comes in for a physical exam, and the rash may appear as erosions and excoriations.
                
Patients with DH may also experience dental enamel defects to permanent teeth, which is another manifestation of celiac disease. Less than 20 percent of people with DH have symptoms of celiac disease.3
Question: Who is at risk for Osteoporosis? ?

Answer: The more likely you are to fall, the higher your risk for a fracture. And more severe falls increase your risk for fractures. Factors that increase your risk of falling and of fracturing a bone include - decreased muscle strength   - poor balance  -  impaired eyesight  - impaired mental abilities   - certain medications, such as tranquilizers and muscle relaxants  - hazardous elements in your living environment, such as slippery throw rugs and icy sidewalks.  decreased muscle strength poor balance impaired eyesight impaired mental abilities certain medications, such as tranquilizers and muscle relaxants hazardous elements in your living environment, such as slippery throw rugs and icy sidewalks.
Question: what research (or clinical trials) is being done for Alzheimer's Disease ?

Answer: Clinical research is medical research involving people. It includes clinical studies, which observe and gather information about large groups of people. It also includes clinical trials, which test a medicine, therapy, medical device, or intervention in people to see if it is safe and effective. Clinical trials are the best way to find out whether a particular intervention actually slows, delays, or prevents Alzheimers disease. Trials may compare a potential new treatment with a standard treatment or placebo (mock treatment). Or, they may study whether a certain behavior or condition affects the progress of Alzheimers or the chances of developing it. See the latest Alzheimers Disease Progress Report to read about results of NIA-supported Alzheimers research.
Question: What is (are) Creating a Family Health History ?

Answer: Your relatives will probably want to know why you want information about their health. You can explain that knowing what diseases run in the family can help family members take steps to lower their risk. These steps might include certain lifestyle changes, medical tests, or choices of medicines to take. Offer to share your health history when it is done. Encourage relatives to create their own health histories. It's important to find the right time to talk about family health. Family get-togethers like holidays, vacations, and reunions might be good opportunities. Some people may prefer to share health information privately, in person or by telephone. You can also contact family members by mail or e-mail. Be sure to take notes or record the conversations with a tape recorder or video camera to help you remember.
Question: What is the outlook for Paranasal Sinus and Nasal Cavity Cancer ?

Answer: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following:         - Where the tumor is in the paranasal sinus or nasal cavity and whether it has spread.    - The size of the tumor.    - The type of cancer.    - The patient's age and general health.    - Whether the cancer has just been diagnosed or has recurred (come back).        Paranasal sinus and nasal cavity cancers often have spread by the time they are diagnosed and are hard to cure. After treatment, a lifetime of frequent and careful follow-up is important because there is an increased risk of developing a second kind of cancer in the head or neck.
Question: What is (are) Anxiety ?

Answer: Fear and anxiety are part of life. You may feel anxious before you take a test or walk down a dark street. This kind of anxiety is useful - it can make you more alert or careful. It usually ends soon after you are out of the situation that caused it. But for millions of people in the United States, the anxiety does not go away, and gets worse over time. They may have chest pains or nightmares. They may even be afraid to leave home. These people have anxiety disorders. Types include       - Panic disorder     - Obsessive-compulsive disorder     - Post-traumatic stress disorder     - Phobias     - Generalized anxiety disorder        Treatment can involve medicines, therapy or both.    NIH: National Institute of Mental Health
Question: What is (are) Clear cell renal cell carcinoma ?

Answer: Clear cell renal cell carcinoma is a cancer of the kidney.  The name "clear cell" refers to the appearance of the cancer cells when viewed with a microscope.[5258]  Clear cell renal cell carcinoma occurs when cells in the kidney quickly increase in number, creating a lump (mass).  Though the exact cause of clear cell renal cell carcinoma is unknown, smoking, the excessive use of certain medications, and several genetic predisposition conditions (such as von Hippel Lindau syndrome) may contribute to the development of this type of cancer.  Treatment often begins with surgery to remove as much of the cancer as possible, and may be followed by radiation therapy, chemotherapy, biological therapy, or targeted therapy.
Question: What is (are) L-arginine:glycine amidinotransferase deficiency ?

Answer: L-arginine:glycine amidinotransferase (AGAT) deficiency is a rare condition that primarily affects the brain. People with AGAT deficiency generally have mild to moderate intellectual disability. Other signs and symptoms may include seizures, delayed language development, muscle weakness, failure to thrive, autistic behaviors, and delayed motor milestones (i.e. walking, sitting). AGAT deficiency is caused by changes (mutations) in the GATM gene and is inherited in an autosomal recessive manner. Treatment of AGAT deficiency is focused on increasing cerebral creatine levels and generally consists of supplementation with creatine monohydrate.
Question: Is Autoimmune atrophic gastritis inherited ?

Answer: Is autoimmune atrophic gastritis inherited? In some cases, more than one family member can be affected by autoimmune atrophic gastritis. Although the underlying genetic cause has not been identified, studies suggest that the condition may be inherited in an autosomal dominant manner in these families. In autosomal dominant conditions, an affected person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with the condition has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
Question: What causes Citrullinemia type I ?

Answer: What causes citrullinemia type I? Citrullinemia type I is caused by mutations in the ASS1 gene. This gene provides instructions for making an enzyme, argininosuccinate synthetase 1, that is responsible for the third step in the urea cycle. Mutations in the ASS1 gene reduce the activity of the enzyme, which disrupts the urea cycle and prevents the body from processing nitrogen effectively. Excess nitrogen (in the form of ammonia) and other byproducts of the urea cycle accumulate in the bloodstream. Ammonia is particularly toxic to the nervous system, which helps explain the neurologic symptoms (such as lethargy, seizures, and ataxia) that are often seen in this condition.
Question: What is (are) Barber Say syndrome ?

Answer: Barber Say syndrome is a very rare condition characterized by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It has been described in less than 20 patients in the medical literature. Barber Say syndrome has a variable presentation, with reports of both mild and severe cases. Inheritance has been debated, with qualities suggestive of autosomal dominant and autosomal recessive. A recent study suggests that at least some cases of Barber Say syndrome are caused by dominant mutations in the TWIST2 gene. Treatment remains a challenge for both patients and doctors, and requires a multidisciplinary approach.
Question: What is (are) Friedreich ataxia ?

Answer: Friedreich ataxia is an inherited condition that affects the nervous system and causes movement problems. People with this condition develop impaired muscle coordination (ataxia) that worsens over time. Other features include the gradual loss of strength and sensation in the arms and legs, muscle stiffness (spasticity), and impaired speech. Many individuals have a form of heart disease called hypertrophic cardiomyopathy. Some develop diabetes, impaired vision, hearing loss, or an abnormal curvature of the spine (scoliosis). Most people with Friedreich ataxia begin to experience the signs and symptoms around puberty. This condition is caused by mutations in the FXN gene and is inherited in an autosomal recessive pattern.
Question: What is (are) Hypokalemic periodic paralysis ?

Answer: Hypokalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness typically beginning in childhood or adolescence. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. The duration and frequency of the episodes may vary. Hypokalemic periodic paralysis is caused by mutations in the CACNA1S and SCN4A genes which are inherited in an autosomal dominant fashion. A small percentage of people with the characteristic features of hypokalemic periodic paralysis do not have identified mutations in these genes. In these cases, the cause of the condition is unknown. Paralytic crises can be treated with oral or IV potassium. Other management includes prevention of crises and support of specific symptoms.
Question: What are the treatments for Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids ?

Answer: How might CLIPPERS be treated? The signs and symptoms of CLIPPERS typically improve after treatment with steroids. Initial treatment may involve a short course of high dose steroids given intravenously, and then oral steroids. Many patients experience a relapse when steroids are tapered off, so it is usually necessary to continue treatment that suppresses the immune system. Long term treatment may include a low dose of oral steroids and another type of immune suppressant, such as methotrexate or rituximab. Because there have been very few patients with CLIPPERS reported in medical journals, the best course of treatment has not yet been determined.
Question: What is (are) Polymicrogyria ?

Answer: Polymicrogyria is a condition characterized by abnormal development of the brain before birth. Specifically, the surface of the brain develops too many folds which are unusually small. The signs and symptoms associated with the condition vary based on how much of the brain and which areas of the brain are affected; however, affected people may experience recurrent seizures (epilepsy); delayed development; crossed eyes; problems with speech and swallowing; and muscle weakness or paralysis. Bilateral forms (affecting both sides of the brain) tend to cause more severe neurological problems. Polymicrogyria can result from both genetic and environmental causes. It may occur as an isolated finding or as part of a syndrome. Treatment is based on the signs and symptoms present in each person.
Question: What is (are) Hypotrichosis simplex ?

Answer: Hypotrichosis simplex is a rare form of hereditary hair loss without other abnormalities. Affected individuals typically show normal hair at birth, but experience hair loss and thinning of the hair shaft that starts during early childhood and progresses with age. Hypotrichosis simplex can be divided into 2 forms: the scalp-limited form and the generalized form, in which all body hair is affected. The progressive thinning of the hair shaft is a typical feature of androgenetic alopecia. Hypotrichosis simplex can be inherited either as an autosomal dominant or autosomal recessive trait. Some cases are caused by mutations in the APCDD1 gene on chromosome 18p11. To date, there is no treatment for this condition.
Question: Is Triple A syndrome inherited ?

Answer: How is triple A syndrome inherited? Triple A syndrome is inherited in an autosomal recessive pattern,which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene and are referred to as "carriers" but they typically do not show signs and symptoms of the condition. When 2 carriers for the same autosomal recessive condition have a child, there is a 25% (1 in 4) chance that the child will have the condition, a 50% (1 in 2) chance that the child will be a carrier like each of the parents, and a 25% chance that the child will not have the condition and not be a carrier for the condition.
Question: Is Tracheoesophageal fistula inherited ?

Answer: Is tracheoesophageal fistula inherited? In most cases, tracheoesophageal fistula (TEF) is not inherited and there is only one affected person in a family. When TEF is isolated (i.e. does not occur with any other abnormalities), it is considered a multifactorial condition (caused by a combination of various genetic and environmental factors). However, in most isolated cases, no specific genetic changes or environmental factors have been proven to cause the condition. When TEF occurs as a feature of a specific genetic syndrome or chromosome abnormality, it may follow the inheritance pattern and recurrence risk for the underlying condition. In these cases, it may be caused by changes in single genes or chromosomes, or it may be multifactorial.
Question: What are the treatments for Laron syndrome ?

Answer: How might Laron syndrome be treated? There is currently no cure for Laron syndrome. Treatment is primarily focused on improving growth. The only specific treatment available for this condition is subcutaneous injections of insulin-like growth factor 1 (a growth-promoting hormone), often called IGF-1. IGF-1 stimulates linear growth (height) and also improves brain growth and metabolic abnormalities caused by long-term IGF-1 deficiency. It has also been shown to raise blood glucose levels, reduce cholesterol, and increase muscle growth. IGF-1 and GH levels should be closely monitored in people undergoing this treatment because overdosage of IGF-I causes a variety of health problems.
Question: What is (are) Squamous cell carcinoma ?

Answer: Squamous cell carcinoma (SCC) is the second most common skin cancer. SCC most often affects individuals who are exposed to large amounts of sunlight. It is typically characterized by a red papule or plaque with a scaly or crusted surface; it may be suspected whenever a small, firm reddish-colored skin lesion, growth or bump appears on the skin, but it may also be a flat growth with a curly and crusted surface. Most often these growths are located on the face, ears, neck, hands and/or arms, but they may occur on the lips, mouth, tongue, genitalia or other area. The most common causes of SCC are radiation from the sun and arsenic exposure. With appropriate treatment, it is usually curable.
Question: What are the treatments for Cerulean cataract ?

Answer: How might cerulean cataracts be treated? No treatment is known to prevent cerulean cataracts, and there is currently no cure for the condition. Frequent eye evaluations and eventual cataract surgery are typically required to prevent amblyopia (vision loss) as the opacities progress. The symptoms of early cataracts may be improved with new eyeglasses, brighter lighting, anti-glare sunglasses, or magnifying lenses. However, if these measures do not help, surgery is often the only effective treatment. Surgery involves removing the cloudy lens and replacing it with an artificial lens. Surgery is often considered when vision loss regularly interferes with everyday activities, such as driving, reading, or watching TV.
Question: What is (are) Benign multicystic peritoneal mesothelioma ?

Answer: Benign multicystic peritoneal mesothelioma (BMPM) is a very rare benign cystic tumor arising from the peritoneal mesothelium (lining of the abdominal wall). It commonly occurs in young to middle-aged women who have a prior history of abdominal surgery, endometriosis, or pelvic inflammatory disease. The first symptoms usually include abdominal or pelvic pain, tenderness, and rarely, constipation and/or urinary hesitancy. Since it was first described in 1979, there have been approximately 130 cases described in the medical literature. BMPM is not related to prior asbestos exposure. The specific cause is unknown.
Question: Who is at risk for Parasites - Trichuriasis (also known as Whipworm Infection)? ?

Answer: Whipworm is a soil-transmitted helminth (STH) and is the third most common roundworm of humans. Whipworm causes an infection called trichuriasis and often occurs in areas where human feces is used as fertilizer or where defecation onto soil happens. The worms are spread from person to person by fecal-oral transmission or through feces-contaminated food.
    Geographic Distribution
Worldwide, infection occurs more frequently in areas with tropical weather and poor sanitation practices, and among children. In 2002, the estimated number of persons infected with whipworm was 1 billion. Trichuriasis also occurs in the southern United States.
Question: Is oculofaciocardiodental syndrome inherited ?

Answer: This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. Some cells produce a normal amount of BCL6 corepressor protein and other cells produce none. The resulting overall reduction in the amount of this protein leads to the signs and symptoms of OFCD syndrome.  In males (who have only one X chromosome), mutations result in a total loss of the BCL6 corepressor protein. A lack of this protein appears to be lethal very early in development, so no males are born with OFCD syndrome.
Question: How many people are affected by color vision deficiency ?

Answer: Red-green color vision defects are the most common form of color vision deficiency. This condition affects males much more often than females. Among populations with Northern European ancestry, it occurs in about 1 in 12 males and 1 in 200 females. Red-green color vision defects have a lower incidence in almost all other populations studied.  Blue-yellow color vision defects affect males and females equally. This condition occurs in fewer than 1 in 10,000 people worldwide.  Blue cone monochromacy is rarer than the other forms of color vision deficiency, affecting about 1 in 100,000 people worldwide. Like red-green color vision defects, blue cone monochromacy affects males much more often than females.
Question: What are the genetic changes related to nail-patella syndrome ?

Answer: Mutations in the LMX1B gene cause nail-patella syndrome. The LMX1B gene provides instructions for producing a protein that attaches (binds) to specific regions of DNA and regulates the activity of other genes. On the basis of this role, the LMX1B protein is called a transcription factor. The LMX1B protein appears to be particularly important during early embryonic development of the limbs, kidneys, and eyes. Mutations in the LMX1B gene lead to the production of an abnormally short, nonfunctional protein or affect the protein's ability to bind to DNA. It is unclear how mutations in the LMX1B gene lead to the signs and symptoms of nail-patella syndrome.
Question: What are the treatments for PDGFRB-associated chronic eosinophilic leukemia ?

Answer: These resources address the diagnosis or management of PDGFRB-associated chronic eosinophilic leukemia:  - Cancer.Net: Leukemia--Eosinophilic: Treatment  - Genetic Testing Registry: Myeloproliferative disorder, chronic, with eosinophilia  - MedlinePlus Encyclopedia: Eosinophil Count--Absolute  - Seattle Cancer Care Alliance: Hypereosinophilia   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