umarjan11/Medical-qna huggingface dataset:
Question: What are the genetic changes related to aniridia ?

Answer: Aniridia is caused by mutations in the PAX6 gene. The PAX6 gene provides instructions for making a protein that is involved in the early development of the eyes, brain and spinal cord (central nervous system), and the pancreas. Within the brain, the PAX6 protein is involved in the development of a specialized group of brain cells that process smell (the olfactory bulb). The PAX6 protein attaches (binds) to specific regions of DNA and regulates the activity of other genes. On the basis of this role, the PAX6 protein is called a transcription factor. Following birth, the PAX6 protein regulates several genes that likely contribute to the maintenance of different eye structures.  Mutations in the PAX6 gene result in the production of a nonfunctional PAX6 protein that is unable to bind to DNA and regulate the activity of other genes. A lack of functional PAX6 protein disrupts the formation of the eyes during embryonic development.
Question: What is (are) Legius syndrome ?

Answer: Legius syndrome is a condition characterized by changes in skin coloring (pigmentation). Almost all affected individuals have multiple caf-au-lait spots, which are flat patches on the skin that are darker than the surrounding area. Another pigmentation change, freckles in the armpits and groin, may occur in some affected individuals.  Other signs and symptoms of Legius syndrome may include an abnormally large head (macrocephaly) and unusual facial characteristics. Although most people with Legius syndrome have normal intelligence, some affected individuals have been diagnosed with learning disabilities, attention deficit disorder (ADD), or attention deficit hyperactivity disorder (ADHD).  Many of the signs and symptoms of Legius syndrome also occur in a similar disorder called neurofibromatosis type 1. It can be difficult to tell the two disorders apart in early childhood. However, the features of the two disorders differ later in life.
Question: What are the genetic changes related to glutaric acidemia type I ?

Answer: Mutations in the GCDH gene cause glutaric acidemia type I.  The GCDH gene provides instructions for making the enzyme glutaryl-CoA dehydrogenase. This enzyme is involved in processing the amino acids lysine, hydroxylysine, and tryptophan.  Mutations in the GCDH gene prevent production of the enzyme or result in the production of a defective enzyme that cannot function. This enzyme deficiency allows lysine, hydroxylysine and tryptophan and their intermediate breakdown products to build up to abnormal levels, especially at times when the body is under stress.  The intermediate breakdown products resulting from incomplete processing of lysine, hydroxylysine, and tryptophan can damage the brain, particularly the basal ganglia, causing the signs and symptoms of glutaric acidemia type I.
Question: What is (are) holocarboxylase synthetase deficiency ?

Answer: Holocarboxylase synthetase deficiency is an inherited disorder in which the body is unable to use the vitamin biotin effectively. This disorder is classified as a multiple carboxylase deficiency, a group of disorders characterized by impaired activity of certain enzymes that depend on biotin.  The signs and symptoms of holocarboxylase synthetase deficiency typically appear within the first few months of life, but the age of onset varies. Affected infants often have difficulty feeding, breathing problems, a skin rash, hair loss (alopecia), and a lack of energy (lethargy). Immediate treatment and lifelong management with biotin supplements may prevent many of these complications. If left untreated, the disorder can lead to delayed development, seizures, and coma. These medical problems may be life-threatening in some cases.
Question: What are the treatments for nonsyndromic hearing loss ?

Answer: These resources address the diagnosis or management of nonsyndromic hearing loss:  - Baby's First Test: Hearing Loss  - Gene Review: Gene Review: Deafness and Hereditary Hearing Loss Overview  - Genetic Testing Registry: Deafness, X-linked  - Genetic Testing Registry: Hereditary hearing loss and deafness  - Genetic Testing Registry: Non-syndromic genetic deafness  - MedlinePlus Encyclopedia: Age-related hearing loss  - MedlinePlus Encyclopedia: Audiology  - MedlinePlus Encyclopedia: Hearing loss  - MedlinePlus Encyclopedia: Hearing or speech impairment - resources   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: What are the treatments for galactosemia ?

Answer: These resources address the diagnosis or management of galactosemia:  - Baby's First Test: Classic Galactosemia  - Baby's First Test: Galactoepimerase Deficiency  - Baby's First Test: Galactokinase Deficiency  - Gene Review: Gene Review: Classic Galactosemia and Clinical Variant Galactosemia  - Gene Review: Gene Review: Duarte Variant Galactosemia  - Gene Review: Gene Review: Epimerase Deficiency Galactosemia  - Genetic Testing Registry: Galactosemia  - MedlinePlus Encyclopedia: Galactose-1-phosphate uridyltransferase  - MedlinePlus Encyclopedia: Galactosemia   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: What is (are) Cataract ?

Answer: Yes. Although most cataracts are related to aging, there are other types of cataract. These include - secondary cataract  - traumatic cataract  - congenital cataract  - radiation cataract. secondary cataract traumatic cataract congenital cataract radiation cataract. Secondary cataracts can form after surgery for other eye problems, such as glaucoma. They also can develop in people who have other health problems, such as diabetes. Secondary cataracts are sometimes linked to steroid use. Traumatic cataracts can develop after an eye injury, sometimes years later. Some babies are born with cataracts or develop them in childhood, often in both eyes. These congenital cataracts may be so small that they do not affect vision. If they do, the lenses may need to be removed. Radiation cataracts can develop after exposure to some types of radiation.
Question: Who is at risk for Liver (Hepatocellular) Cancer? ?

Answer: Having hepatitis or cirrhosis can increase the risk of developing liver cancer. Anything that increases the chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. People who think they may be at risk should discuss this with their doctor. Risk factors for liver cancer include:         - Having hepatitis B or hepatitis C; having both hepatitis B and hepatitis C increases the risk even more.    - Having cirrhosis, which can be caused by:                -  hepatitis (especially hepatitis C); or      - drinking large amounts of alcohol for many years or being an alcoholic.             - Eating foods tainted with aflatoxin (poison from a fungus that can grow on foods, such as grains and nuts, that have not been stored properly).
Question: What is (are) Huntington's Disease ?

Answer: Huntington's disease (HD) is an inherited disease that causes certain nerve cells in the brain to waste away. People are born with the defective gene, but symptoms usually don't appear until middle age. Early symptoms of HD may include uncontrolled movements, clumsiness, and balance problems. Later, HD can take away the ability to walk, talk, and swallow. Some people stop recognizing family members. Others are aware of their environment and are able to express emotions.    If one of your parents has Huntington's disease, you have a 50 percent chance of getting it. A blood test can tell you if have the HD gene and will develop the disease. Genetic counseling can help you weigh the risks and benefits of taking the test.    There is no cure. Medicines can help manage some of the symptoms, but cannot slow down or stop the disease.    NIH: National Institute of Neurological Disorders and Stroke
Question: Do you have information about Health Literacy

Answer: Summary : Health literacy refers to how well a person can get the health information and services that they need, and how well they understand them. It is also about using them to make good health decisions. It involves differences that people have in areas such as       - Access to information that they can understand    - Skills, such as finding that information, communicating with health care providers, living a healthy lifestyle, and managing a disease    - Knowledge of medical words, and of how their healthcare system works    - Abilities, such as physical or mental limitations    - Personal factors, such as age, education, language abilities, and culture       More than 90 million adults in the United States have low health literacy. It affects their ability to make health decisions. This can harm their health. They may have trouble managing chronic diseases, and leading a healthy lifestyle. They may go to the hospital more often, and have poorer health overall.    NIH: National Institutes of Health
Question: What is (are) Pericardial Disorders ?

Answer: The pericardium is a membrane, or sac, that surrounds your heart. It holds the heart in place and helps it work properly. Problems with the pericardium include       - Pericarditis - an inflammation of the sac. It can be from a virus or other infection, a heart attack, heart surgery, other medical conditions, injuries, and certain medicines.    - Pericardial effusion - the buildup of fluid in the sac    - Cardiac tamponade - a serious problem in which buildup of fluid in the sac causes problems with the function of the heart       Symptoms of pericardial problems include chest pain, rapid heartbeat, and difficulty breathing. Fever is a common symptom of acute pericarditis. Your doctor may use a physical exam, imaging tests, and heart tests to make a diagnosis. Treatment depends on the cause.    NIH: National Heart, Lung, and Blood Institute
Question: What is (are) Interstitial cystitis ?

Answer: Interstitial cystitis (IC) is a condition that causes discomfort or pain in the bladder and abdomen. Symptoms may vary, but often include an urgent or frequent need to urinate. Many of the individuals affected by IC are women. Because IC varies so much in symptoms and severity, most researchers believe it is not one, but several diseases. In recent years, scientists have started to use the terms bladder pain syndrome (BPS) or painful bladder syndrome (PBS) to describe cases with painful urinary symptoms that may not meet the strictest definition of IC. While there is no cure for IC/PBS, in many cases, the symptoms can be managed. Treatments include dietary and lifestyle changes; distending, or inflating, the bladder; bathing the inside of the bladder with a medicine solution; oral medicines and in rare cases, surgery.
Question: What is (are) La Crosse encephalitis ?

Answer: La Crosse (LAC) encephalitis is a mosquito-borne virus that was first described in La Crosse, Wisconsin in 1963. Since then, it has been reported in several Midwestern and Mid-Atlantic states. The LAC virus is one of many mosquito-transmitted viruses that can cause an inflammation of the brain (encephalitis). About 80-100 cases of this condition are reported each year in the United States. Most cases occur in children younger than age 16. While most people who become infected have no symptoms, those who do become ill may have fever, headache, vomiting and lethargy (tiredness). Severe cases develop encephalitis accompanied by seizures. Coma and paralysis occur in some cases. There is no specific treatment for LAC encephalitis. Supportive therapy is provided to those who develop severe cases of the disease.
Question: What is (are) Moebius syndrome ?

Answer: Moebius syndrome is a rare neurological condition that primarily affects the muscles that control facial expression and eye movement. Signs and symptoms of the condition may include weakness or paralysis of the facial muscles; feeding, swallowing, and choking problems; excessive drooling; crossed eyes; lack of facial expression; eye sensitivity; high or cleft palate; hearing problems; dental abnormalities; bone abnormalities in the hands and feet; and/or speech difficulties. Affected children often experience delayed development of motor skills (such as crawling and walking), although most eventually acquire these skills. Moebius syndrome is caused by the absence or underdevelopment of the 6th and 7th cranial nerves, which control eye movement and facial expression. Other cranial nerves may also be affected. There is no cure for Moebius syndrome, but proper care and treatment give many individuals a normal life expectancy.
Question: What are the treatments for Lichen sclerosus ?

Answer: How might lichen sclerosus be treated? Strong topical steroid creams or ointments reportedly are very helpful for lichen sclerosus, especially when it affects the genital areas. However, the response to this treatment varies. While itching may be relieved within days, it can take weeks or months for the skin's appearance to return to normal. Other treatments that may be used instead of steroid creams, or in combination with steroid creams, include calcipotriol cream, topical and systemic retinoids (acitretin), and/or systemic steroids. If the vaginal opening has narrowed, dilators may be needed. In rare cases, surgery is necessary to allow for sexual intercourse. The condition sometimes causes the vaginal opening to narrow or close again after surgery is initially successful. Additional information about treatment of lichen sclerosus can be viewed on Medscape's Web site.
Question: What is (are) Lactate dehydrogenase deficiency ?

Answer: Lactate dehydrogenase deficiency is a condition that affects how the body breaks down sugar to use as energy in cells, primarily muscle cells. There are two types of lactate dehydrogenase deficiency: lactate dehydrogenase A deficiency (sometimes called glycogen storage disease XI) and lactate dehydrogenase B deficiency. People with lactate dehydrogenase A deficiency experience fatigue, muscle pain, and cramps during exercise (exercise intolerance). People with lactate dehydrogenase B deficiency typically do not have symptoms. Lactate dehydrogenase A deficiency is caused by mutations in the LDHA gene. Lactate dehydrogenase B deficiency is caused by mutations in the LDHB gene. Both types are inherited in an autosomal recessive pattern.
Question: What is (are) Mucopolysaccharidosis type IIIC ?

Answer: Mucopolysaccharidosis type IIIC (MPS IIIC) is an genetic disorder that makes the body unable to break down large sugar molecules called glycosaminoglycans (GAGs, formerly called mucopolysaccharides). Specifically, people with this condition are unable to break down a GAG called heparan sulfate. Affected individuals can have severe neurological symptoms, including progressive dementia, aggressive behavior, hyperactivity, seizures, deafness, loss of vision, and an inability to sleep for more than a few hours at a time. MPS IIIC results from the missing or altered enzyme acetyl-CoAlpha-glucosaminide acetyltransferase. This condition is inherited in an autosomal recessive manner. There is no specific treatment. Most people with MPS IIIC live into their teenage years; some live longer.
Question: What is (are) Fryns syndrome ?

Answer: Fryns syndrome is a condition that affects the development of many parts of the body. Signs and symptoms vary widely among affected individuals. Many affected individuals have a defect in the diaphragm muscle such as a congenital diaphragmatic hernia (a hole in the diaphragm present at birth). This may allow the stomach and intestines to move into the chest, which can result in pulmonary hypoplasia (underdevelopment of the lungs). Other signs and symptoms may include abnormalities of the fingers and toes; distinctive facial features; severe developmental delay and intellectual disability; and abnormalities of the brain, cardiovascular system, gastrointestinal system, kidneys, and genitalia. Most affected individuals die before birth or in early infancy. The cause of the condition is not known, but it is thought to be genetic and appears to be inherited in an autosomal recessive manner.
Question: What is (are) TARP syndrome ?

Answer: TARP syndrome is a rare condition affecting males that causes several birth defects. TARP stands for Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistent left superior vena cava. Those with TARP syndrome have clubfoot deformity (talipes equinovarus) and congenital heart defects involving failure of the upper heart chambers to close (atrial septal defect). The Robin sequence (also known as Pierre Robins sequence) is characterized by a small lower jaw at birth that prevents proper feeding of the infant, followed by a retracted or displaced tongue. A high-arched, cleft soft palate is also commonly seen. Affected individuals also have persistent left superior vena cava. TARP syndrome has been reported to cause death before birth or soon after birth. This condition is caused by mutations in the RBM10 gene and is inherited in an X-linked recessive fashion.
Question: What is (are) Hashimoto's syndrome ?

Answer: Hashimotos syndrome is a form of chronic inflammation that can damage the thyroid, reducing its ability to produce hormones (hypothyroidism). An early sign of the condition may be enlargement of the thyroid (called a goiter), which can potentially interfere with breathing or swallowing. Other signs and symptoms may include tiredness, weight gain, thin and dry hair, joint or muscle pain, constipation, cold intolerance, and/or a slowed heart rate. Affected women may have irregular menstrual periods or difficulty becoming pregnant. Hashimotos syndrome is the most common cause of hypothyroidism in the United States. It is more common in women than in men, and it usually appears in mid-adulthood. The exact cause is unknown but it is thought to result from a combination of genetic and environmental factors. Treatment is not always needed, but may include taking synthetic thyroid hormone.
Question: What is (are) Methylcobalamin deficiency cbl G type ?

Answer: Methylcobalamin deficiency cbl G type is a rare condition that occurs when the body is unable to process certain amino acids (building blocks of protein) properly. In most cases, signs and symptoms develop during the first year of life; however, the age of onset can range from infancy to adulthood. Common features of the condition include feeding difficulties, lethargy, seizures, poor muscle tone (hypotonia), developmental delay, microcephaly (unusually small head size), and megaloblastic anemia. Methylcobalamin deficiency cbl G type is caused by changes (mutations) in the MTR gene and is inherited in an autosomal recessive manner. Treatment generally includes regular doses of hydroxycobalamin (vitamin B12). Some affected people may also require supplementation with folates and betaine.
Question: Is Dominant dystrophic epidermolysis bullosa inherited ?

Answer: How is dominant dystrophic epidermolysis bullosa inherited? Dominant dystrophic epidermolysis bullosa (DDEB) has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the gene with the mutation in each cell is sufficient to cause the disorder. About 70 percent of individuals with DDEB have inherited a COL7A1 mutation from an affected parent. The remaining 30 percent have the condition as a result of a new (de novo) mutation in the COL7A1 gene. These cases occur in people with no history of the disorder in their family. Regardless of whether an individual with an autosomal dominant condition has inherited the mutation or has a new mutation, each child of the affected individual has a 50% (1 in 2) chance of also having the condition, and a 50% chance of not having the condition.
Question: What are the treatments for Trigeminal Neuralgia ?

Answer: Because there are a large number of conditions that can cause facial pain, TN can be difficult to diagnose. But finding the cause of the pain is important as the treatments for different types of pain may differ. Treatment options include medicines such as anticonvulsants and tricyclic antidepressants, surgery, and complementary approaches. Typical analgesics and opioids are not usually helpful in treating the sharp, recurring pain caused by TN. If medication fails to relieve pain or produces intolerable side effects such as excess fatigue, surgical treatment may be recommended. Several neurosurgical procedures are available. Some are done on an outpatient basis, while others are more complex and require hospitalization. Some patients choose to manage TN using complementary techniques, usually in combination with drug treatment. These techniques include acupuncture, biofeedback, vitamin therapy, nutritional therapy, and electrical stimulation of the nerves.
Question: What is (are) ataxia with vitamin E deficiency ?

Answer: Ataxia with vitamin E deficiency is a disorder that impairs the body's ability to use vitamin E obtained from the diet. Vitamin E is an antioxidant, which means that it protects cells in the body from the damaging effects of unstable molecules called free radicals. A shortage (deficiency) of vitamin E can lead to neurological problems, such as difficulty coordinating movements (ataxia) and speech (dysarthria), loss of reflexes in the legs (lower limb areflexia), and a loss of sensation in the extremities (peripheral neuropathy). Some people with this condition have developed an eye disorder called retinitis pigmentosa that causes vision loss. Most people who have ataxia with vitamin E deficiency start to experience problems with movement between the ages of 5 and 15 years. The movement problems tend to worsen with age.
Question: What are the treatments for hereditary paraganglioma-pheochromocytoma ?

Answer: These resources address the diagnosis or management of hereditary paraganglioma-pheochromocytoma:  - Gene Review: Gene Review: Hereditary Paraganglioma-Pheochromocytoma Syndromes  - Genetic Testing Registry: Paragangliomas 1  - Genetic Testing Registry: Paragangliomas 2  - Genetic Testing Registry: Paragangliomas 3  - Genetic Testing Registry: Paragangliomas 4  - MedlinePlus Encyclopedia: Pheochromocytoma  - National Cancer Institute: Pheochromocytoma and Paraganglioma   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: What are the genetic changes related to neurofibromatosis type 2 ?

Answer: Mutations in the NF2 gene cause neurofibromatosis type 2. The NF2 gene provides instructions for making a protein called merlin (also known as schwannomin). This protein is produced in the nervous system, particularly in Schwann cells, which surround and insulate nerve cells (neurons) in the brain and spinal cord. Merlin acts as a tumor suppressor, which means that it keeps cells from growing and dividing too rapidly or in an uncontrolled way. Although its exact function is unknown, this protein is likely also involved in controlling cell movement, cell shape, and communication between cells. Mutations in the NF2 gene lead to the production of a nonfunctional version of the merlin protein that cannot regulate the growth and division of cells. Research suggests that the loss of merlin allows cells, especially Schwann cells, to multiply too frequently and form the tumors characteristic of neurofibromatosis type 2.