umarjan11/Medical-qna huggingface dataset:
Question: Is centronuclear myopathy inherited ?

Answer: When centronuclear myopathy is caused by mutations in the DNM2 gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered DNM2 gene in each cell is sufficient to cause the disorder. Rarely, BIN1 gene mutations that are inherited in an autosomal dominant pattern can cause centronuclear myopathy.  Centronuclear myopathy caused by TTN gene mutations and most cases caused by BIN1 gene mutations are 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.  Other cases of centronuclear myopathy that are not caused by these genes are typically inherited in an autosomal recessive manner, although some follow an autosomal dominant pattern.
Question: What are the genetic changes related to Bietti crystalline dystrophy ?

Answer: Bietti crystalline dystrophy is caused by mutations in the CYP4V2 gene. This gene provides instructions for making a member of the cytochrome P450 family of enzymes. These enzymes are involved in the formation and breakdown of various molecules and chemicals within cells. The CYP4V2 enzyme is involved in a multi-step process called fatty acid oxidation in which lipids are broken down and converted into energy, but the enzyme's specific function is not well understood. CYP4V2 gene mutations that cause Bietti crystalline dystrophy impair or eliminate the function of this enzyme and are believed to affect lipid breakdown. However, it is unknown how they lead to the specific signs and symptoms of Bietti crystalline dystrophy. For unknown reasons, the severity of the signs and symptoms differs significantly among individuals with the same CYP4V2 gene mutation.
Question: What is (are) Renal Artery Stenosis ?

Answer: Renal artery stenosis is the narrowing of one or both renal arteries. Renal means kidney and stenosis means narrowing. The renal arteries are blood vessels that carry blood to the kidneys from the aortathe main blood vessel that carries blood from the heart to arteries throughout the body.
                
RVH is high blood pressure caused by RAS. Blood pressure is written with two numbers separated by a slash, 120/80, and is said as 120 over 80. The top number is called the systolic pressure and represents the pressure as the heart beats and pushes blood through the blood vessels. The bottom number is called the diastolic pressure and represents the pressure as blood vessels relax between heartbeats. A persons blood pressure is considered normal if it stays at or below 120/80. High blood pressure is a systolic pressure of 140 or above or a diastolic pressure of 90 or above.1
Question: Who is at risk for Osteosarcoma and Malignant Fibrous Histiocytoma of Bone? ?

Answer: Having past treatment with radiation can increase the risk of osteosarcoma. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your child's doctor if you think your child may be at risk. Risk factors for osteosarcoma include the following:         - Past treatment with radiation therapy.    - Past treatment with anticancer drugs called alkylating agents.    - Having a certain change in the retinoblastoma gene.    - Having certain conditions, such as the following:               -  Bloom syndrome.      -  Diamond-Blackfan anemia.      -  Li-Fraumeni syndrome.      -  Paget disease.      -  Hereditary retinoblastoma.      -  Rothmund-Thomson syndrome.      -  Werner syndrome.
Question: Do you have information about Ozone

Answer: Summary : Ozone is a gas. It can be good or bad, depending on where it is. "Good" ozone occurs naturally about 10 to 30 miles above the Earth's surface. It shields us from the sun's ultraviolet rays. Part of the good ozone layer is gone. Man-made chemicals have destroyed it. Without enough good ozone, people may get too much ultraviolet radiation. This may increase the risk of skin cancer, cataracts, and immune system problems.    "Bad" ozone is at ground level. It forms when pollutants from cars, factories, and other sources react chemically with sunlight. It is the main ingredient in smog. It is usually worst in the summer. Breathing bad ozone can be harmful. It can cause coughing, throat irritation, worsening of asthma, bronchitis, and emphysema. It can lead to permanent lung damage, if you are regularly exposed to it.    Environmental Protection Agency
Question: What is (are) Menopause ?

Answer: Menopause is the time in a woman's life when her period stops. It usually occurs naturally, most often after age 45. Menopause happens because the woman's ovaries stop producing the hormones estrogen and progesterone.     A woman has reached menopause when she has not had a period for one year. Changes and symptoms can start several years earlier. They include       - A change in periods - shorter or longer, lighter or heavier, with more or less time in between     - Hot flashes and/or night sweats     - Trouble sleeping     - Vaginal dryness     - Mood swings    - Trouble focusing    - Less hair on head, more on face        Some symptoms require treatment. Talk to your doctor about how to best manage menopause. Make sure the doctor knows your medical history and your family medical history. This includes whether you are at risk for heart disease, osteoporosis, or breast cancer.    Dept. of Health and Human Services Office on Women's Health
Question: Do you have information about Nursing Homes

Answer: Summary : A nursing home is a place for people who don't need to be in a hospital but can't be cared for at home. Most nursing homes have nursing aides and skilled nurses on hand 24 hours a day.     Some nursing homes are set up like a hospital. The staff provides medical care, as well as physical, speech and occupational therapy. There might be a nurses' station on each floor. Other nursing homes try to be more like home. They try to have a neighborhood feel. Often, they don't have a fixed day-to-day schedule, and kitchens might be open to residents. Staff members are encouraged to develop relationships with residents.    Some nursing homes have special care units for people with serious memory problems such as Alzheimer's disease. Some will let couples live together. Nursing homes are not only for the elderly, but for anyone who requires 24-hour care.    NIH: National Institute on Aging
Question: What is (are) Ataxia Telangiectasia ?

Answer: Ataxia-telangiectasia (A-T) is a rare, inherited disease. It affects the nervous system, immune system, and other body systems. Symptoms appear in young children, usually before age 5. They include       - Ataxia - trouble coordinating movements    - Poor balance     - Slurred speech    - Tiny, red spider veins, called telangiectasias, on the skin and eyes    - Lung infections    - Delayed physical and sexual development       People with A-T have an increased risk of developing diabetes and cancers, especially lymphoma and leukemia. Although it affects the brain, people with A-T usually have normal or high intelligence.    A-T has no cure. Treatments might improve some symptoms. They include injections to strengthen the immune system, physical and speech therapy, and high-dose vitamins.     NIH: National Institute of Neurological Disorders and Stroke
Question: What is (are) Pituitary Tumors ?

Answer: Your pituitary gland is a pea-sized gland at the base of your brain. The pituitary is the "master control gland" - it makes hormones that affect growth and the functions of other glands in the body.     Pituitary tumors are common, but often they don't cause health problems. Most people with pituitary tumors never even know they have them. The most common type of pituitary tumor produces hormones and disrupts the balance of hormones in your body. This can cause endocrine diseases such as Cushing's syndrome and hyperthyroidism.    Symptoms of pituitary tumors include       - Headaches     - Vision problems    - Nausea and vomiting    - Problems caused by the production of too many hormones       Pituitary tumors are usually curable. Treatment is often surgery to remove the tumor. Other options include medicines, radiation therapy, and chemotherapy.
Question: What is (are) Congenital disorders of glycosylation ?

Answer: Congenital disorders of glycosylation (CDG) are a group of inherited metabolic disorders that affect a process called glycosylation. Glycosylation is the complex process by which all human cells build long sugar chains that are attached to proteins, which are called glycoproteins. There are many steps involved in this process, and each step is triggered by a type of protein called an enzyme. Individuals with a CDG are missing one of the enzymes that is required for glycosylation. The type of CDG that a person has depends on which enzyme is missing. Currently, there are 19 identified types of CDG. CDG type IA is the most common form. The symptoms of CDG vary widely among affected individuals. Some people have severe developmental delay, failure to thrive, and multiple organ problems, while others have diarrhea, low blood sugar (hypoglycemia), liver problems, and normal developmental potential.
Question: What is (are) Macular degeneration ?

Answer: Age-related macular degeneration (AMD) is an eye condition characterized by progressive destruction of the macula. The macula is located in the retina in the eye and enables one to see fine details and perform tasks that require central vision, such as reading and driving. Signs and symptoms include vision loss, which usually becomes noticeable in a person's sixties or seventies and tends to worsen over time. There are 2 major types of AMD, known as the dry form and the wet form. The dry form accounts for up to 90% of cases and is characterized by slowly progressive vision loss. The wet form is associated with severe vision loss that can worsen rapidly. AMD is caused by a combination of genetic and environmental factors, some of which have been identified. Increasing age is the most important non-genetic risk factor. The condition appears to run in families in some cases. While there is currently no cure for AMD, there are therapies available to help slow the progression of the condition.
Question: What is (are) Fibrous dysplasia ?

Answer: Fibrous dysplasia is a skeletal disorder that is characterized by the replacement of normal bone with fibrous bone tissue. It may involve one bone (monostotic) or multiple bones (polyostotic). Fibrous dysplasia can affect any bone in the body. The most common sites are the bones in the skull and face, the long bones in the arms and legs, the pelvis, and the ribs. Though many individuals with this condition do not have any symptoms, others may have bone pain, abnormally shaped bones, or an increased risk of fractures (broken bones). This condition can occur alone or as part of a genetic disorder, such as McCune-Albright syndrome. While there is no cure for fibrous dysplasia, the symptoms can be treated. Medications known as bisphosphonates can reduce pain and surgery may be indicated for fractures or to correct misshapen bones.
Question: How to diagnose Erythromelalgia ?

Answer: How is erythromelalgia diagnosed? Erythromelalgia can be diagnosed through a clinical exam and medical history. Additional tests may include a skin biopsy and thermography to evaluate skin temperature. Blood tests or other studies may be done to rule out other conditions that can cause similar symptoms. There is not a specific type of doctor that always diagnoses and treats erythromelalgia. A variety of specialists (alone or in combination) may be involved in the diagnosis and treatment of this condition. These may include vascular specialists, hematologists, dermatologists, neurologists, rheumatologists, and other types of physicians. The type of specialist that is appropriate may depend on the underlying cause when secondary erythromelalgia is present. Since erythromelalgia is a rare disease, many doctors are not familiar with the condition. The Erythromelalgia Association offers resources and support for individuals looking for more information about the diagnosis of the condition.
Question: Is Holt-Oram syndrome inherited ?

Answer: How is Holt-Oram syndrome inherited? Holt-Oram syndrome (HOS) is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause signs and symptoms of the condition. In most cases, the mutation in the gene occurs for the first time in the affected person and is not inherited from a parent. When a mutation occurs for the first time, it is called a de novo mutation. This is what typically occurs when there is no family history of the condition. A de novo mutation is due to a random change in the DNA in an egg or sperm cell, or right after conception. In some cases, an affected person inherits the mutated copy of the gene from an affected parent. In these cases, the symptoms and severity can differ from those of the affected parent.  When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the condition.
Question: What are the treatments for Alopecia universalis ?

Answer: How might alopecia universalis be treated? Although these is no therapy approved for the treatment of alopecia universalis, some people find that medications approved for other purposes may help hair grow back, at least temporarily. Since alopecia universalis is one of the more severe types of alopecia areata, treatment options are somewhat limited. The most common treatments include corticosteriods and topical (applied to the skin) immunotherapy. There are possible side effects of corticosteriods which should be discussed with a physician. Also, regrown hair is likely to fall out when the corticosteriods are stopped. About 40% of people treated with topical immunotherapy will regrow scalp hair after about six months of treatment. Those who do successfully regrow scalp hair need to continue the treatment to maintain the hair regrowth. While these treatments may promote hair growth, they do not prevent new loss or cure the underlying disease. For those who do not respond to treatment, wigs are an option.
Question: Is Metachromatic leukodystrophy inherited ?

Answer: How is metachromatic leukodystrophy inherited? Metachromatic leukodystrophy is inherited in an autosomal recessive manner. This means that both copies of the disease-causing gene in each cell must have a mutation for an individual to be affected. Individuals inherit two copies of each gene - one copy from each parent. Typically, an individual is affected because they inherited a mutated copy of the gene from each parent. Individuals with one mutated copy of the gene (such as an unaffected parent of an affected individual) are referred to as carriers; carriers typically do not have any signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
Question: What is (are) Mycetoma ?

Answer: Mycetoma is a chronic infection that is caused by fungi or actinomycetes (bacteria that produce filaments, like fungi). The first symptom of the condition is generally painless swelling beneath the skin, which progresses to a nodule (lump) over several years. Eventually, affected people experience massive swelling and hardening of the affected area; skin rupture; and formation of sinus tracts (holes) that discharge pus and grains filled with organisms. Some affected people have no discomfort while others report itching and/or pain. Mycetoma is rare in the United States, but is commonly diagnosed in Africa, Mexico and India. In these countries, it occurs most frequently in farmers, shepherds, and people living in rural areas. Frequent exposure to penetrating wounds by thorns or splinters is a risk factor. Treatment varies based on the cause of the condition and may include antibiotics or antifungal medications.
Question: How to diagnose Amyotrophic lateral sclerosis ?

Answer: Is genetic testing available for amyotrophic lateral sclerosis? Yes. Clinical genetic testing is currently available for several genes in which mutations are known to cause ALS. Genetic testing on a research basis is also available for select susceptibility genes associated with ALS. You can find laboratories offering clinical and research genetic testing for ALS on a Web site called GeneTests. To see GeneTests' list of the types of ALS for which genetic testing is available, click here. Click on "Testing" next to each type of ALS of interest to see a list of the laboratories that offer clinical testing. Click on "Research" next to each type of ALS of interest to see a list of the laboratories that offer research testing. Please note that most of the laboratories listed through GeneTests do not accept direct contact from patients and their families. Therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
Question: What are the treatments for Necrotizing fasciitis ?

Answer: How might necrotizing fasciitis be treated? Accurate and prompt diagnosis, treatment with intravenous (IV) antibiotics, and surgery to remove dead tissue are all important for treating necrotizing fasciitis. Since the blood supply to the infected tissue is impaired, antibiotics cannot penetrate into the infected tissue. As a result, surgery to remove the dead, damaged, or infected tissue is the cornerstone of treatment for necrotizing fasciitis. In addition, early surgical treatment may minimize tissue loss, eliminating the need for amputation of the infected extremity. The choice of antibiotics will likely depend on the particular bacteria involved. Supplemental oxygen, fluids, and medicines may be needed to raise the blood pressure. Hyperbaric oxygen therapy and intravenous immunoglobulin may also be considered, but their use in patients with NF is considered controversial by some.
Question: What is (are) Platelet storage pool deficiency ?

Answer: Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. The signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation; easy bruising; recurrent anemia; and abnormal bleeding after surgery, dental work or childbirth. Platelet storage pool deficiencies may be genetic or acquired (non-genetic). They can also be part of an inherited genetic syndrome such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome. Treatment is symptomatic.
Question: What is (are) Prothrombin thrombophilia ?

Answer: Prothrombin thrombophilia is an inherited disorder of blood clotting. Thrombophilia is an increased tendency to form abnormal blood clots in blood vessels. People who have prothrombin thrombophilia are at somewhat higher than average risk for a type of clot called a deep venous thrombosis, which typically occur in the deep veins of the legs. Affected people also have an increased risk of developing a pulmonary embolism. However, most people with prothrombin thrombophilia never develop abnormal blood clots. Prothrombin thrombophilia is the second most common inherited form of thrombophilia after factor V Leiden thrombophilia. It is more common in Caucasian populations. This condition is caused by a particular mutation (written G20210A or 20210G>A) in the F2 gene. People can inherit one or two copies of the gene mutation from their parents.
Question: Is Myoclonic epilepsy with ragged red fibers inherited ?

Answer: Is myoclonic epilepsy associated with ragged red fibers genetic? If so, how is it inherited? MERRF is caused by mutations in the mitochondrial DNA and is transmitted by maternal inheritance. It is called maternal inheritance because a child inherits the great majority of their mitochondria from their mother through the egg.   The Centre for Genetics Education provides a detail description of maternal inheritance.  The mother of an individual with MERRF usually has a mitochondrial mutation and may or may not have symptoms.  Or, an individual with MERRF may have a mitochondrial mutation that just occurred in them, called a de novo mutation.  If the mother has the mitochondrial mutation, all of her children will inherit the mutation and may or may not have symptoms.  All of her daughters children will also inherit the mitochondrial mutation.  Her son's children are not at risk of inheriting the mutation.
Question: How to prevent Bronchitis ?

Answer: You can't always prevent acute or chronic bronchitis. However, you can take steps to lower your risk for both conditions. The most important step is to quit smoking or not start smoking.
                
For more information about how to quit smoking, go to the Diseases and Conditions Index Smoking and Your Heart article and the National Heart, Lung, and Blood Institute's "Your Guide to a Healthy Heart." Although these resources focus on heart health, they include general information about how to quit smoking.
                
Also, try to avoid other lung irritants, such as secondhand smoke, dust, fumes, vapors, and air pollution. For example, wear a mask over your mouth and nose when you use paint, paint remover, varnish, or other substances with strong fumes. This will help protect your lungs.
                
Wash your hands often to limit your exposure to germs and bacteria. Your doctor also may advise you to get a yearly flu shot and a pneumonia vaccine.
Question: What are the treatments for succinate-CoA ligase deficiency ?

Answer: These resources address the diagnosis or management of succinate-CoA ligase deficiency:  - Gene Review: Gene Review: SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria  - Genetic Testing Registry: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)  - Genetic Testing Registry: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)  - MedlinePlus Encyclopedia: Hypotonia  - MedlinePlus Encyclopedia: Lactic Acidosis   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 lymphangioleiomyomatosis ?

Answer: Mutations in the TSC1 gene or, more commonly, the TSC2 gene, cause LAM. The TSC1 and TSC2 genes provide instructions for making the proteins hamartin and tuberin, respectively. Within cells, these two proteins likely help regulate cell growth and size. The proteins act as tumor suppressors, which normally prevent cells from growing and dividing too fast or in an uncontrolled way.  When both copies of the TSC1 gene are mutated in a particular cell, that cell cannot produce any functional hamartin; cells with two altered copies of the TSC2 gene are unable to produce any functional tuberin. The loss of these proteins allows the cell to grow and divide in an uncontrolled way, resulting in the tumors and cysts associated with LAM.  It is not well understood why LAM occurs predominantly in women. Researchers believe that the female sex hormone estrogen may be involved in the development of the disorder.