umarjan11/Medical-qna huggingface dataset:
Question: What causes Craniometaphyseal dysplasia, autosomal dominant ?

Answer: What causes autosomal dominant craniometaphyseal dysplasia? Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the ANKH gene. The ANKH gene provides instructions for making a protein that is present in bone and transports a molecule called pyrophosphate out of cells. Pyrophosphate helps regulate bone formation by preventing mineralization, the process by which minerals such as calcium and phosphorus are deposited in developing bones. The ANKH protein may have other, unknown functions. Mutations in the ANKH gene that cause autosomal dominant craniometaphyseal dysplasia may decrease the ANKH protein's ability to transport pyrophosphate out of cells. Reduced levels of pyrophosphate can increase bone mineralization, contributing to the bone overgrowth seen in craniometaphyseal dysplasia. Why long bones are shaped differently and only the skull bones become thicker in people with this condition remains unclear.
Question: What is (are) Inflammatory myofibroblastic tumor ?

Answer: An inflammatory myofibroblastic tumor (IMT) is an uncommon, presumably benign (non-cancerous) tumor made up of cells called myofibroblastic spindle cells. It usually develops in children or young adults, but can affect people of any age. An IMT can occur in almost any part of the body but is most commonly found in the lung, orbit (eye socket), peritoneum (lining of the abdominal cavity and internal organs), and mesentery. Signs and symptoms vary depending on the site of the tumor. Some people with an IMT are asymptomatic, while others may have nonspecific respiratory symptoms, fever, or pain. IMTs may recur, and occasionally become locally invasive and/or spread (metastasize) to other parts of the body. The underlying cause of IMTs is poorly understood. Some cases have been linked to translocations involving the ALK gene. Treatment involves surgical removal when possible, although there are reports of treatment with oral steroids and radiation therapy.
Question: What is (are) Systemic scleroderma ?

Answer: Systemic scleroderma is an autoimmune disorder that affects the skin and internal organs. It is characterized by the buildup of scar tissue (fibrosis) in the skin and other organs. The fibrosis is caused by the body's production of too much collagen, which normally strengthens and supports connective tissues. The signs and symptoms of systemic scleroderma usually begin with episodes of Raynaud's phenomenon, which can occur weeks to years before fibrosis. This may be followed by puffy or swollen hands before the skin becomes thickened and hard. Fibrosis can also affect internal organs and can lead to impairment or failure of the affected organs. The most commonly affected organs are the esophagus, heart, lungs, and kidneys. There are three types of systemic scleroderma, defined by the tissues affected in the disorder. Diffuse cutaneous systemic sclerosis Limited cutaneous systemic sclerosis (which includes CREST syndrome) Limited systemic sclerosis (systemic sclerosis sine scleroderma)
Question: What are the treatments for Microcystic adnexal carcinoma ?

Answer: Is radiation therapy a recommended treatment for microcystic adnexal carcinoma? Unfortunately, because microcystic adnexal carcinoma is a rare cancer, there is currently not enough information to determine if radiation therapy is an effective treatment for this disease.  There are no guidelines for the use of radiation therapy as treatment for microcystic adnexal carcinoma, and little is known about the dose of radiation that might be needed to be effective.  Two articles studying a total of 17 patients receiving radiation therapy for microcystic adnexal carcinoma have suggested that there may be a benefit of radiation therapy for decreasing the chances of the tumor regrowing (recurrence), and the authors suggest that this treatment could be considered if there is evidence that cancer cells remain after surgery, or in situations where additional surgery cannot be done.  However, another article raises concerns about the use of radiation therapy considering the small number of patients studied, the report of one patient's disease potentially worsening after radiation therapy, and the belief that exposure to radiation may be a risk factor for the initial development of this tumor.
Question: What causes Dihydrolipoamide dehydrogenase deficiency ?

Answer: What causes dihydrolipoamide dehydrogenase deficiency? Dihydrolipoamide dehydrogenase (DLD) deficiency is caused by changes (mutations) in the DLD gene. This gene gives the body instructions to make an enzyme called dihydrolipoamide dehydrogenase (DLD). DLD is one part of 3 different groups of enzymes that work together (enzyme complexes). These enzyme complexes are involved in breaking down amino acids commonly found in protein-rich foods, and in other reactions that help to convert energy from food into a form that our cells can use. Mutations in the DLD gene impair the function of DLD, preventing the 3 enzyme complexes from functioning properly. This causes a build-up of molecules that are normally broken down, which in turn leads to tissue damage, lactic acidosis and other chemical imbalances. The brain is especially sensitive to the buildup of molecules and lack of cellular energy, which is why there are neurological problems associated with DLD deficiency.
Question: What are the treatments for Chapare Hemorrhagic Fever (CHHF) ?

Answer: Supportive therapy is important in CHHF. This includes: 
    
    - maintenance of hydration 
    - management of shock 
    - sedation 
    - pain relief 
    - usual precautions for patients with bleeding disorders 
    - transfusions (when necessary) 
    
   
Use of convalescent plasma therapy for treatment of AHF reduces mortality significantly and anecdotal evidence shows that the antiviral drug ribavirin may also hold promise for treating AHF. Ribavirin has also been considered for preventing development of disease in people exposed to other arenaviruses. 
   Recovery 
   
The precise mortality of CHHF is unknown and the only described case was fatal. 
   
Patients who have suffered from other arenaviruses may continue to excrete virus in urine or semen for weeks after recovery. For this reason, these fluids should be monitored for infectivity, since convalescent patients have the potential to infect others (particularly sexual partners) via these fluids.
Question: what research (or clinical trials) is being done for Alzheimer's Disease ?

Answer: The National Institute of Neurological Disorders and Stroke (NINDS) supports basic and translational research related to AD through grants to major medical institutions across the country. Current studies are investigating how the development of beta amyloid plaques damages neurons, and how abnormalities in tau proteins create the characteristic neurofibrillary tangles of AD. Other research is exploring the impact of risk factors associated with the development of AD, such as pre-existing problems with blood flow in the blood vessels of the brain. Most importantly, the NINDS supports a number of studies that are developing and testing new and novel therapies that can relieve the symptoms of AD and potentially lead to a cure.
                
On May 15, 2012 the Obama Administration announced the release of the National Alzheimers Plan. U.S. Secretary of Health and Human Services Kathleen Sebelius reaffirmed our nations commitment to conquering Alzheimers disease and related dementias, with a specific goal of finding effective ways to prevent and treat the disease by 2025.
Question: What is (are) 15q24 microdeletion ?

Answer: 15q24 microdeletion is a chromosomal change in which a small piece of chromosome 15 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q24.  15q24 microdeletion is associated with mild to moderate intellectual disability and delayed speech development. Other common signs and symptoms include short stature, weak muscle tone (hypotonia), and skeletal abnormalities including loose (lax) joints. Affected males may have genital abnormalities, which can include an unusually small penis (micropenis) and the opening of the urethra on the underside of the penis (hypospadias). Affected individuals also have distinctive facial features such as a high front hairline, broad eyebrows, widely set eyes (hypertelorism), outside corners of the eyes that point downward (downslanting palpebral fissures), a broad nasal bridge, a full lower lip, and a long, smooth space between the upper lip and nose (philtrum).
Question: What are the genetic changes related to congenital hepatic fibrosis ?

Answer: Syndromes of which congenital hepatic fibrosis is a feature may be caused by changes in many different genes. The gene changes that cause isolated congenital hepatic fibrosis are unknown.  Congenital hepatic fibrosis is caused by problems in the development of the portal veins and bile ducts. These problems include malformation of embryonic structures called ductal plates. Each ductal plate is a cylinder of cells surrounding branches of the portal veins. During development before birth, the ductal plates normally develop into the network of bile ducts. In congenital hepatic fibrosis, the development of the ductal plates does not proceed normally, resulting in the persistence of immature bile ducts. Branching of the portal vein network also proceeds abnormally, and excess fibrous tissue develops in the portal tracts.  The malformation of the portal veins and bile ducts disrupts the normal flow of blood and bile, which leads to the progressive signs and symptoms of congenital hepatic fibrosis.
Question: What is (are) Kidney Failure: Eat Right to Feel Right on Hemodialysis ?

Answer: Sodium is found in salt and other foods. Most canned foods and frozen dinners contain large amounts of sodium. Too much sodium makes you thirsty. But if you drink more fluid, your heart has to work harder to pump the fluid through your body. Over time, this can cause high blood pressure and congestive heart failure.
                
Try to eat fresh foods that are naturally low in sodium Look for products labeled low sodium.
                
Do not use salt substitutes because they contain potassium. Talk with a dietitian about spices you can use to flavor your food. The dietitian can help you find spice blends without sodium or potassium.
                

                
Talk With a Dietitian   Talk with a dietitian about spices and other healthy foods you can use to flavor your diet. List them on the lines below.   Spice: _____________________________   Spice: _____________________________   Spice: _____________________________   Food: _____________________________   Food: _____________________________
Question: What are the treatments for Acquired Cystic Kidney Disease ?

Answer: If acquired cystic kidney disease is not causing complications, a person does not need treatment. A health care provider will treat infections with antibioticsmedications that kill bacteria. If large cysts are causing pain, a health care provider may drain the cyst using a long needle inserted into the cyst through the skin.
                
When a surgeon transplants a new kidney into a patient's body to treat kidney failure, acquired cystic kidney disease in the damaged kidneys, which usually remain in place after a transplant, often disappears.
                
A surgeon may perform an operation to remove tumors or suspected tumors. In rare cases, a surgeon performs an operation to stop cysts from bleeding.
                
Have Regular Screenings to Look for Cyst or Tumor Growth   Some health care providers recommend all people with end-stage kidney disease get screened for kidney cancer using CT scans or MRIs after 3 years of dialysis. People with acquired cystic kidney disease should talk with their health care provider about when to begin screening.
Question: What to do for Graves' Disease ?

Answer: - Graves disease is the most common cause of hyperthyroidism in the United States.  - In Graves disease, the immune system stimulates the thyroid gland to make too much thyroid hormone.  - Common symptoms of hyperthyroidism include nervousness or irritability, fatigue or muscle weakness, heat intolerance, trouble sleeping, hand tremors, rapid and irregular heartbeat, frequent bowel movements or diarrhea, weight loss, and goiter.  - People with Graves disease may also have bulging eyes, a condition called Graves ophthalmopathy (GO).  - Graves disease is most often treated with radioiodine therapy, which gradually destroys the cells that make up the thyroid gland. Anti-thyroid medications and surgery to remove the thyroid are sometimes used.  - The eye problems associated with Graves disease may require separate treatment.  - A pregnant woman who has been treated with surgery or radioactive iodine prior to becoming pregnant should inform her health care provider so her baby can be monitored for thyroid-related problems later in the pregnancy.
Question: What are the symptoms of Adult Non-Hodgkin Lymphoma ?

Answer: Signs and symptoms of adult non-Hodgkin lymphoma include swelling in the lymph nodes, fever, night sweats, weight loss, and fatigue. These signs and symptoms may be caused by adult non-Hodgkin lymphoma or by other conditions. Check with your doctor if you have any of the following:         - Swelling in the lymph nodes in the neck, underarm, groin, or stomach.    - Fever for no known reason.    - Recurring night sweats.    - Feeling very tired.    - Weight loss for no known reason.    - Skin rash or itchy skin.    - Pain in the chest, abdomen, or bones for no known reason.        When fever, night sweats, and weight loss occur together, this group of symptoms is called B symptoms.    Other signs and symptoms of adult non-Hodgkin lymphoma may occur and depend on the following:          - Where the cancer forms in the body.    - The size of the tumor.    - How fast the tumor grows.
Question: What is the outlook for Childhood Rhabdomyosarcoma ?

Answer: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following:         - The patient's age.     - Where in the body the tumor started.    - The size of the tumor at the time of diagnosis.    - Whether the tumor has been completely removed by surgery.    - The type of rhabdomyosarcoma (embryonal, alveolar, or anaplastic).    - Whether there are certain changes in the genes.    - Whether the tumor had spread to other parts of the body at the time of diagnosis.    - Whether the tumor was in the lymph nodes at the time of diagnosis.    - Whether the tumor responds to chemotherapy and/or radiation therapy.        For patients with recurrent cancer, prognosis and treatment also depend on the following:         - Where in the body the tumor recurred (came back).    - How much time passed between the end of cancer treatment and when the cancer recurred.    - Whether the tumor was treated with radiation therapy.
Question: What is (are) Pregnancy and Substance Abuse ?

Answer: When you are pregnant, you are not just "eating for two." You also breathe and drink for two, so it is important to carefully consider what you give to your baby. If you smoke, use alcohol or take illegal drugs, so does your unborn baby.    First, don't smoke. Smoking during pregnancy passes nicotine and cancer-causing drugs to your baby. Smoke also keeps your baby from getting nourishment and raises the risk of stillbirth or premature birth. Don't drink alcohol. There is no known safe amount of alcohol a woman can drink while pregnant. Alcohol can cause life-long physical and behavioral problems in children, including fetal alcohol syndrome. Don't use illegal drugs. Using illegal drugs may cause underweight babies, birth defects or withdrawal symptoms after birth.    If you are pregnant and you smoke, drink alcohol or do drugs, get help. Your health care provider can recommend programs to help you quit. You and your baby will be better off.    Dept. of Health and Human Services Office on Women's Health
Question: What is (are) Sprains and Strains ?

Answer: A sprain is a stretched or torn ligament. Ligaments are tissues that connect bones at a joint. Falling, twisting, or getting hit can all cause a sprain. Ankle and wrist sprains are common. Symptoms include pain, swelling, bruising, and being unable to move your joint. You might feel a pop or tear when the injury happens.     A strain is a stretched or torn muscle or tendon. Tendons are tissues that connect muscle to bone. Twisting or pulling these tissues can cause a strain. Strains can happen suddenly or develop over time. Back and hamstring muscle strains are common. Many people get strains playing sports. Symptoms include pain, muscle spasms, swelling, and trouble moving the muscle.     At first, treatment of both sprains and strains usually involves resting the injured area, icing it, wearing a bandage or device that compresses the area, and medicines. Later treatment might include exercise and physical therapy.     NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
Question: Do you have information about Quitting Smoking

Answer: Summary : Tobacco use is the most common preventable cause of death. About half of the people who don't quit smoking will die of smoking-related problems. Quitting smoking is important for your health.    Soon after you quit, your circulation begins to improve, and your blood pressure starts to return to normal. Your sense of smell and taste return, and it's easier for you to breathe. In the long term, giving up tobacco can help you live longer. Your risk of getting cancer decreases with each year you stay smoke-free.    Quitting is not easy. You may have short-term affects such as weight gain, irritability, and anxiety. Some people try several times before they succeed. There are many ways to quit smoking. Some people stop "cold turkey." Others benefit from step-by-step manuals, counseling, or medicines or products that help reduce nicotine addiction. Some people think that switching to e-cigarettes can help you quit smoking, but that has not been proven. Your health care provider can help you find the best way for you to quit.    NIH: National Cancer Institute
Question: What is (are) Uterine Fibroids ?

Answer: Uterine fibroids are the most common benign tumors in women of childbearing age. Fibroids are made of muscle cells and other tissues that grow in and around the wall of the uterus, or womb. The cause of fibroids is unknown. Risk factors include being African American or being overweight.    Many women with fibroids have no symptoms. If you do have symptoms, they may include       - Heavy or painful periods or bleeding between periods     - Feeling "full" in the lower abdomen     - Urinating often     - Pain during sex     - Lower back pain     - Reproductive problems, such as infertility, multiple miscarriages or early labor       Your health care provider may find fibroids during a gynecological exam or by using imaging tests. Treatment includes drugs that can slow or stop their growth, or surgery. If you have no symptoms, you may not even need treatment. Many women with fibroids can get pregnant naturally. For those who cannot, infertility treatments may help.    NIH: National Institute of Child Health and Human Development
Question: What is (are) Orofaciodigital syndrome 2 ?

Answer: Orofaciodigital syndrome (OFDS) type 2 is a genetic condition that was first described in 1941 by Mohr. OFDS type 2 belongs to a group of disorders called orofaciodigital syndromes (OFDS) characterized by mouth malformations, unique facial findings, and abnormalities of the fingers and/or toes. Other organs might be affected in OFDS, defining the specific types. OFDS type 2 is very similar to oral-facial-digital syndrome (OFDS) type 1. However, the following are not found in OFDS type 1: (1) absence of hair and skin abnormalities; (2) presence of more than one fused big toe on each foot; (3) involvement of the central nervous system; and (4) heart malformations. Although it is known that OFDS type 2 is genetic, the exact gene that causes the syndrome has not been identified. The condition is believed to be inherited in an autosomal recessive pattern. Treatment is based on the symptoms present in the patient.
Question: How to diagnose Book syndrome ?

Answer: How is Book syndrome diagnosed? Due to the rarity of Book syndrome and scarcity of reports in the medical literature, we are unaware of specific information about diagnosing Book syndrome. In general, ectodermal dysplasias are diagnosed by the presence of specific symptoms affecting the hair, nails, sweat glands, and/or teeth. When a person has at least two types of abnormal ectodermal features (e.g., malformed teeth and extremely sparse hair), the person is typically identified as being affected by an ectodermal dysplasia. Specific genetics tests to diagnose ectodermal dysplasia are available for only a limited number of ectodermal dysplasias. Unfortunately, there currently is no genetic test for Book syndrome because the gene responsible for the condition has not yet been identified. People who are interested in learning more about a diagnosis of ectodermal dysplasia for themselves or family members should speak with their dermatologist and/or dentist. These specialists can help determine whether a person has signs and/or symptoms of ectodermal dysplasia.
Question: What is (are) Chondrodysplasia punctata 2 X-linked dominant ?

Answer: X-linked dominant chondrodysplasia punctata (CDPX2), also known as Conradi-Hnermann-Happle syndrome, is a rare form of skeletal dysplasia characterized by skeletal malformations, skin abnormalities, cataracts and short stature. The specific symptoms and severity of the disorder may vary greatly from one individual to another. CDPX2 is caused by mutations in the emopamil binding protein gene, EBP. In many cases, this mutation occurs randomly, for no apparent reason (i.e., new mutation). The condition  is inherited as an X-linked dominant trait and occurs almost exclusively in females. Treatment of CDPX2 is directed toward the specific symptoms that present in each individual. Such treatment may require the coordinated efforts of a team of medical professionals, including physicians who diagnose and treat disorders of the skeleton, joints, muscles, and related tissues (orthopedists); skin specialists (dermatologists); eye specialists; and/or other health care professionals.
Question: What are the treatments for Limb-girdle muscular dystrophy, type 2C ?

Answer: What treatment is available for limb-girdle muscular dystrophy? There is no specific treatment for limb-girdle muscular dystrophy. Management of the condition is based on the person's symptoms and subtype (if known). The GeneReview article on limb-girdle muscular dystrophy lists the following approach for medical management of the condition: Weight control to avoid obesity Physical therapy and stretching exercises to promote mobility and prevent contractures Use of mechanical aids such as canes, walkers, orthotics, and wheelchairs as needed to help ambulation and mobility Monitoring and surgical intervention as needed for orthopedic complications such as foot deformity and scoliosis Monitoring of respiratory function and use of respiratory aids when indicated Monitoring for evidence of cardiomyopathy in those subtypes with known occurrence of cardiac involvement Social and emotional support and stimulation to maximize a sense of social involvement and productivity and to reduce the sense of social isolation common in these disorders