umarjan11/Medical-qna huggingface dataset:
Question: What is (are) Pulmonary vein stenosis ?

Answer: Pulmonary vein stenosis is a very rare and serious condition in which there is a blockage in the blood vessels that bring oxygen-rich blood from the lungs back to the heart. This condition can be isolated to one vein, but often affects multiple veins. Stenosis occurs when there is an abnormal thickening and narrowing of the walls of the veins. Pulmonary vein stenosis is a progressive condition and may lead to total obstruction to a blood vessel. Most commonly, all of the pulmonary veins of one lung are affected, causing pulmonary hypertension and pulmonary arterial hypertension. Surgery and catheterization to widen the narrow veins is usually a short-term solution since the obstruction typically recurs.
Question: What is (are) AL amyloidosis ?

Answer: AL amyloidosisis the most common form of amyloidosis, a group of disorders in which an abnormal protein called amyloid builds up in tissues and organs. The signs and symptoms of AL amyloidosis vary among patients because the build up may occur in the tongue, intestines, muscles, joints, nerves, skin, ligaments, heart, liver, spleen, or kidneys. To diagnose AL amyloidosis, healthcare professionals use blood or urine tests to identify signs of amyloid protein and a biopsy to confirm the diagnosis. Treatment may include chemotherapy directed at the abnormal plasma cells, stem cell transplantation, or other treatments based on which symptoms have developed.
Question: What is (are) Preauricular sinus ?

Answer: Preauricular sinus is a common birth defect that may be seen during a routine exam of a newborn. It generally appears as a tiny skin-lined hole or pit, often just in front of the upper ear where the cartilage of the ear rim meets the face. It may occur on one side (unilateral) or both sides (bilateral) of the ear. Affected people usually do not have any additional symptoms unless it becomes infected. Preauricular sinus may occur sporadically during the development of an embryo or it may be inherited in an autosomal dominant manner with reduced penetrance. Less often, it occurs as a feature of another condition or syndrome. Treatment may include antibiotics for infection and/or surgery to remove the sinus.
Question: What is (are) KBG syndrome ?

Answer: KBG syndrome is a rare condition characterized mainly by skeletal abnormalities, distinctive facial features, and intellectual disability. Specific signs and symptoms may include delayed bone age; abnormalities of the bones of the spine, ribs, and/or hands; large teeth (macrodontia); short stature; developmental delay; and behavioral or emotional issues. Less common features may include hearing loss, seizures, and congenital heart defects. In some cases, KBG syndrome is caused by a mutation in the ANKRD11 gene and is inherited in an autosomal dominant manner. In other cases, the genetic cause is unclear. Some affected people inherit the condition from a parent, while in other people it occurs sporadically.
Question: What causes Vasculitis ?

Answer: Vasculitis occurs if your immune system attacks your blood vessels by mistake. What causes this to happen isn't fully known.
                
A recent or chronic (ongoing) infection may prompt the attack. Your body also may attack its own blood vessels in reaction to a medicine.
                
Sometimes an autoimmune disorder triggers vasculitis. Autoimmune disorders occur if the immune system makes antibodies (proteins) that attack and damage the body's own tissues or cells. Examples of these disorders include lupus, rheumatoid arthritis, and scleroderma. You can have these disorders for years before developing vasculitis.
                
Vasculitis also may be linked to certain blood cancers, such as leukemia and lymphoma.
Question: What is (are) Spinal Cord Infarction ?

Answer: Spinal cord infarction is a stroke either within the spinal cord or the arteries that supply it. It is caused by arteriosclerosis or a thickening or closing of the major arteries to the spinal cord. Frequently spinal cord infarction is caused by a specific form of arteriosclerosis called atheromatosis, in which a deposit or accumulation of lipid-containing matter forms within the arteries. Symptoms, which generally appear within minutes or a few hours of the infarction, may include intermittent sharp or burning back pain, aching pain down through the legs, weakness in the legs, paralysis, loss of deep tendon reflexes, loss of pain and temperature sensation, and incontinence.
Question: What is (are) Myotonia Congenita ?

Answer: Myotonia congenita is an inherited neuromuscular disorder characterized by the inability of muscles to quickly relax after a voluntary contraction. The condition is present from early childhood, but symptoms can be mild. Most children will be 2 or 3 years old when parents first notice their muscle stiffness, particularly in the legs, often provoked by sudden activity after rest. The disease doesnt cause muscle wasting; in fact, it may cause muscle enlargement. Muscle strength is increased. There are two forms of the disorder: Becker-type, which is the most common form; and Thomsens disease, which is a rare and milder form. The disorder is cause by mutations in a gene responsible for shutting off electrical excitation in the muscles.
Question: What is (are) Melkersson-Rosenthal Syndrome ?

Answer: Melkersson-Rosenthal syndrome is a rare neurological disorder characterized by recurring facial paralysis, swelling of the face and lips (usually the upper lip), and the development of folds and furrows in the tongue. Onset is in childhood or early adolescence. After recurrent attacks (ranging from days to years in between), swelling may persist and increase, eventually becoming permanent. The lip may become hard, cracked, and fissured with a reddish-brown discoloration. The cause of Melkersson-Rosenthal syndrome is unknown, but there may be a genetic predisposition. It can be symptomatic of Crohn's disease or sarcoidosis.
Question: What is (are) Syncope ?

Answer: Syncope is a medical term used to describe a temporary loss of consciousness due to the sudden decline of blood flow to the brain. Syncope is commonly called fainting or passing out. If an individual is about to faint, he or she will feel dizzy, lightheaded, or nauseous and their field of vision may white out or black out. The skin may be cold and clammy. The person drops to the floor as he or she loses consciousness. After fainting, an individual may be unconscious for a minute or two, but will revive and slowly return to normal. Syncope can occur in otherwise healthy people and affects all age groups, but occurs more often in the elderly.
                
Vasovagal
                
Carotid sinus
                
Situational
Question: What are the treatments for Friedreich ataxia ?

Answer: These resources address the diagnosis or management of Friedreich ataxia:  - Friedreich's Ataxia Research Alliance: Clinical Care Guidelines  - Gene Review: Gene Review: Friedreich Ataxia  - Genetic Testing Registry: Friedreich ataxia 1  - MedlinePlus Encyclopedia: Friedreich's Ataxia  - MedlinePlus Encyclopedia: Hypertrophic Cardiomyopathy  - National Institute of Neurological Disorders and Stroke: Friedreich's Ataxia Fact Sheet   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 Senior-Lken syndrome ?

Answer: These resources address the diagnosis or management of Senior-Lken syndrome:  - Genetic Testing Registry: Senior-Loken syndrome 1  - Genetic Testing Registry: Senior-Loken syndrome 3  - Genetic Testing Registry: Senior-Loken syndrome 4  - Genetic Testing Registry: Senior-Loken syndrome 5  - Genetic Testing Registry: Senior-Loken syndrome 6  - Genetic Testing Registry: Senior-Loken syndrome 7   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 Bannayan-Riley-Ruvalcaba syndrome ?

Answer: These resources address the diagnosis or management of Bannayan-Riley-Ruvalcaba syndrome:  - Gene Review: Gene Review: PTEN Hamartoma Tumor Syndrome (PHTS)  - Genetic Testing Registry: Bannayan-Riley-Ruvalcaba syndrome  - University of Iowa: Bannayan-Ruvalcaba-Riley Syndrome (BRRS): A Guide for Patients and Their Families   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) spinocerebellar ataxia type 6 ?

Answer: Spinocerebellar ataxia type 6 (SCA6) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA6 include speech difficulties, involuntary eye movements (nystagmus), and double vision. Over time, individuals with SCA6 may develop loss of coordination in their arms, tremors, and uncontrolled muscle tensing (dystonia).  Signs and symptoms of SCA6 typically begin in a person's forties or fifties but can appear anytime from childhood to late adulthood. Most people with this disorder require wheelchair assistance by the time they are in their sixties.
Question: How many people are affected by alpha-1 antitrypsin deficiency ?

Answer: Alpha-1 antitrypsin deficiency occurs worldwide, but its prevalence varies by population. This disorder affects about 1 in 1,500 to 3,500 individuals with European ancestry. It is uncommon in people of Asian descent. Many individuals with alpha-1 antitrypsin deficiency are likely undiagnosed, particularly people with a lung condition called chronic obstructive pulmonary disease (COPD). COPD can be caused by alpha-1 antitrypsin deficiency; however, the alpha-1 antitrypsin deficiency is often never diagnosed. Some people with alpha-1 antitrypsin deficiency are misdiagnosed with asthma.
Question: What are the treatments for Weill-Marchesani syndrome ?

Answer: These resources address the diagnosis or management of Weill-Marchesani syndrome:  - Gene Review: Gene Review: Weill-Marchesani Syndrome  - Genetic Testing Registry: Weill-Marchesani syndrome  - Genetic Testing Registry: Weill-Marchesani syndrome 1  - Genetic Testing Registry: Weill-Marchesani syndrome 2  - Genetic Testing Registry: Weill-Marchesani syndrome 3   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 Chanarin-Dorfman syndrome ?

Answer: Mutations in the ABHD5 gene cause Chanarin-Dorfman syndrome. The ABHD5 gene provides instructions for making a protein that turns on (activates) the ATGL enzyme, which breaks down triglycerides. Triglycerides are the main source of stored energy in cells. These fats must be broken down into simpler molecules called fatty acids before they can be used for energy.  ABHD5 gene mutations impair the protein's ability to activate the ATGL enzyme. An inactive enzyme makes the breakdown of triglycerides impossible, causing them to accumulate in tissues throughout the body. The buildup of triglycerides results in the signs and symptoms of Chanarin-Dorfman syndrome.
Question: Is Gillespie syndrome inherited ?

Answer: In some cases, including those in which Gillespie syndrome is caused by PAX6 gene mutations, the condition occurs in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Some affected individuals inherit the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.  Gillespie syndrome can also be inherited in an autosomal recessive pattern, which means both copies of a gene in each cell have mutations. The gene or genes involved in these cases are unknown. 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.
Question: What is (are) Hepatitis B: What Asian and Pacific Islander Americans Need to Know ?

Answer: Hepatitis B is a liver disease spread through contact with blood, semen, or other body fluids from a person infected with the hepatitis B virus. The disease is most commonly spread from an infected mother to her infant at birth. Hepatitis B is also spread through sex, wound-to-wound contact, and contact with items that may have blood on them, such as shaving razors, toothbrushes, syringes, and tattoo and body piercing needles.
                
Hepatitis B is not spread through casual contact such as shaking hands or hugging; nor is it spread by sharing food or beverages, by sneezing and coughing, or through breastfeeding.
Question: What is (are) Primary Hyperparathyroidism ?

Answer: High PTH levels trigger the bones to release increased amounts of calcium into the blood, causing blood calcium levels to rise above normal. The loss of calcium from bones may weaken the bones. Also, the small intestine may absorb more calcium from food, adding to the excess calcium in the blood. In response to high blood calcium levels, the kidneys excrete more calcium in the urine, which can lead to kidney stones.
                
High blood calcium levels might contribute to other problems, such as heart disease, high blood pressure, and difficulty with concentration. However, more research is needed to better understand how primary hyperparathyroidism affects the cardiovascular systemthe heart and blood vesselsand the central nervous systemthe brain and spinal cord.
Question: What is (are) Amyloidosis and Kidney Disease ?

Answer: Amyloidosis is a rare disease that occurs when amyloid proteins are deposited in tissues and organs. Amyloid proteins are abnormal proteins that the body cannot break down and recycle, as it does with normal proteins. When amyloid proteins clump together, they form amyloid deposits. The buildup of these deposits damages a persons organs and tissues. Amyloidosis can affect different organs and tissues in different people and can affect more than one organ at the same time. Amyloidosis most frequently affects the kidneys, heart, nervous system, liver, and digestive tract. The symptoms and severity of amyloidosis depend on the organs and tissues affected.
Question: What is (are) Diabetic Kidney Disease ?

Answer: Diabetic kidney disease, also called diabetic nephropathy, is kidney disease caused by diabetes. Even when well controlled, diabetes can lead to chronic kidney disease (CKD) and kidney failure, described as end-stage kidney disease or ESRD when treated with a kidney transplant or blood-filtering treatments called dialysis.
                
Diabetes affects 25.8 million people of all ages in the United States.1 As many as 40 percent of people who have diabetes are expected to develop CKD.2 Diabetes, the most common cause of kidney failure in the United States, accounts for nearly 44 percent of new cases of kidney failure, as illustrated in Figure 1.3
Question: What are the symptoms of Small Cell Lung Cancer ?

Answer: Signs and symptoms of small cell lung cancer include coughing, shortness of breath, and chest pain. These and other signs and symptoms may be caused by small cell lung cancer or by other conditions. Check with your doctor if you have any of the following:         - Chest discomfort or pain.    - A cough that doesnt go away or gets worse over time.     - Trouble breathing.    - Wheezing.    -  Blood in sputum (mucus coughed up from the lungs).     - Hoarseness.    - Trouble swallowing.    - Loss of appetite.    - Weight loss for no known reason.    - Feeling very tired.     - Swelling in the face and/or veins in the neck.
Question: What is the outlook for Pituitary Tumors ?

Answer: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) depends on the type of tumor and whether the tumor has spread into other areas of the central nervous system (brain and spinal cord) or outside of the central nervous system to other parts of the body.   Treatment options depend on the following:         - The type and size of the tumor.    - Whether the tumor is making hormones.    - Whether the tumor is causing problems with vision or other signs or symptoms.    - Whether the tumor has spread into the brain around the pituitary gland or to other parts of the body.    - Whether the tumor has just been diagnosed or has recurred (come back).
Question: Who is at risk for Male Breast Cancer? ?

Answer: Radiation exposure, high levels of estrogen, and a family history of breast cancer can increase a mans risk of breast cancer. 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 doctor if you think you may be at risk. Risk factors for breast cancer in men may include the following:         - Being exposed to radiation.     - Having a disease linked to high levels of estrogen in the body, such as cirrhosis (liver disease) or Klinefelter syndrome (a genetic disorder.)    - Having several female relatives who have had breast cancer, especially relatives who have an alteration of the BRCA2 gene.
Question: What is (are) Heartburn ?

Answer: Heartburn is a painful burning feeling in your chest or throat. It happens when stomach acid backs up into your esophagus, the tube that carries food from your mouth to your stomach.    If you have heartburn more than twice a week, you may have GERD. But you can have GERD without having heartburn.    Pregnancy, certain foods, alcohol, and some medications can bring on heartburn. Treating heartburn is important because over time reflux can damage the esophagus.    Over-the-counter medicines may help. If the heartburn continues, you may need prescription medicines or surgery.     If you have other symptoms such as crushing chest pain, it could be a heart attack. Get help immediately.
Question: What is (are) Russell-Silver syndrome ?

Answer: Russell-Silver syndrome (RSS) is a congenital disorder that causes poor growth; low birth weight; short height; and size differences (asymmetry) of parts of the body. Other signs and symptoms may include poor appetite; low blood sugar (hypoglycemia) due to feeding difficulties; a small, triangular face with distinctive facial features; clinodactyly (curved finger); digestive system abnormalities; delayed development; and/or learning disabilities. The genetic causes of RSS are complex and relate to certain genes that control growth. Most cases are not inherited from a parent and occur sporadically. In rare cases, it may be inherited in an autosomal dominant or autosomal recessive manner.
Question: What are the treatments for Cold urticaria ?

Answer: How might cold urticaria be treated? The treatment of cold urticaria generally consists of patient education, avoiding scenarios that may trigger a reaction (i.e. cold temperatures, cold water), and/or medications. Prophylactic treatment with high-dose antihistimines may be recommended when exposure to cold is expected and can not be avoided. Additionally, affected people are often told to carry an epinephrine autoinjector due to the increased risk of anaphylaxis. Several other therapies have reportedly been used to treat cold urticaria with varying degrees of success. These include: Leukotriene antagonists Ciclosporin Systemic corticosteroids Dapsone Oral antibiotics Synthetic hormones Danazol
Question: Is Pierson syndrome inherited ?

Answer: How is Pierson syndrome inherited? Pierson syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier
Question: What is (are) Merkel cell carcinoma ?

Answer: Merkel cell carcinoma (MCC) is a rare type of skin cancer that usually appears as a single, painless, lump on sun-exposed skin. It is typically red or violet in color. It is considered fast-growing and can spread quickly to surrounding tissues, nearby lymph nodes, or more distant parts of the body. Merkel cell polyomavirus has been detected in about 80% of the tumors tested. It is thought that this virus can cause somatic mutations leading to MCC when the immune system is weakened. Other risk factors for developing MCC include ultraviolet radiation and being over 50 years of age. Treatment should begin early and depends on the location and size of the cancer, and the extent to which it has spread.
Question: What is (are) X-linked adrenal hypoplasia congenita ?

Answer: X-linked adrenal hypoplasia congenita is an inherited disorder that mainly affects males. It involves many hormone-producing (endocrine) tissues in the body, particularly a pair of small glands on top of each kidney called the adrenal glands. These glands produce a variety of hormones that regulate many essential functions in the body. Congenital adrenal hypoplasia is characterized by adrenal insufficiency, which may be life threatening, and hypogonadotropic hypogonadism. Congenital adrenal hypoplasia is caused by mutations in the NR0B1 gene. It is inherited in an X-linked recessive pattern.
Question: What causes Cri du chat syndrome ?

Answer: What causes cri du chat syndrome? Cri du chat syndrome is caused by a deletion of the end of the short (p) arm of chromosome 5. This chromosomal change is written as 5p-. The size of the deletion varies among affected individuals but studies suggest that larger deletions tend to result in more severe intellectual disability and developmental delay than smaller deletions. The signs and symptoms of cri du chat syndrome are probably related to the loss of multiple genes on the short arm of chromosome 5. Researchers believe that the loss of a specific gene, CTNND2, is associated with severe intellectual disability in some people with this condition. They are working to determine how the loss of other genes in this region contributes to the characteristic features of cri du chat syndrome.
Question: What are the treatments for Fanconi Bickel syndrome ?

Answer: How might Fanconi Bickel syndrome be treated? Management of Fanconi Bickel syndrome (FBS) generally focuses on the signs and symptoms of the condition. Treatment includes replacement of water and electrolytes, and vitamin D and phosphate supplements for prevention of hypophosphatemic rickets. Although there is limited data on the effectiveness of dietary treatment for this condition, it is recommended that affected individuals follow a galactose-restricted diabetic diet, with fructose as the main source of carbohydrate. Diet and supplements may alleviate some of the signs and symptoms of the condition but generally do not improve growth, resulting in short stature in adulthood.