umarjan11/Medical-qna huggingface dataset:
Question: What is (are) gray platelet syndrome ?

Answer: Gray platelet syndrome is a bleeding disorder associated with abnormal platelets, which are blood cell fragments involved in blood clotting. People with this condition tend to bruise easily and have an increased risk of nosebleeds (epistaxis). They may also experience abnormally heavy or extended bleeding following surgery, dental work, or minor trauma. Women with gray platelet syndrome often have irregular, heavy periods (menometrorrhagia). These bleeding problems are usually mild to moderate, but they have been life-threatening in a few affected individuals.  A condition called myelofibrosis, which is a buildup of scar tissue (fibrosis) in the bone marrow, is another common feature of gray platelet syndrome. Bone marrow is the spongy tissue in the center of long bones that produces most of the blood cells the body needs, including platelets. The scarring associated with myelofibrosis damages bone marrow, preventing it from making enough blood cells. Other organs, particularly the spleen, start producing more blood cells to compensate; this process often leads to an enlarged spleen (splenomegaly).
Question: What are the genetic changes related to branchio-oculo-facial syndrome ?

Answer: Branchio-oculo-facial syndrome is caused by mutations in the TFAP2A gene. This gene provides instructions for making a protein called transcription factor AP-2 alpha (AP-2). As its name suggests, this protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Transcription factor AP-2 regulates genes that are involved in several cellular processes, such as cell division and the self-destruction of cells that are no longer needed (apoptosis). This protein is critical during development before birth, particularly of the branchial arches, which form the structures of the face and neck.  Most TFAP2A gene mutations that cause branchio-oculo-facial syndrome change single protein building blocks (amino acids) in the transcription factor AP-2 protein. These changes tend to occur in a region of the protein that allows it to bind to DNA. Without this function, transcription factor AP-2 cannot control the activity of genes during development, which disrupts the development of the eyes, ears, and face and causes the features of branchio-oculo-facial syndrome.
Question: What is (are) cyclic neutropenia ?

Answer: Cyclic neutropenia is a disorder that causes frequent infections and other health problems in affected individuals. People with this condition have recurrent episodes of neutropenia during which there is a shortage (deficiency) of neutrophils. Neutrophils are a type of white blood cell that plays a role in inflammation and in fighting infection. The episodes of neutropenia are apparent at birth or soon afterward. For most affected individuals, neutropenia recurs every 21 days and lasts about 3 to 5 days.  Neutropenia makes it more difficult for the body to fight off pathogens such as bacteria and viruses, so people with cyclic neutropenia typically develop recurrent infections of the sinuses, respiratory tract, and skin. Additionally, people with this condition often develop open sores (ulcers) in the mouth and colon, inflammation of the throat (pharyngitis) and gums (gingivitis), recurrent fever, or abdominal pain. People with cyclic neutropenia have these health problems only during episodes of neutropenia. At times when their neutrophil levels are normal, they are not at an increased risk of infection and inflammation.
Question: Is X-linked sideroblastic anemia and ataxia inherited ?

Answer: This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.  In X-linked recessive inheritance, a female with one altered copy of the gene in each cell is called a carrier. Carriers of an ABCB7 mutation can pass on the mutated gene but do not develop ataxia or other health problems associated with X-linked sideroblastic anemia and ataxia. However, carriers may have abnormally small, pale red blood cells and related changes that can be detected with a blood test.
Question: What are the genetic changes related to retinal arterial macroaneurysm with supravalvular pulmonic stenosis ?

Answer: RAMSVPS is caused by a mutation in the IGFBP7 gene. This gene provides instructions for making a protein called insulin-like growth factor-binding protein 7 (IGFBP7). The IGFBP7 protein is active in the lining of blood vessels (the vascular endothelium). It is thought to help stop a pathway called BRAF signaling, which is involved in directing cell growth.  The IGFBP7 gene mutation that causes RAMSVPS results in an abnormally short IGFBP7 protein that does not function properly. Without normally functioning IGFBP7 protein to control BRAF signaling, this signaling is increased. It is unknown how this increase is related to the specific blood vessel abnormalities that occur in RAMSVPS, or why these abnormalities are confined to the eyes and the pulmonary artery. Researchers suggest that differences in normal levels of IGFBP7 protein in various parts of the body or the presence of other proteins with a similar function in different tissues may account for the specific signs and symptoms of this disorder.
Question: What are the symptoms of Gestational Trophoblastic Disease ?

Answer: Signs of GTD include abnormal vaginal bleeding and a uterus that is larger than normal. These and other signs and symptoms may be caused by gestational trophoblastic disease or by other conditions. Check with your doctor if you have any of the following:         -  Vaginal bleeding not related to menstruation.    -  A uterus that is larger than expected during pregnancy.    - Pain or pressure in the pelvis.    - Severe nausea and vomiting during pregnancy.    - High blood pressure with headache and swelling of feet and hands early in the pregnancy.    - Vaginal bleeding that continues for longer than normal after delivery.    -  Fatigue, shortness of breath, dizziness, and a fast or irregular heartbeat caused by anemia.        GTD sometimes causes an overactive thyroid. Signs and symptoms of an overactive thyroid include the following:         - Fast or irregular heartbeat.    - Shakiness.    - Sweating.    - Frequent bowel movements.    - Trouble sleeping.    - Feeling anxious or irritable.    - Weight loss.
Question: What is (are) Prostate Cancer ?

Answer: Key Points
                    - Prostate cancer is a disease in which malignant (cancer) cells form in the tissues of the prostate.    - Signs of prostate cancer include a weak flow of urine or frequent urination.     - Tests that examine the prostate and blood are used to detect (find) and diagnose prostate cancer.    - Certain factors affect prognosis (chance of recovery) and treatment options.
                
                
                    Prostate cancer is a disease in which malignant (cancer) cells form in the tissues of the prostate.
                    The prostate is a gland in the male reproductive system. It lies just below the bladder (the organ that collects and empties urine) and in front of the rectum (the lower part of the intestine). It is about the size of a walnut and surrounds part of the urethra (the tube that empties urine from the bladder). The prostate gland makes fluid that is part of the semen.      Prostate cancer is most common in older men. In the U.S., about 1 out of 5 men will be diagnosed with prostate cancer.
Question: What is (are) Rotator Cuff Injuries ?

Answer: Your rotator cuff is located in your shoulder area. It is made of muscles and tendons. It helps your shoulder to move and stay stable. Problems with the rotator cuff are common. They include tendinitis, bursitis, and injuries such as tears.    Rotator cuff tendons can become inflamed from frequent use or aging. Sometimes they are injured from a fall on an outstretched hand. Sports or jobs with repeated overhead motion can also damage the rotator cuff. Aging causes tendons to wear down, which can lead to a tear.     Some tears are not painful, but others can be very painful. Treatment for a torn rotator cuff depends on age, health, how severe the injury is, and how long you've had the torn rotator cuff.     Treatment for torn rotator cuff includes:       - Rest    - Heat or cold to the sore area    - Medicines that reduce pain and swelling    - Electrical stimulation of muscles and nerves    - Ultrasound    - Cortisone injection    - Surgery       NIH: National Institute of Arthritis and Musculoskeletal and Skin Disease
Question: Do you have information about Botox

Answer: Summary : Botox is a drug made from a toxin produced by the bacterium Clostridium botulinum. It's the same toxin that causes a life-threatening type of food poisoning called botulism. Doctors use it in small doses to treat health problems, including       - Temporary smoothing of facial wrinkles and improving your appearance    - Severe underarm sweating     - Cervical dystonia - a neurological disorder that causes severe neck and shoulder muscle contractions     - Blepharospasm - uncontrollable blinking     - Strabismus - misaligned eyes     - Chronic migraine    - Overactive bladder       Botox injections work by weakening or paralyzing certain muscles or by blocking certain nerves. The effects last about three to twelve months, depending on what you are treating. The most common side effects are pain, swelling, or bruising at the injection site. You could also have flu-like symptoms, headache, and upset stomach. Injections in the face may also cause temporary drooping eyelids. You should not use Botox if you are pregnant or breastfeeding.
Question: What is (are) Behcet's Syndrome ?

Answer: Behcet's syndrome is a disease that involves vasculitis, which is inflammation of the blood vessels. It causes problems in many parts of the body. The most common symptoms are       -  Sores in the mouth    -  Sores on the sex organs     -  Other skin sores     -  Swelling of parts of the eye    -  Pain, swelling and stiffness of the joints        More serious problems can include meningitis, blood clots, inflammation of the digestive system and blindness.     Doctors aren't sure what causes Behcet's. It is rare in the United States, but is common in the Middle East and Asia. It mainly affects people in their 20s and 30s. Diagnosing Behcet's can take a long time, because symptoms may come and go, and it may take months or even years to have all of the symptoms. There is no cure. Treatment focuses on reducing pain and preventing serious problems. Most people can control symptoms with treatment.    NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
Question: What is (are) Arrhythmia ?

Answer: An arrhythmia is a problem with the rate or rhythm of your heartbeat. It means that your heart beats too quickly, too slowly, or with an irregular pattern. When the heart beats faster than normal, it is called tachycardia. When the heart beats too slowly, it is called bradycardia. The most common type of arrhythmia is atrial fibrillation, which causes an irregular and fast heart beat.    Many factors can affect your heart's rhythm, such as having had a heart attack, smoking, congenital heart defects, and stress. Some substances or medicines may also cause arrhythmias.     Symptoms of arrhythmias include       - Fast or slow heart beat    - Skipping beats    - Lightheadedness or dizziness    - Chest pain    - Shortness of breath     - Sweating        Your doctor can run tests to find out if you have an arrhythmia. Treatment to restore a normal heart rhythm may include medicines, an implantable cardioverter-defibrillator (ICD) or pacemaker, or sometimes surgery.     NIH: National Heart, Lung, and Blood Institute
Question: What causes Carnitine-acylcarnitine translocase deficiency ?

Answer: What causes carnitine-acylcarnitine translocase deficiency? Carnitine-acylcarnitine translocase deficiency occurs when an enzyme, called "carnitine-acylcarnitine translocase" (CAT), is either missing or not working properly. This enzyme's job is to help change certain fats in the food we eat into energy. It also helps to break down fat already stored in the body. Energy from fat keeps us going whenever our bodies run low of their main source of energy, a type of sugar called glucose. Our bodies rely on fat for energy when we don't eat for a stretch of time - like when we miss a meal or when we sleep. When the CAT normal enzyme is missing or not working well, the body cannot use fat for energy, and must rely solely on glucose. Although glucose is a good source of energy, there is a limited amount available. Once the glucose has been used up, the body tries to use fat without success. This leads to low blood sugar, called hypoglycemia, and to the build up of harmful substances in the blood.
Question: What is (are) Virus associated hemophagocytic syndrome ?

Answer: Virus associated hemophagocytic syndrome is a very serious complication of a viral infection. Signs and symptoms of virus associated hemophagocytic syndrome, include high fever, liver problems, enlarged liver and spleen, coagulation factor abnormalities, decreased red or white blood cells and platelets (pancytopenia), and a build-up of histiocytes, a type of immune cell, in various tissues in the body resulting in the destruction of blood-producing cells (histiocytic proliferation with prominent hemophagocytosis).  Diagnosis is based upon the signs and symptoms of the patient. The cause of the condition is not known. Treatment is challenging and approach will vary depending on the age and medical history of the patient. Complications of this syndrome can become life threatening. Related conditions (conditions with overlapping signs and symptoms), include histiocytic medullary reticulosis (HMR), familial hemophagocytic lymphohistiocytosis (FHL), and X-linked lymphoproliferative syndrome.
Question: What is (are) Lymphocytic colitis ?

Answer: Lymphocytic colitis is form of microscopic colitis, a condition that is characterized by inflammation of the colon (large intestines). As the name suggests, microscopic colitis can only be diagnosed by examining a small sample of colon tissue under a microscope. In lymphocytic colitis, specifically, the tissues and lining of the colon are of normal thickness, but an increase in the number of lymphocytes (a type of white blood cell) is observed. Signs and symptoms of the condition may include chronic, watery diarrhea; abdominal pain, cramping, and bloating; weight loss; nausea; dehydration; and/or fecal incontinence. The underlying cause of lymphocytic colitis is currently unknown; however, scientists suspect that autoimmune conditions, medications, infections, genetic factors, and/or bile acid malabsorption may contribute to the development of the condition. Treatment is based on the signs and symptoms present in each person and may include certain medications, dietary modifications, and in rare cases, surgery.
Question: What is (are) Opitz G/BBB syndrome ?

Answer: Opitz G/BBB syndrome is an inherited condition that affects several structures along the midline of the body. The most common features are wide-spaced eyes and defects of the larynx, trachea, and/or esophagus causing breathing problems and difficulty swallowing. Affected males usually have a urethra opening on the underside of the penis (hypospadias). Other features can include mild intellectual disability, cleft lip and/or a cleft palate, heart defects, an obstruction of the anal opening (imperforate anus), agenesis of the corpus callosum, and facial abnormalities. These features may vary, even among members of the same family. There are two forms of Opitz G/BBB syndrome, which are distinguished by their genetic causes and patterns of inheritance. The X-linked form is caused by mutations in the MID1 gene. Autosomal dominant Opitz G/BBB syndrome is caused by a deletion of 22q11.2, and is often referred to as 22q11.2 deletion syndrome. Treatment depends on the individuals specific needs.
Question: What is (are) X-linked visceral heterotaxy 1 ?

Answer: X-linked visceral heterotaxy type 1 is a very rare form of heterotaxy that has only been reported in a few families. Heterotaxy is the right/left transposition of thoracic and/or abdominal organs. This condition is caused by mutations in the ZIC3 gene, is inherited in an X-linked recessive fashion, and is usually seen in males. Physical features include heart abnormalities such as dextrocardia, transposition of great vessels, ventricular septal defect, patent ductus arteriosus, pulmonic stenosis; situs inversus, and missing (asplenia) and/or extra spleens (polysplenia). Affected individuals can also experience abnormalities in the development of the midline of the body, which can cause holoprosencephaly , myelomeningocele, urological anomalies, widely spaced eyes (hypertelorism), cleft palate, and abnormalities of the sacral spine and anus. Heterotaxia with recurrent respiratory infections are called primary ciliary dyskinesia.
Question: What are the treatments for Amyloidosis AA ?

Answer: What are the most current treatments for this disease? In amyloidosis AA, the treatment depends on the underlying disease. It is important to control the chronic infection or inflammatory disease which is responsible for the amyloid. Both surgery and medication can be used to achieve successful treatment outcomes for patients. Medscape Reference provides current and comprehensive information on medical treatment options for amyloidosis AA based on the underlying inflammatory disease or infection. Please visit the link below. You may need to register to view the article, but registration is free. http://emedicine.medscape.com/article/335559-treatment#showall Kidney transplant is an important option in patients with amyloidosis AA in which stable control of the underlying disease has been achieved. However, appropriate patient selection is strongly recommended due to a higher incidence of heart failure and infections in AA individuals. Currently there is a clinical study on the safety and effectiveness of the medication KIACTA in preventing decline of renal function in patients with amyloidosis AA. CLICK HERE to learn more about this study including the six study locations within the United States.
Question: What is (are) Multiple myeloma ?

Answer: Multiple myeloma is a form of cancer that occurs due to abnormal and uncontrolled growth of plasma cells in the bone marrow. Some people with multiple myeloma, especially those with early stages of the condition, have no concerning signs or symptoms. When present, the most common symptom is anemia, which can be associated with fatigue and shortness of breath. Other features of the condition may include multiple infections; abnormal bleeding; bone pain; weak and/or easily broken bones; and numbness and/or weakness of the arms and legs. The exact underlying cause of multiple myeloma is currently unknown. Factors that are associated with an increased risk of developing multiple myeloma include increasing age, male sex, African American race, radiation exposure, a family history of the condition, obesity, and/or a personal history of monoclonal gammopathy of undetermined significance (MGUS). Treatment varies based on many factors, but may include one or more of the following interventions: chemotherapy, corticosteroid medications, targeted therapy, stem cell transplant, biological therapy, radiation therapy, surgery and/or watchful waiting.
Question: What is (are) Schimke immunoosseous dysplasia ?

Answer: Schimke immunoosseous dysplasia (SIOD) is a condition characterized by short stature, kidney disease, and a weakened immune system.   Growth failure is often the first sign of this condition.  Other features are usually detected in the evaluation for growth failure or in the following years.  The severity of SIOD ranges from an infantile or severe early-onset form to a juvenile or milder late-onset form.  Complications of the severe form of SIOD can include strokes, severe opportunistic infections, bone marrow failure, and kidney failure that can be life-threatening early in life. People with milder disease have survived to adulthood if their kidney disease is managed. This condition is inherited in an autosomal recessive pattern.  Mutations in the SMARCAL1 gene increase the risk to develop Schimke immunoosseous dysplasia.  However, in order for people with SMARCAL1 gene mutations to develop symptoms of Schimke immunoosseous dysplasia, other currently unknown genetic or environmental factors must also be present.
Question: What is (are) Cone-rod dystrophy ?

Answer: Cone-rod dystrophies (CRDs) are a group of inherited eye disorders that affect both the cone and rod cells of the retina (photosenstitive receptor cells). In contrast to rod-cone dystrophies, individuals experience deterioration of the cone cells more severely than the rod cells. Initial signs and symptoms typically include decreased visual acuity when looking straight ahead (central vision loss); loss of color perception; and an abnormal sensitivity to light (photophobia). These signs are usually followed by progressive loss of peripheral vision and night blindness. Most cases occur due to mutations in any one of several genes, and CRDs can be inherited as autosomal recessive, autosomal dominant, X-linked or mitochondrial (maternally-inherited) traits. CRDs are usually non-syndromic, but they may also be part of several syndromes. Currently, there is no therapy that stops progression of the disease or restores vision; management aims at slowing the process, treating complications and helping individuals cope with the social and psychological impact of blindness.
Question: What are the treatments for Restless Legs Syndrome ?

Answer: For those with mild to moderate symptoms, many physicians suggest certain lifestyle changes and activities to reduce or eliminate symptoms. Decreased use of caffeine, alcohol, and tobacco may provide some relief. Physicians may suggest that certain individuals take supplements to correct deficiencies in iron, folate, and magnesium. Taking a hot bath, massaging the legs, or using a heating pad or ice pack can help relieve symptoms in some patients.
                
Physicians also may suggest a variety of medications to treat RLS, including dopaminergics, benzodiazepines (central nervous system depressants), opioids, and anticonvulsants. The drugs ropinirole, pramipexole, gabapentin enacarbil, and rotigotine have been approved by the U.S. Food and Drug Administration for treating moderate to severe RLS. The Relaxis pad, which the person can place at the site of discomfort when in bed and provides 30 minutes of vibrations (counterstimulation) that ramp off after 30 minutes, also has been approved by the FDA.