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

Answer: Mutations in the CSTB gene cause Unverricht-Lundborg disease. The CSTB gene provides instructions for making a protein called cystatin B. This protein reduces the activity of enzymes called cathepsins. Cathepsins help break down certain proteins in the lysosomes (compartments in the cell that digest and recycle materials). While the specific function of cystatin B is unclear, it may help protect the cells' proteins from cathepsins that leak out of the lysosomes.  In almost all affected individuals, Unverricht-Lundborg disease is caused by an increase in size of the CSTB gene. One region of the CSTB gene has a particular repeating sequence of 12 DNA building blocks (nucleotides). This sequence is normally repeated two or three times within the gene and is called a dodecamer repeat. Most people with this disorder have more than 30 repeats of the dodecamer sequence in both copies of the CSTB gene. A small number of people with Unverricht-Lundborg disease carry other mutations.  The increased number of dodecamer repeats in the CSTB gene seems to interfere with the production of the cystatin B protein. Levels of cystatin B in affected individuals are only 5 to 10 percent of normal, and cathepsin levels are significantly increased. These changes are believed to cause the signs and symptoms of Unverricht-Lundborg disease, but it is unclear how a reduction in the amount of cystatin B leads to the features of this disorder.
Question: What is (are) phosphoglycerate kinase deficiency ?

Answer: Phosphoglycerate kinase deficiency is a genetic disorder that affects the body's ability to break down the simple sugar glucose, which is the primary energy source for most cells. Researchers have described two major forms of the condition. The most common form is sometimes called the hemolytic form. It is characterized by a condition known as chronic hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely. Chronic hemolytic anemia can lead to unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), fatigue, shortness of breath, and a rapid heart rate. Some people with the hemolytic form also have symptoms related to abnormal brain function, including intellectual disability, seizures, and stroke.  The other form of phosphoglycerate kinase deficiency is often called the myopathic form. It primarily affects muscles, causing progressive weakness, pain, and cramping, particularly with exercise. During exercise, muscle tissue can be broken down, releasing a protein called myoglobin. This protein is processed by the kidneys and released in the urine (myoglobinuria). If untreated, myoglobinuria can lead to kidney failure.  Most people with phosphoglycerate kinase deficiency have either the hemolytic form or the myopathic form. However, other combinations of signs and symptoms (such as muscle weakness with neurologic symptoms) have also been reported.
Question: What are the genetic changes related to ophthalmo-acromelic syndrome ?

Answer: Mutations in the SMOC1 gene cause ophthalmo-acromelic syndrome. The SMOC1 gene provides instructions for making a protein called secreted modular calcium-binding protein 1 (SMOC-1). This protein is found in basement membranes, which are thin, sheet-like structures that support cells in many tissues and help anchor cells to one another during embryonic development. The SMOC-1 protein attaches (binds) to many different proteins and is thought to regulate molecules called growth factors that stimulate the growth and development of tissues throughout the body. These growth factors play important roles in skeletal formation, normal shaping (patterning) of the limbs, as well as eye formation and development. The SMOC-1 protein also likely promotes the maturation (differentiation) of cells that build bones, called osteoblasts.  SMOC1 gene mutations often result in a nonfunctional SMOC-1 protein. The loss of SMOC-1 could disrupt growth factor signaling, which would impair the normal development of the skeleton, limbs, and eyes. These changes likely underlie the anophthalmia and skeletal malformations of ophthalmo-acromelic syndrome. It is unclear how SMOC1 gene mutations lead to the other features of this condition.  Some people with ophthalmo-acromelic syndrome do not have an identified mutation in the SMOC1 gene. The cause of the condition in these individuals is unknown.
Question: What are the genetic changes related to long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency ?

Answer: Mutations in the HADHA gene cause LCHAD deficiency. The HADHA gene provides instructions for making part of an enzyme complex called mitochondrial trifunctional protein. This enzyme complex functions in mitochondria, the energy-producing centers within cells. As the name suggests, mitochondrial trifunctional protein contains three enzymes that each perform a different function. This enzyme complex is required to break down (metabolize) a group of fats called long-chain fatty acids. Long-chain fatty acids are found in foods such as milk and certain oils. These fatty acids are stored in the body's fat tissues. Fatty acids are a major source of energy for the heart and muscles. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues.  Mutations in the HADHA gene that cause LCHAD deficiency disrupt one of the functions of this enzyme complex. These mutations prevent the normal processing of long-chain fatty acids from food and body fat. As a result, these fatty acids are not converted to energy, which can lead to some features of this disorder, such as lethargy and hypoglycemia. Long-chain fatty acids or partially metabolized fatty acids may also build up and damage the liver, heart, muscles, and retina. This abnormal buildup causes the other signs and symptoms of LCHAD deficiency.
Question: What are the genetic changes related to epidermal nevus ?

Answer: Mutations in the FGFR3 gene have been found in approximately 30 percent of people with a type of nevus in the keratinocytic epidermal nevi group. The gene mutations involved in most epidermal nevi are unknown.  Mutations associated with an epidermal nevus are present only in the cells of the nevus, not in the normal skin cells surrounding it. Because the mutation is found in some of the body's cells but not in others, people with an epidermal nevus are said to be mosaic for the mutation.  The FGFR3 gene provides instructions for the fibroblast growth factor receptor 3 (FGFR3) protein. This protein is involved in several important cellular processes, including regulation of growth and division of skin cells. The FGFR3 protein interacts with specific growth factors outside the cell to receive signals that control growth and development. When these growth factors attach to the FGFR3 protein, the protein is turned on (activated), which triggers a cascade of chemical reactions inside the cell that control growth and other cellular functions.  The most common FGFR3 gene mutation in epidermal nevi creates a protein that is turned on without attachment of a growth factor, which means that the FGFR3 protein is constantly active. Cells with a mutated FGFR3 gene grow and divide more than normal cells. In addition, these mutated cells do not undergo a form of self-destruction called apoptosis as readily as normal cells. These effects result in overgrowth of skin cells, leading to epidermal nevi.
Question: What are the symptoms of Cyclic Vomiting Syndrome ?

Answer: The main symptoms of cyclic vomiting syndrome are severe nausea and sudden vomiting lasting hours to days. A person may also experience one or more of the following symptoms:
                
- retching, or making an attempt to vomit  - heaving or gagging  - lack of appetite  - abdominal pain  - diarrhea  - fever  - dizziness  - headache  - sensitivity to light
                
Intensity of symptoms will vary as a person cycles through four distinct phases of an episode:
                
- Prodrome phase. During the prodrome phase, the person feels that an episode of nausea and vomiting is about to start. Often marked by intense sweating and nauseawith or without abdominal painthis phase can last from a few minutes to several hours. The person may appear unusually pale.  - Vomiting phase. This phase consists of intense nausea, vomiting, and retching. Periods of vomiting and retching can last 20 to 30 minutes at a time. The person may be subdued and responsive, immobile and unresponsive, or writhing and moaning with intense abdominal pain. An episode can last from hours to days.  - Recovery phase. This phase begins when the vomiting and retching stop and the nausea subsides. Improvement of symptoms during the recovery phase can vary. Healthy color, appetite, and energy return gradually or right away.  - Well phase. This phase occurs between episodes when no symptoms are present.
Question: How to diagnose Heart Failure ?

Answer: Once initial tests have been performed, your doctor may decide to send you to a cardiologist, a specialist in diagnosis and treatment of heart disease. A cardiologist will perform a physical exam and may order other tests. There are several tests that can identify the cause of heart failure. These tests include: - An echocardiogram is one of the most useful tests for diagnosing heart failure. This test uses sound waves to create a picture of the heart and shows how well the heart is filling with blood. Your doctor uses this test to determine whether any areas of your heart are damaged.  An echocardiogram is one of the most useful tests for diagnosing heart failure. This test uses sound waves to create a picture of the heart and shows how well the heart is filling with blood. Your doctor uses this test to determine whether any areas of your heart are damaged. - A Holter monitor, which is a small box that is attached to patches placed on your chest. The monitor, which is worn for 24 hours, provides a continuous recording of heart rhythm during normal activity. A Holter monitor, which is a small box that is attached to patches placed on your chest. The monitor, which is worn for 24 hours, provides a continuous recording of heart rhythm during normal activity. - An exercise stress test captures your EKG and blood pressure before, during, or after exercise to see how your heart responds to exercise. This test tells doctors how your heart responds to activity.  An exercise stress test captures your EKG and blood pressure before, during, or after exercise to see how your heart responds to exercise. This test tells doctors how your heart responds to activity.
Question: what research (or clinical trials) is being done for Hairy Cell Leukemia ?

Answer: New types of treatment are being tested in clinical trials.
                    Information about clinical trials is available from the NCI website.
                 
                
                    Patients may want to think about taking part in a clinical trial.
                    For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment.   Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment.   Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.
                 
                
                    Patients can enter clinical trials before, during, or after starting their cancer treatment.
                    Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment.   Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.
Question: What is (are) Zika Virus ?

Answer: Zika is a virus that is spread by mosquitoes. A pregnant mother can pass it to her baby during pregnancy or around the time of birth. A man can spread it to his partner during sexual contact. There have also been reports that the virus has spread through blood transfusions. There have been outbreaks of Zika virus in Africa, Southeast Asia, the Pacific Islands, parts of the Caribbean, and Central and South America.    Most people who get the virus do not get sick. One in five people do get symptoms, which can include a fever, rash, joint pain, and conjunctivitis (pinkeye). Symptoms are usually mild, and start 2 to 7 days after being bitten by an infected mosquito.    A blood test can tell whether you have the infection. There are no vaccines or medicines to treat it. Drinking lots of fluids, resting, and taking acetaminophen might help.    Zika can cause microcephaly (a serious birth defect of the brain) and other problems in babies whose mothers were infected while pregnant. The Centers for Disease Control and Prevention recommends that pregnant women do not travel to areas where there is a Zika virus outbreak. If you do decide to travel, first talk to your doctor. You should also be careful to prevent mosquito bites:       - Use insect repellent    - Wear clothes that cover your arms, legs, and feet    - Stay in places that have air conditioning or that use window and door screens       Centers for Disease Control and Prevention
Question: What is (are) Miscarriage ?

Answer: A miscarriage is the loss of pregnancy from natural causes before the 20th week of pregnancy. Most miscarriages occur very early in the pregnancy, often before a woman even knows she is pregnant. There are many different causes for a miscarriage. In most cases, there is nothing you can do to prevent a miscarriage.    Factors that may contribute to miscarriage include       - A genetic problem with the fetus. This is the most common cause in the first trimester.    - Problems with the uterus or cervix. These contribute in the second trimester.    - Polycystic ovary syndrome       Signs of a miscarriage can include vaginal spotting or bleeding, abdominal pain or cramping, and fluid or tissue passing from the vagina. Although vaginal bleeding is a common symptom of miscarriage, many women have spotting early in their pregnancy but do not miscarry. But if you are pregnant and have bleeding or spotting, contact your health care provider immediately.    Women who miscarry early in their pregnancy usually do not need any treatment. In some cases, you may need a procedure called a dilatation and curettage (D&C) to remove tissue remaining in the uterus.    Counseling may help you cope with your grief. Later, if you do decide to try again, work closely with your health care provider to lower the risks. Many women who have a miscarriage go on to have healthy babies.    NIH: National Institute of Child Health and Human Development
Question: What is (are) Multiple system atrophy ?

Answer: Multiple system atrophy (MSA) is a progressive neurodegenerative disorder characterized by symptoms of autonomic nervous system failure such as fainting spells and bladder control problems, combined with motor control symptoms such as tremor, rigidity, and loss of muscle coordination.  MSA affects both men and women primarily in their 50s.  The disease tends to advance rapidly over the course of 9 to 10 years, with progressive loss of motor skills, eventual confinement to bed, and death. The cause of multiple system atrophy is unknown, although environmental toxins, trauma, and genetic factors have been suggested. Most cases are sporadic, meaning they occur at random. A possible risk factor for the disease is variations in the synuclein gene SCNA, which provides instructions for the production of alpha-synuclein. A characteristic feature of MSA is the accumulation of the protein alpha-synuclein in glia, the cells that support nerve cells in the brain. These deposits of alpha-synuclein particularly occur in oligodendroglia, a type of cell that makes myelin (a coating on nerve cells that lets them conduct electrical signals rapidly). This protein also accumulates in Parkinsons disease, but in nerve cells. Because they both have a buildup of alpha-synuclein in cells, MSA and Parkinsons disease are sometimes referred to as synucleinopathies.  There is no cure for this condition, and there is no known way to prevent the disease from getting worse. The goal of treatment is to control symptoms.
Question: What are the symptoms of Heart-hand syndrome, Slovenian type ?

Answer: What are the signs and symptoms of Heart-hand syndrome, Slovenian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Heart-hand syndrome, Slovenian type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Myopathy 5% Aplasia of the middle phalanx of the hand - Autosomal dominant inheritance - Brachydactyly syndrome - Clinodactyly - Dilated cardiomyopathy - Syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the symptoms of Congenital alopecia X-linked ?

Answer: What are the signs and symptoms of Congenital alopecia X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital alopecia X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eye 90% Abnormality of the skin 90% Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% Hypotrichosis - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the symptoms of Autosomal dominant optic atrophy and cataract ?

Answer: What are the signs and symptoms of Autosomal dominant optic atrophy and cataract? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant optic atrophy and cataract. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of extrapyramidal motor function - Autosomal dominant inheritance - Cataract - Optic atrophy - Reduced visual acuity - Tremor - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the symptoms of Glycosylphosphatidylinositol deficiency ?

Answer: What are the signs and symptoms of Glycosylphosphatidylinositol deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Glycosylphosphatidylinositol deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Hepatomegaly - Portal hypertension - Portal vein thrombosis - Seizures - Splenomegaly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.