umarjan11/Medical-qna huggingface dataset:
Question: How to diagnose Shingles ?

Answer: A typical shingles case is easy to diagnose. A healthcare provider might suspect shingles if - the rash is only on one side of the body   - the rash erupts along one of the many nerve paths, called dermatomes, that stem from the spine. the rash is only on one side of the body the rash erupts along one of the many nerve paths, called dermatomes, that stem from the spine. A healthcare provider usually confirms a diagnosis of shingles if the person also - reports a sharp, burning pain   - has had chickenpox   - has blisters that look like chickenpox   - is elderly. reports a sharp, burning pain has had chickenpox has blisters that look like chickenpox is elderly. Other symptoms of shingles can include -  fever  -  headache  -  chills  -  upset stomach.  fever headache chills upset stomach. Some people go to their healthcare provider because of burning, painful, itchy sensations on one area of skin, but they don't get a rash. If there is no rash, the symptoms can be difficult to diagnose because they can be mistaken for numerous other diseases. In cases where there is no rash or the diagnosis is questionable, healthcare providers can do a blood test. If there is a rash, but it does not resemble the usual shingles outbreak, a healthcare provider can examine skin scrapings from the sores.
Question: What are the symptoms of Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies ?

Answer: Signs and symptoms of childhood AML, childhood CML, JMML, or MDS include fever, feeling tired, and easy bleeding or bruising. These and other signs and symptoms may be caused by childhood AML, childhood CML, JMML, or MDS or by other conditions. Check with a doctor if your child has any of the following:         -  Fever with or without an infection.    - Night sweats.    - Shortness of breath.    - Weakness or feeling tired.    - Easy bruising or bleeding.    -  Petechiae (flat, pinpoint spots under the skin caused by bleeding).    - Pain in the bones or joints.    - Pain or feeling of fullness below the ribs.    - Painless lumps in the neck, underarm, stomach, groin, or other parts of the body. In childhood AML, these lumps, called leukemia cutis, may be blue or purple.    - Painless lumps that are sometimes around the eyes. These lumps, called chloromas, are sometimes seen in childhood AML and may be blue-green.    - An eczema -like skin rash.        The signs and symptoms of TMD may include the following:         - Swelling all over the body.    - Shortness of breath.    - Trouble breathing.    - Weakness or feeling tired.    - Pain below the ribs.
Question: What is (are) Enlarged Prostate (BPH) ?

Answer: The prostate is a gland in men. It helps make semen, the fluid that contains sperm. The prostate surrounds the tube that carries urine out of the body. As men age, their prostate grows bigger. If it gets too large, it can cause problems. An enlarged prostate is also called benign prostatic hyperplasia (BPH). Most men will get BPH as they get older. Symptoms often start after age 50.    BPH is not cancer, and it does not seem to increase your chance of getting prostate cancer. But the early symptoms are the same. Check with your doctor if you have       - A frequent and urgent need to urinate, especially at night    - Trouble starting a urine stream or making more than a dribble    - A urine stream that is weak, slow, or stops and starts several times    - The feeling that you still have to go, even just after urinating    - Small amounts of blood in your urine       Severe BPH can cause serious problems over time, such as urinary tract infections, and bladder or kidney damage. If it is found early, you are less likely to develop these problems.    Tests for BPH include a digital rectal exam, blood and imaging tests, a urine flow study, and examination with a scope called a cystoscope. Treatments include watchful waiting, medicines, nonsurgical procedures, and surgery.    NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Question: What are the symptoms of Plasminogen activator inhibitor type 1 deficiency ?

Answer: What are the signs and symptoms of Plasminogen activator inhibitor type 1 deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Plasminogen activator inhibitor type 1 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 dominant inheritance - Autosomal recessive inheritance - Congenital onset - Menorrhagia - 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 lipoid adrenal hyperplasia ?

Answer: What are the signs and symptoms of Congenital lipoid adrenal hyperplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital lipoid adrenal hyperplasia. 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) Adrenogenital syndrome - Autosomal recessive inheritance - Congenital adrenal hyperplasia - Hypospadias - Renal salt wasting - 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 Myeloperoxidase deficiency ?

Answer: What are the signs and symptoms of Myeloperoxidase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Myeloperoxidase 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) Abnormality of blood and blood-forming tissues - Abnormality of metabolism/homeostasis - Abnormality of the immune system - Autosomal recessive 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 Laurence Prosser Rocker syndrome ?

Answer: What are the signs and symptoms of Laurence Prosser Rocker syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Laurence Prosser Rocker syndrome. 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) Aganglionic megacolon - Autosomal recessive inheritance - Polysyndactyly of hallux - Preaxial foot polydactyly - Ventricular septal defect - 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 is (are) Erythema nodosum, idiopathic ?

Answer: Erythema nodosum (EN) is a skin condition in which red bumps (nodules) form on the shins. Less commonly, the nodules form on other areas of the body such as the thighs and forearms. The lesions begin as firm, hot, red, painful lumps and progress to a purplish color. EN is a type of inflammatory disorder affecting the layer of fat under the skin (panniculitis). Other symptoms that may accompany the skin findings include the following: fever, a general feeling of being ill. joint aches, and swelling of the affected area. In many cases, EN is presumed to be a delayed reaction to antigens associated with various infections, drugs, and certain systemic diseases. In many cases, however, EN has no identifiable cause (idiopathic); in these cases, clinical follow-up is needed to rule out certain conditions including inflammatory bowel disease, sarcoidosis, lymphoma, and Behcet's disease. Treatment may include rest, nonsteroidal anti-inflammatory drugs (NSAIDS), steroids, hot or cold compresses, potassium iodide solution, and supportive bandages or compression stockings. Symptoms usually resolve within six weeks, but EN may become a chronic disorder lasting for months and, occasionally, for years. Approximately 30% cases of idiopathic EN may last more than 6 months.
Question: What are the symptoms of Benign hereditary chorea ?

Answer: What are the signs and symptoms of Benign hereditary chorea? The Human Phenotype Ontology provides the following list of signs and symptoms for Benign hereditary chorea. 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) Gait disturbance 90% Dysarthria 7.5% Anxiety - Autosomal dominant inheritance - Chorea - Juvenile onset - Motor delay - Phenotypic variability - 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 compelling helio ophthalmic outburst syndrome ?

Answer: What are the signs and symptoms of Autosomal dominant compelling helio ophthalmic outburst syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal dominant compelling helio ophthalmic outburst syndrome. 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 nervous system - Autosomal dominant 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 Hereditary spherocytosis ?

Answer: What are the signs and symptoms of Hereditary spherocytosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary spherocytosis. 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 dominant inheritance - Cholelithiasis - Hemolytic anemia - Hyperbilirubinemia - Jaundice - Reticulocytosis - Spherocytosis - 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.
Question: What is (are) 5q minus syndrome ?

Answer: 5q minus (5q-) syndrome is a type of bone marrow disorder called myelodysplastic syndrome (MDS). MDS comprises a group of conditions in which immature blood cells fail to develop normally, resulting in too many immature cells and too few normal mature blood cells. In 5q- syndrome, development of red blood cells is particularly affected, leading to a shortage of these cells (anemia). In addition, the red blood cells that are present are unusually large (macrocytic). Although many people with 5q- syndrome have no symptoms related to anemia, especially in the early stages of the condition, some affected individuals develop extreme tiredness (fatigue), weakness, and an abnormally pale appearance (pallor) as the condition worsens. Individuals with 5q- syndrome also have abnormal development of bone marrow cells called megakaryocytes, which produce platelets, the cell fragments involved in blood clotting. A common finding in people with 5q- syndrome is abnormal cells described as hypolobated megakaryocytes. In addition, some individuals with 5q- syndrome have an excess of platelets, while others have normal numbers of platelets.  MDS is considered a slow-growing (chronic) blood cancer. It can progress to a fast-growing blood cancer called acute myeloid leukemia (AML). Progression to AML occurs less commonly in people with 5q- syndrome than in those with other forms of MDS.
Question: What is (are) IRAK-4 deficiency ?

Answer: IRAK-4 deficiency is an inherited disorder of the immune system (primary immunodeficiency). This immunodeficiency leads to recurrent infections by a subset of bacteria known as pyogenic bacteria but not by other infectious agents. (Infection with pyogenic bacteria causes the production of pus.) The most common infections in IRAK-4 deficiency are caused by the Streptococcus pneumoniae, Staphylococcus aureus, and Pseudomonas aeruginosa bacteria. Most people with this condition have their first bacterial infection before age 2, and the infections can be life-threatening in infancy and childhood. Infections become less frequent with age.  Most people with IRAK-4 deficiency have invasive bacterial infections, which can involve the blood (septicemia), the membrane covering the brain and spinal cord (meningitis), or the joints (leading to inflammation and arthritis). Invasive infections can also cause areas of tissue breakdown and pus production (abscesses) on internal organs. In addition, affected individuals can have localized infections of the upper respiratory tract, skin, or eyes. Although fever is a common reaction to bacterial infections, many people with IRAK-4 deficiency do not at first develop a high fever in response to these infections, even if the infection is severe.
Question: What are the genetic changes related to gastrointestinal stromal tumor ?

Answer: Genetic changes in one of several genes are involved in the formation of GISTs. About 80 percent of cases are associated with a mutation in the KIT gene, and about 10 percent of cases are associated with a mutation in the PDGFRA gene. Mutations in the KIT and PDGFRA genes are associated with both familial and sporadic GISTs. A small number of affected individuals have mutations in other genes.  The KIT and PDGFRA genes provide instructions for making receptor proteins that are found in the cell membrane of certain cell types and stimulate signaling pathways inside the cell. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. When the ligand attaches (binds), the KIT or PDGFRA receptor protein is turned on (activated), which leads to activation of a series of proteins in multiple signaling pathways. These signaling pathways control many important cellular processes, such as cell growth and division (proliferation) and survival.  Mutations in the KIT and PDGFRA genes lead to proteins that no longer require ligand binding to be activated. As a result, the proteins and the signaling pathways are constantly turned on (constitutively activated), which increases the proliferation and survival of cells. When these mutations occur in ICCs or their precursors, the uncontrolled cell growth leads to GIST formation.
Question: What is (are) congenital contractural arachnodactyly ?

Answer: Congenital contractural arachnodactyly is a disorder that affects many parts of the body. People with this condition typically are tall with long limbs (dolichostenomelia) and long, slender fingers and toes (arachnodactyly). They often have permanently bent joints (contractures) that can restrict movement in their hips, knees, ankles, or elbows. Additional features of congenital contractural arachnodactyly include underdeveloped muscles, a rounded upper back that also curves to the side (kyphoscoliosis), permanently bent fingers and toes (camptodactyly), ears that look "crumpled," and a protruding chest (pectus carinatum). Rarely, people with congenital contractural arachnodactyly have heart defects such as an enlargement of the blood vessel that distributes blood from the heart to the rest of the body (aortic root dilatation) or a leak in one of the valves that control blood flow through the heart (mitral valve prolapse). The life expectancy of individuals with congenital contractural arachnodactyly varies depending on the severity of symptoms but is typically not shortened.  A rare, severe form of congenital contractural arachnodactyly involves both heart and digestive system abnormalities in addition to the skeletal features described above; individuals with this severe form of the condition usually do not live past infancy.
Question: What are the genetic changes related to frontonasal dysplasia ?

Answer: Mutations in the ALX3 gene cause frontonasal dysplasia type 1, ALX4 gene mutations cause type 2, and ALX1 gene mutations cause type 3. These genes provide instructions for making proteins that are necessary for normal development, particularly of the head and face, before birth. The proteins produced from the ALX3, ALX4, and ALX1 genes are transcription factors, which means they attach (bind) to DNA and control the activity of certain genes. Specifically, the proteins control the activity of genes that regulate cell growth and division (proliferation) and movement (migration), ensuring that cells grow and stop growing at specific times and that they are positioned correctly during development. The ALX3 and ALX4 proteins are primarily involved in the development of the nose and surrounding tissues, while the ALX1 protein is involved in development of the eyes, nose, and mouth.  ALX3, ALX4, or ALX1 gene mutations reduce or eliminate function of the respective protein. As a result, the regulation of cell organization during development of the head and face is disrupted, particularly affecting the middle of the face. Abnormal development of the nose, philtrum, and upper lip leads to the facial clefts that characterize this disorder. This abnormal development also interferes with the proper formation of the skull and other facial structures, leading to anterior cranium bifidum occultum, hypertelorism, and other features of frontonasal dysplasia.