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

Answer: Changes in the T gene have been associated with chordoma. An inherited duplication of the T gene identified in a few families is associated with an increased risk of developing a chordoma. Duplications or increases in activity (expression) of the T gene have also been identified in people with chordoma who have no history of the disorder in their family. In these individuals, the changes occur only in the tumor cells and are not inherited.  The T gene provides instructions for making a protein called brachyury. Brachyury is a member of a protein family called T-box proteins, which play critical roles during embryonic development. T-box proteins regulate the activity of other genes by attaching (binding) to specific regions of DNA. On the basis of this action, T-box proteins are called transcription factors.  The brachyury protein is especially important for the early development of the spine. In human embryos, a structure called the notochord is the precursor of the spinal column. The notochord disappears before birth, but in a small percentage of individuals, some of its cells remain in the base of the skull or in the spine. In rare cases these cells begin to grow and divide uncontrollably, invading the nearby bone and soft tissue and resulting in the development of a chordoma.  Duplications and increases in expression of the T gene both result in the production of excess brachyury protein. The specific mechanism by which excess brachyury protein contributes to the development of chordomas is unclear. Some people with chordoma do not have changes in the T gene, and the cause of the disorder in these individuals is unknown.
Question: What are the genetic changes related to 3-methylglutaconyl-CoA hydratase deficiency ?

Answer: Mutations in the AUH gene cause 3-methylglutaconyl-CoA hydratase deficiency. This gene provides instructions for producing 3-methylglutaconyl-CoA hydratase, an enzyme that is involved in breaking down a protein building block (amino acid) called leucine to provide energy for cells. This amino acid is broken down in cell structures called mitochondria, which convert energy from food into a form that cells can use.  AUH gene mutations lead to an absence of enzyme activity. Without any functional 3-methylglutaconyl-CoA hydratase, leucine is not properly broken down, which leads to a buildup of related compounds, including multiple acids: 3-methylglutaconic acid, 3-methylglutaric acid, and 3-hydroxyisovaleric acid. Researchers speculate that an accumulation of these acids in the fluid that surrounds and protects the brain and spinal cord (the cerebrospinal fluid or CSF) can damage these structures and contribute to the neurological features of 3-methylglutaconyl-CoA hydratase deficiency.  Because the age at which the condition begins varies widely and because the signs and symptoms improve in some affected children, researchers speculate that other genes or environmental factors may play a role in the features of 3-methylglutaconyl-CoA hydratase deficiency.
Question: What is (are) Clouston syndrome ?

Answer: Clouston syndrome is a form of ectodermal dysplasia, a group of about 150 conditions characterized by abnormal development of some or all of the ectodermal structures, which include the skin, hair, nails, teeth, and sweat glands. Specifically, Clouston syndrome is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected.  In infants with Clouston syndrome, scalp hair is sparse, patchy, and lighter in color than the hair of other family members; it is also fragile and easily broken. By puberty, the hair problems may worsen until all the hair on the scalp is lost (total alopecia). The eyelashes, eyebrows, underarm (axillary) hair, and pubic hair are also sparse or absent.  Abnormal growth of fingernails and toenails (nail dystrophy) is also characteristic of Clouston syndrome. The nails may appear white in the first years of life. They grow slowly and gradually become thick and misshapen. In some people with Clouston syndrome, nail dystrophy is the most noticeable feature of the disorder.  Many people with Clouston syndrome have thick skin on the palms of the hands and soles of the feet (palmoplantar hyperkeratosis); areas of the skin, especially over the joints, that are darker in color than the surrounding skin (hyperpigmentation); and widened and rounded tips of the fingers (clubbing).
Question: What is (are) Gastritis ?

Answer: Gastritis is a condition in which the stomachliningknown as the mucosais inflamed, or swollen. The stomach lining contains glands that produce stomach acid and an enzyme called pepsin. The stomach acid breaks down food and pepsin digests protein. A thick layer of mucus coats the stomach lining and helps prevent the acidic digestive juice from dissolving the stomach tissue. When the stomach lining is inflamed, it produces less acid and fewer enzymes. However, the stomach lining also produces less mucus and other substances that normally protect the stomach lining from acidic digestive juice.
                
Gastritis may be acute or chronic:
                
- Acute gastritis starts suddenly and lasts for a short time.  - Chronic gastritis is long lasting. If chronic gastritis is not treated, it may last for years or even a lifetime.
                
Gastritis can be erosive or nonerosive:
                
- Erosive gastritis can cause the stomach lining to wear away, causing erosionsshallow breaks in the stomach liningor ulcersdeep sores in the stomach lining.  - Nonerosive gastritis causes inflammation in the stomach lining; however, erosions or ulcers do not accompany nonerosive gastritis.
                
A health care provider may refer a person with gastritis to a gastroenterologista doctor who specializes in digestive diseases.
Question: What is (are) Hypopharyngeal Cancer ?

Answer: Key Points
                    - Hypopharyngeal cancer is a disease in which malignant (cancer) cells form in the tissues of the hypopharynx.    - Use of tobacco products and heavy drinking can affect the risk of developing hypopharyngeal cancer.     - Signs and symptoms of hypopharyngeal cancer include a sore throat and ear pain.     - Tests that examine the throat and neck are used to help detect (find) and diagnose hypopharyngeal cancer.    - Certain factors affect prognosis (chance of recovery) and treatment options.
                
                
                    Hypopharyngeal cancer is a disease in which malignant (cancer) cells form in the tissues of the hypopharynx.
                    The hypopharynx is the bottom part of the pharynx (throat). The pharynx is a hollow tube about 5 inches long that starts behind the nose, goes down the neck, and ends at the top of the trachea (windpipe) and esophagus (the tube that goes from the throat to the stomach). Air and food pass through the pharynx on the way to the trachea or the esophagus.      Most hypopharyngeal cancers form in squamous cells, the thin, flat cells lining the inside of the hypopharynx. The hypopharynx has 3 different areas. Cancer may be found in 1 or more of these areas.   Hypopharyngeal cancer is a type of head and neck cancer.
Question: What is (are) Diabetes and Pregnancy ?

Answer: Diabetes is a disease in which your blood glucose, or blood sugar, levels are too high. When you are pregnant, high blood sugar levels are not good for your baby.    About seven out of every 100 pregnant women in the United States get gestational diabetes. Gestational diabetes is diabetes that happens for the first time when a woman is pregnant. Most of the time, it goes away after you have your baby. But it does increase your risk for developing type 2 diabetes later on. Your child is also at risk for obesity and type 2 diabetes.    Most women get a test to check for diabetes during their second trimester of pregnancy. Women at higher risk may get a test earlier.    If you already have diabetes, the best time to control your blood sugar is before you get pregnant. High blood sugar levels can be harmful to your baby during the first weeks of pregnancy - even before you know you are pregnant. To keep you and your baby healthy, it is important to keep your blood sugar as close to normal as possible before and during pregnancy.    Either type of diabetes during pregnancy increases the chances of problems for you and your baby. To help lower the chances talk to your health care team about       - A meal plan for your pregnancy    - A safe exercise plan    - How often to test your blood sugar    - Taking your medicine as prescribed. Your medicine plan may need to change during pregnancy.       NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Question: What are the symptoms of Ulnar hypoplasia lobster claw deformity of feet ?

Answer: What are the signs and symptoms of Ulnar hypoplasia lobster claw deformity of feet? The Human Phenotype Ontology provides the following list of signs and symptoms for Ulnar hypoplasia lobster claw deformity of feet. 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) Aplasia/Hypoplasia of the radius 90% Split hand 90% Hypoplasia of the ulna - Short finger - Split foot - 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: Is Diabetes mellitus type 1 inherited ?

Answer: Is diabetes mellitus type 1 inherited? Diabetes mellitus type 1 (DM1) itself is not inherited, but a predisposition to developing the condition can run in families. While some people with a family history of DM1 may be at an increased risk, most will not have the condition. While the exact cause is not known, some genetic risk factors have been found. The risk of developing DM1 is increased by having certain versions (variants) of genes, which belong to a family of genes called the human leukocyte antigen (HLA) complex. HLA genes have many variations, and people have a certain combination of these variations, called a haplotype. Certain HLA haplotypes are associated with a higher risk of developing DM1, with particular combinations causing the highest risk. However, these variants are also found in the general population, and only about 5% of people with the gene variants develop DM1. Other genes, as well as a variety of other factors, are thought to influence the risk for DM1 also. Because there is no specific inheritance pattern associated with DM1, it is difficult to predict whether another family member will develop the condition. Generally, the risk is higher if a parent or sibling is affected. In some cases, genetic testing can be done to determine if someone who has a family history is at increased risk of developing the condition.  More information can be found on the America Diabetes Association's Web site, which has an article entitled Genetics of Diabetes. People with specific questions about genetic risks to themselves or family members should speak with their health care provider or a genetics professional.
Question: What are the symptoms of Male pseudohermaphroditism due to defective LH molecule ?

Answer: What are the signs and symptoms of Male pseudohermaphroditism due to defective LH molecule? The Human Phenotype Ontology provides the following list of signs and symptoms for Male pseudohermaphroditism due to defective LH molecule. 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 - Decreased testosterone in males - Male hypogonadism - Male infertility - Male pseudohermaphroditism - 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 Oculo-cerebral dysplasia ?

Answer: What are the signs and symptoms of Oculo-cerebral dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Oculo-cerebral dysplasia. 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) Aplasia/Hypoplasia affecting the eye 90% Dandy-Walker malformation 90% Optic atrophy 90% Abnormality of the palpebral fissures 7.5% 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 treatments for Autosomal recessive polycystic kidney disease ?

Answer: Is there a cure or treatment for autosomal recessive polycystic kidney disease? Although a cure or treatment for the underlying genetic cause of autosomal recessive polycystic kidney disease does not exist, advancements have been made in showing improvement of liver and kidney disease in mouse models of the condition by disrupting the function of certain cell receptors. Medical management is currently symptomatic and involves supportive care. Mechanical ventilation may be used to treat the underdevelopment of the lungs and breathing issues caused by the kidneys that are enlarged due to the numerous cysts. When the kidneys are severely enlarged, one or both kidneys may be removed (nephrectomy). Dialysis may be required during the first days of life if the infant is producing little urine (oliguria) or no urine (anuria). Low levels of sodium (hyponatremia) may occur and is treated with diuresis and/or sodium supplementation depending on the individual's specific levels. High blood pressure (hypertension) is treated with medication. Kidney failure requires dialysis, and kidney transplantation is another option. Poor eating and growth failure may be managed with gastrostomy tubes. Growth hormone therapy may be used to treat the growth failure and kidney insufficiency. Urinary tract infections are treated with antibiotics. Those with liver involvement may require shunt to treat the progressive high blood pressure and possibly liver transplantation.
Question: What are the symptoms of Salcedo syndrome ?

Answer: What are the signs and symptoms of Salcedo syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Salcedo 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) Glomerulopathy 90% Hematuria 90% Hypertension 90% Proteinuria 90% Renal insufficiency 90% Short stature 90% Abnormality of the skeletal system - Autosomal recessive inheritance - Nephropathy - 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: Is Anencephaly inherited ?

Answer: Is anencephaly inherited? Most cases of anencephaly are sporadic, which means they occur in people with no family history of anencephaly or other neural tube defects (NTDs). In some cases, it may be associated with a chromosome abnormality, a severe malformation syndrome, or disruption of the amniotic membrane. A small portion of cases have appeared to be familial, but it often does not have a clear inheritance pattern. In isolated populations, anencephaly has been suspected to be due to a single gene. In Iranian Jews, who have high rates of consanguinity (mating with family members), it is inherited in an autosomal recessive manner. Parents who have had a child with anencephaly are at an increased risk to have another affected child (compared with the risk in the general population). Because most cases are believed to be multifactorial (due to interaction of genetic and environmental factors), the recurrence risk is estimated to be between 2% and 5% after a single case. If anencephaly is known to be associated with an underlying disorder, the recurrence risk may depend on that of the underlying disorder. For women who have previously had a fetus or infant with anencephaly, the Centers for Disease Control and Prevention (CDC) recommends increasing the intake of folic acid to 4mg per day beginning at least one month prior to conception. People who have had a pregnancy or child with anencephaly or another NTD, and have questions about future risk, are encouraged to speak with a genetic counselor or other genetics professional.
Question: How to diagnose Primary Familial Brain Calcification ?

Answer: How is primary familial brain calcification (PFBC) diagnosed? The diagnosis of PFBC relies upon:   1) visualization of bilateral (on both sides) calcification of the basal ganglia on neuroimaging,  2) presence of progressive neurological dysfunction,  3) absence of a metabolic, infectious, toxic, or traumatic cause, and 4) a family history consistent with autosomal dominant inheritance (a person must inherit one copy of the altered gene from one parent to have the condition). Molecular genetic testing can help confirm the diagnosis. Is there genetic testing for primary familial brain calcification (PFBC) even though not all of the causitive genes are known? Genetic testing may help to confirm the diagnosis. For individuals in who a diagnosis of PFBC is being considered, other causes of brain calcification should be eliminated prior to pursuing genetic testing, particularly in simplex cases. Testing that might be done includes biochemical analysis of blood and urine, as well s analysis of cerebrospinal fluid. If no other primary cause for brain calcification is detected or if the family history is suggestive of autosomal dominant inheritance, molecular genetic testing should be considered.  Sequencing of SLC20A2 should be pursued first. If no mutation is identified, deletion/duplication analysis of SLC20A2 may be considered. If no identifiable mutation or deletion in SLC20A2 is found, sequence analysis of PDGFRB and PDGFB may be considered.
Question: what diseases are vaccine preventable

Answer: List of Vaccine-Preventable Diseases The following links will lead you to the main page that describes both the disease and the vaccine(s). Vaccines are available for all of the following vaccine-preventable diseases (unless otherwise noted): Anthrax Cervical Cancer (Human Papillomavirus) Diphtheria Hepatitis A Hepatitis B Haemophilus influenzae type b (Hib) Human Papillomavirus (HPV) Influenza (Flu) Japanese encephalitis (JE) Measles Meningococcal Mumps Pertussis Pneumococcal Polio Rabies Rotavirus Rubella Shingles (Herpes Zoster) Smallpox Tetanus Typhoid Tuberculosis (TB) Varicella (Chickenpox) Yellow Fever Related Pages For Parents: What You Need to Know List of Vaccines Used in U.S. Photos of diseases Top of Page   Images and logos on this website which are trademarked/copyrighted or used with permission of the trademark/copyright or logo holder are not in the public domain. These images and logos have been licensed for or used with permission in the materials provided on this website. The materials in the form presented on this website may be used without seeking further permission. Any other use of trademarked/copyrighted images or logos requires permission from the trademark/copyright holder...more This graphic notice means that you are leaving an HHS Web site. For more information, please see the Exit Notification and Disclaimer policy.