umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation ?

Answer: What are the signs and symptoms of Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation ? The Human Phenotype Ontology provides the following list of signs and symptoms for Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation . 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) Cognitive impairment 5% Dysarthria 5% Ataxia - Autosomal recessive inheritance - Babinski sign - Hyperreflexia - Hyporeflexia - Leukoencephalopathy - Motor delay - Muscle weakness - Nystagmus - Peripheral axonal neuropathy - Skeletal muscle atrophy - Slow progression - Spasticity - Tremor - Variable expressivity - 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 Gastrocutaneous syndrome ?

Answer: What are the signs and symptoms of Gastrocutaneous syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Gastrocutaneous 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 gastric mucosa 90% Cafe-au-lait spot 90% Hypertelorism 90% Melanocytic nevus 90% Myopia 90% Abnormality of the pulmonary artery 50% Depressed nasal bridge 50% Type II diabetes mellitus 50% Coronary artery disease 7.5% Strabismus 7.5% Synophrys 7.5% Upslanted palpebral fissure 7.5% Autosomal dominant inheritance - Hiatus hernia - Multiple lentigines - Peptic ulcer - 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: Who is at risk for Parasites - Trichinellosis (also known as Trichinosis)? ?

Answer: People acquire trichinellosis by consuming raw or undercooked meat infected with the Trichinella parasite, particularly wild game meat or pork. Even tasting very small amounts of undercooked meat during preparation or cooking puts you at risk for infection. Outbreaks occur in settings where multiple people consume the same Trichinella-infected meat.
Worldwide, an estimated 10,000 cases of trichinellosis occur every year. Several different species of Trichinella can cause human disease; the most common species is Trichinella spiralis, which has a global distribution and is the species most commonly found in pigs. Other Trichinella species are less commonly reported as the cause of human disease and may be found in different parts of the world, usually infecting wild animals.
In the United States, trichinellosis cases are reported to CDC much less commonly now than in the past (Figure 1). During the late 1940s, when the U.S. Public Health Service began counting cases of trichinellosis, 400 cases in the United States were recorded each year on average. During 2008-2010, 20 cases were reported to CDC each year on average. The overall number of cases reported has decreased because of improved pig-raising practices in the pork industry, commercial and home freezing of pork, and public awareness of the danger of eating raw or undercooked meat products. The number of cases associated with raw or undercooked wild game meats has remained relatively constant over time (Figure 2). Over the past 40 years, few cases of trichinellosis have been reported in the United States, and the risk of trichinellosis from commercially raised and properly prepared pork is very low. However, eating undercooked wild game, particularly bear meat, puts one at risk for acquiring this disease.
Question: Who is at risk for Pulmonary Embolism? ?

Answer: Pulmonary embolism (PE) occurs equally in men and women. The risk increases with age. For every 10 years after age 60, the risk of having PE doubles.
                
Certain inherited conditions, such as factor V Leiden, increase the risk of blood clotting and PE.
                
Major Risk Factors
                
Your risk for PE is high if you have deep vein thrombosis (DVT) or a history of DVT. In DVT, blood clots form in the deep veins of the bodymost often in the legs. These clots can break free, travel through the bloodstream to the lungs, and block an artery.
                
Your risk for PE also is high if you've had the condition before.
                
Other Risk Factors
                
Other factors also can increase the risk for PE, such as:
                
Being bedridden or unable to move around much
                
Having surgery or breaking a bone (the risk goes up in the weeks following the surgery or injury)
                
Having certain diseases or conditions, such as a stroke, paralysis (an inability to move), chronic heart disease, or high blood pressure
                
Smoking
                
People who have recently been treated for cancer or who have a central venous catheter are more likely to develop DVT, which increases their risk for PE. A central venous catheter is a tube placed in a vein to allow easy access to the bloodstream for medical treatment.
                
Other risk factors for DVT include sitting for long periods (such as during long car or airplane rides), pregnancy and the 6-week period after pregnancy, and being overweight or obese. Women who take hormone therapy pills or birth control pills also are at increased risk for DVT.
                
The risk of developing blood clots increases as your number of risk factors increases.
Question: What are the symptoms of Hemochromatosis ?

Answer: Hemochromatosis can affect many parts of the body and cause various signs and symptoms. Many of the signs and symptoms are similar to those of other diseases.
                
Signs and symptoms of hemochromatosis usually don't occur until middle age. Women are more likely to have general symptoms first, such as fatigue (tiredness). In men, complications such as diabetes or cirrhosis (scarring of the liver) often are the first signs of the disease.
                
Signs and symptoms also vary based on the severity of the disease. Common signs and symptoms of hemochromatosis include joint pain, fatigue, general weakness, weight loss, and stomach pain.
                
Not everyone who has hemochromatosis has signs or symptoms of the disease. Estimates of how many people develop signs and symptoms vary greatly. Some estimates suggest that as many as half of all people who have the disease don't have signs or symptoms.
                
Hemochromatosis Complications
                
If hemochromatosis isn't found and treated early, iron builds up in your body and can lead to:
                
Liver disease, including an enlarged liver, liver failure, liver cancer, or cirrhosis (scarring of the liver)
                
Heart problems, including arrhythmias (irregular heartbeats) and heart failure
                
Diabetes, especially in people who have a family history of diabetes
                
Joint damage and pain, including arthritis
                
Reproductive organ failure, such as erectile dysfunction (impotence), shrinkage of the testicles, and loss of sex drive in men, and absence of the menstrual cycle and early menopause in women
                
Changes in skin color that make the skin look gray or bronze
                
Underactive pituitary and thyroid glands
                
Damage to the adrenal glands
Question: What causes Hemolytic Anemia ?

Answer: The immediate cause of hemolytic anemia is the early destruction of red blood cells. This means that red blood cells are destroyed and removed from the bloodstream before their normal lifespan is over.
                
Many diseases, conditions, and factors can cause the body to destroy its red blood cells. These causes can be inherited or acquired. "Inherited" means your parents passed the gene for the condition on to you. "Acquired" means you aren't born with the condition, but you develop it.
                
Sometimes, the cause of hemolytic anemia isn't known.
                
For more information about the specific causes of hemolytic anemia, go to "Types of Hemolytic Anemia."
                
Inherited Hemolytic Anemias
                
In inherited hemolytic anemias, the genes that control how red blood cells are made are faulty. You can get a faulty red blood cell gene from one or both of your parents.
                
Different types of faulty genes cause different types of inherited hemolytic anemia. However, in each type, the body makes abnormal red blood cells. The problem with the red blood cells may involve the hemoglobin, cell membrane, or enzymes that maintain healthy red blood cells.
                
The abnormal cells may be fragile and break down while moving through the bloodstream. If this happens, an organ called the spleen may remove the cell debris from the bloodstream.
                
Acquired Hemolytic Anemias
                
In acquired hemolytic anemias, the body makes normal red blood cells. However, a disease, condition, or other factor destroys the cells. Examples of conditions that can destroy the red blood cells include:
                
Immune disorders
                
Infections
                
Reactions to medicines or blood transfusions
                
Hypersplenism (HI-per-SPLEEN-izm; an enlarged spleen)
Question: What are the genetic changes related to multiple endocrine neoplasia ?

Answer: Mutations in the MEN1, RET, and CDKN1B genes can cause multiple endocrine neoplasia.  Mutations in the MEN1 gene cause multiple endocrine neoplasia type 1. This gene provides instructions for producing a protein called menin. Menin acts as a tumor suppressor, which means it normally keeps cells from growing and dividing too rapidly or in an uncontrolled way. Although the exact function of menin is unknown, it is likely involved in cell functions such as copying and repairing DNA and regulating the activity of other genes. When mutations inactivate both copies of the MEN1 gene, menin is no longer available to control cell growth and division. The loss of functional menin allows cells to divide too frequently, leading to the formation of tumors characteristic of multiple endocrine neoplasia type 1. It is unclear why these tumors preferentially affect endocrine tissues.  Mutations in the RET gene cause multiple endocrine neoplasia type 2. This gene provides instructions for producing a protein that is involved in signaling within cells. The RET protein triggers chemical reactions that instruct cells to respond to their environment, for example by dividing or maturing. Mutations in the RET gene overactivate the protein's signaling function, which can trigger cell growth and division in the absence of signals from outside the cell. This unchecked cell division can lead to the formation of tumors in endocrine glands and other tissues.  Mutations in the CDKN1B gene cause multiple endocrine neoplasia type 4. This gene provides instructions for making a protein called p27. Like the menin protein, p27 is a tumor suppressor that helps control the growth and division of cells. Mutations in the CDKN1B gene reduce the amount of functional p27, which allows cells to grow and divide unchecked. This unregulated cell division can lead to the development of tumors in endocrine glands and other tissues.
Question: Is Swyer syndrome inherited ?

Answer: Most cases of Swyer syndrome are not inherited; they occur in people with no history of the condition in their family. These cases result either from nongenetic causes or from new (de novo) mutations in a gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development.  SRY-related Swyer syndrome is usually caused by a new mutation. However, some individuals with Swyer syndrome inherit an altered SRY gene from an unaffected father who is mosaic for the mutation. Mosaic means that an individual has the mutation in some cells (including some reproductive cells) but not in others. In rare cases, a father may carry the mutation in every cell of the body but also has other genetic variations that prevent him from being affected by the condition. Because the SRY gene is on the Y chromosome, Swyer syndrome caused by SRY gene mutations is described as having a Y-linked inheritance pattern.  When Swyer syndrome is associated with an MAP3K1 or NR5A1 gene mutation, the condition is also usually caused by a new mutation. In the rare inherited cases, the mutation may be inherited from either parent, since these genes are not on the Y chromosome. In these cases, the condition has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the condition.  Swyer syndrome caused by mutations in the DHH gene is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition are carriers of one copy of the altered gene. Female carriers of a DHH gene mutation generally have typical sex development. Male carriers of a DHH gene mutation may also be unaffected, or they may have genital differences such as the urethra opening on the underside of the penis (hypospadias).
Question: What are the genetic changes related to Nijmegen breakage syndrome ?

Answer: Mutations in the NBN gene cause Nijmegen breakage syndrome. The NBN gene provides instructions for making a protein called nibrin. This protein is involved in several critical cellular functions, including the repair of damaged DNA. Nibrin interacts with two other proteins as part of a larger protein complex. This protein complex works to mend broken strands of DNA. DNA can be damaged by agents such as toxic chemicals or radiation. Breaks in DNA strands also occur naturally when chromosomes exchange genetic material in preparation for cell division. Repairing DNA prevents cells from accumulating genetic damage that can cause them to die or to divide uncontrollably. The nibrin protein and the proteins with which it interacts help maintain the stability of a cell's genetic information through its roles in repairing damaged DNA and regulating cell division.  The NBN gene mutations that cause this condition typically lead to the production of an abnormally short version of the nibrin protein. The defective protein is missing important regions, preventing it from responding to DNA damage effectively. As a result, affected individuals are sensitive to the effects of radiation exposure and other agents that can cause breaks in DNA. Nijmegen breakage syndrome gets its name from numerous breaks in DNA that occur in affected people's cells. A buildup of mistakes in DNA can trigger cells to grow and divide abnormally, increasing the risk of cancer in people with Nijmegen breakage syndrome. Nibrin's role in regulating cell division and cell growth (proliferation) is thought to lead to the immunodeficiency seen in affected individuals. A lack of functional nibrin results in less immune cell proliferation. A decrease in the amount of immune cells that are produced leads to reduced amounts of immunoglobulins and other features of immunodeficiency. It is unclear how mutations in the NBN gene cause the other features of Nijmegen breakage syndrome.
Question: What is (are) High Blood Cholesterol ?

Answer: TLC stands for Therapeutic Lifestyle Changes. It is a set of lifestyle changes that can help you lower your LDL cholesterol. TLC has three main parts: a cholesterol-lowering diet, weight management, and physical activity. The TLC Diet recommends - reducing the amount of saturated fat, trans fat, and cholesterol you eat.  - eating only enough calories to achieve or maintain a healthy weight.  - increasing the soluble fiber in your diet by eating foods such as oatmeal, kidney beans, and apples.  - adding cholesterol-lowering foods, such as juices or margarines that contain plant sterols or stanols that lower cholesterol. reducing the amount of saturated fat, trans fat, and cholesterol you eat. eating only enough calories to achieve or maintain a healthy weight. increasing the soluble fiber in your diet by eating foods such as oatmeal, kidney beans, and apples. adding cholesterol-lowering foods, such as juices or margarines that contain plant sterols or stanols that lower cholesterol. Weight management is an important part of TLC. Losing weight if you are overweight can help lower LDL cholesterol. Weight management is especially important for people who have a group of risk factors that includes high triglyceride and/or low HDL levels, being overweight, and having too large a waist. Too large a waist is defined as a waist measurement of 40 inches or more for men and 35 inches or more for women. Physical activity is another important part of TLC. Regular physical activity is recommended for everyone. It can help raise HDL levels and lower LDL levels. It is especially important for people with high triglyceride and/or low HDL levels who are overweight and/or have a large waist measurement.
Question: What are the symptoms of D-glycericacidemia ?

Answer: What are the signs and symptoms of D-glycericacidemia? The Human Phenotype Ontology provides the following list of signs and symptoms for D-glycericacidemia. 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) Sensorineural hearing impairment 5% Aminoaciduria - Autosomal recessive inheritance - Cerebral cortical atrophy - Delayed myelination - Encephalopathy - Failure to thrive - Growth delay - Hyperreflexia - Hypsarrhythmia - Intellectual disability - Metabolic acidosis - Microcephaly - Muscular hypotonia of the trunk - Myoclonus - Neonatal hypotonia - Nonketotic hyperglycinemia - Opisthotonus - Phenotypic variability - Seizures - Spastic tetraplegia - 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 recessive Charcot-Marie-Tooth disease with hoarseness ?

Answer: What are the signs and symptoms of Autosomal recessive Charcot-Marie-Tooth disease with hoarseness? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive Charcot-Marie-Tooth disease with hoarseness. 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) Onion bulb formation 7.5% Areflexia - Autosomal recessive inheritance - Axonal degeneration/regeneration - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Flexion contracture - Neonatal onset - Pes cavus - Spinal deformities - Split hand - Vocal cord paresis - 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.