umarjan11/Medical-qna huggingface dataset:
Question: What is (are) familial hemophagocytic lymphohistiocytosis ?

Answer: Familial hemophagocytic lymphohistiocytosis is a disorder in which the immune system produces too many activated immune cells (lymphocytes) called T cells, natural killer cells, B cells, and macrophages (histiocytes). Excessive amounts of immune system proteins called cytokines are also produced. This overactivation of the immune system causes fever and damages the liver and spleen, resulting in enlargement of these organs.  Familial hemophagocytic lymphohistiocytosis also destroys blood-producing cells in the bone marrow, a process called hemophagocytosis. As a result, affected individuals have low numbers of red blood cells (anemia) and a reduction in the number of blood cells involved in clotting (platelets). A reduction in platelets may cause easy bruising and abnormal bleeding.  The brain may also be affected in familial hemophagocytic lymphohistiocytosis. As a result, affected individuals may experience irritability, delayed closure of the bones of the skull in infants, neck stiffness, abnormal muscle tone, impaired muscle coordination, paralysis, blindness, seizures, and coma. In addition to neurological problems, familial hemophagocytic lymphohistiocytosis can cause abnormalities of the heart, kidneys, and other organs and tissues. Affected individuals also have an increased risk of developing cancers of blood-forming cells (leukemia and lymphoma).  Signs and symptoms of familial hemophagocytic lymphohistiocytosis usually become apparent during infancy, although occasionally they appear later in life. They usually occur when the immune system launches an exaggerated response to an infection, but may also occur in the absence of infection. Without treatment, most people with familial hemophagocytic lymphohistiocytosis survive only a few months.
Question: What is (are) Am I at Risk for Type 2 Diabetes? Taking Steps to Lower Your Risk of Getting Diabetes ?

Answer: In addition to type 2, the other main types of diabetes are type 1 diabetes and gestational diabetes.
                
Type 1 Diabetes
                
Type 1 diabetes, formerly called juvenile diabetes, is usually first diagnosed in children, teenagers, and young adults. In this type of diabetes, your pancreas can no longer make insulin because your bodys immune system has attacked and destroyed the cells that make it. Treatment for type 1 diabetes includes taking insulin shots or using an insulin pump, making wise food choices, being physically active on a regular basis, controlling blood pressure and cholesterol, and, for some, taking aspirin daily.
                
Gestational Diabetes
                
Gestational diabetes is a type of diabetes that develops only during pregnancy. Hormones produced by your placenta and other pregnancy-related factors contribute to insulin resistance, which occurs in all women during late pregnancy. Insulin resistance increases the amount of insulin needed to control blood glucose levels. If your pancreas cant produce enough insulin, gestational diabetes occurs.
                
As with type 2 diabetes, excess weight is linked to gestational diabetes. Overweight or obese women are at particularly high risk for gestational diabetes because they start pregnancy with a higher need for insulin due to insulin resistance. Excessive weight gain during pregnancy may also increase risk. Gestational diabetes occurs more often in some ethnic groups and among women with a family history of diabetes.
                
Although gestational diabetes usually goes away after the baby is born, a woman who has had gestational diabetes is more likely to develop type 2 diabetes later in life. Babies born to mothers who had gestational diabetes are also more likely to develop obesity and type 2 diabetes as they grow up.
Question: How to prevent Foodborne Illnesses ?

Answer: Foodborne illnesses can be prevented by properly storing, cooking, cleaning, and handling foods.
                
- Raw and cooked perishable foodsfoods that can spoilshould be refrigerated or frozen promptly. If perishable foods stand at room temperature for more than 2 hours, they may not be safe to eat. Refrigerators should be set at 40 degrees or lower and freezers should be set at 0 degrees.  - Foods should be cooked long enough and at a high enough temperature to kill the harmful bacteria that cause illnesses. A meat thermometer should be used to ensure foods are cooked to the appropriate internal temperature:      - 145 degrees for roasts, steaks, and chops of beef, veal, pork, and lamb, followed by 3 minutes of rest time after the meat is removed from the heat source    - 160 degrees for ground beef, veal, pork, and lamb    - 165 degrees for poultry    - Cold foods should be kept cold and hot foods should be kept hot.  - Fruits and vegetables should be washed under running water just before eating, cutting, or cooking. A produce brush can be used under running water to clean fruits and vegetables with firm skin.  - Raw meat, poultry, seafood, and their juices should be kept away from other foods.  - People should wash their hands for at least 20 seconds with warm, soapy water before and after handling raw meat, poultry, fish, shellfish, produce, or eggs. People should also wash their hands after using the bathroom, changing diapers, or touching animals.  - Utensils and surfaces should be washed with hot, soapy water before and after they are used to prepare food. Diluted bleach1 teaspoon of bleach to 1 quart of hot watercan also be used to sanitize utensils and surfaces.
                
More information about preventing foodborne illnesses is available at www.foodsafety.gov.
Question: What are the symptoms of Cataract ?

Answer: Common Symptoms The most common symptoms of a cataract are - cloudy or blurry vision and poor night vision  - glare -- headlights, lamps, or sunlight may appear too bright or a halo may appear around lights  - double vision or multiple images in one eye  - frequent prescription changes in your eyeglasses or contact lenses. cloudy or blurry vision and poor night vision glare -- headlights, lamps, or sunlight may appear too bright or a halo may appear around lights double vision or multiple images in one eye frequent prescription changes in your eyeglasses or contact lenses. Tests for Cataract Cataract is detected through a comprehensive eye exam that includes a visual acuity test, dilated eye exam, and tonometry. Tests for Cataract - The visual acuity test is an eye chart test that measures how well you see at various distances.  - In the dilated eye exam, drops are placed in your eyes to widen, or dilate, the pupils. Your eye care professional uses a special magnifying lens to examine your retina and optic nerve for signs of damage and other eye problems.   - In tonometry, an instrument measures the pressure inside the eye. Numbing drops may be applied to your eye for this test. The visual acuity test is an eye chart test that measures how well you see at various distances. In the dilated eye exam, drops are placed in your eyes to widen, or dilate, the pupils. Your eye care professional uses a special magnifying lens to examine your retina and optic nerve for signs of damage and other eye problems. In tonometry, an instrument measures the pressure inside the eye. Numbing drops may be applied to your eye for this test. Dealing with Symptoms The symptoms of early cataract may be improved with new eyeglasses, brighter lighting, anti-glare sunglasses, or magnifying lenses. If these measures do not help, surgery is the only effective treatment. Surgery involves removing the cloudy lens and replacing it with an artificial lens.
Question: What are the symptoms of Infantile axonal neuropathy ?

Answer: What are the signs and symptoms of Infantile axonal neuropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Infantile axonal neuropathy. 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 90% Decreased nerve conduction velocity 90% Developmental regression 90% Facial palsy 90% Hemiplegia/hemiparesis 90% Impaired pain sensation 90% Neurological speech impairment 90% Optic atrophy 90% Abnormality of movement 50% Hypertonia 50% Incoordination 50% Microcephaly 50% Muscular hypotonia 50% Nystagmus 50% Sensorineural hearing impairment 50% Hypothyroidism 7.5% Seizures 7.5% Type I diabetes mellitus 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 symptoms of Neurogenic diabetes insipidus ?

Answer: What are the signs and symptoms of Neurogenic diabetes insipidus? The Human Phenotype Ontology provides the following list of signs and symptoms for Neurogenic diabetes insipidus. 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) Abnormal renal physiology 90% Dehydration 90% Diabetes insipidus 90% Weight loss 90% Abnormality of temperature regulation 50% Behavioral abnormality 50% Migraine 50% Reduced consciousness/confusion 50% Diarrhea 7.5% Hypernatremia 7.5% Hyponatremia 7.5% Nausea and vomiting 7.5% Seizures 7.5% Abnormality of metabolism/homeostasis - Autosomal dominant inheritance - Gliosis - Hypertelorism - Long philtrum - Osteopenia - Short nose - Wide nose - 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 Spinocerebellar ataxia autosomal recessive 5 ?

Answer: What are the signs and symptoms of Spinocerebellar ataxia autosomal recessive 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia autosomal recessive 5. 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 skin - Ankle clonus - Autosomal recessive inheritance - Babinski sign - Bowel incontinence - Cerebellar atrophy - Clonus - Congenital onset - Decreased body weight - Dilated fourth ventricle - Dystonia - Esotropia - Flexion contracture - Intellectual disability, progressive - Intellectual disability, severe - Microcephaly - Neurological speech impairment - Nonprogressive - Oculomotor apraxia - Optic atrophy - Short stature - Spasticity - Urinary incontinence - 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) Alpers' Disease ?

Answer: Alpers' disease is a progressive, neurodevelopmental, mitochondrial DNA depletion syndrome characterized by three co-occurring clinical symptoms: psychomotor regression (dementia); seizures; and liver disease. It is an autosomal recessive disease caused by mutation in the gene for the mitochondrial DNA polymerase POLG. The disease occurs in about one in 100,000 persons. Most individuals with Alpers' disease do not show symptoms at birth and develop normally for weeks to years before the onset of symptoms. Diagnosis is established by testing for the POLG gene. Symptoms typically occur months before tissue samples show the mitochondrial DNA depletion, so that these depletion studies cannot be used for early diagnosis. About 80 percent of individuals with Alpers' disease develop symptoms in the first two years of life, and 20 percent develop symptoms between ages 2 and 25. The first symptoms of the disorder are usually nonspecific and may include hypoglycemia secondary to underlying liver disease, failure to thrive, infection-associated encephalopathy, spasticity, myoclonus (involuntary jerking of a muscle or group of muscles), seizures, or liver failure. An increased protein level is seen in cerebrospinal fluid analysis. Cortical blindness (loss of vision due to damage to the area of the cortex that controls vision) develops in about 25 percent of cases. Gastrointestinal dysfunction and cardiomyopathy may occur. Dementia is typically episodic and often associated with an infection that occurs while another disease is in process. Seizures may be difficult to control and unrelenting seizures can cause developmental regression as well. "Alpers-like" disorders without liver disease are genetically different and have a different clinical course. Fewer than one-third of individuals with the "Alpers-like" phenotype without liver disease have POLG mutations.
Question: What are the genetic changes related to congenital diaphragmatic hernia ?

Answer: Congenital diaphragmatic hernia has many different causes. In 10 to 15 percent of affected individuals, the condition appears as a feature of a disorder that affects many body systems, called a syndrome. Donnai-Barrow syndrome, Fryns syndrome, and Pallister-Killian mosaic syndrome are among several syndromes in which congenital diaphragmatic hernia may occur. Some of these syndromes are caused by changes in single genes, and others are caused by chromosomal abnormalities that affect several genes.  About 25 percent of individuals with congenital diaphragmatic hernia that is not associated with a known syndrome also have abnormalities of one or more major body systems. Affected body systems can include the heart, brain, skeleton, intestines, genitals, kidneys, or eyes. In these individuals, the multiple abnormalities likely result from a common underlying disruption in development that affects more than one area of the body, but the specific mechanism responsible for this disruption is not clear.  Approximately 50 to 60 percent of congenital diaphragmatic hernia cases are isolated, which means that affected individuals have no other major malformations.  More than 80 percent of individuals with congenital diaphragmatic hernia have no known genetic syndrome or chromosomal abnormality. In these cases, the cause of the condition is unknown. Researchers are studying changes in several genes involved in the development of the diaphragm as possible causes of congenital diaphragmatic hernia. Some of these genes are transcription factors, which provide instructions for making proteins that help control the activity of particular genes (gene expression). Others provide instructions for making proteins involved in cell structure or the movement (migration) of cells in the embryo. Environmental factors that influence development before birth may also increase the risk of congenital diaphragmatic hernia, but these environmental factors have not been identified.
Question: What are the genetic changes related to vitiligo ?

Answer: Variations in over 30 genes, occurring in different combinations, have been associated with an increased risk of developing vitiligo. Two of these genes are NLRP1 and PTPN22. The NLRP1 gene provides instructions for making a protein that is involved in the immune system, helping to regulate the process of inflammation. Inflammation occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and facilitate tissue repair. The body then stops (inhibits) the inflammatory response to prevent damage to its own cells and tissues.  The PTPN22 gene provides instructions for making a protein involved in signaling that helps control the activity of immune system cells called T cells. T cells identify foreign substances and defend the body against infection.  The variations in the NLRP1 and PTPN22 genes that are associated with an increased risk of developing vitiligo likely affect the activity of the NLRP1 and PTPN22 proteins, making it more difficult for the body to control inflammation and prevent the immune system from attacking its own tissues.  Studies indicate that variations in a number of other genes also affect the risk of vitiligo. Many of these genes are also involved in immune system function or melanocyte biology, and variations in each likely make only a small contribution to vitiligo risk. Some of the gene changes associated with an increased risk of vitiligo have also been associated with an increased risk of other autoimmune conditions.  It is unclear what specific circumstances trigger the immune system to attack melanocytes in the skin. Research suggests that the immune system of affected individuals may react abnormally to melanocytes that are stressed by factors such as chemicals or ultraviolet radiation. In addition, the melanocytes of people with vitiligo may be more susceptible to stress than those of the general population and therefore may be more likely to be attacked by the immune system. The condition probably results from a combination of genetic and environmental factors, most of which have not been identified.
Question: What are the genetic changes related to androgenetic alopecia ?

Answer: A variety of genetic and environmental factors likely play a role in causing androgenetic alopecia. Although researchers are studying risk factors that may contribute to this condition, most of these factors remain unknown. Researchers have determined that this form of hair loss is related to hormones called androgens, particularly an androgen called dihydrotestosterone. Androgens are important for normal male sexual development before birth and during puberty. Androgens also have other important functions in both males and females, such as regulating hair growth and sex drive.  Hair growth begins under the skin in structures called follicles. Each strand of hair normally grows for 2 to 6 years, goes into a resting phase for several months, and then falls out. The cycle starts over when the follicle begins growing a new hair. Increased levels of androgens in hair follicles can lead to a shorter cycle of hair growth and the growth of shorter and thinner strands of hair. Additionally, there is a delay in the growth of new hair to replace strands that are shed.  Although researchers suspect that several genes play a role in androgenetic alopecia, variations in only one gene, AR, have been confirmed in scientific studies. The AR gene provides instructions for making a protein called an androgen receptor. Androgen receptors allow the body to respond appropriately to dihydrotestosterone and other androgens. Studies suggest that variations in the AR gene lead to increased activity of androgen receptors in hair follicles. It remains unclear, however, how these genetic changes increase the risk of hair loss in men and women with androgenetic alopecia.  Researchers continue to investigate the connection between androgenetic alopecia and other medical conditions, such as coronary heart disease and prostate cancer in men and polycystic ovary syndrome in women. They believe that some of these disorders may be associated with elevated androgen levels, which may help explain why they tend to occur with androgen-related hair loss. Other hormonal, environmental, and genetic factors that have not been identified also may be involved.
Question: What is (are) galactosemia ?

Answer: Galactosemia is a disorder that affects how the body processes a simple sugar called galactose. A small amount of galactose is present in many foods. It is primarily part of a larger sugar called lactose, which is found in all dairy products and many baby formulas. The signs and symptoms of galactosemia result from an inability to use galactose to produce energy.  Researchers have identified several types of galactosemia. These conditions are each caused by mutations in a particular gene and affect different enzymes involved in breaking down galactose.  Classic galactosemia, also known as type I, is the most common and most severe form of the condition. If infants with classic galactosemia are not treated promptly with a low-galactose diet, life-threatening complications appear within a few days after birth. Affected infants typically develop feeding difficulties, a lack of energy (lethargy), a failure to gain weight and grow as expected (failure to thrive), yellowing of the skin and whites of the eyes (jaundice), liver damage, and abnormal bleeding. Other serious complications of this condition can include overwhelming bacterial infections (sepsis) and shock. Affected children are also at increased risk of delayed development, clouding of the lens of the eye (cataract), speech difficulties, and intellectual disability. Females with classic galactosemia may develop reproductive problems caused by an early loss of function of the ovaries (premature ovarian insufficiency).  Galactosemia type II (also called galactokinase deficiency) and type III (also called galactose epimerase deficiency) cause different patterns of signs and symptoms. Galactosemia type II causes fewer medical problems than the classic type. Affected infants develop cataracts but otherwise experience few long-term complications. The signs and symptoms of galactosemia type III vary from mild to severe and can include cataracts, delayed growth and development, intellectual disability, liver disease, and kidney problems.