umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Maturity-onset diabetes of the young, type 8 ?

Answer: What are the signs and symptoms of Maturity-onset diabetes of the young, type 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Maturity-onset diabetes of the young, type 8. 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) Abdominal pain - Abnormality of exocrine pancreas physiology - Autosomal dominant inheritance - Maturity-onset diabetes of the young - 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 Banki syndrome ?

Answer: What are the signs and symptoms of Banki syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Banki 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 metacarpal bones 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Synostosis of carpal bones 90% Autosomal dominant inheritance - Clinodactyly - Radial deviation of finger - 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 causes Camurati-Engelmann disease ?

Answer: What causes Camurati-Engelmann disease? Mutations in the TGFB1 gene cause Camurati-Engelmann disease. The TGFB1 gene provides instructions for producing a protein called transforming growth factor beta-1 (TGF-1). The TGF-1 protein helps control the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement (motility), and the self-destruction of cells (apoptosis). The TGF-1 protein is found throughout the body and plays a role in development before birth, the formation of blood vessels, the regulation of muscle tissue and body fat development, wound healing, and immune system function. TGF-1 is particularly abundant in tissues that make up the skeleton, where it helps regulate bone growth, and in the intricate lattice that forms in the spaces between cells (the extracellular matrix). Within cells, the TGF-1 protein is turned off (inactive) until it receives a chemical signal to become active. The TGFB1 gene mutations that cause Camurati-Engelmann disease result in the production of a TGF-1 protein that is always turned on (active). Overactive TGF-1 proteins lead to increased bone density and decreased body fat and muscle tissue, contributing to the signs and symptoms of Camurati-Engelmann disease. Some individuals with Camurati-Engelmnan disease do not have identified mutations in the TGFB1 gene. In these cases, the cause of the condition is unknown.
Question: How to prevent Pernicious Anemia ?

Answer: You can't prevent pernicious anemia caused by a lack of intrinsic factor. Without intrinsic factor, you won't be able to absorb vitamin B12 and will develop pernicious anemia.
                
Although uncommon, some people develop pernicious anemia because they don't get enough vitamin B12 in their diets. You can take steps to prevent pernicious anemia caused by dietary factors.
                
Eating foods high in vitamin B12 can help prevent low vitamin B12 levels. Good food sources of vitamin B12 include:
                
Breakfast cereals with added vitamin B12
                
Meats such as beef, liver, poultry, and fish
                
Eggs and dairy products (such as milk, yogurt, and cheese)
                
Foods fortified with vitamin B12, such as soy-based beverages and vegetarian burgers
                
If youre a strict vegetarian, talk with your doctor about having your vitamin B12 level checked regularly.
                
Vitamin B12 also is found in multivitamins and B-complex vitamin supplements. Doctors may recommend supplements for people at risk for vitamin B12 deficiency, such as strict vegetarians or people who have had stomach surgery.
                
Older adults may have trouble absorbing vitamin B12. Thus, doctors may recommend that older adults eat foods fortified with vitamin B12 or take vitamin B12 supplements.
Question: What is (are) Holes in the Heart ?

Answer: Holes in the heart are simple congenital (kon-JEN-ih-tal) heart defects. Congenital heart defects are problems with the heart's structure that are present at birth. These defects change the normal flow of blood through the heart.
                
The heart has two sides, separated by an inner wall called the septum. With each heartbeat, the right side of the heart receives oxygen-poor blood from the body and pumps it to the lungs. The left side of the heart receives oxygen-rich blood from the lungs and pumps it to the body.
                
The septum prevents mixing of blood between the two sides of the heart. However, some babies are born with holes in the upper or lower septum.
                
A hole in the septum between the heart's two upper chambers is called an atrial septal defect (ASD). A hole in the septum between the heart's two lower chambers is called a ventricular septal defect (VSD).
                
ASDs and VSDs allow blood to pass from the left side of the heart to the right side. Thus, oxygen-rich blood mixes with oxygen-poor blood. As a result, some oxygen-rich blood is pumped to the lungs instead of the body.
                
Over the past few decades, the diagnosis and treatment of ASDs and VSDs have greatly improved. Children who have simple congenital heart defects can survive to adulthood. They can live normal, active lives because their heart defects close on their own or have been repaired.
Question: What is (are) Kennedy's Disease ?

Answer: Kennedy's disease is an inherited motor neuron disease that affects males. It is one of a group of disorders called lower motor neuron disorders (which involve disruptions in the transmission of nerve cell signals in the brain to nerve cells in the brain stem and spinal cord). Onset of the disease is usually between the ages of 20 and 40, although it has been diagnosed in men from their teens to their 70s. Early symptoms include tremor of the outstretched hands, muscle cramps with exertion, and fasciculations (fleeting muscle twitches visible under the skin). Eventually, individuals develop limb weakness which usually begins in the pelvic or shoulder regions. Weakness of the facial and tongue muscles may occur later in the course of the disease and often leads to dysphagia (difficulty in swallowing), dysarthria (slurring of speech), and recurrent aspiration pneumonia. Some individuals develop gynecomastia (excessive enlargement of male breasts) and low sperm count or infertility. Still others develop non-insulin-dependent diabetes mellitus.
                
Kennedy's disease is an x-linked recessive disease, which means the patient's mother carries the defective gene on one of her X chromosomes. Daughters of patients with Kennedy's disease are also carriers and have a 1 in 2 chance of having a son affected with the disease. Parents with concerns about their children may wish to talk to a genetic counselor.
Question: What are the treatments for Atrial Fibrillation and Stroke ?

Answer: Within a few hours after onset of a stroke, treatment with drugs or devices that dissolve or break up the clot can restore blood flow to the brain and lead to a better recovery. To prevent strokes related to AF, doctors often prescribe medications to prevent formation of clots in the heart, which can travel to the brain and cause stroke. Immediately after a stroke, doctors may temporarily administer heparin by injection, while starting an oral medication for long-term protection from clots. The most commonly used drug has been warfarin. People taking warfarin must be closely monitored to make sure their blood is thin enough to prevent clots, but not so thin as to promote bleeding. Since some foods, vitamin supplements, and medications can affect warfarin action, keeping the blood just thin enough can be tricky. More recently, a number of new blood thinners, including dabigatran, rivaroxaban, and apixaban, have been shown to be as effective as warfarin in stroke prevention. These newer medications do not require regular blood test monitoring and may have less tendency to cause bleeding due to making the blood too thin. Some individuals with AF may have a lower risk of stroke and may be treated with aspirin, either alone or with another antiplatelet agency like clopidogrel. Other treatments for AF include medications such as beta blockers or calcium channel blockers to slow the heartbeat, and anti-arrhythmic drugs or electrical cardioversion (which delivers an electrical shock to the heart) to normalize the heartbeat.
Question: What are the treatments for age-related macular degeneration ?

Answer: These resources address the diagnosis or management of age-related macular degeneration:  - BrightFocus Foundation: Macular Degeneration Treatment  - Genetic Testing Registry: Age-related macular degeneration  - Genetic Testing Registry: Age-related macular degeneration 1  - Genetic Testing Registry: Age-related macular degeneration 10  - Genetic Testing Registry: Age-related macular degeneration 11  - Genetic Testing Registry: Age-related macular degeneration 2  - Genetic Testing Registry: Age-related macular degeneration 3  - Genetic Testing Registry: Age-related macular degeneration 4  - Genetic Testing Registry: Age-related macular degeneration 7  - Genetic Testing Registry: Age-related macular degeneration 9  - Genetic Testing Registry: Susceptibility to age-related macular degeneration, wet type  - Genetic Testing Registry: Susceptibility to neovascular type of age-related macular degeneration  - Macular Degeneration Partnership: Low Vision Rehabilitation  - Prevent Blindness America: Age-Related Macular Degeneration (AMD) Test - Amsler Grid   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
Question: What are the genetic changes related to cartilage-hair hypoplasia ?

Answer: Cartilage-hair hypoplasia is caused by mutations in the RMRP gene. Unlike many genes, the RMRP gene does not contain instructions for making a protein. Instead, a molecule called a noncoding RNA, a chemical cousin of DNA, is produced from the RMRP gene. This RNA attaches (binds) to several proteins, forming an enzyme complex called mitochondrial RNA-processing endoribonuclease, or RNase MRP.  The RNase MRP enzyme is thought to be involved in several important processes in the cell. For example, it likely helps copy (replicate) the DNA found in the energy-producing centers of cells (mitochondria). The RNase MRP enzyme probably also processes ribosomal RNA, which is required for assembling protein building blocks (amino acids) into functioning proteins. In addition, this enzyme helps control the cell cycle, which is the cell's way of replicating itself in an organized, step-by-step fashion.  Mutations in the RMRP gene likely result in the production of a noncoding RNA that is unstable. This unstable molecule cannot bind to some of the proteins needed to make the RNase MRP enzyme complex. These changes are believed to affect the activity of the enzyme, which interferes with its important functions within cells. Disruption of the RNase MRP enzyme complex causes the signs and symptoms of cartilage-hair hypoplasia.
Question: What are the genetic changes related to Amish lethal microcephaly ?

Answer: Mutations in the SLC25A19 gene cause Amish lethal microcephaly.  The SLC25A19 gene provides instructions for producing a protein that is a member of the solute carrier (SLC) family of proteins. Proteins in the SLC family transport various compounds across the membranes surrounding the cell and its component parts. The protein produced from the SLC25A19 gene transports a molecule called thiamine pyrophosphate into the mitochondria, the energy-producing centers of cells. This compound is involved in the activity of a group of mitochondrial enzymes called the dehydrogenase complexes, one of which is the alpha-ketoglutarate dehydrogenase complex. The transport of thiamine pyrophosphate into the mitochondria is believed to be important in brain development.  All known individuals with Amish lethal microcephaly have a mutation in which the protein building block (amino acid) alanine is substituted for the amino acid glycine at position 177 of the SLC25A19 protein, written as Gly177Ala or G177A. Researchers believe that this mutation interferes with the transport of thiamine pyrophosphate into the mitochondria and the activity of the alpha-ketoglutarate dehydrogenase complex, resulting in the abnormal brain development and alpha-ketoglutaric aciduria seen in Amish lethal microcephaly.
Question: Is Kleefstra syndrome inherited ?

Answer: The inheritance of Kleefstra syndrome is considered to be autosomal dominant because a deletion in one copy of chromosome 9 in each cell or a mutation in one copy of the EHMT1 gene is sufficient to cause the condition. Most cases of Kleefstra syndrome are not inherited, however. The genetic change occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family, though they can pass the disorder on to their children. Only a few people with Kleefstra syndrome have been known to reproduce.  Rarely, affected individuals inherit a chromosome 9 with a deleted segment from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which no genetic material is gained or lost. Balanced translocations usually do not cause any health problems; however, they can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Individuals with Kleefstra syndrome who inherit an unbalanced translocation are missing genetic material from the long arm of chromosome 9.  A few individuals with Kleefstra syndrome have inherited the chromosome 9q34.3 deletion from an unaffected parent who is mosaic for the deletion. Mosaic means that an individual has the deletion in some cells (including some sperm or egg cells), but not in others.
Question: What are the genetic changes related to idiopathic pulmonary fibrosis ?

Answer: The cause of idiopathic pulmonary fibrosis is unknown, although the disease probably results from a combination of genetic and environmental factors. It is likely that genetic changes increase a person's risk of developing idiopathic pulmonary fibrosis, and then exposure to certain environmental factors triggers the disease.  Changes in several genes have been suggested as risk factors for idiopathic pulmonary fibrosis. Most of these genetic changes account for only a small proportion of cases. However, mutations in genes known as TERC and TERT have been found in about 15 percent of all cases of familial pulmonary fibrosis and a smaller percentage of cases of sporadic idiopathic pulmonary fibrosis. The TERC and TERT genes provide instructions for making components of an enzyme called telomerase, which maintains structures at the ends of chromosomes known as telomeres. It is not well understood how defects in telomerase are associated with the lung damage characteristic of idiopathic pulmonary fibrosis.  Researchers have also examined environmental risk factors that could contribute to idiopathic pulmonary fibrosis. These factors include exposure to wood or metal dust, viral infections, certain medications, and cigarette smoking. Some research suggests that gastroesophageal reflux disease (GERD) may also be a risk factor for idiopathic pulmonary fibrosis; affected individuals may breathe in (aspirate) stomach contents, which over time could damage the lungs.
Question: What are the genetic changes related to GM2-gangliosidosis, AB variant ?

Answer: Mutations in the GM2A gene cause GM2-gangliosidosis, AB variant. The GM2A gene provides instructions for making a protein called the GM2 ganglioside activator. This protein is required for the normal function of an enzyme called beta-hexosaminidase A, which plays a critical role in the brain and spinal cord. Beta-hexosaminidase A and the GM2 ganglioside activator protein work together in lysosomes, which are structures in cells that break down toxic substances and act as recycling centers. Within lysosomes, the activator protein binds to a fatty substance called GM2 ganglioside and presents it to beta-hexosaminidase A to be broken down.  Mutations in the GM2A gene disrupt the activity of the GM2 ganglioside activator, which prevents beta-hexosaminidase A from breaking down GM2 ganglioside. As a result, this substance accumulates to toxic levels, particularly in neurons in the brain and spinal cord. Progressive damage caused by the buildup of GM2 ganglioside leads to the destruction of these neurons, which causes the signs and symptoms of the AB variant.  Because the AB variant impairs the function of a lysosomal enzyme and involves the buildup of GM2 ganglioside, this condition is sometimes referred to as a lysosomal storage disorder or a GM2-gangliosidosis.
Question: What is (are) Nephrotic Syndrome in Adults ?

Answer: Nephrotic syndrome is a collection of symptoms that indicate kidney damage. Nephrotic syndrome includes the following:
                
- proteinurialarge amounts of protein in the urine  - hyperlipidemiahigher than normal fat and cholesterol levels in the blood  - edema, or swelling, usually in the legs, feet, or ankles and less often in the hands or face  - hypoalbuminialow levels of albumin in the blood
                
Albumin is a protein that acts like a sponge, drawing extra fluid from the body into the bloodstream where it remains until removed by the kidneys. When albumin leaks into the urine, the blood loses its capacity to absorb extra fluid from the body, causing edema.
                
Nephrotic syndrome results from a problem with the kidneys filters, called glomeruli. Glomeruli are tiny blood vessels in the kidneys that remove wastes and excess fluids from the blood and send them to the bladder as urine.
                
As blood passes through healthy kidneys, the glomeruli filter out the waste products and allow the blood to retain cells and proteins the body needs. However, proteins from the blood, such as albumin, can leak into the urine when the glomeruli are damaged. In nephrotic syndrome, damaged glomeruli allow 3 grams or more of protein to leak into the urine when measured over a 24-hour period, which is more than 20 times the amount that healthy glomeruli allow.
Question: What to do for What I need to know about Preparing for Pregnancy if I Have Diabetes ?

Answer: - If you have diabetes, the best time to control your blood glucose, also called blood sugar, is before you get pregnant. High blood glucose levels can be harmful to your baby during the first weeks of pregnancyeven before you know you are pregnant.  - Keeping your blood glucose as close to normal as possible before and during your pregnancy is the most important thing you can do to stay healthy and have a healthy baby.  - Before you get pregnant, you can plan and prepare for having a healthy pregnancy and a healthy baby. If you have diabetes and are already pregnant, you can make sure you are doing everything you can to take care of yourself and your diabetes during your pregnancy.  - Regular visits with members of a health care team who are experts in diabetes and pregnancy will ensure you get the best care. Your health care team can help you learn how to use a healthy eating plan, physical activity, and medicines to reach your blood glucose targets before and during pregnancy.  - During pregnancy, the safest diabetes medicine is insulin. Your health care team will work with you to make a personalized insulin routine. Some medicines are not safe during pregnancy and should be stopped before you get pregnant. Your doctor can tell you which medicines to stop taking.  - You will have tests throughout your pregnancy to check your baby's health.  - You can give your baby a healthy start by breastfeeding.
Question: What is (are) Alzheimer's Disease ?

Answer: Alzheimer's disease has three stages: early (also called mild), middle (moderate), and late (severe). A person in the early stage of Alzheimers may - find it hard to remember things  -  ask the same questions over and over  -  get lost in familiar places  -  lose things or put them in odd places  - have trouble handling money and paying bills  - take longer than normal to finish daily tasks. find it hard to remember things ask the same questions over and over get lost in familiar places lose things or put them in odd places have trouble handling money and paying bills take longer than normal to finish daily tasks. As Alzheimers disease progresses to the middle stage, memory loss and confusion grow worse, and people may have problems recognizing family and friends. Other symptoms are this stage include -  difficulty learning new things and coping with new situations  - trouble carrying out tasks that involve multiple steps, like getting dressed  -  impulsive behavior  - forgetting the names of common things  - hallucinations, delusions, or paranoia  - wandering away from home. difficulty learning new things and coping with new situations trouble carrying out tasks that involve multiple steps, like getting dressed impulsive behavior forgetting the names of common things hallucinations, delusions, or paranoia wandering away from home. As Alzheimers disease becomes more severe, people lose the ability to communicate. They may sleep more, lose weight, and have trouble swallowing. Often they are incontinentthey cannot control their bladder and/or bowels. Eventually, they need total care.