umarjan11/Medical-qna huggingface dataset:
Question: What is (are) Multiple sclerosis ?

Answer: Multiple sclerosis (MS) is a degenerative disorder that affects the central nervous system, specifically the brain and the spinal cord. The disorder is characterized by destruction of the myelin, the fatty tissue that surrounds and protects the nerve fibers and promotes the transmission of nerve impulses, and damage to nerve cells. The symptoms vary widely from person to person, and may include sensory disturbances in the limbs, problems with muscle control, tremors, muscle stiffness (spasticity), exaggerated reflexes (hyperreflexia), weakness, difficulty walking, poor bladder control, and vision problems. Most patients have periods during which they have symptoms (clinical attacks). The clinical attacks are typically followed by periods without any symptoms (remission). After several years, the symptoms worsen continuously. Multiple sclerosis is considered an autoimmune disorder but the exact cause is unknown. Risk factors for developing multiple sclerosis include genetic factors like changes in the HLA-DRB1 gene and in the IL7R gene and environmental factors, such as exposure to the Epstein-Barr virus, low levels of vitamin D, and smoking. The goal of treatment of MS is to decrease attacks and the inflammation within the central nervous system.
Question: What causes Tumor necrosis factor receptor-associated periodic syndrome ?

Answer: What causes tumor necrosis factor receptor-associated periodic syndrome (TRAPS)? TRAPS is a genetic condition caused by mutations in a gene called TNFRSF1A. This gene gives the body instructions to make a protein called tumor necrosis factor receptor 1 (TNFR1). This protein exists in cell membranes where it binds to another protein called tumor necrosis factor (TNF). The binding sends signals that tell the cells to trigger inflammation (producing immune system proteins) or self-destruct. Most TNFRSF1A gene mutations that cause TRAPS result in incorrectly-shaped TNFR1 proteins, which become trapped in cells and cannot reach the surface to bind with TNF. The trapped proteins then clump together and are thought to trigger other pathways involved in causing inflammation. Affected people typically have a mutation in only one of their 2 copies of the TNFRSF1A gene, so some normal TNFR1 proteins are still produced, leading to even more inflammation. This is what leads to excess inflammation in people with TRAPS. It is unclear if abnormalities in the cells' ability to self-destruct also plays a role in causing the features of TRAPS.
Question: What are the treatments for Chronic inflammatory demyelinating polyneuropathy ?

Answer: How might chronic inflammatory demyelinating polyneuropathy (CIDP) be treated? The standard therapies for CIDP appear to be equally effective and include: intravenous immune globulin (IVIG) - adds large numbers of antibodies to the blood plasma to reduce the effect of the antibodies that are causing the problem glucocorticoids - help reduce inflammation and relieve symptoms plasma exchange - remove antibodies from the blood The treatment choice is influenced by the preference of the affected person, side effects, treatment cost, duration, ease of administration, and availability. Advantages and disadvantages of standard therapies may include the following: IVIG and plasma exchange may lead to a more rapid improvement in CIDP than glucocorticoid therapy, but are less likely than glucocorticoids to produce a remission IVIG is expensive, and its supply is sometimes limited Glucocorticoids are inexpensive, but chronic use is limited by common and important side effects Plasma exchange is expensive, invasive, and available only at specialized centers Other medications that suppress the immune system (immunosuppressants) may also be used. Physiotherapy may improve muscle strength, function and mobility.
Question: What are the treatments for Parasites - Leishmaniasis ?

Answer: Before considering treatment, the first step is to make sure the diagnosis is correct.
    
Treatment decisions should be individualized. Health care providers may consult CDC staff about the relative merits of various approaches. Examples of factors to consider include the form of leishmaniasis, the Leishmania species that caused it, the potential severity of the case, and the patient's underlying health.
    
The skin sores of cutaneous leishmaniasis usually heal on their own, even without treatment. But this can take months or even years, and the sores can leave ugly scars. Another potential concern applies to some (not all) types of the parasite found in parts of Latin America: certain types might spread from the skin and cause sores in the mucous membranes of the nose (most common location), mouth, or throat (mucosal leishmaniasis). Mucosal leishmaniasis might not be noticed until years after the original sores healed. The best way to prevent mucosal leishmaniasis is to ensure adequate treatment of the cutaneous infection.
    
If not treated, severe (advanced) cases of visceral leishmaniasis typically are fatal.
    
More on: Resources for Health Professionals: Treatment
Question: What are the genetic changes related to microcephalic osteodysplastic primordial dwarfism type II ?

Answer: Mutations in the PCNT gene cause MOPDII. The PCNT gene provides instructions for making a protein called pericentrin. Within cells, this protein is located in structures called centrosomes. Centrosomes play a role in cell division and the assembly of microtubules. Microtubules are fibers that help cells maintain their shape, assist in the process of cell division, and are essential for the transport of materials within cells. Pericentrin acts as an anchoring protein, securing other proteins to the centrosome. Through its interactions with these proteins, pericentrin plays a role in regulation of the cell cycle, which is the cell's way of replicating itself in an organized, step-by-step fashion.  PCNT gene mutations lead to the production of a nonfunctional pericentrin protein that cannot anchor other proteins to the centrosome. As a result, centrosomes cannot properly assemble microtubules, leading to disruption of the cell cycle and cell division. Impaired cell division causes a reduction in cell production, while disruption of the cell cycle can lead to cell death. This overall reduction in the number of cells leads to short bones, microcephaly, and the other signs and symptoms of MOPDII.
Question: What are the genetic changes related to esophageal atresia/tracheoesophageal fistula ?

Answer: Isolated EA/TEF is considered to be a multifactorial condition, which means that multiple gene variations and environmental factors likely contribute to its occurrence. In most cases of isolated EA/TEF, no specific genetic changes or environmental factors have been conclusively determined to be the cause.  Non-isolated or syndromic forms of EA/TEF can be caused by changes in single genes or in chromosomes, or they can be multifactorial. For example, approximately 10 percent of people with CHARGE syndrome, which is usually caused by mutations in the CHD7 gene, have EA/TEF. About 25 percent of individuals with the chromosomal abnormality trisomy 18 are born with EA/TEF. EA/TEF also occurs in VACTERL association, a multifactorial condition. VACTERL is an acronym that stands for vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities. People diagnosed with VACTERL association typically have at least three of these features; between 50 and 80 percent have a tracheoesophageal fistula.
Question: What are the genetic changes related to 7q11.23 duplication syndrome ?

Answer: 7q11.23 duplication syndrome results from an extra copy of a region on the long (q) arm of chromosome 7 in each cell. This region is called the Williams-Beuren syndrome critical region (WBSCR) because its deletion causes a different disorder called Williams syndrome, also known as Williams-Beuren syndrome. The region, which is 1.5 to 1.8 million DNA base pairs (Mb) in length, includes 26 to 28 genes.  Extra copies of several of the genes in the duplicated region, including the ELN and GTF2I genes, likely contribute to the characteristic features of 7q11.23 duplication syndrome. Researchers suggest that an extra copy of the ELN gene in each cell may be related to the increased risk for aortic dilatation in 7q11.23 duplication syndrome. Studies suggest that an extra copy of the GTF2I gene may be associated with some of the behavioral features of the disorder. However, the specific causes of these features are unclear.  Researchers are studying additional genes in the duplicated region, but none have been definitely linked to any of the specific signs or symptoms of 7q11.23 duplication syndrome.
Question: What is (are) Meckel syndrome ?

Answer: Meckel syndrome is a disorder with severe signs and symptoms that affect many parts of the body. The most common features are enlarged kidneys with numerous fluid-filled cysts; an occipital encephalocele, which is a sac-like protrusion of the brain through an opening at the back of the skull; and the presence of extra fingers and toes (polydactyly). Most affected individuals also have a buildup of scar tissue (fibrosis) in the liver.  Other signs and symptoms of Meckel syndrome vary widely among affected individuals. Numerous abnormalities of the brain and spinal cord (central nervous system) have been reported in people with Meckel syndrome, including a group of birth defects known as neural tube defects. These defects occur when a structure called the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. Meckel syndrome can also cause problems with development of the eyes and other facial features, heart, bones, urinary system, and genitalia.  Because of their serious health problems, most individuals with Meckel syndrome die before or shortly after birth. Most often, affected infants die of respiratory problems or kidney failure.
Question: What are the genetic changes related to Clouston syndrome ?

Answer: Clouston syndrome is caused by mutations in the GJB6 gene. This gene provides instructions for making a protein called gap junction beta 6, more commonly known as connexin 30. Connexin 30 is a member of the connexin protein family. Connexin proteins form channels called gap junctions, which permit the transport of nutrients, charged atoms (ions), and signaling molecules between neighboring cells. The size of the gap junction and the types of particles that move through it are determined by the particular connexin proteins that make up the channel. Gap junctions made with connexin 30 transport potassium ions and certain small molecules.  Connexin 30 is found in several different tissues throughout the body, including the skin (especially on the palms of the hands and soles of the feet), hair follicles, and nail beds, and plays a role in the growth and development of these tissues.  GJB6 gene mutations that cause Clouston syndrome change single protein building blocks (amino acids) in the connexin 30 protein. Although the effects of these mutations are not fully understood, they lead to abnormalities in the growth, division, and maturation of cells in the hair follicles, nails, and skin.
Question: How to diagnose Proteinuria ?

Answer: Until recently, an accurate protein measurement required a 24-hour urine collection. In a 24-hour collection, the patient urinates into a container, which is kept refrigerated between trips to the bathroom. The patient is instructed to begin collecting urine after the first trip to the bathroom in the morning. Every drop of urine for the rest of the day is to be collected in the container. The next morning, the patient adds the first urination after waking and the collection is complete.
                
In recent years, researchers have found that a single urine sample can provide the needed information. In the newer technique, the amount of albumin in the urine sample is compared with the amount of creatinine, a waste product of normal muscle breakdown. The measurement is called a urine albumin-to-creatinine ratio (UACR). A urine sample containing more than 30 milligrams of albumin for each gram of creatinine (30 mg/g) is a warning that there may be a problem. If the laboratory test exceeds 30 mg/g, another UACR test should be done 1 to 2 weeks later. If the second test also shows high levels of protein, the person has persistent proteinuria, a sign of declining kidney function, and should have additional tests to evaluate kidney function.
Question: What is (are) Depression ?

Answer: Major depressive disorder, also called major depression or clinical depression, is characterized by a combination of symptoms that interfere with your ability to work, sleep, concentrate, eat, and enjoy activities you once liked. Major depression keeps a person from functioning normally. Dysthymic disorder, or dysthymia, is a less severe but sometimes more long-lasting form of depression. It is characterized by symptoms lasting two years or longer that keep you from functioning normally or feeling well. Subsyndromal depression, affecting many older adults, includes real symptoms of depression that are less severe than major depression or dysthymia. Having sybsydromal depression may increase your risk of developing major depression. Psychotic depression  occurs when a person has severe depression plus some form of psychosis, such as having disturbing false beliefs or a break with reality (delusions), or hearing or seeing upsetting things that others cannot hear or see (hallucinations). Bipolar depression  also called manic-depressive illness, is not as common as major depression or dysthymia. Bipolar disorder is characterized by cycling mood changesfrom extreme highs (e.g., mania) to extreme lows (e.g., depression).
Question: Who is at risk for Skin Cancer? ?

Answer: The best way to reduce your skin cancer risk is to reduce your exposure to ultraviolet (UV) rays from the sun. To do this, you can avoid outdoor activities during midday, when the sun's rays are strongest, or wear protective clothing, such as a wide-brimmed hat, long-sleeved shirt, and pants. (Watch the video to learn more about how to protect your skin. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Darker-colored clothing is more protective against the sun. A white t-shirt, for example, provides little resistance to ultraviolet (UV) rays, particularly if it gets wet. In addition, wearing sunglasses that wrap around the face or have large frames is a good way to shield the delicate skin around the eyes. When going outside, you should always wear sunscreen and lipscreen. Your sunscreen should have an SPF of at least 15. UV radiation can also come from sunlamps, tanning beds, or tanning booths. UV radiation is present even in cold weather or on a cloudy day. A person's risk of cancer is related to lifetime exposure to UV radiation.
Question: What is (are) Anthrax ?

Answer: Anthrax is a disease caused by Bacillus anthracis, a germ that lives in soil. Many people know about it from the 2001 bioterror attacks. In the attacks, someone purposely spread anthrax through the U.S. mail. This killed five people and made 22 sick.     Anthrax is rare. It affects animals such as cattle, sheep, and goats more often than people. People can get anthrax from contact with infected animals, wool, meat, or hides. It can cause three forms of disease in people. They are       -  Cutaneous, which affects the skin. People with cuts or open sores can get it if they touch the bacteria.     -  Inhalation, which affects the lungs. You can get this if you breathe in spores of the bacteria.     -  Gastrointestinal, which affects the digestive system. You can get it by eating infected meat.       Antibiotics often cure anthrax if it is diagnosed early. But many people don't know they have anthrax until it is too late to treat. A vaccine to prevent anthrax is available for people in the military and others at high risk.     NIH: National Institute of Allergy and Infectious Diseases
Question: What are the symptoms of Nelson syndrome ?

Answer: What are the signs and symptoms of Nelson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nelson 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 skin - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What is (are) Spondylocostal dysostosis 3 ?

Answer: Spondylocostal dysostosis is a group of conditions characterized by abnormal development of the bones in the spine and ribs. In the spine, the vertebrae are misshapen and fused. Many people with this condition have an abnormal side-to-side curvature of the spine (scoliosis). The ribs may be fused together or missing. These bone malformations lead to short, rigid necks and short midsections. Infants with spondylocostal dysostosis have small, narrow chests that cannot fully expand. This can lead to life-threatening breathing problems. Males with this condition are at an increased risk for inguinal hernia, where the diaphragm is pushed down, causing the abdomen to bulge out. There are several types of spondylocostal dysostosis. These types have similar features and are distinguished by their genetic cause and how they are inherited.  Spondylocostal dysostosis 3 is caused by mutations in the LFNG gene. It is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive and may include respiratory support and surgery to correct inguinal hernia and scoliosis.
Question: What causes 48,XXYY syndrome ?

Answer: What causes 48,XXYY? 48,XXYY syndrome is a condition related to the X and Y chromosomes (the sex chromosomes). People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Females typically have two X chromosomes (46,XX), and males have one X chromosome and one Y chromosome (46,XY). 48,XXYY syndrome results from the presence of an extra copy of both sex chromosomes in each of a male's cells (48,XXYY). Extra copies of genes on the X chromosome interfere with male sexual development, preventing the testes from functioning normally and reducing the levels of testosterone. Many genes are found only on the X or Y chromosome, but genes in areas known as the pseudoautosomal regions are present on both sex chromosomes. Extra copies of genes from the pseudoautosomal regions of the extra X and Y chromosome contribute to the signs and symptoms of 48,XXYY syndrome; however, the specific genes have not been identified.[5209]
Question: How to diagnose Benign schwannoma ?

Answer: Is genetic testing available for schwannomas? Genetic testing is not available for many individuals with schwannomas since most of these tumors occur sporadically (by chance) and are not caused by a genetic mutation. However, genetic testing is an option for people with an inherited condition that predisposes to schwannomas such as certain types of neurofibromatosis (neurofibromatosis type 2 and schwannomatosis). Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. It provides a list of laboratories performing genetic testing for neurofibromatosis type 2 and schwannomatosis. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. How are schwannomas diagnosed? In addition to a complete physical exam and medical history, the following tests may be necessary to diagnose a schwannoma: x-ray, ultrasound, and/or magnetic resonance imaging (MRI). Some people may also need a biopsy of the tumor to confirm the diagnosis.
Question: What is (are) Zellweger spectrum ?

Answer: Zellweger spectrum refers to a group of related conditions that have overlapping signs and symptoms and affect many parts of the body. The spectrum includes Zellweger syndrome (ZS), the most severe form; neonatal adrenoleukodystrophy (NALD), an intermediate form; and infantile Refsum disease (IRD), the least severe form. Signs and symptoms of ZS typically become apparent in the newborn period and may include hypotonia, feeding problems, hearing and vision loss, seizures, distinctive facial characteristics, and skeletal abnormalities. Individuals with ZS often do not survive past the first year of life. The features of NALD and IRD often vary in nature and severity, and may not become apparent until late infancy or early childhood. Individuals with NALD or IRD may have hypotonia, vision and/or hearing problems, liver dysfunction, developmental delay and learning disabilities. Most individuals with NALD survive into childhood, and those with IRD may reach adulthood. Conditions in the Zellweger spectrum are caused by mutations in any of at least 12 genes and are inherited in an autosomal recessive manner. Treatment typically focuses on the specific signs and symptoms present in each individual.
Question: What are the symptoms of Trigger thumb ?

Answer: What are the signs and symptoms of Trigger thumb? The Human Phenotype Ontology provides the following list of signs and symptoms for Trigger thumb. 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 thumb - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.