umarjan11/Medical-qna huggingface dataset:
Question: What is (are) atopic dermatitis ?

Answer: Atopic dermatitis (also known as atopic eczema) is a disorder characterized by inflammation of the skin (dermatitis). The condition usually begins in early infancy, and it often disappears before adolescence. However, in some affected individuals the condition continues into adulthood or does not begin until adulthood. Hallmarks of atopic dermatitis include dry, itchy skin and red rashes that can come and go. The rashes can occur on any part of the body, although the pattern tends to be different at different ages. In affected infants, the rashes commonly occur on the face, scalp, hands, and feet. In children, the rashes are usually found in the bend of the elbows and knees and on the front of the neck. In adolescents and adults, the rashes typically occur on the wrists, ankles, and eyelids in addition to the bend of the elbows and knees. Scratching the itchy skin can lead to oozing and crusting of the rashes and thickening and hardening (lichenification) of the skin. The itchiness can be so severe as to disturb sleep and impair a person's quality of life.  The word "atopic" indicates an association with allergies. While atopic dermatitis is not always due to an allergic reaction, it is commonly associated with other allergic disorders: up to 60 percent of people with atopic dermatitis develop asthma or hay fever (allergic rhinitis) later in life, and up to 30 percent have food allergies. Atopic dermatitis is often the beginning of a series of allergic disorders, referred to as the atopic march. Development of these disorders typically follows a pattern, beginning with atopic dermatitis, followed by food allergies, then hay fever, and finally asthma. However, not all individuals with atopic dermatitis will progress through the atopic march, and not all individuals with one allergic disease will develop others.  Individuals with atopic dermatitis have an increased risk of developing other conditions related to inflammation, such as inflammatory bowel disease and rheumatoid arthritis. They are also more likely than individuals of the general public to have a behavioral or psychiatric disorder, such as attention deficit hyperactivity disorder (ADHD) or depression.
Question: What are the genetic changes related to autoimmune Addison disease ?

Answer: The cause of autoimmune Addison disease is complex and not completely understood. A combination of environmental and genetic factors plays a role in the disorder, and changes in multiple genes are thought to affect the risk of developing the condition.  The genes that have been associated with autoimmune Addison disease participate in the body's immune response. The most commonly associated genes belong to a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). Each HLA gene has many different normal variations, allowing each person's immune system to react to a wide range of foreign proteins. The most well-known risk factor for autoimmune Addison disease is a variant of the HLA-DRB1 gene called HLA-DRB1*04:04. This and other disease-associated HLA gene variants likely contribute to an inappropriate immune response that leads to autoimmune Addison disease, although the mechanism is unknown.  Normally, the immune system responds only to proteins made by foreign invaders, not to the body's own proteins. In autoimmune Addison disease, however, an immune response is triggered by a normal adrenal gland protein, typically a protein called 21-hydroxylase. This protein plays a key role in producing certain hormones in the adrenal glands. The prolonged immune attack triggered by 21-hydroxylase damages the adrenal glands (specifically the outer layers of the glands known, collectively, as the adrenal cortex), preventing hormone production. A shortage of adrenal hormones (adrenal insufficiency) disrupts several normal functions in the body, leading to hypoglycemia, hyponatremia, hypotension, muscle cramps, skin hyperpigmentation and other features of autoimmune Addison disease.  Rarely, Addison disease is not caused by an autoimmune reaction. Other causes include infections that damage the adrenal glands, such as tuberculosis, or tumors in the adrenal glands. Addison disease can also be one of several features of other genetic conditions, including X-linked adrenoleukodystrophy and autoimmune polyglandular syndrome, type 1, which are caused by mutations in other genes.
Question: What are the genetic changes related to methylmalonic acidemia with homocystinuria ?

Answer: Methylmalonic acidemia with homocystinuria can be caused by mutations in one of several genes: MMACHC, MMADHC, LMBRD1, ABCD4, or HCFC1. Mutations in these genes account for the different types of the disorder, which are known as complementation groups: cblC, cblD, cblF, cblJ, and cblX, respectively.  Each of the above-mentioned genes is involved in the processing of vitamin B12, also known as cobalamin or Cbl. Processing of the vitamin converts it to one of two molecules, adenosylcobalamin (AdoCbl) or methylcobalamin (MeCbl). AdoCbl is required for the normal function of an enzyme that helps break down certain amino acids, lipids, and cholesterol. AdoCbl is called a cofactor because it helps the enzyme carry out its function. MeCbl is also a cofactor, but for another enzyme that converts the amino acid homocysteine to another amino acid, methionine. The body uses methionine to make proteins and other important compounds.  Mutations in the MMACHC, MMADHC, LMBRD1, ABCD4, or HCFC1 gene affect early steps of vitamin B12 processing, resulting in a shortage of both AdoCbl and MeCbl. Without AdoCbl, proteins and lipids are not broken down properly. This defect allows potentially toxic compounds to build up in the body's organs and tissues, causing methylmalonic acidemia. Without MeCbl, homocysteine is not converted to methionine. As a result, homocysteine builds up in the bloodstream and methionine is depleted. Some of the excess homocysteine is excreted in urine (homocystinuria). Researchers have not determined how altered levels of homocysteine and methionine lead to the health problems associated with homocystinuria.  Mutations in other genes involved in vitamin B12 processing can cause related conditions. Those mutations that impair only AdoCbl production lead to methylmalonic acidemia, and those that impair only MeCbl production cause homocystinuria.
Question: What causes Proctitis ?

Answer: Proctitis has many causes, including acute, or sudden and short-term, and chronic, or long-lasting, conditions. Among the causes are the following:
                
- Sexually transmitted diseases (STDs). STDs that can be passed when a person is receiving anal sex are a common cause of proctitis. Common STD infections that can cause proctitis include gonorrhea, chlamydia, syphilis, and herpes. Herpes-induced proctitis may be particularly severe in people who are also infected with the HIV virus.  - Non-STD infections. Infections that are not sexually transmitted also can cause proctitis. Salmonella and Shigella are examples of foodborne bacteria that can cause proctitis. Streptococcal proctitis sometimes occurs in children who have strep throat.  - Anorectal trauma. Proctitis can be caused by trauma to the anorectal areawhich includes the rectum and anusfrom anal sex or the insertion of objects or harmful substances into the rectum, including the chemicals in some enemas.  - Ulcerative colitis and Crohns disease. Two forms of inflammatory bowel disease (IBD)ulcerative colitis and Crohns diseasecan cause proctitis. Ulcerative colitis causes irritation and ulcers, also called sores, in the inner lining of the colonpart of the large intestineand rectum. Crohns disease usually causes irritation in the lower small intestinealso called the ileumor the colon, but it can affect any part of the GI tract.  - Radiation therapy. People who have had radiation therapy that targets the pelvic area also may develop proctitis. Examples of those at risk are people with rectal, ovarian, or prostate cancer who have received radiation treatment directed to those areas. Symptoms of radiation proctitis, most commonly rectal bleeding, will typically occur within 6 weeks after beginning radiation therapy or more than 9 months after its completion.  - Antibiotics. Use of antibiotics may be associated with proctitis in some people. While meant to kill infectioncausing bacteria, antibiotics can also kill nonharmful, or commensal, bacteria in the GI tract. The loss of commensal bacteria can then allow other harmful bacteria known as Clostridium difficile to cause an infection in the colon and rectum.
Question: What are the symptoms of ACTH-independent macronodular adrenal hyperplasia ?

Answer: What are the signs and symptoms of ACTH-independent macronodular adrenal hyperplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for ACTH-independent macronodular adrenal hyperplasia. 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) Hypercortisolism 90% Round face 90% Thin skin 90% Truncal obesity 90% Abnormality of the menstrual cycle 50% Behavioral abnormality 50% Bruising susceptibility 50% Diabetes mellitus 50% Hypertension 50% Hypertrichosis 50% Muscle weakness 50% Nephrolithiasis 50% Reduced bone mineral density 50% Meningioma 7.5% Adult onset - Agitation - Anxiety - Autosomal dominant inheritance - Decreased circulating ACTH level - Depression - Increased circulating cortisol level - Kyphosis - Macronodular adrenal hyperplasia - Mental deterioration - Mood changes - Neoplasm - Osteopenia - Osteoporosis - Primary hypercorticolism - Psychosis - Skeletal muscle atrophy - Sporadic - Striae distensae - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the treatments for Hereditary multiple osteochondromas ?

Answer: How might hereditary multiple osteochondromas (HMO) be treated? Currently, there is no known medical treatment for HMO. Osteochondromas are not usually removed because they stop growing around age 12. Another consideration is how close the tumor is to the affected bone's growth plate, because surgery can affect how the bone grows. Surgery may be considered, however, if an osteochondroma is causing pain, bone fracture, nerve irritation, or if the tumor continues to grow after the person's bones have stopped growing. The surgical treatment of choice is complete removal of the tumor. Depending on the location of the osteochondroma, this may be relatively simple. However, if an osteochondroma is close to nerves and blood vessels, this may make surgery difficult and risky. Surgery may also be necessary to correct painful limb abnormalities that are caused by multiple osteochondromas. Surgery may be needed to cut and realign the bones that have become deformed, which is known as osteotomy. If the legs are not equal in length, treatment may include a procedure to slow down the growth of the longer leg. Surgery may also be needed to correct the forearm deformity seen in this condition. Adults with this condition who have untreated forearm deformities usually do not have significant functional limitations. Although rare, an osteochondroma can become cancerous (malignant), which usually takes the form of a low grade chondrosarcoma. This type of malignant tumor is unlikely to spread elsewhere in the body. Higher grades of cancer can occur, but this is even more uncommon. In that case, other therapies, such as chemotherapy and radiation, may be used in treatment. GeneReviews provides more information about treatment for hereditary multiple osteochondromas. How might a malignant transformation in hereditary multiple exostoses (HME) be treated? Chondrosarcomas in a person with HME tend to be well differentiated and low grade tumors. The tumors usually grow slowly and do not readily metastasize. Surgical removal is the recommended treatment as the condrosarcomas do not respond to radiation or chemotherapy. The prognosis or long term outlook after surgical removal of the chondrosarcoma for a person with HME is good as long as the tumor has not metastasized.
Question: What are the symptoms of Hereditary mucoepithelial dysplasia ?

Answer: What are the signs and symptoms of Hereditary mucoepithelial dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary mucoepithelial dysplasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cataract 90% Corneal dystrophy 90% Fine hair 90% Furrowed tongue 90% Gingival overgrowth 90% Hyperkeratosis 90% Tracheoesophageal fistula 90% Abnormality of female internal genitalia 50% Nystagmus 50% Photophobia 50% Pulmonary fibrosis 50% Hematuria 7.5% Chronic diarrhea 5% Melena 5% Nail dysplasia 5% Nail dystrophy 5% Recurrent pneumonia 5% Alopecia - Autosomal dominant inheritance - Blindness - Chronic monilial nail infection - Chronic mucocutaneous candidiasis - Coarse hair - Congenital onset - Cor pulmonale - Corneal neovascularization - Eosinophilia - Esotropia - Fibrocystic lung disease - Keratoconjunctivitis - Opacification of the corneal stroma - Pneumonia - 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) progressive external ophthalmoplegia ?

Answer: Progressive external ophthalmoplegia is a condition characterized by weakness of the eye muscles. The condition typically appears in adults between ages 18 and 40. The most common signs and symptoms of progressive external ophthalmoplegia are drooping eyelids (ptosis), which can affect one or both eyelids, and weakness or paralysis of the muscles that move the eye (ophthalmoplegia). Affected individuals may also have general weakness of the skeletal muscles (myopathy), particularly in the neck, arms, or legs. The weakness may be especially noticeable during exercise (exercise intolerance). Muscle weakness may also cause difficulty swallowing (dysphagia).  When the muscle cells of affected individuals are stained and viewed under a microscope, these cells usually appear abnormal. These abnormal muscle cells contain an excess of structures called mitochondria and are known as ragged-red fibers. Additionally, a close study of muscle cells may reveal abnormalities in a type of DNA found in mitochondria called mitochondrial DNA (mtDNA). Affected individuals often have large deletions of genetic material from mtDNA in muscle tissue.  Although muscle weakness is the primary symptom of progressive external ophthalmoplegia, this condition can be accompanied by other signs and symptoms. In these instances, the condition is referred to as progressive external ophthalmoplegia plus (PEO+). Additional signs and symptoms can include hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss), weakness and loss of sensation in the limbs due to nerve damage (neuropathy), impaired muscle coordination (ataxia), a pattern of movement abnormalities known as parkinsonism, or depression.  Progressive external ophthalmoplegia is part of a spectrum of disorders with overlapping signs and symptoms. Similar disorders include other conditions caused by POLG gene mutations, such as ataxia neuropathy spectrum, as well as other mtDNA deletion disorders, such as Kearns-Sayre syndrome. Like progressive external ophthalmoplegia, the other conditions in this spectrum can involve weakness of the eye muscles. However, these conditions have many additional features not shared by most people with progressive external ophthalmoplegia.
Question: What is (are) mucopolysaccharidosis type VII ?

Answer: Mucopolysaccharidosis type VII (MPS VII), also known as Sly syndrome, is a progressive condition that affects most tissues and organs. The severity of MPS VII varies widely among affected individuals.  The most severe cases of MPS VII are characterized by hydrops fetalis, a condition in which excess fluid builds up in the body before birth. Most babies with hydrops fetalis are stillborn or die soon after birth. Other people with MPS VII typically begin to show signs and symptoms of the condition during early childhood. The features of MPS VII include a large head (macrocephaly), a buildup of fluid in the brain (hydrocephalus), distinctive-looking facial features that are described as "coarse," and a large tongue (macroglossia). Affected individuals also frequently develop an enlarged liver and spleen (hepatosplenomegaly), heart valve abnormalities, and a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). The airway may become narrow in some people with MPS VII, leading to frequent upper respiratory infections and short pauses in breathing during sleep (sleep apnea). The clear covering of the eye (cornea) becomes cloudy, which can cause significant vision loss. People with MPS VII may also have recurrent ear infections and hearing loss. Affected individuals may have developmental delay and progressive intellectual disability, although intelligence is unaffected in some people with this condition.  MPS VII causes various skeletal abnormalities that become more pronounced with age, including short stature and joint deformities (contractures) that affect mobility. Individuals with this condition may also have dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. Carpal tunnel syndrome develops in many children with MPS VII and is characterized by numbness, tingling, and weakness in the hands and fingers. People with MPS VII may develop a narrowing of the spinal canal (spinal stenosis) in the neck, which can compress and damage the spinal cord.  The life expectancy of individuals with MPS VII depends on the severity of symptoms. Some affected individuals do not survive infancy, while others may live into adolescence or adulthood. Heart disease and airway obstruction are major causes of death in people with MPS VII.
Question: What is (are) Psoriasis ?

Answer: Psoriasis (sow RYE uh sis) is a chronic skin disease. Chronic means that it lasts a long time, often a lifetime. Psoriasis affects more than 5 million adults in the United States. It appears about equally in males and females. Psoriasis occurs when the skin cells grow too quickly. The body does not shed these excess cells and they build up on the surface of the skin, forming thick, scaly patches.   Types of Psoriasis Psoriasis occurs in five different forms that affect both men and women. Most people have only one type of psoriasis at a time. Sometimes, one type of psoriasis will disappear and another will appear. Here is a brief overview of the different forms of psoriasis. - Is the most common form  - appears as raised red patches covered in silvery white scales   - usually shows up on the scalp, knees, elbows and lower back   - patches may itch or be painful and can also crack and bleed.  Is the most common form appears as raised red patches covered in silvery white scales usually shows up on the scalp, knees, elbows and lower back patches may itch or be painful and can also crack and bleed. - is the second most common form of psoriasis  - usually begins in childhood or early adulthood   - appears as small red spots on the skin.  is the second most common form of psoriasis usually begins in childhood or early adulthood appears as small red spots on the skin. - appears as red sores in body folds, such as the groin and under the breasts  - is more common in people who are overweight   - often occurs along with another form of psoriasis.  appears as red sores in body folds, such as the groin and under the breasts is more common in people who are overweight often occurs along with another form of psoriasis. - features white blisters surrounded by red skin  - mainly affects adults  - may occur all over the body, but usually affects one area.  features white blisters surrounded by red skin mainly affects adults may occur all over the body, but usually affects one area. - is the rarest and most dangerous form of psoriasis   - is characterized by inflammation  - usually affects most of the body.  is the rarest and most dangerous form of psoriasis is characterized by inflammation usually affects most of the body.