umarjan11/Medical-qna huggingface dataset:
Question: What is (are) childhood myocerebrohepatopathy spectrum ?

Answer: Childhood myocerebrohepatopathy spectrum, commonly called MCHS, is part of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. MCHS typically becomes apparent in children from a few months to 3 years old. People with this condition usually have problems with their muscles (myo-), brain (cerebro-), and liver (hepato-).  Common signs and symptoms of MCHS include muscle weakness (myopathy), developmental delay or a deterioration of intellectual function, and liver disease. Another possible sign of this condition is a toxic buildup of lactic acid in the body (lactic acidosis). Often, affected children are unable to gain weight and grow at the expected rate (failure to thrive).  Additional signs and symptoms of MCHS can include a form of kidney disease called renal tubular acidosis, inflammation of the pancreas (pancreatitis), recurrent episodes of nausea and vomiting (cyclic vomiting), or hearing loss.
Question: What are the genetic changes related to childhood myocerebrohepatopathy spectrum ?

Answer: MCHS is caused by mutations in the POLG gene. This gene provides instructions for making one part, the alpha subunit, of a protein called polymerase gamma (pol ). Pol  functions in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells can use. Mitochondria each contain a small amount of DNA, known as mitochondrial DNA (mtDNA), which is essential for the normal function of these structures. Pol  "reads" sequences of mtDNA and uses them as templates to produce new copies of mtDNA in a process called DNA replication.  Most POLG gene mutations change single protein building blocks (amino acids) in the alpha subunit of pol . These changes result in a mutated pol  that has a reduced ability to replicate DNA. Although the mechanism is unknown, mutations in the POLG gene often result in fewer copies of mtDNA (mtDNA depletion), particularly in muscle, brain, or liver cells. MtDNA depletion causes a decrease in cellular energy, which could account for the signs and symptoms of MCHS.
Question: How many people are affected by Alagille Syndrome ?

Answer: Alagille syndrome occurs in about one of every 30,000 live births.3 The disorder affects both sexes equally and shows no geographical, racial, or ethnic preferences.
                
JAG1 and NOTCH2 gene mutations are inherited in an autosomal dominant way, which means a child can get Alagille syndrome by inheriting either of the gene mutations from only one parent. Each child of a parent with an autosomal dominant mutation has a 50 percent chance of inheriting the mutated gene.
                
The following chart shows the chance of inheriting an autosomal dominant gene mutation:
                
The gene mutations that cause Alagille syndrome may cause mild or subtle symptoms. Some people may not know they are affected, while others with the gene mutation may develop more serious characteristics of Alagille syndrome. A person with a gene mutation, whether showing serious symptoms or not, has Alagille syndrome and can pass the gene mutation to a child.
                
Read more about how genetic conditions are inherited at the NLM's Genetics Home Reference website at www.ghr.nlm.nih.gov.
Question: What causes Ectopic Kidney ?

Answer: During fetal development, a babys kidneys first appear as buds inside the pelvisthe bowl-shaped bone that supports the spine and holds up the digestive, urinary, and reproductive organsnear the bladder. As the kidneys develop, they move gradually toward their usual position in the back near the rib cage. Sometimes, one of the kidneys remains in the pelvis or stops moving before it reaches its usual position. In other cases, the kidney moves higher than the usual position. Rarely does a child have two ectopic kidneys.
                
Most kidneys move toward the rib cage, but one may cross over so that both kidneys are on the same side of the body. When a crossover occurs, the two kidneys often grow together and become fused.
                
Factors that may lead to an ectopic kidney include
                
- poor development of a kidney bud  - a defect in the kidney tissue responsible for prompting the kidney to move to its usual position  - genetic abnormalities  - the mother being sick or being exposed to an agent, such as a drug or chemical, that causes birth defects
Question: What is (are) Syphilis ?

Answer: Syphilis is a sexually transmitted disease caused by bacteria. It infects the genital area, lips, mouth, or anus of both men and women. You usually get syphilis from sexual contact with someone who has it. It can also pass from mother to baby during pregnancy.    The early stage of syphilis usually causes a single, small, painless sore. Sometimes it causes swelling in nearby lymph nodes. If you do not treat it, syphilis usually causes a non-itchy skin rash, often on your hands and feet. Many people do not notice symptoms for years. Symptoms can go away and come back.    The sores caused by syphilis make it easier to get or give someone HIV during sex. If you are pregnant, syphilis can cause birth defects, or you could lose your baby. In rare cases, syphilis causes serious health problems and even death.    Syphilis is easy to cure with antibiotics if you catch it early. Correct usage of latex condoms greatly reduces, but does not completely eliminate, the risk of catching or spreading syphilis.    NIH: National Institute of Allergy and Infectious Diseases
Question: What is (are) Fatigue ?

Answer: Everyone feels tired now and then. Sometimes you may just want to stay in bed. But, after a good night's sleep, most people feel refreshed and ready to face a new day. If you continue to feel tired for weeks, it's time to see your doctor. He or she may be able to help you find out what's causing your fatigue and recommend ways to relieve it.    Fatigue itself is not a disease. Medical problems, treatments, and personal habits can add to fatigue. These include       - Taking certain medicines, such as antidepressants, antihistamines, and medicines for nausea and pain    - Having medical treatments, like chemotherapy and radiation    - Recovering from major surgery    - Anxiety, stress, or depression    - Staying up too late    - Drinking too much alcohol or too many caffeinated drinks    - Pregnancy       One disorder that causes extreme fatigue is chronic fatigue syndrome (CFS). This fatigue is not the kind of tired feeling that goes away after you rest. Instead, it lasts a long time and limits your ability to do ordinary daily activities.    NIH: National Institute on Aging
Question: What is (are) Ovarian Cancer ?

Answer: The ovaries are part of the female reproductive system. They produce a woman's eggs and female hormones. Each ovary is about the size and shape of an almond.    Cancer of the ovary is not common, but it causes more deaths than other female reproductive cancers. The sooner ovarian cancer is found and treated, the better your chance for recovery. But ovarian cancer is hard to detect early. Women with ovarian cancer may have no symptoms or just mild symptoms until the disease is in an advanced stage. Then it is hard to treat. Symptoms may include       - A heavy feeling in the pelvis    - Pain in the lower abdomen    -  Bleeding from the vagina    -  Weight gain or loss    -  Abnormal periods    -  Unexplained back pain that gets worse    -  Gas, nausea, vomiting, or loss of appetite       To diagnose ovarian cancer, doctors do one or more tests. They include a physical exam, a pelvic exam, lab tests, ultrasound, or a biopsy. Treatment is usually surgery followed by chemotherapy.    NIH: National Cancer Institute
Question: What is (are) Guillain-Barre Syndrome ?

Answer: Guillain-Barre syndrome is a rare disorder that causes your immune system to attack your peripheral nervous system (PNS). The PNS nerves connect your brain and spinal cord with the rest of your body. Damage to these nerves makes it hard for them to transmit signals. As a result, your muscles have trouble responding to your brain. No one knows what causes the syndrome. Sometimes it is triggered by an infection, surgery, or a vaccination.     The first symptom is usually weakness or a tingling feeling in your legs. The feeling can spread to your upper body. In severe cases, you become almost paralyzed. This is life-threatening. You might need a respirator to breathe. Symptoms usually worsen over a period of weeks and then stabilize.     Guillain-Barre can be hard to diagnose. Possible tests include nerve tests and a spinal tap. Most people recover. Recovery can take a few weeks to a few years. Treatment can help symptoms, and may include medicines or a procedure called plasma exchange.    NIH: National Institute of Neurological Disorders and Stroke
Question: What is (are) Renal oncocytoma ?

Answer: Renal oncocytoma is a benign (noncancerous) growth of the kidney. They generally do not cause any signs or symptoms and are often discovered incidentally (by chance) while a person is undergoing diagnostic imaging for other conditions. Some people with renal oncocytoma will have abdominal or flank pain; blood in the urine; and/or an abdominal mass. Although these tumors can occur in people of all ages, they most commonly develop in men who are over age 50. The exact underlying cause of most isolated (single tumor affecting one kidney) renal oncocytomas is unknown; however, multiple and bilateral (affecting both kidneys) renal oncocytomas sometimes occur in people with certain genetic syndromes such as tuberous sclerosis complex and Birt-Hogg-Dube syndrome. Although many benign tumors do not require treatment unless they are causing unpleasant symptoms, it can be difficult to confidently differentiate a renal oncocytoma from renal cell carcinoma. Most affected people are, therefore, treated with surgery which allows for confirmation of the diagnosis.
Question: What are the treatments for Epithelial basement membrane corneal dystrophy ?

Answer: How might epithelial basement membrane corneal dystrophy be treated? Because most people do not develop noticeable signs or symptoms, treatment usually is not necessary. However, if treatment is needed, doctors will try to control the pain associated with the epithelial erosions. They may patch the eye to immobilize it, or prescribe lubricating eye drops and ointments. With treatment, these erosions usually heal within three days, although periodic flashes of pain may occur for several weeks thereafter. Other treatments include anterior corneal punctures to allow better adherence of cells; corneal scraping to remove eroded areas of the cornea and allow regeneration of healthy epithelial tissue; and use of the excimer laser to remove surface irregularities. An article from eMedicine Journal provides additional information on treatment for epithelial basement membrane corneal dystrophy at the following link. You may need to register to view the article, but registration is free. http://emedicine.medscape.com/article/1193945-treatment#showall
Question: What causes Mosaic trisomy 14 ?

Answer: What causes mosaic trisomy 14? Individuals with mosaic trisomy 14 have a duplication of chromosome 14 material in some of their cells, while other cells have a normal chromosomal makeup. The additional chromosomal material is responsible for the features that are characteristic of the condition. Most cases of mosaic trisomy 14 appear to result from random errors in the separation of chromosomes (nondisjunction) -- either during the division of the egg or sperm in one of the parents, or during cell division after fertilization. There have been some reports in which it may have occurred due to other phenomenon, such as uniparental disomy or the formation of an isochromosome. Uniparental disomy is when an affected individual inherits both copies of a chromosomal pair from one parent, rather than one copy from each parent. An isochromosome is an abnormal chromosome with identical arms on each side of the centromere. Unique has a leaflet on their Web site that contains additional descriptions and illustrations of how mosaic trisomy 14 may occur. Click here to view the leaflet.
Question: What is (are) Pulmonary alveolar proteinosis acquired ?

Answer: Acquired pulmonary alveolar proteinosis (PAP) is a rare, acquired lung disorder characterized by the accumulation of grainy material consisting mostly of protein and fat (lipoproteinaceous material) in the air sacs of the lungs (alveoli). Most cases affect adults between the ages of 20-50. The symptoms can vary greatly; some individuals may not show symptoms, while others may experience progressive difficulty breathing and shortness of breath upon exertion. Other signs and symptoms may include a dry, chronic cough; fatigue; weight loss; chest pain; and a general feeling of ill health. In rare cases, the coughing up of blood, rounding and swelling of the tips of the fingers, and cyanosis may be present. Most cases occur for no known reason, but some cases may occur secondary to environmental exposures or underlying diseases; some researchers believe it may be an autoimmune disorder. The treatment varies from case to case depending upon the age of the affected individual and severity of the disease. Acquired PAP differs from congenital PAP, an extremely rare form of PAP that occurs in some newborns.
Question: What is (are) Hermansky-Pudlak syndrome ?

Answer: Hermansky-Pudlak syndrome is a multisystem, genetic condition characterized by blood platelet dysfunction with prolonged bleeding, visual impairment, and abnormally light coloring of the skin, hair, and eyes (oculocutaneous albinism). Long-term sun exposure greatly increases the risk of skin damage and skin cancers. Some individuals have colitis, kidney failure, and pulmonary fibrosis. Symptoms of pulmonary fibrosis usually appear during the early thirties and rapidly worsen. This condition is inherited in an autosomal recessive fashion. Treatment is symptomatic and supportive. There are nine different types of Hermansky-Pudlak syndrome, which can be distinguished by their signs and symptoms and underlying genetic cause. Types 1 and 4 are the most severe forms. Types 1, 2, and 4 are the only types associated with pulmonary fibrosis. Individuals with type 3, 5, or 6 have the mildest symptoms of all the types. Little is known about the signs, symptoms, and severity of types 7, 8 and 9.
Question: What is (are) Familial hemiplegic migraine type 3 ?

Answer: Familial hemiplegic migraine (FHM) is a form of migraine headache that runs in families. Migraines usually cause intense, throbbing pain in one area of the head, often accompanied by nausea, vomiting, and extreme sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and may last from a few hours to a few days. People with familial hemiplegic migraine experience an aura that comes before the headache. The most common symptoms associated with an aura are temporary visual changes such as blind spots (scotomas), flashing lights, zig-zagging lines, and double vision. In people with familial hemiplegic migraine, auras are also characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). An aura typically develops gradually over a few minutes and lasts about an hour. Researchers have identified three forms of familial hemiplegic migraine known as FHM1, FHM2, and FHM3. Each of the three types is caused by mutations in a different gene.
Question: What is (are) Generalized pustular psoriasis ?

Answer: Generalized pustular psoriasis is a severe inflammatory skin condition that can be life-threatening. Affected people develop episodes of red and tender skin with widespread pustules throughout their body. This is generally accompanied by fever, chills, headache, rapid pulse rate, loss of appetite, nausea and muscle weakness. The condition generally resolves within days or weeks; however, relapses are common. Some cases of generalized pustular psoriasis are caused by changes (mutations) in the IL36RN gene and are inherited in an autosomal recessive manner. Possible triggers for sporadic forms of the condition include withdrawal from corticosteroids, exposure to certain medications, and/or infection; however, in many cases, the underlying cause is unknown. Generalized pustular psoriasis can be life threatening, so hospitalization and a specialist's care is usually required. Affected areas are treated with topical (on the skin) compresses with emollients and/or steroid creams. Certain medications may also be recommended to manage non-skin-related symptoms.
Question: What is (are) Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency ?

Answer: Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (NCAH) is a milder and later onset form of a genetic condition known as congenital adrenal hyperplasia. Some people affected by the condition have no associated signs and symptoms while others experience symptoms of androgen (male hormone) excess. Women with NCAH are generally born with normal female genitalia. Later in life, signs and symptoms of the condition can vary but may include hirsutism, frontal baldness, delayed menarche (first period), menstrual irregularities, and infertility. Little has been published about males with NCAH. They may have early beard growth and relatively small testes. Typically, they have normal sperm counts. NCAH is caused by changes (mutations) in the CYP21A2 gene and is inherited in an autosomal recessive manner. Treatment is only necessary in people who are symptomatic and may include a glucocorticoid called dexamethasone.
Question: How to diagnose Mandibulofacial dysostosis with microcephaly ?

Answer: Is genetic testing available for mandibulofacial dysostosis with microcephaly? Yes. Genetic testing is available for mandibulofacial dysostosis with microcephaly (MFDM) and confirms the diagnosis in virtually all people suspected of having MFDM. There are two approaches to genetic testing for this condition. One is sequence analysis of the EFTUD2 gene to identify a mutation (which detects ~91% of affected people), and the other is deletion analysis (which detects ~9%), for people in whom sequencing does not detect a mutation. When a diagnosis of MFDM is strongly suspected but genetic testing is inconclusive, a clinical diagnosis may still be appropriate. However, given the high sensitivity of genetic testing for this condition, other disorders with overlapping features should first be carefully considered. The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. 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.
Question: What are the treatments for Epidermolysis bullosa ?

Answer: How might infections in individuals with epidermolysis bullosa be treated? The chance of contracting a skin infection can be reduced by good nutrition, which builds the bodys defenses and promotes healing, and by careful skin care with clean hands and use of sterile materials. For added protection, a doctor may recommend antibiotic ointments and soaks. However, even in the presence of good care, it is possible for infection to develop. Signs of infection are redness and heat around an open area of skin, pus or a yellow drainage, excessive crusting on the wound surface, a red line or streak under the skin that spreads away from the blistered area, a wound that does not heal, and/or fever or chills. A doctor may prescribe a specific soaking solution, an antibiotic ointment, or an oral antibiotic to reduce the growth of bacteria. Wounds that are not healing may be treated by a special wound covering or biologically developed skin. More details about treatment, wound care and infection control can be obtained from the eMedicine and DEBRA web sites.
Question: Is Punctate palmoplantar keratoderma type I inherited ?

Answer: How is punctate palmoplantar keratoderma type I inherited? Punctate palmoplantar keratoderma type I is usually inherited in an autosomal dominant manner. Autosomal dominant inheritance is when only one mutated copy of a disease-causing gene in each cell is sufficient for a person to be affected. An autosomal dominant condition may occur for the first time in an affected individual due to a new mutation, or may be inherited from an affected parent. When a person with an autosomal dominant disorder has a child, there is a 50% chance that his/her child will inherit the condition. Keratosis palmoplantaris papulosa shows age dependent penetrance and possibly variable penetrance as well. Age dependant penetrance means that the older the person is, the more likely they are to develop symptoms if they have inherited the disease causing gene mutation. Variable penetrance means that not everyone who inherits the gene mutation that causes keratosis palmoplantaris papulosa develops the signs and symptoms of the condition. However this person would still be at risk of passing the disease-causing mutation to their offspring.
Question: What are the genetic changes related to Sotos syndrome ?

Answer: Mutations in the NSD1 gene are the primary cause of Sotos syndrome, accounting for up to 90 percent of cases. Other genetic causes of this condition have not been identified.  The NSD1 gene provides instructions for making a protein that functions as a histone methyltransferase. Histone methyltransferases are enzymes that modify structural proteins called histones, which attach (bind) to DNA and give chromosomes their shape. By adding a molecule called a methyl group to histones (a process called methylation), histone methyltransferases regulate the activity of certain genes and can turn them on and off as needed. The NSD1 protein controls the activity of genes involved in normal growth and development, although most of these genes have not been identified.  Genetic changes involving the NSD1 gene prevent one copy of the gene from producing any functional protein. Research suggests that a reduced amount of NSD1 protein disrupts the normal activity of genes involved in growth and development. However, it remains unclear exactly how a shortage of this protein during development leads to overgrowth, learning disabilities, and the other features of Sotos syndrome.
Question: What are the treatments for Ehlers-Danlos syndrome ?

Answer: These resources address the diagnosis or management of Ehlers-Danlos syndrome:  - Gene Review: Gene Review: Ehlers-Danlos Syndrome, Classic Type  - Gene Review: Gene Review: Ehlers-Danlos Syndrome, Hypermobility Type  - Gene Review: Gene Review: Ehlers-Danlos Syndrome, Kyphoscoliotic Form  - Gene Review: Gene Review: Vascular Ehlers-Danlos Syndrome  - Genetic Testing Registry: Ehlers-Danlos syndrome  - Genetic Testing Registry: Ehlers-Danlos syndrome, musculocontractural type 2  - Genetic Testing Registry: Ehlers-Danlos syndrome, progeroid type, 2  - Genetic Testing Registry: Ehlers-Danlos syndrome, type 7A  - MedlinePlus Encyclopedia: Ehlers-Danlos Syndrome   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