umarjan11/Medical-qna huggingface dataset:
Question: what research (or clinical trials) is being done for Menkes Disease ?

Answer: Recent research sponsored by the NINDS developed a blood test that could be given to newborns at risk for Menkes disease based on a positive family history for the disorder or other indications. The test measures 4 different chemicals in the blood and, depending upon their levels, can accurately diagnose the presence of Menkes disease before symptoms appear. Study results showed higher survival rates for children given the earliest copper injection treatment and improved, if not normal, 2. Additional research is being performed by the Eunice Kennedy Shriver National Institute of Child Health and Human Development, in collaboration with the NINDS, that applies gene therapy approaches to Menkes disease.3
                

                
1. Kaler, SG. The neurology of STPAT copper transporter disease: emerging concepts and future trends. Nature Reviews Neurology, 2001:7:15-19..
                
2. Kaler SG, et al.Neonatal Diagnosis and Treatment of Menkes Disease. N Engl J Med 2008;358:605-14.
                
3. Donsante, A. et. al. ATPTA gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse model. Molecular Therapy (in press as of August 2011).
Question: What is (are) Repetitive Motion Disorders ?

Answer: Repetitive motion disorders (RMDs) are a family of muscular conditions that result from repeated motions performed in the course of normal work or daily activities. RMDs include carpal tunnel syndrome, bursitis, tendonitis, epicondylitis, ganglion cyst, tenosynovitis, and trigger finger. RMDs are caused by too many uninterrupted repetitions of an activity or motion, unnatural or awkward motions such as twisting the arm or wrist, overexertion, incorrect posture, or muscle fatigue. RMDs occur most commonly in the hands, wrists, elbows, and shoulders, but can also happen in the neck, back, hips, knees, feet, legs, and ankles. The disorders are characterized by pain, tingling, numbness, visible swelling or redness of the affected area, and the loss of flexibility and strength. For some individuals, there may be no visible sign of injury, although they may find it hard to perform easy tasks Over time, RMDs can cause temporary or permanent damage to the soft tissues in the body -- such as the muscles, nerves, tendons, and ligaments - and compression of nerves or tissue. Generally, RMDs affect individuals who perform repetitive tasks such as assembly line work, meatpacking, sewing, playing musical instruments, and computer work. The disorders may also affect individuals who engage in activities such as carpentry, gardening, and tennis.
Question: What are the genetic changes related to desmosterolosis ?

Answer: Desmosterolosis is caused by mutations in the DHCR24 gene. This gene provides instructions for making an enzyme called 24-dehydrocholesterol reductase, which is involved in the production (synthesis) of cholesterol. Cholesterol is a waxy, fat-like substance that can be obtained from foods that come from animals (particularly egg yolks, meat, poultry, fish, and dairy products). It can also be produced in various tissues in the body. For example, the brain cannot access the cholesterol that comes from food, so brain cells must produce their own. Cholesterol is necessary for normal embryonic development and has important functions both before and after birth.  DHCR24 gene mutations lead to the production of 24-dehydrocholesterol reductase with reduced activity. As a result, there is a decrease in cholesterol production. Because the brain relies solely on cellular production for cholesterol, it is most severely affected. Without adequate cholesterol, cell membranes are not formed properly and nerve cells are not protected by myelin, leading to the death of these cells. In addition, a decrease in cholesterol production has more severe effects before birth than during other periods of development because of the rapid increase in cell number that takes place. Disruption of normal cell formation before birth likely accounts for the additional developmental abnormalities of desmosterolosis.
Question: What are the genetic changes related to Christianson syndrome ?

Answer: Christianson syndrome is caused by mutations in the SLC9A6 gene, which provides instructions for making a protein called sodium/hydrogen exchanger 6 (Na+/H+ exchanger 6 or NHE6). The NHE6 protein is found in the membrane surrounding endosomes, which are compartments within cells that recycle proteins and other materials. The NHE6 protein acts as a channel to exchange positively charged atoms (ions) of sodium (Na+) with hydrogen ions (H+). By controlling the amount of hydrogen ions, the NHE6 protein helps regulate the relative acidity (pH) inside endosomes, which is important for the recycling function of these compartments. The NHE6 protein may have additional functions, such as helping to move proteins to the correct location in the cell (protein trafficking).  Mutations in the SLC9A6 gene typically lead to an abnormally short NHE6 protein that is nonfunctional or that is broken down quickly in cells, resulting in the absence of functional NHE6 channels. As a result, the pH in endosomes is not properly maintained. It is unclear how unregulated endosomal pH leads to neurological problems in people with Christianson syndrome. Some studies have shown that protein trafficking by endosomes is important for learning and memory, but the role of endosomal pH or the NHE6 protein in this process has not been identified.
Question: What is (are) Kniest dysplasia ?

Answer: Kniest dysplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities and problems with vision and hearing.  People with Kniest dysplasia are born with a short trunk and shortened arms and legs. Adult height ranges from 42 inches to 58 inches. Affected individuals have abnormally large joints that can cause pain and restrict movement, limiting physical activity. These joint problems can also lead to arthritis. Other skeletal features may include a rounded upper back that also curves to the side (kyphoscoliosis), severely flattened bones of the spine (platyspondyly), dumbbell-shaped bones in the arms and legs, long and knobby fingers, and an inward- and upward-turning foot (clubfoot).  Individuals with Kniest dysplasia have a round, flat face with bulging and wide-set eyes. Some affected infants are born with an opening in the roof of the mouth called a cleft palate. Infants may also have breathing problems due to weakness of the windpipe. Severe nearsightedness (myopia) and other eye problems are common in Kniest dysplasia. Some eye problems, such as tearing of the back lining of the eye (retinal detachment), can lead to blindness. Hearing loss resulting from recurrent ear infections is also possible.
Question: What are the genetic changes related to CHMP2B-related frontotemporal dementia ?

Answer: CHMP2B-related frontotemporal dementia results from mutations in the CHMP2B gene. This gene provides instructions for making a protein called charged multivesicular body protein 2B. This protein is active in the brain, where it plays an essential role in transporting proteins that need to be broken down (degraded).  Mutations in the CHMP2B gene lead to the production of an abnormal version of charged multivesicular body protein 2B. Most of the mutations that cause CHMP2B-related frontotemporal dementia result in the production of an abnormal protein that is missing a critical segment at one end. This segment keeps the protein turned off (inactive) when it is not needed. Without this segment, the protein is constantly turned on (active), which disrupts the transport and degradation of other proteins. These abnormalities ultimately lead to the death of nerve cells (neurons) in the brain.  A gradual loss of neurons throughout the brain is characteristic of CHMP2B-related frontotemporal dementia. Many of the features of this disease result from neuronal death in regions near the front of the brain called the frontal and temporal lobes. The frontal lobes are involved in reasoning, planning, judgment, and problem-solving, while the temporal lobes help process hearing, speech, memory, and emotion. It is unclear why the signs and symptoms of this disease are related primarily to the frontal and temporal lobes.
Question: What is (are) Financial Help for Diabetes Care ?

Answer: Medicaid is a state health insurance program for those with low incomes and few assets. Each state runs its own program. The Federal Government requires that Medicaid programs cover a specific set of services; however, states can choose to cover more services in addition to the ones required. A person may have Medicaid alone or Medicare and Medicaid. If a person has both types of coverage, Medicare pays first and Medicaid pays second. Medicaid may pay for things Medicare does not. A person can apply for Medicaid at a city or county department of social services office. The state medical assistance (Medicaid) office can help people find out whether they qualify for Medicaid and can provide more information about Medicaid programs. A social worker can also explain a states Medicaid program and help a person apply.
                
To contact a state Medicaid office, people can
                
- search for Medicaid information for a state at www.medicaid.gov or call 18772672323  - search online or check the government pages of the phone book for the local department of human services or department of social services
                
CHIP gives free or low-cost Medicaid to children whose parents earn too much for Medicaid, though not enough to pay for a health plan. CHIP may also provide assistance to parents. CHIP is a federal and state program. Read more at www.insurekidsnow.gov or call 18775437669.
Question: How to diagnose Indigestion ?

Answer: To diagnose indigestion, the doctor asks about the person's current symptoms and medical history and performs a physical examination. The doctor may order x rays of the stomach and small intestine.
                
The doctor may perform blood, breath, or stool tests if the type of bacteria that causes peptic ulcer disease is suspected as the cause of indigestion.
                
The doctor may perform an upper endoscopy. After giving a sedative to help the person become drowsy, the doctor passes an endoscopea long, thin tube that has a light and small camera on the endthrough the mouth and gently guides it down the esophagus into the stomach. The doctor can look at the esophagus and stomach with the endoscope to check for any abnormalities. The doctor may perform biopsiesremoving small pieces of tissue for examination with a microscopeto look for possible damage from GERD or an infection.
                
Because indigestion can be a sign of a more serious condition, people should see a doctor right away if they experience
                
- frequent vomiting  - blood in vomit  - weight loss or loss of appetite  - black tarry stools  - difficult or painful swallowing  - abdominal pain in a nonepigastric area  - indigestion accompanied by shortness of breath, sweating, or pain that radiates to the jaw, neck, or arm  - symptoms that persist for more than 2 weeks
Question: What are the complications of Perineal Injury in Males ?

Answer: Injury to the blood vessels, nerves, and muscles in the perineum can lead to complications such as
                
- bladder control problems  - sexual problems
                
Bladder control problems. The nerves in the perineum carry signals from the bladder to the spinal cord and brain, telling the brain when the bladder is full. Those same nerves carry signals from the brain to the bladder and pelvic floor muscles, directing those muscles to hold or release urine. Injury to those nerves can block or interfere with the signals, causing the bladder to squeeze at the wrong time or not to squeeze at all. Damage to the pelvic floor muscles can cause bladder and bowel control problems.
                
Sexual problems. The perineal nerves also carry signals between the genitals and the brain. Injury to those nerves can interfere with the sensations of sexual contact.
                
Signals from the brain direct the smooth muscles in the genitals to relax, causing greater blood flow into the penis. In men, damaged blood vessels can cause erectile dysfunction (ED), the inability to achieve or maintain an erection firm enough for sexual intercourse. An internal portion of the penis runs through the perineum and contains a section of the urethra. As a result, damage to the perineum may also injure the penis and urethra.
Question: What to do for What I need to know about Hepatitis C ?

Answer: - Hepatitis C is a virus, or infection, that causes inflammation of the liver.  - Anyone can get hepatitis C, but some people are more likely to than others.  - You could get hepatitis C through contact with an infected persons blood.  - Most people do not have any symptoms until the hepatitis C virus causes liver damage, which can take 10 or more years to happen.  - See a doctor right away if you or a child in your care has symptoms of hepatitis C.  - Acute hepatitis C is a short-term infection with the hepatitis C virus.  - Chronic hepatitis C is a long-lasting infection with the hepatitis C virus. Chronic hepatitis C occurs when the body cant get rid of the hepatitis C virus.  - A blood test will show if you have hepatitis C.  - If you are at higher risk of getting hepatitis C, get tested. Many people with hepatitis C do not know they are infected.  - Hepatitis C usually is not treated unless it becomes chronic. Chronic hepatitis C is treated with medicines that slow or stop the virus from damaging the liver.  - Tell your doctor and your dentist if you have hepatitis C.  - See your doctor right away if you think you have been in contact with the hepatitis C virus. Early diagnosis and treatment of chronic hepatitis C can help prevent liver damage.
Question: What are the treatments for National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report) ?

Answer: Before scientists learned how to make synthetic hormones, many animal hormones, such as insulin, were used to treat human disorders. Growth hormone from animals did not work in humans. Human growth hormone (pituitary hGH) was therefore made from human pituitary glands by the National Hormone and Pituitary Program (NHPP), funded by the U.S. Department of Health and Human Services (HHS). From 1963 to 1985, the NHPP sent pituitary hGH to hundreds of doctors across the country. As a part of research studies, doctors used the hormone to treat nearly 7,700 children for failure to grow.
                
In 1985, the HHS learned that three young men treated with pituitary hGH died of Creutzfeldt-Jakob disease (CJD), a rare and incurable brain disease. The HHS believed these illnesses were related to pituitary hGH. The HHS immediately stopped the distribution of the hormone and began a national study to learn more about how pituitary hGH treatment may have caused this problem. The HHS continues to monitor individuals who received pituitary hGH through the NHPP for CJD.
Question: What to do for Medullary Sponge Kidney ?

Answer: The following changes in diet may help prevent UTIs and kidney stone formation:
                
- Drinking plenty of water and other liquids can help flush bacteria from the urinary tract and dilute urine so kidney stones cannot form. A person should drink enough liquid to produce about 2 to 2.5 quarts of urine every day.3  - Reducing sodium intake, mostly from salt, may help prevent kidney stones. Diets high in sodium can increase the excretion of calcium into the urine and thus increase the chance of calciumcontaining kidney stones forming.  - Foods rich in animal proteins such as meat, eggs, and fish can increase the chance of uric acid stones and calcium stones forming. People who form stones should limit their meat consumption to 6 to 8 ounces a day.4  - People who are more likely to develop calcium oxalate stones should include 1,000 milligrams of calcium in their diet every day. Adults older than 50 years should consume 1,200 milligrams of calcium daily.3 Calcium in the digestive tract binds to oxalate from food and keeps it from entering the blood and the urinary tract, where it can form stones.
                
People with medullary sponge kidney should talk with their health care provider or a dietitian before making any dietary changes. A dietitian can help a person plan healthy meals.
Question: What causes Cyclic Vomiting Syndrome ?

Answer: The cause of cyclic vomiting syndrome is unknown. However, some experts believe that some possible problems with bodily functions may contribute to the cause, such as the following:
                
- gastrointestinal motilitythe way food moves through the digestive system  - central nervous system functionincludes the brain, spinal cord, and nerves that control bodily responses  - autonomic nervous system functionnerves that control internal organs such as the heart  - hormone imbalanceshormones are a chemical produced in one part of the body and released into the blood to trigger or regulate particular bodily functions  - in children, an abnormal inherited gene may also contribute to the condition
                
Specific conditions or events may trigger an episode of cyclic vomiting:
                
- emotional stress, anxiety, or panic attacksfor example, in children, common triggers of anticipatory anxiety are school exams or events, birthday parties, holidays, family conflicts, or travel  - infections, such as a sinus infection, a respiratory infection, or the flu  - eating certain foods, such as chocolate or cheese, or additives such as caffeine, nitritescommonly found in cured meats such as hot dogsand monosodium glutamate, also called MSG  - hot weather  - menstrual periods  - motion sickness  - overeating, fasting, or eating right before bedtime  - physical exhaustion or too much exercise
Question: What is (are) Prostate Cancer ?

Answer: Key Points
                    - Prostate cancer is a disease in which malignant (cancer) cells form in the tissues of the prostate.    - Prostate cancer is the most common nonskin cancer among men in the United States.    - Different factors increase or decrease the risk of developing prostate cancer.
                
                
                    Prostate cancer is a disease in which malignant (cancer) cells form in the tissues of the prostate.
                    The prostate is a gland in the male reproductive system located just below the bladder (the organ that collects and empties urine) and in front of the rectum (the lower part of the intestine). It is about the size of a walnut and surrounds part of the urethra (the tube that empties urine from the bladder). The prostate gland produces fluid that makes up part of semen.      As men age, the prostate may get bigger. A bigger prostate may block the flow of urine from the bladder and cause problems with sexual function. This condition is called benign prostatic hyperplasia (BPH), and although it is not cancer, surgery may be needed to correct it. The symptoms of benign prostatic hyperplasia or of other problems in the prostate may be similar to symptoms of prostate cancer.      See the following PDQ summaries for more information about prostate cancer:         -   Prostate Cancer Prevention     -  Prostate Cancer Treatment
Question: Is Russell-Silver syndrome inherited ?

Answer: Is Russell-Silver syndrome inherited? Most cases of Russell-Silver syndrome (RSS) are sporadic (not inherited), which means they occur in people with no family history of RSS. Less commonly, Russell-Silver syndrome is inherited. In some families, it appears to be inherited in an autosomal dominant manner. This means that having one "copy" of a genetic change in each cell is enough to cause the disorder. In some cases, an affected person inherits the genetic change from a parent. In other cases, the change occurs for the first time in an affected person. When a person with a genetic change that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the genetic change. In other families, the condition is inherited in an autosomal recessive manner. This means that to be affected, a person must have a change in both copies of the responsible gene in each cell. Affected people inherit one copy from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a: 25% (1 in 4) chance to be affected 50% (1 in 2) chance to be an unaffected carrier like each parent 25% chance to be unaffected and not be a carrier
Question: How to diagnose Hypokalemic periodic paralysis ?

Answer: How is hypokalemic periodic paralysis diagnosed? The diagnosis of hypokalemic periodic paralysis is based on a history of episodes of paralysis and low levels of potassium in the blood during attacks (less than 0.9 to 3.0 mmol/L), but not between attacks. An important part of the diagnosis is to rule out other potential causes, including myotonia, hyperthyroidism, and arrhythmia. Affected individuals typically have a family history consistent with autosomal dominant inheritance. Genetic testing is available for hypokalemic periodic paralysis. Of all individuals meeting diagnostic criteria for this condition, approximately 55 to 70 percent have mutations in the CACNA1S gene, and approximately 8 to 10 percent have mutations in the SCN4A gene. GeneTests lists the names of laboratories that perform clinical genetic testing of the CACNA1S and SCN4A genes for hypokalemic periodic paralysis. When a disease-causing mutation is identified in an affected individual, genetic testing can be performed for at-risk, asymptomatic family members. Please note:  Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.  See below for a list of online resources that can assist you in locating a genetics professional near you.
Question: What is (are) Pulmonary arterial hypertension ?

Answer: Pulmonary arterial hypertension (PAH) is a progressive condition that affects the heart and lungs. It is characterized by abnormally high blood pressure (hypertension) in the pulmonary artery, the blood vessel that carries blood from the heart to the lungs. The most common signs and symptoms are shortness of breath (dyspnea) during exertion and fainting spells. As the condition worsens, people can experience dizziness, swelling (edema) of the ankles or legs, chest pain, and a racing pulse. Most cases of PAH occur in individuals with no family history of the disorder. Although some cases are due to mutations in the BMPR2 gene and inherited in an autosomal dominant pattern, a gene mutation has not yet been identified in most individuals. When PAH is inherited from an affected relative it is called "familial" PAH. Cases with no identifiable cause may be referred to as "idiopathic" PAH. PAH can also occur secondary to an underlying disorder such as connective tissue diseases, HIV infection, chronic hemolytic anemia, and congenital heart disease, to name a few. PAH can also be induced by certain drugs and toxins, for example fenfluramine and dexfenfluramine (appetite suppressants now banned by the FDA), toxic rapeseed oil, and amphetamines.