umarjan11/Medical-qna huggingface dataset:
Question: Is Nager syndrome inherited ?

Answer: Most cases of Nager syndrome are sporadic, which means that they occur in people with no history of the disorder in their family. Less commonly, this condition has been found to run in families. When the disorder is familial, it can have an autosomal dominant or an autosomal recessive pattern of inheritance.  Autosomal dominant inheritance means one copy of an altered gene in each cell is sufficient to cause the disorder, although no genes have been associated with Nager syndrome. In autosomal dominant Nager syndrome, an affected person usually inherits the condition from one affected parent.  Autosomal recessive inheritance means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of a mutated gene, but they typically do not show signs and symptoms of the condition. Nager syndrome is thought to have an autosomal recessive inheritance pattern when unaffected parents have more than one affected child.  The underlying genetic cause may differ among unrelated individuals with Nager syndrome, even among those with the same pattern of inheritance.
Question: What are the genetic changes related to tetrahydrobiopterin deficiency ?

Answer: Tetrahydrobiopterin deficiency can be caused by mutations in one of several genes, including GCH1, PCBD1, PTS, and QDPR. These genes provide instructions for making enzymes that help produce and recycle tetrahydrobiopterin in the body. Tetrahydrobiopterin normally helps process several amino acids, including phenylalanine. It is also involved in the production of neurotransmitters.  If one of the enzymes fails to function correctly because of a gene mutation, little or no tetrahydrobiopterin is available to help process phenylalanine. As a result, phenylalanine can build up in the blood and other tissues. Because nerve cells in the brain are particularly sensitive to phenylalanine levels, excessive amounts of this substance can cause brain damage. Tetrahydrobiopterin deficiency can also alter the levels of certain neurotransmitters, which disrupts normal brain function. These abnormalities underlie the intellectual disability and other characteristic features of the condition.
Question: Is 1p36 deletion syndrome inherited ?

Answer: Most cases of 1p36 deletion syndrome are not inherited. They result from a chromosomal deletion that occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family.  About 20 percent of people with 1p36 deletion syndrome inherit the chromosome with a deleted segment from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which no genetic material is gained or lost. Balanced translocations usually do not cause any health problems; however, they can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Individuals with 1p36 deletion syndrome who inherit an unbalanced translocation are missing genetic material from the short arm of chromosome 1, which results in birth defects and other health problems characteristic of this disorder.
Question: What are the genetic changes related to severe congenital neutropenia ?

Answer: Severe congenital neutropenia can result from mutations in at least five different genes. These genes play a role in the maturation and function of neutrophils, which are cells produced by the bone marrow. Neutrophils secrete immune molecules and ingest and break down foreign invaders.  Gene mutations that cause severe congenital neutropenia lead to the production of neutrophils that die off quickly or do not function properly. Some gene mutations result in unstable proteins that build up in neutrophils, leading to cell death. Other gene mutations result in proteins that impair the maturation or function of neutrophils, preventing these cells from responding appropriately to immune signals.  About half of all cases of severe congenital neutropenia are caused by mutations in the ELANE gene. Another 15 percent are caused by mutations in the HAX1 gene. The other genes each account for only a small percentage of all cases of this condition. In about one-third of people with severe congenital neutropenia, the cause of the disorder is unknown.
Question: What is (are) Bjrnstad syndrome ?

Answer: Bjrnstad syndrome is a rare disorder characterized by abnormal hair and hearing problems. Affected individuals have a condition known as pili torti, which means "twisted hair," so named because the strands appear twisted when viewed under a microscope. The hair is brittle and breaks easily, leading to short hair that grows slowly. In Bjrnstad syndrome, pili torti usually affects only the hair on the head; eyebrows, eyelashes, and hair on other parts of the body are normal. The proportion of hairs affected and the severity of brittleness and breakage can vary. This hair abnormality commonly begins before the age of 2. It may become milder with age, particularly after puberty.  People with Bjrnstad syndrome also have hearing problems that become evident in early childhood. The hearing loss, which is caused by changes in the inner ear (sensorineural deafness), can range from mild to severe. Mildly affected individuals may be unable to hear sounds at certain frequencies, while severely affected individuals may not be able to hear at all.
Question: What are the genetic changes related to Jacobsen syndrome ?

Answer: Jacobsen syndrome is caused by a deletion of genetic material at the end of the long (q) arm of chromosome 11. The size of the deletion varies among affected individuals, with most affected people missing 5 million to 16 million DNA building blocks (also written as 5 Mb to 16 Mb). In almost all affected people, the deletion includes the tip of chromosome 11. Larger deletions tend to cause more severe signs and symptoms than smaller deletions.  The features of Jacobsen syndrome are likely related to the loss of multiple genes on chromosome 11. Depending on its size, the deleted region can contain from about 170 to more than 340 genes. Many of these genes have not been well characterized. However, genes in this region appear to be critical for the normal development of many parts of the body, including the brain, facial features, and heart. Only a few genes have been studied as possible contributors to the specific features of Jacobsen syndrome; researchers are working to determine which additional genes may be associated with this condition.
Question: What is (are) Acquired Cystic Kidney Disease ?

Answer: Acquired cystic kidney disease differs from PKD in several ways. Unlike acquired cystic kidney disease, PKD is a genetic, or inherited, disorder that can cause complications such as high blood pressure and problems with blood vessels in the brain and heart.
                
The following chart lists the differences:
                
People with Polycystic Kidney Disease   - are born with a gene that causes the disease   - have enlarged kidneys   - develop cysts in the liver and other parts of the body   People with Acquired Cystic Kidney Disease   - do not have a disease-causing gene   - have kidneys that are normal-sized or smaller   - do not form cysts in other parts of the body
                
In addition, for people with PKD, the presence of cysts marks the onset of their disease, while people with acquired cystic kidney disease already have CKD when they develop cysts.
                
More information is provided in the NIDDK health topic, Polycystic Kidney Disease.
Question: How to diagnose What I need to know about Gestational Diabetes ?

Answer: Doctors use blood tests to diagnose gestational diabetes. All diabetes blood tests involve drawing blood at a doctor's office or a commercial facility. Blood samples are sent to a lab for analysis.
                

                
Screening Glucose Challenge Test
                
For this test, you will drink a sugary beverage and have your blood glucose level checked an hour later. This test can be done at any time of the day. If the results are above normal, you may need to have an oral glucose tolerance test.
                
Oral Glucose Tolerance Test
                
You will need to fast for at least 8 hours before the test. Fasting means having nothing to eat or drink except water. Your doctor will give you other instructions to follow before the test.
                
Your fasting blood glucose level will be checked before the test begins. Then you will drink a sugary beverage. Your blood glucose levels will be checked 1 hour, 2 hours, and possibly 3 hours later. Your doctor will use your test results to find out whether you have gestational diabetes.
Question: What to do for Pregnancy and Thyroid Disease ?

Answer: - Thyroid disease is a disorder that results when the thyroid gland produces more or less thyroid hormone than the body needs.  - Pregnancy causes normal changes in thyroid function but can also lead to thyroid disease.  - Uncontrolled hyperthyroidism during pregnancy can lead to serious health problems in the mother and the unborn baby.  - During pregnancy, mild hyperthyroidism does not require treatment. More severe hyperthyroidism is treated with antithyroid medications, which act by interfering with thyroid hormone production.  - Uncontrolled hypothyroidism during pregnancy can lead to serious health problems in the mother and can affect the unborn babys growth and brain development.  - Hypothyroidism during pregnancy is treated with synthetic thyroid hormone, thyroxine (T4).  - Postpartum thyroiditisinflammation of the thyroid glandcauses a brief period of hyperthyroidism, often followed by hypothyroidism that usually goes away within a year. Sometimes the hypothyroidism is permanent.
Question: What are the treatments for Osteoarthritis ?

Answer: For many people, surgery helps relieve the pain and disability of osteoarthritis. Surgery may be performed to achieve one or more of the following. - Removal of loose pieces of bone and cartilage from the joint if they are causing symptoms of buckling or locking (arthroscopic debridement).  - Repositioning of bones (osteotomy).  - Resurfacing (smoothing out) bones (joint resurfacing). Removal of loose pieces of bone and cartilage from the joint if they are causing symptoms of buckling or locking (arthroscopic debridement). Repositioning of bones (osteotomy). Resurfacing (smoothing out) bones (joint resurfacing). The decision to use surgery depends on several factors, including the patients age, occupation, level of disability, pain intensity, and the degree to which arthritis interferes with his or her lifestyle. After surgery and rehabilitation, the patient usually feels less pain and swelling and can move more easily.
Question: What is (are) Hiatal Hernia ?

Answer: A hiatal hernia is a condition in which the upper part of the stomach bulges through an opening in the diaphragm. The diaphragm is the muscle wall that separates the stomach from the chest. The diaphragm helps keep acid from coming up into the esophagus. When you have a hiatal hernia, it's easier for the acid to come up. The leaking of acid from the stomach into the esophagus is called gastroesophageal reflux disease (GERD). GERD may cause symptoms such as        - Heartburn    - Problems swallowing    - A dry cough    - Bad breath       Hiatal hernias are common, especially in people over age 50. If you have symptoms, eating small meals, avoiding certain foods, not smoking or drinking alcohol, and losing weight may help. Your doctor may recommend antacids or other medicines. If these don't help, you may need surgery.    NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Question: What is (are) Spina Bifida ?

Answer: Spina bifida is a neural tube defect - a type of birth defect of the brain, spine, or spinal cord. It happens if the spinal column of the fetus doesn't close completely during the first month of pregnancy. This can damage the nerves and spinal cord. Screening tests during pregnancy can check for spina bifida. Sometimes it is discovered only after the baby is born.    The symptoms of spina bifida vary from person to person. Most people with spina bifida are of normal intelligence. Some people need assistive devices such as braces, crutches, or wheelchairs. They may have learning difficulties, urinary and bowel problems, or hydrocephalus, a buildup of fluid in the brain.    The exact cause of spina bifida is unknown. It seems to run in families. Taking folic acid can reduce the risk of having a baby with spina bifida. It's in most multivitamins. Women who could become pregnant should take it daily.    NIH: National Institute of Neurological Disorders and Stroke
Question: What is (are) Phenylketonuria ?

Answer: Phenylketonuria (PKU) is a genetic disorder in which the body can't process part of a protein called phenylalanine (Phe). Phe is in almost all foods. If the Phe level gets too high, it can damage the brain and cause severe intellectual disability. All babies born in U.S. hospitals must now have a screening test for PKU. This makes it easier to diagnose and treat the problem early.     The best treatment for PKU is a diet of low-protein foods. There are special formulas for newborns. For older children and adults, the diet includes many fruits and vegetables. It also includes some low-protein breads, pastas and cereals. Nutritional formulas provide the vitamins and minerals they can't get from their food.    Babies who get on this special diet soon after they are born develop normally. Many have no symptoms of PKU. It is important that they stay on the diet for the rest of their lives.    NIH: National Institute of Child Health and Human Development
Question: Do you have information about Hip Replacement

Answer: Summary : Hip replacement is surgery for people with severe hip damage. The most common cause of damage is osteoarthritis. Osteoarthritis causes pain, swelling, and reduced motion in your joints. It can interfere with your daily activities. If other treatments such as physical therapy, pain medicines, and exercise haven't helped, hip replacement surgery might be an option for you.    During a hip replacement operation, the surgeon removes damaged cartilage and bone from your hip joint and replaces them with new, man-made parts.    A hip replacement can       - Relieve pain    - Help your hip joint work better    - Improve walking and other movements       The most common problem after surgery is hip dislocation. Because a man-made hip is smaller than the original joint, the ball can come out of its socket. The surgery can also cause blood clots and infections. With a hip replacement, you might need to avoid certain activities, such as jogging and high-impact sports.    NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
Question: What is (are) Neuromuscular Disorders ?

Answer: Neuromuscular disorders affect the nerves that control your voluntary muscles. Voluntary muscles are the ones you can control, like in your arms and legs. Your nerve cells, also called neurons, send the messages that control these muscles. When the neurons become unhealthy or die, communication between your nervous system and muscles breaks down. As a result, your muscles weaken and waste away. The weakness can lead to twitching, cramps, aches and pains, and joint and movement problems. Sometimes it also affects heart function and your ability to breathe.     Examples of neuromuscular disorders include       - Amyotrophic lateral sclerosis    - Multiple sclerosis    - Myasthenia gravis    - Spinal muscular atrophy        Many neuromuscular diseases are genetic, which means they run in families or there is a mutation in your genes. Sometimes, an immune system disorder can cause them. Most of them have no cure. The goal of treatment is to improve symptoms, increase mobility and lengthen life.
Question: What is (are) Charcot-Marie-Tooth Disease ?

Answer: Charcot-Marie-Tooth disease (CMT) is a group of genetic nerve disorders. It is named after the three doctors who first identified it. In the United States, CMT affects about 1 in 2,500 people.     CMT affects your peripheral nerves. Peripheral nerves carry movement and sensation signals between the brain and spinal cord and the rest of the body. Symptoms usually start around the teen years. Foot problems such as high arches or hammertoes can be early symptoms. As CMT progresses, your lower legs may weaken. Later, your hands may also become weak.     Doctors diagnose CMT by doing a neurologic exam, nerve tests, genetic tests, or a nerve biopsy. There is no cure. The disease can be so mild you don't realize you have it or severe enough to make you weak. Physical therapy, occupational therapy, braces and other devices and sometimes surgery can help.    NIH: National Institute of Neurological Disorders and Stroke
Question: What is (are) Cleidocranial dysplasia ?

Answer: Cleidocranial dysplasia is a condition that primarily affects the development of the bones and teeth. Characteristic features of this condition include underdeveloped or absent collarbones (clavicles) and delayed closing of the spaces between the bones of the skull (fontanels). Individuals with cleidocranial dysplasia may also have decreased bone density (osteopenia), osteoporosis, dental abnormalities, hearing loss, and recurrent sinus and ear infections. Mutations in the RUNX2 gene cause most cases of cleidocranial dysplasia. This condition is inherited in an autosomal dominant pattern. In some cases, a person inherits cleidocranial dysplasia from a parent who also has the condition. Other cases result from new mutations (de novo mutations) in the RUNX2 gene.  Dental problems are addressed with several procedures. Ear and sinus infections may be treated with antibiotics and use of ear tubes. In some cases surgery is needed for the cranial defect.
Question: What is (are) Cicatricial pemphigoid ?

Answer: Cicatricial pemphigoid is a rare, chronic, blistering and scarring disease that affects the oral and ocular mucosa. Other mucosal sites that might be affected include the nasopharnyx, larynx, genitalia, rectum, and esophagus. The condition usually begins in late adulthood (e.g. 50's or 60's), affects more women than men, and has a variable prognosis. Scarring of the affected  mucosa of the eye may lead to blindness and tends to be the most feared complication. A combination of environmental and genetic factors appear to play a role in the susceptibility of developing cicatricial pemphigoid. Although the specific causes of this condition have not been identified, it is considered an autoimmune disease that is characterized by the production of autoantibodies against basement membrane zone antigens such as BP180, BP230, and laminin 5.  Treatment is dependent on the person's specific symptoms.
Question: What causes Friedreich ataxia ?

Answer: What causes Friedreich ataxia? Friedreich ataxia is caused by mutations in the FXN gene. This gene provides instructions for making a protein called frataxin. One region of the FXN gene contains a segment of DNA known as a GAA trinucleotide repeat. This segment is made up of a series of three DNA building blocks (one guanine and two adenines) that appear multiple times in a row. Normally, this segment is repeated 5 to 33 times within the FXN gene. In people with Friedreich ataxia, the GAA segment is repeated 66 to more than 1,000 times. The length of the GAA trinucleotide repeat appears to be related to the age at which the symptoms of Friedreich ataxia appear. The abnormally long GAA trinucleotide repeat disrupts the production of frataxin, which severely reduces the amount of this protein in cells. Certain nerve and muscle cells cannot function properly with a shortage of frataxin, leading to the characteristic signs and symptoms of Friedreich ataxia.
Question: What are the treatments for Dominant optic atrophy ?

Answer: How might dominant optic atrophy be treated? There is currently no cure for dominant optic atrophy (DOA). Management generally consists of regular eye exams, including measurement of visual acuity, color vision, visual fields and optical coherence tomography (OCT). Currently there is no specific treatment, but low-vision aids in individuals with severely decreased visual acuity can be helpful. A preliminary study published in February 2013 found that several individuals with specific OPA1 mutations who underwent idebenone therapy (which has been used to treat some cases of Leber hereditary optic neuropathy) experienced some improvement of visual function. However, more thorough research is necessary to confirm these findings. Acupuncture is also being studied as a potential treatment. Avoiding tobacco and alcohol intake and certain medications (antibiotics, antivirals), which can interfere with mitochondrial metabolism, may help to slow the progression. Cochlear implants have been shown to markedly improve hearing in individuals with sensorineural hearing loss.
Question: What causes Necrotizing fasciitis ?

Answer: What causes necrotizing fasciitis? Bacteria that can cause necrotizing fasciitis (NF) include the following: Klebsiella, Clostridium, and Escherichia coli; group A Streptococcus is the most common cause. Anyone can develop NF. Approximately 50% of necrotizing fasciitis cases caused by streptococcal bacteria occur in young and otherwise healthy individuals. Although necrotizing fasciitis most frequently develops after trauma that causes a break in the skin, it can also develop after minor trauma that occurs without a break in the skin. NF can occur as a complication of a surgical procedure; it can also occur at the site of a relatively minor injury such as an insect bite or an injection. In addition, underlying illnesses which weaken the immune system may increase the risk that a person will develop NF. Studies have even suggested a possible relationship between the use of nonsteroidal anti-inflammatory medications (NSAIDs) during varicella infections and the development of necrotizing fasciitis.
Question: What are the treatments for Shingles ?

Answer: The severity and duration of an attack of shingles can be significantly reduced by immediate treatment with antiviral drugs, which include acyclovir, valcyclovir, or famcyclovir. Antiviral drugs may also help stave off the painful after-effects of shingles known as postherpetic neuralgia. Other treatments for postherpetic neuralgia include steroids, antidepressants, anticonvulsants (including pregabalin and gabapentin enacarbil), and topical agents. The varicella zoster virus vaccine (Zostavax) has been approved by teh food and Drug Administration for adults age 50 and older. Researchers found that giving older adults the vaccine reduced the expected number of later cases of shingles by half. And in people who still got the disease despite immunization, the severity and complications of shingles were dramatically reduced. The shingles vaccine is a preventive therapy and not a treatment for those who already have shingles or long-lasting nerve pain (postherpetic neuralgia).