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

Answer: Is Tourette syndrome inherited? Evidence from twin and family studies suggests that Tourette syndrome is an inherited disorder. Although early family studies suggested an autosomal dominant mode of inheritance (an autosomal dominant disorder is one in which only one copy of the defective gene, inherited from one parent, is necessary to produce the disorder), more recent studies suggest that the pattern of inheritance is much more complex. Although there may be a few genes with substantial effects, it is also possible that many genes with smaller effects and environmental factors may play a role in the development of Tourette syndrome. Genetic studies also suggest that some forms of ADHD and OCD are genetically related to Tourette syndrome, but there is less evidence for a genetic relationship between Tourette syndrome and other neurobehavioral problems that commonly co-occur with Tourette syndrome. Due to the complex nature of Tourette syndrome inheritance, affected families and those at risk may benefit from consulting with a genetics professional. Information about how to locate a genetics professional is provided in the Living With section.
Question: How to diagnose Barrett esophagus ?

Answer: How is Barrett esophagus diagnosed? Esophagogastroduodenoscopy (EGD) with a biopsy is the procedure of choice for confirming a diagnosis of Barret esophagus. A diagnosis is often made while investigating other conditions such as gastroesophageal reflux disease (GERD). Based on the biopsy, a doctor will be able to determine the severity of the condition, which can help inform treatment decisions. The sample may be classified as: No dysplasia - a diagnosis of Barrett's esophagus is confirmed, but no precancerous changes are found in the cells Low-grade dysplasia - the cells show small signs of precancerous changes High-grade dysplasia - the cells show many precancerous changes. This is thought to be the final step before cells change into esophageal cancer The National Institute of Diabetes and Digestive and Kidney Diseases' (NIDDK) Web site offers more specific information on the diagnosis of Barret esophagus. Please click on the link to access this resource.
Question: What is (are) Multiple epiphyseal dysplasia ?

Answer: Multiple epiphyseal dysplasia (MED) is a group of disorders of cartilage and bone development, primarily affecting the ends of the long bones in the arms and legs (epiphyses). There are two types of MED, which are distinguished by their patterns of inheritance - autosomal dominant and autosomal recessive. Signs and symptoms may include joint pain in the hips and knees; early-onset arthritis; a waddling walk; and mild short stature as adults. Recessive MED may also cause malformations of the hands, feet, and knees; scoliosis; or other abnormalities. Most people are diagnosed during childhood, but mild cases may not be diagnosed until adulthood. Dominant MED is caused by mutations in the COMP, COL9A1, COL9A2, COL9A3, or MATN3 genes (or can be of unknown cause), and recessive MED is caused by mutations in the SLC26A2 gene.
Question: What is (are) Familial exudative vitreoretinopathy ?

Answer: Familial exudative vitreoretinopathy (FEVR) is a hereditary disorder that can cause progressive vision loss. This condition affects the retina, the light-sensitive tissue that lines the back of the eye, by preventing blood vessels from forming at the edges of the retina. This reduces the blood supply to retina. The signs and symptoms include vision loss or blindness, retinal detachment, strabismus, and a visible whiteness (leukocoria) in the normally black pupil. The severity of FEVR varies widely, even within the same family. Many people with this condition do not experience any vision problems.FEVR has different inheritance patterns depending on the gene involved. Most individuals have the autosomal dominant form of this condition, caused by mutations in the FZD4 or LRP5 gene. FEVR caused by LRP5 gene mutations can also have an autosomal recessive inheritance. When this condition is caused by mutations in the NDP gene, it has an X-linked pattern of inheritance.
Question: What is (are) Unverricht-Lundborg disease ?

Answer: Unverricht-Lundborg disease is an inherited form of progressive myoclonus epilepsy that is characterized by episodes of involuntary muscle jerking or twitching (myoclonus) that increase in frequency and severity over time. Episodes of myoclonus may be brought on by physical exertion, stress, light, or other stimuli. Affected individuals usually begin showing signs and symptoms of the disorder between the ages of 6 and 15. Over time, the myoclonic episodes may become severe enough to interfere with walking and other everyday activities. Other features include seizures involving loss of consciousness, muscle rigidity, and convulsions (tonic-clonic or grand mal seizures). Like the myoclonic episodes, these may increase in frequency over several years but may be controlled with treatment. After several years of progression, the frequency of seizures may stabilize or decrease. Unverricht-Lundborg disease is caused by mutation in the CSTB gene. It is inherited in an autosomal recessive pattern.
Question: How to diagnose Dyggve-Melchior-Clausen syndrome ?

Answer: How is Dyggve-Melchior-Clausen syndrome diagnosed? DMC syndrome may be suspected following a thorough clinical evaluation, a detailed patient history, and identification of characteristic findings (e.g., barrel chest, and disproportionate short stature). Radiographs may confirm specific skeletal abnormalities and findings consistent with DMC syndrome. Genetic testing can also confirm a diagnosis. Is genetic testing available for Dyggve-Melchior-Clausen syndrome? GeneTests lists the name of the laboratory that performs clinical genetic testing for Dyggve-Melchior-Clausen syndrome. To view the contact information for this laboratory, click here. 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.  Below, we provide a list of online resources that can assist you in locating a genetics professional near you.
Question: What is (are) Diffuse gastric cancer ?

Answer: Diffuse gastric cancer or signet ring cell cancer is a type of cancer found most often in the glandular cells lining the stomach, but can also develop in the bowel, breast, pancreas, bladder, prostate or lung. The 2010 WHO (World Health Organization) classification recognizes four major histologic patterns of gastric cancers: tubular, papillary, mucinous and poorly cohesive (including signet ring cell carcinoma), plus uncommon histologic variants. The term "signet ring cell" is often used because the cells look like signet rings when viewed under a microscope. The signet cells are a type of epithelial cell. Epithelial tissue is skin tissue, covering and lining the body both inside and out. When diffuse gastric cancer is inherited it is called "hereditary diffuse gastric cancer." Treatment depends on the stage at which the cancer is found and may include chemotherapy, radiation therapy, or operations to remove the stomach (gastrectomy).
Question: What causes Relapsing polychondritis ?

Answer: What causes relapsing polychondritis? The exact underlying cause of relapsing polychondritis (RP) is unknown. However, scientists suspect that it is an autoimmune condition. It it thought that RP occurs when the body's immune system mistakenly attacks its own cartilage and other tissues. In general, autoimmune conditions are complex traits that are associated with the effects of multiple genes in combination with lifestyle and environmental factors. There is also evidence to suggest that some people may be born with a genetic susceptibility to RP. Studies have found that people with RP are roughly twice as likely as those without this condition to carry a certain genetic allele called HLA-DR4. "HLA" stands for human leukocyte antigen, which is an important part of our immune system and plays a role in resistance and predisposition (risk) to disease. However, HLA genes are not solely responsible for specific diseases but instead may simply contribute along with other genetic or environmental factors to disease risk. Thus, many people with HLA-DR4 will never develop RP.
Question: Is Spastic diplegia cerebral palsy inherited ?

Answer: Is spastic diplegia cerebral palsy inherited? Scientists have found that family members of people with cerebral palsy, including spastic diplegia cerebral palsy, have an increased risk of developing the condition. The exact risk depends on the how closely the family members are related: A child with a sibling (brother, sister) or parent with cerebral palsy would have a six- to nine-fold increased risk of developing the condition (actual risk: 1 to 1.5%) A child with a half sibling with cerebral palsy would have up to a three-fold risk of developing the condition (actual risk: less than 1%) A child with a first cousin with cerebral palsy would have a 1.5-fold increased risk of developing the condition (actual risk: less than 1%) This suggests that there may be a genetic component in some cases of cerebral palsy. However, the inheritance is likely multifactorial which means the condition is caused by multiple genes interacting with each other and with environmental factors.
Question: What is (are) Hepatoblastoma ?

Answer: Hepatoblastoma is a rare malignant (cancerous) tumor of the liver that usually occurs in the first 3 years of life. In early stages of the condition, there may be no concerning signs or symptoms. As the tumor gets larger, affected children may experience a painful, abdominal lump; swelling of the abdomen; unexplained weight loss; loss of appetite; and/or nausea and vomiting. The exact underlying cause of hepatoblastoma is poorly understood. Risk factors for the tumor include prematurity with a very low birth weight, early exposure to hepatitis B infection, biliary atresia, and several different genetic conditions (i.e. Beckwith-Wiedemann syndrome, familial adenomatous polyposis, Aicardi syndrome, Glycogen storage disease, and Simpson-Golabi-Behmel syndrome). Treatment varies based on the severity of the condition but may include a combination of surgery, watchful waiting, chemotherapy, and/or radiation therapy.
Question: What is (are) Carpal Tunnel Syndrome ?

Answer: Carpal tunnel syndrome (CTS) occurs when the median nerve, which runs from the forearm into the palm of the hand, becomes pressed or squeezed at the wrist. The carpal tunnel is a narrow, rigid passageway of ligament and bones at the base of the hand that houses the median nerve and the tendons that bend the fingers. The median nerve provides feeling to the palm side of the thumb and to most of the fingers. Symptoms usually start gradually, with numbness, tingling, weakness, and sometimes pain in the hand and wrist. People might have difficulty with tasks such as driving or reading a book. Decreased hand strength may make it difficult to grasp small objects or perform other manual tasks. In some cases no direct cause of the syndrome can be identified. Contributing factors include trauma or injury to the wrist that causes swelling, thyroid disease, rheumatoid arthritis, and fluid retention during pregnancy. Women are three times more likely than men to develop carpal tunnel syndrome. The disorder usually occurs only in adults.
Question: What are the genetic changes related to deoxyguanosine kinase deficiency ?

Answer: The DGUOK gene provides instructions for making the enzyme deoxyguanosine kinase. This enzyme plays a critical role in mitochondria, which are structures within cells that convert the energy from food into a form that cells can use. Mitochondria each contain a small amount of DNA, known as mitochondrial DNA or mtDNA, which is essential for the normal function of these structures. Deoxyguanosine kinase is involved in producing and maintaining the building blocks of mitochondrial DNA.  Mutations in the DGUOK gene reduce or eliminate the activity of the deoxyguanosine kinase enzyme. Reduced enzyme activity leads to problems with the production and maintenance of mitochondrial DNA. A reduction in the amount of mitochondrial DNA (known as mitochondrial DNA depletion) impairs mitochondrial function in many of the body's cells and tissues. These problems lead to the neurological and liver dysfunction associated with deoxyguanosine kinase deficiency.
Question: What are the genetic changes related to eosinophil peroxidase deficiency ?

Answer: Mutations in the EPX gene cause eosinophil peroxidase deficiency. The EPX gene provides instructions for making the eosinophil peroxidase protein. During an immune response, activated eosinophils release eosinophil peroxidase at the site of injury. This protein helps form molecules that are highly toxic to bacteria and parasites. These toxic molecules also play a role in regulating inflammation by fighting microbial invaders.  EPX gene mutations reduce or prevent eosinophil peroxidase production or result in a protein that is unstable and nonfunctional. As a result, eosinophils have severely reduced amounts of eosinophil peroxidase or none at all. Other proteins within affected eosinophils are normal, and while the cells lacking eosinophil peroxidase are smaller and may have structural changes, the loss of eosinophil peroxidase does not appear to impair the function of eosinophils.
Question: Is Kabuki syndrome inherited ?

Answer: When Kabuki syndrome is caused by mutations in the KMT2D gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.  When Kabuki syndrome is caused by mutations in the KDM6A gene, it is inherited in an X-linked dominant pattern. The KDM6A gene is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell is sufficient to cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.  Most cases of Kabuki syndrome result from a new mutation in one of these genes and occur in people with no history of the disorder in their family. In a few cases, an affected person is believed to have inherited the mutation from one affected parent.
Question: What are the genetic changes related to progressive familial heart block ?

Answer: Mutations in the SCN5A and TRPM4 genes cause most cases of progressive familial heart block types IA and IB, respectively. The proteins produced from these genes are channels that allow positively charged atoms (cations) into and out of cells. Both channels are abundant in heart (cardiac) cells and play key roles in these cells' ability to generate and transmit electrical signals. These channels play a major role in signaling the start of each heartbeat, coordinating the contractions of the atria and ventricles, and maintaining a normal heart rhythm.  The SCN5A and TRPM4 gene mutations that cause progressive familial heart block alter the normal function of the channels. As a result of these channel alterations, cardiac cells have difficulty producing and transmitting the electrical signals that are necessary to coordinate normal heartbeats, leading to heart block. Death of these impaired cardiac cells over time can lead to fibrosis, worsening the heart block.  Mutations in other genes, some of which are unknown, account for the remaining cases of progressive familial heart block.
Question: What are the symptoms of Prevent diabetes problems: Keep your kidneys healthy ?

Answer: In the early stages, diabetic kidney disease does not have any symptoms. Kidney disease happens so slowly that you may not feel sick at all for many years. You may not feel sick even when your kidneys do only half the job of healthy kidneys. Only your doctor can tell if you have kidney disease by checking the protein, or albumin, level in your urine at least once a year.
                
The first symptom of diabetic kidney disease is often swelling in parts of your body, such as your hands, face, feet, or ankles. Also, large amounts of protein in your urine may cause urine to look foamy. Once your kidney function starts to decrease, other symptoms may include
                
- increased or decreased urination  - feeling drowsy or tired  - feeling itchy or numb  - dry skin  - headaches  - weight loss  - not feeling hungry  - feeling sick to your stomach  - vomiting  - sleep problems  - trouble staying focused  - darkened skin  - muscle cramps
Question: What is (are) Diabetic Neuropathies: The Nerve Damage of Diabetes ?

Answer: Diabetic neuropathies are a family of nerve disorders caused by diabetes. People with diabetes can, over time, develop nerve damage throughout the body. Some people with nerve damage have no symptoms. Others may have symptoms such as pain, tingling, or numbnessloss of feelingin the hands, arms, feet, and legs. Nerve problems can occur in every organ system, including the digestive tract, heart, and sex organs.
                
About 60 to 70 percent of people with diabetes have some form of neuropathy. People with diabetes can develop nerve problems at any time, but risk rises with age and longer duration of diabetes. The highest rates of neuropathy are among people who have had diabetes for at least 25 years. Diabetic neuropathies also appear to be more common in people who have problems controlling their blood glucose, also called blood sugar, as well as those with high levels of blood fat and blood pressure and those who are overweight.
Question: Do you have information about Pregnancy and Medicines

Answer: Summary : Not all medicines are safe to take when you are pregnant. Some medicines can harm your baby. That includes over-the-counter or prescription drugs, herbs, and supplements.    Always speak with your health care provider before you start or stop any medicine. Not using medicine that you need may be more harmful to you and your baby than using the medicine. For example, many pregnant women take prescription medicines for health problems like diabetes, asthma, seizures, and heartburn. The decision about whether or not to take a medicine depends on the risks and benefits. You and your health care provider should make this choice together.    Pregnant women should not take regular vitamins. They may have too much or too little of the vitamins that you need. There are special vitamins for pregnant women. It is important to take 0.4 mg of folic acid every day before you become pregnant through the first part of your pregnancy. Folic acid helps to prevent birth defects of the baby's brain or spine.    Food and Drug Administration
Question: What is (are) Neurologic Diseases ?

Answer: The brain, spinal cord, and nerves make up the nervous system. Together they control all the workings of the body. When something goes wrong with a part of your nervous system, you can have trouble moving, speaking, swallowing, breathing, or learning. You can also have problems with your memory, senses, or mood.    There are more than 600 neurologic diseases. Major types include       -  Diseases caused by faulty genes, such as Huntington's disease and muscular dystrophy    -  Problems with the way the nervous system develops, such as spina bifida    -  Degenerative diseases, where nerve cells are damaged or die, such as Parkinson's disease and Alzheimer's disease    -  Diseases of the blood vessels that supply the brain, such as stroke    -  Injuries to the spinal cord and brain    -  Seizure disorders, such as epilepsy     -  Cancer, such as brain tumors    -  infections, such as meningitis
Question: What is (are) Aphasia ?

Answer: Aphasia is a disorder caused by damage to the parts of the brain that control language. It can make it hard for you to read, write, and say what you mean to say. It is most common in adults who have had a stroke. Brain tumors, infections, injuries, and dementia can also cause it. The type of problem you have and how bad it is depends on which part of your brain is damaged and how much damage there is.     There are four main types:       -  Expressive aphasia - you know what you want to say, but you have trouble saying or writing what you mean     -  Receptive aphasia - you hear the voice or see the print, but you can't make sense of the words     -  Anomic aphasia - you have trouble using the correct word for objects, places, or events     -  Global aphasia - you can't speak, understand speech, read, or write        Some people recover from aphasia without treatment. Most, however, need language therapy as soon as possible.     NIH: National Institute of Neurological Disorders and Stroke
Question: What is (are) Legionnaires' Disease ?

Answer: Legionnaires' disease is a type of pneumonia caused by bacteria. You usually get it by breathing in mist from water that contains the bacteria. The mist may come from hot tubs, showers, or air-conditioning units for large buildings. The bacteria don't spread from person to person.    Symptoms of Legionnaires' disease include high fever, chills, a cough, and sometimes muscle aches and headaches. Other types of pneumonia have similar symptoms. You will probably need a chest x-ray to diagnose the pneumonia. Lab tests can detect the specific bacteria that cause Legionnaires' disease.     Most people exposed to the bacteria do not become sick. You are more likely to get sick if you       - Are older than 50    - Smoke    - Have a chronic lung disease    - Have a weak immune system       Legionnaires' disease is serious and can be life-threatening. However, most people recover with antibiotic treatment.     Centers for Disease Control and Prevention
Question: What is (are) Interstitial Cystitis ?

Answer: Interstitial cystitis (IC) is a condition that causes discomfort or pain in the bladder and a need to urinate frequently and urgently. It is far more common in women than in men. The symptoms vary from person to person. Some people may have pain without urgency or frequency. Others have urgency and frequency without pain. Women's symptoms often get worse during their periods. They may also have pain with sexual intercourse.    The cause of IC isn't known. There is no one test to tell if you have it. Doctors often run tests to rule out other possible causes of symptoms. There is no cure for IC, but treatments can help most people feel better. They include       - Distending, or inflating, the bladder    - Bathing the inside of the bladder with a drug solution    - Oral medicines    - Electrical nerve stimulation    - Physical therapy    - Lifestyle changes    - Bladder training    - In rare cases, surgery       NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Question: What is (are) Tay-Sachs Disease ?

Answer: Tay-Sachs disease is a rare, inherited disorder. It causes too much of a fatty substance to build up in the brain. This buildup destroys nerve cells, causing mental and physical problems.    Infants with Tay-Sachs disease appear to develop normally for the first few months of life. Then mental and physical abilities decline. The child becomes blind, deaf, and unable to swallow. Muscles begin to waste away and paralysis sets in. Even with the best of care, children with Tay-Sachs disease usually die by age 4.    The cause is a gene mutation which is most common in Eastern European Ashkenazi Jews. To get the disease, both parents must have the gene. If they do, there is a 25% chance of the child having the disease. A blood test and prenatal tests can check for the gene or the disease.    There is no cure. Medicines and good nutrition can help some symptoms. Some children need feeding tubes.    NIH: National Institute of Neurological Disorders and Stroke