umarjan11/Medical-qna huggingface dataset:
Question: What is (are) Hereditary hemorrhagic telangiectasia ?

Answer: Hereditary hemorrhagic telangiectasia (HHT) is an inherited disorder of the blood vessels that can cause excessive bleeding. People with this condition can develop abnormal blood vessels called arteriovenous malformations (AVMs) in several areas of the body. If they are on the skin, they are called telangiectasias. The AVMs can also develop in other parts of the body, such as the brain, lungs, liver, or intestines. HHT is caused by mutations in the ACVRL1, ENG, and SMAD4 genes. 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. There is no cure for HHT. Treatment is symptomatic and supportive, with a focus on controlling bleeding, either through surgery or medication.
Question: What are the symptoms of Eosinophilic enteropathy ?

Answer: What are the signs and symptoms of eosinophilic enteropathy? The symptoms of eosinophilic gastroenteritis vary depending on where the eosinophils build up in the gastrointestinal system and which layers of the intestinal wall are involved. Symptoms often include pain, skin rash, acid reflux, anemia, diarrhea, stomach cramps, bleeding, nausea, vomiting, loss of appetite, blood loss in stools, and choking. Symptoms can occur at any age, although they usually develop between ages 20 and 50 years. The symptoms of eosinophilic enteropathy overlap with other gastrointestinal disorders, such as ulcerative colitis, which makes diagnosis difficult. It is common for individuals with this disorder to have symptoms for many years before an accurate diagnosis is made.
Question: What is (are) Factor XIII deficiency ?

Answer: Factor XIII deficiency is an extremely rare inherited blood disorder characterized by abnormal blood clotting that may result in abnormal bleeding. Signs and symptoms occur as the result of a deficiency in the blood clotting factor 13, which is responsible for stabilizing the formation of a blood clot. In affected individuals, the blood fails to clot appropriately, resulting in poor wound healing. Blood may seep into surrounding soft tissues, resulting in local pain and swelling. Internal bleeding may occur; about 25 percent of affected individuals experience bleeding in the brain. FXIII deficiency is usually caused by mutations in the F13A1 gene, but mutations have also been found in the F13B gene. It is usually inherited in an autosomal recessive fashion. Acquired forms have also been reported in association with liver failure, inflammatory bowel disease, and myeloid leukemia.
Question: How to diagnose Schwannomatosis ?

Answer: How is schwannomatosis diagnosed? A diagnosis of schwannomatosis is often suspected based on the presence of characteristic signs and symptoms, especially if there are other family members with the condition. Additional testing can then be ordered to further support the diagnosis and rule out other conditions with similar features (namely, neurofibromatosis type 2). This may include: Tumor pathology confirming that the growths are, in fact, schwannomas Imaging studies, such as an MRI examining the vestibular nerve. It is important to rule out the presence of bilateral (affecting both sides) vestibular schwannomas which would be suggestive of neurofibromatosis type 2 rather than schwannomatosis Genetic testing for a change (mutation) in the SMARCB1 or LZTR1 genes. Unfortunately, genetic testing is not informative in all people affected by schwannomatosis.
Question: What is (are) Vohwinkel syndrome ?

Answer: Vohwinkel syndrome is an inherited condition that affects the skin. People with the "classic form" generally have honeycomb-patterned calluses on the palms of the hands and the soles of the feet (palmoplantar keratoses); constricting bands of tissue on the fingers and toes which can cause amputation; starfish-shaped, thickened skin on the tops of the fingers and knees; and hearing loss. A "variant form" of Vohwinkel syndrome has also been identified which is characterized by ichthyosis in addition to the classic skin abnormalities and is not associated with hearing loss. Classic Vohwinkel syndrome is caused by changes (mutations) in the GJB2 gene and the variant form is caused by mutations in the LOR gene. Both are inherited in an autosomal dominant manner. Although there is currently no cure for the condition, treatments are available to alleviate symptoms.
Question: Is Corneal endothelial dystrophy type 2 inherited ?

Answer: How is corneal endothelial dystropy type 2 inherited? Most cases of corneal endothelial dystrophy type 2 are caused by homozygous mutations in the SLC4A11 gene. The condition is transmitted in an autosomal recessive manner. This means that two unaffected parents each carry one copy of a gene mutation for the condition. Neither parent will show signs or symptoms of the condition because two copies are needed for the condition to occur. There have been several families with corneal endothelial dystrophy type 2 where no mutation was found in the SLC4A11 gene. To find laboratories offering genetic testing to confirm a diagnosis, please visit the Tests and Diagnosis section of the Web site. http://rarediseases.info.nih.gov/gard/6196/ched2/resources/12
Question: What are the symptoms of Binswanger's disease ?

Answer: What are the signs and symptoms of Binswanger's disease? The signs and symptoms associated with Binswanger's disease generally disrupt tasks related to "executive cognitive functioning," including short-term memory, organization, mood, the regulation of attention, the ability to make decisions, and appropriate behavior. Binswanger's disease is primarily characterized by psychomotor slowness - an increase in the length of time it takes, for example, for the fingers to turn the thought of a letter into the shape of a letter on a piece of paper. Other symptoms include forgetfulness (but not as severe as the forgetfulness of Alzheimer disease); changes in speech; an unsteady gait; clumsiness or frequent falls; changes in personality or mood (most likely in the form of apathy, irritability, and depression); and urinary symptoms that aren't caused by urological disease.
Question: What is (are) Sprengel deformity ?

Answer: Sprengel deformity is a congenital condition characterized by abnormal development and elevation of the shoulder blade (scapula). Severity can range considerably from being almost invisible when covered with clothes, to the shoulder being elevated over 5 centimeters, with neck webbing. Signs and symptoms may include a lump in the back of the base of the neck and limited movement in the shoulder or arm. The condition may also be associated with other skeletal (bone or cartilage) or muscular abnormalities. Sprengel deformity typically occurs sporadically for no apparent reason but autosomal dominant inheritance has been reported. It is caused by an interruption of normal development and movement of the scapula during early fetal growth (probably between the 9th and 12th weeks of gestation). Treatment often includes physical therapy, but severe cases may require surgery to improve cosmetic appearance and scapular function.
Question: What is (are) Primary lateral sclerosis ?

Answer: Primary lateral sclerosis is a type of motor neuron disease, where nerve cells that control voluntary muscle movement breakdown and die. In primary lateral sclerosis only the upper motor neurons in the brain are affected. Symptoms often begin with problems in the legs (e.g., weakness, stiffness, spasticity, and balance problems), but may also start with hand clumsiness and changes in speech. The symptoms worsen gradually over time, however people with this condition have a normal life expectancy. Progression of symptoms varies from person to person, some people retain the ability to walk without assistance, others eventually require assistive devices such as canes or wheelchairs. Diagnosis requires extensive testing to exclude other diseases. Treatment may include baclofen and tizanidine to reduce spasticity, quinine or phenytoin to reduce cramps, as well as physical and speech therapy as required.
Question: What causes Cold agglutinin disease ?

Answer: What causes cold agglutinin disease? Cold agglutinin disease is typically classified as primary (unknown cause) or secondary (caused by an underlying condition). Secondary cold agglutinin disease may be associated with: Bacterial Infections such as mycoplasma, Legionnaires' disease, syphilis, listeriosis, or E. Coli Viral infections such Epstein-Barr virus, cytomegalovirus, mumps, varicella, rubella, adenovirus, HIV, influenza, or hepatitis C Parasitic infections such as malaria or trypanosomiasis Other autoimmune diseases such as systemic lupus erythematosus Certain types of cancers such as lymphoma, chronic lymphocytic leukemia, Waldenstrm macroglobulinemia, multiple myeloma, and Kaposi sarcoma
Question: What are the treatments for Relapsing polychondritis ?

Answer: How might relapsing polychondritis be treated? The primary goals of treatment for people with relapsing polychondritis (RP) are to relieve present symptoms and to preserve the structure of the affected cartilage. The main treatment for RP is corticosteroid therapy with prednisone to decrease the severity, frequency and duration of relapses. Higher doses are generally given during flares, while lower doses can typically be prescribed during periods of remission. Other medications reported to control symptoms include dapsone, colchicine, azathioprine, methotrexate, cyclophosphamide, hydroxychloroquine, cyclosporine and infliximab. People who develop severe heart or respiratory complications may require surgery. More detailed information about the management of RP is available on Medscape Reference's Web site and can be viewed by clicking here.
Question: What is (are) Epidermolysis bullosa ?

Answer: Epidermolysis bullosa (EB) is a group of genetic skin diseases that cause the skin to blister very easily. Blisters form in response to minor injuries or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa: Dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional epidermolysis bullosa Kindler Syndrome Identifying the exact type can be hard because there are many subtypes of EB. Within each type or subtype, a person may be mildly or severely affected. The disease can range from being a minor inconvenience to completely disabling, and fatal in some cases. Most types of EB are inherited. The inheritance pattern may be autosomal dominant or autosomal recessive. Management involves protecting the skin, reducing friction against the skin, and keeping the skin cool.
Question: What is (are) Congenital myasthenic syndrome ?

Answer: Congenital myasthenic syndrome (CMS) is a group of genetic disorders that result in muscle weakness and fatigue. Symptoms can range from mild weakness to progressive disabling weakness. There are three main subtypes of CMS, which are defined by how they affect the connection between muscles and the nervous system: postsynaptic (75-80% of patients), synaptic (14-15% of patients), and presynaptic (7-8% of patients). Identification of the specific subtype is important in patient care for determining the most effective treatment. Mutations in many genes have been found to cause CMS, and most forms of CMS are inherited in an autosomal recessive pattern. One form of CMS, a postsynaptic form known as slow-channel syndrome congenital myasthenic syndrome is inherited in an autosomal dominant manner.
Question: How to prevent Parasites - Cysticercosis ?

Answer: To prevent cysticercosis, the following precautions should be taken:
    
     - Wash your hands with soap and warm water after using the toilet, changing diapers, and before handling food
     - Teach children the importance of washing hands to prevent infection
     - Wash and peel all raw vegetables and fruits before eating
     - Use good food and water safety practices while traveling in developing countries such as: 
      
       - Drink only bottled or boiled (1 minute) water or carbonated (bubbly) drinks in cans or bottles
       - Filter unsafe water through an "absolute 1 micron or less" filter AND dissolve iodine tablets in the filtered water; "absolute 1 micron" filters can be found in camping and outdoor supply stores
      
    
    
More on: Handwashing
    
More on: Food and Water Safety
Question: Who is at risk for Parasites - Paragonimiasis (also known as Paragonimus Infection)? ?

Answer: Several species of Paragonimus cause most infections; the most important is P. westermani, which occurs primarily in Asia including China, the Philippines, Japan, Vietnam, South Korea, Taiwan, and Thailand. P. africanus causes infection in Africa, and P. mexicanus in Central and South America. Specialty dishes in which shellfish are consumed raw or prepared only in vinegar, brine, or wine without cooking play a key role in the transmission of paragonimiasis. Raw crabs or crayfish are also used in traditional medicine practices in Korea, Japan, and some parts of Africa.
    
Although rare, human paragonimiasis from P. kellicotti has been acquired in the United States, with multiple cases from the Midwest. Several cases have been associated with ingestion of uncooked crawfish during river raft float trips in Missouri.
Question: What is (are) Tuberous Sclerosis ?

Answer: Tuberous sclerosis (TSC) is a rare genetic disease that causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin. It usually affects the central nervous system. In addition to the benign tumors that frequently occur in TSC, other common symptoms include seizures,impaired intellectual development, behavior problems, and skin abnormalities. TSC may be present at birth, but signs of the disorder can be subtle and full symptoms may take some time to develop. Three types of brain tumors are associated with TSC: cortical tubers, which generally form on the surface of the brain; subependymal nodules, which form in the walls of the ventricles (the fluid-filled cavities of the brain); and giant-cell astrocytomas, a type of tumor that can block the flow of fluids within the brain.
Question: What are the genetic changes related to sudden infant death with dysgenesis of the testes syndrome ?

Answer: A single mutation in the TSPYL1 gene has caused all identified cases of SIDDT. This gene provides instructions for making a protein called TSPY-like 1, whose function is unknown. Based on its role in SIDDT, researchers propose that TSPY-like 1 is involved in the development of the male reproductive system and the brain.  The TSPYL1 gene mutation that causes SIDDT eliminates the function of TSPY-like 1. The loss of this protein's function appears to cause the major features of the disorder by disrupting the normal development of the male reproductive system and the brain, particularly the brainstem.  Research findings suggest that mutations in the TSPYL1 gene are not associated with sudden infant death syndrome (SIDS) in the general population. SIDS is a major cause of death in children younger than 1 year.
Question: What are the genetic changes related to ADCY5-related dyskinesia ?

Answer: As its name suggests, ADCY5-related dyskinesia is caused by mutations in the ADCY5 gene. This gene provides instructions for making an enzyme called adenylate cyclase 5. This enzyme helps convert a molecule called adenosine triphosphate (ATP) to another molecule called cyclic adenosine monophosphate (cAMP). ATP is a molecule that supplies energy for cells' activities, including muscle contraction, and cAMP is involved in signaling for many cellular functions. Some ADCY5 gene mutations that cause ADCY5-related dyskinesia are thought to increase adenylate cyclase 5 enzyme activity and the level of cAMP within cells. Others prevent production of adenylate cyclase 5. It is unclear how either type of mutation leads to the abnormal movements that occur in this disorder.
Question: What are the treatments for congenital dyserythropoietic anemia ?

Answer: These resources address the diagnosis or management of CDA:  - Gene Review: Gene Review: Congenital Dyserythropoietic Anemia Type I  - Genetic Testing Registry: Congenital dyserythropoietic anemia, type I  - Genetic Testing Registry: Congenital dyserythropoietic anemia, type II  - Genetic Testing Registry: Congenital dyserythropoietic anemia, type III  - MedlinePlus Encyclopedia: Ham Test  - MedlinePlus Encyclopedia: Hepatomegaly  - MedlinePlus Encyclopedia: Jaundice  - MedlinePlus Encyclopedia: Splenomegaly   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
Question: Is Weill-Marchesani syndrome inherited ?

Answer: Weill-Marchesani syndrome can be inherited in either an autosomal recessive or an autosomal dominant pattern.  When Weill-Marchesani syndrome is caused by mutations in the ADAMTS10 gene, it has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.  Other cases of Weill-Marchesani syndrome, including those caused by mutations in the FBN1 gene, have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the genetic change from one parent with the condition.
Question: How many people are affected by Niemann-Pick disease ?

Answer: Niemann-Pick disease types A and B is estimated to affect 1 in 250,000 individuals. Niemann-Pick disease type A occurs more frequently among individuals of Ashkenazi (eastern and central European) Jewish descent than in the general population. The incidence within the Ashkenazi population is approximately 1 in 40,000 individuals.  Combined, Niemann-Pick disease types C1 and C2 are estimated to affect 1 in 150,000 individuals; however, type C1 is by far the more common type, accounting for 95 percent of cases. The disease occurs more frequently in people of French-Acadian descent in Nova Scotia. In Nova Scotia, a population of affected French-Acadians were previously designated as having Niemann-Pick disease type D, however, it was shown that these individuals have mutations in the gene associated with Niemann-Pick disease type C1.
Question: Is androgen insensitivity syndrome inherited ?

Answer: This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In genetic males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In genetic females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females.  About two-thirds of all cases of androgen insensitivity syndrome are inherited from mothers who carry an altered copy of the AR gene on one of their two X chromosomes. The remaining cases result from a new mutation that can occur in the mother's egg cell before the child is conceived or during early fetal development.
Question: What causes Mineral and Bone Disorder in Chronic Kidney Disease ?

Answer: Chronic kidney disease causes mineral and bone disorder because the kidneys do not properly balance the mineral levels in the body. The kidneys
                
- stop activating calcitriol. The low levels of calcitriol in the body create an imbalance of calcium in the blood.  - do not remove the phosphorus in the blood properly, so phosphorus levels rise in the blood. The extra phosphorus pulls calcium out of the bones, causing them to weaken.
                
Another factor contributes to the cause of mineral and bone disorder. When the kidneys are damaged, the parathyroid gland releases parathyroid hormone into the blood to pull calcium from the bones and raise blood calcium levels. This response restores the balance of phosphorus and calcium; however, it also starves the bones of much-needed calcium.
Question: How to prevent Hemolytic Uremic Syndrome in Children ?

Answer: Parents and caregivers can help prevent childhood hemolytic uremic syndrome due to E. coli O157:H7 by
                
- avoiding unclean swimming areas  - avoiding unpasteurized milk, juice, and cider  - cleaning utensils and food surfaces often  - cooking meat to an internal temperature of at least 160 F  - defrosting meat in the microwave or refrigerator  - keeping children out of pools if they have had diarrhea  - keeping raw foods separate  - washing hands before eating  - washing hands well after using the restroom and after changing diapers
                
When a child is taking medications that may cause hemolytic uremic syndrome, it is important that the parent or caretaker watch for symptoms and report any changes in the child's condition to the health care provider as soon as possible.
Question: What is (are) Osteoporosis ?

Answer: If you have osteoporosis, ask your doctor which activities are safe for you. If you have low bone mass, experts recommend that you protect your spine by avoiding exercises or activities that flex, bend, or twist it. Furthermore, you should avoid high-impact exercise to lower the risk of breaking a bone. You also might want to consult with an exercise specialist to learn the proper progression of activity, how to stretch and strengthen muscles safely, and how to correct poor posture habits. An exercise specialist should have a degree in exercise physiology, physical education, physical therapy, or a similar specialty. Be sure to ask if he or she is familiar with the special needs of people with osteoporosis. If you have health problemssuch as heart trouble, high blood pressure, diabetes, or obesityor if you aren't used to energetic activity, check with your doctor before you begin a regular exercise program.
Question: Who is at risk for Endometrial Cancer? ?

Answer: Health history and certain medicines can affect the risk of developing endometrial cancer. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. People who think they may be at risk should discuss this with their doctor. Risk factors for endometrial cancer include the following:         - Taking tamoxifen for treatment or prevention of breast cancer.    - Taking estrogen alone. (Taking estrogen in combination with progestin does not appear to increase the risk of endometrial cancer.)    - Being overweight.    - Eating a high-fat diet.    -  Never giving birth.    - Beginning menstruation at an early age.    - Reaching menopause at an older age.    - Having the gene for hereditary non-polyposis colon cancer (HNPCC).     - Being white.
Question: Do you have information about Premature Babies

Answer: Summary : Almost 1 of every 10 infants born in the United States are premature, or preemies. A premature birth is when a baby is born before 37 completed weeks of pregnancy. A full-term pregnancy is 40 weeks.    Important growth and development happen throughout pregnancy - especially in the final months and weeks. Because they are born too early, preemies weigh much less than full-term babies. They may have health problems because their organs did not have enough time to develop. Problems that a baby born too early may have include       - Breathing problems    - Feeding difficulties    - Cerebral palsy    - Developmental delay    - Vision problems    - Hearing problems       Preemies need special medical care in a neonatal intensive care unit, or NICU. They stay there until their organ systems can work on their own.     Centers for Disease Control and Prevention