umarjan11/Medical-qna huggingface dataset:
Question: What is (are) BRCA1 hereditary breast and ovarian cancer syndrome ?

Answer: BRCA1 hereditary breast and ovarian cancer syndrome (BRCA1 HBOC) is an inherited condition that is characterized by an increased risk for a variety of different cancers. Women with this condition have a 57-60% risk of developing breast cancer, a 40-59% risk of developing ovarian cancer and an 83% risk of developing contralateral breast cancer by age 70. Men have a 1% lifetime risk of breast cancer and an increased risk for prostate cancer. BRCA1 HBOC may also be associated with an elevated risk for cancers of the cervix, uterus, pancreas, esophagus, stomach, fallopian tube, and primary peritoneum; however, these risks are not well defined. This condition is caused by changes (mutations) in the BRCA1 gene and is inherited in an autosomal dominant manner. Management may include high risk cancer screening, chemoprevention and/or prophylactic surgeries.
Question: What are the treatments for Mosaic trisomy 9 ?

Answer: How might mosaic trisomy 9 be treated? Because mosaic trisomy 9 affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this condition varies based on the signs and symptoms present in each person. For example, children with bone or muscle abnormalities and/or delayed motor milestones (i.e. walking) may be referred for physical or occupational therapy. Depending on the degree of intellectual disability, a child may require special education classes. Heart defects and cleft lip and/or palate may need to be surgically repaired. Children with hydrocephalus may be treated with certain medications and/or shunting (placement of a specialized device that drains excess fluid away from the brain). Other surgeries may be recommended depending on the nature and severity of the other features (i.e. craniofacial, muscular, skeletal, kidney, and/or reproductive system problems) and their associated symptoms.
Question: What is (are) Schizencephaly ?

Answer: Schizencephaly is a rare congenital (present from birth) brain malformation in which abnormal slits or clefts form in the cerebral hemispheres of the brain. The signs and symptoms of this condition may include developmental delay, seizures, and problems with brain-spinal cord communication. Affected people may also have an abnormally small head (microcephaly); hydrocephalus; intellectual disability; partial or complete paralysis; and/or poor muscle tone (hypotonia). Severity of symptoms depends on many factors including the extent of the clefting and whether or not other brain abnormalities are present. Although the exact cause of schizencephaly is unknown, it has been linked to a variety of genetic and non-genetic factors. Treatment generally consists of physical therapy and drugs to prevent seizures. In cases that are complicated by hydrocephalus, a surgically implanted tube, called a shunt, is often used to divert fluid to another area of the body where it can be absorbed.
Question: What is (are) Bednar tumor ?

Answer: Bednar tumor is a rare variant of dermatofibrosarcoma protuberans (DFSP), a soft tissue sarcoma that develops in the deep layers of the skin. It accounts for approximately 1% of all DFSP cases. Bednar tumor is also known as pigmented DFSP because it contains dark-colored cells that give may give the tumor a multi-colored (i.e red and brown) appearance. The tumor may begin as a painless, slow-growing papule or patch of skin; however, accelerated growth, bleeding and/or pain are often observed as it grows. The underlying cause of Bednar tumor is unknown. There is currently no evidence of an inherited risk for the condition and most cases occur sporadically in people with no family history of the condition. Treatment varies based on the severity of the condition, the location of the tumor and the overall health of the affected person. The tumor is generally treated with surgery. In advanced cases, radiation therapy and/or systemic therapy may be recommended, as well.
Question: What is (are) Methylmalonic acidemia with homocystinuria, type cblC ?

Answer: Methylmalonic academia with homocystinuria (MMA+HCU) cblC is a genetic disorder that prevents the body from breaking down certain amino acids found in protein (i.e., isoleucine, valine, methionine, and threonine). As a result, homocystine, methylmalonic acid, and other harmful substances build-up in the body. Treatment should begin as soon as possible. In general, treatment may involve a low-protein diet, medical formula/drink, regular meals, careful monitoring, and vitamin B12 shots. Most US states now offer newborn screening for MMA+HCU, allowing for early detection and treatment. However even with early treatment, most children with MMA+HCU experience some symptoms affecting vision, growth, and learning. MMA+HCU cblC type is caused by changes in the MMACHC gene. It is inherited in an autosomal recessive fashion.
Question: What causes Synovial Chondromatosis ?

Answer: What causes synovial chondromatosis? The exact underlying cause of synovial chondromatosis is unknown. Some research suggests that trauma may play a role in its development because the condition primarily occurs in weight-bearing joints. Infection has also been considered as a contributing factor. The condition is not inherited. Synovial chondromatosis can reportedly occur as either a primary or secondary form. Primary synovial chondromatosis, which is more rare, occurs spontaneously and does not appear to relate to any pre-existing conditions. Secondary synovial chondromatosis is the more common form and often occurs when there is pre-existent osteoarthritis, rheumatoid arthritis, osteonecrosis, osteochondritis dissecans, neuropathic osteoarthropathy (which often occurs in diabetic individuals), tuberculosis, or osteochondral fractures (torn cartilage covering the end of a bone in a joint) in the affected individual.
Question: What is (are) Stickler syndrome, type 2 ?

Answer: Stickler syndrome is a group of hereditary connective tissue disorders characterized by distinctive facial features, eye abnormalities, hearing loss, and joint problems. The features vary widely among affected people. Stickler syndrome type 1 may be divided into 2 subgroups: the membranous vitreous type and a predominantly ocular type. Both are caused by mutations in the COL2A1 gene. Stickler syndrome type II, sometimes called the beaded vitreous type, is caused by mutations in the COL11A1 gene. Stickler syndrome type III, sometimes called the nonocular form, is caused by mutations in the COL11A2 gene. These forms of Stickler syndrome are inherited in an autosomal dominant manner. Stickler syndrome type IV is caused by mutations in the COL9A1 gene, and Stickler syndrome type V is caused by mutations in the COL9A2 gene. These types of Stickler syndrome are inherited in an autosomal recessive manner.
Question: Is WAGR syndrome inherited ?

Answer: Most cases of WAGR 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.  Some affected individuals inherit a chromosome 11 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 WAGR syndrome who inherit an unbalanced translocation are missing genetic material from the short arm of chromosome 11, which results in an increased risk of Wilms tumor, aniridia, genitourinary anomalies, and intellectual disability.
Question: What are the genetic changes related to sialuria ?

Answer: Mutations in the GNE gene cause sialuria. The GNE gene provides instructions for making an enzyme found in cells and tissues throughout the body. This enzyme is involved in a chemical pathway that produces sialic acid, which is a simple sugar that attaches to the ends of more complex molecules on the surface of cells. By modifying these molecules, sialic acid influences a wide variety of cellular functions including cell movement (migration), attachment of cells to one another (adhesion), signaling between cells, and inflammation.  The enzyme produced from the GNE gene is carefully controlled to ensure that cells produce an appropriate amount of sialic acid. A feedback system shuts off the enzyme when no more sialic acid is needed. The mutations responsible for sialuria disrupt this feedback mechanism, resulting in an overproduction of sialic acid. This simple sugar builds up within cells and is excreted in urine. Researchers are working to determine how an accumulation of sialic acid in the body interferes with normal development in people with sialuria.
Question: What are the genetic changes related to congenital deafness with labyrinthine aplasia, microtia, and microdontia ?

Answer: LAMM syndrome is caused by mutations in the FGF3 gene, which provides instructions for making a protein called fibroblast growth factor 3 (FGF3). By attaching to another protein known as a receptor, the FGF3 protein triggers a cascade of chemical reactions inside the cell that signal the cell to undergo certain changes, such as dividing or maturing to take on specialized functions. During development before birth, the signals triggered by the FGF3 protein stimulate cells to form the structures that make up the inner ears. The FGF3 protein is also involved in the development of many other organs and structures, including the outer ears and teeth.  FGF3 gene mutations involved in LAMM syndrome alter the FGF3 protein. The altered protein likely has reduced or absent function and is unable to stimulate signaling. The loss of FGF3 function impairs development of the ears and teeth, which leads to the characteristic features of LAMM syndrome.
Question: What are the treatments for hypohidrotic ectodermal dysplasia ?

Answer: These resources address the diagnosis or management of hypohidrotic ectodermal dysplasia:  - Gene Review: Gene Review: Hypohidrotic Ectodermal Dysplasia  - Genetic Testing Registry: Autosomal dominant hypohidrotic ectodermal dysplasia  - Genetic Testing Registry: Autosomal recessive hypohidrotic ectodermal dysplasia syndrome  - Genetic Testing Registry: Hypohidrotic X-linked ectodermal dysplasia  - MedlinePlus Encyclopedia: Ectodermal dysplasia  - MedlinePlus Encyclopedia: Ozena  - MedlinePlus Encyclopedia: Sweating - absent   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: What is (are) Li-Fraumeni syndrome ?

Answer: Li-Fraumeni syndrome is a rare disorder that greatly increases the risk of developing several types of cancer, particularly in children and young adults.  The cancers most often associated with Li-Fraumeni syndrome include breast cancer, a form of bone cancer called osteosarcoma, and cancers of soft tissues (such as muscle) called soft tissue sarcomas. Other cancers commonly seen in this syndrome include brain tumors, cancers of blood-forming tissues (leukemias), and a cancer called adrenocortical carcinoma that affects the outer layer of the adrenal glands (small hormone-producing glands on top of each kidney). Several other types of cancer also occur more frequently in people with Li-Fraumeni syndrome.  A very similar condition called Li-Fraumeni-like syndrome shares many of the features of classic Li-Fraumeni syndrome. Both conditions significantly increase the chances of developing multiple cancers beginning in childhood; however, the pattern of specific cancers seen in affected family members is different.
Question: What are the genetic changes related to congenital cataracts, facial dysmorphism, and neuropathy ?

Answer: A mutation in the CTDP1 gene causes CCFDN. The CTDP1 gene provides instructions for making a protein called carboxy-terminal domain phosphatase 1. This protein helps regulate the process of transcription, which is a key step in using the information carried by genes to direct the production (synthesis) of proteins.  All known individuals with CCFDN have the same mutation in both copies of the CTDP1 gene in each cell. This mutation alters the way the gene's instructions are pieced together to produce the carboxy-terminal domain phosphatase 1 protein. The altered instructions introduce a premature stop signal, resulting in an abnormally short, nonfunctional protein that cannot regulate transcription. Defective regulation of the transcription process affects the development and function of many parts of the body. It is not known how nonfunctional carboxy-terminal domain phosphatase 1 protein results in the specific signs and symptoms of CCFDN.
Question: What are the genetic changes related to retinoblastoma ?

Answer: Mutations in the RB1 gene are responsible for most cases of retinoblastoma. RB1 is a tumor suppressor gene, which means that it normally regulates cell growth and keeps cells from dividing too rapidly or in an uncontrolled way. Most mutations in the RB1 gene prevent it from making any functional protein, so it is unable to regulate cell division effectively. As a result, certain cells in the retina can divide uncontrollably to form a cancerous tumor. Some studies suggest that additional genetic changes can influence the development of retinoblastoma; these changes may help explain variations in the development and growth of tumors in different people.  A small percentage of retinoblastomas are caused by deletions in the region of chromosome 13 that contains the RB1 gene. Because these chromosomal changes involve several genes in addition to RB1, affected children usually also have intellectual disability, slow growth, and distinctive facial features (such as prominent eyebrows, a short nose with a broad nasal bridge, and ear abnormalities).
Question: What to do for Smoking and the Digestive System ?

Answer: - Smoking has been found to increase the risk of cancers of the mouth, esophagus, stomach, and pancreas. Research suggests that smoking may also increase the risk of cancers of the liver, colon, and rectum.  - Smoking increases the risk of heartburn and gastroesophageal reflux disease (GERD).  - Smoking increases the risk of peptic ulcers.  - Smoking may worsen some liver diseases, including primary biliary cirrhosis and nonalcoholic fatty liver disease (NAFLD).  - Current and former smokers have a higher risk of developing Crohns disease than people who have never smoked.  - People who smoke are more likely to develop colon polyps.  - Smoking increases the risk of developing pancreatitis.  - Some studies have shown that smoking may increase the risk of developing gallstones. However, research results are not consistent and more study is needed.  - Quitting smoking can reverse some of the effects of smoking on the digestive system.
Question: What causes Hematuria (Blood in the Urine) ?

Answer: Hematuria can be caused by menstruation, vigorous exercise, sexual activity, viral illness, trauma, or infection, such as a urinary tract infection (UTI). More serious causes of hematuria include
                
- cancer of the kidney or bladder  - inflammation of the kidney, urethra, bladder, or prostatea walnut-shaped gland in men that surrounds the urethra at the neck of the bladder and supplies fluid that goes into semen  - polycystic kidney diseasean inherited disorder characterized by many grape-like clusters of fluid-filled cysts that make both kidneys larger over time, taking over and destroying working kidney tissue  - blood clots  - blood clotting disorders, such as hemophilia  - sickle cell diseasean inherited disorder in which RBCs form an abnormal crescent shape, resulting in less oxygen delivered to the bodys tissues, clogging of small blood vessels, and disruption of healthy blood flow
Question: What is (are) Pemphigus ?

Answer: Pemphigus is an autoimmune disorder. If you have it, your immune system attacks healthy cells in your skin and mouth, causing blisters and sores. No one knows the cause. Pemphigus does not spread from person to person. It does not appear to be inherited. But some people's genes put them more at risk for pemphigus.    Pemphigoid is also an autoimmune skin disease. It leads to deep blisters that do not break easily. Pemphigoid is most common in older adults and may be fatal for older, sick patients.    Doctors diagnose pemphigus with a physical exam, a biopsy, and blood tests. The treatment of pemphigus and pemphigoid is the same: one or more medicines to control symptoms. These may include       - Steroids, which reduce inflammation    - Drugs that suppress the immune system response    - Antibiotics to treat associated infections       NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
Question: What is (are) Sun Exposure ?

Answer: Ultraviolet (UV) rays are an invisible form of radiation. They can pass through your skin and damage your skin cells. Sunburns are a sign of skin damage. Suntans aren't healthy, either. They appear after the sun's rays have already killed some cells and damaged others. UV rays can cause skin damage during any season or at any temperature. They can also cause eye problems, wrinkles, skin spots, and skin cancer.    To protect yourself        -  Stay out of the sun when it is strongest (between 10 a.m. and 2 p.m.)    -  Use sunscreen with an SPF of 15 or higher     -  Wear protective clothing     -  Wear wraparound sunglasses that provide 100 percent UV ray protection    -  Avoid sunlamps and tanning beds        Check your skin regularly for changes in the size, shape, color, or feel of birthmarks, moles, and spots. Such changes are a sign of skin cancer.     Food and Drug Administration
Question: Do you have information about Dietary Fats

Answer: Summary : Fat is a type of nutrient. You need some fat in your diet but not too much. Fats give you energy and help your body absorb vitamins. Dietary fat also plays a major role in your cholesterol levels.    But not all fats are the same. You should try to avoid       - Saturated fats such as butter, solid shortening, and lard    - Trans fats. These are found in vegetable shortenings, some margarines, crackers, cookies, snack foods, and other foods made with or fried in partially hydrogenated oils (PHOs). By 2018, most U.S. companies will not be allowed to add PHOs to food.       Try to replace them with oils such as canola, olive, safflower, sesame, or sunflower. Of course, eating too much fat will put on the pounds. Fat has twice as many calories as proteins or carbohydrates.    NIH: National Heart, Lung, and Blood Institute
Question: What is (are) Shoulder Injuries and Disorders ?

Answer: Your shoulder joint is composed of three bones: the clavicle (collarbone), the scapula (shoulder blade), and the humerus (upper arm bone). Your shoulders are the most movable joints in your body. They can also be unstable because the ball of the upper arm is larger than the shoulder socket that holds it. To remain in a stable or normal position, the shoulder must be anchored by muscles, tendons and ligaments. Because the shoulder can be unstable, it is the site of many common problems. They include sprains, strains, dislocations, separations, tendinitis, bursitis, torn rotator cuffs, frozen shoulder, fractures and arthritis.     Usually shoulder problems are treated with RICE. This stands for Rest, Ice, Compression and Elevation. Other treatments include exercise, medicines to reduce pain and swelling, and surgery if other treatments don't work.    NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
Question: Do you have information about Childhood Immunization

Answer: Summary : Today, children in the United States routinely get vaccines that protect them from more than a dozen diseases such as measles, polio, tetanus, diphtheria, and pertussis (whooping cough). Most of these diseases are now at their lowest levels in history, thanks to years of immunization. Children must get at least some vaccines before they may attend school.    Vaccines help make you immune to serious diseases without getting sick first. Without a vaccine, you must actually get a disease in order to become immune to the germ that causes it. Vaccines work best when they are given at certain ages. For example, children don't receive measles vaccine until they are at least one year old. If it is given earlier it might not work as well. The Centers for Disease Control and Prevention publishes a schedule for childhood vaccines.    Although some of the vaccines you receive as a child provide protection for many years, adults need immunizations too.    Centers for Disease Control and Prevention
Question: What is (are) Heart Attack ?

Answer: Each year over a million people in the U.S. have a heart attack. About half of them die. Many people have permanent heart damage or die because they don't get help immediately. It's important to know the symptoms of a heart attack and call 9-1-1 if someone is having them. Those symptoms include       - Chest discomfort - pressure, squeezing, or pain     - Shortness of breath     - Discomfort in the upper body - arms, shoulder, neck, back     - Nausea, vomiting, dizziness, lightheadedness, sweating        These symptoms can sometimes be different in women.    What exactly is a heart attack? Most heart attacks happen when a clot in the coronary artery blocks the supply of blood and oxygen to the heart. Often this leads to an irregular heartbeat - called an arrhythmia - that causes a severe decrease in the pumping function of the heart. A blockage that is not treated within a few hours causes the affected heart muscle to die.    NIH: National Heart, Lung, and Blood Institute
Question: What is (are) Pneumococcal Infections ?

Answer: Pneumococci are a type of streptococcus bacteria. The bacteria spread through contact with people who are ill or by healthy people who carry the bacteria in the back of their nose. Pneumococcal infections can be mild or severe. The most common types of infections are       - Ear infections    - Sinus infections    - Pneumonia    - Sepsis    - Meningitis       How the diagnosis is made depends upon where the infection is. Your doctor will do a physical exam and health history. Possible tests may include blood, imaging, or lab tests. Treatment is with antibiotics. Vaccines can prevent pneumococcal infections. There are two vaccines. One is for infants and young children. The other is for people at high risk, including those who are over 65 years old, have chronic illnesses or weak immune systems, smoke, have asthma, or live in long-term care facilities.    Centers for Disease Control and Prevention
Question: Do you have information about X-Rays

Answer: Summary : X-rays are a type of radiation called electromagnetic waves. X-ray imaging creates pictures of the inside of your body. The images show the parts of your body in different shades of black and white. This is because different tissues absorb different amounts of radiation. Calcium in bones absorbs x-rays the most, so bones look white. Fat and other soft tissues absorb less, and look gray. Air absorbs the least, so lungs look black.    The most familiar use of x-rays is checking for broken bones, but x-rays are also used in other ways. For example, chest x-rays can spot pneumonia. Mammograms use x-rays to look for breast cancer.    When you have an x-ray, you may wear a lead apron to protect certain parts of your body. The amount of radiation you get from an x-ray is small. For example, a chest x-ray gives out a radiation dose similar to the amount of radiation you're naturally exposed to from the environment over 10 days.