umarjan11/Medical-qna huggingface dataset:
Question: What are the treatments for Arginase deficiency ?

Answer: How might arginase deficiency be treated? The treatment and management of arginase deficiency is generally focused on lowering arginine levels and preventing hyperammonemia (an accumulation of ammonia in the blood). This may be accomplished through dietary modifications and the use of certain medications (called nitrogen-scavenging drugs) under the supervision of a medical team with experience treating metabolic conditions. More specifically, people affected by arginase deficiency must restrict dietary protein and arginine. This is often achieved with the use of specialized formulas, which may account for half or more of protein intake. Although people with arginase deficiency are less prone to episodes of severe hyperammonemia than people affected by other urea cycle disorders, special treatment is needed should these episodes occur. During an episode, affected people are generally treated in the hospital and may require dialysis, nitrogen-scavenging medications, intravenous (IV) fluids/feeds and/or other treatments. These treatments are administered with the goal of rapidly reducing blood ammonia levels and preventing neurological damage. GeneReviews offers more specific information on the treatment of arginase deficiency and urea cycle disorders, in general. Please click on the links to access these resources.
Question: What causes Congenital anosmia ?

Answer: What causes congenital anosmia? Congenital anosmia may occur as an isolated abnormality or be associated with specific genetic disorders (such as Kallmann syndrome and congenital insensitivity to pain). Most cases of isolated congenital anosmia (not associated with additional symptoms) occur sporadically in people with no family history of the condition. In these people, the exact underlying cause of the condition is unknown. Most likely, there is more than one cause. Scientists suspect that the condition occurs due to abnormal development of the olfactory system (the sensory system used for sense of smell) prior to birth. This may include abnormalities of the nasal cavity, disruptions in the pathway that carries information from the nose to the brain, and/or malformations of the portion of the brain that processes sense of smell. Rarely, isolated congenital anosmia can affect more than one family member. This suggests that there may be a genetic component in some cases. One study found that some people affected by isolated congenital anosmia have changes (mutations) in PROKR2 or PROK2, two genes that have previously been reported in people with Kallmann syndrome (an inherited condition associated with congenital anosmia and other symptoms). To date, no other disease-causing genes have been identified.
Question: What are the symptoms of Deep Vein Thrombosis ?

Answer: The signs and symptoms of deep vein thrombosis (DVT) might be related to DVT itself or pulmonary embolism (PE). See your doctor right away if you have signs or symptoms of either condition. Both DVT and PE can cause serious, possibly life-threatening problems if not treated.
                
Deep Vein Thrombosis
                
Only about half of the people who have DVT have signs and symptoms. These signs and symptoms occur in the leg affected by the deep vein clot. They include:
                
Swelling of the leg or along a vein in the leg
                
Pain or tenderness in the leg, which you may feel only when standing or walking
                
Increased warmth in the area of the leg that's swollen or painful
                
Red or discolored skin on the leg
                
Pulmonary Embolism
                
Some people aren't aware of a deep vein clot until they have signs and symptoms of PE. Signs and symptoms of PE include:
                
Unexplained shortness of breath
                
Pain with deep breathing
                
Coughing up blood
                
Rapid breathing and a fast heart rate also may be signs of PE.
Question: What are the genetic changes related to infantile neuronal ceroid lipofuscinosis ?

Answer: Mutations in the PPT1 gene cause most cases of infantile NCL. The PPT1 gene provides instructions for making an enzyme called palmitoyl-protein thioesterase 1. This enzyme is active in cell compartments called lysosomes, which digest and recycle different types of molecules. Palmitoyl-protein thioesterase 1 removes certain fats called long-chain fatty acids from proteins, which probably helps break down the proteins. Palmitoyl-protein thioesterase 1 is also thought to be involved in a variety of other cell functions.  PPT1 gene mutations that cause infantile NCL decrease the production or function of palmitoyl-protein thioesterase 1. A shortage of functional enzyme impairs the removal of fatty acids from proteins. In the lysosomes, these fats and proteins accumulate as fatty substances called lipopigments. These accumulations occur in cells throughout the body, but nerve cells in the brain seem to be particularly vulnerable to the damage caused by buildup of lipopigments and the loss of enzyme function. The progressive death of cells, especially in the brain, leads to the signs and symptoms of infantile NCL.
Question: What are the genetic changes related to pyridoxal 5'-phosphate-dependent epilepsy ?

Answer: Mutations in the PNPO gene cause pyridoxal 5'-phosphate-dependent epilepsy. The PNPO gene provides instructions for producing an enzyme called pyridoxine 5'-phosphate oxidase. This enzyme is involved in the conversion (metabolism) of vitamin B6 derived from food (in the form of pyridoxine and pyridoxamine) to the active form of vitamin B6 called pyridoxal 5'-phosphate (PLP). PLP is necessary for many processes in the body including protein metabolism and the production of chemicals that transmit signals in the brain (neurotransmitters).  PNPO gene mutations result in a pyridoxine 5'-phosphate oxidase enzyme that is unable to metabolize pyridoxine and pyridoxamine, leading to a deficiency of PLP. A shortage of PLP can disrupt the function of many other proteins and enzymes that need PLP in order to be effective. It is not clear how the lack of PLP affects the brain and leads to the seizures that are characteristic of pyridoxal 5'-phosphate-dependent epilepsy.
Question: What is (are) boomerang dysplasia ?

Answer: Boomerang dysplasia is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. As a result of the limb bone abnormalities, individuals with this condition have very short arms and legs. Pronounced bowing of the upper leg bones (femurs) gives them a "boomerang" shape.  Some individuals with boomerang dysplasia have a sac-like protrusion of the brain (encephalocele). They may also have an opening in the wall of the abdomen (an omphalocele) that allows the abdominal organs to protrude through the navel. Affected individuals typically have a distinctive nose that is broad with very small nostrils and an underdeveloped partition between the nostrils (septum).  Individuals with boomerang dysplasia typically have an underdeveloped rib cage that affects the development and functioning of the lungs. As a result, affected individuals are usually stillborn or die shortly after birth from respiratory failure.
Question: What is (are) androgenetic alopecia ?

Answer: Androgenetic alopecia is a common form of hair loss in both men and women. In men, this condition is also known as male-pattern baldness. Hair is lost in a well-defined pattern, beginning above both temples. Over time, the hairline recedes to form a characteristic "M" shape. Hair also thins at the crown (near the top of the head), often progressing to partial or complete baldness.  The pattern of hair loss in women differs from male-pattern baldness. In women, the hair becomes thinner all over the head, and the hairline does not recede. Androgenetic alopecia in women rarely leads to total baldness.  Androgenetic alopecia in men has been associated with several other medical conditions including coronary heart disease and enlargement of the prostate. Additionally, prostate cancer, disorders of insulin resistance (such as diabetes and obesity), and high blood pressure (hypertension) have been related to androgenetic alopecia. In women, this form of hair loss is associated with an increased risk of polycystic ovary syndrome (PCOS). PCOS is characterized by a hormonal imbalance that can lead to irregular menstruation, acne, excess hair elsewhere on the body (hirsutism), and weight gain.
Question: What is (are) Buschke-Ollendorff syndrome ?

Answer: Buschke-Ollendorff syndrome is a hereditary disorder of connective tissues, which are tissues that provide strength and flexibility to structures throughout the body. Specifically, the condition is characterized by skin growths called connective tissue nevi and a bone abnormality known as osteopoikilosis.  Connective tissue nevi are small, noncancerous lumps on the skin. They tend to appear in childhood and are widespread in people with Buschke-Ollendorff syndrome. The most common form of these nevi are elastomas, which are made up of a type of stretchy connective tissue called elastic fibers. Less commonly, affected individuals have nevi called collagenomas, which are made up of another type of connective tissue called collagen.  Osteopoikilosis, which is from the Greek words for "spotted bones," is a skeletal abnormality characterized by small, round areas of increased bone density that appear as brighter spots on x-rays. Osteopoikilosis usually occurs near the ends of the long bones of the arms and legs, and in the bones of the hands, feet, and pelvis. The areas of increased bone density appear during childhood. They do not cause pain or other health problems.
Question: What are the genetic changes related to ZAP70-related severe combined immunodeficiency ?

Answer: As the name indicates, this condition is caused by mutations in the ZAP70 gene. The ZAP70 gene provides instructions for making a protein called zeta-chain-associated protein kinase. This protein is part of a signaling pathway that directs the development of and turns on (activates) immune system cells called T cells. T cells identify foreign substances and defend the body against infection.  The ZAP70 gene is important for the development and function of several types of T cells. These include cytotoxic T cells (CD8+ T cells), whose functions include destroying cells infected by viruses. The ZAP70 gene is also involved in the activation of helper T cells (CD4+ T cells). These cells direct and assist the functions of the immune system by influencing the activities of other immune system cells.  Mutations in the ZAP70 gene prevent the production of zeta-chain-associated protein kinase or result in a protein that is unstable and cannot perform its function. A loss of functional zeta-chain-associated protein kinase leads to the absence of CD8+ T cells and an excess of inactive CD4+ T cells. The resulting shortage of active T cells causes people with ZAP70-related SCID to be more susceptible to infection.
Question: What to do for Renal Artery Stenosis ?

Answer: - Renal artery stenosis (RAS) is the narrowing of one or both renal arteries. The renal arteries are blood vessels that carry blood to the kidneys from the aortathe main blood vessel that carries blood from the heart to arteries throughout the body.  - Renovascular hypertension (RVH) is high blood pressure caused by RAS.  - About 90 percent of RAS is caused by atherosclerosis. Most other cases of RAS are caused by fibromuscular dysplasia (FMD), which can cause blood vessels to narrow.  - RAS often has no symptoms until it becomes severe. The first symptoms of RAS are usually either high blood pressure or decreased kidney function, or both, but RAS is often overlooked as a cause of high blood pressure.  - People with RAS are at increased risk for chronic kidney disease (CKD), coronary artery disease, stroke, and peripheral vascular disease.  - Imaging tests used to diagnose RAS include duplex ultrasound, catheter angiogram, computerized tomographic angiography (CTA) scan, and magnetic resonance angiogram (MRA).  - Treatment for RAS includes lifestyle changes, medications, and surgery.
Question: Do you have information about Cocaine

Answer: Summary : Cocaine is a white powder. It can be snorted up the nose or mixed with water and injected with a needle. Cocaine can also be made into small white rocks, called crack. Crack is smoked in a small glass pipe.    Cocaine speeds up your whole body. You may feel full of energy, happy, and excited. But then your mood can change. You can become angry, nervous, and afraid that someone's out to get you. You might do things that make no sense. After the "high" of the cocaine wears off, you can "crash" and feel tired and sad for days. You also get a strong craving to take the drug again to try to feel better.    No matter how cocaine is taken, it is dangerous. Some of the most common serious problems include heart attack and stroke. You are also at risk for HIV/AIDS and hepatitis, from sharing needles or having unsafe sex. Cocaine is more dangerous when combined with other drugs or alcohol.    It is easy to lose control over cocaine use and become addicted. Then, even if you get treatment, it can be hard to stay off the drug. People who stopped using cocaine can still feel strong cravings for the drug, sometimes even years later.    NIH: National Institute on Drug Abuse
Question: What is (are) Lead Poisoning ?

Answer: Lead is a metal that occurs naturally in the earth's crust. Lead can be found in all parts of our environment. Much of it comes from human activities such as mining and manufacturing. Lead used to be in paint; older houses may still have lead paint. You could be exposed to lead by       - Eating food or drinking water that contains lead. Water pipes in older homes may contain lead.    - Working in a job where lead is used    - Using lead in a hobby, such as making stained glass or lead-glazed pottery    - Using folk remedies such as herbs or foods that contain lead       Breathing air, drinking water, eating food, or swallowing or touching dirt that contains lead can cause many health problems. Lead can affect almost every organ and system in your body. In adults, lead can increase blood pressure and cause infertility, nerve disorders, and muscle and joint pain. It can also make you irritable and affect your ability to concentrate and remember.    Lead is especially dangerous for children. A child who swallows large amounts of lead may develop anemia, severe stomachache, muscle weakness, and brain damage. Even at low levels, lead can affect a child's mental and physical growth.    Agency for Toxic Substances Disease Registry
Question: What is (are) Childhood Brain Tumors ?

Answer: Brain tumors are abnormal growths inside the skull. They are among the most common types of childhood cancers. Some are benign tumors, which aren't cancer. They can still be serious. Malignant tumors are cancerous.    Childhood brain and spinal cord tumors can cause headaches and other symptoms. However, other conditions can also cause the same symptoms. Check with a doctor if your child has any of the following problems:       - Morning headache or headache that goes away after vomiting    - Frequent nausea and vomiting    - Vision, hearing, and speech problems    - Loss of balance or trouble walking    - Unusual sleepiness    - Personality changes    - Seizures    - Increased head size in infants       The symptoms are not the same in every child.    Doctors use physical and neurological exams, lab tests, and imaging to diagnose brain tumors. Most childhood brain tumors are diagnosed and removed in surgery.    Treatment for children is sometimes different than for an adult. Long-term side effects are an important issue. The options also depend on the type of tumor and where it is. Removal of the tumor is often possible. If not, radiation, chemotherapy, or both may be used.    NIH: National Cancer Institute
Question: Do you have information about Clinical Trials

Answer: Summary : Clinical trials are research studies that test how well new medical approaches work in people. Each study answers scientific questions and tries to find better ways to prevent, screen for, diagnose, or treat a disease. Clinical trials may also compare a new treatment to a treatment that is already available.    Every clinical trial has a protocol, or action plan, for conducting the trial. The plan describes what will be done in the study, how it will be conducted, and why each part of the study is necessary. Each study has its own rules about who can take part. Some studies need volunteers with a certain disease. Some need healthy people. Others want just men or just women.    An Institutional Review Board (IRB) reviews, monitors, and approves many clinical trials. It is an independent committee of physicians, statisticians, and members of the community. Its role is to       - Make sure that the study is ethical    - Protect the rights and welfare of the participants    - Make sure that the risks are reasonable when compared to the potential benefits       In the United States, a clinical trial must have an IRB if it is studying a drug, biological product, or medical device that the Food and Drug Administration (FDA) regulates, or it is funded or carried out by the federal government.    NIH: National Institutes of Health
Question: What is (are) Neurofibromatosis ?

Answer: Neurofibromatosis is a genetic disorder of the nervous system. It mainly affects how nerve cells form and grow. It causes tumors to grow on nerves. You can get neurofibromatosis from your parents, or it can happen because of a mutation (change) in your genes. Once you have it, you can pass it along to your children. Usually the tumors are benign, but sometimes they can become cancerous.    There are three types of neurofibromatosis:        - Type 1 (NF1) causes skin changes and deformed bones. It usually starts in childhood. Sometimes the symptoms are present at birth.    - Type 2 (NF2) causes hearing loss, ringing in the ears, and poor balance. Symptoms often start in the teen years.    - Schwannomatosis causes intense pain. It is the rarest type.       Doctors diagnose the different types based on the symptoms. Genetic testing is also used to diagnose NF1 and NF2. There is no cure. Treatment can help control symptoms. Depending on the type of disease and how serious it is, treatment may include surgery to remove tumors, radiation therapy, and medicines.    NIH: National Institute of Neurological Disorders and Stroke
Question: Do you have information about Blood Transfusion and Donation

Answer: Summary : Every year, millions of people in the United States receive life-saving blood transfusions. During a transfusion, you receive whole blood or parts of blood such as       -  Red blood cells - cells that carry oxygen to and from tissues and organs    - Platelets - cells that form clots to control bleeding    - Plasma - the liquid part of the blood that helps clotting. You may need it if you have been badly burned, have liver failure or a severe infection.       Most blood transfusions go very smoothly. Some infectious agents, such as HIV, can survive in blood and infect the person receiving the blood transfusion. To keep blood safe, blood banks carefully screen donated blood. The risk of catching a virus from a blood transfusion is low.    Sometimes it is possible to have a transfusion of your own blood. During surgery, you may need a blood transfusion because of blood loss. If you are having a surgery that you're able to schedule months in advance, your doctor may ask whether you would like to use your own blood, instead of donated blood. If so, you will need to have blood drawn one or more times before the surgery. A blood bank will store your blood for your use.    NIH: National Heart, Lung, and Blood Institute
Question: Do you have information about Calcium

Answer: Summary : You have more calcium in your body than any other mineral. Calcium has many important jobs. The body stores more than 99 percent of its calcium in the bones and teeth to help make and keep them strong. The rest is throughout the body in blood, muscle and the fluid between cells. Your body needs calcium to help muscles and blood vessels contract and expand, to secrete hormones and enzymes and to send messages through the nervous system.     It is important to get plenty of calcium in the foods you eat. Foods rich in calcium include       - Dairy products such as milk, cheese, and yogurt    - Leafy, green vegetables    - Fish with soft bones that you eat, such as canned sardines and salmon    - Calcium-enriched foods such as breakfast cereals, fruit juices, soy and rice drinks, and tofu. Check the product labels.       The exact amount of calcium you need depends on your age and other factors. Growing children and teenagers need more calcium than young adults. Older women need plenty of calcium to prevent osteoporosis. People who do not eat enough high-calcium foods should take a calcium supplement.    NIH: National Institutes of Health Office of Dietary Supplements
Question: What is (are) Spondylocostal dysostosis 2 ?

Answer: Spondylocostal dysostosis is a group of conditions characterized by abnormal development of the bones in the spine and ribs. In the spine, the vertebrae are misshapen and fused. Many people with this condition have an abnormal side-to-side curvature of the spine (scoliosis). The ribs may be fused together or missing. These bone malformations lead to short, rigid necks and short midsections. Infants with spondylocostal dysostosis have small, narrow chests that cannot fully expand. This can lead to life-threatening breathing problems. Males with this condition are at an increased risk for inguinal hernia, where the diaphragm is pushed down, causing the abdomen to bulge out. There are several types of spondylocostal dysostosis. These types have similar features and are distinguished by their genetic cause and how they are inherited.  Spondylocostal dysostosis 2 is caused by mutations in the MESP2 gene. It is inherited in an autosomal recessive manner. Treatment is symptomatic and supportive and may include respiratory support and surgery to correct inguinal hernia and scoliosis.
Question: Is Juvenile retinoschisis inherited ?

Answer: How is juvenile retinoschisis inherited? Juvenile retinoschisis is inherited in an x-linked recessive pattern. The gene associated with this condition is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In 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. A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In X-linked recessive inheritance, a female with one mutated copy of the gene (mutation) in each cell is called a carrier. She can pass on the mutation, but usually does not experience signs and symptoms of the condition. Carrier women have a 50% chance of passing the mutation to their children, males who inherit the mutation will be affected; females who inherit the mutation will be carriers and will nearly always have normal vision. Carrier testing for at-risk female relatives and prenatal testing for pregnancies at increased risk are possible if the disease-causing mutation in the family is known.