umarjan11/Medical-qna huggingface dataset:
Question: What is (are) cystinuria ?

Answer: Cystinuria is a condition characterized by the buildup of the amino acid cystine, a building block of most proteins, in the kidneys and bladder. As the kidneys filter blood to create urine, cystine is normally absorbed back into the bloodstream. People with cystinuria cannot properly reabsorb cystine into their bloodstream, so the amino acid accumulates in their urine.  As urine becomes more concentrated in the kidneys, the excess cystine forms crystals. Larger crystals become stones that may lodge in the kidneys or in the bladder. Sometimes cystine crystals combine with calcium molecules in the kidneys to form large stones. These crystals and stones can create blockages in the urinary tract and reduce the ability of the kidneys to eliminate waste through urine. The stones also provide sites where bacteria may cause infections.
Question: Is catecholaminergic polymorphic ventricular tachycardia inherited ?

Answer: When CPVT results from mutations in the RYR2 gene, it has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. In about half of cases, an affected person inherits an RYR2 gene mutation from one affected parent. The remaining cases result from new mutations in the RYR2 gene and occur in people with no history of the disorder in their family.  When CPVT is caused by mutations in the CASQ2 gene, the condition has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means that 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.
Question: What is (are) atelosteogenesis type 2 ?

Answer: Atelosteogenesis type 2 is a severe disorder of cartilage and bone development. Infants born with this condition have very short arms and legs, a narrow chest, and a prominent, rounded abdomen. This disorder is also characterized by an opening in the roof of the mouth (a cleft palate), distinctive facial features, an inward- and upward-turning foot (clubfoot), and unusually positioned thumbs (hitchhiker thumbs).  The signs and symptoms of atelosteogenesis type 2 are similar to those of another skeletal disorder called diastrophic dysplasia; however, atelosteogenesis type 2 is typically more severe. As a result of serious health problems, infants with this disorder are usually stillborn or die soon after birth from respiratory failure. Some infants, however, have lived for a short time with intensive medical support.
Question: What causes What I need to know about Cirrhosis ?

Answer: Causes of cirrhosis include
                
- heavy alcohol use  - some drugs, medicines, and harmful chemicals  - infections  - chronic hepatitis B, C, or Dviral infections that attack the liver  - autoimmune hepatitis, which causes the bodys immune system to destroy liver cells  - nonalcoholic fatty liver disease, which is often caused by obesity  - diseases that damage or destroy bile ductstubes that carry bile from the liver
                
Some inherited diseasesdiseases that are passed from parent to childcan cause cirrhosis:
                
- hemochromatosis, a disease that causes iron to collect in the liver  - Wilson disease, a condition that causes copper to build up in the liver  - porphyria, a disorder that affects the skin, bone marrow, and liver
Question: What are the treatments for Alcohol Use and Older Adults ?

Answer: Talking about alcohol use with a professional is beneficial to many people. Counseling  either one-on-one or in groups  can help develop skills to stop or reduce drinking, develop reachable goals, manage the triggers that lead to alcohol misuse and build a strong social support system that supports healthy habits. There are many kinds of counseling approaches. - cognitive behavior therapy   - motivational enhancement therapy  - marital and family counseling  - brief interventions cognitive behavior therapy motivational enhancement therapy marital and family counseling brief interventions Learn more about each type of behavioral therapy.  Counseling can be provided by - primary care doctors   - psychiatrists  -  psychologists  -  social workers  - certified alcohol counselors.  primary care doctors psychiatrists psychologists social workers certified alcohol counselors.
Question: What is (are) Heart Diseases ?

Answer: If you're like most people, you think that heart disease is a problem for others. But heart disease is the number one killer in the U.S. It is also a major cause of disability. There are many different forms of heart disease. The most common cause of heart disease is narrowing or blockage of the coronary arteries, the blood vessels that supply blood to the heart itself. This is called coronary artery disease and happens slowly over time. It's the major reason people have heart attacks.     Other kinds of heart problems may happen to the valves in the heart, or the heart may not pump well and cause heart failure. Some people are born with heart disease.    You can help reduce your risk of heart disease by taking steps to control factors that put you at greater risk:       -  Control your blood pressure    -  Lower your cholesterol    -  Don't smoke    -  Get enough exercise       NIH: National Heart, Lung, and Blood Institute
Question: What is (are) Liver Cancer ?

Answer: Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. Primary liver cancer starts in the liver. Metastatic liver cancer starts somewhere else and spreads to your liver.     Risk factors for primary liver cancer include        - Having hepatitis B or C    - Heavy alcohol use    - Having cirrhosis, or scarring of the liver    - Having hemochromatosis, an iron storage disease    - Obesity and diabetes       Symptoms can include a lump or pain on the right side of your abdomen and yellowing of the skin. However, you may not have symptoms until the cancer is advanced. This makes it harder to treat. Doctors use tests that examine the liver and the blood to diagnose liver cancer. Treatment options include surgery, radiation, chemotherapy, or liver transplantation.     NIH: National Cancer Institute
Question: What is (are) Kidney Failure ?

Answer: Healthy kidneys clean your blood by removing excess fluid, minerals, and wastes. They also make hormones that keep your bones strong and your blood healthy. But if the kidneys are damaged, they don't work properly. Harmful wastes can build up in your body. Your blood pressure may rise. Your body may retain excess fluid and not make enough red blood cells. This is called kidney failure.    If your kidneys fail, you need treatment to replace the work they normally do. The treatment options are dialysis or a kidney transplant. Each treatment has benefits and drawbacks. No matter which treatment you choose, you'll need to make some changes in your life, including how you eat and plan your activities. But with the help of healthcare providers, family, and friends, most people with kidney failure can lead full and active lives.    NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Question: What is (are) Pancreatic Diseases ?

Answer: The pancreas is a gland behind your stomach and in front of your spine. It produces juices that help break down food and hormones that help control blood sugar levels. Problems with the pancreas can lead to many health problems. These include       - Pancreatitis, or inflammation of the pancreas: This happens when digestive enzymes start digesting the pancreas itself    -  Pancreatic cancer    -  Cystic fibrosis, a genetic disorder in which thick, sticky mucus can also block tubes in your pancreas       The pancreas also plays a role in diabetes. In type 1 diabetes, the beta cells of the pancreas no longer make insulin because the body's immune system has attacked them. In  type 2 diabetes, the pancreas loses the ability to secrete enough insulin in response to meals.
Question: Do you have information about Teen Development

Answer: Summary : As a teenager, you go through many physical, mental, emotional, and social changes. The biggest change is puberty, the process of becoming sexually mature. It usually happens between ages 10 and 14 for girls and ages 12 and 16 for boys. As your body changes, you may have questions about sexual health.    During this time, you start to develop your own unique personality and opinions. Some changes that you might notice include       - Increased independence from your parents    - More concerns about body image and clothes    - More influence from peers    - Greater ability to sense right and wrong       All of these changes can sometimes seem overwhelming. Some sadness or moodiness can be normal. But feeling very sad, hopeless, or worthless could be warning signs of a mental health problem. If you need help, talk to your parents, school counselor, or health care provider.    Centers for Disease Control and Prevention
Question: How to diagnose Multicentric Castleman Disease ?

Answer: How is multicentric Castleman disease diagnosed? The signs and symptoms of multicentric Castleman disease (MCD) are often nonspecific and blamed on other, more common conditions. However, if MCD is suspected, the following tests may be recommended to help establish the diagnosis and rule out other conditions that cause similar features: Blood tests can be ordered to evaluate the levels of Interleukin-6 (IL-6) and other substances in the body, which can be elevated in people with MCD. They can also be helpful in ruling out other autoimmune conditions and infections that are associated with similar signs and symptoms Imaging studies (such as a CT scan, PET scan, MRI scan, and/or ultrasound) can help identify enlarged lymph node(s) and other health problems A biopsy of affected tissue, often a lymph node, is usually recommended to confirm the diagnosis
Question: What is (are) Ring chromosome 20 ?

Answer: Ring chromosome 20 is a chromosome abnormality that affects the development and function of the brain. People with ring chromosome 20 often have recurrent seizures or epilepsy. Other symptoms might include intellectual disability, behavioral difficulties, growth delay, short stature, a small head (microcephaly), and characteristic facial features. Ring chromosome 20 is caused by an abnormal chromosome known as a ring chromosome 20 or r(20). A ring chromosome is a circular structure that occurs when a chromosome breaks in two places and its broken ends fuse together. Ring chromosome 20 is usually not inherited. It almost always occurs by chance during the formation of reproductive cells (eggs or sperm) or in early embryonic development. Treatment for ring chromosome 20 is focused on management of seizures and accommodations for learning.
Question: What is (are) Greig cephalopolysyndactyly syndrome ?

Answer: Greig cephalopolysyndactyly syndrome (GCPS) is a congenital disorder that affects development of the limbs, head, and face. Findings might include an extra finger or toe (polydactyly), fusion of the skin between the fingers or toes (syndactyly), widely spaced eyes (ocular hypertelorism), and an abnormally large head size (macrocephaly).The features of this syndrome are highly variable, ranging from polydactyly and syndactyly of the upper and/or lower limbs to seizure, hydrocephalus , and intellectual disability. Progression of GCPS is dependent on severity. Greig cephalopolysyndactyly syndrome is caused by mutations in the GLI3 gene. This condition is inherited in an autosomal dominant pattern. Treatment is symptomatic.
Question: What is (are) Mitochondrial DNA-associated Leigh syndrome ?

Answer: Mitochondrial DNA-associated Leigh syndrome is a progressive brain disorder that usually appears in infancy or early childhood. Affected children may experience vomiting, seizures, delayed development, muscle weakness, and problems with movement. Heart disease, kidney problems, and difficulty breathing can also occur in people with this disorder. Mitochondrial DNA-associated Leigh syndrome is a subtype of Leigh syndrome and is caused by changes in mitochondrial DNA. Mutations in at least 11 mitochondrial genes have been found to cause mtDNA-associated Leigh syndrome. This condition has an inheritance pattern known as maternal or mitochondrial inheritance. Because mitochondria can be passed from one generation to the next only through egg cells (not through sperm cells), only females pass mitochondrial DNA-associated Leigh syndrome to their children.
Question: What is (are) Osteogenesis imperfecta ?

Answer: Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. People with this condition have bones that break easily, often from little or no trauma. Severity varies among affected people. Multiple fractures are common, and in severe cases, can even occur before birth. Milder cases may involve only a few fractures over a person's lifetime. People with OI also have dental problems (dentinogenesis imperfecta) and hearing loss in adulthood. Other features may include muscle weakness, loose joints, and skeletal malformations. There are various recognized forms of OI which are distinguished by their features and genetic causes. Depending on the genetic cause, OI may be inherited in an autosomal dominant (more commonly) or autosomal recessive manner. Treatment is supportive and aims to decrease the number of fractures and disabilities.
Question: What are the treatments for Meesmann corneal dystrophy ?

Answer: How might Meesmann corneal dystrophy be treated? Treatment is usually not needed unless a person is experiencing symptoms. Most people only need lubricating eye drops. If symptoms are more severe, therapeutic contact lenses or cycloplegic eye drops may be used for severe sensitivity to light (photophobia). Hypertonic saline may be given if symptoms get worse when a person wakes up. Surgical procedures are sometimes tried when these treatments do not help, and may include epithelial debridement, or keratectomy. There is a high risk of recurrence with these procedures. Researchers are also evaluating a form of gene therapy called RNA interference (RNAi) which is also called therapeutic siRNA. This therapy may be able to silence the mutated gene that causes Meesman corneal dystrophy.
Question: What is (are) Tetralogy of Fallot ?

Answer: Tetralogy of Fallot is a complex congenital heart defect characterized by a large ventricular septal defect (hole between the right and left ventricles), pulmonary stenosis (narrowing of the valve and artery that connect the heart with the lungs), an overriding aorta (the aorta - the artery that carries oxygen-rich blood to the body - is shifted over the right ventricle and ventricular septal defect, instead of coming out only from the left ventricle), and right ventricular hypertrophy (the muscle of the right ventricle is thicker than usual). Tetralogy of Fallot causes low oxygen levels in the blood, which can lead to cyanosis (a bluish-purple color to the skin). The cause of this condition is unknown. Treatment involves surgery to repair the heart defects. Sometimes more than one surgery is needed.
Question: Is Fuchs endothelial corneal dystrophy inherited ?

Answer: How is Fuchs endothelial corneal dystrophy inherited? The inheritance of Fuchs dystrophy is not straight forward. In some cases, Fuchs dystrophy appears to be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. When this condition is caused by a mutation in the COL8A2 gene (which is the early-onset form of the disease), it is inherited in an autosomal dominant pattern. In addition, an autosomal dominant inheritance pattern is seen in some situations in which the condition is caused by changes in an unknown gene. However, in many cases, the inheritance pattern is unknown. Some cases result from new mutations in a gene and occur in people with no history of the disorder in their family. Due to the complex nature of the inheritance of this condition, we strongly recommend you discuss your concerns with a genetics professional.
Question: What is (are) Hyperparathyroidism-jaw tumor syndrome ?

Answer: Hyperparathyroidism-jaw tumor syndrome is an inherited condition characterized by overactivity of the parathyroid glands (hyperparathyroidism), which regulate the body's use of calcium. In people with this condition, hyperparathyroidism is caused by benign tumors (adenomas) that form in the parathyroid glands. About 15 percent of people with this condition develop a cancerous tumor called parathyroid carcinoma. About 25 to 50 percent of affected individuals can also develop a benign tumor called a fibroma in the jaw. Other benign or cancerous tumors can also develop, including tumors of the uterus in women; benign kidney cysts; and rarely, Wilms tumor. This condition is caused by mutations in the CDC73 gene and is inherited in an autosomal dominant fashion.
Question: What causes Hereditary spherocytosis ?

Answer: What causes hereditary spherocytosis? Hereditary spherocytosis may be caused by mutations in any one of several genes. The mutations that cause the condition result in the formation of spherical, overly rigid, misshapen red blood cells. The misshapen red blood cells, called spherocytes, are removed from circulation and taken to the spleen for destruction. Within the spleen, the red blood cells break down (undergo hemolysis). The shortage of red blood cells in the blood circulation and the abundance of cells in the spleen are responsible for the signs and symptoms of this condition.  Mutations in the ANK1 gene are responsible for about half of all cases of hereditary spherocytosis. The other genes associated with hereditary spherocytosis account for a smaller percentage of cases and include the EPB42, SLC4A1, SPTA1, and SPTB genes.
Question: How to prevent Endocarditis ?

Answer: If you're at risk for infective endocarditis (IE), you can take steps to prevent the infection and its complications.
                
Be alert to the signs and symptoms of IE. Contact your doctor right away if you have any of these signs or symptoms, especially a persistent fever or unexplained fatigue (tiredness).
                
Brush and floss your teeth regularly, and have regular dental checkups. Germs from a gum infection can enter your bloodstream.
                
Avoid body piercing, tattoos, and other procedures that may allow germs to enter your bloodstream.
                
Research shows that not everyone at risk for IE needs to take antibiotics before routine dental exams and certain other dental and medical procedures.
                
Let your health care providers, including your dentist, know if you're at risk for IE. They can tell you whether you need antibiotics before exams and procedures.
Question: How to prevent Heart Valve Disease ?

Answer: To prevent heart valve disease caused by rheumatic fever, see your doctor if you have signs of a strep infection. These signs include a painful sore throat, fever, and white spots on your tonsils. If you do have a strep infection, be sure to take all medicines prescribed to treat it. Prompt treatment of strep infections can prevent rheumatic fever, which damages the heartvalves.
                
Its possible that exercise, a heart-healthy diet, and medicines that lower cholesterol might prevent aortic stenosis (thickening and stiffening of the aortic valve). Researchers continue to study this possibility.
                
Heart-healthy eating, physical activity, other heart-healthy lifestyle changes, and medicines aimed at preventing a heart attack, high blood pressure, or heart failure also may help prevent heart valve disease.
Question: What is the outlook for Stroke ?

Answer: Although stroke is a disease of the brain, it can affect the entire body. A common disability that results from stroke is complete paralysis on one side of the body, called hemiplegia. A related disability that is not as debilitating as paralysis is one-sided weakness or hemiparesis. Stroke may cause problems with thinking, awareness, attention, learning, judgment, and memory. Stroke survivors often have problems understanding or forming speech. A stroke can lead to emotional problems. Stroke patients may have difficulty controlling their emotions or may express inappropriate emotions. Many stroke patients experience depression. Stroke survivors may also have numbness or strange sensations. The pain is often worse in the hands and feet and is made worse by movement and temperature changes, especially cold temperatures.
                
Recurrent stroke is frequent; about 25 percent of people who recover from their first stroke will have another stroke within 5 years.
Question: What are the treatments for Pompe Disease ?

Answer: Individuals with Pompe disease are best treated by a team of specialists (such as cardiologist, neurologist, and respiratory therapist) knowledgeable about the disease, who can offer supportive and symptomatic care. The discovery of the GAA gene has led to rapid progress in understanding the biological mechanisms and properties of the GAA enzyme. As a result, an enzyme replacement therapy has been developed that has shown, in clinical trials with infantile-onset patients, to decrease heart size, maintain normal heart function, improve muscle function, tone, and strength, and reduce glycogen accumulation. A drug called alglucosidase alfa (Myozyme), has received FDA approval for the treatment of infants and children with Pompe disease. Another algluosidase alfa drug, Lumizyme, has been approved for late-onset (non-infantile) Pompe disease.
Question: What are the genetic changes related to short QT syndrome ?

Answer: Mutations in the KCNH2, KCNJ2, and KCNQ1 genes can cause short QT syndrome. These genes provide instructions for making channels that transport positively charged atoms (ions) of potassium out of cells. In cardiac muscle, these ion channels play critical roles in maintaining the heart's normal rhythm. Mutations in the KCNH2, KCNJ2, or KCNQ1 gene increase the activity of the channels, which enhances the flow of potassium ions across the membrane of cardiac muscle cells. This change in ion transport alters the electrical activity of the heart and can lead to the abnormal heart rhythms characteristic of short QT syndrome.  Some affected individuals do not have an identified mutation in the KCNH2, KCNJ2, or KCNQ1 gene. Changes in other genes that have not been identified may cause the disorder in these cases.
Question: What is (are) Jackson-Weiss syndrome ?

Answer: Jackson-Weiss syndrome is a genetic disorder characterized by foot abnormalities and the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.  Many of the characteristic facial features of Jackson-Weiss syndrome result from premature fusion of the skull bones. Abnormal growth of these bones leads to a misshapen skull, widely spaced eyes, and a bulging forehead.  Foot abnormalities are the most consistent features of Jackson-Weiss syndrome. The first (big) toes are short and wide, and they bend away from the other toes. Additionally, the bones of some toes may be fused together (syndactyly) or abnormally shaped. The hands are almost always normal.  People with Jackson-Weiss syndrome usually have normal intelligence and a normal life span.