umarjan11/Medical-qna huggingface dataset:
Question: What is (are) Spondylocostal dysostosis 4 ?

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 4 is caused by mutations in the HES7 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: What are the treatments for Punctate palmoplantar keratoderma type I ?

Answer: How might punctate palmoplantar keratoderma type 1 be treated? Treatment options for this condition generally include topical salicylic acid, mechanical debridement, excision, and systemic retinoids. These therapies can lead to a temporary decrease in skin thickness and softening of the skin. Unfortunately, in many cases, medical and surgical treatment for punctate keratodermas do not provide consistent or long-lasting results. In general, there has been some reported success using keratolytics such as corticosteroids, urea, salicylic acid, lactic acid, or Vitamin A. Systemic therapy using vitamin D analogues, aromatic retinoids, and 5-fluorouracil has also been used. However, individuals with successful resolution of lesions often relapse unless they are maintained on chronic low-dose therapy. These topical and systemic treatments carry a variety of side effects. Surgery (including excision and skin grafting) for punctate keratodermas has been used on lesions resistant to medical treatment, but healing after surgical treatment can be difficult. CO2 laser ablation has also been attempted and reportedly produces good results for limited areas of hyperkeratosis of the palms.
Question: What is (are) Myoclonic epilepsy with ragged red fibers ?

Answer: Myoclonic epilepsy with ragged red fibers (MERRF) is a multisystem disorder characterized by myoclonus, which is often the first symptom, followed by generalized epilepsy, ataxia, weakness, and dementia. Symptoms usually first appear in childhood or adolescence after normal early development. The features of MERRF vary widely from individual to individual, even within families. Other common findings include hearing loss, short stature, optic atrophy, and cardiomyopathy with Wolff-Parkinson-White (WPW) syndrome. The diagnosis is based on clinical features and a muscle biopsy finding of ragged red fibers (RRF). In over 80% of cases, MERRF is caused by mutations in the mitochondrial gene called MT-TK. Several other mitochondrial genes have also been reported to cause MERRF, but many of the individuals with mutations in these other genes have additional signs and symptoms. Seizures associated with MERRF are generally treated with conventional anticonvulsant therapy.  Coenzyme Q10 and L-carnitine are often used with the hope of improving mitochondrial function.
Question: Who is at risk for Heart Valve Disease? ?

Answer: Older age is a risk factor for heart valve disease. As you age, your heart valves thicken and become stiffer. Also, people are living longer now than in the past. As a result, heart valve disease has become an increasing problem.
                
People who have a history of infective endocarditis (IE), rheumatic fever, heart attack, or heart failureor previous heart valve diseasealso are at higher risk for heart valve disease. In addition, having risk factors for IE, such as intravenous drug use, increases the risk of heart valve disease.
                
You're also at higher risk for heart valve disease if you have risk factors for coronary heart disease. These risk factors include high blood cholesterol, high blood pressure, smoking, insulin resistance, diabetes, overweight or obesity, lack of physical activity, and a family history of early heart disease.
                
Some people are born with an aortic valve that has two flaps instead of three. Sometimes an aortic valve may have three flaps, but two flaps are fused together and act as one flap. This is called a bicuspid or bicommissural aortic valve. People who have this congenital condition are more likely to develop aortic heart valve disease.
Question: What are the symptoms of Asbestos-Related Lung Diseases ?

Answer: The signs and symptoms of asbestos-related lung diseases vary. They depend on which disease you have and how much it has damaged your lungs. Signs and symptoms may not appear for 10 to 40 or more years after exposure to asbestos.
                
If you have pleural plaque, you may not have any signs or symptoms. Pleural effusion may cause pain on one side of the chest. Both conditions often are found with a chest x ray. These conditions may occur earlier than other asbestos-related lung diseases.
                
The main symptom of asbestosis is shortness of breath with physical exertion. You also may have a dry cough and feel tired. If your doctor listens to your lungs with a stethoscope, he or she may hear a crackling sound when you breathe in.
                
The symptoms of lung cancer may include a worsening cough or a cough that won't go away, trouble breathing, ongoing chest pain, and coughing up blood. Other symptoms of lung cancer include frequent lung infections, fatigue (tiredness), and weight loss without a known cause.
                
Symptoms of mesothelioma include shortness of breath and chest pain due to pleural effusion.
Question: What is (are) Hypotonia ?

Answer: Hypotonia is a medical term used to describe decreased muscle tone. Normally, even when relaxed, muscles have a very small amount of contraction that gives them a springy feel and provides some resistance to passive movement. It is not the same as muscle weakness, although the two conditions can co-exist. Muscle tone is regulated by signals that travel from the brain to the nerves and tell the muscles to contract. Hypotonia can happen from damage to the brain, spinal cord, nerves, or muscles. The damage can be the result of trauma, environmental factors, or genetic, muscle, or central nervous system disorders. For example, it can be seen in Down syndrome, muscular dystrophy, cerebral palsy, Prader-Willi syndrome, myotonic dystrophy, and Tay-Sachs disease. Sometimes it may not be possible to find what causes the hypotonia. Infants with hypotonia have a floppy quality or rag doll appearance because their arms and legs hang by their sides and they have little or no head control. Other symptoms of hypotonia include problems with mobility and posture, breathing and speech difficulties, ligament and joint laxity, and poor reflexes. Hypotonia does not affect intellect. The opposite of hypotonia is hypertonia.
Question: What is (are) spastic paraplegia type 8 ?

Answer: Spastic paraplegia type 8 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve only the nerves and muscles controlling the lower limbs and bladder, whereas the complex types also have significant involvement of the nervous system in other parts of the body. Spastic paraplegia type 8 is a pure hereditary spastic paraplegia.  Like all hereditary spastic paraplegias, spastic paraplegia type 8 involves spasticity of the leg muscles and muscle weakness. People with this condition can also experience exaggerated reflexes (hyperreflexia), a decreased ability to feel vibrations, muscle wasting (amyotrophy), and reduced bladder control. The signs and symptoms of spastic paraplegia type 8 usually appear in early to mid-adulthood. As the muscle weakness and spasticity get worse, some people may need the aid of a cane, walker, or wheelchair.
Question: What is (are) neurofibromatosis type 2 ?

Answer: Neurofibromatosis type 2 is a disorder characterized by the growth of noncancerous tumors in the nervous system. The most common tumors associated with neurofibromatosis type 2 are called vestibular schwannomas or acoustic neuromas. These growths develop along the nerve that carries information from the inner ear to the brain (the auditory nerve). Tumors that occur on other nerves are also commonly found with this condition.  The signs and symptoms of neurofibromatosis type 2 usually appear during adolescence or in a person's early twenties, although they can begin at any age. The most frequent early symptoms of vestibular schwannomas are hearing loss, ringing in the ears (tinnitus), and problems with balance. In most cases, these tumors occur in both ears by age 30. If tumors develop elsewhere in the nervous system, signs and symptoms vary according to their location. Complications of tumor growth can include changes in vision, numbness or weakness in the arms or legs, and fluid buildup in the brain. Some people with neurofibromatosis type 2 also develop clouding of the lens (cataracts) in one or both eyes, often beginning in childhood.
Question: What are the genetic changes related to Meier-Gorlin syndrome ?

Answer: Meier-Gorlin syndrome can be caused by mutations in one of several genes. Each of these genes, ORC1, ORC4, ORC6, CDT1, and CDC6, provides instructions for making one of a group of proteins known as the pre-replication complex. This complex regulates initiation of the copying (replication) of DNA before cells divide. Specifically, the pre-replication complex attaches (binds) to certain regions of DNA known as origins of replication, allowing copying of the DNA to begin at that location. This tightly controlled process, called replication licensing, helps ensure that DNA replication occurs only once per cell division and is required for cells to divide.  Mutations in any one of these genes impair formation of the pre-replication complex and disrupt replication licensing; however, it is not clear how a reduction in replication licensing leads to Meier-Gorlin syndrome. Researchers speculate that such a reduction delays the cell division process, which impairs growth of the bones and other tissues during development. Some research suggests that some of the pre-replication complex proteins have additional functions, impairment of which may contribute to features of Meier-Gorlin syndrome, such as delayed development of the kneecaps and ears.
Question: What are the genetic changes related to Leber congenital amaurosis ?

Answer: Leber congenital amaurosis can result from mutations in at least 14 genes, all of which are necessary for normal vision. These genes play a variety of roles in the development and function of the retina. For example, some of the genes associated with this disorder are necessary for the normal development of light-detecting cells called photoreceptors. Other genes are involved in phototransduction, the process by which light entering the eye is converted into electrical signals that are transmitted to the brain. Still other genes play a role in the function of cilia, which are microscopic finger-like projections that stick out from the surface of many types of cells. Cilia are necessary for the perception of several types of sensory input, including vision.  Mutations in any of the genes associated with Leber congenital amaurosis disrupt the development and function of the retina, resulting in early vision loss. Mutations in the CEP290, CRB1, GUCY2D, and RPE65 genes are the most common causes of the disorder, while mutations in the other genes generally account for a smaller percentage of cases. In about 30 percent of all people with Leber congenital amaurosis, the cause of the disorder is unknown.
Question: Is Jacobsen syndrome inherited ?

Answer: Most cases of Jacobsen 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, although they can pass the chromosome deletion to their children.  Between 5 and 10 percent of people with Jacobsen syndrome inherit the chromosome abnormality from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which a segment from chromosome 11 has traded places with a segment from another chromosome. In a balanced translocation, 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 some missing genetic material and some extra genetic material. Individuals with Jacobsen syndrome who inherit an unbalanced translocation are missing genetic material from the end of the long arm of chromosome 11 and have extra genetic material from another chromosome. These chromosomal changes result in the health problems characteristic of this disorder.
Question: How to prevent Abdominal Adhesions ?

Answer: Abdominal adhesions are diffi cult to prevent; however, certain surgical techniques can minimize abdominal adhesions.
                
Laparoscopic surgery decreases the potential for abdominal adhesions because several tiny incisions are made in the lower abdomen instead of one large incision. The surgeon inserts a laparoscopea thin tube with a tiny video camera attachedinto one of the small incisions. The camera sends a magnified image from inside the body to a video monitor. Patients will usually receive general anesthesia during this surgery.
                
If laparoscopic surgery is not possible and a large abdominal incision is required, at the end of surgery a special fi lmlike material can be inserted between organs or between the organs and the abdominal incision. The fi lmlike material, which looks similar to wax paper and is absorbed by the body in about a week, hydrates organs to help prevent abdominal adhesions.
                
Other steps taken during surgery to reduce abdominal adhesions include
                
- using starch- and latex-free gloves  - handling tissues and organs gently  - shortening surgery time   - using moistened drapes and swabs  - occasionally applying saline solution
Question: What is (are) Polycystic Kidney Disease ?

Answer: Autosomal recessive PKD is a rare genetic disorder that affects the liver as well as the kidneys. The signs of autosomal recessive PKD frequently appear in the earliest months of life, even in the womb, so health care providers often call it infantile PKD. In an autosomal recessive disorder, the child has to inherit the gene mutation from both parents to have an increased likelihood for the disorder. The chance of a child inheriting autosomal recessive mutations from both parents with a gene mutation is 25 percent, or one in four. If only one parent carries the mutated gene, the child will not get the disorder, although the child may inherit the gene mutation. The child is a carrier of the disorder and can pass the gene mutation to the next generation. Genetic testing can show whether a parent or child is a carrier of the mutated gene. Autosomal recessive disorders do not typically appear in every generation of an affected family.
                
The following chart shows the chance of inheriting an autosomal recessive mutation from parents who both carry the mutated gene:
                

                

                
Read more about how people inherit genetic conditions at the NLMs Genetics Home Reference.
Question: How to diagnose Creating a Family Health History ?

Answer: Finding out your test results can affect you emotionally. Learning that you are someone in your family has or is at risk for a disease can be scary. Some people can also feel guilty, angry, anxious, or depressed when they find out their results. Covering the costs of testing can also be a challenge. Genetic testing can cost anywhere from less than $100 to more than $2,000. Health insurance companies may cover part or all of the cost of testing. Genetic testing cannot tell you everything about inherited diseases. For example, a positive result does not always mean you will develop a disease, and it is hard to predict how severe symptoms may be. Geneticists and genetic counselors can talk more specifically about what a particular test will or will not tell you, and can help you decide whether to undergo testing. Many people are worried about discrimination based on their genetic test results. In 2008, Congress enacted the Genetic Information Nondiscrimination Act (GINA) to protect people from discrimination by their health insurance provider or employer. GINA does not apply to long-term care, disability, or life insurance providers. (For more information about genetic discrimination and GINA, see  The Genetic Information Nondiscrimination Act of 2008.
Question: what research (or clinical trials) is being done for Liver (Hepatocellular) Cancer ?

Answer: Cancer prevention clinical trials are used to study ways to prevent cancer.
                    Cancer prevention clinical trials are used to study ways to lower the risk of developing certain types of cancer. Some cancer prevention trials are conducted with healthy people who have not had cancer but who have an increased risk for cancer. Other prevention trials are conducted with people who have had cancer and are trying to prevent another cancer of the same type or to lower their chance of developing a new type of cancer. Other trials are done with healthy volunteers who are not known to have any risk factors for cancer.    The purpose of some cancer prevention clinical trials is to find out whether actions people take can prevent cancer. These may include eating fruits and vegetables, exercising, quitting smoking, or taking certain medicines, vitamins, minerals, or food supplements.
                
                
                    New ways to prevent liver cancer are being studied in clinical trials.
                    Clinical trials are taking place in many parts of the country. Information about clinical trials can be found in the Clinical Trials section of the NCI website. Check NCI's list of cancer clinical trials for liver cancer prevention trials that are now accepting patients.
Question: What is (are) Chronic Myelomonocytic Leukemia ?

Answer: Key Points
                    - Chronic myelomonocytic leukemia is a disease in which too many myelocytes and monocytes (immature white blood cells) are made in the bone marrow.    - Older age and being male increase the risk of chronic myelomonocytic leukemia.    - Signs and symptoms of chronic myelomonocytic leukemia include fever, weight loss, and feeling very tired.    - Certain factors affect prognosis (chance of recovery) and treatment options.
                
                
                    Chronic myelomonocytic leukemia is a disease in which too many myelocytes and monocytes (immature white blood cells) are made in the bone marrow.
                    In chronic myelomonocytic leukemia (CMML), the body tells too many blood stem cells to become two types of white blood cells called myelocytes and monocytes. Some of these blood stem cells never become mature white blood cells. These immature white blood cells are called blasts. Over time, the myelocytes, monocytes, and blasts crowd out the red blood cells and platelets in the bone marrow. When this happens, infection, anemia, or easy bleeding may occur.
Question: What is (are) Meniere's Disease ?

Answer: Meniere's disease is a disorder of the inner ear. It can cause severe dizziness, a roaring sound in your ears called tinnitus, hearing loss that comes and goes and the feeling of ear pressure or pain. It usually affects just one ear. It is a common cause of hearing loss.     Attacks of dizziness may come on suddenly or after a short period of tinnitus or muffled hearing. Some people have single attacks of dizziness once in a while. Others may have many attacks close together over several days. Some people with Meniere's disease have "drop attacks" during which the dizziness is so bad they lose their balance and fall.    Scientists don't yet know the cause. They think that it has to do with the fluid levels or the mixing of fluids in the canals of your inner ear. Doctors diagnose it based on a physical exam and your symptoms. A hearing test can check to see how it has affected your hearing.    There is no cure. Treatments include medicines to control dizziness, limiting salt in your diet, and taking water pills. A device that fits into the outer ear and delivers air pulses to the middle ear can help. Severe cases may require surgery.    NIH: National Institute on Deafness and Other Communication Disorders
Question: What is (are) Cirrhosis ?

Answer: Cirrhosis is scarring of the liver. Scar tissue forms because of injury or long-term disease. Scar tissue cannot do what healthy liver tissue does - make protein, help fight infections, clean the blood, help digest food and store energy. Cirrhosis can lead to        - Easy bruising or bleeding, or nosebleeds    - Swelling of the abdomen or legs     - Extra sensitivity to medicines    - High blood pressure in the vein entering the liver    - Enlarged veins called varices in the esophagus and stomach. Varices can bleed suddenly.    -  Kidney failure    - Jaundice    - Severe itching    - Gallstones       A small number of people with cirrhosis get liver cancer.    Your doctor will diagnose cirrhosis with blood tests, imaging tests, or a biopsy.    Cirrhosis has many causes. In the United States, the most common causes are chronic alcoholism and hepatitis. Nothing will make the scar tissue disappear, but treating the cause can keep it from getting worse. If too much scar tissue forms, you may need to consider a liver transplant.     NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Question: What is (are) Pleural Disorders ?

Answer: Your pleura is a large, thin sheet of tissue that wraps around the outside of your lungs and lines the inside of your chest cavity. Between the layers of the pleura is a very thin space. Normally it's filled with a small amount of fluid. The fluid helps the two layers of the pleura glide smoothly past each other as your lungs breathe air in and out.    Disorders of the pleura include       - Pleurisy - inflammation of the pleura that causes sharp pain with breathing    - Pleural effusion - excess fluid in the pleural space    - Pneumothorax - buildup of air or gas in the pleural space    - Hemothorax - buildup of blood in the pleural space       Many different conditions can cause pleural problems. Viral infection is the most common cause of pleurisy. The most common cause of pleural effusion is congestive heart failure. Lung diseases, like COPD, tuberculosis, and acute lung injury, cause pneumothorax. Injury to the chest is the most common cause of hemothorax. Treatment focuses on removing fluid, air, or blood from the pleural space, relieving symptoms, and treating the underlying condition.    NIH: National Heart, Lung, and Blood Institute