umarjan11/Medical-qna huggingface dataset:
Question: what research (or clinical trials) is being done for Moyamoya Disease ?

Answer: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS conducts and supports neurological research aimed at understanding why diseases develop in the brain, and that focus on finding ways to prevent, treat, or cure them.Anti-angiogenic therapy uses drugs that either activate and promote cell growth or directly block the growing blood vessel cells. NINDS-funded researchers are testing the anti-angiogenic drug Apo-Timop, part of a class of drugs called beta-blockers, which may lead to the development of new anti-angiogenics for people with vascular malformations. In other research, Other NINDS-funded research hopes to improve the understanding of this disease by determining whether infections injure blood vessels and thereby predispose children to stroke. It will also determine causes of recurrence, a crucial step toward developing ways to prevent repeated strokes in children.
Question: What are the genetic changes related to hepatic lipase deficiency ?

Answer: Hepatic lipase deficiency is caused by mutations in the LIPC gene. This gene provides instructions for making an enzyme called hepatic lipase. This enzyme is produced by liver cells and released into the bloodstream where it helps convert very low-density lipoproteins (VLDLs) and intermediate-density lipoproteins (IDLs) to LDLs. The enzyme also assists in transporting HDLs that carry cholesterol and triglycerides from the blood to the liver, where the HDLs deposit these fats so they can be redistributed to other tissues or removed from the body.  LIPC gene mutations prevent the release of hepatic lipase from the liver or decrease the enzyme's activity in the bloodstream. As a result, VLDLs and IDLs are not efficiently converted into LDLs, and HDLs carrying cholesterol and triglycerides remain in the bloodstream. It is unclear what effect this change in lipid levels has on people with hepatic lipase deficiency.
Question: What is (are) Smith-Lemli-Opitz syndrome ?

Answer: Smith-Lemli-Opitz syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by distinctive facial features, small head size (microcephaly), intellectual disability or learning problems, and behavioral problems. Many affected children have the characteristic features of autism, a developmental condition that affects communication and social interaction. Malformations of the heart, lungs, kidneys, gastrointestinal tract, and genitalia are also common. Infants with Smith-Lemli-Opitz syndrome have weak muscle tone (hypotonia), experience feeding difficulties, and tend to grow more slowly than other infants. Most affected individuals have fused second and third toes (syndactyly), and some have extra fingers or toes (polydactyly).  The signs and symptoms of Smith-Lemli-Opitz syndrome vary widely. Mildly affected individuals may have only minor physical abnormalities with learning and behavioral problems. Severe cases can be life-threatening and involve profound intellectual disability and major physical abnormalities.
Question: What are the treatments for hereditary hemorrhagic telangiectasia ?

Answer: These resources address the diagnosis or management of hereditary hemorrhagic telangiectasia:  - Gene Review: Gene Review: Hereditary Hemorrhagic Telangiectasia  - Genetic Testing Registry: Hereditary hemorrhagic telangiectasia type 2  - Genetic Testing Registry: Hereditary hemorrhagic telangiectasia type 3  - Genetic Testing Registry: Hereditary hemorrhagic telangiectasia type 4  - Genetic Testing Registry: Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome  - Genetic Testing Registry: Osler hemorrhagic telangiectasia syndrome  - MedlinePlus Encyclopedia: Osler-Weber-Rendu syndrome   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 are the genetic changes related to ataxia-telangiectasia ?

Answer: Mutations in the ATM gene cause ataxia-telangiectasia. The ATM gene provides instructions for making a protein that helps control cell division and is involved in DNA repair. This protein plays an important role in the normal development and activity of several body systems, including the nervous system and immune system. The ATM protein assists cells in recognizing damaged or broken DNA strands and coordinates DNA repair by activating enzymes that fix the broken strands. Efficient repair of damaged DNA strands helps maintain the stability of the cell's genetic information.  Mutations in the ATM gene reduce or eliminate the function of the ATM protein. Without this protein, cells become unstable and die. Cells in the part of the brain involved in coordinating movements (the cerebellum) are particularly affected by loss of the ATM protein. The loss of these brain cells causes some of the movement problems characteristic of ataxia-telangiectasia. Mutations in the ATM gene also prevent cells from responding correctly to DNA damage, which allows breaks in DNA strands to accumulate and can lead to the formation of cancerous tumors.
Question: Is primary macronodular adrenal hyperplasia inherited ?

Answer: People with PMAH caused by ARMC5 gene mutations inherit one copy of the mutated gene in each cell. The inheritance is considered autosomal dominant because one copy of the mutated gene is sufficient to make an individual susceptible to PMAH. However, the condition develops only when affected individuals acquire another mutation in the other copy of the ARMC5 gene in certain cells of the adrenal glands. This second mutation is described as somatic. Instead of being passed from parent to child, somatic mutations are acquired during a person's lifetime and are present only in certain cells. Because somatic mutations are also required for PMAH to occur, some people who have inherited the altered ARMC5 gene never develop the condition, a situation known as reduced penetrance.  When PMAH is caused by GNAS gene mutations, the condition is not inherited. The GNAS gene mutations that cause PMAH are somatic mutations. In PMAH, the gene mutation is believed to occur early in embryonic development. Cells with the mutated GNAS gene can be found in both adrenal glands.
Question: Is X-linked spondyloepiphyseal dysplasia tarda inherited ?

Answer: X-linked spondyloepiphyseal dysplasia tarda is inherited in an X-linked recessive pattern. The TRAPPC2 gene is located on the X chromosome, which is 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 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 in each cell is called a carrier. She can pass on the altered gene, but usually does not experience signs and symptoms of the disorder. In rare cases, however, females who carry a TRAPPC2 mutation may develop arthritis in early adulthood.
Question: What are the genetic changes related to multiple cutaneous and mucosal venous malformations ?

Answer: Mutations in the TEK gene (also called the TIE2 gene) cause VMCM. The TEK gene provides instructions for making a protein called TEK receptor tyrosine kinase. This receptor protein triggers chemical signals needed for forming blood vessels (angiogenesis) and maintaining their structure. This signaling process facilitates communication between two types of cells within the walls of blood vessels, endothelial cells and smooth muscle cells. Communication between these two cell types is necessary to direct angiogenesis and ensure the structure and integrity of blood vessels.  TEK gene mutations that cause VMCM result in a TEK receptor that is always turned on (overactive). An overactive TEK receptor is thought to disrupt the communication between endothelial cells and smooth muscle cells. It is unclear how a lack of communication between these cells causes venous malformations. These abnormal blood vessels show a deficiency of smooth muscle cells while endothelial cells are maintained. Venous malformations cause lesions below the surface of the skin or mucous membranes, which are characteristic of VMCM.
Question: What are the treatments for Diabetic Kidney Disease ?

Answer: A health care provider may treat kidney failure due to diabetic kidney disease with dialysis or a kidney transplant. In some cases, people with diabetic kidney disease receive kidney and pancreas transplants.
                
In most cases, people with diabetic kidney disease start dialysis earlier than people with kidney failure who do not have diabetes. People with diabetic end-stage kidney disease who receive a kidney transplant have a much better survival rate than those people on dialysis, although survival rates for those on dialysis have increasingly improved over time. However, people who receive a kidney transplant and do not have diabetes have a higher survival rate than people with diabetic kidney disease who receive a transplant.5
                
More information about treatment options for kidney failure is provided in the NIDDK health topics:
                
- Treatment Methods for Kidney Failure: Hemodialysis  - Treatment Methods for Kidney Failure: Peritoneal Dialysis  - Treatment Methods for Kidney Failure: Transplantation
Question: What are the symptoms of Parathyroid Cancer ?

Answer: Signs and symptoms of parathyroid cancer include weakness, feeling tired, and a lump in the neck. Most parathyroid cancer signs and symptoms are caused by the hypercalcemia that develops. Signs and symptoms of hypercalcemia include the following:         -  Weakness.    - Feeling very tired.    -  Nausea and vomiting.    - Loss of appetite.    - Weight loss for no known reason.    - Being much more thirsty than usual.    -  Urinating much more than usual.    -  Constipation.    - Trouble thinking clearly.        Other signs and symptoms of parathyroid cancer include the following:         - Pain in the abdomen, side, or back that doesn't go away.    - Pain in the bones.    - A broken bone.    - A lump in the neck.    - Change in voice such as hoarseness.    - Trouble swallowing.        Other conditions may cause the same signs and symptoms as parathyroid cancer. Check with your doctor if you have any of these problems.
Question: What is (are) Listeria Infections ?

Answer: Listeriosis is a foodborne illness caused by Listeria monocytogenes, bacteria found in soil and water. It can be in a variety of raw foods as well as in processed foods and foods made from unpasteurized milk. Listeria is unlike many other germs because it can grow even in the cold temperature of the refrigerator.     Symptoms include fever and chills, headache, upset stomach and vomiting. Treatment is with antibiotics.    Anyone can get the illness. But it is most likely to affect pregnant women and unborn babies, older adults, and people with weak immune systems. To reduce your risk       - Use precooked and ready-to-eat foods as soon as you can     -  Avoid raw milk and raw milk products    -  Heat ready-to-eat foods and leftovers until they are steaming hot    -  Wash fresh fruits and vegetables     -  Avoid rare meat and refrigerated smoked seafood       Centers for Disease Control and Prevention
Question: What is (are) Cholera ?

Answer: Cholera is a bacterial infection that causes diarrhea. The cholera bacterium is usually found in water or food contaminated by feces (poop). Cholera is rare in the US. You may get it if you travel to parts of the world with inadequate water treatment and poor sanitation, and lack of sewage treatment. Outbreaks can also happen after disasters. The disease is not likely to spread directly from one person to another.      Often the infection is mild or without symptoms, but sometimes it can be severe. Severe symptoms include profuse watery diarrhea, vomiting, and leg cramps. In severe cases, rapid loss of body fluids leads to dehydration and shock. Without treatment, death can occur within hours.      Doctors diagnose cholera with a stool sample or rectal swab. Treatment includes replacing fluid and salts and sometimes antibiotics.      Anyone who thinks they may have cholera should seek medical attention immediately. Dehydration can be rapid so fluid replacement is essential.     Centers for Disease Control and Prevention
Question: What is (are) Polio and Post-Polio Syndrome ?

Answer: Polio is an infectious disease caused by a virus. The virus lives in an infected person's throat and intestines. It is most often spread by contact with the stool of an infected person. You can also get it from droplets if an infected person sneezes or coughs. It can contaminate food and water if people do not wash their hands.    Most people have no symptoms. If you have symptoms, they may include fever, fatigue, nausea, headache, flu-like symptoms, stiff neck and back, and pain in the limbs. A few people will become paralyzed. There is no treatment to reverse the paralysis of polio.     Some people who've had polio develop post-polio syndrome (PPS) years later. Symptoms include tiredness, new muscle weakness, and muscle and joint pain. There is no way to prevent or cure PPS.    The polio vaccine has wiped out polio in the United States and most other countries.    Centers for Disease Control and Prevention
Question: What is (are) Q fever ?

Answer: Q fever is a worldwide disease with acute and chronic stages caused by the bacteria known as Coxiella burnetii. Cattle, sheep, and goats are the primary reservoirs although a variety of species may be infected. Organisms are excreted in birth fluids, milk, urine, and feces of infected animals and are able to survive for long periods in the environment. Infection of humans usually occurs by inhalation of these organisms from air that contains airborne barnyard dust contaminated by dried placental material, birth fluids, and excreta of infected animals. Other modes of transmission to humans, including tick bites, ingestion of unpasteurized milk or dairy products, and human to human transmission, are rare. Humans are often very susceptible to the disease, and very few organisms may be required to cause infection. In less than 5% of cases the affected people with acute Q fever infection develop a chronic Q fever. Treatment of the acute form is made with antibiotics. The chronic form's treatment depend on the symptoms.
Question: What causes Greig cephalopolysyndactyly syndrome ?

Answer: What causes Greig cephalopolysyndactyly syndrome? Mutations in the GLI3 gene cause Greig cephalopolysyndactyly syndrome (GCPS). The GLI3 gene provides instructions for making a protein that controls gene expression, which is a process that regulates whether genes are turned on or off in particular cells. By interacting with certain genes at specific times during development, the GLI3 protein plays a role in the normal shaping (patterning) of many organs and tissues before birth. Different genetic changes involving the GLI3 gene can cause GCPS. In some cases, the condition results from a chromosome abnormalitysuch as a large deletion or rearrangement of genetic materialin the region of chromosome 7 that contains the GLI3 gene. In other cases, a mutation in the GLI3 gene itself is responsible for the disorder. Each of these genetic changes prevents one copy of the gene in each cell from producing any functional protein. It remains unclear how a reduced amount of this protein disrupts early development and causes the characteristic features of GCPS.
Question: What is (are) Chronic progressive external ophthalmoplegia ?

Answer: Chronic progressive external ophthalmoplegia (CPEO) is a condition characterized mainly by a loss of the muscle functions involved in eye and eyelid movement. Signs and symptoms tend to begin in early adulthood and most commonly include weakness or paralysis of the muscles that move the eye (ophthalmoplegia) and drooping of the eyelids (ptosis). Some affected individuals also have general weakness of the skeletal muscles (myopathy), which may be especially noticeable during exercise. Muscle weakness may also cause difficulty swallowing (dysphagia). CPEO can be caused by mutations in any of several genes, which may be located in mitochondrial DNA or nuclear DNA. It has different inheritance patterns depending on the gene involved in the affected individual. CPEO can occur as part of other underlying conditions, such as ataxia neuropathy spectrum and Kearns-Sayre syndrome. These conditions may not only involve CPEO, but various additional features that are not shared by most individuals with CPEO.
Question: What are the treatments for Adiposis dolorosa ?

Answer: How might adiposis dolorosa be treated? Management of adiposis dolorosa is difficult and no currently available treatments have led to long-lasting, complete pain reduction. Weight reduction, surgical removal of particularly burdensome lesions, and/or liposuction may be helpful for some people. There is currently no drug known to change the course of the disease. Available treatments mainly focus on alleviating symptoms and may include: prednisone or intravenous lidocaine for pain traditional pain medicines such nonsteroidal anti-inflammatory drugs (which are often inefficient), or acetaminophen combined with an opioid analgesic a cortisone/anesthetic injection for localized pain diuretics for swelling of the fingers Other treatments that have led to some pain reduction in some affected people include methotrexate and infliximab; interferon -2b; calcium-channel modulators; and rapid cycling hypobaric pressure. Adjunctive therapies may include acupuncture, cognitive behavioral therapy, hypnosis, and biofeedback.
Question: What causes Denys-Drash syndrome ?

Answer: What causes Denys-Drash syndrome? Denys-Drash syndrome is caused by mutations in the WT1 gene. This gene provides instructions for making a protein (the WT1 protein) that regulates the activity of other genes by attaching (binding) to specific regions of DNA. The WT1 protein plays a role in the development of the kidneys and gonads (ovaries in females and testes in males) before birth. The WT1 gene mutations that cause Denys-Drash syndrome lead to the production of an abnormal protein that cannot bind to DNA. As a result, the activity of certain genes is unregulated, which impairs the development of the kidneys and reproductive organs. Abnormal development of these organs leads to diffuse glomerulosclerosis (where scar tissue forms throughout glomeruli, the tiny blood vessels in the kidney that filter waste from blood) and gonadal dysgenesis, which are characteristic features of Denys-Drash syndrome. The abnormal gene activity caused by the loss of normal WT1 protein also increases the risk of developing Wilms tumor in affected individuals.
Question: Who is at risk for Insomnia? ?

Answer: Insomnia is a common disorder. It affects women more often than men. The disorder can occur at any age. However, older adults are more likely to have insomnia than younger people.
                
People who might be at increased risk for insomnia include those who:
                
Have a lot of stress.
                
Are depressed or have other emotional distress, such as divorce or death of a spouse.
                
Have lower incomes.
                
Work at night or have frequent major shifts in their work hours.
                
Travel long distances with time changes.
                
Have certain medical conditions or sleep disorders that can disrupt sleep. For more information, go to "What Causes Insomnia?"
                
Have an inactive lifestyle.
                
Young and middle-aged African Americans also might be at increased risk for insomnia. Research shows that, compared with Caucasian Americans, it takes African Americans longer to fall asleep. They also have lighter sleep, don't sleep as well, and take more naps. Sleep-related breathing problems also are more common among African Americans.
Question: What is (are) Dysautonomia ?

Answer: Dysautonomia refers to a disorder of autonomic nervous system (ANS) function that generally involves failure of the sympathetic or parasympathetic components of the ANS, but dysautonomia involving excessive or overactive ANS actions also can occur. Dysautonomia can be local, as in reflex sympathetic dystrophy, or generalized, as in pure autonomic failure. It can be acute and reversible, as in Guillain-Barre syndrome, or chronic and progressive. Several common conditions such as diabetes and alcoholism can include dysautonomia. Dysautonomia also can occur as a primary condition or in association with degenerative neurological diseases such as Parkinson's disease. Other diseases with generalized, primary dysautonomia include multiple system atrophy and familial dysautonomia. Hallmarks of generalized dysautonomia due to sympathetic failure are impotence (in men) and a fall in blood pressure during standing (orthostatic hypotension). Excessive sympathetic activity can present as hypertension or a rapid pulse rate.
Question: What is (are) Periventricular Leukomalacia ?

Answer: Periventricular leukomalacia (PVL) is characterized by the death of the white matter of the brain due to softening of the brain tissue. It can affect fetuses or newborns; premature babies are at the greatest risk of the disorder. PVL is caused by a lack of oxygen or blood flow to the periventricular area of the brain, which results in the death or loss of brain tissue. The periventricular area-the area around the spaces in the brain called ventricles-contains nerve fibers that carry messages from the brain to the body's muscles. Although babies with PVL generally have no outward signs or symptoms of the disorder, they are at risk for motor disorders, delayed mental development, coordination problems, and vision and hearing impairments. PVL may be accompanied by a hemorrhage or bleeding in the periventricular-intraventricular area (the area around and inside the ventricles), and can lead to cerebral palsy. The disorder is diagnosed by ultrasound of the head.
Question: What are the treatments for hereditary hemochromatosis ?

Answer: These resources address the diagnosis or management of hereditary hemochromatosis:  - Gene Review: Gene Review: HFE-Associated Hereditary Hemochromatosis  - Gene Review: Gene Review: Juvenile Hereditary Hemochromatosis  - Gene Review: Gene Review: TFR2-Related Hereditary Hemochromatosis  - GeneFacts: Hereditary Hemochromatosis: Diagnosis  - GeneFacts: Hereditary Hemochromatosis: Management  - Genetic Testing Registry: Hemochromatosis type 1  - Genetic Testing Registry: Hemochromatosis type 2A  - Genetic Testing Registry: Hemochromatosis type 3  - Genetic Testing Registry: Hemochromatosis type 4  - MedlinePlus Encyclopedia: Hemochromatosis   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