umarjan11/Medical-qna huggingface dataset:
Question: What are the treatments for congenital diaphragmatic hernia ?

Answer: These resources address the diagnosis or management of congenital diaphragmatic hernia:  - Boston Children's Hospital  - Children's Hospital of Philadelphia  - Columbia University Medical Center: DHREAMS  - Columbia University Medical Center: Hernia Repair  - Gene Review: Gene Review: Congenital Diaphragmatic Hernia Overview  - Genetic Testing Registry: Congenital diaphragmatic hernia  - Genetic Testing Registry: Diaphragmatic hernia 2  - Genetic Testing Registry: Diaphragmatic hernia 3  - MedlinePlus Encyclopedia: Diaphragmatic Hernia Repair  - Seattle Children's Hospital: Treatment of Congenital Diaphragmatic Hernia  - University of California, San Francisco Fetal Treatment Center: Congenital Diaphragmatic Hernia  - University of Michigan Health System   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 treatments for breast cancer ?

Answer: These resources address the diagnosis or management of breast cancer:  - Gene Review: Gene Review: BRCA1 and BRCA2 Hereditary Breast/Ovarian Cancer  - Gene Review: Gene Review: Hereditary Diffuse Gastric Cancer  - Gene Review: Gene Review: Li-Fraumeni Syndrome  - Gene Review: Gene Review: PTEN Hamartoma Tumor Syndrome (PHTS)  - Gene Review: Gene Review: Peutz-Jeghers Syndrome  - Genetic Testing Registry: Familial cancer of breast  - Genomics Education Programme (UK): Hereditary Breast and Ovarian Cancer  - National Cancer Institute: Breast Cancer Risk Assessment Tool  - National Cancer Institute: Genetic Testing for BRCA1 and BRCA2: It's Your Choice  - National Cancer Institute: Genetic Testing for Hereditary Cancer Syndromes   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 Roberts syndrome ?

Answer: Mutations in the ESCO2 gene cause Roberts syndrome. This gene provides instructions for making a protein that is important for proper chromosome separation during cell division. Before cells divide, they must copy all of their chromosomes. The copied DNA from each chromosome is arranged into two identical structures, called sister chromatids. The ESCO2 protein plays an important role in establishing the glue that holds the sister chromatids together until the chromosomes are ready to separate.  All identified mutations in the ESCO2 gene prevent the cell from producing any functional ESCO2 protein, which causes some of the glue between sister chromatids to be missing around the chromosome's constriction point (centromere). In Roberts syndrome, cells respond to abnormal sister chromatid attachment by delaying cell division. Delayed cell division can be a signal that the cell should undergo self-destruction. The signs and symptoms of Roberts syndrome may result from the loss of cells from various tissues during early development. Because both mildly and severely affected individuals lack any functional ESCO2 protein, the underlying cause of the variation in disease severity remains unknown. Researchers suspect that other genetic and environmental factors may be involved.
Question: What are the genetic changes related to mucopolysaccharidosis type II ?

Answer: Mutations in the IDS gene cause MPS II. The IDS gene provides instructions for producing the I2S enzyme, which is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. Mutations in the IDS gene reduce or completely eliminate the function of the I2S enzyme. Lack of I2S enzyme activity leads to the accumulation of GAGs within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that digest and recycle different types of molecules. Conditions that cause molecules to build up inside the lysosomes, including MPS II, are called lysosomal storage disorders. The accumulation of GAGs increases the size of the lysosomes, which is why many tissues and organs are enlarged in this disorder. Researchers believe that the GAGs may also interfere with the functions of other proteins inside the lysosomes and disrupt the movement of molecules inside the cell.
Question: Is common variable immune deficiency inherited ?

Answer: Most cases of CVID are sporadic and occur in people with no apparent history of the disorder in their family. These cases probably result from a complex interaction of environmental and genetic factors.  In some families, CVID is inherited in an autosomal recessive pattern, which means both copies of a 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.  In very rare cases, this condition is inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder.  When CVID is caused by mutations in the TNFRSF13B gene, it is often sporadic. When TNFRSF13B gene mutations are inherited, they can cause either autosomal dominant CVID or autosomal recessive CVID.  Not all individuals who inherit a gene mutation associated with CVID will develop the disease. In many cases, affected children have an unaffected parent who shares the same mutation. Additional genetic or environmental factors are probably needed for the disorder to occur.
Question: What is (are) VLDLR-associated cerebellar hypoplasia ?

Answer: VLDLR-associated cerebellar hypoplasia is an inherited condition that affects the development of the brain. People with this condition have an unusually small and underdeveloped cerebellum, which is the part of the brain that coordinates movement. This brain malformation leads to problems with balance and coordination (ataxia) that become apparent in infancy and remain stable over time. Children with VLDLR-associated cerebellar hypoplasia may learn to walk later in childhood, usually after the age of 6, although some are never able to walk independently. In one Turkish family, affected people walk on their hands and feet (quadrupedal locomotion).  Additional features of VLDLR-associated cerebellar hypoplasia include moderate to profound intellectual disability, impaired speech (dysarthria) or a lack of speech, and eyes that do not look in the same direction (strabismus). Some affected individuals have also had flat feet (pes planus), seizures, and short stature. Studies suggest that VLDLR-associated cerebellar hypoplasia does not significantly affect a person's life expectancy.
Question: Is permanent neonatal diabetes mellitus inherited ?

Answer: Permanent neonatal diabetes mellitus can have different inheritance patterns.  When this condition is caused by mutations in the KCNJ11 or INS gene it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In about 90 percent of these cases, the condition results from new mutations in the gene and occurs in people with no history of the disorder in their family. In the remaining cases, an affected person inherits the mutation from one affected parent.  When permanent neonatal diabetes mellitus is caused by mutations in the ABCC8 gene, it may be inherited in either an autosomal dominant or autosomal recessive pattern. In autosomal recessive inheritance, 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.  Less commonly the condition is caused by mutations in other genes, and in these cases it is also inherited in an autosomal recessive pattern.
Question: What are the symptoms of Amyloidosis and Kidney Disease ?

Answer: The most common sign of primary amyloidosis of the kidneys is nephrotic syndromea collection of signs that indicate kidney damage. The signs of nephrotic syndrome include
                
- albuminuriaan increased amount of albumin, a protein, in the urine. A person with nephrotic syndrome excretes more than half a teaspoon of albumin per day.  - hyperlipidemiaa condition in which a persons blood has more-than-normal amounts of fats and cholesterol.  - edemaswelling, typically in a persons legs, feet, or ankles and less often in the hands or face.  - hypoalbuminemiaa condition in which a persons blood has less-than-normal amounts of albumin.
                
More information is provided in the NIDDK health topic, Nephrotic Syndrome in Adults.
                
Other signs and symptoms of primary amyloidosis may include
                
- fatigue, or feeling tired  - shortness of breath  - low blood pressure  - numbness, tingling, or a burning sensation in the hands or feet  - weight loss
Question: What is (are) Ulcerative Colitis ?

Answer: Ulcerative colitis (UC) is a disease that causes inflammation and sores, called ulcers, in the lining of the rectum and colon. It is one of a group of diseases called inflammatory bowel disease.    UC can happen at any age, but it usually starts between the ages of 15 and 30. It tends to run in families. The most common symptoms are pain in the abdomen and blood or pus in diarrhea. Other symptoms may include       - Anemia    - Severe tiredness    - Weight loss    - Loss of appetite    - Bleeding from the rectum    - Sores on the skin    - Joint pain    - Growth failure in children       About half of people with UC have mild symptoms.    Doctors use blood tests, stool tests, colonoscopy or sigmoidoscopy, and imaging tests to diagnose UC. Several types of drugs can help control it. Some people have long periods of remission, when they are free of symptoms. In severe cases, doctors must remove the colon.    NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Question: What is (are) Headache ?

Answer: Almost everyone has had a headache. Headache is the most common form of pain. It's a major reason people miss days at work or school or visit the doctor.    The most common type of headache is a tension headache. Tension headaches are due to tight muscles in your shoulders, neck, scalp and jaw. They are often related to stress, depression or anxiety. You are more likely to get tension headaches if you work too much, don't get enough sleep, miss meals, or use alcohol.    Other common types of headaches include migraines, cluster headaches, and sinus headaches. Most people can feel much better by making lifestyle changes, learning ways to relax and taking pain relievers.    Not all headaches require a doctor's attention. But sometimes headaches warn of a more serious disorder. Let your health care provider know if you have sudden, severe headaches. Get medical help right away if you have a headache after a blow to your head, or if you have a headache along with a stiff neck, fever, confusion, loss of consciousness, or pain in the eye or ear.    NIH: National Institute of Neurological Disorders and Stroke
Question: What is (are) Cough ?

Answer: Coughing is a reflex that keeps your throat and airways clear. Although it can be annoying, coughing helps your body heal or protect itself. Coughs can be either acute or chronic. Acute coughs begin suddenly and usually last no more than 2 to 3 weeks. Acute coughs are the kind you most often get with a cold, flu, or acute bronchitis. Chronic coughs last longer than 2 to 3 weeks. Causes of chronic cough include       - Chronic bronchitis    - Asthma    - Allergies    - COPD (chronic obstructive pulmonary disease)    - GERD (gastroesophageal reflux disease)     - Smoking    - Throat disorders, such as croup in young children    - Some medicines        Water can help ease your cough - whether you drink it or add it to the air with a steamy shower or vaporizer. If you have a cold or the flu, antihistamines may work better than non-prescription cough medicines. Children under four should not have cough medicine. For children over four, use caution and read labels carefully.
Question: What is (are) Burns ?

Answer: A burn is damage to your body's tissues caused by heat, chemicals, electricity, sunlight or radiation. Scalds from hot liquids and steam, building fires and flammable liquids and gases are the most common causes of burns. Another kind is an inhalation injury, caused by breathing smoke.    There are three types of burns:       -  First-degree burns damage only the outer layer of skin     -  Second-degree burns damage the outer layer and the layer underneath    -  Third-degree burns damage or destroy the deepest layer of skin and tissues underneath       Burns can cause swelling, blistering, scarring and, in serious cases, shock and even death. They also can lead to infections because they damage your skin's protective barrier. Treatment for burns depends on the cause of the burn, how deep it is, and how much of the body it covers. Antibiotic creams can prevent or treat infections. For more serious burns, treatment may be needed to clean the wound, replace the skin, and make sure the patient has enough fluids and nutrition.    NIH: National Institute of General Medical Sciences
Question: What is (are) Vasculitis ?

Answer: Vasculitis is an inflammation of the blood vessels. It happens when the body's immune system attacks the blood vessel by mistake. It can happen because of an infection, a medicine, or another disease. The cause is often unknown.    Vasculitis can affect arteries, veins and capillaries. Arteries are vessels that carry blood from the heart to the body's organs. Veins are the vessels that carry blood back to the heart. Capillaries are tiny blood vessels that connect the small arteries and veins.     When a blood vessel becomes inflamed, it can       -  Narrow, making it more difficult for blood to get through     -  Close off completely so that blood can't get through     -  Stretch and weaken so much that it bulges. The bulge is called an aneurysm. If it bursts, it can cause dangerous bleeding inside the body.       Symptoms of vasculitis can vary, but usually include fever, swelling and a general sense of feeling ill. The main goal of treatment is to stop the inflammation. Steroids and other medicines to stop inflammation are often helpful.    NIH: National Heart, Lung, and Blood Institute
Question: What is (are) Heat Illness ?

Answer: Your body normally cools itself by sweating. During hot weather, especially with high humidity, sweating just isn't enough. Your body temperature can rise to dangerous levels and you can develop a heat illness. Most heat illnesses occur from staying out in the heat too long. Exercising too much for your age and physical condition are also factors. Older adults, young children and those who are sick or overweight are most at risk. Drinking fluids to prevent dehydration, replenishing salt and minerals, and limiting time in the heat can help.    Heat-related illnesses include       -  Heatstroke - a life-threatening illness in which body temperature may rise above 106 F in minutes; symptoms include dry skin, rapid, strong pulse and dizziness     -  Heat exhaustion - an illness that can precede heatstroke; symptoms include heavy sweating, rapid breathing and a fast, weak pulse     -  Heat cramps - muscle pains or spasms that happen during heavy exercise     -  Heat rash - skin irritation from excessive sweating        Centers for Disease Control and Prevention
Question: What is (are) Meningococcal Infections ?

Answer: Meningococci are a type of bacteria that cause serious infections. The most common infection is meningitis, which is an inflammation of the thin tissue that surrounds the brain and spinal cord. Meningococci can also cause other problems, including a serious bloodstream infection called sepsis.    Meningococcal infections can spread from person to person. Risk factors include       - Age - it is more common in infants, teens, and young adults    - Living in close quarters, such as in college dorms or military settings    - Certain medical conditions, such as not having a spleen    - Travel to areas where meningococcal disease is common       In its early stages, you may have flu-like symptoms and a stiff neck. But the disease can progress quickly and can be fatal. Early diagnosis and treatment are extremely important. Lab tests on your blood and cerebrospinal fluid can tell if you have it. Treatment is with antibiotics. Since the infection spreads from person to person, family members may also need to be treated.    A vaccine can prevent meningococcal infections.
Question: Is Nance-Horan syndrome inherited ?

Answer: How is Nance-Horan syndrome inherited? Nance-Horan syndrome is inherited as an X-linked dominant trait. In X-linked dominant inheritance, both males and females can be affected by a condition. However, affected males tend to have more severe features than females. X-linked conditions result from mutations of a gene located on an X chromosome. Females have two X chromosomes, but males have one X chromosome and one Y chromosome. In females, disease traits resulting from the abnormal copy of a gene on one X chromosome can be 'masked' by the normal copy of the gene on the other X chromosome. Because only one functioning X chromosome is required in males and females, one of the X chromosomes in each cell of a female is essentially 'turned off,' usually in a random pattern (X chromosome inactivation). Therefore, if the X chromosome with the gene mutation is activated in some cells, female carriers may have some mild features of the disorder. However, since males only have one X chromosome, they will likely fully express a condition if they inherit a gene mutation that is located on the X chromosome.
Question: What is (are) Intrahepatic cholestasis of pregnancy ?

Answer: Intrahepatic cholestasis of pregnancy (ICP) is a disorder of the liver that occurs in women during pregnancy. Cholestasis is a condition that impairs the release of bile (a digestive juice) from liver cells. The bile then builds up in the liver, impairing liver function. Symptoms typically become apparent in the third trimester of pregnancy and can include severe itching (pruritus). Occasionally, the skin and the whites of the eyes can have a yellow appearance (jaundice). ICP is additionally associated with risks to the developing baby such as premature delivery and stillbirth. The cause of ICP is largely unknown, although approximately 15% of cases are caused by mutations in either the ABCB11 or ABCB4 genes. Mutations within the ABCB11 and ABCB4 genes are inherited in an autosomal dominant manner. Symptoms of ICP are typically limited to pregnancy. Bile flow returns to normal after delivery and the signs and symptoms of the condition disappear, however, they can return during later pregnancies.
Question: What is (are) Lymphedema-distichiasis syndrome ?

Answer: Lymphedema distichiasis syndrome is a condition that affects the normal function of the lymphatic system (part of the immune system that produces and transports fluids and immune cells throughout the body). People with this condition are born with extra eyelashes (distichiasis) and develop puffiness or swelling (lymphedema) of the limbs by the time they are in their forties. The abnormal eyelashes, which grow along the inner lining of the eyelid, often touch the eyeball and can cause damage to the clear covering of the eye (cornea). Other eye problems such as an irregular curvature of the cornea causing blurred vision (astigmatism) or scarring of the cornea may also occur. Other health problems, varicose veins, droopy eyelids (ptosis), heart abnormalities, and an opening in the roof of the mouth (a cleft palate), may also be present. Lymphedema-distichiasis syndrome is caused by mutations in the FOXC2 gene. This condition is inherited in an autosomal dominant pattern.
Question: Is Intellectual disability-developmental delay-contractures syndrome inherited ?

Answer: How is intellectual disability-developmental delay-contractures syndrome inherited? Intellectual disability-developmental delay-contractures syndrome syndrome is inherited in an X-linked recessive manner and is caused by mutations in the ZC4H2 gene. A condition is considered X-linked if the gene with the mutation that causes the disorder 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. As such, males are affected by X-linked recessive disorders much more frequently than females. 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. Rarely, female carriers of a ZC4H2 gene mutation have been reported to exhibit mild symptoms.
Question: What causes Schnitzler syndrome ?

Answer: What causes Schnitzler syndrome? The exact underlying cause of Schnitzler syndrome is currently unknown. People affected by this condition often have a blood abnormality called monoclonal gammopathy, a condition in which the body over-produces certain immunoglobulins (typically immunoglobulin M). Immunoglobulins are proteins that are made by certain white blood cells. They play a role in the immune response by helping destroy bacteria, viruses, and other substances that appear foreign and harmful. Some researchers believe that the abnormal accumulation of immunoglobulins in the skin and other parts of the body may play a role in the development of the signs and symptoms of Schnitzler syndrome. Other scientists speculate that alterations in cytokines may play a role in the development of Schnitzler syndrome. Cytokines are specialized proteins that play an important role in the immune response. They are secreted by certain immune system cells and play a vital role in controlling the growth and activity of other immune system cells. Abnormal findings involving a specific cytokine called interleukin-1 have been found in some people with Schnitzler syndrome.
Question: What is (are) Parasites - American Trypanosomiasis (also known as Chagas Disease) ?

Answer: Chagas disease is caused by the parasite Trypanosoma cruzi, which is transmitted to animals and people by insect vectors that are found only in the Americas (mainly, in rural areas of Latin America where poverty is widespread). Chagas disease (T. cruzi infection) is also referred to as American trypanosomiasis.
It is estimated that as many as 8 million people in Mexico, Central America, and South America have Chagas disease, most of whom do not know they are infected. If untreated, infection is lifelong and can be life threatening.
The impact of Chagas disease is not limited to the rural areas in Latin America in which vectorborne transmission occurs. Large-scale population movements from rural to urban areas of Latin America and to other regions of the world have increased the geographic distribution and changed the epidemiology of Chagas disease. In the United States and in other regions where Chagas disease is now found but is not endemic, control strategies should focus on preventing transmission from blood transfusion, organ transplantation, and mother-to-baby (congenital transmission).