umarjan11/Medical-qna huggingface dataset:
Question: What are the genetic changes related to mucopolysaccharidosis type VI ?

Answer: Mutations in the ARSB gene cause MPS VI. The ARSB gene provides instructions for producing an enzyme called arylsulfatase B, 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 ARSB gene reduce or completely eliminate the function of arylsulfatase B. The lack of arylsulfatase B 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 such as MPS VI that cause molecules to build up inside the lysosomes are called lysosomal storage disorders. The accumulation of GAGs within lysosomes increases the size of the cells, which is why many tissues and organs are enlarged in this disorder. Researchers believe that the buildup of GAGs may also interfere with the functions of other proteins inside lysosomes, triggering inflammation and cell death.
Question: What are the genetic changes related to hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ?

Answer: Mutations in the COL4A1 gene cause HANAC syndrome. The COL4A1 gene provides instructions for making one component of a protein called type IV collagen. Type IV collagen molecules attach to each other to form complex protein networks. These protein networks are the main component of basement membranes, which are thin sheet-like structures that separate and support cells in many tissues. Type IV collagen networks play an important role in the basement membranes in virtually all tissues throughout the body, particularly the basement membranes surrounding the body's blood vessels (vasculature).  The COL4A1 gene mutations that cause HANAC syndrome result in the production of a protein that disrupts the structure of type IV collagen. As a result, type IV collagen molecules cannot attach to each other to form the protein networks in basement membranes. Basement membranes without these networks are unstable, leading to weakening of the tissues that they surround. In people with HANAC syndrome, the vasculature and other tissues within the kidneys, brain, muscles, eyes, and throughout the body weaken.
Question: What are the genetic changes related to cherubism ?

Answer: Mutations in the SH3BP2 gene have been identified in about 80 percent of people with cherubism. In most of the remaining cases, the genetic cause of the condition is unknown.  The SH3BP2 gene provides instructions for making a protein whose exact function is unclear. The protein plays a role in transmitting chemical signals within cells, particularly cells involved in the replacement of old bone tissue with new bone (bone remodeling) and certain immune system cells.  Mutations in the SH3BP2 gene lead to the production of an overly active version of this protein. The effects of SH3BP2 mutations are still under study, but researchers believe that the abnormal protein disrupts critical signaling pathways in cells associated with the maintenance of bone tissue and in some immune system cells. The overactive protein likely causes inflammation in the jaw bones and triggers the production of osteoclasts, which are cells that break down bone tissue during bone remodeling. An excess of these bone-eating cells contributes to the destruction of bone in the upper and lower jaws. A combination of bone loss and inflammation likely underlies the cyst-like growths characteristic of cherubism.
Question: What are the treatments for hemophilia ?

Answer: These resources address the diagnosis or management of hemophilia:  - Gene Review: Gene Review: Hemophilia A  - Gene Review: Gene Review: Hemophilia B  - Genetic Testing Registry: HEMOPHILIA B(M)  - Genetic Testing Registry: Hemophilia  - Genetic Testing Registry: Hereditary factor IX deficiency disease  - Genetic Testing Registry: Hereditary factor VIII deficiency disease  - Genomics Education Programme (UK): Haemophilia A  - MedlinePlus Encyclopedia: Factor IX Assay  - MedlinePlus Encyclopedia: Factor VIII Assay  - MedlinePlus Encyclopedia: Hemophilia A  - MedlinePlus Encyclopedia: Hemophilia B  - National Heart, Lung, and Blood Institute: How is Hemophilia Diagnosed?  - National Heart, Lung, and Blood Institute: How is Hemophilia Treated?  - National Hemophilia Foundation: Hemophilia Treatment Centers   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 is (are) Human Growth Hormone and Creutzfeldt-Jakob Disease Resource List ?

Answer: MAGIC (Major Aspects of Growth in Children) Foundation is a national, nonprofit organization that provides support and education about growth disorders in children and growth hormone deficiency in adults. Staff will help connect people who have similar interests or concerns.
                
The Human Growth Foundation (HGF) is a nonprofit organization concerned with childrens growth disorders and adult growth hormone deficiency. The HGF offers a brochure about adult growth hormone deficiency. The foundation also sponsors adult and pediatric Internet discussion forums to support the exchange of information about growth hormone deficiency and growth hormone replacement therapy. To subscribe, follow the instructions at www.hgfound.org.
                
The Creutzfeldt-Jakob Disease (CJD) Foundation, Inc. was created in 1993 by two families who lost relatives to CJD and the neurologist who treated the patients. This nonprofit corporation seeks to promote awareness of CJD through research and education and to reach out to people who have lost loved ones to this illness.
Question: What is (are) Irritable Bowel Syndrome in Children ?

Answer: The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus. The movement of muscles in the GI tract, along with the release of hormones and enzymes, allows for the digestion of food. Organs that make up the GI tract are the mouth, esophagus, stomach, small intestine, large intestinewhich includes the appendix, cecum, colon, and rectumand anus. The intestines are sometimes called the bowel. The last part of the GI tractcalled the lower GI tractconsists of the large intestine and anus.
                
The large intestine absorbs water and any remaining nutrients from partially digested food passed from the small intestine. The large intestine then changes waste from liquid to a solid matter called stool. Stool passes from the colon to the rectum. The rectum is located between the last part of the coloncalled the sigmoid colonand the anus. The rectum stores stool prior to a bowel movement. During a bowel movement, stool moves from the rectum to the anus, the opening through which stool leaves the body.
Question: How to prevent Balance Problems ?

Answer: Scientists are working to understand the complex interactions between the brain and the part of the inner ear responsible for balance. They are also studying the effectiveness of certain exercises as a treatment option for balance disorders. An NIDCD-supported clinical trial in benign paroxysmal positioning vertigo (BPPV) showed that repositioning maneuvers work well, and offered clinicians a range of choices in selecting the treatment best suited to each individuals unique needs. NIDCD-funded researchers have created a virtual reality grocery store. This virtual store is a computer-simulated environment that seems to be a physical place in the real world. It is designed so people with balance disorders can safely walk on a treadmill as they practice looking for items on store shelves. The goal is to help reduce a person's dizziness in confusing environments. NIDCD-supported scientists are also studying the use of a vestibular implant to stop a Mnires attack by restoring normal electrical activity in the vestibular nerve. This nerve conveys balance information to the brain. The device uses the same technology found in a cochlear implant, a medical device that currently provides a sense of sound to people who are deaf or hard-of-hearing.
Question: What is (are) Age-related Macular Degeneration ?

Answer: National Eye Institute  National Institutes of Health  2020 Vision Place  Bethesda, MD 20892-3655  301-496-5248  E-mail: 2020@nei.nih.gov  www.nei.nih.gov Association for Macular Diseases  210 East 64th Street, 8th Floor  New York, NY 10021-7471  212-605-3719 Foundation Fighting Blindness  Executive Plaza 1, Suite 800  11435 Cronhill Drive  Owings Mill, MD 21117-2220  1-888-394-3937  410-785-1414 Macular Degeneration Partnership  6222 Wilshire Boulevard, Suite 260  Los Angeles, CA 90048  1-888-430-9898  310-623-4466  www.amd.org
Question: Do you have information about E-Cigarettes

Answer: Summary : E-cigarettes, or electronic cigarettes, are battery-operated smoking devices. They often look like cigarettes, but work differently. Using an e-cigarette is called vaping. The user puffs on the mouthpiece of a cartridge. This causes a vaporizer to heat the liquid inside the cartridge. The liquid contains nicotine, flavorings, and other chemicals. The heated liquid turns into the vapor that is inhaled.    Some people think that e-cigarettes are safer than cigarettes, and that they can be used to help people quit smoking. But not much is known about the health risks of using them, or whether they do help people quit smoking. However we do know about some dangers of e-cigarettes:       - They contain nicotine, which is addictive    - They contain other potentially harmful chemicals    - There is a link between e-cigarette use and tobacco cigarette use in teens    - The liquid in e-cigarettes can cause nicotine poisoning if someone drinks, sniffs, or touches it        NIH: National Institute on Drug Abuse
Question: Do you have information about Postpartum Care

Answer: Summary : Taking home a new baby is one of the happiest times in a woman's life. But it also presents both physical and emotional challenges.        -  Get as much rest as possible. You may find that all you can do is eat, sleep, and care for your baby. And that is perfectly okay. You will have spotting or bleeding, like a menstrual period, off and on for up to six weeks.     - You might also have swelling in your legs and feet, feel constipated, have menstrual-like cramping. Even if you are not breastfeeding, you can have milk leaking from your nipples, and your breasts might feel full, tender, or uncomfortable.     - Follow your doctor's instructions on how much activity, like climbing stairs or walking, you can do for the next few weeks.     - Doctors usually recommend that you abstain from sexual intercourse for four to six weeks after birth.        In addition to physical changes, you may feel sad or have the "baby blues." If you are extremely sad or are unable to care for yourself or your baby, you might have a serious condition called postpartum depression.    Dept. of Health and Human Services Office on Women's Health
Question: What is (are) Cold Sores ?

Answer: Cold sores are caused by a contagious virus called herpes simplex virus (HSV). There are two types of HSV. Type 1 usually causes oral herpes, or cold sores. Type 1 herpes virus infects more than half of the U.S. population by the time they reach their 20s. Type 2 usually affects the genital area     Some people have no symptoms from the infection. But others develop painful and unsightly cold sores. Cold sores usually occur outside the mouth, on or around the lips. When they are inside the mouth, they are usually on the gums or the roof of the mouth. They are not the same as canker sores, which are not contagious.    There is no cure for cold sores. They normally go away on their own in a few weeks. Antiviral medicines can help them heal faster. They can also help to prevent cold sores in people who often get them. Other medicines can help with the pain and discomfort of the sores. These include ointments that numb the blisters, soften the crusts of the sores, or dry them out. Protecting your lips from the sun with sunblock lip balm can also help.
Question: What is (are) Leri Weill dyschondrosteosis ?

Answer: Leri Weill dyschondrosteosis is a skeletal dysplasia characterized by short stature and an abnormality of the wrist bones called Madelung deformity. Short stature is present from birth due to shortening of the long bones in the legs. Madelung deformity typically develops during mid-to-late childhood and may progress during puberty. People with this condition often experience pain in their wrists or arms. The severity of Leri Weill dyschondrosteosis varies among affected individuals, although the signs and symptoms of this condition are generally more severe in females. Other features of Leri Weill dyschondrosteosis can include increased muscle size, bowing of a bone in the leg called the tibia, elbow abnormalities, scoliosis, and high-arched palate. Intelligence is not affected by this condition. Most cases of Leri Weill dyschondrosteosis are caused by mutations in or near the SHOX gene. The cause of the disorder remains unknown in those cases not related to the SHOX gene. Leri Weill dyschondrosteosis follows a pseudoautosomal dominant pattern of inheritance.
Question: What is (are) Carnitine palmitoyltransferase 2 deficiency ?

Answer: Carnitine palmitoyltransferase 2 (CPT2) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). There are three main types of CPT2 deficiency: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form. The neonatal and infantile forms are severe multisystemic diseases characterized by liver failure with hypoketotic hypoglycemia (extremely low levels of ketones (substances produced when fat cells break down in the blood) and low blood sugar), cardiomyopathy, seizures, and early death. The myopathic form is characterized by exercise-induced muscle pain and weakness and occasional myoglobinuria (rust-colored urine indicating breakdown of muscle tissue). Mutations in the CPT2 gene cause CPT2 deficiency. It is inherited in an autosomal recessive pattern. Treatment is based on avoidance of prolonged fasting and a low-fat and high-carbohydrate diet.
Question: How to diagnose Nonalcoholic steatohepatitis ?

Answer: How is nonalcoholic steatohepatitis diagnosed? NASH is usually first suspected when elevations are noted in liver tests that are included in routine blood test panels. These may include alanine aminotransferase (ALT) or aspartate aminotransferase (AST). When further evaluation shows no apparent reason for liver disease (such as medications, viral hepatitis, or excessive use of alcohol) and when x-rays or imaging studies of the liver show fat, NASH is suspected. The only way to definitely diagnosis NASH and separate it from simple fatty liver is through a liver biopsy. For a liver biopsy, a needle is inserted through the skin to remove a small piece of the liver. NASH is diagnosed when examination of the tissue with a microscope shows fat along with inflammation and damage to liver cells. If the tissue shows fat without inflammation and damage, simple fatty liver or NAFLD is diagnosed. An important piece of information learned from the biopsy is whether scar tissue has developed in the liver. Blood tests and scans cannot reliably provide this information at this time.
Question: What are the treatments for Madelung disease ?

Answer: How might Madelung disease be treated? To date, the most effective treatment for Madelung disease is surgery which may include surgical excision (removal) and/or liposuction. Liposuction has gained popularity in more recent years since it results in minimal scarring. It is also considered less invasive, technically easier, and better suited for people with a higher surgical or anaesthetic risk. Some researchers believe it is unnecessary to subject affected people to the risks of surgery because the condition is usually benign. In their opinion, surgical excision should be limited to those with airway compression or severe physical deformities. The limitations of liposuction include incomplete removal of lipomas. The main disadvantage of surgical excision is the scarring; however, it offers the chance of more extensive "debulking" of affected areas. Reportedly, it is rarely possible to remove the lipomas completely and they often recur after both of these procedures. Some researchers have reported modest success treating the condition with the medication salbutamol, which increases the breakdown of fats. Abstaining from alcohol intake, weight loss, and correction of any associated metabolic/endocrine abnormalities are also recommended.
Question: What is (are) Pectus carinatum ?

Answer: Pectus carinatum refers to a chest wall abnormality in which the breastbone is pushed outward. It generally presents during childhood and worsens through adolescence. If the condition occurs in isolation, it is often not associated with any additional signs or symptoms. Rarely, affected people report shortness of breath during exercise, frequent respiratory infections, and/or asthma. The underlying cause of isolated pectus carinatum is unknown. Pectus carinatum can also be associated with a variety of genetic disorders and syndromes, including Marfan syndrome, Noonan syndrome, Morquio syndrome, homocystinuria, osteogenesis imperfecta, Coffin-Lowery syndrome, cardiofaciocutaneous syndrome, and certain chromosome abnormalities. In these cases, the condition has an underlying genetic cause and is associated with additional features that are characteristic of the genetic disease. Pectus carinatum is primarily a cosmetic concern and treatment, therefore, depends on the severity of the condition and the interests of the affected person and their family. In those who choose to pursue treatment, bracing and/or surgery may be an option.
Question: What are the treatments for Polycythemia vera ?

Answer: What treatments are available for itching related to polycythemia vera? There are several treatments for the itching (pruritus) related to polycythemia vera (PV).  No single treatment has been found to be effective for all affected individuals.  For mild cases, treatment may include avoiding triggers of itching and dry skin, or controlling the temperature of the environment and bathing water.  Several other treatments are available for more severe itching or for itching the does not respond to initial treatments.  Interferon-alpha has been found to be effective for reducing itching in a majority of individual with PV who received this therapy; however, this medication can have significant side effects.  Selective serotonin reuptake inhibitors (SSRIs), typically used to treat depression, may reducing itching for some individuals with PV..  Phototherapy, antihistamines, and phlebotomy have also been attempted, with mixed results.  Additionally, if a genetic cause of polycythemia vera is know, medications targeted to the causative gene - such as JAK or mTor inhibitors - may be helpful in reducing itching.
Question: What are the treatments for Parasites - Cyclosporiasis (Cyclospora Infection) ?

Answer: Trimethoprim/sulfamethoxazole (TMP/SMX), sold under the trade names Bactrim*, Septra*, and Cotrim*, is the usual therapy for Cyclospora infection. No highly effective alternative antibiotic regimen has been identified yet for patients who do not respond to the standard treatment or have a sulfa allergy.
    
More on: Resources for Health Professionals: Treatment
    
Most people who have healthy immune systems will recover without treatment. If not treated, the illness may last for a few days to a month or longer. Symptoms may seem to go away and then return one or more times (relapse). Anti-diarrheal medicine may help reduce diarrhea, but a health care provider should be consulted before such medicine is taken. People who are in poor health or who have weakened immune systems may be at higher risk for severe or prolonged illness.
    
More on: Resources for Health Professionals FAQs
    
* Use of trade names is for identification only and does not imply endorsement by the Public Health Service or by the U.S. Department of Health and Human Services.
Question: Who is at risk for Nocardiosis? ?

Answer: People with very weak immune (body defense) systems are at risk for getting nocardiosis. 
    
Several diseases and circumstances can cause the immune system to be weak. These include:
    
     - Diabetes
     - Cancer
     - HIV/AIDS
     - Pulmonary alveolar proteinosis (an illness that causes the air sacs of the lungs to become plugged)
     - Connective tissue disorder (a disease that affects the tissue that connects and supports different parts of the body)
     - Alcoholism
     - Having a bone marrow or solid organ transplant
     - Taking high doses of drugs called corticosteroids
    
    
In the United States, it has been estimated that 500-1,000 new cases of nocardiosis infection occur every year. Approximately 60% of nocardiosis cases are associated with pre-existing immune compromise. 
    
In addition, men have a greater risk of getting the infection than women; for every female who gets sick with nocardiosis, there are about 3 males who get the disease.
Question: What are the genetic changes related to ocular albinism ?

Answer: Ocular albinism type 1 results from mutations in the GPR143 gene. This gene provides instructions for making a protein that plays a role in pigmentation of the eyes and skin. It helps control the growth of melanosomes, which are cellular structures that produce and store a pigment called melanin. Melanin is the substance that gives skin, hair, and eyes their color. In the retina, this pigment also plays a role in normal vision.  Most mutations in the GPR143 gene alter the size or shape of the GPR143 protein. Many of these genetic changes prevent the protein from reaching melanosomes to control their growth. In other cases, the protein reaches melanosomes normally but mutations disrupt the protein's function. As a result of these changes, melanosomes in skin cells and the retina can grow abnormally large. Researchers are uncertain how these giant melanosomes are related to vision loss and other eye abnormalities in people with ocular albinism.  Rare cases of ocular albinism are not caused by mutations in the GPR143 gene. In these cases, the genetic cause of the condition is often unknown.
Question: What is (are) Miyoshi myopathy ?

Answer: Miyoshi myopathy is a muscle disorder that primarily affects muscles away from the center of the body (distal muscles), such as those in the legs. During early to mid-adulthood, affected individuals typically begin to experience muscle weakness and wasting (atrophy) in one or both calves. If only one leg is affected, the calves appear different in size (asymmetrical). Calf weakness can make it difficult to stand on tiptoe.  As Miyoshi myopathy slowly progresses, the muscle weakness and atrophy spread up the leg to the muscles in the thigh and buttock. Eventually, affected individuals may have difficulty climbing stairs or walking for an extended period of time. Some people with Miyoshi myopathy may eventually need wheelchair assistance.  Rarely, the upper arm or shoulder muscles are mildly affected in Miyoshi myopathy. In a few cases, abnormal heart rhythms (arrhythmias) have developed. Individuals with Miyoshi myopathy have highly elevated levels of an enzyme called creatine kinase (CK) in their blood, which often indicates muscle disease.