umarjan11/Medical-qna huggingface dataset:
Question: What are the genetic changes related to X-linked spondyloepiphyseal dysplasia tarda ?

Answer: Mutations in the TRAPPC2 gene (often called the SEDL gene) cause X-linked spondyloepiphyseal dysplasia tarda. The TRAPPC2 gene provides instructions for producing the protein sedlin. The function of sedlin is unclear. Researchers believe that sedlin is part of a large molecule called the trafficking protein particle (TRAPP) complex, which plays a role in the transport of proteins between various cell compartments (organelles). Because sedlin is active (expressed) in cells throughout the body; it is unclear why mutations in the TRAPPC2 gene affect only bone growth.
Question: What are the treatments for multiple mitochondrial dysfunctions syndrome ?

Answer: These resources address the diagnosis or management of multiple mitochondrial dysfunctions syndrome:  - Gene Review: Gene Review: Mitochondrial Disorders Overview  - Genetic Testing Registry: Multiple mitochondrial dysfunctions syndrome 1  - Genetic Testing Registry: Multiple mitochondrial dysfunctions syndrome 2  - Genetic Testing Registry: Multiple mitochondrial dysfunctions syndrome 3   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 retroperitoneal fibrosis ?

Answer: No genes associated with retroperitoneal fibrosis have been identified.  Retroperitoneal fibrosis occasionally occurs with autoimmune disorders, which result when the immune system malfunctions and attacks the body's own organs and tissues. Researchers suggest that the immune system may be involved in the development of retroperitoneal fibrosis. They propose that the immune system may be reacting abnormally to blood vessels damaged by fatty buildup (atherosclerosis) or to certain drugs, infections, or trauma. In many cases, the reason for the abnormal immune system reaction is unknown. Such cases are described as idiopathic.
Question: What are the symptoms of Intestinal Pseudo-obstruction ?

Answer: Intestinal pseudo-obstruction symptoms may include
                
- abdominal swelling or bloating, also called distension  - abdominal pain  - nausea  - vomiting  - constipation  - diarrhea
                
Over time, the condition can cause malnutrition, bacterial overgrowth in the intestines, and weight loss. Malnutrition is a condition that develops when the body does not get the right amount of the vitamins, minerals, and other nutrients it needs to maintain healthy tissues and organ function.
                
Some people develop problems with their esophagus, stomach, or bladder.
Question: What are the symptoms of Crohn's Disease ?

Answer: The most common signs and symptoms of Crohn's disease are
                
- diarrhea  - abdominal cramping and pain  - weight loss
                
Other general signs and symptoms include
                
- feeling tired  - nausea or loss of appetite  - fever  - anemiaa condition in which the body has fewer red blood cells than normal
                
Signs and symptoms of inflammation outside of the intestines include
                
- joint pain or soreness  - eye irritation  - skin changes that involve red, tender bumps under the skin
                
The symptoms a person experiences can vary depending on the severity of the inflammation and where it occurs.
Question: How many people are affected by Polycystic Kidney Disease ?

Answer: Estimates of PKDs prevalence range from one in 400 to one in 1,000 people.1 According to the United States Renal Data System, PKD accounts for 2.2 percent of new cases of kidney failure each year in the United States. Annually, eight people per 1 million have kidney failure as a result of PKD.2
                
Polycystic kidney disease exists around the world and in all races. The disorder occurs equally in women and men, although men are more likely to develop kidney failure from PKD. Women with PKD and high blood pressure who have had more than three pregnancies also have an increased chance of developing kidney failure.
Question: What are the treatments for Diagnosis of Diabetes and Prediabetes ?

Answer: People can manage their diabetes with meal planning, physical activity, and if needed, medications. More information about taking care of type 1 or type 2 diabetes is provided in the NIDDK health topics:
                
- What I need to know about Diabetes Medicines  - What I need to know about Eating and Diabetes  - Your Guide to Diabetes: Type 1 and Type 2
                
These NDIC publications are available at http://www.niddk.nih.gov/health-information/health-topics/Diabetes/Pages/default.aspx or by calling 18008608747.
Question: What causes Zollinger-Ellison Syndrome ?

Answer: Experts do not know the exact cause of Zollinger-Ellison syndrome. About 25 to 30 percent of gastrinomas are caused by an inherited genetic disorder called multiple endocrine neoplasia type 1 (MEN1).1 MEN1 causes hormone-releasing tumors in the endocrine glands and the duodenum. Symptoms of MEN1 include increased hormone levels in the blood, kidney stones, diabetes, muscle weakness, weakened bones, and fractures.
                
More information about MEN1 is provided in the NIDDK health topic, Multiple Endocrine Neoplasia Type 1.
Question: What is (are) Age-related Macular Degeneration ?

Answer: Dry AMD occurs when the light-sensitive cells in the macula slowly break down, gradually blurring central vision in the affected eye. As dry AMD gets worse, you may see a blurred spot in the center of your vision. Over time, as less of the macula functions, central vision in the affected eye can be lost. If you have vision loss from dry AMD in one eye only, you may not notice any changes in your overall vision. With the other eye seeing clearly, you can still drive, read, and see fine details. You may notice changes in your vision only if AMD affects both eyes. If you experience blurry vision, see an eye care professional for a comprehensive dilated eye exam.
Question: Who is at risk for Intraocular (Uveal) Melanoma? ?

Answer: Being older and having fair skin may increase the risk of intraocular melanoma. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your doctor if you think you may be at risk.    Risk factors for intraocular melanoma include the following:         - Having a fair complexion, which includes the following:                - Fair skin that freckles and burns easily, does not tan, or tans poorly.      - Blue or green or other light-colored eyes.             - Older age.    - Being white.
Question: Who is at risk for Plasma Cell Neoplasms (Including Multiple Myeloma)? ?

Answer: Age can affect the risk of plasma cell neoplasms. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if you think you may be at risk.    Plasma cell neoplasms are most common in people who are middle aged or older. For multiple myeloma and plasmacytoma, other risk factors include the following:          - Being black.    - Being male.    - Having a personal history of MGUS or plasmacytoma.    - Being exposed to radiation or certain chemicals.
Question: Do you have information about Teen Health

Answer: Summary : As a teenager, you go through many changes. Your body is on its way to becoming its adult size. You may notice that you can't fit into your old shoes or that your jeans are now 3 inches too short. Along with these changes, you are probably becoming more independent and making more of your own choices. Some of the biggest choices you face are about your health.    Healthy habits, including eating a healthy diet and being physically active, can help you feel good, look good, and do your best in school, work, or sports. They might also prevent diseases such as diabetes, high blood pressure, heart disease, osteoporosis, stroke, and some cancers when you are older.
Question: What causes Rett syndrome ?

Answer: What causes Rett syndrome? Rett syndrome is typically caused by changes (mutations) in the MECP2 gene. This gene provides instructions for making a protein (MeCP2) needed for the development of the nervous system and normal brain function. Mutations in the MECP2 gene that cause Rett syndrome can change the MeCP2 protein or result in the production of too little protein, which appears to disrupt the normal function of neurons and other cells in the brain. Several conditions caused by changes in other genes (such as FOXG1 syndrome) have overlapping signs and/or symptoms of Rett syndrome. These conditions were once thought to be variant forms of Rett syndrome, but are now usually considered to be separate disorders.
Question: What are the treatments for Birdshot chorioretinopathy ?

Answer: What treatments are available for birdshot chorioretinopathy? Unfortunately, there is currently no cure for birdshot chorioretinopathy.  Because this condition is rare, there are no established guidelines for treatment.  Treatment is determined based on the severity of each affected individual's symptoms.  Because birdshot chorioretinopathy is suspected to be an autoimmune disease, therapies aim to regulate the body's immune response.  Therapies may include corticosteroids such as prednisone (by injection or medication taken by mouth) or medications that suppress the immune system such as cyclosporine.
Question: What is (are) Williams syndrome ?

Answer: Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems. Williams syndrome is caused by missing genes from a specific region of chromosome 7. The deleted region includes more than 25 genes and researchers believe that a loss of several of these genes probably contributes to the characteristic features of this disorder. Although Williams syndrome is considered an autosomal dominant condition, most cases are not inherited, but occur as random events during the formation of reproductive cells (eggs or sperm) in a parent of an affected individual.
Question: What causes Intervertebral disc disease ?

Answer: What causes intervertebral disc disease? Intervertebral disc disease (IDD) is a multifactorial disorder, which means that both genetic and environmental factors probably interact to predispose an individual to the condition. It is likely that several factors are needed for development of IDD. Factors such as occupational stress, trauma, or obesity, together with genetic alterations, may result in the structural weakness of a disc, cause a herniation, and possibly initiate a cascade of events leading to sciatica and pathological disc changes. One of the best-known environmental risk factors for IDD is vibration in occupational driving. Inflammation is also likely to play an important role in the progression of this process.
Question: What are the treatments for Catamenial pneumothorax ?

Answer: How might catamenial pneumothorax be treated? Treatment of choice is with surgery, with video-assisted thoracoscopic surgery (VATS). Conventional thoracotomy may be occasionally necessary, particularly in repeat operations. It is very important to examine the large, thin tissue lining around the outside of the lungs and the inside of the chest cavity (pleura).  Hormonal treatment with surgery prevents the repeat of catamenial and/or endometriosis-related pneumothorax. Gonadotrophin-releasing hormone (GnRH) for 6 to 12 months after the surgery is also often recommended.
Question: Is Bethlem myopathy inherited ?

Answer: How is Bethlem myopathy inherited? Bethlem myopathy is typically inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. IN some cases, an affected person inherits the mutation from one affected parent. In rare cases, the condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Question: What causes Protein C deficiency ?

Answer: What causes protein C deficiency? Protein C deficiency can be inherited or acquired later in life. Inherited protein C deficiency is caused by mutations in the gene that provides instructions for making protein C, called the PROC gene. These mutations disrupt the protein's ability to control blood clotting. If protein C cannot control blood clotting, abnormal blood clots may form. Acquired protein C deficiency may be caused by large blood clots, liver disease, disseminated intravascular coagulation (DIC), infection (sepsis), and vitamin K deficiency. Treatment with warfarin or certain types of chemotherapy can also cause acquired protein C deficiency.
Question: What is (are) Danon disease ?

Answer: Danon disease is a type of lysosomal storage disorder. Lysosomes are compartments within the cell that use enzymes to break down large molecules into smaller ones that the cell can use. In Danon disease there is a defect in the wall (membrane) of the lysosome. The defect is caused by mutations in the LAMP2 gene. Danon disease is chiefly characterized by cardiomyopathy (heart disease), although other signs and symptoms may occur as well. Danon disease is inherited in an X-linked fashion, as a result males tend to be more severely affected than females. Females who carry the LAMP2 gene mutation may or may not develop signs and symptoms.
Question: What is (are) Hemoglobin E disease ?

Answer: Hemoglobin E (HbE) disease is an inherited blood disorder characterized by an abnormal form of hemoglobin, called hemoglobin E. People with this condition have red blood cells that are smaller than normal and have an irregular shape. HbE disease is thought to be a benign condition. It is inherited in an autosomal recessive pattern and is caused by a particular mutation in the HBB gene. The mutation that causes hemoglobin E disease has the highest frequency among people of Southeast Asian heritage (Cambodian, Laotian, Vietnamese and Thai). However, it is also found in people of Chinese, Filipino, Asiatic Indian, and Turkish descent.
Question: What is (are) Chandler's syndrome ?

Answer: Chandler's syndrome is a rare eye disorder in which the single layer of cells lining the interior of the cornea proliferates, causing changes within the iris, corneal swelling, and unusually high pressure in the eye (glaucoma). This condition is one of three syndromes, along with progressive iris atrophy and Cogan-Reese syndrome, that make up the iridocorneal endothelial (ICE) syndrome. In most cases, only one eye is affected. Symptoms may include reduced vision and pain. Chandler's syndrome more often affects females and usually presents sometime during middle age. The cause of this disease is unknown.
Question: What is (are) Desmoplastic small round cell tumor ?

Answer: Desmoplastic small round cell tumors (DSRCT), a rare malignant cancer, is a soft tissue sarcoma that usually affects young boys and men and is found most often in the abdomen. Its name means that it is formed by small, round cancer cells surrounded by scarlike tissue. The most common symptoms include abdominal pain, abdominal mass and symptoms of gastrointestinal obstruction. DSRCTs are treated first with chemotherapy, then with surgery to remove the tumor, if possible. Radiation therapy is sometimes given, depending on the tumor. In addition, some people with DSRCT are candidates for a bone marrow transplant.
Question: What is (are) Fournier gangrene ?

Answer: Fournier gangrene refers to the death of body tissue of the genitals and/or perineum. Signs and symptoms of the condition include genital pain, tenderness, redness, and swelling with a rapid progression to gangrene. Although the condition can affect men and women of all ages, it is most commonly diagnosed in adult males. Most cases of Fournier gangrene are caused by an infection in the genital area or urinary tract. People with impaired immunity (i.e. due to diabetes or HIV) have an increased susceptibility to the condition. Treatment generally includes surgery and medications such as antibiotics and/or antifungal therapy.
Question: What is (are) Pachydermoperiostosis ?

Answer: Pachydermoperiostosis is a rare disorder characterized by clubbing of the fingers and toes; thickening of the skin of the face (pachyderma); excessive sweating (hyperhidrosis); and new bone formation associated with joint pain. Other features may include congenital heart disease and delayed closure of fontanelles. This condition typically appears during childhood or adolescence, often around the time of puberty, and progresses slowly for about ten years. Both autosomal dominant and autosomal recessive inheritance has been reported. Mutations in the HPGD gene have been found in those with the autosomal recessive form of this condition.
Question: What causes Uncombable hair syndrome ?

Answer: What causes uncombable hair syndrome? The stiffness of the hair in uncombable hair syndrome (UHS) is likely due to the triangular shape of the hair shaft that is seen in cross section in affected people. It has been suggested that the condition may result from premature keratinization (development of keratin) of the inner root sheath, which forms the channel for the growing hair. The inner root sheath conforms in configuration to the abnormal outline of the hair shaft. It thus forms an irregular, rigid tube that then alters the shape of the emerging hair. While it is assumed that the condition is autosomal dominant and thus due to changes (mutations) in a gene, no responsible gene has been identified.
Question: how is botulism diagnosed?

Answer: Physicians may consider the diagnosis if the patient's history and physical examination suggest botulism. However, these clues are usually not enough to allow a diagnosis of botulism. Other diseases such as Guillain-Barré syndrome, stroke, and myasthenia gravis can appear similar to botulism, and special tests may be needed to exclude these other conditions. These tests may include a brain scan, spinal fluid examination, nerve conduction test (electromyography, or EMG), and a tensilon test for myasthenia gravis. Tests for botulinum toxin and for bacteria that cause botulism can be performed at some state health department laboratories and at CDC.
Question: what research (or clinical trials) is being done for Dementia With Lewy Bodies ?

Answer: The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health conduct research related to DLB in laboratories at the NIH and support additional research through grants to major medical institutions across the country. Much of this research focuses on searching for the genetic roots of DLB, exploring the molecular mechanisms of alpha-synuclein accumulation, and discovering how Lewy bodies cause the particular symptoms of DLB and the other synucleinopathies. The goal of NINDS research is to find better ways to prevent, treat, and ultimately cure disorders such as DLB.
Question: What are the treatments for Muscular Dystrophy ?

Answer: There is no specific treatment to stop or reverse any form of MD. Treatment may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, and corrective orthopedic surgery. Drug therapy includes corticosteroids to slow muscle degeneration, anticonvulsants to control seizures and some muscle activity, immunosuppressants to delay some damage to dying muscle cells, and antibiotics to fight respiratory infections. Some individuals may benefit from occupational therapy and assistive technology. Some patients may need assisted ventilation to treat respiratory muscle weakness and a pacemaker for cardiac abnormalities.
Question: what research (or clinical trials) is being done for Inclusion Body Myositis ?

Answer: The National Institute of Neurological Disorders and Stroke (NINDS), National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institute of Environmental Health Sciences (NIEHS) and other institutes of the National Institutes of Health (NIH) conduct research relating to IBM in laboratories at the NIH and support additional research through grants to major medical institutions across the country. Currently funded research is exploring patterns of gene expression among the inflammatory myopathies, the role of viral infection as a precursor to the disorders, and the safety and efficacy of various treatment regimens.
Question: What are the genetic changes related to 22q11.2 duplication ?

Answer: People with 22q11.2 duplication have an extra copy of some genetic material at position q11.2 on chromosome 22. In most cases, this extra genetic material consists of a sequence of about 3 million DNA building blocks (base pairs), also written as 3 megabases (Mb).  The 3 Mb duplicated region contains 30 to 40 genes. For many of these genes, little is known about their function. A small percentage of affected individuals have a shorter duplication in the same region. Researchers are working to determine which duplicated genes may contribute to the developmental delay and other problems that sometimes affect people with this condition.
Question: How many people are affected by familial thoracic aortic aneurysm and dissection ?

Answer: Familial TAAD is believed to account for at least 20 percent of thoracic aortic aneurysms and dissections. In the remainder of cases, the abnormalities are thought to be caused by factors that are not inherited, such as damage to the walls of the aorta from aging, tobacco use, injury, or disease.  While aortic aneurysms are common worldwide, it is difficult to determine their exact prevalence because they usually cause no symptoms unless they rupture. Ruptured aortic aneurysms and dissections are estimated to cause almost 30,000 deaths in the United States each year.
Question: What are the genetic changes related to isolated Duane retraction syndrome ?

Answer: In most people with isolated Duane retraction syndrome, the cause of the condition is unknown. However, researchers have identified mutations in one gene, CHN1, that cause the disorder in a small number of families. The CHN1 gene provides instructions for making a protein that is involved in the early development of the nervous system. Specifically, the protein appears to be critical for the formation of nerves that control several of the muscles surrounding the eyes (extraocular muscles). Mutations in the CHN1 gene disrupt the normal development of these nerves and the extraocular muscles needed for side-to-side eye movement. Abnormal function of these muscles leads to restricted eye movement and related problems with vision.
Question: What are the treatments for Wiskott-Aldrich syndrome ?

Answer: These resources address the diagnosis or management of Wiskott-Aldrich syndrome:  - Gene Review: Gene Review: WAS-Related Disorders  - Genetic Testing Registry: Wiskott-Aldrich syndrome  - MedlinePlus Encyclopedia: Thrombocytopenia  - National Marrow Donor Program  - Rare Disease Clinical Research Network: Primary Immune Deficiency Treatment Consortium   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