umarjan11/Medical-qna huggingface dataset:
Question: What is (are) Hemolytic uremic syndrome ?

Answer: Hemolytic uremic syndrome (HUS) is a disorder that usually occurs when an  E. coli bacterial infection in the digestive system produces toxic substances that destroy red blood cells. Symptoms include vomiting and diarrhea, fever, lethargy, and weakness. In severe cases it can lead to kidney failure or death. While this condition is most common in children, it often has a more complicated presentation in adults. Treatment may include dialysis, corticosteroids, transfusions of packed red blood cells and plasmapheresis.   Hemolytic uremic syndrome should be distinguished from atypical hemolytic uremic syndrome (aHUS). The two conditions have different causes and different signs and symptoms.
Question: What is (are) Limb-girdle muscular dystrophy ?

Answer: Limb-girdle muscular dystrophy is a group of disorders which affect the voluntary muscles around the hips and shoulders. The conditions are progressive, leading to a loss of muscle strength and bulk over a number of years. Onset may occur in childhood, adolescence, young adulthood, or even later. Males and females are affected in equal numbers. Most forms of limb girdle muscular dystrophy are inherited in an autosomal recessive manner. Several rare forms are inherited in an autosomal dominant pattern. While there are no treatments which directly reverse the muscle weakness associated with this condition, supportive treatment can decrease the complications. There are at least 20 different types of limb-girdle muscular dystrophy.
Question: What is (are) Lujan syndrome ?

Answer: Lujan syndrome is a condition characterized by intellectual disability, behavioral problems, and poor muscle tone (hypotonia). Affected people also tend to have characteristic physical features such as a tall and thin body; a large head (macrocephaly); and a thin face with distinctive facial features (prominent top of the nose, short space between the nose and the upper lip, narrow roof of the mouth, crowded teeth and a small chin). Most of the cases occur in males. Lujan syndrome is caused by changes (mutations) in the MED12 gene and is inherited in an X-linked manner. Treatment is based on the signs and symptoms present in each person and may include special education; physical therapy, occupational therapy, and speech therapy for developmental delays; and medications to control seizures.
Question: What is (are) Hereditary neuralgic amyotrophy ?

Answer: Hereditary neuralgic amyotrophy is a type of nervous system disease that affects the brachial plexus. Common signs and symptoms include episodes of severe pain and muscle wasting in one or both shoulders and arms.  Attacks may be spontaneous or triggered (e.g., by exercise, childbirth, surgery, infection etc.).  Secondary complications, such as decreased sensation, abnormal sensations (e.g., numbness and tingling), chronic pain, and impaired movement may develop overtime. Affected members in some families may share additional distinct physical and facial characteristics. Hereditary neuralgic amyotrophy can be caused by mutations in the SEPT9 gene.  It is inherited in an autosomal dominant fashion.
Question: What is (are) Brachydactyly type C ?

Answer: Brachydactyly type C is a very rare congenital condition that is characterized by shortening of certain bones in the index, middle and little fingers. The bones of the ring finger are typically normal. Other abnormalities may also be present such as hypersegmentation (extra bones) of the index and middle fingers; ulnar deviation (angled towards the fifth finger) of the index finger; and unusually-shaped bones and/or epiphysis (end of a long bone). Brachydactyly type C is typically caused by changes (mutations) in the GDF5 gene and is inherited in an autosomal dominant manner. Treatment varies based on the severity of the condition. Physical therapy and/or plastic surgery may be indicated if the condition affects hand function.
Question: What are the treatments for Spinocerebellar ataxia 2 ?

Answer: How might spinocerebellar ataxia 2 be treated? Treatment of spinocerebellar ataxia 2 (SCA2) is supportive and aims to help the affected person maintain their independence and avoid injury. It is recommended that people with SCA2 remain physically active, maintain a healthy weight, use adaptive equipment as needed, and avoid alcohol and medications that affect cerebellar function. Adaptive equipment may include canes or other devices to help with walking and mobility. People with SCA2 may develop difficulty speaking and may need to use computerized devices or writing pads to help with communication. Levodopa may be prescribed to help with some of the movement problems (e.g., rigidity and tremor), and magnesium may improve muscle cramping.
Question: What is (are) Glycogen storage disease type 4 ?

Answer: Glycogen storage disease type 4 (GSD 4) is part of a group of disorders which lead to abnormal accumulation of glycogen (a storage form of glucose) in various parts of the body. Symptoms of GSD 4 usually begin in infancy and typically include failure to thrive; enlarged liver and spleen (hepatosplenomegaly); and in many cases, progressive liver cirrhosis and liver failure. In rare cases individuals may have a form with non-progressive liver disease, or a severe neuromuscular form. GSD 4 is caused by mutations in the GBE1 gene and is inherited in an autosomal recessive manner. Treatment typically focuses on the specific symptoms that are present in each individual.
Question: What are the genetic changes related to hypochondroplasia ?

Answer: About 70 percent of all cases of hypochondroplasia are caused by mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Although it remains unclear how FGFR3 mutations lead to the features of hypochondroplasia, researchers believe that these genetic changes cause the protein to be overly active. The overactive FGFR3 protein likely interferes with skeletal development and leads to the disturbances in bone growth that are characteristic of this disorder.  In the absence of a mutation in the FGFR3 gene, the cause of hypochondroplasia is unknown. Researchers suspect that mutations in other genes are involved, although these genes have not been identified.
Question: What are the treatments for Stickler syndrome ?

Answer: These resources address the diagnosis or management of Stickler syndrome:  - Gene Review: Gene Review: Stickler Syndrome  - Genetic Testing Registry: Marshall syndrome  - Genetic Testing Registry: Stickler syndrome  - MedlinePlus Encyclopedia: Pierre Robin Syndrome  - Merck Manual Consumer Version: Detachment of the Retina  - Stickler Involved People: Clinical Characteristics & Diagnostic Criteria  - Stickler Involved People: Stickler Syndrome Recognition, Diagnosis, Treatment   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: Is tuberous sclerosis complex inherited ?

Answer: Tuberous sclerosis complex has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing tumors and other problems with development. In about one-third of cases, an affected person inherits an altered TSC1 or TSC2 gene from a parent who has the disorder. The remaining two-thirds of people with tuberous sclerosis complex are born with new mutations in the TSC1 or TSC2 gene. These cases, which are described as sporadic, occur in people with no history of tuberous sclerosis complex in their family. TSC1 mutations appear to be more common in familial cases of tuberous sclerosis complex, while mutations in the TSC2 gene occur more frequently in sporadic cases.
Question: What are the treatments for celiac disease ?

Answer: These resources address the diagnosis or management of celiac disease:  - Beth Israel Deaconess: Celiac Center  - Columbia University Celiac Disease Center  - Gene Review: Gene Review: Celiac Disease  - Genetic Testing Registry: Celiac disease  - Massachusetts General Hospital Center for Celiac Research and Treatment  - MedlinePlus Encyclopedia: Celiac Disease Nutritional Considerations  - North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition: Gluten-Free Diet Guide  - University of Chicago Celiac Disease Center   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: How many people are affected by Usher syndrome ?

Answer: Usher syndrome is thought to be responsible for 3 percent to 6 percent of all childhood deafness and about 50 percent of deaf-blindness in adults. Usher syndrome type I is estimated to occur in at least 4 per 100,000 people. It may be more common in certain ethnic populations, such as people with Ashkenazi (central and eastern European) Jewish ancestry and the Acadian population in Louisiana. Type II is thought to be the most common form of Usher syndrome, although the frequency of this type is unknown. Type III Usher syndrome accounts for only a small percentage of all Usher syndrome cases in most populations. This form of the condition is more common in the Finnish population, however, where it accounts for about 40 percent of all cases.
Question: What are the treatments for dyskeratosis congenita ?

Answer: These resources address the diagnosis or management of dyskeratosis congenita:  - Gene Review: Gene Review: Dyskeratosis Congenita  - Genetic Testing Registry: Dyskeratosis congenita  - Genetic Testing Registry: Dyskeratosis congenita X-linked  - Genetic Testing Registry: Dyskeratosis congenita autosomal dominant  - Genetic Testing Registry: Dyskeratosis congenita autosomal recessive 1  - Seattle Children's Hospital   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: Is isolated ectopia lentis inherited ?

Answer: When isolated ectopia lentis is caused by mutations in the FBN1 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 some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.  When isolated ectopia lentis is caused by mutations in the ADAMTSL4 gene, it 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 are the genetic changes related to Pfeiffer syndrome ?

Answer: Pfeiffer syndrome results from mutations in the FGFR1 or FGFR2 gene. These genes provide instructions for making proteins known as fibroblast growth receptors 1 and 2. Among their multiple functions, these proteins signal immature cells to become bone cells during embryonic development. A mutation in either the FGFR1 or FGFR2 gene alters protein function and causes prolonged signaling, which can promote the premature fusion of skull bones and affect the development of bones in the hands and feet.  Type 1 Pfeiffer syndrome is caused by mutations in either the FGFR1 or FGFR2 gene. Types 2 and 3 are caused by mutations in the FGFR2 gene, and have not been associated with changes in the FGFR1 gene.
Question: What is (are) Inguinal Hernia ?

Answer: An inguinal hernia happens when contents of the abdomenusually fat or part of the small intestinebulge through a weak area in the lower abdominal wall. The abdomen is the area between the chest and the hips. The area of the lower abdominal wall is also called the inguinal or groin region.
                
Two types of inguinal hernias are
                
- indirect inguinal hernias, which are caused by a defect in the abdominal wall that is congenital, or present at birth  - direct inguinal hernias, which usually occur only in male adults and are caused by a weakness in the muscles of the abdominal wall that develops over time
                
Inguinal hernias occur at the inguinal canal in the groin region.
Question: What are the symptoms of Stroke ?

Answer: Warning signs are clues your body sends to tell you that your brain is not receiving enough oxygen. These are warning signs of a stroke, or brain attack: - sudden numbness or weakness of the face, arm, or leg, especially on one side of the body  - sudden confusion, trouble speaking or understanding  - sudden trouble seeing in one or both eyes  - sudden trouble walking, dizziness, loss of balance or coordination  - sudden severe headache with no known cause. sudden numbness or weakness of the face, arm, or leg, especially on one side of the body sudden confusion, trouble speaking or understanding sudden trouble seeing in one or both eyes sudden trouble walking, dizziness, loss of balance or coordination sudden severe headache with no known cause. If you observe one or more of these signs, don't wait. Call 911 right away!
Question: What is (are) Infections and Pregnancy ?

Answer: If you are pregnant, an infection can be more than just a problem for you. Some infections can be dangerous to your baby. You can help yourself avoid infections:       - Don't eat raw or undercooked meat    - Don't share food or drinks with other people    - Wash your hands frequently    - Don't empty cat litter. Cats can transmit toxoplasmosis.       You may need to take medicines or get a vaccine to prevent an infection in your baby. For example, you may need to take antibiotics if you develop an infection with group B strep, or take medicines if you have genital herpes. Only some medicines and vaccines are safe during pregnancy. Ask your health care provider about how best to protect you and your baby.
Question: What is (are) Breathing Problems ?

Answer: When you're short of breath, it's hard or uncomfortable for you to take in the oxygen your body needs. You may feel as if you're not getting enough air. Sometimes mild breathing problems are from a stuffy nose or hard exercise. But shortness of breath can also be a sign of a serious disease.    Many conditions can make you feel short of breath. Lung conditions such as asthma, emphysema or pneumonia cause breathing difficulties. So can problems with your trachea or bronchi, which are part of your airway system. Heart disease can make you feel breathless if your heart cannot pump enough blood to supply oxygen to your body. Stress caused by anxiety can also make it hard for you to breathe. If you often have trouble breathing, it is important to find out the cause.
Question: What is (are) Intestinal Cancer ?

Answer: Your small intestine is part of your digestive system. It is a long tube that connects your stomach to your large intestine. Intestinal cancer is rare, but eating a high-fat diet or having Crohn's disease, celiac disease, or a history of colonic polyps can increase your risk.    Possible signs of small intestine cancer include       - Abdominal pain    - Weight loss for no reason    - Blood in the stool    - A lump in the abdomen       Imaging tests that create pictures of the small intestine and the area around it can help diagnose intestinal cancer and show whether it has spread.    Surgery is the most common treatment. Additional options include chemotherapy, radiation therapy, or a combination.    NIH: National Cancer Institute
Question: What causes 3-Hydroxyisobutyric aciduria ?

Answer: What causes 3-hydroxyisobutyric aciduria? In many affected people, the exact underlying cause of 3-hydroxyisobutyric aciduria is poorly understood. Scientists believe that some cases are caused by changes (mutations) in the ALDH6A1 gene. This gene encodes an enzyme called methylmalonate semialdehyde dehydrogenase, which helps the body break down certain amino acids (the building blocks of protein) found in food. If this gene isn't working properly, the body is unable to break down the amino acids valine and thymine which leads to a build-up of toxic substances in the body and the many signs and symptoms of 3-hydroxyisobutyric aciduria.
Question: Is Schwartz Jampel syndrome type 1 inherited ?

Answer: How is Schwartz Jampel syndrome type 1 inherited? The majority of cases of Schwartz Jampel syndrome type 1 (SJS1) are inherited in an autosomal recessive pattern. This means that to have the disorder, a person must have a mutation in both copies of the responsible gene in each cell. Individuals with SJS1 inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). Rarely, cases of SJS1 with autosomal dominant inheritance have been reported. This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition.
Question: Is Congenital adrenal hyperplasia inherited ?

Answer: How is congenital adrenal hyperplasia inherited? All forms of congenital adrenal hyperplasia (CAH) are inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
Question: Is Usher syndrome, type 1E inherited ?

Answer: How is Usher syndrome inherited? Usher syndrome is inherited in an autosomal recessive manner. This means that a person must have a change (mutation) in both copies of the disease-causing gene in each cell to have Usher syndrome. One mutated copy is typically inherited from each parent, who are each referred to as a carrier. Carriers of an autosomal recessive condition usually do not have any signs or symptoms. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to not be a carrier and not be affected.
Question: What are the treatments for Parsonage Turner syndrome ?

Answer: How might Parsonage Turner syndrome be treated? Treatment for Parsonage Turner syndrome (PTS) varies based on the signs and symptoms present in each person. For example, pain medications may be prescribed depending on the severity of the nerve pain. Other techniques for pain management include application of heat or cold and transcutaneous electrical nerve stimulation (a method of pain relief in which a special device transmits low-voltage electrical impulses through electrodes on the skin to an area of the body that is in pain). Many affected people undergo physical therapy and/or occupational therapy to maintain muscle strength and range of motion of affected joints once the pain begins to subside. Surgeries to restore movement and function to the shoulder muscles and joint may be considered if other treatment options are not effective.
Question: Is Arts syndrome inherited ?

Answer: How is Arts syndrome inherited? Arts syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only 1 X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell sometimes causes the disorder. Females with one copy of the mutated gene are typically much less severely affected.by Arts syndrome than males. In many cases, they do not experience any symptoms.  In the small number of Arts syndrome cases that have been identified, affected individuals have inherited the mutation from a mother who carries an altered copy of the PRPS1 gene.
Question: What is (are) Autosomal dominant neuronal ceroid lipofuscinosis 4B ?

Answer: Autosomal dominant neuronal ceroid lipofuscinosis 4B is a form of adult neuronal ceroid lipofuscinosis, which is a rare condition that affects the nervous system. Signs and symptoms usually begin around age 30, but they can develop anytime between adolescence and late adulthood. Affected people generally experience behavioral abnormalities, dementia; difficulties with muscle coordination (ataxia); and involuntary movements such as tremors or tics. It can be caused by changes (mutations) in the DNAJC5 or CTSF gene and is inherited in an autosomal dominant manner. Treatment options are limited to therapies that can help relieve some of the symptoms.
Question: What is (are) Microcystic adnexal carcinoma ?

Answer: Microcystic adnexal carcinoma is a rare tumor of the skin that most often develops in the head and neck region, particularly in the middle of the face, though it may occur in the skin of other parts of the body as well.  The average age of diagnosis is 56.  This tumor is often first noticed as a bump or yellowish spot in the skin.  Though microcystic adnexal carcinomas frequently grow into and disturb nearby tissues and is therefore considered an invasive cancer, this type of tumor rarely spreads to more distant parts of the body (metastasizes). The main treatment for microcystic adnexal carcinoma is Mohs micrographic surgery, which is thought to improve the chances that all of the tumor cells are removed during surgery.
Question: What is (are) Parasites - Babesiosis ?

Answer: Babesiosis is caused by microscopic parasites that infect red blood cells. Most human cases of Babesia infection in the United States are caused by the parasite Babesia microti. Occasional cases caused by other species (types) of Babesia have been detected. Babesia microti is spread in nature by Ixodes scapularis ticks (also called blacklegged ticks or deer ticks). Tickborne transmission is most common in particular regions and seasons: it mainly occurs in parts of the Northeast and upper Midwest; and it usually peaks during the warm months. Babesia infection can range in severity from asymptomatic to life threatening. The infection is both treatable and preventable.
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Question: How to diagnose Parasites - Cysticercosis ?

Answer: If you think that you may have cysticercosis, please see your health care provider. Your health care provider will ask you about your symptoms, where you have travelled, and what kinds of foods you eat. The diagnosis of neurocysticercosis usually requires MRI or CT brain scans. Blood tests may be useful to help diagnose an infection, but they may not always be positive in light infections.
  
If you have been diagnosed with cysticercosis, you and your family members should be tested for intestinal tapeworm infection. See the taeniasis section for more information on intestinal tapeworm infections.  
  
More on: Taeniasis
  
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