umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Autosomal recessive hyper IgE syndrome ?

Answer: What are the signs and symptoms of Autosomal recessive hyper IgE syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Autosomal recessive hyper IgE syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Asthma 90% Cellular immunodeficiency 90% Decreased antibody level in blood 90% Eczema 90% Otitis media 90% Sinusitis 90% Skin ulcer 90% Verrucae 90% Atopic dermatitis - Autosomal recessive inheritance - Cerebral vasculitis - Eosinophilia - Hemiplegia - Infantile onset - Neoplasm - Recurrent bacterial infections - Recurrent fungal infections - Recurrent sinopulmonary infections - Recurrent viral infections - Subarachnoid hemorrhage - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the symptoms of Bilateral perisylvian polymicrogyria ?

Answer: What are the signs and symptoms of Bilateral perisylvian polymicrogyria? The signs and symptoms of bilateral perisylvian polymicrogyria (BPP) vary but may include: Partial paralysis of muscles on both sides of the face, tongue, jaws, and throat  Dysarthria Difficulty chewing Dysphagia Mild to severe intellectual disability Seizures and/or epilepsy Sudden, involuntary spasms of facial muscles Developmental delay The Human Phenotype Ontology provides the following list of signs and symptoms for Bilateral perisylvian polymicrogyria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Atypical absence seizures - Cognitive impairment - Delayed speech and language development - Dyslexia - Generalized tonic-clonic seizures - Polymicrogyria - Pseudobulbar paralysis - X-linked dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What is (are) osteoglophonic dysplasia ?

Answer: Osteoglophonic dysplasia is a condition characterized by abnormal bone growth that leads to severe head and face (craniofacial) abnormalities, dwarfism, and other features. The term osteoglophonic refers to the bones (osteo-) having distinctive hollowed out (-glophonic) areas that appear as holes on x-ray images.  Premature fusion of certain bones in the skull (craniosynostosis) typically occurs in osteoglophonic dysplasia. The craniosynostosis associated with this disorder may give the head a tall appearance, often referred to in the medical literature as a tower-shaped skull, or a relatively mild version of a deformity called a cloverleaf skull. Characteristic facial features in people with osteoglophonic dysplasia include a prominent forehead (frontal bossing), widely spaced eyes (hypertelorism), flattening of the bridge of the nose and of the middle of the face (midface hypoplasia), a large tongue (macroglossia), a protruding jaw (prognathism), and a short neck. People with this condition usually have no visible teeth because the teeth never emerge from the jaw (clinical anodontia). In addition, the gums are often overgrown (hypertrophic gingiva).  Infants with osteoglophonic dysplasia often experience failure to thrive, which means they do not gain weight and grow at the expected rate. Affected individuals have short, bowed legs and arms and are short in stature. They also have flat feet and short, broad hands and fingers.  The life expectancy of people with osteoglophonic dysplasia depends on the extent of their craniofacial abnormalities; those that obstruct the air passages and affect the mouth and teeth can lead to respiratory problems and cause difficulty with eating and drinking. Despite the skull abnormalities, intelligence is generally not affected in this disorder.
Question: What is (are) Lafora progressive myoclonus epilepsy ?

Answer: Lafora progressive myoclonus epilepsy is a brain disorder characterized by recurrent seizures (epilepsy) and a decline in intellectual function. The signs and symptoms of the disorder usually appear in late childhood or adolescence and worsen with time.  Myoclonus is a term used to describe episodes of sudden, involuntary muscle jerking or twitching that can affect part of the body or the entire body. Myoclonus can occur when an affected person is at rest, and it is made worse by motion, excitement, or flashing light (photic stimulation). In the later stages of Lafora progressive myoclonus epilepsy, myoclonus often occurs continuously and affects the entire body.  Several types of seizures commonly occur in people with Lafora progressive myoclonus epilepsy. Generalized tonic-clonic seizures (also known as grand mal seizures) affect the entire body, causing muscle rigidity, convulsions, and loss of consciousness. Affected individuals may also experience occipital seizures, which can cause temporary blindness and visual hallucinations. Over time, the seizures worsen and become more difficult to treat. A life-threatening seizure condition called status epilepticus may also develop. Status epilepticus is a continuous state of seizure activity lasting longer than several minutes.  About the same time seizures begin, intellectual function starts to decline. Behavioral changes, depression, confusion, and speech difficulties (dysarthria) are among the early signs and symptoms of this disorder. As the condition progresses, a continued loss of intellectual function (dementia) impairs memory, judgment, and thought. Affected people lose the ability to perform the activities of daily living by their mid-twenties, and they ultimately require comprehensive care. People with Lafora progressive myoclonus epilepsy generally survive up to 10 years after symptoms first appear.
Question: Is hypohidrotic ectodermal dysplasia inherited ?

Answer: Hypohidrotic ectodermal dysplasia has several different inheritance patterns. Most cases are caused by mutations in the EDA gene, which are inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene 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. Males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.  In X-linked recessive inheritance, a female with one altered copy of the gene in each cell is called a carrier. In about 70 percent of cases, carriers of hypohidrotic ectodermal dysplasia experience some features of the condition. These signs and symptoms are usually mild and include a few missing or abnormal teeth, sparse hair, and some problems with sweat gland function. Some carriers, however, have more severe features of this disorder.  Less commonly, hypohidrotic ectodermal dysplasia results from mutations in the EDAR or EDARADD gene. EDAR mutations can have an autosomal dominant or autosomal recessive pattern of inheritance, and EDARADD mutations have an autosomal recessive pattern of inheritance. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. Autosomal recessive inheritance means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene but do not show signs and symptoms of the disorder.
Question: What to do for Dumping Syndrome ?

Answer: The first step to minimizing symptoms of dumping syndrome involves changes in eating, diet, and nutrition, and may include
                
- eating five or six small meals a day instead of three larger meals  - delaying liquid intake until at least 30 minutes after a meal  - increasing intake of protein, fiber, and complex carbohydratesfound in starchy foods such as oatmeal and rice  - avoiding simple sugars such as table sugar, which can be found in candy, syrup, sodas, and juice beverages  - increasing the thickness of food by adding pectin or guar gumplant extracts used as thickening agents
                
Some people find that lying down for 30 minutes after meals also helps reduce symptoms.
                
Medication
                
A health care provider may prescribe octreotide acetate (Sandostatin) to treat dumping syndrome symptoms. The medication works by slowing gastric emptying and inhibiting the release of insulin and other GI hormones. Octreotide comes in short- and long-acting formulas. The short-acting formula is injected subcutaneouslyunder the skinor intravenouslyinto a veintwo to four times a day. A health care provider may perform the injections or may train the patient or patient's friend or relative to perform the injections. A health care provider injects the long-acting formula into the buttocks muscles once every 4 weeks. Complications of octreotide treatment include increased or decreased blood glucose levels, pain at the injection site, gallstones, and fatty, foul-smelling stools.
                
Surgery
                
A person may need surgery if dumping syndrome is caused by previous gastric surgery or if the condition is not responsive to other treatments. For most people, the type of surgery depends on the type of gastric surgery performed previously. However, surgery to correct dumping syndrome often has unsuccessful results.
Question: What is the outlook for Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies ?

Answer: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options for childhood AML depend on the following:         - The age of the child when the cancer is diagnosed.    - The race or ethnic group of the child.    - Whether the child is greatly overweight.    -  Number of white blood cells in the blood at diagnosis.    - Whether the AML occurred after previous cancer treatment.    - The subtype of AML.    - Whether there are certain chromosome or gene changes in the leukemia cells.    - Whether the child has Down syndrome. Most children with AML and Down syndrome can be cured of their leukemia.    - Whether the leukemia is in the central nervous system (brain and spinal cord).    - How quickly the leukemia responds to treatment.    - Whether the AML is newly diagnosed (untreated) or has recurred (come back) after being treated.    - The length of time since treatment ended, for AML that has recurred.        The prognosis and treatment options for childhood CML depend on how long it has been since the patient was diagnosed and how many blast cells are in the blood.   The prognosis (chance of recovery) and treatment options for JMML depend on the following:         - The age of the child when the cancer is diagnosed.    - The type of gene affected and the number of genes that have changes.    - How many red blood cells, white blood cells, or platelets are in the blood.    - Whether the JMML is newly diagnosed (untreated) or has recurred after treatment.        The prognosis (chance of recovery) and treatment options for MDS depend on the following:         - Whether the MDS was caused by previous cancer treatment.    - How low the numbers of red blood cells, white blood cells, or platelets are.    - Whether the MDS is newly diagnosed (untreated) or has recurred after treatment.
Question: What are the treatments for Diffuse idiopathic skeletal hyperostosis ?

Answer: How might diffuse idiopathic skeletal hyperostosis be treated? Treatment of diffuse idiopathic skeletal hyperostosis (DISH) is focused on the signs and symptoms present in each person. For example, pain caused by DISH is often treated with pain relievers, such as acetaminophen (Tylenol, others) or nonsteroidal anti-inflammatory drugs (NSAIDs), such as ibuprofen (Advil, Motrin, others). Affected people with severe pain may be treated with corticosteroid injections. Physical therapy and/or exercise may reduce the stiffness associated with DISH and can help increase range of motion in the joints. In rare cases, surgery may be necessary if severe complications develop. For example, people who experience difficulty swallowing may need surgery to remove the bone spurs in the neck. How might severe diffuse idiopathic skeletal hyperostosis (DISH) be treated? Although diffuse idiopathic skeletal hyperostosis (DISH) affects 25% of men and 15% of women over the age of 50 years old, many affected people do not have symptoms. However some people with DISH have stiffness and pain, most commonly in the spinal region or back.  In rare cases the joint stiffness and pain is severe and the areas of the spine affected by DISH may have very limited movement. Knees, hips, hands and other joints may also be affected, more commonly in the more severe cases. Therapy for DISH is based on symptoms. In general, physical therapy, analgesics, sedation, anti-inflammatory drugs, and muscle relaxants have all been successful in managing the majority of patients with DISH. Even though few studies have focused on indications for surgery, it is generally accepted that surgery is indicated for patients with severe symptoms (such as airway obstruction and/or dysphagia) in whom conservative approach has failed.
Question: What are the treatments for Chronic fatigue syndrome ?

Answer: How might chronic fatigue syndrome be treated? Treatment options for chronic fatigue syndrome (CFS) are limited.[9440] Treatment is largely supportive and is focused on the specific symptoms present in each individual. In most cases, symptoms of CFS lessen over time. Many therapies have been tried, but only cognitive behavioral therapy (CBT) and graded exercise therapy reportedly appear to produce meaningful benefit. CBT typically involves a series of one-hour sessions designed to alter beliefs and behaviors that might delay recovery. Graded exercise therapy can be beneficial because prolonged lack of exercise may worsen the symptoms of the condition and should be discouraged.[9440] Gradual introduction of regular aerobic exercise, such as walking, swimming, cycling, or jogging, under close medical supervision may reduce fatigue and improve physical function. The goal is to have 30 minutes of light exercise five times a week. To avoid overexertion it is recommended to set a target heart rate range, generally <100 beats per minute. Graded exercise should be always supervised by a physical therapist or exercise therapist. In some studies, women with this condition were found to have low normal fitness on treadmill testing with no indication of heart or lung problems. Maximal testing did not result in worse fatigue or other symptoms. Because many people who have CFS are also depressed, treating the depression can make it easier to cope with the problems associated with CFS. Low doses of some antidepressants may help improve sleep and relieve pain.[6269] A number of medications, special diets and vitamin supplements have been evaluated in individuals with CFS, but none have been proven effective. Although there have been a number of viruses that were initially reported to cause CFS, additional studies have not proven this.[9440] Trials of antiviral agents have been ineffective in relieving the symptoms of CFS. Several clinical trials aiming to find effective treatment are currently ongoing.
Question: What causes Aplastic Anemia ?

Answer: Damage to the bone marrow's stem cells causes aplastic anemia. When stem cells are damaged, they don't grow into healthy blood cells.
                
The cause of the damage can be acquired or inherited. "Acquired" means you aren't born with the condition, but you develop it. "Inherited" means your parents passed the gene for the condition on to you.
                
Acquired aplastic anemia is more common, and sometimes it's only temporary. Inherited aplastic anemia is rare.
                
In many people who have aplastic anemia, the cause is unknown. Some research suggests that stem cell damage may occur because the body's immune system attacks its own cells by mistake.
                
Acquired Causes
                
Many diseases, conditions, and factors can cause aplastic anemia, including:
                
Toxins, such as pesticides, arsenic, and benzene.
                
Radiation and chemotherapy (treatments for cancer).
                
Medicines, such as chloramphenicol (an antibiotic rarely used in the United States).
                
Infectious diseases, such as hepatitis, Epstein-Barr virus, cytomegalovirus (si-to-MEG-ah-lo-VI-rus), parvovirus B19, and HIV.
                
Autoimmune disorders, such as lupus and rheumatoid arthritis.
                
Pregnancy. (Aplastic anemia that occurs during pregnancy often goes away after delivery.)
                
Sometimes, cancer from another part of the body can spread to the bone and cause aplastic anemia.
                
Inherited Causes
                
Certain inherited conditions can damage the stem cells and lead to aplastic anemia. Examples include Fanconi anemia, Shwachman-Diamond syndrome, dyskeratosis (DIS-ker-ah-TO-sis) congenita, and Diamond-Blackfan anemia.
Question: What is (are) Iron-Deficiency Anemia ?

Answer: Espaol
                
Iron-deficiency anemia is a common, easily treated condition that occurs if you don't have enough iron in your body. Low iron levels usually are due to blood loss, poor diet, or an inability to absorb enough iron from food.
                
Overview
                
Iron-deficiency anemia is a common type of anemia. The term "anemia" usually refers to a condition in which your blood has a lower than normal number of red blood cells. Red blood cells carry oxygen and remove carbon dioxide (a waste product) from your body.
                
Anemia also can occur if your red blood cells don't contain enough hemoglobin (HEE-muh-glow-bin). Hemoglobin is an iron-rich protein that carries oxygen from the lungs to the rest of the body.
                
Iron-deficiency anemia usually develops over time if your body doesn't have enough iron to build healthy red blood cells. Without enough iron, your body starts using the iron it has stored. Soon, the stored iron gets used up.
                
After the stored iron is gone, your body makes fewer red blood cells. The red blood cells it does make have less hemoglobin than normal.
                
Iron-deficiency anemia can cause fatigue (tiredness), shortness of breath, chest pain, and other symptoms. Severe iron-deficiency anemia can lead to heart problems, infections, problems with growth and development in children, and other complications.
                
Infants and young children and women are the two groups at highest risk for iron-deficiency anemia.
                
Outlook
                
Doctors usually can successfully treat iron-deficiency anemia. Treatment will depend on the cause and severity of the condition. Treatments may include dietary changes, medicines, and surgery.
                
Severe iron-deficiency anemia may require treatment in a hospital, blood transfusions, iron injections, or intravenous iron therapy.
Question: What are the genetic changes related to Gorlin syndrome ?

Answer: Mutations in the PTCH1 gene cause Gorlin syndrome. This gene provides instructions for making a protein called patched-1, which functions as a receptor. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Together, ligands and their receptors trigger signals that affect cell development and function. A protein called Sonic Hedgehog is the ligand for the patched-1 receptor. Patched-1 blocks cell growth and division (proliferation) until Sonic Hedgehog is attached.  The PTCH1 gene is a tumor suppressor gene, which means it stops cells from proliferating too rapidly or in an uncontrolled way. Mutations in this gene prevent the production of patched-1 or lead to the production of an abnormal version of the receptor. An altered or missing patched-1 receptor cannot effectively suppress cell growth and division. As a result, cells proliferate uncontrollably to form the tumors that are characteristic of Gorlin syndrome. It is less clear how PTCH1 gene mutations cause the other signs and symptoms related to this condition.  The characteristic features of Gorlin syndrome can also be associated with a chromosomal change called a 9q22.3 microdeletion, in which a small piece of chromosome 9 is deleted in each cell. This deletion includes the segment of chromosome 9 that contains the PTCH1 gene, and as a result, people with a 9q22.3 microdeletion are missing one copy of this gene. Loss of this gene underlies the signs and symptoms of Gorlin syndrome in people with 9q22.3 microdeletions. Affected individuals also have features that are not typically associated with Gorlin syndrome, including delayed development, intellectual disability, overgrowth of the body (macrosomia), and other physical abnormalities. Researchers believe that these other signs and symptoms may result from the loss of additional genes in the deleted region of chromosome 9.