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

Answer: These resources address the diagnosis or management of congenital hyperinsulinism:  - Gene Review: Gene Review: Familial Hyperinsulinism  - Genetic Testing Registry: Exercise-induced hyperinsulinemic hypoglycemia  - Genetic Testing Registry: Familial hyperinsulinism  - Genetic Testing Registry: Hyperinsulinemic hypoglycemia familial 3  - Genetic Testing Registry: Hyperinsulinemic hypoglycemia familial 5  - Genetic Testing Registry: Hyperinsulinemic hypoglycemia, familial, 4  - Genetic Testing Registry: Hyperinsulinism-hyperammonemia syndrome  - Genetic Testing Registry: Islet cell hyperplasia  - Genetic Testing Registry: Persistent hyperinsulinemic hypoglycemia of infancy  - MedlinePlus Encyclopedia: Neonatal Hypoglycemia  - The Children's Hospital of Philadelphia: Congenital Hyperinsulinism 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: What are the genetic changes related to lamellar ichthyosis ?

Answer: Mutations in one of many genes can cause lamellar ichthyosis. These genes provide instructions for making proteins that are found in the outermost layer of the skin (the epidermis). The skin abnormalities associated with lamellar ichthyosis disrupt the normal formation of the epidermis, resulting in impaired regulation of body temperature, water retention, and resistance to infections.  Mutations in the TGM1 gene are responsible for approximately 90 percent of cases of lamellar ichthyosis. The TGM1 gene provides instructions for making an enzyme called transglutaminase 1. This enzyme is involved in the formation of the cornified cell envelope, which is a structure that surrounds skin cells and helps form a protective barrier between the body and its environment. TGM1 gene mutations lead to severely reduced or absent enzyme production, which prevents the formation of the cornified cell envelope.  Mutations in other genes associated with lamellar ichthyosis are each responsible for only a small percentage of cases. In some people with lamellar ichthyosis, the cause of the disorder is unknown. Researchers have identified multiple chromosome regions that contain genes that may be associated with lamellar ichthyosis, although the specific genes have not been identified.
Question: What are the treatments for Acromegaly ?

Answer: No single treatment is effective for all patients. Treatment should be individualized, and often combined, depending on patient characteristics such as age and tumor size.
                
If the tumor has not yet invaded surrounding nonpituitary tissues, removal of the pituitary adenoma by an experienced neurosurgeon is usually the first choice. Even if a cure is not possible, surgery may be performed if the patient has symptoms of neurological problems such as loss of peripheral vision or cranial nerve problems. After surgery, hormone levels are measured to determine whether a cure has been achieved. This determination can take up to 8 weeks because IGF-I lasts a long time in the body's circulation. If cured, a patient must be monitored for a long time for increasing GH levels.
                
If surgery does not normalize hormone levels or a relapse occurs, an endocrinologist should recommend additional drug therapy. With each medication, long-term therapy is necessary because their withdrawal can lead to rising GH levels and tumor re-expansion.
                
Radiation therapy is generally reserved for patients whose tumors are not completely removed by surgery, who are not good candidates for surgery because of other health problems, or who do not respond adequately to surgery and medication.
Question: What are the symptoms of Chronic Diarrhea in Children ?

Answer: Symptoms that accompany chronic diarrhea in children depend on the cause of the diarrhea. Symptoms can include
                
- cramping  - abdominal pain  - nausea or vomiting  - fever  - chills  - bloody stools
                
Children with chronic diarrhea who have malabsorption can experience
                
- bloating and swelling, also called distention, of the abdomen  - changes in appetite  - weight loss or poor weight gain
                

                
Consult a Health Care Provider   A childs parent or caretaker should consult a health care provider if the child   - has diarrhea for more than 24 hours   - is younger than 6 months old   - has received treatment and the diarrhea persists    Children with any of the following symptoms should see a health care provider right away:   - signs of malabsorptionbloating and swelling of the abdomen, changes in appetite, and weight loss or poor weight gain   - severe abdominal or rectal pain   - a fever of 102 degrees or higher   - stools containing blood or pus    More information is provided in the NIDDK health topics:   - Diarrhea   - What I need to know about Diarrhea
Question: What are the treatments for Prescription and Illicit Drug Abuse ?

Answer: Different types of medications may be useful at different stages of treatment to help a person stop abusing a substance, stay in treatment, focus on learning new behavioral skills, and avoid relapse. Currently, medications are available to treat addiction to opiates, nicotine, and alcohol, but none are yet approved for treating addiction to stimulants, marijuana, or depressants. Medications for substance abuse treatment help the brain adjust to the absence of the abused substance. These medications act slowly to stave off drug cravings and prevent relapse. For example, buprenorphine, marketed as Subutex or Suboxone, is prescribed by approved physicians to treat people who are addicted to opiate drugs, such as painkillers or heroin. Buprenorphine is useful in the short-term detoxification process by helping ease withdrawal symptoms and in the long-term by staving off cravings and helping prevent relapse. For more on treating opioid addiction, seeTreating Addiction to Prescription Opioids." For information on treating addiction to depressants, see  "Treating Addiction to CNS Depressants."  For information on treating addiction to stimulants, see  Treating Addiction to Prescription Stimulants."
Question: Do you have information about Vital Signs

Answer: Summary : Your vital signs show how well your body is functioning. They are usually measured at doctor's offices, often as part of a health checkup, or during an emergency room visit. They include       - Blood pressure, which measures the force of your blood pushing against the walls of your arteries. Blood pressure that is too high or too low can cause problems. Your blood pressure has two numbers. The first number is the pressure when your heart beats and is pumping the blood. The second is from when your heart is at rest, between beats. A normal blood pressure reading for adults is lower than 120/80 and higher than 90/60.    - Heart rate, or pulse, which measures how fast your heart is beating. A problem with your heart rate may be an arrhythmia. Your normal heart rate depends on factors such as your age, how much you exercise, whether you are sitting or standing, which medicines you take, and your weight.    - Respiratory rate, which measures your breathing. Mild breathing changes can be from causes such as a stuffy nose or hard exercise. But slow or fast breathing can also be a sign of a serious breathing problem.    - Temperature, which measures how hot your body is. A body temperature that is higher than normal (over 98.6 degrees F) is called a fever.
Question: What is (are) Sickle Cell Anemia ?

Answer: Sickle cell anemia is a disease in which your body produces abnormally shaped red blood cells. The cells are shaped like a crescent or sickle. They don't last as long as normal, round red blood cells. This leads to anemia. The sickle cells also get stuck in blood vessels, blocking blood flow. This can cause pain and organ damage.    A genetic problem causes sickle cell anemia. People with the disease are born with two sickle cell genes, one from each parent. If you only have one sickle cell gene, it's called sickle cell trait. About 1 in 12 African Americans has sickle cell trait.    The most common symptoms are pain and problems from anemia. Anemia can make you feel tired or weak. In addition, you might have shortness of breath, dizziness, headaches, or coldness in the hands and feet.     A blood test can show if you have the trait or anemia. Most states test newborn babies as part of their newborn screening programs.    Sickle cell anemia has no widely available cure. Treatments can help relieve symptoms and lessen complications. Researchers are investigating new treatments such as blood and marrow stem cell transplants, gene therapy, and new medicines.    NIH: National Heart, Lung, and Blood Institute
Question: Is Muir-Torre syndrome inherited ?

Answer: How is Muir-Torre syndrome inherited? Muir-Torre-syndrome (MTS) is a variant of Lynch syndrome and is inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough for a person to develop the condition. When a person with an autosomal dominant condition has children, each child has 50% (1 in 2) chance to inherit the mutated copy of the responsible gene. It is important to note that people who inherit a mutated gene that causes MTS inherit an increased risk of cancer, not the disease itself. Not all people who inherit a mutation in an associated gene will develop cancer. This phenomenon is called reduced penetrance. The majority of people diagnosed with a form of Lynch syndrome have inherited the mutated gene from a parent. However, because not all people with a mutation develop cancer, and the variable age at which cancer may develop, not all people with a mutation have a parent who had cancer. Thus, the family history may appear negative. A positive family history of MTS is identified in roughly 50% of affected people. The percentage of people with Lynch syndrome who have a new mutation in the gene that occurred for the first time (and was not inherited from a parent) is unknown but is estimated to be extremely low.
Question: What are the symptoms of Bantu siderosis ?

Answer: What are the signs and symptoms of Bantu siderosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Bantu siderosis. 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) Elevated transferrin saturation - 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 Ribbing disease ?

Answer: What are the signs and symptoms of Ribbing disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Ribbing disease. 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) Autosomal recessive inheritance - Diaphyseal sclerosis - 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) Glycogen storage disease type 7 ?

Answer: Glycogen storage disease type 7 (GSD7) is an inherited condition in which the body is unable to break down glycogen (a complex sugar) in the muscle cells. Because glycogen is an important source of energy, this can interfere with the normal functioning of muscle cells. The severity of the condition and the associated signs and symptoms vary, but may include muscle weakness and stiffness; painful muscle cramps; nausea and vomiting; and/or myoglobinuria (the presence of myoglobin in the urine) following moderate to strenuous exercise. Symptoms typically resolve with rest. GSD7 is most commonly diagnosed during childhood; however, some affected people may rarely develop symptoms during infancy or later in adulthood. Those who develop the condition during infancy may experience additional symptoms such as hypotonia (poor muscle tone), cardiomyopathy and breathing difficulties that often lead to a shortened lifespan (less than 1 year). This condition is caused by changes (mutations) in the PFKM gene and is inherited in an autosomal recessive manner. There is no specific treatment for GSD7; however, affected people are generally advised to avoid vigorous exercise and high-carbohydrate meals.
Question: What are the symptoms of Preauricular sinus ?

Answer: What are the signs and symptoms of Preauricular sinus? The Human Phenotype Ontology provides the following list of signs and symptoms for Preauricular sinus. 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) Autosomal dominant inheritance - Preauricular pit - 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 research (or clinical trials) is being done for Sandhoff Disease ?

Answer: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a part of the National Institutes of Health, the largest supporter of biomedical research in the world. The NINDS, along with other NIH Institutes, supports the Lysosomal Disease Network, a network of centers that addresses some of the major challenges in the diagnosis, management, and therapy of rare diseases, including the lipid storage diseases. Research funded by the NINDS focuses on better understanding of how neurological deficits rise in lipid storage diseases and on the development of new treatments targeting disease mechanisms, including gene therapies, cell-based therapies, and pharmacological approaches. NINDS funded research on the gangliosidoses includes variations of magnetic resonance imaging to develop a biomarker (a sign that may indicate risk of a disease and improve diagnosis) to effectively evaluate brain biochemistry and disease progression, and expanding the use of virus-delivered gene therapy seen in an animal model of Tay-Sachs and Sandhoff diseases for use in humans.
Question: What is (are) SOX2 anophthalmia syndrome ?

Answer: SOX2 anophthalmia syndrome is a rare disorder characterized by abnormal development of the eyes and other parts of the body.  People with SOX2 anophthalmia syndrome are usually born without eyeballs (anophthalmia), although some individuals have small eyes (microphthalmia). The term anophthalmia is often used interchangeably with severe microphthalmia because individuals with no visible eyeballs typically have some remaining eye tissue. These eye problems can cause significant vision loss. While both eyes are usually affected in SOX2 anophthalmia syndrome, one eye may be more affected than the other.  Individuals with SOX2 anophthalmia syndrome may also have seizures, brain abnormalities, slow growth, delayed development of motor skills (such as walking), and mild to severe learning disabilities. Some people with this condition are born with a blocked esophagus (esophageal atresia), which is often accompanied by an abnormal connection between the esophagus and the trachea (tracheoesophageal fistula). Genital abnormalities have been described in affected individuals, especially males. Male genital abnormalities include undescended testes (cryptorchidism) and an unusually small penis (micropenis).
Question: What are the genetic changes related to otopalatodigital syndrome type 2 ?

Answer: Mutations in the FLNA gene cause otopalatodigital syndrome type 2.  The FLNA gene provides instructions for producing the protein filamin A, which helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Filamin A binds to another protein called actin, and helps the actin to form the branching network of filaments that make up the cytoskeleton. Filamin A also links actin to many other proteins to perform various functions within the cell.  A small number of mutations in the FLNA gene have been identified in people with otopalatodigital syndrome type 2. The mutations all result in changes to the filamin A protein in the region that binds to actin. The mutations responsible for otopalatodigital syndrome type 2 are described as "gain-of-function" because they appear to enhance the activity of the filamin A protein or give the protein a new, atypical function. Researchers believe that the mutations may change the way the filamin A protein helps regulate processes involved in skeletal development, but it is not known how changes in the protein relate to the specific signs and symptoms of otopalatodigital syndrome type 2.
Question: What is (are) familial dilated cardiomyopathy ?

Answer: Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes stretched out in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. Eventually, all four chambers of the heart become dilated as the cardiac muscle tries to increase the amount of blood being pumped through the heart. However, as the cardiac muscle becomes increasingly thin and weakened, it is less able to pump blood. Over time, this condition results in heart failure.  It usually takes many years for symptoms of familial dilated cardiomyopathy to appear. They typically begin in mid-adulthood, but can occur at any time from infancy to late adulthood. Signs and symptoms of familial dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath (dyspnea), extreme tiredness (fatigue), fainting episodes (syncope), and swelling of the legs and feet. In some cases, the first sign of the disorder is sudden cardiac death. The severity of the condition varies among affected individuals, even in members of the same family.
Question: What is (are) piebaldism ?

Answer: Piebaldism is a condition characterized by the absence of cells called melanocytes in certain areas of the skin and hair. Melanocytes produce the pigment melanin, which contributes to hair, eye, and skin color. The absence of melanocytes leads to patches of skin and hair that are lighter than normal. Approximately 90 percent of affected individuals have a white section of hair near their front hairline (a white forelock). The eyelashes, the eyebrows, and the skin under the forelock may also be unpigmented.  People with piebaldism usually have other unpigmented patches of skin, typically appearing symmetrically on both sides of the body. There may be spots or patches of pigmented skin within or around the borders of the unpigmented areas.  In most cases, the unpigmented areas are present at birth and do not increase in size or number. The unpigmented patches are at increased risk of sunburn and skin cancer related to excessive sun exposure. Some people with piebaldism are self-conscious about the appearance of the unpigmented patches, which may be more noticeable in darker-skinned people. Aside from these potential issues, this condition has no effect on the health of the affected individual.
Question: What is (are) familial idiopathic basal ganglia calcification ?

Answer: Familial idiopathic basal ganglia calcification (FIBGC, formerly known as Fahr disease) is a condition characterized by abnormal deposits of calcium (calcification) in the brain. These calcium deposits typically occur in the basal ganglia, which are structures deep within the brain that help start and control movement; however, other brain regions can also be affected.  The signs and symptoms of FIBGC include movement disorders and psychiatric or behavioral difficulties. These problems begin in adulthood, usually in a person's thirties. The movement difficulties experienced by people with FIBGC include involuntary tensing of various muscles (dystonia), problems coordinating movements (ataxia), and uncontrollable movements of the limbs (choreoathetosis). Affected individuals often have seizures as well. The psychiatric and behavioral problems include difficulty concentrating, memory loss, changes in personality, a distorted view of reality (psychosis), and decline in intellectual function (dementia). An estimated 20 to 30 percent of people with FIBGC have one of these psychiatric disorders.  The severity of this condition varies among affected individuals; some people have no symptoms related to the brain calcification, whereas other people have significant movement and psychiatric problems.