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

Answer: Meier-Gorlin syndrome is a condition primarily characterized by short stature. It is considered a form of primordial dwarfism because the growth problems begin before birth (intrauterine growth retardation). After birth, affected individuals continue to grow at a slow rate. Other characteristic features of this condition are underdeveloped or missing kneecaps (patellae), small ears, and, often, an abnormally small head (microcephaly). Despite a small head size, most people with Meier-Gorlin syndrome have normal intellect.  Some people with Meier-Gorlin syndrome have other skeletal abnormalities, such as unusually narrow long bones in the arms and legs, a deformity of the knee joint that allows the knee to bend backwards (genu recurvatum), and slowed mineralization of bones (delayed bone age).  Most people with Meier-Gorlin syndrome have distinctive facial features. In addition to being abnormally small, the ears may be low-set or rotated backward. Additional features can include a small mouth (microstomia), an underdeveloped lower jaw (micrognathia), full lips, and a narrow nose with a high nasal bridge.  Abnormalities in sexual development may also occur in Meier-Gorlin syndrome. In some males with this condition, the testes are small or undescended (cryptorchidism). Affected females may have unusually small external genital folds (hypoplasia of the labia majora) and small breasts. Both males and females with this condition can have sparse or absent underarm (axillary) hair.  Additional features of Meier-Gorlin syndrome can include difficulty feeding and a lung condition known as pulmonary emphysema or other breathing problems.
Question: How to diagnose Primary Sclerosing Cholangitis ?

Answer: Blood tests to check levels of liver enzymes are the first step in diagnosing PSC. Doctors confirm the diagnosis using cholangiography, which provides pictures of the bile ducts.
                
Cholangiography can be performed in the following ways:
                
-  Endoscopic retrograde cholangiopancreatography (ERCP). ERCP uses an endoscopea long, flexible, lighted tubethat goes down the mouth, beyond the stomach, and into the duodenum to reach an area in the digestive tract where dye can be injected into the bile ducts. X rays are taken when the dye is injected. ERCP also can be used to take a tissue sample or to treat blocked ducts. More information about ERCP is provided in the NIDDK health topic, ERCP (Endoscopic Retrograde Cholangiopancreatography).  -  Percutaneous transhepatic cholangiography. This procedure involves inserting a needle through the skin and placing a thin tube into a duct in the liver. Dye is injected through the tube and x rays are taken.  -  Magnetic resonance cholangiopancreatography (MRCP). MRCP uses magnetic resonance imaging (MRI) to obtain pictures of the bile ducts. MRI machines use radio waves and magnets to scan internal organs and tissues. MRCP does not involve using x rays or inserting instruments into the body. This safe and painless test is increasingly used for diagnosis.
                
Other testing may include ultrasound exams and a liver biopsy. Ultrasound uses sound waves to create images of organs inside the body. A biopsy involves removal of a small piece of tissue for examination with a microscope.
Question: What to do for Graves' Disease ?

Answer: Experts recommend that people eat a balanced diet to obtain most nutrients. More information about diet and nutrition is provided by the National Agricultural Library available at www.nutrition.gov.
                
Dietary Supplements
                
Iodine is an essential mineral for the thyroid. However, people with autoimmune thyroid disease may be sensitive to harmful side effects from iodine. Taking iodine drops or eating foods containing large amounts of iodinesuch as seaweed, dulse, or kelpmay cause or worsen hyperthyroidism. More information about iodine is provided by the National Library of Medicine in the fact sheet, Iodine in diet, available at www.nlm.nih.gov/medlineplus.
                
Women need more iodine when they are pregnantabout 250 micrograms a daybecause the baby gets iodine from the mothers diet. In the United States, about 7 percent of pregnant women may not get enough iodine in their diet or through prenatal vitamins.3 Choosing iodized saltsalt supplemented with iodineover plain salt and prenatal vitamins containing iodine will ensure this need is met.
                
To help ensure coordinated and safe care, people should discuss their use of dietary supplements, such as iodine, with their health care provider. Tips for talking with health care providers are available through the National Center for Complementary and Integrative Health.
                
3 Zimmerman MB. Iodine deficiency in pregnancy and the effects of maternal iodine supplementation on the offspring: a review. American Journal of Clinical Nutrition. 2009;89(2):668S672S.
Question: What are the symptoms of 46,XX testicular disorder of sex development ?

Answer: What are the signs and symptoms of 46,XX testicular disorder of sex development? The Human Phenotype Ontology provides the following list of signs and symptoms for 46,XX testicular disorder of sex development. 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) Abnormality of the testis 90% Polycystic ovaries 90% Ovotestis 5% Autosomal dominant inheritance - Azoospermia - Bifid scrotum - Decreased serum testosterone level - Hypoplasia of the uterus - Hypoplasia of the vagina - Micropenis - Perineal hypospadias - Scrotal hypoplasia - True hermaphroditism - 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 Radial hypoplasia, triphalangeal thumbs and hypospadias ?

Answer: What are the signs and symptoms of Radial hypoplasia, triphalangeal thumbs and hypospadias? The Human Phenotype Ontology provides the following list of signs and symptoms for Radial hypoplasia, triphalangeal thumbs and hypospadias. 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) Abnormal dermatoglyphics 90% Aplasia/Hypoplasia of the radius 90% Mandibular prognathia 90% Micromelia 90% Triphalangeal thumb 90% Autosomal dominant inheritance - Diastema - Hypoplasia of the radius - Hypospadias - Nonopposable triphalangeal thumb - 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 Charcot-Marie-Tooth disease type 2K ?

Answer: What are the signs and symptoms of Charcot-Marie-Tooth disease type 2K? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 2K. 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) Areflexia - Autosomal dominant inheritance - Autosomal recessive inheritance - Axonal regeneration - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Infantile onset - Kyphoscoliosis - Proximal muscle weakness - Split hand - Talipes equinovarus - 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 causes Polycythemia Vera ?

Answer: Primary Polycythemia
                
Polycythemia vera (PV) also is known as primary polycythemia. A mutation, or change, in the body's JAK2 gene is the main cause of PV. The JAK2 gene makes a protein that helps the body produce blood cells.
                
What causes the change in the JAK2 gene isn't known. PV generally isn't inheritedthat is, passed from parents to children through genes. However, in some families, the JAK2 gene may have a tendency to mutate. Other, unknown genetic factors also may play a role in causing PV.
                
Secondary Polycythemia
                
Another type of polycythemia, called secondary polycythemia, isn't related to the JAK2 gene. Long-term exposure to low oxygen levels causes secondary polycythemia.
                
A lack of oxygen over a long period can cause your body to make more of the hormone erythropoietin (EPO). High levels of EPO can prompt your body to make more red blood cells than normal. This leads to thicker blood, as seen in PV.
                
People who have severe heart or lung disease may develop secondary polycythemia. People who smoke, spend long hours at high altitudes, or are exposed to high levels of carbon monoxide where they work or live also are at risk.
                
For example, working in an underground parking garage or living in a home with a poorly vented fireplace or furnace can raise your risk for secondary polycythemia.
                
Rarely, tumors can make and release EPO, or certain blood problems can cause the body to make more EPO.
                
Sometimes doctors can cure secondary polycythemiait depends on whether the underlying cause can be stopped, controlled, or cured.
Question: What is (are) sporadic hemiplegic migraine ?

Answer: Sporadic hemiplegic migraine is a rare form of migraine headache. Migraines typically cause intense, throbbing pain in one area of the head. Some people with migraines also experience nausea, vomiting, and sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and can be triggered by certain foods, emotional stress, and minor head trauma. Each headache may last from a few hours to a few days.  In sporadic hemiplegic migraine and some other types of migraine, a pattern of neurological symptoms called an aura occurs before onset of the headache. An aura commonly includes temporary visual changes such as blind spots (scotomas), flashing lights, zig-zagging lines, and double vision. In people with sporadic hemiplegic migraine, auras are also characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness. An aura typically develops gradually over a few minutes and lasts about an hour.  Some people with sporadic hemiplegic migraine experience unusually severe migraine episodes. These episodes can include fever, prolonged weakness, seizures, and coma. Although most people with sporadic hemiplegic migraine recover completely between episodes, neurological symptoms such as memory loss and problems with attention can last for weeks or months. Some affected individuals develop mild but permanent difficulty coordinating movements (ataxia), which may worsen with time, and rapid, involuntary eye movements called nystagmus. Mild to severe intellectual disability has been reported in some people with sporadic hemiplegic migraine.
Question: What is (are) succinate-CoA ligase deficiency ?

Answer: Succinate-CoA ligase deficiency is an inherited disorder that affects the early development of the brain and other body systems. One of the earliest signs of the disorder is very weak muscle tone (severe hypotonia), which appears in the first few months of life. Severe hypotonia delays the development of motor skills such as holding up the head and rolling over. Many affected children also have muscle weakness and reduced muscle mass, which prevents them from standing and walking independently.  Additional features of succinate-CoA ligase deficiency can include progressive abnormal curvature of the spine (scoliosis or kyphosis), uncontrolled movements (dystonia), severe hearing loss, and seizures beginning in childhood. In most affected children, a substance called methylmalonic acid builds up abnormally in the body and is excreted in urine (methylmalonic aciduria). Most children with succinate-CoA ligase deficiency also experience a failure to thrive, which means that they gain weight and grow more slowly than expected.  Succinate-CoA ligase deficiency causes breathing difficulties that often lead to recurrent infections of the respiratory tract. These infections can be life-threatening, and most people with succinate-CoA ligase deficiency live only into childhood or adolescence.  A few individuals with succinate-CoA ligase deficiency have had an even more severe form of the disorder known as fatal infantile lactic acidosis. Affected infants develop a toxic buildup of lactic acid in the body (lactic acidosis) in the first day of life, which leads to muscle weakness and breathing difficulties. Children with fatal infantile lactic acidosis usually live only a few days after birth.
Question: What is (are) genitopatellar syndrome ?

Answer: Genitopatellar syndrome is a rare condition characterized by genital abnormalities, missing or underdeveloped kneecaps (patellae), intellectual disability, and abnormalities affecting other parts of the body.  The genital abnormalities in affected males typically include undescended testes (cryptorchidism) and underdevelopment of the scrotum. Affected females can have an enlarged clitoris (clitoromegaly) and small labia.  Missing or underdeveloped patellae is the most common skeletal abnormality associated with genitopatellar syndrome. Affected individuals may have additional skeletal problems, including joint deformities (contractures) involving the hips and knees or an inward- and upward-turning foot called a clubfoot. Bone abnormalities of the spine, ribs, collarbone (clavicle), and pelvis have also been reported.  Genitopatellar syndrome is also associated with delayed development and intellectual disability, which are often severe. Affected individuals may have an usually small head (microcephaly) and structural brain abnormalities, including underdeveloped or absent tissue connecting the left and right halves of the brain (agenesis of the corpus callosum).  People with genitopatellar syndrome may have distinctive facial features such as prominent cheeks and eyes, a nose with a rounded tip or a broad bridge, an unusually small chin (micrognathia) or a chin that protrudes (prognathism), and a narrowing of the head at the temples. Many affected infants have weak muscle tone (hypotonia) that leads to breathing and feeding difficulties. The condition can also be associated with abnormalities of the heart, kidneys, and teeth.
Question: What are the genetic changes related to dyserythropoietic anemia and thrombocytopenia ?

Answer: Mutations in the GATA1 gene cause dyserythropoietic anemia and thrombocytopenia. The GATA1 gene provides instructions for making a protein that attaches (binds) to specific regions of DNA and helps control the activity of many other genes. On the basis of this action, the GATA1 protein is known as a transcription factor. The GATA1 protein is involved in the specialization (differentiation) of immature blood cells. To function properly, these immature cells must differentiate into specific types of mature blood cells. Through its activity as a transcription factor and its interactions with other proteins, the GATA1 protein regulates the growth and division (proliferation) of immature red blood cells and platelet-precursor cells (megakaryocytes) and helps with their differentiation.  GATA1 gene mutations disrupt the protein's ability to bind with DNA or interact with other proteins. These impairments in the GATA1 protein's normal function result in an increased proliferation of megakaryocytes and a decrease in mature platelets, leading to abnormal bleeding. An abnormal GATA1 protein causes immature red blood cells to undergo a form of programmed cell death called apoptosis. A lack of immature red blood cells results in decreased amounts of specialized, mature red blood cells, leading to anemia. The severity of dyserythropoietic anemia and thrombocytopenia can usually be predicted by the type of GATA1 gene mutation.  When the two blood disorders dyserythropoietic anemia and thrombocytopenia occur separately, each of the conditions can result from many different factors. The occurrence of these disorders together is characteristic of mutations in the GATA1 gene.
Question: What is (are) mucolipidosis II alpha/beta ?

Answer: Mucolipidosis II alpha/beta (also known as I-cell disease) is a progressively debilitating disorder that affects many parts of the body. Most affected individuals do not survive past early childhood.  At birth, children with mucolipidosis II alpha/beta are small and have weak muscle tone (hypotonia) and a weak cry. Affected individuals grow slowly after birth and usually stop growing during the second year of life. Development is delayed, particularly the development of speech and motor skills such as sitting and standing.  Children with mucolipidosis II alpha/beta typically have several bone abnormalities, many of which are present at birth. Affected individuals may have an abnormally rounded upper back (kyphosis), feet that are abnormally rotated (clubfeet), dislocated hips, unusually shaped long bones, and short hands and fingers. People with this condition also have joint deformities (contractures) that significantly affect mobility. Most children with mucolipidosis II alpha/beta do not develop the ability to walk independently. Affected individuals have dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray.  Other features of mucolipidosis II alpha/beta include a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia), heart valve abnormalities, distinctive-looking facial features that are described as "coarse," and overgrowth of the gums (gingival hypertrophy). Vocal cords can stiffen, resulting in a hoarse voice. The airway is narrow, which can contribute to prolonged or recurrent respiratory infections. Affected individuals may also have recurrent ear infections, which can lead to hearing loss.
Question: What are the stages of Pituitary Tumors ?

Answer: Key Points
                    - Once a pituitary tumor has been diagnosed, tests are done to find out if it has spread within the central nervous system (brain and spinal cord) or to other parts of the body.     - Pituitary tumors are described in several ways.
                
                
                    Once a pituitary tumor has been diagnosed, tests are done to find out if it has spread within the central nervous system (brain and spinal cord) or to other parts of the body.
                    The extent or spread of cancer is usually described as stages. There is no standard staging system for pituitary tumors. Once a pituitary tumor is found, tests are done to find out if the tumor has spread into the brain or to other parts of the body. The following test may be used:          -   MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI).
                
                
                    Pituitary tumors are described in several ways.
                    Pituitary tumors are described by their size and grade, whether or not they make extra hormones, and whether the tumor has spread to other parts of the body.   The following sizes are used:         - Microadenoma: The tumor is smaller than 1 centimeter.    - Macroadenoma: The tumor is 1 centimeter or larger.        Most pituitary adenomas are microadenomas.    The grade of a pituitary tumor is based on how far it has grown into the surrounding area of the brain, including the sella (the bone at the base of the skull, where the pituitary gland sits).