umarjan11/Medical-qna huggingface dataset:
Question: What is (are) aromatase deficiency ?

Answer: Aromatase deficiency is a condition characterized by reduced levels of the female sex hormone estrogen and increased levels of the male sex hormone testosterone.  Females with aromatase deficiency have a typical female chromosome pattern (46,XX) but are born with external genitalia that do not appear clearly female or male (ambiguous genitalia). These individuals typically have normal internal reproductive organs, but develop ovarian cysts early in childhood, which impair the release of egg cells from the ovaries (ovulation). In adolescence, most affected females do not develop secondary sexual characteristics, such as breast growth and menstrual periods. They tend to develop acne and excessive body hair growth (hirsutism).  Men with this condition have a typical male chromosome pattern (46,XY) and are born with male external genitalia. Some men with this condition have decreased sex drive, abnormal sperm production, or testes that are small or undescended (cryptorchidism).  There are other features associated with aromatase deficiency that can affect both males and females. Affected individuals are abnormally tall because of excessive growth of long bones in the arms and legs. The abnormal bone growth results in slowed mineralization of bones (delayed bone age) and thinning of the bones (osteoporosis), which can lead to bone fractures with little trauma. Males and females with aromatase deficiency can have abnormally high blood sugar (hyperglycemia) because the body does not respond correctly to the hormone insulin. In addition, they can have excessive weight gain and a fatty liver.  Women who are pregnant with fetuses that have aromatase deficiency often experience mild symptoms of the disorder even though they themselves do not have the disorder. These women may develop hirsutism, acne, an enlarged clitoris (clitoromegaly), and a deep voice. These features can appear as early as 12 weeks of pregnancy and go away soon after delivery.
Question: What is (are) neuroblastoma ?

Answer: Neuroblastoma is a type of cancer that most often affects children. Neuroblastoma occurs when immature nerve cells called neuroblasts become abnormal and multiply uncontrollably to form a tumor. Most commonly, the tumor originates in the nerve tissue of the adrenal gland located above each kidney. Other common sites for tumors to form include the nerve tissue in the abdomen, chest, neck, or pelvis. Neuroblastoma can spread (metastasize) to other parts of the body such as the bones, liver, or skin.  Individuals with neuroblastoma may develop general signs and symptoms such as irritability, fever, tiredness (fatigue), pain, loss of appetite, weight loss, or diarrhea. More specific signs and symptoms depend on the location of the tumor and where it has spread. A tumor in the abdomen can cause abdominal swelling. A tumor in the chest may lead to difficulty breathing. A tumor in the neck can cause nerve damage known as Horner syndrome, which leads to drooping eyelids, small pupils, decreased sweating, and red skin. Tumor metastasis to the bone can cause bone pain, bruises, pale skin, or dark circles around the eyes. Tumors in the backbone can press on the spinal cord and cause weakness, numbness, or paralysis in the arms or legs. A rash of bluish or purplish bumps that look like blueberries indicates that the neuroblastoma has spread to the skin.  In addition, neuroblastoma tumors can release hormones that may cause other signs and symptoms such as high blood pressure, rapid heartbeat, flushing of the skin, and sweating. In rare instances, individuals with neuroblastoma may develop opsoclonus myoclonus syndrome, which causes rapid eye movements and jerky muscle motions. This condition occurs when the immune system malfunctions and attacks nerve tissue.  Neuroblastoma occurs most often in children before age 5 and rarely occurs in adults.
Question: What is (are) type A insulin resistance syndrome ?

Answer: Type A insulin resistance syndrome is a rare disorder characterized by severe insulin resistance, a condition in which the body's tissues and organs do not respond properly to the hormone insulin. Insulin normally helps regulate blood sugar levels by controlling how much sugar (in the form of glucose) is passed from the bloodstream into cells to be used as energy. In people with type A insulin resistance syndrome, insulin resistance impairs blood sugar regulation and ultimately leads to a condition called diabetes mellitus, in which blood sugar levels can become dangerously high.  Severe insulin resistance also underlies the other signs and symptoms of type A insulin resistance syndrome. In affected females, the major features of the condition become apparent in adolescence. Many affected females do not begin menstruation by age 16 (primary amenorrhea) or their periods may be light and irregular (oligomenorrhea). They develop cysts on the ovaries and excessive body hair growth (hirsutism). Most affected females also develop a skin condition called acanthosis nigricans, in which the skin in body folds and creases becomes thick, dark, and velvety. Unlike most people with insulin resistance, females with type A insulin resistance syndrome are usually not overweight.  The features of type A insulin resistance syndrome are more subtle in affected males. Some males have low blood sugar (hypoglycemia) as the only sign; others may also have acanthosis nigricans. In many cases, males with this condition come to medical attention only when they develop diabetes mellitus in adulthood.  Type A insulin resistance syndrome is one of a group of related conditions described as inherited severe insulin resistance syndromes. These disorders, which also include Donohue syndrome and Rabson-Mendenhall syndrome, are considered part of a spectrum. Type A insulin resistance syndrome represents the mildest end of the spectrum: its features often do not become apparent until puberty or later, and it is generally not life-threatening.
Question: What are the symptoms of Renal oncocytoma ?

Answer: What are the signs and symptoms of Renal oncocytoma? Most people with a renal oncocytoma do not have any signs or symptoms. In fact, these tumors are often discovered incidentally (by chance) while a person is undergoing diagnostic imaging for other conditions. In about a third of cases, people with renal oncocytoma will present with abdominal or flank pain; blood in the urine; and/or an abdominal mass. Affected people usually have a single, unilateral (only affecting one kidney) renal oncocytoma. However, multiple, bilateral (affecting both kidneys) tumors have rarely been reported in people with tuberous sclerosis complex and Birt-Hogg-Dube syndrome. The Human Phenotype Ontology provides the following list of signs and symptoms for Renal oncocytoma. 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 metabolism/homeostasis - Mitochondrial inheritance - Neoplasm - 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 treatments for Hemangioendothelioma ?

Answer: How might hemangioendothelioma be treated? Treatment for hemangioendothelioma may depend on the type of hemangioendothelioma present in the affected individual and the risk of recurrence or metastases. In most reported cases, surgical excision (removal) of the mass has been the only treatment. For spindle cell hemangioma, simple excision is reportedly curative; however, new growths develop in adjacent skin and soft tissues in 60% of affected individuals. For individuals with papillary intralymphatic angioendothelioma (PILA), excision of the involved lymph nodes, as well as the mass, has been recommended. Surgical excision is reportedly also the usual treatment for individuals with retiform hemangioendothelioma (although local recurrence with this type is common), epithelioid hemangioendothelioma, and composite hemangioendothelioma (with the exception of 1 case treated with interferon). Most individuals with pseudomyogenic hemangioendothelioma have been treated with simple excision, but a few individuals have also received post-surgical radiotherapy (RT). With regard to kaposiform hemangioendothelioma, some large lesions cannot be completely removed and may cause fatal complications due to the associated KasabachMerritt syndrome. In these cases, several medical therapies have been used, including systemic corticosteroids; alfa interferon; RT; embolization; and several other therapies, both alone and in various combinations. A study by Scott et al published in 2012 in the American Journal of Clinical Oncology evaluated the effectiveness of RT as either an alternative or adjunct to surgery. The authors stated that the effectiveness of definitive RT in the treatment of hemangioendothelioma in their study implies that radiation may be an acceptable alternative when surgical resection will compromise function or cosmetic result. They concluded that with no local recurrences and minimal risk of toxicity, their long-term data suggest that RT offers a highly effective management option for this disease.
Question: What are the symptoms of Smith McCort dysplasia ?

Answer: What are the signs and symptoms of Smith McCort dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Smith McCort dysplasia. 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) Atlantoaxial instability - Autosomal recessive inheritance - Barrel-shaped chest - Beaking of vertebral bodies - Deformed sella turcica - Delayed femoral head ossification - Disproportionate short-trunk short stature - Dolichocephaly - Genu valgum - Genu varum - Hypoplasia of the odontoid process - Hypoplastic acetabulae - Hypoplastic facial bones - Hypoplastic scapulae - Irregular epiphyses - Kyphosis - Metaphyseal irregularity - Microcephaly - Multicentric femoral head ossification - Platyspondyly - Prominent sternum - Scoliosis - Short metacarpal - Short phalanx of finger - Waddling gait - 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 Chondrodysplasia acromesomelic with genital anomalies ?

Answer: What are the signs and symptoms of Chondrodysplasia acromesomelic with genital anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrodysplasia acromesomelic with genital anomalies. 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) Aplasia of the proximal phalanges of the hand - Aplasia/Hypoplasia involving the metacarpal bones - Autosomal recessive inheritance - Broad foot - Carpal synostosis - Disproportionate short-limb short stature - Fibular aplasia - Hypergonadotropic hypogonadism - Hypoplasia of the ulna - Hypoplasia of the uterus - Primary amenorrhea - Radial deviation of finger - Short femoral neck - Short finger - Short phalanx of finger - Short toe - Talipes equinovarus - Tarsal synostosis - Widened proximal tibial metaphyses - 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 Ectodermal dysplasia, hidrotic, Christianson-Fourie type ?

Answer: What are the signs and symptoms of Ectodermal dysplasia, hidrotic, Christianson-Fourie type? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectodermal dysplasia, hidrotic, Christianson-Fourie type. 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 hair quantity 90% Abnormality of the eye 90% Abnormality of the fingernails 90% Aplasia/Hypoplasia of the eyebrow 90% Arrhythmia 7.5% Absent eyebrow - Autosomal dominant inheritance - Bradycardia - Fair hair - Hidrotic ectodermal dysplasia - Nail dystrophy - Paroxysmal supraventricular tachycardia - Short eyelashes - Sparse axillary hair - Sparse pubic hair - Sparse scalp hair - Thick nail - 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 Uncombable hair syndrome ?

Answer: What are the signs and symptoms of Uncombable hair syndrome? Uncombable hair syndrome (UHS) may first become apparent any time between the ages of 3 months and 12 years. It only affects the scalp hair. The quantity of hair remains normal, but the hair often grows slowly. Over time the hair becomes progressively silvery-blond or straw-colored; dry and disordered (standing out and growing in different directions); and unmanageable to comb flat.  In some cases, constant efforts to groom the hair lead to breakage, but increased fragility is not a constant feature of the condition. In later childhood, there is usually a considerable amount of spontaneous improvement. The Human Phenotype Ontology provides the following list of signs and symptoms for Uncombable hair 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) Coarse hair 90% Hypopigmentation of hair 90% Woolly hair 90% Abnormal hair quantity 7.5% Autosomal dominant inheritance - Pili canaliculi - Uncombable hair - 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) Axenfeld-Rieger syndrome ?

Answer: Axenfeld-Rieger syndrome is primarily an eye disorder, although it can also affect other parts of the body. This condition is characterized by abnormalities of the front part of the eye, an area known as the anterior segment. For example, the colored part of the eye (the iris), may be thin or poorly developed. The iris normally has a single central hole, called the pupil, through which light enters the eye. People with Axenfeld-Rieger syndrome often have a pupil that is off-center (corectopia) or extra holes in the iris that can look like multiple pupils (polycoria). This condition can also cause abnormalities of the cornea, which is the clear front covering of the eye.  About half of affected individuals develop glaucoma, a serious condition that increases pressure inside the eye. When glaucoma occurs with Axenfeld-Rieger syndrome, it most often develops in late childhood or adolescence, although it can occur as early as infancy. Glaucoma can cause vision loss or blindness.  The signs and symptoms of Axenfeld-Rieger syndrome can also affect other parts of the body. Many affected individuals have distinctive facial features such as widely spaced eyes (hypertelorism); a flattened mid-face with a broad, flat nasal bridge; and a prominent forehead. The condition is also associated with dental abnormalities including unusually small teeth (microdontia) or fewer than normal teeth (oligodontia). Some people with Axenfeld-Rieger syndrome have extra folds of skin around their belly button (redundant periumbilical skin). Other, less common features can include heart defects, the opening of the urethra on the underside of the penis (hypospadias), narrowing of the anus (anal stenosis), and abnormalities of the pituitary gland that can result in slow growth.  Researchers have described at least three types of Axenfeld-Rieger syndrome. The types, which are numbered 1 through 3, are distinguished by their genetic cause.
Question: What are the genetic changes related to atypical hemolytic-uremic syndrome ?

Answer: Atypical hemolytic-uremic syndrome often results from a combination of environmental and genetic factors. Mutations in at least seven genes appear to increase the risk of developing the disorder. Mutations in a gene called CFH are most common; they have been found in about 30 percent of all cases of atypical hemolytic-uremic syndrome. Mutations in the other genes have each been identified in a smaller percentage of cases.  The genes associated with atypical hemolytic-uremic syndrome provide instructions for making proteins involved in a part of the body's immune response known as the complement system. This system is a group of proteins that work together to destroy foreign invaders (such as bacteria and viruses), trigger inflammation, and remove debris from cells and tissues. The complement system must be carefully regulated so it targets only unwanted materials and does not attack the body's healthy cells. The regulatory proteins associated with atypical hemolytic-uremic syndrome protect healthy cells by preventing activation of the complement system when it is not needed.  Mutations in the genes associated with atypical hemolytic-uremic syndrome lead to uncontrolled activation of the complement system. The overactive system attacks cells that line blood vessels in the kidneys, causing inflammation and the formation of abnormal clots. These abnormalities lead to kidney damage and, in many cases, kidney failure and ESRD.  Although gene mutations increase the risk of atypical hemolytic-uremic syndrome, studies suggest that they are often not sufficient to cause the disease. In people with certain genetic changes, the signs and symptoms of the disorder may be triggered by factors including certain medications (such as anticancer drugs), chronic diseases, viral or bacterial infections, cancers, organ transplantation, or pregnancy.  Some people with atypical hemolytic-uremic syndrome do not have any known genetic changes or environmental triggers for the disease. In these cases, the disorder is described as idiopathic.
Question: What are the treatments for Diabetes ?

Answer: See your health care team at least twice a year to find and treat any problems early. Ask what steps you can take to reach your goals. If you have diabetes, take these steps.  At each visit,  be sure you have a - blood pressure check  -  foot check  -  weight check  -  review of your self-care plan. blood pressure check foot check weight check review of your self-care plan.  Two times each year, get - an A1C test. It may be checked more often if it is over 7. an A1C test. It may be checked more often if it is over 7. Once each year,  be sure you have a - cholesterol test  - triglyceride (try-GLISS-er-ide) test - a type of blood fat  - complete foot exam  - dental exam to check teeth and gums. Tell your dentist you have diabetes.  - dilated eye exam to check for eye problems  - flu shot  - urine and a blood test to check for kidney problems. cholesterol test triglyceride (try-GLISS-er-ide) test - a type of blood fat complete foot exam dental exam to check teeth and gums. Tell your dentist you have diabetes. dilated eye exam to check for eye problems flu shot urine and a blood test to check for kidney problems.  At least once, get a - pneumonia (nu-MOH-nya) shot.  pneumonia (nu-MOH-nya) shot.  If you have Medicare,  ask your health care team if Medicare will cover some of the costs for -  learning about healthy eating and diabetes self-care  - special shoes, if you need them  - medical supplies  - diabetes medicines. learning about healthy eating and diabetes self-care special shoes, if you need them medical supplies diabetes medicines. (Watch the video for important things to remember when visiting your health care team. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.)