[System] The assistant is a factual and informative medical chatbot.

[User] What is (are) familial male-limited precocious puberty ?

[Assistant] Familial male-limited precocious puberty is a condition that causes early sexual development in males; females are not affected. Boys with this disorder begin exhibiting the signs of puberty in early childhood, between the ages of 2 and 5. Signs of male puberty include a deepening voice, acne, increased body hair, underarm odor, growth of the penis and testes, and spontaneous erections. Changes in behavior, such as increased aggression and early interest in sex, may also occur. Without treatment, affected boys grow quickly at first, but they stop growing earlier than usual. As a result, they tend to be shorter in adulthood compared with other members of their family.


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[User] What are the genetic changes related to metachromatic leukodystrophy ?

[Assistant] Most individuals with metachromatic leukodystrophy have mutations in the ARSA gene, which provides instructions for making the enzyme arylsulfatase A. This enzyme is located in cellular structures called lysosomes, which are the cell's recycling centers. Within lysosomes, arylsulfatase A helps break down sulfatides. A few individuals with metachromatic leukodystrophy have mutations in the PSAP gene. This gene provides instructions for making a protein that is broken up (cleaved) into smaller proteins that assist enzymes in breaking down various fats. One of these smaller proteins is called saposin B; this protein works with arylsulfatase A to break down sulfatides.  Mutations in the ARSA or PSAP genes result in a decreased ability to break down sulfatides, resulting in the accumulation of these substances in cells. Excess sulfatides are toxic to the nervous system. The accumulation gradually destroys myelin-producing cells, leading to the impairment of nervous system function that occurs in metachromatic leukodystrophy.  In some cases, individuals with very low arylsulfatase A activity show no symptoms of metachromatic leukodystrophy. This condition is called pseudoarylsulfatase deficiency.


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[User] How to diagnose Amyloidosis and Kidney Disease ?

[Assistant]
A health care provider diagnoses dialysis-related amyloidosis with

- urinalysis  - blood tests  - imaging tests

A health care provider can use urinalysis and blood tests to detect the amount of amyloid proteins in urine and blood. Imaging tests, such as x-rays and CT scans, can provide pictures of bone cysts and amyloid deposits in bones, joints, tendons, and ligaments. An x-ray technician performs imaging tests in a health care providers office, an outpatient center, or a hospital. A radiologista doctor who specializes in medical imaginginterprets the images. A patient does not require anesthesia.


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[User] what research (or clinical trials) is being done for Pancreatic Cancer ?

[Assistant]
New types of treatment are being tested in clinical trials.
                    This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI website.     Biologic therapy     Biologic therapy is a treatment that uses the patients immune system to fight cancer. Substances made by the body or made in a laboratory are used to boost, direct, or restore the bodys natural defenses against cancer. This type of cancer treatment is also called biotherapy or immunotherapy.

                    Patients may want to think about taking part in a clinical trial.
                    For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment.   Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment.   Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.

                    Patients can enter clinical trials before, during, or after starting their cancer treatment.
                    Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment.   Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.


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[User] What are the symptoms of Congenital laryngeal palsy ?

[Assistant] What are the signs and symptoms associated with congenital laryngeal paralysis? The following online resources provide information on the signs and symptoms of congenital laryngeal paralysis: National Institute on Deafness and Other Communication Disorders- Vocal Fold Paralysis Medscape Reference - Congenital Malformations of the Larynx


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[User] What are the treatments for CADASIL ?

[Assistant] How might CADASIL be treated? There is currently no treatment for CADASIL that is proven to be effective. While antiplatelet treatment is often used, it is also not proven to be useful. Migraine should be treated both symptomatically and prophylactically (with preventative methods), depending on the frequency of symptoms. When hypertension, diabetes or hypercholesterolemia (high cholesterol) are also present, they should be treated. Supportive care, including practical help, emotional support, and counseling, is useful for affected people and their families. Smoking increases the risk of stroke, so affected people who smoke should quit.


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[User] What are the treatments for MYH7-related scapuloperoneal myopathy ?

[Assistant] How might scapuloperoneal myopathy be treated? There is no standard course of treatment for scapuloperoneal myopathy. Some patients may benefit from physical therapy or other therapeutic exercises.


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[User] What are the treatments for Tracheobronchopathia osteoplastica ?

[Assistant] How might tracheobronchopathia osteoplastica be treated? There is no specific treatment for tracheobronchopathia osteoplastica (TO). Recurrent infections and collapse of the lung are treated conventionally. Inhaled corticosteroids may have some impact on people in early stages of the condition, but whether they may be helpful for people with more advanced disease needs further study. Occasionally, tracheostomy may be needed. Surgical treatment options may be considered when all conservative therapies have been unsuccessful. The long-term outlook (prognosis) for affected people is generally good, but usually depends on the extension and location of the lesions. It has been reported that over 55% of affected people do not have any disease progression following the diagnosis.


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[User] Is 22q13.3 deletion syndrome inherited ?

[Assistant] Most cases of 22q13.3 deletion syndrome are not inherited. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family, though they can pass the chromosome deletion to their children.  When 22q13.3 deletion syndrome is inherited, its inheritance pattern is considered autosomal dominant because a deletion in one copy of chromosome 22 in each cell is sufficient to cause the condition. About 15 to 20 percent of people with 22q13.3 deletion syndrome inherit a chromosome abnormality from an unaffected parent. In these cases, the parent carries a chromosomal rearrangement called a balanced translocation, in which a segment from one chromosome has traded places with a segment from another chromosome, but no genetic material is gained or lost. Balanced translocations usually do not cause any health problems; however, they can become unbalanced as they are passed to the next generation. Children who inherit an unbalanced translocation can have a chromosomal rearrangement with extra or missing genetic material. Individuals with 22q13.3 deletion syndrome who inherit an unbalanced translocation are missing genetic material from the long arm of chromosome 22, which results in the health problems characteristic of this disorder.


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[User] Is Schwannomatosis inherited ?

[Assistant] Is schwannomatosis inherited? Approximately 15% percent of all schwannomatosis cases are thought to be inherited. In these cases, the condition is thought to be inherited in an autosomal dominant manner with highly variable expressivity and reduced penetrance. This means that a person only needs a change (mutation) in one copy of the responsible gene in each cell to have a genetic predisposition to the tumors associated with schwannomatosis. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. People with an inherited form of schwannomatosis have a 50% chance with each pregnancy of passing the condition on to the next generation.


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[User] What are the genetic changes related to complete LCAT deficiency ?

[Assistant] Complete LCAT deficiency is caused by mutations in the LCAT gene. This gene provides instructions for making an enzyme called lecithin-cholesterol acyltransferase (LCAT).  The LCAT enzyme plays a role in removing cholesterol from the blood and tissues by helping it attach to molecules called lipoproteins, which carry it to the liver. Once in the liver, the cholesterol is redistributed to other tissues or removed from the body. The enzyme has two major functions, called alpha- and beta-LCAT activity. Alpha-LCAT activity helps attach cholesterol to a lipoprotein called high-density lipoprotein (HDL). Beta-LCAT activity helps attach cholesterol to other lipoproteins called very low-density lipoprotein (VLDL) and low-density lipoprotein (LDL).  LCAT gene mutations that cause complete LCAT deficiency either prevent the production of LCAT or impair both alpha-LCAT and beta-LCAT activity, reducing the enzyme's ability to attach cholesterol to lipoproteins. Impairment of this mechanism for reducing cholesterol in the body leads to cholesterol deposits in the corneas, kidneys, and other tissues and organs. LCAT gene mutations that affect only alpha-LCAT activity cause a related disorder called fish-eye disease that affects only the corneas.


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[User] What are the symptoms of Noonan-like syndrome with loose anagen hair ?

[Assistant] What are the signs and symptoms of Noonan-like syndrome with loose anagen hair? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan-like syndrome with loose anagen hair. 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% Delayed skeletal maturation 90% Low posterior hairline 90% Low-set, posteriorly rotated ears 90% Short nose 90% Short stature 90% Webbed neck 90% Abnormality of the pulmonary artery 50% Anteverted nares 50% Aplasia/Hypoplasia of the eyebrow 50% Deep philtrum 50% Epicanthus 50% Hydrocephalus 50% Hypertrophic cardiomyopathy 50% Macrotia 50% Pectus excavatum 50% Abnormality of the elbow 7.5% Abnormality of the fingernails 7.5% Abnormality of the intervertebral disk 7.5% Abnormality of the palate 7.5% Brachydactyly syndrome 7.5% Carious teeth 7.5% Cognitive impairment 7.5% Cryptorchidism 7.5% Hearing impairment 7.5% Hypertelorism 7.5% Hypoplastic toenails 7.5% Thick lower lip vermilion 7.5% Thin vermilion border 7.5% Eczema 5% Ichthyosis 5% Nasal speech 5% Atria septal defect - Autosomal dominant inheritance - Hyperactivity - Intellectual disability - Loose anagen hair - Low-set ears - Macrocephaly - Posteriorly rotated ears - Prominent forehead - Pulmonic stenosis - Short neck - Sparse scalp hair - Strabismus - Ventricular septal defect - 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.


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[User] What causes Zollinger-Ellison Syndrome ?

[Assistant]
Experts do not know the exact cause of Zollinger-Ellison syndrome. About 25 to 30 percent of gastrinomas are caused by an inherited genetic disorder called multiple endocrine neoplasia type 1 (MEN1).1 MEN1 causes hormone-releasing tumors in the endocrine glands and the duodenum. Symptoms of MEN1 include increased hormone levels in the blood, kidney stones, diabetes, muscle weakness, weakened bones, and fractures.

More information about MEN1 is provided in the NIDDK health topic, Multiple Endocrine Neoplasia Type 1.


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[User] Is junctional epidermolysis bullosa inherited ?

[Assistant] Both types of junctional epidermolysis bullosa are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.


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[User] What is (are) genitopatellar syndrome ?

[Assistant] 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.


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[User] Is mal de Meleda inherited ?

[Assistant] This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.


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[User] What is (are) Abdominal Adhesions ?

[Assistant] Abdominal adhesions are bands of  fibrous tissue that can form between abdominal tissues and organs. Normally, internal tissues and organs have slippery surfaces, preventing them from sticking together as the body moves. However, abdominal adhesions cause tissues and organs in the abdominal cavity to stick together.


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[User] What are the symptoms of Achard syndrome ?

[Assistant] What are the signs and symptoms of Achard syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Achard 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) Arachnodactyly - Autosomal dominant inheritance - Brachycephaly - Broad skull - Joint laxity - 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.


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[User] What are the symptoms of Diabetes ?

[Assistant] Many people with diabetes experience one or more symptoms, including extreme thirst or hunger, a frequent need to urinate and/or fatigue. Some lose weight without trying. Additional signs include sores that heal slowly, dry, itchy skin, loss of feeling or tingling in the feet and blurry eyesight. Some people with diabetes, however, have no symptoms at all.


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[User] What is (are) Branchiooculofacial syndrome ?

[Assistant] Branchiooculofacial syndrome (BOFS) is a very rare genetic disorder that is apparent at birth. Only about 50 cases of BOFS had been reported in the medical literature. Like its name implies, BOFS is characterized by skin defects, eye abnormalities, and distinctive facial features. Among the reported cases thus far, the symptoms may vary from mild to severe. BOFS is caused by mutations in the TFAP2A gene and inherited as an autosomal dominant trait.


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[User] Who is at risk for Lymphocytic Choriomeningitis (LCM)? ?

[Assistant] LCMV infections can occur after exposure to fresh urine, droppings, saliva, or nesting materials from infected rodents.  Transmission may also occur when these materials are directly introduced into broken skin, the nose, the eyes, or the mouth, or presumably, via the bite of an infected rodent. Person-to-person transmission has not been reported, with the exception of vertical transmission from infected mother to fetus, and rarely, through organ transplantation.


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[User] What are the symptoms of Vestibulocochlear dysfunction, progressive ?

[Assistant] What are the signs and symptoms of Vestibulocochlear dysfunction, progressive? The Human Phenotype Ontology provides the following list of signs and symptoms for Vestibulocochlear dysfunction, progressive. 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) Gait disturbance 90% Sensorineural hearing impairment 90% Abnormality of the nervous system - Autosomal dominant inheritance - Progressive hearing impairment - Tinnitus - Vestibular areflexia - 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.


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[User] What are the genetic changes related to spinal muscular atrophy with progressive myoclonic epilepsy ?

[Assistant] SMA-PME is caused by mutations in the ASAH1 gene. This gene provides instructions for making an enzyme called acid ceramidase. This enzyme is found in lysosomes, which are cell compartments that digest and recycle materials. Within lysosomes, acid ceramidase breaks down fats called ceramides into a fat called sphingosine and a fatty acid. These two breakdown products are recycled to create new ceramides for the body to use. Ceramides have several roles within cells. For example, they are a component of a fatty substance called myelin that insulates and protects nerve cells.  ASAH1 gene mutations that cause SMA-PME result in a reduction of acid ceramidase activity to a level less than one-third of normal. Inefficient breakdown of ceramides and impaired production of its breakdown products likely play a role in the nerve cell damage that leads to the features of SMA-PME, but the exact mechanism is unknown.


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[User] What are the genetic changes related to myofibrillar myopathy ?

[Assistant] Mutations in several genes can cause myofibrillar myopathy. These genes provide instructions for making proteins that play important roles in muscle fibers. Within muscle fibers, these proteins are involved in the assembly of structures called sarcomeres. Sarcomeres are necessary for muscles to tense (contract). The proteins associated with myofibrillar myopathy are normally active on rod-like structures within the sarcomere called Z-discs. Z-discs link neighboring sarcomeres together to form myofibrils, the basic unit of muscle fibers. The linking of sarcomeres and formation of myofibrils provide strength for muscle fibers during repeated muscle contraction and relaxation.  Gene mutations that cause myofibrillar myopathy disrupt the function of skeletal and cardiac muscle. Various muscle proteins form clumps (aggregates) in the muscle fibers of affected individuals. The aggregates prevent these proteins from functioning normally, which reduces linking between neighboring sarcomeres. As a result, muscle fiber strength is diminished.  At least six genes have been associated with myofibrillar myopathy. Mutations in these six genes account for approximately half of all cases of this condition. Mutations in the DES, MYOT, and LDB3 genes are responsible for the majority of cases of myofibrillar myopathy when the genetic cause is known.


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[User] How to prevent Atrial Fibrillation ?

[Assistant]
Following a healthy lifestyle and taking steps to lower your risk for heart disease may help you prevent atrial fibrillation (AF). These steps include:

Following a heart healthy diet that's low in saturated fat, trans fat, and cholesterol. A healthy diet includes a variety of whole grains, fruits, and vegetables daily.

Not smoking.

Being physically active.

Maintaining a healthy weight.

If you already have heart disease or other AF risk factors, work with your doctor to manage your condition. In addition to adopting the healthy habits above, which can help control heart disease, your doctor may advise you to:

Follow the DASH eating plan to help lower your blood pressure.

Keep your cholesterol and triglycerides at healthy levels with dietary changes and medicines (if prescribed).

Limit or avoid alcohol.

Control your blood sugar level if you have diabetes.

Get ongoing medical care and take your medicines as prescribed.

For more information about following a healthy lifestyle, visit the National Heart, Lung, and Blood Institute's Aim for a Healthy Weight Web site, "Your Guide to a Healthy Heart," "Your Guide to Lowering Your Blood Pressure With DASH," and "Your Guide to Physical Activity and Your Heart."


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[User] What are the symptoms of High Blood Cholesterol ?

[Assistant] High blood cholesterol usually does not have any signs or symptoms. Many people don't know that their cholesterol levels are too high. Who Should Be Tested Everyone age 20 and older should have their cholesterol levels checked at least once every 5 years. If your cholesterol level is high, you will have to be tested more often. You and your doctor should discuss how often you should be tested. Your doctor will take a sample of blood from a vein in your arm and send it to the laboratory to find out the level of cholesterol in your blood. Cholesterol Tests The recommended test is called a fasting lipoprotein profile. It will show your - total cholesterol  - LDL (bad) cholesterol, the main source of cholesterol buildup and blockage in your arteries  - HDL (good) cholesterol, which helps keep cholesterol from building up in your arteries  - triglycerides, another form of fat in your blood. total cholesterol LDL (bad) cholesterol, the main source of cholesterol buildup and blockage in your arteries HDL (good) cholesterol, which helps keep cholesterol from building up in your arteries triglycerides, another form of fat in your blood. You should not eat or drink anything except water or black coffee for 9 to 12 hours before taking the test. If you can't have a lipoprotein profile done, a different blood test will tell you your total cholesterol and HDL (good) cholesterol levels. You do not have to fast before this test. If this test shows that your total cholesterol is 200 mg/dL or higher, or that your HDL (good) cholesterol is less than 40 mg/dL, you will need to have a lipoprotein profile done. Cholesterol levels are measured in milligrams (mg) of cholesterol per deciliter (dL) of blood. The levels of blood cholesterol that are most important to know appear below. Ranges for Total Cholesterol Levels Here are the ranges for total cholesterol levels. Do you know how your cholesterol numbers compare? Ranges for LDL Cholesterol Levels Here are the ranges for LDL cholesterol levels. Do you know how your LDL cholesterol level compares? Ranges for HDL Cholesterol Levels Here are the ranges for HDL cholesterol levels. Do you know how your HDL cholesterol level compares? Triglyceride Levels A lipoprotein profile will also show the level of triglycerides in your blood. Triglycerides are another kind of fat that your liver makes. They can also signal an increased chance of developing heart disease. Normal levels of triglycerides are less than 150 mg/dl. If your triglyceride levels are borderline high (150-199 mg/dL) or high (200 mg/dL or more), you may need treatment. Things that can increase your triglyceride levels include - overweight  - physical inactivity  - cigarette smoking  - excessive alcohol use  - diabetes. overweight physical inactivity cigarette smoking excessive alcohol use diabetes. Other things that can increase your triglyceride levels include - a very high carbohydrate diet  - certain diseases and drugs  - genetic disorders. a very high carbohydrate diet certain diseases and drugs genetic disorders.


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[User] What to do for Hypoglycemia ?

[Assistant]
Two types of hypoglycemia can occur in people who do not have diabetes:

- Reactive hypoglycemia, also called postprandial hypoglycemia, occurs within 4 hours after meals.  - Fasting hypoglycemia, also called postabsorptive hypoglycemia, is often related to an underlying disease.

Symptoms of both reactive and fasting hypoglycemia are similar to diabetes-related hypoglycemia. Symptoms may include hunger, sweating, shakiness, dizziness, light-headedness, sleepiness, confusion, difficulty speaking, anxiety, and weakness.

To find the cause of a patient's hypoglycemia, the doctor will use laboratory tests to measure blood glucose, insulin, and other chemicals that play a part in the body's use of energy.

Reactive Hypoglycemia

Diagnosis

To diagnose reactive hypoglycemia, the doctor may

- ask about signs and symptoms  - test blood glucose while the patient is having symptoms by taking a blood sample from the arm and sending it to a laboratory for analysis*  - check to see whether the symptoms ease after the patient's blood glucose returns to 70 mg/dL or above after eating or drinking

A blood glucose level below 70 mg/dL at the time of symptoms and relief after eating will confirm the diagnosis. The oral glucose tolerance test is no longer used to diagnose reactive hypoglycemia because experts now know the test can actually trigger hypoglycemic symptoms.

Causes and Treatment

The causes of most cases of reactive hypoglycemia are still open to debate. Some researchers suggest that certain people may be more sensitive to the body's normal release of the hormone epinephrine, which causes many of the symptoms of hypoglycemia. Others believe deficiencies in glucagon secretion might lead to reactive hypoglycemia.

A few causes of reactive hypoglycemia are certain, but they are uncommon. Gastricor stomachsurgery can cause reactive hypoglycemia because of the rapid passage of food into the small intestine. Rare enzyme deficiencies diagnosed early in life, such as hereditary fructose intolerance, also may cause reactive hypoglycemia.

To relieve reactive hypoglycemia, some health professionals recommend

- eating small meals and snacks about every 3 hours  - being physically active  - eating a variety of foods, including meat, poultry, fish, or nonmeat sources of protein; starchy foods such as whole-grain bread, rice, and potatoes; fruits; vegetables; and dairy products  - eating foods high in fiber  - avoiding or limiting foods high in sugar, especially on an empty stomach

The doctor can refer patients to a registered dietitian for personalized meal planning advice. Although some health professionals recommend a diet high in protein and low in carbohydrates, studies have not proven the effectiveness of this kind of diet to treat reactive hypoglycemia.

Fasting Hypoglycemia

Diagnosis

Fasting hypoglycemia is diagnosed from a blood sample that shows a blood glucose level below 50 mg/dL after an overnight fast, between meals, or after physical activity.

Causes and Treatment

Causes of fasting hypoglycemia include certain medications, alcoholic beverages, critical illnesses, hormonal deficiencies, some kinds of tumors, and certain conditions occurring in infancy and childhood.

Medications. Medications, including some used to treat diabetes, are the most common cause of hypoglycemia. Other medications that can cause hypoglycemia include

- salicylates, including aspirin, when taken in large doses  - sulfa medications, which are used to treat bacterial infections  - pentamidine, which treats a serious kind of pneumonia  - quinine, which is used to treat malaria

If using any of these medications causes a person's blood glucose level to fall, the doctor may advise stopping the medication or changing the dose.

Alcoholic beverages. Drinking alcoholic beverages, especially binge drinking, can cause hypoglycemia. The body's breakdown of alcohol interferes with the liver's efforts to raise blood glucose. Hypoglycemia caused by excessive drinking can be serious and even fatal.

Critical illnesses. Some illnesses that affect the liver, heart, or kidneys can cause hypoglycemia. Sepsis, which is an overwhelming infection, and starvation are other causes of hypoglycemia. In these cases, treating the illness or other underlying cause will correct the hypoglycemia.

Hormonal deficiencies. Hormonal deficiencies may cause hypoglycemia in very young children, but rarely in adults. Shortages of cortisol, growth hormone, glucagon, or epinephrine can lead to fasting hypoglycemia. Laboratory tests for hormone levels will determine a diagnosis and treatment. Hormone replacement therapy may be advised.

Tumors. Insulinomas are insulin-producing tumors in the pancreas. Insulinomas can cause hypoglycemia by raising insulin levels too high in relation to the blood glucose level. These tumors are rare and do not normally spread to other parts of the body. Laboratory tests can pinpoint the exact cause. Treatment involves both short-term steps to correct the hypoglycemia and medical or surgical measures to remove the tumor.

Conditions occurring in infancy and childhood. Children rarely develop hypoglycemia. If they do, causes may include the following:

- Brief intolerance to fasting, often during an illness that disturbs regular eating patterns. Children usually outgrow this tendency by age 10.  - Hyperinsulinism, which is the overproduction of insulin. This condition can result in temporary hypoglycemia in newborns, which is common in infants of mothers with diabetes. Persistent hyperinsulinism in infants or children is a complex disorder that requires prompt evaluation and treatment by a specialist.  - Enzyme deficiencies that affect carbohydrate metabolism. These deficiencies can interfere with the body's ability to process natural sugars, such as fructose and galactose, glycogen, or other metabolites.  - Hormonal deficiencies such as lack of pituitary or adrenal hormones.

*A personal blood glucose monitor cannot be used to diagnose reactive hypoglycemia.


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[User] Is Neurofibromatosis type 1 inherited ?

[Assistant] How is neurofibromatosis type 1 inherited? Neurofibromatosis type 1 (NF1) is inherited in an autosomal dominant manner. This means that a person only needs a change (mutation) in one copy of the responsible gene in each cell to have a genetic predisposition to the tumors associated with NF1. In approximately half of cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene; these cases occur in people with no history of the disorder in their family. A person with NF1 has a 50% chance with each pregnancy of passing along the altered gene to his or her child.


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[User] What is (are) Hepatitis B ?

[Assistant] Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. Hepatitis is an inflammation of the liver. One type, hepatitis B, is caused by the hepatitis B virus (HBV). Hepatitis B spreads by contact with an infected person's blood, semen, or other body fluid. An infected woman can give hepatitis B to her baby at birth.    If you get HBV, you may feel as if you have the flu. You may also have jaundice, a yellowing of skin and eyes, dark-colored urine, and pale bowel movements. Some people have no symptoms at all. A blood test can tell if you have it. HBV usually gets better on its own after a few months. If it does not get better, it is called chronic HBV, which lasts a lifetime. Chronic HBV can lead to scarring of the liver, liver failure, or liver cancer.    There is a vaccine for HBV. It requires three shots. All babies should get the vaccine, but older children and adults can get it too. If you travel to countries where Hepatitis B is common, you should get the vaccine.    NIH: National Institute of Diabetes and Digestive and Kidney Diseases


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[User] Is adiposis dolorosa inherited ?

[Assistant] Most cases of adiposis dolorosa are sporadic, which means they occur in people with no history of the disorder in their family.  A small number of familial cases of adiposis dolorosa have been reported. When the condition runs in families, it appears to have an autosomal dominant pattern of inheritance because affected individuals inherit the condition from one affected parent. This pattern of inheritance suggests that one copy of an altered gene in each cell is sufficient to cause the disorder.


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[User] Is Rotor syndrome inherited ?

[Assistant] This condition is inherited in an autosomal recessive pattern. In autosomal recessive inheritance, both copies of a gene in each cell have mutations. In Rotor syndrome, an affected individual must have mutations in both the SLCO1B1 and the SLCO1B3 gene, so both copies of the two genes are altered. The parents of an individual with this condition each carry one altered copy of both genes, but they do not show signs and symptoms of the condition.


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[User] How many people are affected by nephrogenic diabetes insipidus ?

[Assistant] The prevalence of nephrogenic diabetes insipidus is unknown, although the condition is thought to be rare. The acquired form occurs more frequently than the hereditary form.


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[User] What are the symptoms of Hereditary neuralgic amyotrophy ?

[Assistant] What are the signs and symptoms of Hereditary neuralgic amyotrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary neuralgic amyotrophy. 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) Arthralgia 90% EMG abnormality 90% Muscle weakness 90% Polyneuropathy 90% Paresthesia 50% Sprengel anomaly 50% Acrocyanosis 7.5% Narrow mouth 7.5% Neurological speech impairment 7.5% Oral cleft 7.5% Respiratory insufficiency 7.5% Round face 7.5% Short stature 7.5% Sleep disturbance 7.5% Hyporeflexia 5% Autosomal dominant inheritance - Axonal degeneration - Blepharophimosis - Brachial plexus neuropathy - Cleft palate - Deeply set eye - Depressed nasal bridge - Epicanthus - Facial asymmetry - Hypotelorism - Low-set ears - Peripheral neuropathy - Ptosis - Skeletal muscle atrophy - Upslanted palpebral fissure - 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.


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[User] What is (are) Macrodactyly of the hand ?

[Assistant] Macrodactyly of the hand is a rare condition in which a person's fingers are abnormally large due to the overgrowth of the underlying bone and soft tissue. This condition is congenital, meaning that babies are born with it. Although babies are born with the condition, macrodactyly is usually not inherited. Most of the time, only one hand is affected, but usually more than one finger is involved. Macrodactyly may also coexist with syndactyly, a condition in which two fingers are fused together. Although it is a benign condition, macrodactyly is deforming and can look cosmetically displeasing. Surgery, usually involving multiple procedures, can help the problem.


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[User] What is (are) Peripheral Arterial Disease (P.A.D.) ?

[Assistant] Here are links to more information about P.A.D. from the National Heart, Lung, and Blood Institute. -  What Is Peripheral Arterial Disease?  -  Atherosclerosis  -  The DASH Eating Plan  - Facts about P.A.D.   - Facts about P.A.D. (Spanish)  - Facts About P.A.D. for African Americans  -  Keep the Beat: Heart Healthy Recipes  - Smoking and Your Heart  -   Your Guide to Physical Activity and Your Heart  -  Stay in Circulation: Take Steps to Learn about P.A.D. - Stay in Circulation: Take Steps to Learn about P.A.D. Wallet Card  - Your Guide to Lowering Your Blood Pressure with DASH  -  Your Guide to Lowering Your Cholesterol with TLC What Is Peripheral Arterial Disease? Atherosclerosis The DASH Eating Plan Facts about P.A.D.  Facts about P.A.D. (Spanish) Facts About P.A.D. for African Americans  Keep the Beat: Heart Healthy Recipes Smoking and Your Heart  Your Guide to Physical Activity and Your Heart Stay in Circulation: Take Steps to Learn about P.A.D. Stay in Circulation: Take Steps to Learn about P.A.D. Wallet Card Your Guide to Lowering Your Blood Pressure with DASH Your Guide to Lowering Your Cholesterol with TLC For print resources and materials on P.A.D. visit http://www.nhlbi.nih.gov/health/public/heart/pad/index.html


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[User] What is (are) Chronic Myeloid Leukemia ?

[Assistant] Leukemia is cancer of the white blood cells. White blood cells help your body fight infection. Your blood cells form in your bone marrow. In leukemia, the bone marrow produces abnormal white blood cells. These cells crowd out the healthy blood cells, making it hard for blood to do its work. In chronic myeloid leukemia (CML), there are too many granulocytes, a type of white blood cell.    Most people with CML have a gene mutation (change) called the Philadelphia chromosome.    Sometimes CML does not cause any symptoms. If you have symptoms, they may include:       - Fatigue    - Weight loss    - Night sweats    - Fever    - Pain or a feeling of fullness below the ribs on the left side       Tests that examine the blood and bone marrow diagnose CML. Treatments include chemotherapy, stem cell transplants, infusion of donated white blood cells following stem cell transplants, surgery to remove the spleen, and biologic and targeted therapies. Biologic therapy boosts your body's own ability to fight cancer. Targeted therapy uses substances that attack cancer cells without harming normal cells.    NIH: National Cancer Institute


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[User] Do you have information about Sports Fitness

[Assistant] Summary : Sports can be a great way to get in shape or stay that way. Having a specific goal can be a great motivator. Physically, you need strength and endurance. Your training will vary with your sport. You would not train the same way for pole vaulting as for swimming. You might, however, cross train. Cross training simply means that you include a variety of fitness activities in your program. Research shows that cross training builds stronger bones.     Remember to listen to your body. If you frequently feel exhausted or you are in pain, you may be overdoing it. Injuries can be the result. And be sure that you use your body and your equipment safely. What you eat and drink is also important. Water is the most important nutrient for active people. Drink it before, during and after workouts.


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[User] What are the symptoms of Pendred syndrome ?

[Assistant] What are the signs and symptoms of Pendred syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Pendred 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) Sensorineural hearing impairment 90% Goiter 50% Hypothyroidism 50% Cognitive impairment 7.5% Hyperparathyroidism 7.5% Incoordination 7.5% Neoplasm of the thyroid gland 7.5% Nephropathy 7.5% Neurological speech impairment 7.5% Respiratory insufficiency 7.5% Tracheal stenosis 7.5% Vertigo 7.5% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Cochlear malformation - Compensated hypothyroidism - Congenital sensorineural hearing impairment - Intellectual disability - Thyroid carcinoma - Vestibular dysfunction - 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.


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[User] How many people are affected by frontonasal dysplasia ?

[Assistant] Frontonasal dysplasia is likely a rare condition; at least 100 cases have been reported in the scientific literature.


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[User] What is (are) Multiple System Atrophy ?

[Assistant] Multiple system atrophy (MSA) is a progressive neurodegenerative disorder characterized by symptoms of autonomic nervous system failure such as fainting spells and bladder control problems, combined with motor control symptoms such as tremor, rigidity, and loss of muscle coordination. MSA affects both men and women primarily in their 50s. Although what causes MSA is unknown, the disorder's symptoms reflect the loss of nerve cells in several different areas in the brain and spinal cord that control the autonomic nervous system and coordinate muscle movements. The loss of nerve cells may be due to the buildup of a protein called alpha-synuclein in the cells that support nerve cells in the brain.


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[User] What are the genetic changes related to Danon disease ?

[Assistant] Danon disease is caused by mutations in the LAMP2 gene. The LAMP2 gene provides instructions for making a protein called lysosomal associated membrane protein-2 (LAMP-2), which, as its name suggests, is found in the membrane of cellular structures called lysosomes. Lysosomes are compartments in the cell that digest and recycle materials. The role the LAMP-2 protein plays in the lysosome is unclear. Some researchers think the LAMP-2 protein may help transport cellular materials or digestive enzymes into the lysosome. The transport of cellular materials into lysosomes requires the formation of cellular structures called autophagic vacuoles (or autophagosomes), which then attach (fuse) to lysosomes. The LAMP-2 protein may be involved in the fusion between autophagic vacuoles and lysosomes.  Mutations in the LAMP2 gene lead to the production of very little or no LAMP-2 protein, which may impair the process of transporting cellular material into the lysosome. Some studies have shown that in cells without the LAMP-2 protein, fusion between autophagic vacuoles and lysosomes occurs more slowly, which may lead to the accumulation of autophagic vacuoles. People with Danon disease have an abnormally large number of autophagic vacuoles in their muscle cells. It is possible that this accumulation leads to breakdown of the muscle cells, causing the muscle weakness seen in Danon disease.


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[User] What are the treatments for Lipodermatosclerosis ?

[Assistant] How might lipodermatosclerosis be treated? Lipodermatosclerosis is primarily treated with compression therapy to improve venous insufficiency. Other strategies for managing venous insufficiency include leg elevation; not sitting or standing in one place for long periods of time; regular exercise; and weight loss if overweight or obese. Some affected people may require medications to prevent blood clotting; reduce pain and inflammation; and/or increase blood flow. Depending on the severity of the condition and the response to initial treatments, vein surgery may be recommended.


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[User] What are the symptoms of Hemophagocytic lymphohistiocytosis ?

[Assistant] What are the signs and symptoms of Hemophagocytic lymphohistiocytosis? The signs and symptoms of hemophagocytic lymphohistiocytosis typically develop during the first months or years of life. However, in rare cases, affected people may not show symptoms until later in childhood or even into adulthood. The features of this condition may include: Fever Enlarged liver and/or spleen Skin rash Lymph node enlargement Breathing problems Easy bruising and/or abnormal bleeding Kidney abnormalities Heart problems Increased risk for certain cancers (leukemia, lymphoma) Many people with this condition also develop neurologic abnormalities. The neurological symptoms vary but may include irritability, fatigue, abnormal muscle tone, seizures, neck stiffness, mental status changes, ataxia, blindness, paralysis, and/or coma. The Human Phenotype Ontology provides the following list of signs and symptoms for Hemophagocytic lymphohistiocytosis. 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) Reduced natural killer cell activity 13/13 Granulocytopenia 11/14 Neutropenia 5/7 Abnormal natural killer cell physiology - Anemia - Ataxia - Autosomal recessive inheritance - Coma - CSF pleocytosis - Encephalitis - Episodic fever - Failure to thrive - Fever - Generalized edema - Hemiplegia - Hemophagocytosis - Hepatomegaly - Hepatosplenomegaly - Hyperbetalipoproteinemia - Hypertonia - Hypertriglyceridemia - Hypoalbuminemia - Hypoalphalipoproteinemia - Hypofibrinogenemia - Hyponatremia - Hypoproteinemia - Increased circulating very-low-density lipoprotein cholesterol - Increased CSF protein - Increased intracranial pressure - Increased serum ferritin - Increased total bilirubin - Irritability - Jaundice - Leukopenia - Lymphadenopathy - Meningitis - Muscular hypotonia - Prolonged partial thromboplastin time - Prolonged prothrombin time - Seizures - Splenomegaly - Tetraplegia - Thrombocytopenia - 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.


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[User] What are the treatments for spastic paraplegia type 2 ?

[Assistant] These resources address the diagnosis or management of spastic paraplegia type 2:  - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview  - Gene Review: Gene Review: PLP1-Related Disorders  - Genetic Testing Registry: Spastic paraplegia 2  - Spastic Paraplegia Foundation, Inc.: Treatments and Therapies   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


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[User] What are the genetic changes related to cleidocranial dysplasia ?

[Assistant] The RUNX2 gene provides instructions for making a protein that is involved in bone and cartilage development and maintenance. This protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Researchers believe that the RUNX2 protein acts as a "master switch," regulating a number of other genes involved in the development of cells that build bones (osteoblasts).  Some mutations change one protein building block (amino acid) in the RUNX2 protein. Other mutations introduce a premature stop signal that results in an abnormally short protein. Occasionally, the entire gene is missing.  These genetic changes reduce or eliminate the activity of the protein produced from one copy of the RUNX2 gene in each cell, decreasing the total amount of functional RUNX2 protein. This shortage of functional RUNX2 protein interferes with normal bone and cartilage development, resulting in the signs and symptoms of cleidocranial dysplasia. In rare cases, affected individuals may experience additional, unusual symptoms resulting from the loss of other genes near RUNX2.  In about one-third of individuals with cleidocranial dysplasia, no mutation in the RUNX2 gene has been found. The cause of the condition in these individuals is unknown.


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[User] Is Laron syndrome inherited ?

[Assistant] Most cases of Laron syndrome are inherited in an autosomal recessive pattern, which means both copies of the GHR gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.  Much less commonly, the condition has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most of these cases, an affected person has one parent with the condition.


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[User] What is (are) Factor XIII deficiency ?

[Assistant] Factor XIII deficiency is an extremely rare inherited blood disorder characterized by abnormal blood clotting that may result in abnormal bleeding. Signs and symptoms occur as the result of a deficiency in the blood clotting factor 13, which is responsible for stabilizing the formation of a blood clot. In affected individuals, the blood fails to clot appropriately, resulting in poor wound healing. Blood may seep into surrounding soft tissues, resulting in local pain and swelling. Internal bleeding may occur; about 25 percent of affected individuals experience bleeding in the brain. FXIII deficiency is usually caused by mutations in the F13A1 gene, but mutations have also been found in the F13B gene. It is usually inherited in an autosomal recessive fashion. Acquired forms have also been reported in association with liver failure, inflammatory bowel disease, and myeloid leukemia.


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[User] What is (are) Bowel Incontinence ?

[Assistant] Bowel incontinence is the inability to control your bowels. When you feel the urge to have a bowel movement, you may not be able to hold it until you get to a toilet. Millions of Americans have this problem. It affects people of all ages - children and adults. It is more common in women and older adults. It is not a normal part of aging.    Causes include       - Constipation    - Damage to muscles or nerves of the anus and rectum    - Diarrhea    - Pelvic support problems       Treatments include changes in diet, medicines, bowel training, or surgery.     NIH: National Institute of Diabetes and Digestive and Kidney Diseases


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[User] How many people are affected by adiposis dolorosa ?

[Assistant] Adiposis dolorosa is a rare condition whose prevalence is unknown. For reasons that are unclear, it occurs up to 30 times more often in women than in men.


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[User] What are the symptoms of Multiple endocrine neoplasia type 2B ?

[Assistant] What are the signs and symptoms of Multiple endocrine neoplasia type 2B? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple endocrine neoplasia type 2B. 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 skin - Aganglionic megacolon - Autosomal dominant inheritance - Colonic diverticula - Constipation - Diarrhea - Disproportionate tall stature - Elevated calcitonin - Elevated urinary epinephrine - Failure to thrive in infancy - Ganglioneuroma - High palate - Hyperlordosis - Joint laxity - Kyphosis - Medullary thyroid carcinoma - Muscular hypotonia - Myopathy - Nodular goiter - Parathyroid hyperplasia - Pectus excavatum - Pes cavus - Pheochromocytoma - Proximal femoral epiphysiolysis - Scoliosis - Thick eyebrow - Thick lower lip vermilion - 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.


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[User] How many people are affected by Barth syndrome ?

[Assistant] Barth syndrome is estimated to affect 1 in 300,000 to 400,000 individuals worldwide. More than 150 cases have been described in the scientific literature.


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[User] What are the treatments for Laron syndrome ?

[Assistant] How might Laron syndrome be treated? There is currently no cure for Laron syndrome. Treatment is primarily focused on improving growth. The only specific treatment available for this condition is subcutaneous injections of insulin-like growth factor 1 (a growth-promoting hormone), often called IGF-1. IGF-1 stimulates linear growth (height) and also improves brain growth and metabolic abnormalities caused by long-term IGF-1 deficiency. It has also been shown to raise blood glucose levels, reduce cholesterol, and increase muscle growth. IGF-1 and GH levels should be closely monitored in people undergoing this treatment because overdosage of IGF-I causes a variety of health problems.


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[User] what research (or clinical trials) is being done for Metachromatic Leukodystrophy ?

[Assistant] The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of 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 (NIH), the leading supporter of biomedical research in the world. Research funded by the NINDS focuses on better understanding how neurological defects arise in lipid storage disorders and on the development of new treatments targeting disease mechanisms, including gene therapies, cell-based therapies, and pharmacological approaches. NINDS-funded preclinical research aims to study the effectiveness and safety of virus-based delivery of the normal ARSA gene to promote gene expression throughout the central nervous system and overcome the mutation-caused deficiency. If successful, the project could lead to trials in humans. Other research hopes to study the use of patient-specific induced pluripotent stem cells (cells that are capable of becoming other types of cells) in correcting the gene deficiency in metachromatic leukodystrophy.


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[User] What is (are) Constipation ?

[Assistant] Constipation means that a person has three or fewer bowel movements in a week. The stool can be hard and dry. Sometimes it is painful to pass. At one time or another, almost everyone gets constipated. In most cases, it lasts a short time and is not serious.     There are many things you can do to prevent constipation. They include       -  Eating more fruits, vegetables and grains, which are high in fiber    -  Drinking plenty of water and other liquids    -  Getting enough exercise    -  Taking time to have a bowel movement when you need to    -  Using laxatives only if your doctor says you should    -  Asking your doctor if medicines you take may cause constipation           It's not important that you have a bowel movement every day. If your bowel habits change, however, check with your doctor.     NIH: National Institute of Diabetes and Digestive and Kidney Diseases


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[User] How many people are affected by X-linked lymphoproliferative disease ?

[Assistant] XLP1 is estimated to occur in about 1 per million males worldwide. XLP2 is less common, occurring in about 1 per 5 million males.


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[User] What is (are) Mucolipidosis type 4 ?

[Assistant] Mucolipidosis type 4 is a metabolic condition that affects the body's ability to process certain carbohydrates and fats. As a result, these materials accumulate in cells leading to the various signs and symptoms of the condition. Most people with mucolipidosis type 4 develop severe psychomotor (mental and motor skills) delay by the end of the first year of life and visual impairment that worsens over time. Other common features of the condition include limited or absent speech; intellectual disability; hypotonia that gradually progresses to spasticity; problems controlling hand movements; impaired production of stomach acids; and iron deficiency. Approximately 5% of affected people have a mild form of the condition (known as atypical mucolipidosis type 4) which is associated with milder psychomotor delay and less severe eye abnormalities. Mucolipidosis type 4 is caused by changes (mutations) in the MCOLN1 gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.


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[User] What are the treatments for Prostate Cancer ?

[Assistant] If tests show that you have cancer, you should talk with your doctor in order to make treatment decisions. Working With a Team of Specialists A team of specialists often treats people with cancer. The team will keep the primary doctor informed about the patient's progress. The team may include a medical oncologist who is a specialist in cancer treatment, a surgeon, a radiation oncologist who is a specialist in radiation therapy, and others. Before starting treatment, you may want another doctor to review the diagnosis and treatment plan. Some insurance companies require a second opinion. Others may pay for a second opinion if you request it. Clinical Trials for Prostate Cancer Some prostate cancer patients take part in studies of new treatments. These studies -- called clinical trials -- are designed to find out whether a new treatment is safe and effective. Often, clinical trials compare a new treatment with a standard one so that doctors can learn which is more effective. Men with prostate cancer who are interested in taking part in a clinical trial should talk with their doctor. The U.S. National Institutes of Health, through its National Library of Medicine and other Institutes, maintains a database of clinical trials at ClinicalTrials.gov. Click here to see a list of the current clinical trials on prostate cancer. A separate window will open. Click the "x" in the upper right hand corner of the "Clinical Trials" window to return here.


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[User] Who is at risk for Atrial Fibrillation? ?

[Assistant]
Atrial fibrillation (AF) affects millions of people, and the number is rising. Men are more likely than women to have the condition. In the United States, AF is more common among Whites than African Americans or Hispanic Americans.

The risk of AF increases as you age. This is mostly because your risk for heart disease and other conditions that can cause AF also increases as you age. However, about half of the people who have AF are younger than 75.

AF is uncommon in children.

Major Risk Factors

AF is more common in people who have:

High blood pressure

Coronary heart disease (CHD)

Heart failure

Rheumatic (ru-MAT-ik) heart disease

Structural heart defects, such as mitral valve prolapse

Pericarditis (PER-i-kar-DI-tis; a condition in which the membrane, or sac, around your heart is inflamed)

Congenital heart defects

Sick sinus syndrome (a condition in which the heart's electrical signals don't fire properly and the heart rate slows down; sometimes the heart will switch back and forth between a slow rate and a fast rate)

AF also is more common in people who are having heart attacks or who have just had surgery.

Other Risk Factors

Other conditions that raise your risk for AF include hyperthyroidism (too much thyroid hormone), obesity, diabetes, and lung disease.

Certain factors also can raise your risk for AF. For example, drinking large amounts of alcohol, especially binge drinking, raises your risk. Even modest amounts of alcohol can trigger AF in some people. Caffeine or psychological stress also may trigger AF in some people.

Some data suggest that people who have sleep apnea are at greater risk for AF. Sleep apnea is a common disorder that causes one or more pauses in breathing or shallow breaths while you sleep.

Metabolic syndrome also raises your risk for AF. Metabolic syndrome is the name for a group of risk factors that raises your risk for CHD and other health problems, such as diabetes and stroke.

Research suggests that people who receive high-dose steroid therapy are at increased risk for AF. This therapy is used for asthma and some inflammatory conditions. It may act as a trigger in people who have other AF risk factors.

Genetic factors also may play a role in causing AF. However, their role isn't fully known.


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[User] How many people are affected by acute promyelocytic leukemia ?

[Assistant] Acute promyelocytic leukemia accounts for about 10 percent of acute myeloid leukemia cases. Acute promyelocytic leukemia occurs in approximately 1 in 250,000 people in the United States.


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[User] What is (are) Oligoastrocytoma ?

[Assistant] Oligoastrocytoma is a brain tumor that forms when two types of cells in the brain, called oligodendrocytes and astrocytes, rapidly increase in number to form a mass.  These brain cells are known as glial cells, which normally protect and support nerve cells in the brain.  Because an oligoastrocytoma is made up of a combination of two cell types, it is known as a mixed glioma.  Oligoastrocytomas usually occur in a part of the brain called the cerebrum and are diagnosed in adults between the ages of 30 and 50.  The exact cause of this condition is unknown.


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[User] Who is at risk for Arrhythmia? ?

[Assistant]
Arrhythmias are very common in older adults. Atrial fibrillation (a common type of arrhythmia that can cause problems) affects millions of people, and the number is rising.

Most serious arrhythmias affect people older than 60. This is because older adults are more likely to have heart disease and other health problems that can lead to arrhythmias.

Older adults also tend to be more sensitive to the side effects of medicines, some of which can cause arrhythmias. Some medicines used to treat arrhythmias can even cause arrhythmias as a side effect.

Some types of arrhythmia happen more often in children and young adults. Paroxysmal supraventricular tachycardia (PSVT), including Wolff-Parkinson-White syndrome, is more common in young people. PSVT is a fast heart rate that begins and ends suddenly.

Major Risk Factors

Arrhythmias are more common in people who have diseases or conditions that weaken the heart, such as:

Heart attack

Heart failure or cardiomyopathy, which weakens the heart and changes the way electrical signals move through the heart

Heart tissue that's too thick or stiff or that hasn't formed normally

Leaking or narrowed heart valves, which make the heart work too hard and can lead to heart failure

Congenital heart defects (defects present at birth) that affect the heart's structure or function

Other conditions also can raise the risk for arrhythmias, such as:

High blood pressure

Infections that damage the heart muscle or the sac around the heart

Diabetes, which increases the risk of high blood pressure and coronary heart disease

Sleep apnea, which can stress the heart because the heart doesn't get enough oxygen

An overactive or underactive thyroid gland (too much or too little thyroid hormone in the body)

Several other risk factors also can raise your risk for arrhythmias. Examples include heart surgery, certain drugs (such as cocaine or amphetamines), or an imbalance of chemicals or other substances (such as potassium) in the bloodstream.


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[User] What are the symptoms of Spondylometaphyseal dysplasia with dentinogenesis imperfecta ?

[Assistant] What are the signs and symptoms of Spondylometaphyseal dysplasia with dentinogenesis imperfecta? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylometaphyseal dysplasia with dentinogenesis imperfecta. 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) Brachydactyly syndrome 90% Joint hypermobility 90% Micromelia 90% Narrow chest 90% Platyspondyly 90% Short stature 90% Delayed eruption of teeth 50% Scoliosis 50% Depressed nasal bridge 7.5% Frontal bossing 7.5% Patent ductus arteriosus 7.5% Short nose 7.5% Strabismus 7.5% Autosomal dominant inheritance - Biconvex vertebral bodies - Cone-shaped epiphyses of the phalanges of the hand - Coronal cleft vertebrae - Delayed ossification of carpal bones - Dentinogenesis imperfecta - Flared iliac wings - Flat acetabular roof - Genu recurvatum - Genu varum - Irregular epiphyses - Long philtrum - Mesomelia - Metaphyseal cupping - Metaphyseal widening - Motor delay - Narrow face - Osteoporosis - Pectus carinatum - Prominent forehead - Respiratory distress - Short long bone - Short metacarpal - Short phalanx of finger - Small epiphyses - Spondylometaphyseal dysplasia - 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.


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[User] What are the treatments for familial paroxysmal kinesigenic dyskinesia ?

[Assistant] These resources address the diagnosis or management of familial paroxysmal kinesigenic dyskinesia:  - Gene Review: Gene Review: Familial Paroxysmal Kinesigenic Dyskinesia  - Genetic Testing Registry: Dystonia 10   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


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[User] Is cleidocranial dysplasia inherited ?

[Assistant] This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.


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[User] What is (are) Abortion ?

[Assistant] An abortion is a procedure to end a pregnancy. It uses medicine or surgery to remove the embryo or fetus and placenta from the uterus. The procedure is done by a licensed health care professional.    The decision to end a pregnancy is very personal. If you are thinking of having an abortion, most healthcare providers advise counseling.


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[User] what research (or clinical trials) is being done for Kidney Disease ?

[Assistant] There are many researchers who are working on kidney disease. They are looking for ways to improve diagnosis, make treatments more effective, and make dialysis and transplantation work better. Several areas of research supported by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) hold great potential. Emphasis is being placed on research related to prevention and early intervention in kidney disease. Another focus is on the interaction between diabetes, kidney disease, and cardiovascular disease. Advances in treatments for diabetes and high blood pressure may help reduce the damage these conditions do to the kidneys in the first place. Research into how to predict who will develop kidney disease may improve prevention.


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[User] What are the treatments for lactose intolerance ?

[Assistant] These resources address the diagnosis or management of lactose intolerance:  - Genetic Testing Registry: Congenital lactase deficiency  - Genetic Testing Registry: Nonpersistence of intestinal lactase  - MedlinePlus Encyclopedia: Lactose Intolerance  - MedlinePlus Encyclopedia: Lactose Tolerance Tests   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


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[User] Who is at risk for Parasites - Fascioliasis (Fasciola Infection)? ?

[Assistant]
Fascioliasis occurs in many areas of the world and usually is caused by F. hepatica, which is a common liver fluke of sheep and cattle. In general, fascioliasis is more common and widespread in animals than in people. Even so, the number of infected people in the world is thought to exceed 2 million.

Fasciola hepatica is found in more than 50 countries, in all continents except Antarctica. It is found in parts of Latin America, the Caribbean, Europe, the Middle East, Africa, Asia, and Oceania. Fasciola gigantica is less widespread. Human cases have been reported in the tropics, in parts of Africa and Asia, and also in Hawaii.

In some areas where fascioliasis is found, human cases are uncommon (sporadic). In other areas, human fascioliasis is very common (hyperendemic). For example, the areas with the highest known rates of human infection are in the Andean highlands of Bolivia and Peru.

Special conditions are needed for fascioliasis to be present in an area, and its geographic distribution is very patchy (focal). The eggs passed in the stool of infected mammals have to develop (mature) in a suitable aquatic snail host to be able to infect another mammalian host. Requirements include sufficient moisture and favorable temperatures (above 50°F) that allow the development of miracidia, reproduction of snails, and larval development within the snails. These factors also contribute to both the prevalence and level (intensity) of infection. Prevalence is highest in areas where climatic conditions promote development of cercariae.

More on: Biology

Infective Fasciola larvae (metacercariae) are found in contaminated water, either stuck to (encysted on) water plants or floating in the water, often in marshy areas, ponds, or flooded pastures. People (and animals) typically become infected by eating raw watercress or other contaminated water plants. The plants may be eaten as a snack or in salads or sandwiches. People also can get infected by ingesting contaminated water, such as by drinking it or by eating vegetables that were washed or irrigated with contaminated water. Infection also can result from eating undercooked sheep or goat livers that contain immature forms of the parasite.

The possibility of becoming infected in the United States should be considered, despite the fact that few locally acquired cases have been documented. The prerequisites for the Fasciola life cycle exist in some parts of the United States. In addition, transmission because of imported contaminated produce could occur, as has been documented in Europe.


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[User] What are the treatments for Atrial Fibrillation and Stroke ?

[Assistant] Within a few hours after onset of a stroke, treatment with drugs or devices that dissolve or break up the clot can restore blood flow to the brain and lead to a better recovery. To prevent strokes related to AF, doctors often prescribe medications to prevent formation of clots in the heart, which can travel to the brain and cause stroke. Immediately after a stroke, doctors may temporarily administer heparin by injection, while starting an oral medication for long-term protection from clots. The most commonly used drug has been warfarin. People taking warfarin must be closely monitored to make sure their blood is thin enough to prevent clots, but not so thin as to promote bleeding. Since some foods, vitamin supplements, and medications can affect warfarin action, keeping the blood just thin enough can be tricky. More recently, a number of new blood thinners, including dabigatran, rivaroxaban, and apixaban, have been shown to be as effective as warfarin in stroke prevention. These newer medications do not require regular blood test monitoring and may have less tendency to cause bleeding due to making the blood too thin. Some individuals with AF may have a lower risk of stroke and may be treated with aspirin, either alone or with another antiplatelet agency like clopidogrel. Other treatments for AF include medications such as beta blockers or calcium channel blockers to slow the heartbeat, and anti-arrhythmic drugs or electrical cardioversion (which delivers an electrical shock to the heart) to normalize the heartbeat.


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[User] what research (or clinical trials) is being done for Coma ?

[Assistant] The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to coma in their laboratories at the NIH and also support additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent and treat coma.


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[User] What are the treatments for Chronic Myelogenous Leukemia ?

[Assistant] See the PDQ summary about Chronic Myelogenous Leukemia Treatment for information.


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[User] Is nephrogenic diabetes insipidus inherited ?

[Assistant] When nephrogenic diabetes insipidus results from mutations in the AVPR2 gene, the condition has an X-linked recessive pattern of inheritance. The AVPR2 gene is located on the X chromosome, which is 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 usually has to occur in both copies of the gene to cause the disorder. However, some females who carry a single mutated copy of the AVPR2 gene have features of nephrogenic diabetes insipidus, including polyuria and polydipsia. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.  When nephrogenic diabetes insipidus is caused by mutations in the AQP2 gene, it can have either an autosomal recessive or, less commonly, an autosomal dominant pattern of inheritance. In autosomal recessive inheritance, both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. In autosomal dominant inheritance, one mutated copy of the AQP2 gene in each cell is sufficient to cause the disorder.


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[User] What are the symptoms of Prader-Willi habitus, osteopenia, and camptodactyly ?

[Assistant] What are the signs and symptoms of Prader-Willi habitus, osteopenia, and camptodactyly? The Human Phenotype Ontology provides the following list of signs and symptoms for Prader-Willi habitus, osteopenia, and camptodactyly. 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 form of the vertebral bodies 90% Camptodactyly of finger 90% Camptodactyly of toe 90% Cognitive impairment 90% Hypoplasia of penis 90% Obesity 90% Recurrent fractures 90% Abnormal diaphysis morphology 50% Brachydactyly syndrome 50% Clinodactyly of the 5th finger 50% Cryptorchidism 50% Epicanthus 50% Eunuchoid habitus 50% Kyphosis 50% Overfolded helix 50% Prominent nasal bridge 50% Short foot 50% Short neck 50% Short stature 50% Strabismus 50% Toe syndactyly 50% Upslanted palpebral fissure 50% Abnormality of the philtrum 7.5% Abnormality of the ureter 7.5% Aplasia/Hypoplasia of the earlobes 7.5% Abnormality of the genital system - Autosomal recessive inheritance - Camptodactyly - Enlarged epiphyses - Intellectual disability - Joint contracture of the hand - Osteopenia - Osteoporosis - 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.


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[User] What is (are) steatocystoma multiplex ?

[Assistant] Steatocystoma multiplex is a skin disorder characterized by the development of multiple noncancerous (benign) cysts known as steatocystomas. These growths begin in the skin's sebaceous glands, which normally produce an oily substance called sebum that lubricates the skin and hair. Steatocystomas are filled with sebum.  In affected individuals, steatocystomas typically first appear during adolescence and are found most often on the torso, neck, upper arms, and upper legs. In most people with steatocystoma multiplex, these cysts are the only sign of the condition. However, some affected individuals also have mild abnormalities involving the teeth or the fingernails and toenails.


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[User] Is Primary hyperoxaluria type 2 inherited ?

[Assistant] How is primary hyperoxaluria type 2 inherited? Primary hyperoxaluria type 2 is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.


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[User] What are the genetic changes related to androgen insensitivity syndrome ?

[Assistant] Mutations in the AR gene cause androgen insensitivity syndrome. This gene provides instructions for making a protein called an androgen receptor. Androgen receptors allow cells to respond to androgens, which are hormones (such as testosterone) that direct male sexual development. Androgens and androgen receptors also have other important functions in both males and females, such as regulating hair growth and sex drive. Mutations in the AR gene prevent androgen receptors from working properly, which makes cells less responsive to androgens or prevents cells from using these hormones at all. Depending on the level of androgen insensitivity, an affected person's sex characteristics can vary from mostly female to mostly male.


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[User] What are the symptoms of NADH cytochrome B5 reductase deficiency ?

[Assistant] What are the signs and symptoms of NADH cytochrome B5 reductase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for NADH cytochrome B5 reductase deficiency. 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 - Cyanosis - Exertional dyspnea - Growth delay - Headache - Hypertonia - Intellectual disability - Methemoglobinemia - Microcephaly - Opisthotonus - Polycythemia - Strabismus - 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.


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[User] Is Hypophosphatemic rickets inherited ?

[Assistant] How is hypophosphatemic rickets inherited? Hypophosphatemic rickets is most often inherited in an X-linked dominant manner. This means that the gene responsible for the condition is located on the X chromosome, and having only one mutated copy of the gene is enough to cause the condition. Because males have only one X chromosome (and one Y chromosome) and females have two X chromosomes, X-linked dominant conditions affect males and females differently. Both males and females can have an X-linked dominant condition. However, because males don't have a second, working copy of the gene (as females do), they usually have more severe disease than females. If a father has the mutated X-linked gene: all of his daughters will inherit the mutated gene (they will all receive his X chromosome) none of his sons will inherit the mutated gene (they only inherit his Y chromosome) If a mother has the mutated X-linked gene, each of her children (both male and female) has a 50% chance to inherit the mutated gene. Less commonly, hypophosphatemic rickets is inherited in an X-linked recessive, autosomal dominant, or autosomal recessive manner.


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[User] Do you have information about Drugs and Young People

[Assistant] Summary : Drug abuse is a serious public health problem. It affects almost every community and family in some way. Drug abuse in children and teenagers may pose a greater hazard than in older people. This is because their brains are not yet fully developed. As a result, the brains of young people may be more susceptible to drug abuse and addiction than adult brains.    Abused drugs include       - Amphetamines     - Anabolic steroids     - Club drugs    - Cocaine     - Heroin     - Inhalants    - Marijuana    - Prescription drugs       There are different types of treatment for drug abuse. But it is better to prevent drug abuse in the first place.    NIH: National Institute on Drug Abuse


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[User] What is (are) Glioblastoma ?

[Assistant] Glioblastoma is a malignant (cancerous) brain tumor that develops from a specific type of brain cell called an astrocyte. These cells help support and nourish neurons (nerve cells of the brain) and form scar tissue that helps repair brain damage in response to injury. Glioblastomas are often very aggressive and grow into surrounding brain tissue. Signs and symptoms, such as headache, nausea, vomiting and/or drowsiness, may develop when the tumor begins to put excess pressure on the brain. Affected people may also experience other features depending on the size and location of the tumor. In most cases, the exact underlying cause is unknown; however, they can rarely occur in people with certain genetic syndromes such as neurofibromatosis type 1, Turcot syndrome and Li Fraumeni syndrome. There is currently no cure for glioblastoma. Treatment is palliative and may include surgery, radiation therapy and/or chemotherapy.


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[User] Do you have information about African American Health

[Assistant] Summary : Every racial or ethnic group has specific health concerns. Differences in the health of groups can result from       - Genetics    - Environmental factors    - Access to care    - Cultural factors        On this page, you'll find links to health issues that affect African Americans.


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[User] What are the treatments for Greig cephalopolysyndactyly syndrome ?

[Assistant] These resources address the diagnosis or management of Greig cephalopolysyndactyly syndrome:  - Gene Review: Gene Review: Greig Cephalopolysyndactyly Syndrome  - Genetic Testing Registry: Greig cephalopolysyndactyly syndrome  - MedlinePlus Encyclopedia: Polydactyly  - MedlinePlus Encyclopedia: Syndactyly (image)   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


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[User] What are the symptoms of Congenital generalized lipodystrophy type 2 ?

[Assistant] What are the signs and symptoms of Congenital generalized lipodystrophy type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital generalized lipodystrophy type 2. 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) Acanthosis nigricans - Accelerated skeletal maturation - Acute pancreatitis - Autosomal recessive inheritance - Cirrhosis - Clitoromegaly - Congenital onset - Cystic angiomatosis of bone - Decreased fertility - Decreased fertility in females - Decreased serum leptin - Generalized muscular appearance from birth - Hepatic steatosis - Hepatomegaly - Hirsutism - Hyperinsulinemia - Hypertriglyceridemia - Hypertrophic cardiomyopathy - Insulin-resistant diabetes mellitus at puberty - Intellectual disability, mild - Labial hypertrophy - Large hands - Lipodystrophy - Long foot - Mandibular prognathia - Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic) - Polycystic ovaries - Polyphagia - Prominent umbilicus - Splenomegaly - Tall stature - Umbilical hernia - 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.