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[User] How to diagnose Intestinal Pseudo-obstruction ?

[Assistant]
To diagnose intestinal pseudo-obstruction, a health care provider may suggest the person consult a gastroenterologista doctor who specializes in digestive diseases. A health care provider will perform a physical exam; take a complete medical history, imaging studies, and a biopsy; and perform blood tests. A health care provider may order other tests to confirm the diagnosis. The health care provider also will look for the cause of the condition, such as an underlying illness.

Intestinal pseudo-obstruction can be difficult to diagnose, especially primary intestinal pseudo-obstruction. As a result, a correct diagnosis may take a long time.

Physical Exam

A physical exam is one of the first things a health care provider may do to help diagnose intestinal pseudo-obstruction. During a physical exam, a health care provider usually

- examines a persons body  - uses a stethoscope to listen to bodily sounds  - taps on specific areas of the persons body

Medical History

The health care provider will ask a person to provide a medical and family history to help diagnose intestinal pseudo-obstruction.

Imaging Studies

A health care provider may order the following imaging studies:

- Abdominal x ray. An x ray is a picture recorded on film or a computer that a technician takes using low-level radiation. The amount of radiation used is small. An x-ray technician takes the x ray at a hospital or an outpatient center, and a radiologista doctor who specializes in medical imaginginterprets the images. A person does not need anesthesia. The person will lie on a table or stand during the x ray. The technician positions the x-ray machine over the abdominal area. The person will hold his or her breath as the technician takes the picture so that the picture will not be blurry. The technician may ask the person to change position for additional pictures. An x ray of the abdominal area will show whether symptoms are due to an intestinal blockage.  - Upper GI series. A health care provider may order an upper GI series to look at the small intestine. An x-ray technician performs the test at a hospital or an outpatient center, and a radiologist interprets the images; the health care provider may give infants and children anesthesia. A person should not eat or drink for 8 hours before the procedure, if possible. During the procedure, the person will stand or sit in front of an x-ray machine and drink barium, a chalky liquid. Infants lie on a table and the technician will give them barium through a tiny tube placed in the nose that runs into the stomach. Barium coats the lining of the small intestine, making signs of obstruction show up more clearly on x rays.  A person may experience bloating and nausea for a short time after the test. Barium liquid in the GI tract causes stools to be white or light colored for several days or longer in people with intestinal pseudo-obstruction. A health care provider will give the person specific instructions about eating and drinking after the test.  - Lower GI series. A health care provider may order a lower GI series, an x-ray exam to look at the large intestine. An x-ray technician performs the test at a hospital or an outpatient center, and a radiologist interprets the images. A person does not need anesthesia. The health care provider may provide written bowel prep instructions to follow at home before the test. The health care provider may ask the person to follow a clear liquid diet for 1 to 3 days before the procedure. A person may need to use a laxative or an enema before the test. A laxative is medication that loosens stool and increases bowel movements. An enema involves flushing water or laxative into the anus using a special squirt bottle.  For the test, the person will lie on a table while the health care provider inserts a flexible tube into the persons anus. The health care provider will fill the large intestine with barium, making signs of underlying problems show up more clearly on x rays. The test can show problems with the large intestine that are causing the persons symptoms.  Barium liquid in the GI tract causes stools to be white or light colored for several days or longer in people with intestinal pseudo-obstruction. Enemas and repeated bowel movements may cause anal soreness. A health care provider will provide specific instructions about eating and drinking after the test.  - Computerized tomography (CT) scan. CT scans use a combination of x rays and computer technology to create images. An x-ray technician performs the test at a hospital or an outpatient center, and a radiologist interprets the images. For a CT scan, a health care provider may give the person a solution to drink and an injection of a special dye, called contrast medium. CT scans require the person to lie on a table that slides into a tunnel-shaped device where the technician takes the x rays. CT scans can show both the internal and external intestinal wall. The health care provider may give children a sedative to help them fall asleep for the test.  - Upper GI endoscopy. This procedure involves using an endoscopea small, flexible tube with a lightto see the upper GI tract, which includes the esophagus, stomach, and duodenum. A gastroenterologist performs the test at a hospital or an outpatient center. The gastroenterologist carefully feeds the endoscope down the esophagus and into the stomach and duodenum. A small camera mounted on the endoscope transmits a video image to a monitor, allowing close examination of the intestinal lining. A health care provider may give a person a liquid anesthetic to gargle or may spray anesthetic on the back of the persons throat. A health care provider will place an intravenous (IV) needle in a vein in the arm to administer sedation. Sedatives help patients stay relaxed and comfortable. This test can show blockages or other conditions in the upper small intestine. A gastroenterologist may obtain a biopsy of the lining of the small intestine during an upper GI endoscopy.

Biopsy

A gastroenterologist can obtain a biopsy of the intestinal wall during endoscopy or during surgery, if the person has surgery for intestinal pseudo-obstruction and the cause is unknown. If the health care provider needs to examine the nerves in the intestinal wall, a deeper biopsy, which a gastroenterologist can typically obtain only during surgery, is necessary.

A biopsy is a procedure that involves taking a piece of the intestinal wall tissue for examination with a microscope. A health care provider performs the biopsy in a hospital and uses light sedation and local anesthetic; the health care provider uses general anesthesia if performing the biopsy during surgery. A pathologista doctor who specializes in diagnosing diseasesexamines the intestinal tissue in a lab. Diagnosing problems in the nerve pathways of the intestinal tissue requires special techniques that are not widely available.

A health care provider can also use a biopsy obtained during endoscopy to rule out celiac disease. Celiac disease is an autoimmune disorder in which people cannot tolerate gluten because it damages the lining of their small intestine and prevents absorption of nutrients. Gluten is a protein found in wheat, rye, and barley and in products such as vitamin and nutrient supplements, lip balms, and certain medications.

Blood Tests

A blood test involves drawing blood at a health care providers office or a commercial facility and sending the sample to a lab for analysis. The blood test can show the presence of other diseases or conditions that may be causing a persons symptoms. The blood test also can show levels of essential vitamins and minerals to help detect malnutrition.

Manometry

Manometry is a test that measures muscle pressure and movements in the GI tract, such as how well the smooth muscles of the stomach and small intestine contract and relax. A gastroenterologist performs the test at a hospital or an outpatient center. While the person is under sedation, a health care provider places a thin tube, or manometry tube, into the stomach and moves it down into the small intestine. A gastroenterologist may use an endoscope to place this tube. A health care provider will move the person to a manometry room and connect the manometry tube to a computer. When the person wakes up from sedation, the computer records the pressure inside the intestine while the person is fasting and after the person has eaten a meal. Manometry can confirm the diagnosis of intestinal pseudo-obstruction and show the extent of the condition.

Gastric Emptying Tests

Gastric emptying tests can show if a disorder called gastroparesis is causing a persons symptoms. People with gastroparesis, which literally refers to a paralyzed stomach, have severely delayed gastric emptying, or the delayed movement of food from the stomach to the small intestine. Some patients with intestinal pseudo-obstruction also have gastroparesis.

Types of gastric emptying tests include the following:

- Gastric emptying scintigraphy. This test involves eating a bland mealsuch as eggs or an egg substitutethat contains a small amount of radioactive material. A specially trained technician performs the test in a radiology center or hospital, and a radiologist interprets the results; the person does not need anesthesia. An external camera scans the abdomen to show where the radioactive material is located. The radiologist is then able to measure the rate of gastric emptying at 1, 2, 3, and 4 hours after the meal. Normal values depend on the composition of the meal. With some meals, if more than 10 percent of the meal is still in the stomach at 4 hours, a health care provider confirms the diagnosis of gastroparesis. Obtaining scans for 4 hours after the meal is essential. When the technician only obtains scans 1 to 2 hours after the meal, the results are often unreliable.  - Breath test. With this test, the person eats a meal containing a small amount of nonradioactive material. Then, the health care provider takes breath samples over a period of several hours to measure the amount of nonradioactive material in the exhaled breath. The results allow the health care provider to calculate how fast the stomach is emptying.  - SmartPill. The SmartPill is a small electronic device in capsule form. The SmartPill test is available at specialized outpatient centers. The person swallows the device so that it can move through the entire digestive tract and send information to a cell-phone-sized receiver worn around the persons waist or neck. The recorded information provides details about how quickly food travels through each part of the digestive tract.


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[User] What are the symptoms of Combined malonic and methylmalonic aciduria ?

[Assistant] What are the signs and symptoms of Combined malonic and methylmalonic aciduria? The Human Phenotype Ontology provides the following list of signs and symptoms for Combined malonic and methylmalonic aciduria. 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 - Dehydration - Diarrhea - Failure to thrive - Generalized clonic seizures - Ketoacidosis - Methylmalonic aciduria - Vomiting - 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) Psoriasis ?

[Assistant] Light therapy, also called phototherapy, uses ultraviolet light to treat skin lesions. Laser therapy delivers intense, focused doses of light to specific areas of the skin to clear lesions without harming surrounding tissues.


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[User] What is (are) hereditary hemochromatosis ?

[Assistant] Hereditary hemochromatosis is a disorder that causes the body to absorb too much iron from the diet. The excess iron is stored in the body's tissues and organs, particularly the skin, heart, liver, pancreas, and joints. Because humans cannot increase the excretion of iron, excess iron can overload and eventually damage tissues and organs. For this reason, hereditary hemochromatosis is also called an iron overload disorder.  Early symptoms of hereditary hemochromatosis are nonspecific and may include fatigue, joint pain, abdominal pain, and loss of sex drive. Later signs and symptoms can include arthritis, liver disease, diabetes, heart abnormalities, and skin discoloration. The appearance and progression of symptoms can be affected by environmental and lifestyle factors such as the amount of iron in the diet, alcohol use, and infections.  Hereditary hemochromatosis is classified by type depending on the age of onset and other factors such as genetic cause and mode of inheritance. Type 1, the most common form of the disorder, and type 4 (also called ferroportin disease) begin in adulthood. Men with type 1 or type 4 hemochromatosis typically develop symptoms between the ages of 40 and 60, and women usually develop symptoms after menopause.  Type 2 hemochromatosis is a juvenile-onset disorder. Iron accumulation begins early in life, and symptoms may appear in childhood. By age 20, decreased or absent secretion of sex hormones is evident. Females usually begin menstruation in a normal manner, but menses stop after a few years. Males may experience delayed puberty or symptoms related to a shortage of sex hormones. If the disorder is untreated, heart disease becomes evident by age 30.  The onset of type 3 hemochromatosis is usually intermediate between types 1 and 2. Symptoms of type 3 hemochromatosis generally begin before age 30.


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[User] What are the symptoms of Chang Davidson Carlson syndrome ?

[Assistant] What are the signs and symptoms of Chang Davidson Carlson syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Chang Davidson Carlson 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) Abnormality of the kidney 95% Abnormality of retinal pigmentation 90% Abnormality of the genital system 90% Anterior hypopituitarism 90% Micropenis 88% Myopia 75% Astigmatism 63% Cataract 30% Glaucoma 22% Rod-cone dystrophy 8% Abnormality of the ovary 7.5% Hearing impairment 7.5% Macrocephaly 7.5% Vaginal atresia 7.5% Aganglionic megacolon 5% Asthma - Ataxia - Autosomal recessive inheritance - Biliary tract abnormality - Brachydactyly syndrome - Broad foot - Congenital primary aphakia - Decreased testicular size - Delayed speech and language development - Dental crowding - Diabetes mellitus - Foot polydactyly - Gait imbalance - Hepatic fibrosis - High palate - Hirsutism - Hypertension - Hypodontia - Hypogonadism - Intellectual disability - Left ventricular hypertrophy - Nephrogenic diabetes insipidus - Neurological speech impairment - Nystagmus - Obesity - Poor coordination - Postaxial hand polydactyly - Radial deviation of finger - Retinal degeneration - Short foot - Specific learning disability - Strabismus - Syndactyly - 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 tuberous sclerosis complex ?

[Assistant] Tuberous sclerosis complex affects about 1 in 6,000 people.


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[User] What are the symptoms of Ornithine translocase deficiency syndrome ?

[Assistant] What are the signs and symptoms of Ornithine translocase deficiency syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ornithine translocase deficiency 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) Intellectual disability 30% Chorioretinal atrophy 1% Abnormal pyramidal signs - Acute encephalopathy - Acute hepatitis - Autosomal recessive inheritance - Cerebral cortical atrophy - Clonus - Coma - Decreased liver function - Decreased nerve conduction velocity - Episodic vomiting - Failure to thrive - Generalized myoclonic seizures - Hepatomegaly - Hyperammonemia - Hyperornithinemia - Hypopigmentation of the fundus - Lethargy - Morphological abnormality of the pyramidal tract - Muscular hypotonia - Phenotypic variability - Poor coordination - Protein avoidance - Spastic paraparesis - Specific learning disability - 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 Acid Lipase Disease ?

[Assistant] Enzyme replacement therapy for both Wolman's and cholesteryl ester storage disease is currently under investigation. Certain drugs may be given to help with adrenal gland production, and children may need to be fed intravenously. Individuals with CESD may benefit from a low cholesterol diet.


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[User] What are the symptoms of Antisynthetase syndrome ?

[Assistant] What are the signs and symptoms of Antisynthetase syndrome? The signs and symptoms of antisynthetase syndrome vary but may include: Fever Loss of appetite Weight loss Muscle inflammation (myositis) Inflammation of multiple joints (polyarthritis) Interstitial lung disease (causing shortness of breath, coughing, and/or dysphagia) Mechanic's hands (thickened skin of tips and margins of the fingers) Raynaud phenomenon Some studies suggest that affected people may be at an increased risk for various types of cancer, as well. The Human Phenotype Ontology provides the following list of signs and symptoms for Antisynthetase 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) Autoimmunity 90% Chest pain 90% Muscle weakness 90% Myalgia 90% Myositis 90% Pulmonary fibrosis 90% Respiratory insufficiency 90% Restrictive lung disease 90% Abnormality of temperature regulation 50% Acrocyanosis 50% Dry skin 50% Edema 50% EMG abnormality 50% Keratoconjunctivitis sicca 50% Lack of skin elasticity 50% Muscular hypotonia 50% Xerostomia 50% Abnormality of the aortic valve 7.5% Abnormality of the myocardium 7.5% Abnormality of the voice 7.5% Chondrocalcinosis 7.5% Feeding difficulties in infancy 7.5% Joint dislocation 7.5% Neoplasm 7.5% Pruritus 7.5% Pulmonary hypertension 7.5% Recurrent respiratory infections 7.5% Skin rash 7.5% Telangiectasia of the skin 7.5% 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] Do you have information about Minerals

[Assistant] Summary : Minerals are important for your body to stay healthy. Your body uses minerals for many different jobs, including building bones, making hormones and regulating your heartbeat.     There are two kinds of minerals: macrominerals and trace minerals. Macrominerals are minerals your body needs in larger amounts. They include calcium, phosphorus, magnesium, sodium, potassium, chloride and sulfur. Your body needs just small amounts of trace minerals. These include iron, manganese, copper, iodine, zinc, cobalt, fluoride and selenium.     The best way to get the minerals your body needs is by eating a wide variety of foods. In some cases, your doctor may recommend a mineral supplement.


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[User] What is (are) Distal chromosome 18q deletion syndrome ?

[Assistant] Distal chromosome 18q deletion syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material at the end of the long arm (q) of chromosome 18. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with distal chromosome 18q deletion syndrome include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome testing of both parents can provide more information on whether or not the deletion was inherited. In most cases, parents do not have any chromosomal anomaly. However, sometimes one parent is found to have a balanced translocation, where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause any signs or symptoms, but it increases the risk for having an affected child with a chromosomal anomaly like a deletion. Treatment is based on the signs and symptoms present in each person. This page is meant to provide general information about distal 18q deletions. You can contact GARD if you have questions about a specific deletion on chromosome 18. To learn more about chromosomal anomalies please visit our GARD webpage on FAQs about Chromosome Disorders.


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[User] What is (are) Renal Tubular Acidosis ?

[Assistant]
Type 1: Classical Distal RTA

Type 1 is also called classical distal RTA. "Distal," which means distant, refers to the point in the urine-forming tube of the kidney where the defect occursrelatively distant from the point where fluid from the blood enters the tiny tube, or tubule, that collects fluid and wastes to form urine.

This disorder may be inherited as a primary disorder or may be one symptom of a disease that affects many parts of the body. Researchers have discovered abnormal genes responsible for the inherited forms of the disease. More often, however, classical distal RTA occurs as a result of systemic diseasesdiseases that affect many organ systemslike the autoimmune disorders Sjgren's syndrome and lupus, which also attack the distal tubule.

Other diseases and conditions associated with classical distal RTA include sickle cell anemia, hyperparathyroidism, hyperthyroidism, chronic active hepatitis, primary biliary cirrhosis, a hereditary form of deafness, analgesic nephropathy, rejection of a transplanted kidney, renal medullary cystic disease, obstructive uropathy, and chronic urinary tract infections. Many of these conditions cause abnormal calcium deposits to build up in the kidney and impair distal tubule function.

A major consequence of classical distal RTA is a low blood potassium level. The level drops if the kidneys excrete too much potassium into urine instead of returning it to the blood supply. Because potassium helps regulate nerve and muscle health and heart rate, low levels can cause extreme weakness, irregular heartbeat, paralysis, and even death.

Untreated classical distal RTA causes growth retardation in children and progressive kidney and bone disease in adults. Restoring normal growth and preventing kidney stones are the major goals of therapy. If acidosis is corrected with sodium bicarbonate or sodium citrate, then low blood-potassium, salt depletion, and calcium leakage into urine will be corrected. This alkali therapy also helps decrease the development of kidney stones and stabilizes kidney function so kidney failure does not progress. Infants may need potassium supplements, but older children and adults rarely do because alkali therapy prevents the kidney from excreting potassium into the urine.

Type 2: Proximal RTA

Type 2 is also called proximal RTA. The word "proximal," which means near, indicates that the defect is closer to the point where fluid and wastes from the blood enter the tubule.

This form of RTA occurs most frequently in children as part of a disorder called Fanconi's syndrome. The features of Fanconi's syndrome include the abnormal excretion of glucose, amino acids, citrate, and phosphate into the urine, as well as vitamin D deficiency and low blood-potassium.

Proximal RTA can also result from inherited disorders that disrupt the body's normal breakdown and use of nutrients. Examples include the rare disease cystinosis, in which cystine crystals are deposited in bones and other tissues; hereditary fructose intolerance; and Wilson disease.

Proximal RTA also occurs in patients treated with ifosfamide, a drug used in chemotherapy. A few older drugssuch as acetazolamide or outdated tetracyclinecan also cause proximal RTA. In adults, proximal RTA may complicate diseases like multiple myeloma, or it may occur in people who experience chronic rejection of a transplanted kidney.

When possible, identifying and correcting the underlying causes are important steps in treating the acquired forms of proximal RTA. The diagnosis is based on the chemical analysis of blood and urine samples. Children with this disorder would likely receive large doses of an oral alkali, such as sodium bicarbonate or potassium citrate, to treat acidosis and prevent bone disorders, kidney stones, and growth failure. Correcting acidosis and low potassium levels restores normal growth patterns, allowing bone to mature while preventing further renal disease. Vitamin D supplements may also be needed to help prevent bone problems.

Type 3

Type 3 is rarely used as a classification because it is now thought to be a combination of type 1 and type 2.

Type 4: Hyperkalemic RTA

Type 4 is also called hyperkalemic RTA and is caused by a generalized transport abnormality of the distal tubule. The transport of electrolytes such as sodium, chloride, and potassium that normally occurs in the distal tubule is impaired. This form is distinguished from classical distal RTA and proximal RTA because it results in high levels of potassium in the blood instead of low levels. Either low potassiumhypokalemiaor high potassiumhyperkalemiacan be a problem because potassium is important in regulating heart rate.

Type 4 RTA occurs when blood levels of the hormone aldosterone are low or when the kidneys do not respond to it. Aldosterone directs the kidneys to regulate the levels of sodium, potassium, and chloride in the blood. Type 4 RTA also occurs when the tubule transport of electrolytes such as sodium, chloride, and potassium is impaired due to an inherited disorder or the use of certain drugs.

Drugs that may cause type 4 RTA include

- diuretics used to treat congestive heart failure such as spironolactone or eplerenone  - blood pressure drugs called angiotensin-converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs)  - the antibiotic trimethoprim  - the antibiotic pentamidine, which is used to treat pneumonia  - an agent called heparin that keeps blood from clotting  - a class of painkillers called nonsteroidal anti-inflammatory drugs (NSAIDs)  - some immunosuppressive drugs used to prevent rejection

Type 4 RTA may also result from diseases that alter kidney structure and function such as diabetic nephropathy, HIV/AIDS, Addison's disease, sickle cell disease, urinary tract obstruction, lupus, amyloidosis, removal or destruction of both adrenal glands, and kidney transplant rejection.

For people who produce aldosterone but cannot use it, researchers have identified the genetic basis for their body's resistance to the hormone. To treat type 4 RTA successfully, patients may require alkaline agents to correct acidosis and medication to lower the potassium in their blood.

If treated early, most people with any type of RTA will not develop permanent kidney failure. Therefore, the goal is early recognition and adequate therapy, which will need to be maintained and monitored throughout the person's lifetime.


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[User] What is (are) VACTERL association ?

[Assistant] VACTERL association is a non-random association of birth defects that affects multiple parts of the body. The term VACTERL is an acronym with each letter representing the first letter of one of the more common findings seen in affected individuals: (V) = vertebral abnormalities; (A) = anal atresia; (C) = cardiac (heart) defects; (T) = tracheal anomalies including tracheoesophageal (TE) fistula; (E) = esophageal atresia; (R) = renal (kidney) and radial (thumb side of hand) abnormalities; and (L) = other limb abnormalities. Other features may include (less frequently) growth deficiencies and failure to thrive; facial asymmetry (hemifacial microsomia); external ear malformations; intestinal malrotation; and genital anomalies. Intelligence is usually normal. The exact cause of VACTERL association is unknown; most cases occur randomly, for no apparent reason. In rare cases, VACTERL association has occurred in more than one family member.


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[User] How many people are affected by autoimmune Addison disease ?

[Assistant] Addison disease affects approximately 11 to 14 in 100,000 people of European descent. The autoimmune form of the disorder is the most common form in developed countries, accounting for up to 90 percent of cases.


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[User] what research (or clinical trials) is being done for Kleine-Levin Syndrome ?

[Assistant] NINDS supports a broad range of clinical and basic research on diseases causing sleep disorders in an effort to clarify the mechanisms of these conditions and to develop better treatments for them.


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[User] What are the genetic changes related to PMM2-congenital disorder of glycosylation ?

[Assistant] PMM2-CDG is caused by mutations in the PMM2 gene. This gene provides instructions for making an enzyme called phosphomannomutase 2 (PMM2). The PMM2 enzyme is involved in a process called glycosylation, which attaches groups of sugar molecules (oligosaccharides) to proteins. Glycosylation modifies proteins so they can perform a wider variety of functions. Mutations in the PMM2 gene lead to the production of an abnormal PMM2 enzyme with reduced activity. Without a properly functioning PMM2 enzyme, glycosylation cannot proceed normally. As a result, incorrect oligosaccharides are produced and attached to proteins. The wide variety of signs and symptoms in PMM2-CDG are likely due to the production of abnormally glycosylated proteins in many organs and tissues.


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[User] How many people are affected by cholesteryl ester storage disease ?

[Assistant] Cholesteryl ester storage disease appears to be a rare disorder. About 50 individuals affected by this condition have been reported worldwide.


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[User] Who is at risk for Fanconi Anemia? ?

[Assistant]
Fanconi anemia (FA) occurs in all racial and ethnic groups and affects men and women equally.

In the United States, about 1 out of every 181 people is an FA carrier. This carrier rate leads to about 1 in 130,000 people being born with FA.

Two ethnic groups, Ashkenazi Jews and Afrikaners, are more likely than other groups to have FA or be FA carriers.

Ashkenazi Jews are people who are descended from the Jewish population of Eastern Europe. Afrikaners are White natives of South Africa who speak a language called Afrikaans. This ethnic group is descended from early Dutch, French, and German settlers.

In the United States, 1 out of 90 Ashkenazi Jews is an FA carrier, and 1 out of 30,000 is born with FA.

Major Risk Factors

FA is an inherited diseasethat is, it's passed from parents to children through genes. At least 13 faulty genes are associated with FA. FA occurs if both parents pass the same faulty FA gene to their child.

Children born into families with histories of FA are at risk of inheriting the disorder. Children whose mothers and fathers both have family histories of FA are at even greater risk. A family history of FA means that it's possible that a parent carries a faulty gene associated with the disorder.

Children whose parents both carry the same faulty gene are at greatest risk of inheriting FA. Even if these children aren't born with FA, they're still at risk of being FA carriers.

Children who have only one parent who carries a faulty FA gene also are at risk of being carriers. However, they're not at risk of having FA.


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[User] What are the symptoms of Saccharopinuria ?

[Assistant] What are the signs and symptoms of Saccharopinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Saccharopinuria. 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 - EEG abnormality - Histidinuria - Hyperlysinuria - Intellectual disability - Short stature - Spastic diplegia - 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 Neonatal progeroid syndrome ?

[Assistant] What causes neonatal progeroid syndrome? The exact underlying cause of neonatal progeroid syndrome is unknown. Scientists suspect that it is a genetic condition; however, a disease-causing gene has not been identified.


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[User] Is Congenital anosmia inherited ?

[Assistant] Is congenital anosmia inherited? Most cases of isolated congenital anosmia (not associated with additional symptoms) occur sporadically in people with no family history of the condition. Rarely, more than one family member may be affected. In these families, the condition appears to be inherited in an autosomal dominant manner with reduced penetrance. Congenital anosmia can also by associated with specific genetic disorders such as Kallmann syndrome and congenital insensitivity to pain. In these cases, the inheritance varies based on the associated condition. For example, Kallmann syndrome can be inherited in an autosomal dominant, autosomal recessive or X-linked recessive manner depending on the underlying genetic cause (it can be caused by mutations in several different genes). Congenital insensitivity to pain follows an autosomal recessive pattern of inheritance.


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[User] Is neonatal onset multisystem inflammatory disease 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 almost all cases, NOMID results from new mutations. These cases occur in people with no history of the disorder in their family. A few cases have been reported in which an affected person has inherited the mutation from one affected parent.


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[User] What causes Loin pain hematuria syndrome ?

[Assistant] What causes loin pain hematuria syndrome? The exact underlying cause of loin pain hematuria syndrome (LPHS) is currently unknown. However, scientists have proposed several theories. For example, some cases of LPHS may be due to abnormal glomerular basement membranes, which are the tissues in the kidney that filter blood. If these tissues are abnormal, red blood cells may be allowed to enter the urinary space, leading to both loin pain and hematuria (blood in the urine). Other factors that may lead to the signs and symptoms of LPHS include: Blood disorders, called coagulopathies, which impair the bloods ability to clot Spasms in the kidney's blood vessels which may restrict blood flow to certain tissues and lead to tissue death Up to 50% of people affected by LPHS also experience kidney stones. Some scientists, therefore, suspect that the formation of crystals and/or stones in the kidney may also contribute to the condition as they may block or injure the renal tubules (the long narrow tubes in the kidney that concentrate and transport urine).


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[User] How many people are affected by aromatase deficiency ?

[Assistant] The prevalence of aromatase deficiency is unknown; approximately 20 cases have been described in the medical literature.


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[User] How to prevent Oral Cavity and Oropharyngeal Cancer ?

[Assistant]
Key Points
                    - Avoiding risk factors and increasing protective factors may help prevent cancer.    - The following are risk factors for oral cavity cancer and oropharyngeal cancer:         - Tobacco use     - Alcohol use     - Tobacco and alcohol use     - Betel quid or gutka chewing     - Personal history of head and neck cancer        - The following is a risk factor for oropharyngeal cancer:         - HPV infection        - The following is a protective factor for oral cavity cancer and oropharyngeal cancer:         - Quitting smoking        - It is not clear whether avoiding certain risk factors will decrease the risk of oral cavity cancer or oropharyngeal cancer.    - Cancer prevention clinical trials are used to study ways to prevent cancer.    -  New ways to prevent oral cavity cancer and oropharyngeal cancer are being studied in clinical trials.

                    Avoiding risk factors and increasing protective factors may help prevent cancer.
                    Avoiding cancer risk factors may help prevent certain cancers. Risk factors include smoking, being overweight, and not getting enough exercise. Increasing protective factors such as quitting smoking and exercising may also help prevent some cancers. Talk to your doctor or other health care professional about how you might lower your risk of cancer.    Oral cavity cancer and oropharyngeal cancer are two different diseases, but they have some risk factors in common.

                    The following are risk factors for oral cavity cancer and oropharyngeal cancer:
                    Tobacco use    Using tobacco is the most common cause of oral cavity cancer and oropharyngeal cancer. The risk of these cancers is about 5 to 10 times higher for current smokers than for people who have never smoked.    The use of all types of tobacco, including cigarettes, pipes, cigars, and smokeless tobacco (snuff and chewing tobacco) can cause cancer of the oral cavity and oropharynx. For cigarette smokers, the risk of oral cavity cancer and oropharyngeal cancer increases with the number of cigarettes smoked per day.       Alcohol use    Using alcohol is also an important risk factor for oral cavity cancer and oropharyngeal cancer.    The risk of oral cavity cancer and oropharyngeal cancer increases with the number of alcoholic drinks consumed per day. The risk of oral cavity cancer and oropharyngeal cancer is about twice as high in people who have 3 to 4 alcoholic drinks per day and 5 times higher in people who have 5 or more alcoholic drinks per day compared with those who don't drink alcohol.       Tobacco and alcohol use    The risk of oral cavity cancer and oropharyngeal cancer is 2 to 3 times higher in people who use both tobacco and alcohol than it is in people who use only tobacco or only alcohol. The risk of oral cavity cancer and oropharyngeal cancer is about 35 times higher in people who smoke 2 or more packs of cigarettes per day and have more than 4 alcoholic drinks per day than it is in people who have never smoked cigarettes or consumed alcohol.        Betel quid or gutka chewing    Chewing betel quid or gutka (betel quid mixed with tobacco) has been shown to increase the risk of oral cavity cancer and oropharyngeal cancer. Betel quid contains areca nut, which is a cancer-causing substance. The risk of oral cavity cancer and oropharyngeal cancer increases with how long and how often betel quid or gutka are chewed. The risk for oral cavity cancer and oropharyngeal cancer is higher when chewing gutka than when chewing betel quid alone. Betel quid and gutka chewing is common in many countries in South Asia and Southeast Asia, including China and India.        Personal history of head and neck cancer    A personal history of head and neck cancer increases the risk of oral cavity cancer and oropharyngeal cancer.

                    The following is a risk factor for oropharyngeal cancer:
                    HPV infection    Being infected with certain types of HPV, especially HPV type 16, increases the risk of oropharyngeal cancer. HPV infection is spread mainly through sexual contact.     The risk of oropharyngeal cancer is about 15 times higher in people who have oral HPV 16 infection compared with people who do not have oral HPV 16 infection.

                    The following is a protective factor for oral cavity cancer and oropharyngeal cancer:
                    Quitting smoking    Studies have shown that when people stop smoking cigarettes, their risk of oral cavity cancer and oropharyngeal cancer decreases by one half (50%) within 5 years. Within 20 years of quitting, their risk of oral cavity cancer and oropharyngeal cancer is the same as for a person who never smoked cigarettes.

                    It is not clear whether avoiding certain risk factors will decrease the risk of oral cavity cancer or oropharyngeal cancer.
                    It has not been proven that stopping alcohol use will decrease the risk of oral cavity cancer or oropharyngeal cancer.    Getting an HPV vaccination greatly lessens the risk of oral HPV infection. It is not yet known whether getting an HPV vaccination at any age will decrease the risk of oropharyngeal cancer from HPV infection.

                    Cancer prevention clinical trials are used to study ways to prevent cancer.
                    Cancer prevention clinical trials are used to study ways to lower the risk of certain types of cancer. Some cancer prevention trials are done with healthy people who have not had cancer but who have an increased risk for cancer. Other prevention trials are done with people who have had cancer and are trying to prevent another cancer of the same type or to lower their chance of developing a new type of cancer. Other trials are done with healthy volunteers who are not known to have any risk factors for cancer.    The purpose of some cancer prevention clinical trials is to find out whether actions people take can prevent cancer. These may include eating fruits and vegetables, exercising, quitting smoking, or taking certain medicines, vitamins, minerals, or food supplements.

                    New ways to prevent oral cavity cancer and oropharyngeal cancer are being studied in clinical trials.
                    Clinical trials are taking place in many parts of the country. Information about clinical trials can be found in the Clinical Trials section of the NCI website. Check NCI's list of cancer clinical trials for oral cavity cancer prevention trials and oropharyngeal cancer prevention trials that are now accepting patients.


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[User] What are the symptoms of Chondrodysplasia acromesomelic with genital anomalies ?

[Assistant] What are the signs and symptoms of Chondrodysplasia acromesomelic with genital anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrodysplasia acromesomelic with genital anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia of the proximal phalanges of the hand - Aplasia/Hypoplasia involving the metacarpal bones - Autosomal recessive inheritance - Broad foot - Carpal synostosis - Disproportionate short-limb short stature - Fibular aplasia - Hypergonadotropic hypogonadism - Hypoplasia of the ulna - Hypoplasia of the uterus - Primary amenorrhea - Radial deviation of finger - Short femoral neck - Short finger - Short phalanx of finger - Short toe - Talipes equinovarus - Tarsal synostosis - Widened proximal tibial metaphyses - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] Is Hereditary lymphedema type II inherited ?

[Assistant] How is hereditary lymphedema type II inherited? Hereditary lymphedema type II appears to have an autosomal dominant pattern of inheritance, which means that one copy of an altered gene in each cell is sufficient to cause the disorder. People with hereditary lymphedema type II usually have at least one other affected family member, in most cases, a parent. When the condition occurs in only one person in a family, the condition is described as Meige-like lymphedema.


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[User] What is (are) McCune-Albright syndrome ?

[Assistant] McCune-Albright syndrome is a disorder that affects the bones, skin, and several hormone-producing (endocrine) tissues.  People with McCune-Albright syndrome develop areas of abnormal scar-like (fibrous) tissue in their bones, a condition called polyostotic fibrous dysplasia. Polyostotic means the abnormal areas (lesions) may occur in many bones; often they are confined to one side of the body. Replacement of bone with fibrous tissue may lead to fractures, uneven growth, and deformity. When lesions occur in the bones of the skull and jaw it can result in uneven (asymmetric) growth of the face. Asymmetry may also occur in the long bones; uneven growth of leg bones may cause limping. Abnormal curvature of the spine (scoliosis) may also occur. Bone lesions may become cancerous, but this happens in fewer than 1 percent of people with McCune-Albright syndrome.  In addition to bone abnormalities, affected individuals usually have light brown patches of skin called caf-au-lait spots, which may be present from birth. The irregular borders of the caf-au-lait spots in McCune-Albright syndrome are often compared to a map of the coast of Maine. By contrast, caf-au-lait spots in other disorders have smooth borders, which are compared to the coast of California. Like the bone lesions, the caf-au-lait spots in McCune-Albright syndrome often appear on only one side of the body.  Girls with McCune-Albright syndrome usually reach puberty early. These girls usually have menstrual bleeding by age two, many years before secondary sex characteristics such as breast enlargement and pubic hair are evident. This early onset of menstruation is believed to be caused by excess estrogen, a female sex hormone, produced by cysts that develop in one of the ovaries. Less commonly, boys with McCune-Albright syndrome may also experience early puberty.  Other endocrine problems may also occur in people with McCune-Albright syndrome. The thyroid gland, a butterfly-shaped organ at the base of the neck, may become enlarged (a condition called a goiter) or develop masses called nodules. About 50 percent of affected individuals produce excessive amounts of thyroid hormone (hyperthyroidism), resulting in a fast heart rate, high blood pressure, weight loss, tremors, sweating, and other symptoms. The pituitary gland (a structure at the base of the brain that makes several hormones) may produce too much growth hormone. Excess growth hormone can result in acromegaly, a condition characterized by large hands and feet, arthritis, and distinctive facial features that are often described as "coarse." Rarely, affected individuals develop Cushing's syndrome, an excess of the hormone cortisol produced by the adrenal glands, which are small glands located on top of each kidney. Cushing's syndrome causes weight gain in the face and upper body, slowed growth in children, fragile skin, fatigue, and other health problems.


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[User] What are the symptoms of Familial hemiplegic migraine ?

[Assistant] What are the signs and symptoms of Familial hemiplegic migraine? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hemiplegic migraine. 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 movement 90% Hemiplegia/hemiparesis 90% Incoordination 50% Nystagmus 50% Abnormality of retinal pigmentation 7.5% EEG abnormality 7.5% Neurological speech impairment 7.5% Sensorineural hearing impairment 7.5% 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) Kidney Stones in Adults ?

[Assistant]
Four major types of kidney stones can form:

- Calcium stones are the most common type of kidney stone and occur in two major forms: calcium oxalate and calcium phosphate. Calcium oxalate stones are more common. Calcium oxalate stone formation may be caused by high calcium and high oxalate excretion. Calcium phosphate stones are caused by the combination of high urine calcium and alkaline urine, meaning the urine has a high pH.  - Uric acid stones form when the urine is persistently acidic. A diet rich in purinessubstances found in animal protein such as meats, fish, and shellfishmay increase uric acid in urine. If uric acid becomes concentrated in the urine, it can settle and form a stone by itself or along with calcium.  - Struvite stones result from kidney infections. Eliminating infected stones from the urinary tract and staying infection-free can prevent more struvite stones.  - Cystine stones result from a genetic disorder that causes cystine to leak through the kidneys and into the urine, forming crystals that tend to accumulate into stones.


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[User] What are the complications of Acquired Cystic Kidney Disease ?

[Assistant]
People with acquired cystic kidney disease may develop the following complications:

- an infected cyst, which can cause fever and back pain.  - blood in the urine, which can signal that a cyst in the kidney is bleeding.  - tumors in the kidneys. People with acquired cystic kidney disease are more likely than people in the general population to have cancerous kidney tumors. However, the chance of cancer spreading is lower in people with acquired cystic kidney disease than that of other kidney cancers not associated with acquired cystic kidney disease, and the long-term outlook is better.1


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[User] What is (are) Restless Legs Syndrome ?

[Assistant]
Restless legs syndrome (RLS) is a disorder that causes a strong urge to move your legs. This urge to move often occurs with strange and unpleasant feelings in your legs. Moving your legs relieves the urge and the unpleasant feelings.

People who have RLS describe the unpleasant feelings as creeping, crawling, pulling, itching, tingling, burning, aching, or electric shocks. Sometimes, these feelings also occur in the arms.

The urge to move and unpleasant feelings happen when you're resting and inactive. Thus, they tend to be worse in the evening and at night.

Overview

RLS can make it hard to fall asleep and stay asleep. It may make you feel tired and sleepy during the day. This can make it hard to learn, work, and do other daily activities. Not getting enough sleep also can cause depression, mood swings, or other health problems.

RLS can range from mild to severe based on:

The strength of your symptoms and how often they occur

How easily moving around relieves your symptoms

How much your symptoms disturb your sleep

One type of RLS usually starts early in life (before 45 years of age) and tends to run in families. It may even start in childhood. Once this type of RLS starts, it usually lasts for the rest of your life. Over time, symptoms slowly get worse and occur more often. If you have a mild case, you may have long periods with no symptoms.

Another type of RLS usually starts later in life (after 45 years of age). It generally doesn't run in families. This type of RLS tends to have a more abrupt onset. The symptoms usually don't get worse over time.

Some diseases, conditions, and medicines may trigger RLS. For example, the disorder has been linked to kidney failure, Parkinson's disease, diabetes, rheumatoid arthritis, pregnancy, and iron deficiency. When a disease, condition, or medicine causes RLS, the symptoms usually start suddenly.

Medical conditions or medicines often cause or worsen the type of RLS that starts later in life.

Outlook

RLS symptoms often get worse over time. However, some people's symptoms go away for weeks to months.

If a medical condition or medicine triggers RLS, the disorder may go away if the trigger is relieved or stopped. For example, RLS that occurs due to pregnancy tends to go away after giving birth. Kidney transplants (but not dialysis) relieve RLS linked to kidney failure.

Treatments for RLS include lifestyle changes and medicines. Some simple lifestyle changes often help relieve mild cases of RLS. Medicines often can relieve or prevent the symptoms of more severe RLS.

Research is ongoing to better understand the causes of RLS and to find better treatments.


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[User] How many people are affected by Hermansky-Pudlak syndrome ?

[Assistant] Hermansky-Pudlak syndrome is a rare disorder in most populations and is estimated to affect 1 in 500,000 to 1,000,000 individuals worldwide. Type 1 is more common in Puerto Rico, particularly in the northwestern part of the island where about 1 in 1,800 people are affected. Type 3 is common in people from central Puerto Rico. Groups of affected individuals have been identified in many other regions, including India, Japan, the United Kingdom, and Western Europe.


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[User] What are the symptoms of Metachromatic leukodystrophy ?

[Assistant] What are the signs and symptoms of Metachromatic leukodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Metachromatic leukodystrophy. 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) Behavioral abnormality 90% Cognitive impairment 90% Decreased nerve conduction velocity 90% Developmental regression 90% Gait disturbance 90% Genu recurvatum 90% Incoordination 90% Muscle weakness 90% Neurological speech impairment 90% Peripheral neuropathy 90% Reduced consciousness/confusion 90% Seizures 90% Amaurosis fugax 50% Hyperreflexia 50% Hypertonia 50% Limitation of joint mobility 50% Muscular hypotonia 50% Nystagmus 50% Optic atrophy 50% Aganglionic megacolon 7.5% Ataxia - Autosomal recessive inheritance - Babinski sign - Bulbar palsy - Cholecystitis - Chorea - Delusions - Dysarthria - Dystonia - EMG: neuropathic changes - Emotional lability - Gallbladder dysfunction - Hallucinations - Hyporeflexia - Increased CSF protein - Intellectual disability - Loss of speech - Mental deterioration - Peripheral demyelination - Progressive peripheral neuropathy - Spastic tetraplegia - Tetraplegia - Urinary incontinence - 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 Multicentric Castleman Disease ?

[Assistant] How might multicentric Castleman disease be treated? The treatment of multicentric Castleman disease (MCD) varies based on the severity of the condition and whether or not the patient has an HIV and/or human herpes virus type 8 (HHV-8) infection. Possible treatment options include: Immunotherapy can be used to block the action of the interleukin-6 (IL-6), a protein that is produced in excess by the immune system of people with MCD Chemotherapy may be recommended to slow the growth of lymphatic cells Corticosteroid medications can reduce inflammation Anti-viral drugs can block the activity of HHV-8 or HIV (in people who are infected by these viruses)


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[User] What causes Nerve Disease and Bladder Control ?

[Assistant]
Nerves that work poorly can lead to three different kinds of bladder control problems.

Overactive bladder. Damaged nerves may send signals to the bladder at the wrong time, causing its muscles to squeeze without warning. The symptoms of overactive bladder include

- urinary frequencydefined as urination eight or more times a day or two or more times at night  - urinary urgencythe sudden, strong need to urinate immediately  - urge incontinenceleakage of urine that follows a sudden, strong urge to urinate

Poor control of sphincter muscles. Sphincter muscles surround the urethra and keep it closed to hold urine in the bladder. If the nerves to the sphincter muscles are damaged, the muscles may become loose and allow leakage or stay tight when you are trying to release urine.

Urine retention. For some people, nerve damage means their bladder muscles do not get the message that it is time to release urine or are too weak to completely empty the bladder. If the bladder becomes too full, urine may back up and the increasing pressure may damage the kidneys. Or urine that stays too long may lead to an infection in the kidneys or bladder. Urine retention may also lead to overflow incontinence.


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[User] What is the outlook for Dystonias ?

[Assistant] The initial symptoms can be very mild and may be noticeable only after prolonged exertion, stress, or fatigue. Dystonias often progress through various stages. Initially, dystonic movements are intermittent and appear only during voluntary movements or stress. Later, individuals may show dystonic postures and movements while walking and ultimately even while they are relaxed. Dystonic motions may lead to permanent physical deformities by causing tendons to shorten.


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[User] Is Kearns-Sayre syndrome inherited ?

[Assistant] This condition is generally not inherited but arises from mutations in the body's cells that occur after conception. This alteration is called a somatic mutation and is present only in certain cells.  Rarely, this condition is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with changes in mtDNA to their children.


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[User] What are the genetic changes related to Sjgren-Larsson syndrome ?

[Assistant] Mutations in the ALDH3A2 gene cause Sjgren-Larsson syndrome. The ALDH3A2 gene provides instructions for making an enzyme called fatty aldehyde dehydrogenase (FALDH). The FALDH enzyme is part of a multistep process called fatty acid oxidation in which fats are broken down and converted into energy. Specifically, the FALDH enzyme breaks down molecules called fatty aldehydes to fatty acids.  ALDH3A2 gene mutations disrupt the normal process of fatty acid oxidation. Most mutations result in the production of a FALDH enzyme that is unable to break down fatty aldehyde molecules. As a result, fats that cannot be broken down build up in cells. Within skin cells, excess fat accumulation can interfere with the formation of membranes that act as protective barriers to control water loss. As a result of the loss of these protective barriers, the skin has difficulty maintaining its water balance, resulting in dry, scaly skin. In the brain, the consequences of excess fat accumulation are unclear, but it is likely that an abundance of fat disrupts the formation of myelin. Myelin is the covering that protects nerves and promotes the efficient transmission of nerve impulses. A lack of myelin can lead to neurological problems such as intellectual disability and walking difficulties. The cause of the eye problems is unclear, but it is also likely related to a disruption in the breakdown of fats.


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[User] How to prevent What I need to know about Gestational Diabetes ?

[Assistant]
You can do a lot to prevent or delay type 2 diabetes by making these lifestyle changes:

- Reach and stay at a healthy weight. Try to reach your prepregnancy weight 6 to 12 months after your baby is born. Then, if you still weigh too much, work to lose at least 5 to 7 percent of your body weight and keep it off. For example, if you weigh 200 pounds, losing 10 to 14 pounds can greatly reduce your chance of getting diabetes.  - Be physically active for at least 30 minutes most days of the week.  - Follow a healthy eating plan. Eat more grains, fruits, and vegetables. Cut down on fat and calories. Your health care team can help you design a meal plan.  - Ask your doctor if you should take the diabetes medicine metformin. Metformin can lower your chances of having type 2 diabetes, especially if you are younger and heavier and have prediabetes or if you have had gestational diabetes.

These changes can help you enjoy a longer, healthier life. Your health care team can give you information and support to help you make these changes.

By delaying or preventing type 2 diabetes, you will also lower your chances of having heart and blood vessel disease and other problems as you get older.

Talk with your doctor if you are thinking about having another baby. For the safety of your baby, your blood glucose needs to be at healthy levels before you get pregnant again. Your doctor can help ensure you are ready for your next child.


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[User] What is (are) Pericardial Disorders ?

[Assistant] The pericardium is a membrane, or sac, that surrounds your heart. It holds the heart in place and helps it work properly. Problems with the pericardium include       - Pericarditis - an inflammation of the sac. It can be from a virus or other infection, a heart attack, heart surgery, other medical conditions, injuries, and certain medicines.    - Pericardial effusion - the buildup of fluid in the sac    - Cardiac tamponade - a serious problem in which buildup of fluid in the sac causes problems with the function of the heart       Symptoms of pericardial problems include chest pain, rapid heartbeat, and difficulty breathing. Fever is a common symptom of acute pericarditis. Your doctor may use a physical exam, imaging tests, and heart tests to make a diagnosis. Treatment depends on the cause.    NIH: National Heart, Lung, and Blood Institute


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[User] How to prevent Heart Failure ?

[Assistant] Ways to prevent heart failure include - keeping your cholesterol and blood pressure levels healthy  - keeping diabetes in check   - maintaining a healthy weight   - quitting smoking   - following a heart healthy diet  - limiting the amount of alcohol you drink   - eating a diet low in salt because salt can cause extra fluid to build up in your body and also contribute to high blood pressure. Older adults should limit their sodium (salt) intake to1500 mg a day (about 2/3 tsp of salt).   - getting regular exercise. Aim for at least 30 minutes a day of exercise. Check with your doctor before starting any exercise program. For information about exercises that older adults can do safely, see Exercises to Try or visit Go4Life, the exercise and physical activity campaign for older adults from the National Institute on Aging.  keeping your cholesterol and blood pressure levels healthy keeping diabetes in check maintaining a healthy weight quitting smoking following a heart healthy diet limiting the amount of alcohol you drink eating a diet low in salt because salt can cause extra fluid to build up in your body and also contribute to high blood pressure. Older adults should limit their sodium (salt) intake to1500 mg a day (about 2/3 tsp of salt). getting regular exercise. Aim for at least 30 minutes a day of exercise. Check with your doctor before starting any exercise program. For information about exercises that older adults can do safely, see Exercises to Try or visit Go4Life, the exercise and physical activity campaign for older adults from the National Institute on Aging.


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[User] What are the symptoms of Reardon Wilson Cavanagh syndrome ?

[Assistant] What are the signs and symptoms of Reardon Wilson Cavanagh syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Reardon Wilson Cavanagh 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) Cognitive impairment 90% Incoordination 90% Nystagmus 90% Sensorineural hearing impairment 90% Strabismus 90% Abnormality of the palate 50% Aplasia/Hypoplasia of the cerebellum 50% Cerebral cortical atrophy 50% Decreased nerve conduction velocity 50% EMG abnormality 50% Muscular hypotonia 50% Neurological speech impairment 50% Scoliosis 50% Skeletal muscle atrophy 50% Ventriculomegaly 50% Joint hypermobility 7.5% Ataxia - Autosomal recessive inheritance - Intellectual disability - Progressive sensorineural hearing impairment - 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 Y chromosome infertility ?

[Assistant] As its name suggests, this form of infertility is caused by changes in the Y chromosome. People normally have 46 chromosomes in each cell. Two of the 46 chromosomes are sex chromosomes, called X and Y. Females have two X chromosomes (46,XX), and males have one X chromosome and one Y chromosome (46,XY). Because only males have the Y chromosome, the genes on this chromosome tend to be involved in male sex determination and development.  Y chromosome infertility is usually caused by deletions of genetic material in regions of the Y chromosome called azoospermia factor (AZF) A, B, or C. Genes in these regions are believed to provide instructions for making proteins involved in sperm cell development, although the specific functions of these proteins are not well understood.  Deletions in the AZF regions may affect several genes. The missing genetic material likely prevents production of a number of proteins needed for normal sperm cell development, resulting in Y chromosome infertility.  In rare cases, changes to a single gene called USP9Y, which is located in the AZFA region of the Y chromosome, can cause Y chromosome infertility. The USP9Y gene provides instructions for making a protein called ubiquitin-specific protease 9. A small number of individuals with Y chromosome infertility have deletions of all or part of the USP9Y gene, while other genes in the AZF regions are unaffected. Deletions in the USP9Y gene prevent the production of ubiquitin-specific protease 9 or result in the production of an abnormally short, nonfunctional protein. The absence of functional ubiquitin-specific protease 9 impairs the production of sperm cells, resulting in Y chromosome infertility.


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[User] What causes Partington syndrome ?

[Assistant] What causes Partington syndrome? Partington syndrome is caused by changes (mutations) in the ARX gene, which encodes a protein that regulates the activity of other genes. This protein is particularly important in the developing brain where it plays many roles (i.e. assisting with the movement and communication of neurons). Specific changes in the ARX gene impair the function of the protein, which may disrupt normal neuronal migration. This can lead to the many signs and symptoms associated with Partington syndrome.


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[User] What are the symptoms of Hypoparathyroidism-retardation-dysmorphism syndrome ?

[Assistant] What are the signs and symptoms of Hypoparathyroidism-retardation-dysmorphism syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypoparathyroidism-retardation-dysmorphism 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) Cognitive impairment 90% Convex nasal ridge 90% Deeply set eye 90% Delayed skeletal maturation 90% Depressed nasal bridge 90% External ear malformation 90% Frontal bossing 90% High forehead 90% Hyperphosphatemia 90% Hypocalcemia 90% Hypoparathyroidism 90% Intrauterine growth retardation 90% Long philtrum 90% Low-set, posteriorly rotated ears 90% Microcephaly 90% Seizures 90% Short foot 90% Short palm 90% Short stature 90% Thin vermilion border 90% Abnormality of dental enamel 50% Recurrent respiratory infections 50% Aplasia/Hypoplasia affecting the eye 7.5% Astigmatism 7.5% Cellular immunodeficiency 7.5% Cryptorchidism 7.5% Hypoplasia of penis 7.5% Increased bone mineral density 7.5% Intestinal obstruction 7.5% Myopathy 7.5% Opacification of the corneal stroma 7.5% Spinal canal stenosis 7.5% Ventriculomegaly 7.5% Autosomal recessive inheritance - Bifid uvula - Congenital hypoparathyroidism - Hypocalcemic seizures - Intellectual disability - Low-set ears - Micropenis - Patchy osteosclerosis - Posteriorly rotated ears - Postnatal growth retardation - Prominent forehead - Recurrent bacterial infections - Severe intrauterine growth retardation - Small hand - Tetany - 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] Do you have information about Cervical Cancer Screening

[Assistant] Summary : The cervix is the lower part of the uterus, the place where a baby grows during pregnancy. Cancer screening is looking for cancer before you have any symptoms. Cancer found early may be easier to treat.    Cervical cancer screening is usually part of a woman's health checkup. There are two types of tests: the Pap test and the HPV test. For both, the doctor or nurse collects cells from the surface of the cervix. With the Pap test, the lab checks the sample for cancer cells or abnormal cells that could become cancer later. With the HPV test, the lab checks for HPV infection. HPV is a virus that spreads through sexual contact. It can sometimes lead to cancer. If your screening tests are abnormal, your doctor may do more tests, such as a biopsy.    Cervical cancer screening has risks. The results can sometimes be wrong, and you may have unnecessary follow-up tests. There are also benefits. Screening has been shown to decrease the number of deaths from cervical cancer. You and your doctor should discuss your risk for cervical cancer, the pros and cons of the screening tests, at what age to start being screened, and how often to be screened.


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[User] What is (are) Dumping Syndrome ?

[Assistant]
The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anusthe opening where stool leaves the body. The body digests food using the movement of muscles in the GI tract, along with the release of hormones and enzymes. The upper GI tract includes the mouth, esophagus, stomach, duodenum, and small intestine. The esophagus carries food and liquids from the mouth to the stomach. The stomach slowly pumps the food and liquids into the intestine, which then absorbs needed nutrients. Two digestive organs, the liver and the pancreas, produce digestive juices that reach the small intestine through small tubes called ducts.

The last part of the GI tractcalled the lower GI tractconsists of the large intestine and anus. The large intestine is about 5 feet long in adults and absorbs water and any remaining nutrients from partially digested food passed from the small intestine. The large intestine then changes waste from liquid to a solid matter called stool. Stool passes from the colon to the rectum. The rectum is located between the last part of the coloncalled the sigmoid colonand the anus. The rectum stores stool prior to a bowel movement. During a bowel movement, stool moves from the rectum to the anus.


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[User] What is (are) Medicare and Continuing Care ?

[Assistant] Medicare Part D helps pay for medications that a doctor may prescribe. This coverage may help lower prescription drug costs. Medicare drug plans are run by insurance companies and other private companies approved by Medicare. A person who joins Original Medicare and who wants prescription drug coverage will need to choose and sign up for a Medicare Prescription Drug plan (PDP). A person who joins one of the Medicare Advantage Plans will automatically receive prescription drug coverage through that plan if it's offered, usually for an extra cost. For more information about Medicare Part D, visit http://www.medicare.gov to get free copies of "Your Guide to Medicare Prescription Drug Coverage" and "Compare Medicare Prescription Drug Plans." (Under "Search Tools," select "Find a Medicare Publication.") You may also call 1-800-Medicare (1-800-633-4227). TTY users should call 1-877-486-2048.


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[User] What are the genetic changes related to Jackson-Weiss syndrome ?

[Assistant] Mutations in the FGFR2 gene cause Jackson-Weiss syndrome. This gene provides instructions for making a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development. A mutation in a specific part of the FGFR2 gene overstimulates signaling by the FGFR2 protein, which promotes the premature fusion of skull bones and affects the development of bones in the feet.


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[User] How many people are affected by juvenile myoclonic epilepsy ?

[Assistant] Juvenile myoclonic epilepsy affects an estimated 1 in 1,000 people worldwide. Approximately 5 percent of people with epilepsy have juvenile myoclonic epilepsy.


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[User] What causes Acute febrile neutrophilic dermatosis ?

[Assistant] What causes acute febrile neutrophilic dermatosis? In many cases, the cause of acute febrile neutrophilic dermatosis is unknown (idiopathic). But sometimes, it can be a sign of an immune system response to one of the following: An upper respiratory tract infection, such as a chest infection or strep throat Blood disorders, especially acute myelogenous leukemia, a cancer of the blood and bone marrow Inflammatory bowel disease, such as ulcerative colitis or Crohn's disease Bowel or breast cancer Pregnancy Rheumatoid arthritis An injury at the site where the rash appears, such as an insect bite or needle prick Certain medications, including nonsteroidal anti-inflammatory drugs (NSAIDs)


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[User] What are the treatments for Ehlers-Danlos syndrome ?

[Assistant] These resources address the diagnosis or management of Ehlers-Danlos syndrome:  - Gene Review: Gene Review: Ehlers-Danlos Syndrome, Classic Type  - Gene Review: Gene Review: Ehlers-Danlos Syndrome, Hypermobility Type  - Gene Review: Gene Review: Ehlers-Danlos Syndrome, Kyphoscoliotic Form  - Gene Review: Gene Review: Vascular Ehlers-Danlos Syndrome  - Genetic Testing Registry: Ehlers-Danlos syndrome  - Genetic Testing Registry: Ehlers-Danlos syndrome, musculocontractural type 2  - Genetic Testing Registry: Ehlers-Danlos syndrome, progeroid type, 2  - Genetic Testing Registry: Ehlers-Danlos syndrome, type 7A  - MedlinePlus Encyclopedia: Ehlers-Danlos Syndrome   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 is (are) Familial Periodic Paralyses ?

[Assistant]
Familial periodic paralyses are a group of inherited neurological disorders caused by mutations in genes that regulate sodium and calcium channels in nerve cells. They are characterized by episodes in which the affected muscles become slack, weak, and unable to contract. Between attacks, the affected muscles usually work as normal.

The two most common types of periodic paralyses are: Hypokalemic periodic paralysis is characterized by a fall in potassium levels in the blood. In individuals with this mutation attacks often begin in adolescence and are triggered by strenuous exercise, high carbohydrate meals, or by injection of insulin, glucose, or epinephrine. Weakness may be mild and limited to certain muscle groups, or more severe and affect the arms and legs. Attacks may last for a few hours or persist for several days. Some patients may develop chronic muscle weakness later in life. Hyperkalemic periodic paralysis is characterized by a rise in potassium levels in the blood. Attacks often begin in infancy or early childhood and are precipitated by rest after exercise or by fasting. Attacks are usually shorter, more frequent, and less severe than the hypokalemic form. Muscle spasms are common.


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[User] How many people are affected by gray platelet syndrome ?

[Assistant] Gray platelet syndrome appears to be a rare disorder. About 60 cases have been reported worldwide.


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[User] What are the genetic changes related to spinocerebellar ataxia type 2 ?

[Assistant] Mutations in the ATXN2 gene cause SCA2. The ATXN2 gene provides instructions for making a protein called ataxin-2. This protein is found throughout the body, but its function is unknown. Ataxin-2 is found in the fluid inside cells (cytoplasm), where it appears to interact with a cell structure called the endoplasmic reticulum. The endoplasmic reticulum is involved in protein production, processing, and transport. Researchers believe that ataxin-2 may be involved in processing RNA, a chemical cousin of DNA. Ataxin-2 is also thought to play a role in the production of proteins from RNA (translation of DNA's genetic information).  The ATXN2 gene mutations that cause SCA2 involve a DNA segment known as a CAG trinucleotide repeat. This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. Normally, the CAG segment is repeated approximately 22 times within the gene, but it can be repeated up to 31 times without causing any health problems. Individuals with 32 or more CAG repeats in the ATXN2 gene develop SCA2. People with 32 or 33 repeats tend to first experience signs and symptoms of SCA2 in late adulthood, while people with more than 45 repeats usually have signs and symptoms by their teens.  It is unclear how the abnormally long CAG segment affects the function of the ataxin-2 protein. The abnormal protein apparently leads to cell death, as people with SCA2 show loss of brain cells in different parts of the brain. Over time, the loss of brain cells causes the movement problems characteristic of SCA2.


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[User] What are the symptoms of Cone-rod dystrophy amelogenesis imperfecta ?

[Assistant] What are the signs and symptoms of Cone-rod dystrophy amelogenesis imperfecta? The Human Phenotype Ontology provides the following list of signs and symptoms for Cone-rod dystrophy amelogenesis 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) Abnormality of color vision 90% Abnormality of dental color 90% Abnormality of dental enamel 90% Abnormality of retinal pigmentation 90% Nystagmus 90% Photophobia 90% Visual impairment 90% Optic atrophy 50% Amelogenesis imperfecta - Autosomal recessive inheritance - Carious teeth - Cone/cone-rod dystrophy - Monochromacy - Nyctalopia - Optic disc pallor - 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 Kallmann syndrome inherited ?

[Assistant] Kallmann syndrome 1 (caused by ANOS1 gene mutations) has an X-linked recessive pattern of inheritance. The ANOS1 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 must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.  Most cases of Kallmann syndrome 1 are described as simplex, which means only one person in a family is affected. Some affected people inherit a ANOS1 gene mutation from their mothers, who carry a single mutated copy of the gene in each cell. Other people have the condition as a result of a new mutation in the ANOS1 gene.  Other forms of Kallmann syndrome can be 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 result from new mutations in the gene and occur in people with no history of the disorder in their family.  In several families, Kallmann syndrome has shown an autosomal recessive pattern of inheritance. Autosomal recessive inheritance 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] how can botulism be prevented?

[Assistant] Many cases of botulism are preventable. Foodborne botulism has often been from home-canned foods with low acid content, such as asparagus, green beans, beets and corn and is caused by failure to follow proper canning methods. However, seemingly unlikely or unusual sources are found every decade, with the common problem of improper handling during manufacture, at retail, or by consumers; some examples are chopped garlic in oil, canned cheese sauce, chile peppers, tomatoes, carrot juice, and baked potatoes wrapped in foil. In Alaska, foodborne botulism is caused by fermented fish and other aquatic game foods. Persons who do home canning should follow strict hygienic procedures to reduce contamination of foods, and carefully follow instructions on safe home canning including the use of pressure canners/cookers as recommended through county extension services or from the US Department of Agriculture. Oils infused with garlic or herbs should be refrigerated. Potatoes which have been baked while wrapped in aluminum foil should be kept hot until served or refrigerated. Because the botulinum toxin is destroyed by high temperatures, persons who eat home-canned foods should consider boiling the food for 10 minutes before eating it to ensure safety. Wound botulism can be prevented by promptly seeking medical care for infected wounds and by not using injectable street drugs. Most infant botulism cases cannot be prevented because the bacteria that causes this disease is in soil and dust.  The bacteria can be found inside homes on floors, carpet, and countertops even after cleaning.  Honey can contain the bacteria that causes infant botulism so, children less than 12 months old should not be fed honey. Honey is safe for persons 1 year of age and older.


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[User] What are the treatments for Parasites - Toxoplasmosis (Toxoplasma infection) ?

[Assistant]
Healthy people (nonpregnant)

Most healthy people recover from toxoplasmosis without treatment. Persons who are ill can be treated with a combination of drugs such as pyrimethamine and sulfadiazine, plus folinic acid.

    Pregnant women, newborns, and infants

Pregnant women, newborns, and infants can be treated, although the parasite is not eliminated completely. The parasites can remain within tissue cells in a less active phase; their location makes it difficult for the medication to completely eliminate them.

    Persons with ocular disease

Persons with ocular toxoplasmosis are sometimes prescribed medicine to treat active disease by their ophthalmologist. Whether or not medication is recommended depends on the size of the eye lesion, the location, and the characteristics of the lesion (acute active, versus chronic not progressing).

    Persons with compromised immune systems

Persons with compromised immune systems need to be treated until they have improvement in their condition. For AIDS patients, continuation of medication for the rest of their lives may be necessary, or for as long as they are immunosuppressed.

More on: Resources for Health Professionals: Treatment


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[User] What are the treatments for Laryngeal cleft ?

[Assistant] How might laryngeal cleft be treated? Medical and feeding therapies are often the first treatments for patients with laryngeal cleft (particularly type I and type II).[4126]  Prevention of gastroesophageal reflux is also important in all types of clefts. Type I clefts often correct themselves over time with growth.  During infancy, nursing in the upright position or thickening of formula may be necessary.  If these treatments are not enough, surgery may be recommended. Different surgical approaches have been proposed for the management of laryngeal cleft. The timing and approach of surgery may differ depending upon the severity of symptoms, associated abnormalities, and type of cleft.


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[User] How to prevent Diabetes ?

[Assistant] The two most common forms of diabetes are type 1 and type 2. Currently, there is no way to delay or prevent type 1 diabetes. However, research has shown that making modest lifestyle changes can prevent or delay type 2 diabetes in people at risk for the disease. In the Diabetes Prevention Program (DPP), a landmark study by the National Institute of Diabetes and Digestive and Kidney Diseases, researchers found that adults at high risk for type 2 diabetes were able to cut their risk in half by losing a modest amount of weight and being active almost every day. This means losing 5 to 7 percent of body weight (that's 10 pounds if you weigh 200 pounds) and getting 150 minutes of physical activity a week. The DPP study also showed that modest weight loss (achieved by following a low calorie, low-fat diet) and moderate physical activity were especially effective in preventing or delaying the development of diabetes in older people. In fact, people over the age of 60 were able to reduce their risk for developing type 2 diabetes by 71 percent. (Watch the video to learn more about preventing type 2 diabetes. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.)