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[User] How to diagnose Short Bowel Syndrome ?

[Assistant]
A health care provider diagnoses short bowel syndrome based on

- a medical and family history  - a physical exam  - blood tests  - fecal fat tests  - an x-ray of the small and large intestines  - upper gastrointestinal (GI) series  - computerized tomography (CT) scan

Medical and Family History

Taking a medical and family history may help a health care provider diagnose short bowel syndrome. He or she will ask the patient about symptoms and may request a history of past operations.

Physical Exam

A physical exam may help diagnose short bowel syndrome. During a physical exam, a health care provider usually

- examines a patient's body, looking for muscle wasting or weight loss and signs of vitamin and mineral deficiencies  - uses a stethoscope to listen to sounds in the abdomen  - taps on specific areas of the patient's body

Blood Tests

A blood test involves drawing a patient's blood at a health care provider's office or a commercial facility and sending the sample to a lab for analysis. Blood tests can show mineral and vitamin levels and measure complete blood count.

Fecal Fat Tests

A fecal fat test measures the body's ability to break down and absorb fat. For this test, a patient provides a stool sample at a health care provider's office. The patient may also use a take-home test kit. The patient collects stool in plastic wrap that he or she lays over the toilet seat and places a sample into a container. A patient can also use a special tissue provided by the health care provider's office to collect the sample and place the tissue into the container. For children wearing diapers, the parent or caretaker can line the diaper with plastic to collect the stool. The health care provider will send the sample to a lab for analysis. A fecal fat test can show how well the small intestine is working.

X-ray

An x-ray is a picture created by using radiation and recorded on film or on a computer. The amount of radiation used is small. An x-ray technician performs the x-ray at a hospital or an outpatient center, and a radiologista doctor who specializes in medical imaginginterprets the images. An x-ray of the small intestine can show that the last segment of the large intestine is narrower than normal. Blocked stool causes the part of the intestine just before this narrow segment to stretch and bulge.

Upper Gastrointestinal Series

Upper GI series, also called a barium swallow, uses x rays and fluoroscopy to help diagnose problems of the upper GI tract. Fluoroscopy is a form of x ray that makes it possible to see the internal organs and their motion on a video monitor. An x-ray technician performs this test at a hospital or an outpatient center, and a radiologist interprets the images.

During the procedure, the patient will stand or sit in front of an x-ray machine and drink barium, a chalky liquid. Barium coats the esophagus, stomach, and small intestine so the radiologist and a health care provider can see the shape of these organs more clearly on x-rays.

A patient may experience bloating and nausea for a short time after the test. For several days afterward, barium liquid in the GI tract causes white or light-colored stools. A health care provider will give the patient specific instructions about eating and drinking after the test. Upper GI series can show narrowing and widening of the small and large intestines.

More information is provided in the NIDDK health topic, Upper GI Series.

Computerized Tomography Scan

Computerized tomography scans use a combination of x-rays and computer technology to create images. For a CT scan, a health care provider may give the patient a solution to drink and an injection of a special dye, called a contrast medium. CT scans require the patient to lie on a table that slides into a tunnel-shaped device that takes x-rays.

An x-ray technician performs the procedure in an outpatient center or a hospital, and a radiologist interprets the images. The patient does not need anesthesia. CT scans can show bowel obstruction and changes in the intestines.


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[User] What are the treatments for Leukonychia totalis ?

[Assistant] How might leukonychia totalis be treated? There is no universally successful treatment for the whitening of the nails in people with leukonychia totalis. However, if the condition is known to have an underlying cause, treating that cause (when possible) may improve the condition.


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[User] How to diagnose Danon disease ?

[Assistant] Is genetic testing available for Danon disease? Yes. GeneTests lists laboratories offering clinical genetic testing for Danon disease. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options. Click on the link above to view a list of testing laboratories.


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[User] What are the genetic changes related to hyperparathyroidism-jaw tumor syndrome ?

[Assistant] Mutations in the CDC73 gene (also known as the HRPT2 gene) cause hyperparathyroidism-jaw tumor syndrome. The CDC73 gene provides instructions for making a protein called parafibromin. This protein is found throughout the body and is likely involved in gene transcription, which is the first step in protein production. Parafibromin is also thought to play a role in cell growth and division (proliferation), either promoting or inhibiting cell proliferation depending on signals within the cell.  CDC73 gene mutations cause hyperparathyroidism-jaw tumor syndrome by reducing the amount of functional parafibromin that is produced. Most of these mutations result in a parafibromin protein that is abnormally short and nonfunctional. Without functional parafibromin, cell proliferation is not properly regulated. Uncontrolled cell division can lead to the formation of tumors. It is unknown why only certain tissues seem to be affected by changes in parafibromin.  Some people with hyperparathyroidism-jaw tumor syndrome do not have identified mutations in the CDC73 gene. The cause of the condition in these individuals is unknown.


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[User] What to do for Renal Tubular Acidosis ?

[Assistant] - Renal tubular acidosis (RTA) is a disease that occurs when the kidneys fail to excrete acids into the urine, which causes a person's blood to remain too acidic.  - Without proper treatment, chronic acidity of the blood leads to growth retardation, kidney stones, bone disease, chronic kidney disease, and possibly total kidney failure.  - If RTA is suspected, additional information about the sodium, potassium, and chloride levels in the urine and the potassium level in the blood will help identify which type of RTA a person has.  - In all cases, the first goal of therapy is to neutralize acid in the blood, but different treatments may be needed to address the different underlying causes of acidosis.


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[User] What is (are) Bilateral generalized polymicrogyria ?

[Assistant] Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. Signs and symptoms include severe intellectual disability, problems with movement, and seizures that are difficult or impossible to treat. While the exact cause of bilateral generalized polymicrogyria is not fully understood, it is thought to be due to improper brain development during embryonic growth. Most cases appear to follow an autosomal recessive pattern of inheritance. Treatment is based on the signs and symptoms present in each person.


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[User] What is (are) benign recurrent intrahepatic cholestasis ?

[Assistant] Benign recurrent intrahepatic cholestasis (BRIC) is characterized by episodes of liver dysfunction called cholestasis. During these episodes, the liver cells have a reduced ability to release a digestive fluid called bile. Because the problems with bile release occur within the liver (intrahepatic), the condition is described as intrahepatic cholestasis. Episodes of cholestasis can last from weeks to months, and the time between episodes, during which there are usually no symptoms, can vary from weeks to years.  The first episode of cholestasis usually occurs in an affected person's teens or twenties. An attack typically begins with severe itchiness (pruritus), followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. Other general signs and symptoms that occur during these episodes include a vague feeling of discomfort (malaise), irritability, nausea, vomiting, and a lack of appetite. A common feature of BRIC is the reduced absorption of fat in the body, which leads to excess fat in the feces (steatorrhea). Because of a lack of fat absorption and loss of appetite, affected individuals often lose weight during episodes of cholestasis.  BRIC is divided into two types, BRIC1 and BRIC2, based on the genetic cause of the condition. The signs and symptoms are the same in both types.  This condition is called benign because it does not cause lasting damage to the liver. However, episodes of liver dysfunction occasionally develop into a more severe, permanent form of liver disease known as progressive familial intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be part of a spectrum of intrahepatic cholestasis disorders of varying severity.


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[User] What are the stages of Adult Central Nervous System Tumors ?

[Assistant]
Key Points
                    - There is no standard staging system for adult brain and spinal cord tumors.    - Imaging tests may be repeated after surgery to help plan more treatment.

                    There is no standard staging system for adult brain and spinal cord tumors.
                    The extent or spread of cancer is usually described as stages. There is no standard staging system for brain and spinal cord tumors. Brain tumors that begin in the brain may spread to other parts of the brain and spinal cord, but they rarely spread to other parts of the body. Treatment of primary brain and spinal cord tumors is based on the following:         - The type of cell in which the tumor began.    - Where the tumor formed in the brain or spinal cord.    - The amount of cancer left after surgery.    - The grade of the tumor.        Treatment of tumors that have spread to the brain from other parts of the body is based on the number of tumors in the brain.

                    Imaging tests may be repeated after surgery to help plan more treatment.
                    Some of the tests and procedures used to diagnose a brain or spinal cord tumor may be repeated after treatment to find out how much tumor is left.


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[User] What is (are) nephronophthisis ?

[Assistant] Nephronophthisis is a disorder that affects the kidneys. It is characterized by inflammation and scarring (fibrosis) that impairs kidney function. These abnormalities lead to increased urine production (polyuria), excessive thirst (polydipsia), general weakness, and extreme tiredness (fatigue). In addition, affected individuals develop fluid-filled cysts in the kidneys, usually in an area known as the corticomedullary region. Another feature of nephronophthisis is a shortage of red blood cells, a condition known as anemia.  Nephronophthisis eventually leads to end-stage renal disease (ESRD), a life-threatening failure of kidney function that occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively. Nephronophthisis can be classified by the approximate age at which ESRD begins: around age 1 (infantile), around age 13 (juvenile), and around age 19 (adolescent).  About 85 percent of all cases of nephronophthisis are isolated, which means they occur without other signs and symptoms. Some people with nephronophthisis have additional features, which can include liver fibrosis, heart abnormalities, or mirror image reversal of the position of one or more organs inside the body (situs inversus).  Nephronophthisis can occur as part of separate syndromes that affect other areas of the body; these are often referred to as nephronophthisis-associated ciliopathies. For example, Senior-Lken syndrome is characterized by the combination of nephronophthisis and a breakdown of the light-sensitive tissue at the back of the eye (retinal degeneration); Joubert syndrome affects many parts of the body, causing neurological problems and other features, which can include nephronophthisis.


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[User] Is carnitine palmitoyltransferase II deficiency inherited ?

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


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[User] What is (are) Sialadenitis ?

[Assistant] Sialadenitis is an infection of the salivary glands. It is usually caused by a virus or bacteria. The parotid (in front of the ear) and submandibular (under the chin) glands are most commonly affected. Sialadenitis may be associated with pain, tenderness, redness, and gradual, localized swelling of the affected area. There are both acute and chronic forms. Although it is quite common among elderly adults with salivary gland stones, sialadenitis can also occur in other age groups, including infants during the first few weeks of life. Without proper treatment, sialadenitis can develop into a severe infection, especially in people who are debilitated or elderly.


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[User] What is (are) Quitting Smoking for Older Adults ?

[Assistant] Quitlines are free, anonymous telephone counseling services. These programs have helped more than 3 million smokers. When you call a quitline, you talk to a trained counselor who can help you develop a strategy for quitting or help you stay on track. The counselor can provide material that could improve your chances of quitting. - You can call the National Cancer Institutes Smoking Quitline at (877) 44U-QUIT or (877) 448-7848 between 8:00 a.m. and 8:00 p.m. Eastern Time.  You can call the National Cancer Institutes Smoking Quitline at (877) 44U-QUIT or (877) 448-7848 between 8:00 a.m. and 8:00 p.m. Eastern Time. - You can also call your states quitline. Call (800) QUIT-NOW or (800) 784-8669 to be connected with free resources about quitting and counseling information in your state.  You can also call your states quitline. Call (800) QUIT-NOW or (800) 784-8669 to be connected with free resources about quitting and counseling information in your state. - If you are a veteran, you can call (855)-QUIT VET or (855) 784-8838 between 8:00 a.m. and 8:00 p.m. Eastern Time on Mondays through Fridays.  If you are a veteran, you can call (855)-QUIT VET or (855) 784-8838 between 8:00 a.m. and 8:00 p.m. Eastern Time on Mondays through Fridays. You can also check out SmokeFree 60Plus. a quit-smoking website for older adults developed by the National Cancer Institute.


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[User] What is (are) Hypoaldosteronism ?

[Assistant] Hypoaldosteronism is a condition characterized by the shortage (deficiency) or impaired function of a hormone called aldosterone. Hypoaldosteronism may be described as hyporeninemic or hyperreninemic depending on renin levels. Hyporeninemic hypoaldosteronism occurs when there is decreased production of aldosterone due to decreased production of renin . Affected individuals typically have kidney (renal) disease due to various conditions, such as diabetes, interstitial nephritis, or multiple myeloma. Hyperreninemic hypoaldosteronism occurs when there is a problem with the production of aldosterone, but renin is produced normally by the kidneys. Common causes of this form of hypoaldosteronism are medications (ACE inhibitors), lead poisoning, severe illness, and aldosterone enzyme defects.


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[User] What are the treatments for Glucose-6-phosphate dehydrogenase deficiency ?

[Assistant] How might glucose-6-phosphate dehydrogenase (G6PD) deficiency be treated? The most important aspect of management for G6PD deficiency is to avoid agents that might trigger an attack. In cases of acute hemolytic anemia, a blood transfusion or even an exchange transfusion may be required. The G6PD Deficiency Association, which is an advocacy group that provides information and supportive resources to individuals and families affected by G6PD deficiency, provides a list of drugs and food ingredients that individuals with this condition should avoid. They also maintain a list of low risk drugs that are generally safe to take in low doses.


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[User] What is (are) Benign hereditary chorea ?

[Assistant] Benign hereditary chorea (BHC) is a rare movement disorder that begins in infancy or childhood. Signs and symptoms in infants may include low muscle tone, involuntary movements (chorea), lung infections, and respiratory distress. Signs and symptoms in children may include delayed motor and walking milestones, jerky muscle movements (myoclonus), upper limb dystonia, motor tics, and vocal tics. The chorea often improves with time. In some cases, myoclonus persists or worsens. Children with BHC can have normal intellect, but may have learning and behavior problems. Other signs and symptoms include thyroid problems (e.g., hypothyroidism) and lung disease (e.g., recurring infections). Treatment is tailored to each child. Tetrabenazine and levodopa have been tried in individual cases with some success. BHC is caused by mutations in the NKX2-1 gene (also known as the TITF1 gene). It is passed through families in an autosomal dominant fashion.


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[User] Do you have information about Medicare

[Assistant] Summary : Medicare is the U.S. government's health insurance program for people age 65 or older. Some people under age 65 can qualify for Medicare, too. They include those with disabilities, permanent kidney failure, or amyotrophic lateral sclerosis.    Medicare helps with the cost of health care. It does not cover all medical expenses or the cost of most long-term care. The program has four parts:       - Part A is hospital insurance    - Part B helps pay for medical services that Part A doesn't cover    - Part C is called Medicare Advantage. If you have Parts A and B, you can choose this option to receive all of your health care through a provider organization, like an HMO.    - Part D is prescription drug coverage. It helps pay for some medicines.


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[User] Is beta thalassemia inherited ?

[Assistant] Thalassemia major and thalassemia intermedia are inherited in an autosomal recessive pattern, which means both copies of the HBB 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. Sometimes, however, people with only one HBB gene mutation in each cell develop mild anemia. These mildly affected people are said to have thalassemia minor.  In a small percentage of families, the HBB gene mutation is inherited in an autosomal dominant manner. In these cases, one copy of the altered gene in each cell is sufficient to cause the signs and symptoms of beta thalassemia.


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[User] What is (are) Rare Diseases ?

[Assistant] A rare disease is one that affects fewer than 200,000 people in the United States. There are nearly 7,000 rare diseases. More than 25 million Americans have one.    Rare diseases       - May involve chronic illness, disability, and often premature death    - Often have no treatment or not very effective treatment    - Are frequently not diagnosed correctly    - Are often very complex    - Are often caused by changes in genes       It can be hard to find a specialist who knows how to treat your rare disease. Disease advocacy groups, rare disease organizations, and genetics clinics may help you to find one.    NIH: National Institutes of Health


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[User] What causes Hypersensitivity Pneumonitis ?

[Assistant]
Repeatedly breathing in foreign substances can cause hypersensitivity pneumonitis (HP). Examples of these substances include molds, dusts, and chemicals. (Mold often is the cause of HP.) These substances also are known as antigens.

Over time, your lungs can become sensitive to antigens. If this happens, your lungs will become inflamed, which can lead to symptoms and may even cause long-term lung damage.

Antigens may be found in the home, workplace, or in other settings. Antigens can come from many sources, such as:

Bird droppings

Humidifiers, heating systems, and hot tubs

Liquid chemicals used in the landscaping and florist industries

Moldy hay, straw, and grain

Chemicals released during the production of plastics and electronics, and chemicals released during painting

Mold released during lumber milling, construction, and wood stripping


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[User] What are the symptoms of Multiple myeloma ?

[Assistant] What are the signs and symptoms of Multiple myeloma? In some cases, multiple myeloma is not associated with any signs and symptoms. When present, the most common symptom is anemia (low red blood cell count), which can be associated with fatigue, shortness of breath, and dizziness. Other features of the condition may include: Bone pain Nausea Constipation Loss of appetite Frequent infections Weight loss Excessive thirst Weakness and/or numbness in the arms and legs Confusion Abnormal bleeding Weak bones that may break easily Difficulty breathing The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple myeloma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Multiple myeloma - Somatic mutation - 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) Alzheimer's Caregivers ?

[Assistant] Caring for someone who has Alzheimer's disease  (AD) can be stressful and overwhelming. It's important to take care of yourself. Ask for and accept help.    Talk to the doctor. Find out what treatments might help control symptoms or address behavior problems. Find a support group. Others who have "been there" may be able to help and will understand.     If there are times of day that the person is less confused or more cooperative, take advantage of that in daily routines. Consider using adult day care or respite services. These offer a break with the peace of mind that the patient is being taken care of. Begin to plan for the future. This may include        -  Getting financial and legal documents in order    -  Looking into assisted living or nursing homes    -  Finding out what your health insurance and Medicare will cover       NIH: National Institute on Aging


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[User] What is the outlook for Cavernous Malformation ?

[Assistant] Rebleeding from a cavernous angioma is common, it is not predictable, and individuals frequently have multiple CCMs found via magnetic resonance imaging. Individuals with CCM are faced with a diagnosis that imparts risk of multiple future hemorrhages that occur seemingly at random and without any preventative therapy except surgical removal.


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[User] What are the treatments for carnitine palmitoyltransferase II deficiency ?

[Assistant] These resources address the diagnosis or management of CPT II deficiency:  - Baby's First Test  - FOD (Fatty Oxidation Disorders) Family Support Group: Diagnostic Approach to Disorders of Fat Oxidation - Information for Clinicians  - Gene Review: Gene Review: Carnitine Palmitoyltransferase II Deficiency  - Genetic Testing Registry: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET  - Genetic Testing Registry: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL  - Genetic Testing Registry: Carnitine palmitoyltransferase II deficiency  - Genetic Testing Registry: Carnitine palmitoyltransferase II deficiency, infantile   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] What are the symptoms of Myelomeningocele ?

[Assistant] What are the signs and symptoms of myelomeningocele? A baby born with a myelomeningocele may have a sac sticking out of the mid to lower back that the doctor cannot see through when shining a light behind it. Symptoms of this condition include:[5182] Loss of bladder or bowel control Partial or complete lack of sensation Partial or complete paralysis of the legs Weakness of the hips, legs, or feet Some individuals may have additional symptoms. Other symptoms include: Abnormal feet or legs, such as clubfoot. Build up of fluid inside the skull (hydrocephalus) Hair at the back part of the pelvis called the sacral area Dimpling of the sacral area Meningitis Chiari II malformation Twenty to 50 percent of children with myelomeningocele develop a condition called progressive tethering, or tethered cord syndrome. A part of the spinal cord becomes fastened to an immovable structuresuch as overlying membranes and vertebraecausing the spinal cord to become abnormally stretched and the vertebrae elongated with growth and movement. This condition can cause change in the muscle function of the legs, as well as changes in bowel and bladder function. Early surgery on the spinal cord may help the child to regain a normal level of functioning and prevent further neurological deterioration.


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[User] What is the outlook for Friedreich's Ataxia ?

[Assistant] Generally, within 15 to 20 years after the appearance of the first symptoms, the person is confined to a wheelchair, and in later stages of the disease, individuals may become completely incapacitated. Friedreich's ataxia can shorten life expectancy; heart disease is the most common cause of death. Many individuals with Friedreich's ataxia die in early adulthood, but some people with less severe symptoms live into their 60s, 70s, or longer.


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[User] What to do for What I need to know about Hepatitis C ?

[Assistant] If you have chronic hepatitis C, you should do things to take care of yourself, including eating a healthy diet. Avoid drinking alcohol, which can harm the liver. Talk with your doctor before taking vitamins and other supplements.


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[User] How to diagnose Childhood Hodgkin Lymphoma ?

[Assistant] Tests that examine the lymph system are used to detect (find) and diagnose childhood Hodgkin lymphoma. The following tests and procedures may be used:         -   Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patient's health habits and past illnesses and treatments will also be taken.    -   CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, such as the neck, chest, abdomen, or pelvis, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography.     -   PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. Sometimes a PET scan and a CT scan are done at the same time. If there is any cancer, this increases the chance that it will be found.    -   Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body.    -   Complete blood count (CBC): A procedure in which a sample of blood is drawn and checked for the following:               - The number of red blood cells, white blood cells, and platelets.      - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells.      - The portion of the blood sample made up of red blood cells.              -   Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease.    -   Sedimentation rate : A procedure in which a sample of blood is drawn and checked for the rate at which the red blood cells settle to the bottom of the test tube. The sedimentation rate is a measure of how much inflammation is in the body. A higher than normal sedimentation rate may be a sign of lymphoma. Also called erythrocyte sedimentation rate, sed rate, or ESR.    -   Lymph node biopsy : The removal of all or part of a lymph node. The lymph node may be removed during an image-guided CT scan or a thoracoscopy, mediastinoscopy, or laparoscopy. One of the following types of biopsies may be done:                -  Excisional biopsy : The removal of an entire lymph node.       -  Incisional biopsy : The removal of part of a lymph node.      -  Core biopsy : The removal of tissue from a lymph node using a wide needle.      -  Fine-needle aspiration (FNA) biopsy : The removal of tissue from a lymph node using a thin needle.          A pathologist views the tissue under a microscope to look for cancer cells, especially Reed-Sternberg cells. Reed-Sternberg cells are common in classical Hodgkin lymphoma. The following test may be done on tissue that was removed:               -  Immunophenotyping : A laboratory test used to identify cells, based on the types of antigens or markers on the surface of the cell. This test is used to diagnose the specific type of lymphoma by comparing the cancer cells to normal cells of the immune system.


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[User] What are the genetic changes related to breast cancer ?

[Assistant] Cancers occur when a buildup of mutations in critical genesthose that control cell growth and division or repair damaged DNAallow cells to grow and divide uncontrollably to form a tumor. In most cases of breast cancer, these genetic changes are acquired during a person's lifetime and are present only in certain cells in the breast. These changes, which are called somatic mutations, are not inherited. Somatic mutations in many different genes have been found in breast cancer cells. Less commonly, gene mutations present in essentially all of the body's cells increase the risk of developing breast cancer. These genetic changes, which are classified as germline mutations, are usually inherited from a parent. In people with germline mutations, changes in other genes, together with environmental and lifestyle factors, also influence whether a person will develop breast cancer.  Some breast cancers that cluster in families are associated with inherited mutations in particular genes, such as BRCA1 or BRCA2. These genes are described as "high penetrance" because they are associated with a high risk of developing breast cancer, ovarian cancer, and several other types of cancer in women who have mutations. Men with mutations in these genes also have an increased risk of developing several forms of cancer, including breast cancer. The proteins produced from the BRCA1 and BRCA2 genes are involved in fixing damaged DNA, which helps to maintain the stability of a cell's genetic information. They are described as tumor suppressors because they help keep cells from growing and dividing too fast or in an uncontrolled way. Mutations in these genes impair DNA repair, allowing potentially damaging mutations to persist in DNA. As these defects accumulate, they can trigger cells to grow and divide without control or order to form a tumor.  A significantly increased risk of breast cancer is also a feature of several rare genetic syndromes. These include Cowden syndrome, which is most often caused by mutations in the PTEN gene; hereditary diffuse gastric cancer, which results from mutations in the CDH1 gene; Li-Fraumeni syndrome, which is usually caused by mutations in the TP53 gene; and Peutz-Jeghers syndrome, which typically results from mutations in the STK11 gene. The proteins produced from these genes act as tumor suppressors. Mutations in any of these genes can allow cells to grow and divide unchecked, leading to the development of a cancerous tumor. Like BRCA1 and BRCA2, these genes are considered "high penetrance" because mutations greatly increase a person's chance of developing cancer. In addition to breast cancer, mutations in these genes increase the risk of several other types of cancer over a person's lifetime. Some of the conditions also include other signs and symptoms, such as the growth of noncancerous (benign) tumors.  Mutations in dozens of other genes have been studied as possible risk factors for breast cancer. These genes are described as "low penetrance" or "moderate penetrance" because changes in each of these genes appear to make only a small or moderate contribution to overall breast cancer risk. Some of these genes provide instructions for making proteins that interact with the proteins produced from the BRCA1 or BRCA2 genes. Others act through different pathways. Researchers suspect that the combined influence of variations in these genes may significantly impact a person's risk of developing breast cancer.  In many families, the genetic changes associated with hereditary breast cancer are unknown. Identifying additional genetic risk factors for breast cancer is an active area of medical research.  In addition to genetic changes, researchers have identified many personal and environmental factors that contribute to a person's risk of developing breast cancer. These factors include gender, age, ethnic background, a history of previous breast cancer, certain changes in breast tissue, and hormonal and reproductive factors. A history of breast cancer in closely related family members is also an important risk factor, particularly if the cancer occurred in early adulthood.


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[User] What are the symptoms of Rhizomelic dysplasia Patterson Lowry type ?

[Assistant] What are the signs and symptoms of Rhizomelic dysplasia Patterson Lowry type? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhizomelic dysplasia Patterson Lowry type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of the hip bone 90% Abnormality of the humerus 90% Abnormality of the metacarpal bones 90% Brachydactyly syndrome 90% Depressed nasal ridge 90% Deviation of finger 90% Epicanthus 90% Genu valgum 90% Hyperlordosis 90% Large face 90% Limb undergrowth 90% Malar flattening 90% Mandibular prognathia 90% Short nose 90% Coxa vara - Deformed humeral heads - Platyspondyly - Rhizomelia - Short humerus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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[User] What are the symptoms of Chylomicron retention disease ?

[Assistant] What are the signs and symptoms of Chylomicron retention disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Chylomicron retention disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of blood and blood-forming tissues - Abnormality of the eye - Autosomal recessive inheritance - Diarrhea - Failure to thrive - Growth delay - Hypoalbuminemia - Hypobetalipoproteinemia - Hypocholesterolemia - Infantile onset - Intellectual disability - Malnutrition - Steatorrhea - 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 are the genetic changes related to progressive supranuclear palsy ?

[Assistant] In most cases, the genetic cause of progressive supranuclear palsy is unknown. Rarely, the disease results from mutations in the MAPT gene. Certain normal variations (polymorphisms) in the MAPT gene have also been associated with an increased risk of developing progressive supranuclear palsy.  The MAPT gene provides instructions for making a protein called tau. This protein is found throughout the nervous system, including in nerve cells (neurons) in the brain. It is involved in assembling and stabilizing microtubules, which are rigid, hollow fibers that make up the cell's structural framework (the cytoskeleton). Microtubules help cells maintain their shape, assist in the process of cell division, and are essential for the transport of materials within cells.  The signs and symptoms of progressive supranuclear palsy appear to be related to abnormalities in the tau protein. In people with MAPT gene mutations, genetic changes disrupt the protein's normal structure and function. However, abnormal tau is also found in affected individuals without MAPT gene mutations. The defective tau protein assembles into abnormal clumps within neurons and other brain cells, although it is unclear what effect these clumps have on cell function and survival. Progressive supranuclear palsy is characterized by the gradual death of brain cells, particularly in structures deep within the brain that are essential for coordinating movement. This loss of brain cells underlies the movement abnormalities and other features of progressive supranuclear palsy.  This condition is one of several related diseases known as tauopathies, which are characterized by an abnormal buildup of tau in the brain.  Researchers suspect that other genetic and environmental factors also contribute to progressive supranuclear palsy. For example, the disease has been linked to genetic changes on chromosome 1 and chromosome 11. However, the specific genes involved have not been identified.


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[User] What are the treatments for Balance Problems ?

[Assistant] In BPPV (benign paroxysmal positional vertigo), small calcium particles in the inner ear become displaced, causing dizziness. A doctor, otolaryngologist, audiologist, or physical therapist can treat BPPV by carefully moving the head and torso to move the displaced calcium particles back to their original position Learn more about causes and treatments for BPPV. An NIDCD-supported clinical trial in BPPV showed that repositioning maneuvers work well, and offered clinicians a range of choices in selecting the treatment best suited to each individuals unique needs.


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[User] How to diagnose Prothrombin thrombophilia ?

[Assistant] What kind of tests can determine if an individual has, or is a carrier of, prothrombin thrombophilia? No clinical signs or symptoms are specific for prothrombin thrombophilia. A confirmed diagnosis of this condition requires specific genetic testing via DNA analysis of the F2 gene, which provides instructions for making the protein prothrombin. The test identifies the presence of a common change (mutation) called 20210G>A. An individual can be a heterozygote (having one mutated copy of the F2 gene) or a homozygote (having two mutated copies). Most heterozygotes have a mildly elevated plasma concentration of prothrombin (which can be measured in a blood test) that is approximately 30% higher than normal. However, these values can vary greatly, and the range of prothrombin concentrations in heterozygotes overlaps significantly with the normal range. Therefore, plasma concentration of prothrombin is not reliable for diagnosis of this condition. Individuals interested in learning more about testing for prothrombin thrombophilia should speak with a genetics professional or other healthcare provider.


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[User] What is (are) Tremor ?

[Assistant] Tremors are unintentional trembling or shaking movements in one or more parts of your body. Most tremors occur in the hands. You can also have arm, head, face, vocal cord, trunk, and leg tremors. Tremors are most common in middle-aged and older people, but anyone can have them.    The cause of tremors is a problem in the parts of the brain that control muscles in the body or in specific parts of the body, such as the hands. They commonly occur in otherwise healthy people. They may also be caused by problems such as       - Parkinson's disease    - Dystonia    - Multiple sclerosis    - Stroke    - Traumatic brain injury    - Alcohol abuse and withdrawal    - Certain medicines       Some forms are inherited and run in families. Others have no known cause.     There is no cure for most tremors. Treatment to relieve them depends on their cause. In many cases, medicines and sometimes surgical procedures can reduce or stop tremors and improve muscle control. Tremors are not life threatening. However, they can be embarrassing and make it hard to perform daily tasks.    NIH: National Institute of Neurological Disorders and Stroke


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[User] How to prevent Heart Valve Disease ?

[Assistant]
To prevent heart valve disease caused by rheumatic fever, see your doctor if you have signs of a strep infection. These signs include a painful sore throat, fever, and white spots on your tonsils. If you do have a strep infection, be sure to take all medicines prescribed to treat it. Prompt treatment of strep infections can prevent rheumatic fever, which damages the heartvalves.

Its possible that exercise, a heart-healthy diet, and medicines that lower cholesterol might prevent aortic stenosis (thickening and stiffening of the aortic valve). Researchers continue to study this possibility.

Heart-healthy eating, physical activity, other heart-healthy lifestyle changes, and medicines aimed at preventing a heart attack, high blood pressure, or heart failure also may help prevent heart valve disease.


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[User] What are the symptoms of Hyperinsulinemic hypoglycemia familial 3 ?

[Assistant] What are the signs and symptoms of Hyperinsulinemic hypoglycemia familial 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Hyperinsulinemic hypoglycemia familial 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Diabetes mellitus - Hyperinsulinemic hypoglycemia - Hypoglycemic coma - Hypoglycemic seizures - Intellectual 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 symptoms of Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence ?

[Assistant] What are the signs and symptoms of Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence? The Human Phenotype Ontology provides the following list of signs and symptoms for Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence. 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 nose 90% Arrhythmia 90% Brachydactyly syndrome 90% Short distal phalanx of finger 90% Short stature 90% Short toe 90% Tapered finger 90% Aplasia/Hypoplasia of the distal phalanges of the toes 50% Cleft palate 50% Low anterior hairline 50% Reduced number of teeth 50% Abnormality of the metacarpal bones 7.5% Camptodactyly of finger 7.5% Cognitive impairment 7.5% Glossoptosis 7.5% Microcephaly 7.5% Autosomal dominant inheritance - Pierre-Robin sequence - Posteriorly placed tongue - Submucous cleft hard palate - Syncope - Tachycardia - Ventricular extrasystoles - 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 to diagnose Roberts syndrome ?

[Assistant] How is Roberts syndrome diagnosed? The diagnosis of Roberts syndrome is suspected in individuals with the following: Prenatal growth delay ranging from mild to severe. Average birth length and weight is typically below the third percentile in most affected infants. Limb malformations including bilateral, symmetric tetraphocomelia (phocomelia of all 4 limbs) or hypomelia (underdevelopment of the limbs) caused by mesomelic shortening (shortening of the middle part of the limb). Upper limbs are typically more severely affected than lower limbs. Other limb malformations include oligodactyly with thumb aplasia (lack of formation) or hypoplasia (underdevelopment), syndactyly, clinodactyly, and elbow and knee flexion contractures (inability to fully straighten the arms and legs). Craniofacial abnormalities including bilateral cleft lip and/or palate, micrognathia (small jaw), hypertelorism (widely-spaced eyes), exophthalmos (bulging eyes), downslanting palpebral fissures, malar hypoplasia (underdeveloped cheek bones), hypoplastic nasal alae, and ear malformations. The diagnosis of Roberts syndrome relies on a cytogenetic blood test of individuals with the above features. Cytogenetic testing would show the characteristic chromosomal abnormalities that are present in individuals with the condition. Is genetic testing available for Roberts syndrome? Genetic testing is currently available for Roberts syndrome. GeneTests lists the names of laboratories that are performing genetic testing for Roberts syndrome. To view the contact information for the clinical laboratories conducting testing click here. To access the contact information for the research laboratories performing genetic testing, click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.


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[User] What are the treatments for Hematuria (Blood in the Urine) ?

[Assistant] Hematuria is treated by treating its underlying cause. If no serious condition is causing hematuria, no treatment is needed. Hematuria caused by a UTI is treated with antibiotics; urinalysis should be repeated 6 weeks after antibiotic treatment ends to be sure the infection has resolved.


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[User] What is (are) Nemaline myopathy ?

[Assistant] Nemaline myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with nemaline myopathy have muscle weakness (myopathy) throughout the body, but it is typically most severe in the muscles of the face, neck, and limbs. This weakness can worsen over time. Affected individuals may have feeding and swallowing difficulties, foot deformities, abnormal curvature of the spine (scoliosis), and joint deformities (contractures). Mutations in at least six genes can cause nemaline myopathy. Some individuals with nemaline myopathy do not have an identified mutation. The genetic cause of the disorder is unknown in these individuals. Nemaline myopathy is usually inherited in an autosomal recessive pattern. Less often, this condition is inherited in an autosomal dominant pattern. Nemaline myopathy is divided into six types. You can search for information about a particular type of nemaline myopathy from the GARD Home page. Enter the name of the condition in the GARD search box and then select the type from the drop down menu.


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[User] What are the symptoms of Schwartz Jampel syndrome type 1 ?

[Assistant] What are the signs and symptoms of Schwartz Jampel syndrome type 1? Individuals with Schwartz-Jampel syndrome type 1 (SJS1) have characteristic facial features, muscle weakness (hypotonia), and muscle stiffness (myotonia). Facial features of individuals with SJS1 can seem "fixed" in the same expression with puckered lips due to weakening and stiffening of the facial muscles. Additional facial features may include:   Blepharophimosis (narrowing of the eye opening) Epicanthal folds (skin fold of the upper eyelid covering the inner corner of the eye) Blepharospasm (involuntary blinking or spasm of the eyelids) Hypertrichosis (excessive hair) of the eye lashes         Micrognathia (small lower jaw) Individuals with SJS1 usually have short stature. Other skeletal and joint findings may include: Shortened neck Pectus carinatum (outward bowing of the chest) Kyphosis (curving of the spine that causes a bowing or rounding of the back) Coxa valga (hip deformity involving an increased neck-shaft angle of the femur) Joint contractures  Osteoporosis Widening of the metaphysis (portion of the bone containing the growth plate) Delayed bone age Other less common symptoms include: a high pitched voice, bilateral carpel tunnel syndrome, and malignant hyperthermia. One study suggested that as many as 20% of individuals with SJS1 have an intellectual disability; however, most individuals with SJS1 have normal intelligence. The Human Phenotype Ontology provides the following list of signs and symptoms for Schwartz Jampel syndrome type 1. 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 epiphysis morphology 90% Abnormality of the metaphyses 90% Cognitive impairment 90% EMG abnormality 90% Full cheeks 90% Gait disturbance 90% Genu valgum 90% Hypertonia 90% Limitation of joint mobility 90% Low-set, posteriorly rotated ears 90% Micromelia 90% Myotonia 90% Narrow mouth 90% Pes planus 90% Short stature 90% Skeletal dysplasia 90% Talipes 90% Trismus 90% Visual impairment 90% Abnormal vertebral ossification 50% Abnormality of the eyebrow 50% Abnormality of the pharynx 50% Blepharophimosis 50% Cataract 50% Hyperlordosis 50% Kyphosis 50% Malar flattening 50% Mask-like facies 50% Myopathy 50% Myopia 50% Overfolded helix 50% Pectus carinatum 50% Platyspondyly 50% Prominent nasal bridge 50% Ptosis 50% Reduced bone mineral density 50% Scoliosis 50% Short neck 50% Skeletal muscle hypertrophy 50% Spinal rigidity 50% Strabismus 50% Abnormality of immune system physiology 7.5% Abnormality of the ribs 7.5% Abnormality of the ureter 7.5% Abnormally straight spine 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Apnea 7.5% Arrhythmia 7.5% Attention deficit hyperactivity disorder 7.5% Cleft palate 7.5% Decreased body weight 7.5% Delayed skeletal maturation 7.5% Distichiasis 7.5% Ectopia lentis 7.5% Elbow dislocation 7.5% Feeding difficulties in infancy 7.5% Hypertelorism 7.5% Hypertrichosis 7.5% Increased bone mineral density 7.5% Laryngomalacia 7.5% Long philtrum 7.5% Low anterior hairline 7.5% Malignant hyperthermia 7.5% Microcephaly 7.5% Microcornea 7.5% Muscle weakness 7.5% Myalgia 7.5% Nephrolithiasis 7.5% Neurological speech impairment 7.5% Odontogenic neoplasm 7.5% Pectus excavatum 7.5% Polyhydramnios 7.5% Prenatal movement abnormality 7.5% Protrusio acetabuli 7.5% Pulmonary hypertension 7.5% Respiratory insufficiency 7.5% Skeletal muscle atrophy 7.5% Sprengel anomaly 7.5% Testicular torsion 7.5% Umbilical hernia 7.5% Wormian bones 7.5% Abnormality of femoral epiphysis - Anterior bowing of long bones - Autosomal recessive inheritance - Congenital hip dislocation - Coronal cleft vertebrae - Coxa valga - Coxa vara - Decreased testicular size - Flat face - Flexion contracture of toe - Generalized hirsutism - High pitched voice - Hip contracture - Hyporeflexia - Inguinal hernia - Intellectual disability - Joint contracture of the hand - Kyphoscoliosis - Long eyelashes in irregular rows - Low-set ears - Lumbar hyperlordosis - Metaphyseal widening - Osteoporosis - Pursed lips - Shoulder flexion contracture - Talipes equinovarus - Weak voice - Wrist flexion contracture - 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) Hypothyroidism ?

[Assistant]
The thyroid is a 2-inch-long, butterfly-shaped gland weighing less than 1 ounce. Located in the front of the neck below the larynx, or voice box, it has two lobes, one on each side of the windpipe. The thyroid is one of the glands that make up the endocrine system. The glands of the endocrine system produce and store hormones and release them into the bloodstream. The hormones then travel through the body and direct the activity of the bodys cells.

The thyroid gland makes two thyroid hormones, triiodothyronine (T3) and thyroxine (T4). T3 is made from T4 and is the more active hormone, directly affecting the tissues. Thyroid hormones affect metabolism, brain development, breathing, heart and nervous system functions, body temperature, muscle strength, skin dryness, menstrual cycles, weight, and cholesterol levels.


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[User] what is cdc doing to address visa and vrsa?

[Assistant] On this Page General Information about VISA/VRSA What is Staphylococcus aureus? How do VISA and VRSA get their names? What should a patient do if they suspect they have a Staph, MRSA, VISA, or VRSA infection? Are VISA and VRSA infections treatable? How can the spread of VISA and VRSA be prevented? What should a person do if a family member or close friend has VISA or VRSA? What is CDC doing to address VISA and VRSA? Recommendations and Guidelines General Information about VISA/VRSA For more images of this bacterium, search the Public Health Image Library Vancomycin [van−kō−mī−sin]-intermediate Staphylococcus aureus [staff−u−lu−kaw−kus  aw−ree−us] (also called VISA) and Vancomycin-resistant Staphylococcus aureus (also called VRSA) are specific types of antimicrobial-resistant bacteria. However, as of October 2010, all VISA and VRSA isolates have been susceptible to other Food and Drug Administration (FDA)-approved drugs. Persons who develop this type of staph infection may have underlying health conditions (such as diabetes and kidney disease), tubes going into their bodies (such as catheters), previous infections with methicillin-resistant Staphylococcus aureus (MRSA), and recent exposure to vancomycin and other antimicrobial agents. What is Staphylococcus aureus? Staphylococcus aureus is a bacterium commonly found on the skin and in the nose of about 30% of individuals. Most of the time, staph does not cause any harm. These infections can look like pimples, boils, or other skin conditions and most are able to be treated. Sometimes staph bacteria can get into the bloodstream and cause serious infections which can be fatal, including: Bacteremia or sepsis when bacteria spread to the bloodstream usually as a result of using catheters or having surgery. Pneumonia which predominantly affects people with underlying lung disease including those on mechanical ventilators. Endocarditis (infection of the heart valves) which can lead to heart failure. Osteomyelitis (bone infection) which can be caused by staph bacteria traveling in the bloodstream or put there by direct contact such as following trauma (puncture wound of foot or intravenous (IV) drug abuse). Top of page How do VISA and VRSA get their names? Staph bacteria are classified as VISA or VRSA based on laboratory tests. Laboratories perform tests to determine if staph bacteria are resistant to antimicrobial agents that might be used for treatment of infections. For vancomycin and other antimicrobial agents, laboratories determine how much of the agent it requires to inhibit the growth of the organism in a test tube. The result of the test is usually expressed as a minimum inhibitory concentration (MIC) or the minimum amount of antimicrobial agent that inhibits bacterial growth in the test tube. Therefore, staph bacteria are classified as VISA if the MIC for vancomycin is 4-8µg/ml, and classified as VRSA if the vancomycin MIC is ≥16µg/ml. Top of page What should a patient do if they suspect they have a staph, MRSA, VISA, or VRSA infection? See a healthcare provider. Top of page Are VISA and VRSA infections treatable? Yes. As of October 2010, all VISA and VRSA isolates have been susceptible to several Food and Drug Administration (FDA)-approved drugs. Top of page How can the spread of VISA and VRSA be prevented? Use of appropriate infection control practices (such as wearing gloves before and after contact with infectious body substances and adherence to hand hygiene) by healthcare personnel can reduce the spread of VISA and VRSA. Top of page What should a person do if a family member or close friend has VISA or VRSA? VISA and VRSA are types of antibiotic-resistant staph bacteria. Therefore, as with all staph bacteria, spread occurs among people having close physical contact with infected patients or contaminated material, such as bandages. Persons having close physical contact with infected patients while they are outside of the healthcare setting should: (1) keep their hands clean by washing thoroughly with soap and water, and (2) avoid contact with other people's wounds or material contaminated from wounds. If they go to the hospital to visit a friend or family member who is infected with VISA or VRSA , they must follow the hospital's recommended precautions. Top of page What is CDC doing to address VISA and VRSA? In addition to providing guidance for clinicians and infection control personnel, CDC is also working with state and local health agencies, healthcare facilities, and clinical microbiology laboratories to ensure that laboratories are using proper methods to detect VISA and VRSA. Top of page Recommendations and Guidelines CDC issued a Clinical Reminder, in 2010, which serves as a reminder about the important role of clinical laboratories in the diagnosis of VRSA cases to ensure prompt recognition, isolation, and management by infection control personnel. Investigation and Control of Vancomycin-Resistant Staphylococcus aureus (VRSA) [PDF - 300 KB] - This document is a guide to conducting a public health investigation of patients from whom vancomycin-resistant Staphylococcus aureus (VRSA, vancomycin MIC ≥ 16 µg/ml) has been isolated. The information reflects the experience gained from field investigations of the first fourteen VRSA identified in the United States. Top of page


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[User] What to do for Growth Failure in Children with Chronic Kidney Disease ?

[Assistant] - Growth failure is a complication of chronic kidney disease (CKD) in which children do not grow as expected.  - Health care providers use charts to monitor the growth of children with CKD and look for signs of growth failure.  - Researchers have found that many factors cause growth failure in children with CKD.  - Health care providers treat growth failure in children with CKD with      - changes in eating, diet, and nutrition    - medications    - growth hormone therapy    - Encouraging children to develop healthy eating habits can help prevent poor nutrition and promote healthy growing.  - The health care team will work with parents or caretakers to develop a healthy diet tailored to meet the needs of their child.  - When a health care provider diagnoses a child with CKD and the child begins to show signs of growth failure, the health care provider may prescribe daily human growth hormone injections.


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[User] What are the symptoms of Alopecia areata ?

[Assistant] What are the signs and symptoms of Alopecia areata? The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia areata. 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) Alopecia areata - Alopecia totalis - Autoimmunity - Multifactorial inheritance - Nail pits - 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) Merkel cell carcinoma ?

[Assistant] Merkel cell carcinoma (MCC) is a rare type of skin cancer that usually appears as a single, painless, lump on sun-exposed skin. It is typically red or violet in color. It is considered fast-growing and can spread quickly to surrounding tissues, nearby lymph nodes, or more distant parts of the body. Merkel cell polyomavirus has been detected in about 80% of the tumors tested. It is thought that this virus can cause somatic mutations leading to MCC when the immune system is weakened. Other risk factors for developing MCC include ultraviolet radiation and being over 50 years of age. Treatment should begin early and depends on the location and size of the cancer, and the extent to which it has spread.


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[User] What are the genetic changes related to cone-rod dystrophy ?

[Assistant] Mutations in approximately 30 genes are known to cause cone-rod dystrophy. Approximately 20 of these genes are associated with the form of cone-rod dystrophy that is inherited in an autosomal recessive pattern. Mutations in the ABCA4 gene are the most common cause of autosomal recessive cone-rod dystrophy, accounting for 30 to 60 percent of cases. At least 10 genes have been associated with cone-rod dystrophy that is inherited in an autosomal dominant pattern. Mutations in the GUCY2D and CRX genes account for about half of these cases. Changes in at least two genes cause the X-linked form of the disorder, which is rare.  The genes associated with cone-rod dystrophy play essential roles in the structure and function of specialized light receptor cells (photoreceptors) in the retina. The retina contains two types of photoreceptors, rods and cones. Rods are needed for vision in low light, while cones provide vision in bright light, including color vision.  Mutations in any of the genes associated with cone-rod dystrophy lead to a gradual loss of rods and cones in the retina. The progressive degeneration of these cells causes the characteristic pattern of vision loss that occurs in people with cone-rod dystrophy. Cones typically break down before rods, which is why sensitivity to light and impaired color vision are usually the first signs of the disorder. (The order of cell breakdown is also reflected in the condition name.) Night vision is disrupted later, as rods are lost.  Some of the genes associated with cone-rod dystrophy are also associated with other eye diseases, including a group of related eye disorders called rod-cone dystrophy. Rod-cone dystrophy has signs and symptoms similar to those of cone-rod dystrophy. However, rod-cone dystrophy is characterized by deterioration of the rods first, followed by the cones, so night vision is affected before daylight and color vision. The most common form of rod-cone dystrophy is a condition called retinitis pigmentosa.


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[User] What are the symptoms of Encephalocraniocutaneous lipomatosis ?

[Assistant] What are the signs and symptoms of Encephalocraniocutaneous lipomatosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Encephalocraniocutaneous lipomatosis. 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) Alopecia 90% Cognitive impairment 90% Multiple lipomas 90% Retinopathy 90% Seizures 90% Abnormality of the tricuspid valve 50% Aplasia/Hypoplasia of the corpus callosum 50% Bone cyst 50% Cerebral calcification 50% Cerebral cortical atrophy 50% Craniofacial hyperostosis 50% Hypertonia 50% Iris coloboma 50% Macrocephaly 50% Neoplasm of the skeletal system 50% Neurological speech impairment 50% Opacification of the corneal stroma 50% Osteolysis 50% Pulmonary hypertension 50% Ventriculomegaly 50% Visceral angiomatosis 50% Abnormality of the aorta 7.5% Hemiplegia/hemiparesis 7.5% Neoplasm of the nervous system 7.5% Skeletal dysplasia 7.5% Abnormality of the anterior chamber - Agenesis of corpus callosum - Arachnoid cyst - Atria septal defect - Cerebellar hypoplasia - Cleft eyelid - Cortical dysplasia - Cryptorchidism - Dandy-Walker malformation - Epibulbar dermoid - Hydrocephalus - Hydronephrosis - Hypoplasia of the corpus callosum - Hypoplasia of the iris - Linear hyperpigmentation - Lipoma - Lipomas of the central neryous system - Microphthalmia - Pelvic kidney - Peripheral pulmonary artery stenosis - Sclerocornea - Subaortic stenosis - Subcutaneous lipoma - 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) multiple sclerosis ?

[Assistant] Multiple sclerosis is a condition characterized by areas of damage (lesions) on the brain and spinal cord. These lesions are associated with destruction of the covering that protects nerves and promotes the efficient transmission of nerve impulses (the myelin sheath) and damage to nerve cells. Multiple sclerosis is considered an autoimmune disorder; autoimmune disorders occur when the immune system malfunctions and attacks the body's own tissues and organs, in this case tissues of the nervous system.  Multiple sclerosis usually begins in early adulthood, between ages 20 and 40. The symptoms vary widely, and affected individuals can experience one or more effects of nervous system damage. Multiple sclerosis often causes sensory disturbances in the limbs, including a prickling or tingling sensation (paresthesia), numbness, pain, and itching. Some people experience Lhermitte sign, which is an electrical shock-like sensation that runs down the back and into the limbs. This sensation usually occurs when the head is bent forward. Problems with muscle control are common in people with multiple sclerosis. Affected individuals may have tremors, muscle stiffness (spasticity), exaggerated reflexes (hyperreflexia), weakness or partial paralysis of the muscles of the limbs, difficulty walking, or poor bladder control. Multiple sclerosis is also associated with vision problems, such as blurred or double vision or partial or complete vision loss. Infections that cause fever can make the symptoms worse.  There are several forms of multiple sclerosis: relapsing-remitting MS, secondary progressive MS, primary progressive MS, and progressive relapsing MS. The most common is the relapsing-remitting form, which affects approximately 80 percent of people with multiple sclerosis. Individuals with this form of the condition have periods during which they experience symptoms, called clinical attacks, followed by periods without any symptoms (remission). The triggers of clinical attacks and remissions are unknown. After about 10 years, relapsing-remitting MS usually develops into another form of the disorder called secondary progressive MS. In this form, there are no remissions, and symptoms of the condition continually worsen.  Primary progressive MS is the next most common form, affecting approximately 10 to 20 percent of people with multiple sclerosis. This form is characterized by constant symptoms that worsen over time, with no clinical attacks or remissions. Primary progressive MS typically begins later than the other forms, around age 40.  Progressive relapsing MS is a rare form of multiple sclerosis that initially appears like primary progressive MS, with constant symptoms. However, people with progressive relapsing MS also experience clinical attacks of more severe symptoms.


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[User] What is (are) Anxiety Disorders ?

[Assistant] Occasional anxiety is a normal part of life. You might feel anxious when faced with a problem at work, before taking a test, or making an important decision. However, anxiety disorders involve more than temporary worry or fear. For a person with an anxiety disorder, the anxiety does not go away and can get worse over time. These feelings can interfere with daily activities such as job performance, school work, and relationships. (Watch the video to learn about the types of anxiety disorders. 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.) Anxiety Disorders in Older Adults Studies estimate that anxiety disorders affect up to 15 percent of older adults in a given year. More women than men experience anxiety disorders. They tend to be less common among older adults than younger adults. But developing an anxiety disorder late in life is not a normal part of aging. Anxiety disorders commonly occur along with other mental or physical illnesses, including alcohol or substance abuse, which may mask anxiety symptoms or make them worse. In older adults, anxiety disorders often occur at the same time as depression, heart disease, diabetes, and other medical problems. In some cases, these other problems need to be treated before a person can respond well to treatment for anxiety. There are three types of anxiety disorders discussed here. - generalized anxiety disorder  - social phobia  - panic disorder generalized anxiety disorder social phobia panic disorder Generalized Anxiety Disorder (GAD) All of us worry about things like health, money, or family problems. But people with generalized anxiety disorder (GAD) are extremely worried about these and many other things, even when there is little or no reason to worry about them. They are very anxious about just getting through the day. They think things will always go badly. At times, worrying keeps people with GAD from doing everyday tasks.  Learn more about generalized anxiety disorder (GAD).  Social Phobia In social phobia, a person fears being judged by others or of being embarrassed. This fear can get in the way of doing everyday things such as going to work, running errands, or meeting with friends. People who have social phobia often know that they shouldn't be so afraid, but they can't control their fear.  Learn more about social phobia.  Panic Disorder In panic disorder, a person has sudden, unexplained attacks of terror, and often feels his or her heart pounding. During a panic attack, a person feels a sense of unreality, a fear of impending doom, or a fear of losing control. Panic attacks can occur at any time. Learn more about panic disorder.  Anxiety Disorders Are Treatable In general, anxiety disorders are treated with medication, specific types of psychotherapy, or both. Treatment choices depend on the type of disorder, the persons preference, and the expertise of the doctor. If you think you have an anxiety disorder, talk to your doctor.


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[User] What are the treatments for Nonalcoholic steatohepatitis ?

[Assistant] How might nonalcoholic steatohepatitis be treated? Currently, there are no specific therapies for NASH. The most important recommendations given to persons with this disease are to: reduce their weight (if obese or overweight) follow a balanced and healthy diet increase physical activity avoid alcohol avoid unnecessary medications These are standard recommendations, but they can make a difference. They are also helpful for other conditions, such as heart disease, diabetes, and high cholesterol. Individuals with other medical conditions (diabetes, high blood pressure, or elevated cholesterol) should be treated with medication as advised by their physician. Some new treatment options are now being studied in clinical trials. These include the use of antioxidants (such as vitamin E, selenium, and betaine) and some newer antidiabetic medications (metformin, rosiglitazone, and pioglitazone) which treat insulin resistance.


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[User] What are the treatments for infantile systemic hyalinosis ?

[Assistant] These resources address the diagnosis or management of infantile systemic hyalinosis:  - Gene Review: Gene Review: Hyalinosis, Inherited Systemic  - Genetic Testing Registry: Hyaline fibromatosis syndrome  - MedlinePlus Encyclopedia: Protein-losing enteropathy   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] What are the symptoms of Carotid Artery Disease ?

[Assistant]
Carotid artery disease may not cause signs or symptoms until it severely narrows or blocks a carotid artery. Signs and symptoms may include a bruit, a transient ischemic attack(TIA), or a stroke.

Bruit

During a physical exam, your doctor may listen to your carotid arteries with a stethoscope. He or she may hear a whooshing sound called a bruit. This sound may suggest changed or reduced blood flow due to plaque buildup. To find out more, your doctor may recommend tests.

Not all people who have carotid artery disease have bruits.

Transient Ischemic Attack (Mini-Stroke)

For some people, having a transient ischemic attack (TIA), or mini-stroke, is the first sign of carotid artery disease. During a mini-stroke, you may have some or all of the symptoms of a stroke. However, the symptoms usually go away on their own within 24 hours.

Stroke and mini-stroke symptoms may include:

A sudden, severe headache with no known cause

Dizziness or loss of balance

Inability to move one or more of your limbs

Sudden trouble seeing in one or both eyes

Sudden weakness or numbness in the face or limbs, often on just one side of the body

Trouble speaking or understanding speech

Even if the symptoms stop quickly, call 911 for emergency help. Do not drive yourself to the hospital. Its important to get checked and to get treatment started as soon as possible.

A mini-stroke is a warning sign that youre at high risk of having a stroke. You shouldnt ignore these symptoms. Getting medical care can help find possible causes of a mini-stroke and help you manage risk factors. These actions might prevent a future stroke.

Although a mini-stroke may warn of a stroke, it doesnt predict when a stroke will happen. A stroke may occur days, weeks, or even months after a mini-stroke.

Stroke

The symptoms of a stroke are the same as those of a mini-stroke, but the results are not. A stroke can cause lasting brain damage; long-term disability, such as vision or speech problems or paralysis (an inability to move); or death. Most people who have strokes have not previously had warning mini-strokes.

Getting treatment for a stroke right away is very important. You have the best chance for full recovery if treatment to open a blocked artery is given within 4 hours of symptom onset. The sooner treatment occurs, the better your chances of recovery.

Call 911 for emergency help as soon as symptoms occur. Do not drive yourself to the hospital. Its very important to get checked and to get treatment started as soon as possible.

Make those close to you aware of stroke symptoms and the need for urgent action. Learning the signs and symptoms of a stroke will allow you to help yourself or someone close to you lower the risk of brain damage or death due to a stroke.


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[User] How many people are affected by ophthalmo-acromelic syndrome ?

[Assistant] The prevalence of ophthalmo-acromelic syndrome is not known; approximately 35 cases have been reported in the medical literature.


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[User] What is (are) Dry Mouth ?

[Assistant] Dry mouth is the feeling that there is not enough saliva in your mouth. Everyone has a dry mouth once in a while - if they are nervous, upset or under stress. But if you have a dry mouth all or most of the time, it can be uncomfortable and can lead to serious health problems.    Symptoms of dry mouth include       - A sticky, dry feeling in the mouth    - Trouble chewing, swallowing, tasting, or speaking    - A burning feeling in the mouth    - A dry feeling in the throat    - Cracked lips    - A dry, rough tongue    - Mouth sores    - An infection in the mouth       Dry mouth is not a normal part of aging. Causes include some medicines, radiation therapy, chemotherapy, and nerve damage. Salivary gland diseases, Sjogren's syndrome, HIV/AIDS, and diabetes can also cause dry mouth. Treatment depends on the cause. Things you can do include sipping water, avoiding drinks with caffeine, tobacco, and alcohol, and chewing sugarless gum or sucking on sugarless hard candy.    NIH: National Institute of Dental and Craniofacial Research


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[User] What are the treatments for hypophosphatasia ?

[Assistant] These resources address the diagnosis or management of hypophosphatasia:  - Gene Review: Gene Review: Hypophosphatasia  - Genetic Testing Registry: Adult hypophosphatasia  - Genetic Testing Registry: Childhood hypophosphatasia  - Genetic Testing Registry: Hypophosphatasia  - Genetic Testing Registry: Infantile hypophosphatasia  - MedlinePlus Encyclopedia: Osteomalacia   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care


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[User] Who is at risk for Childhood Soft Tissue Sarcoma? ?

[Assistant] Having certain diseases and inherited disorders can increase the risk of childhood soft tissue sarcoma. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your childs doctor if you think your child may be at risk.    Risk factors for childhood soft tissue sarcoma include having the following inherited disorders:         -  Li-Fraumeni syndrome.     -  Familial adenomatous polyposis (FAP).    -  Retinoblastoma 1 gene changes.    -  Neurofibromatosis type 1 (NF1).    -  Werner syndrome.        Other risk factors include the following:         - Past treatment with radiation therapy.    - Having AIDS (acquired immune deficiency syndrome) and Epstein-Barr virus infection at the same time.


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[User] What is (are) Stroke ?

[Assistant] A stroke is a medical emergency. Strokes happen when blood flow to your brain stops. Within minutes, brain cells begin to die. There are two kinds of stroke. The more common kind, called ischemic stroke, is caused by a blood clot that blocks or plugs a blood vessel in the brain. The other kind, called hemorrhagic stroke, is caused by a blood vessel that breaks and bleeds into the brain. "Mini-strokes" or transient ischemic attacks (TIAs), occur when the blood supply to the brain is briefly interrupted.    Symptoms of stroke are        - Sudden numbness or weakness of the face, arm or leg (especially on one side of the body)    - Sudden confusion, trouble speaking or understanding speech    - Sudden trouble seeing in one or both eyes    - Sudden trouble walking, dizziness, loss of balance or coordination    - Sudden severe headache with no known cause       If you have any of these symptoms, you must get to a hospital quickly to begin treatment. Acute stroke therapies try to stop a stroke while it is happening by quickly dissolving the blood clot or by stopping the bleeding. Post-stroke rehabilitation helps individuals overcome disabilities that result from stroke damage. Drug therapy with blood thinners is the most common treatment for stroke.     NIH: National Institute of Neurological Disorders and Stroke


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[User] How to diagnose Diabetic Neuropathies: The Nerve Damage of Diabetes ?

[Assistant]
Doctors diagnose neuropathy on the basis of symptoms and a physical exam. During the exam, the doctor may check blood pressure, heart rate, muscle strength, reflexes, and sensitivity to position changes, vibration, temperature, or light touch.

Foot Exams

Experts recommend that people with diabetes have a comprehensive foot exam each year to check for peripheral neuropathy. People diagnosed with peripheral neuropathy need more frequent foot exams. A comprehensive foot exam assesses the skin, muscles, bones, circulation, and sensation of the feet. The doctor may assess protective sensation or feeling in the feet by touching them with a nylon monofilamentsimilar to a bristle on a hairbrushattached to a wand or by pricking them with a pin. People who cannot sense pressure from a pinprick or monofilament have lost protective sensation and are at risk for developing foot sores that may not heal properly. The doctor may also check temperature perception or use a tuning fork, which is more sensitive than touch pressure, to assess vibration perception.

Other Tests

The doctor may perform other tests as part of the diagnosis.

- Nerve conduction studies or electromyography are sometimes used to help determine the type and extent of nerve damage. Nerve conduction studies check the transmission of electrical current through a nerve. Electromyography shows how well muscles respond to electrical signals transmitted by nearby nerves. These tests are rarely needed to diagnose neuropathy.  - A check of heart rate variability shows how the heart responds to deep breathing and to changes in blood pressure and posture.  - Ultrasound uses sound waves to produce an image of internal organs. An ultrasound of the bladder and other parts of the urinary tract, for example, can be used to assess the structure of these organs and show whether the bladder empties completely after urination.


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[User] What causes Thyroglossal tract cyst ?

[Assistant] Can thyroglossal duct cysts cause weight loss? Weight loss is not commonly cited as a specific symptom of thyroglossal duct cysts, however large cysts can cause difficulty swallowing and breathing. Infected cysts may be tender with associated difficulty in swallowing, loss of voice, fever, and increasing mass size. Some patients with an infected cyst experience drainage which can result in a foul taste in the mouth. These symptoms may make feedings difficult and unpleasant. We recommend you speak with your childs healthcare provider regarding his symptom.


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[User] What causes Fecal Incontinence ?

[Assistant]
Fecal incontinence has many causes, including

- diarrhea  - constipation  - muscle damage or weakness  - nerve damage  - loss of stretch in the rectum  - childbirth by vaginal delivery  - hemorrhoids and rectal prolapse  - rectocele  - inactivity

Diarrhea

Diarrhea can cause fecal incontinence. Loose stools fill the rectum quickly and are more difficult to hold than solid stools. Diarrhea increases the chance of not reaching a bathroom in time.

Constipation

Constipation can lead to large, hard stools that stretch the rectum and cause the internal sphincter muscles to relax by reflex. Watery stool builds up behind the hard stool and may leak out around the hard stool, leading to fecal incontinence.

The type of constipation that is most likely to lead to fecal incontinence occurs when people are unable to relax their external sphincter and pelvic floor muscles when straining to have a bowel movement, often mistakenly squeezing these muscles instead of relaxing them. This squeezing makes it difficult to pass stool and may lead to a large amount of stool in the rectum. This type of constipation, called dyssynergic defecation or disordered defecation, is a result of faulty learning. For example, children or adults who have pain when having a bowel movement may unconsciously learn to squeeze their muscles to delay the bowel movement and avoid pain.

Muscle Damage or Weakness

Injury to one or both of the sphincter muscles can cause fecal incontinence. If these muscles, called the external and internal anal sphincter muscles, are damaged or weakened, they may not be strong enough to keep the anus closed and prevent stool from leaking.

Trauma, childbirth injuries, cancer surgery, and hemorrhoid surgery are possible causes of injury to the sphincters. Hemorrhoids are swollen blood vessels in and around the anus and lower rectum.

Nerve Damage

The anal sphincter muscles wont open and close properly if the nerves that control them are damaged. Likewise, if the nerves that sense stool in the rectum are damaged, a person may not feel the urge to go to the bathroom. Both types of nerve damage can lead to fecal incontinence. Possible sources of nerve damage are childbirth; a long-term habit of straining to pass stool; spinal cord injury; and diseases, such as diabetes and multiple sclerosis, that affect the nerves that go to the sphincter muscles and rectum. Brain injuries from stroke, head trauma, or certain diseases can also cause fecal incontinence.

Loss of Stretch in the Rectum

Normally, the rectum stretches to hold stool until a person has a bowel movement. Rectal surgery, radiation treatment, and inflammatory bowel diseaseschronic disorders that cause irritation and sores on the lining of the digestive systemcan cause the rectal walls to become stiff. The rectum then cant stretch as much to hold stool, increasing the risk of fecal incontinence.

Childbirth by Vaginal Delivery

Childbirth sometimes causes injuries to muscles and nerves in the pelvic floor. The risk is greater if forceps are used to help deliver the baby or if an episiotomya cut in the vaginal area to prevent the babys head from tearing the vagina during birthis performed. Fecal incontinence related to childbirth can appear soon after delivery or many years later.

Hemorrhoids and Rectal Prolapse

External hemorrhoids, which develop under the skin around the anus, can prevent the anal sphincter muscles from closing completely. Rectal prolapse, a condition that causes the rectum to drop down through the anus, can also prevent the anal sphincter muscles from closing well enough to prevent leakage. Small amounts of mucus or liquid stool can then leak through the anus.

Rectocele

Rectocele is a condition that causes the rectum to protrude through the vagina. Rectocele can happen when the thin layer of muscles separating the rectum from the vagina becomes weak. For women with rectocele, straining to have a bowel movement may be less effective because rectocele reduces the amount of downward force through the anus. The result may be retention of stool in the rectum. More research is needed to be sure rectocele increases the risk of fecal incontinence.

Inactivity

People who are inactive, especially those who spend many hours a day sitting or lying down, have an increased risk of retaining a large amount of stool in the rectum. Liquid stool can then leak around the more solid stool. Frail, older adults are most likely to develop constipation-related fecal incontinence for this reason.


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[User] Is neuroferritinopathy 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 most cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.


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[User] How to diagnose Multifocal choroiditis ?

[Assistant] How is multifocal choroiditis diagnosed? Multifocal choroiditis (MFC) is diagnosed by an ophthalmologist, using a series of imaging techniques. A test called flourescein angiography uses a special dye and camera to study blood flow in the back layers of the eye. When a person has MFC, lesions in the eye will appear as fluorescent spots. Vision tests may also show an enlarged blind spot or a decrease in visual clarity. Often, doctors may order blood tests to check if the symptoms are caused by a viral disease rather than MFC.