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What are the treatments for Adult Primary Liver Cancer ?
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Key Points
- There are different types of treatment for patients with adult primary liver cancer. - Patients with liver cancer are treated by a team of specialists who are experts in treating liver cancer. - Seven types of standard treatment are used: - Surveillance - Surgery - Liver transplant - Ablation therapy - Embolization therapy - Targeted therapy - Radiation therapy - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their cancer treatment. - Follow-up tests may be needed.
There are different types of treatment for patients with adult primary liver cancer.
Different types of treatments are available for patients with adult primary liver cancer. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment.
Patients with liver cancer are treated by a team of specialists who are experts in treating liver cancer.
The patient's treatment will be overseen by a medical oncologist, a doctor who specializes in treating people with cancer. The medical oncologist may refer the patient to other health professionals who have special training in treating patients with liver cancer. These may include the following specialists: - Hepatologist (specialist in liver disease). - Surgical oncologist. - Transplant surgeon. - Radiation oncologist. - Interventional radiologist (a specialist who diagnoses and treats diseases using imaging and the smallest incisions possible). - Pathologist.
Seven types of standard treatment are used:
Surveillance Surveillance for lesions smaller than 1 centimeter found during screening. Follow-up every three months is common. Surgery A partial hepatectomy (surgery to remove the part of the liver where cancer is found) may be done. A wedge of tissue, an entire lobe, or a larger part of the liver, along with some of the healthy tissue around it is removed. The remaining liver tissue takes over the functions of the liver and may regrow. Liver transplant In a liver transplant, the entire liver is removed and replaced with a healthy donated liver. A liver transplant may be done when the disease is in the liver only and a donated liver can be found. If the patient has to wait for a donated liver, other treatment is given as needed. Ablation therapy Ablation therapy removes or destroys tissue. Different types of ablation therapy are used for liver cancer: - Radiofrequency ablation: The use of special needles that are inserted directly through the skin or through an incision in the abdomen to reach the tumor. High-energy radio waves heat the needles and tumor which kills cancer cells. - Microwave therapy: A type of treatment in which the tumor is exposed to high temperatures created by microwaves. This can damage and kill cancer cells or make them more sensitive to the effects of radiation and certain anticancer drugs. - Percutaneous ethanol injection: A cancer treatment in which a small needle is used to inject ethanol (pure alcohol) directly into a tumor to kill cancer cells. Several treatments may be needed. Usually local anesthesia is used, but if the patient has many tumors in the liver, general anesthesia may be used. - Cryoablation: A treatment that uses an instrument to freeze and destroy cancer cells. This type of treatment is also called cryotherapy and cryosurgery. The doctor may use ultrasound to guide the instrument. - Electroporation therapy: A treatment that sends electrical pulses through an electrode placed in a tumor to kill cancer cells. Electroporation therapy is being studied in clinical trials. Embolization therapy Embolization therapy is the use of substances to block or decrease the flow of blood through the hepatic artery to the tumor. When the tumor does not get the oxygen and nutrients it needs, it will not continue to grow. Embolization therapy is used for patients who cannot have surgery to remove the tumor or ablation therapy and whose tumor has not spread outside the liver. The liver receives blood from the hepatic portal vein and the hepatic artery. Blood that comes into the liver from the hepatic portal vein usually goes to the healthy liver tissue. Blood that comes from the hepatic artery usually goes to the tumor. When the hepatic artery is blocked during embolization therapy, the healthy liver tissue continues to receive blood from the hepatic portal vein. There are two main types of embolization therapy: - Transarterial embolization (TAE): A small incision (cut) is made in the inner thigh and a catheter (thin, flexible tube) is inserted and threaded up into the hepatic artery. Once the catheter is in place, a substance that blocks the hepatic artery and stops blood flow to the tumor is injected. - Transarterial chemoembolization (TACE): This procedure is like TAE except an anticancer drug is also given. The procedure can be done by attaching the anticancer drug to small beads that are injected into the hepatic artery or by injecting the anticancer drug through the catheter into the hepatic artery and then injecting the substance to block the hepatic artery. Most of the anticancer drug is trapped near the tumor and only a small amount of the drug reaches other parts of the body. This type of treatment is also called chemoembolization. Targeted therapy Targeted therapy is a treatment that uses drugs or other substances to identify and attack specific cancer cells without harming normal cells. Adult liver cancer may be treated with a targeted therapy drug that stops cells from dividing and prevents the growth of new blood vessels that tumors need to grow. See Drugs Approved for Liver Cancer for more information. Radiation therapy Radiation therapy is a cancer treatment that uses high-energy x-rays or other types of radiation to kill cancer cells or keep them from growing. There are two types of radiation therapy: - External radiation therapy uses a machine outside the body to send radiation toward the cancer. Certain ways of giving radiation therapy can help keep radiation from damaging nearby healthy tissue. These types of external radiation therapy include the following: - Conformal radiation therapy: Conformal radiation therapy is a type of external radiation therapy that uses a computer to make a 3-dimensional (3-D) picture of the tumor and shapes the radiation beams to fit the tumor. This allows a high dose of radiation to reach the tumor and causes less damage to nearby healthy tissue. - Stereotactic body radiation therapy: Stereotactic body radiation therapy is a type of external radiation therapy. Special equipment is used to place the patient in the same position for each radiation treatment. Once a day for several days, a radiation machine aims a larger than usual dose of radiation directly at the tumor. By having the patient in the same position for each treatment, there is less damage to nearby healthy tissue. This procedure is also called stereotactic external-beam radiation therapy and stereotaxic radiation therapy. - Proton beam radiation therapy: Proton-beam therapy is a type of high-energy, external radiation therapy. A radiation therapy machine aims streams of protons (tiny, invisible, positively-charged particles) at the cancer cells to kill them. This type of treatment causes less damage to nearby healthy tissue. - Internal radiation therapy uses a radioactive substance sealed in needles, seeds, wires, or catheters that are placed directly into or near the cancer. The way the radiation therapy is given depends on the type and stage of the cancer being treated. External radiation therapy is used to treat adult primary liver cancer.
New types of treatment are being tested in clinical trials.
Information about clinical trials is available from the NCI website.
Patients may want to think about taking part in a clinical trial.
For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.
Patients can enter clinical trials before, during, or after starting their cancer treatment.
Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.
Follow-up tests may be needed.
Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups.
Treatment Options for Adult Primary Liver Cancer
Stages 0, A, and B Adult Primary Liver Cancer
Treatment of stages 0, A, and B adult primary liver cancer may include the following: - Surveillance for lesions smaller than 1 centimeter. - Partial hepatectomy. - Total hepatectomy and liver transplant. - Ablation of the tumor using one of the following methods: - Radiofrequency ablation. - Microwave therapy. - Percutaneous ethanol injection. - Cryoablation. - A clinical trial of electroporation therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage 0 adult primary liver cancer (BCLC), stage A adult primary liver cancer (BCLC) and stage B adult primary liver cancer (BCLC). For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.
Stages C and D Adult Primary Liver Cancer
Treatment of stages C and D adult primary liver cancer may include the following: - Embolization therapy using one of the following methods: - Transarterial embolization (TAE). - Transarterial chemoembolization (TACE). - Targeted therapy. - Radiation therapy. - A clinical trial of targeted therapy after chemoembolization or combined with chemotherapy. - A clinical trial of new targeted therapy drugs. - A clinical trial of targeted therapy with or without stereotactic body radiation therapy. - A clinical trial of stereotactic body radiation therapy or proton-beam radiation therapy. Check the list of NCI-supported cancer clinical trials that are now accepting patients with stage C adult primary liver cancer (BCLC) and stage D adult primary liver cancer (BCLC). For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.
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] |
What are the symptoms of Familial hyperinsulinism ?
|
What are the signs and symptoms of Familial hyperinsulinism? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hyperinsulinism. 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 pancreas 90% Hyperinsulinemia 90% Hypoglycemia 90% Autosomal dominant inheritance - Autosomal recessive inheritance - Heterogeneous - Hyperinsulinemic hypoglycemia - Hypoglycemic coma - Hypoglycemic seizures - Intellectual disability - Large for gestational age - Pancreatic islet-cell hyperplasia - 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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] |
How to diagnose Sleep Apnea ?
|
Doctors diagnose sleep apnea based on medical and family histories, a physical exam, and sleep study results. Your primary care doctor may evaluate your symptoms first. He or she will then decide whether you need to see a sleep specialist.
Sleep specialists are doctors who diagnose and treat people who have sleep problems. Examples of such doctors include lung and nerve specialists and ear, nose, and throat specialists. Other types of doctors also can be sleep specialists.
Medical and Family Histories
If you think you have a sleep problem, consider keeping a sleep diary for 1 to 2 weeks. Bring the diary with you to your next medical appointment.
Write down when you go to sleep, wake up, and take naps. Also write down how much you sleep each night, how alert and rested you feel in the morning, and how sleepy you feel at various times during the day. This information can help your doctor figure out whether you have a sleep disorder.
You can find a sample sleep diary in the National Heart, Lung, and Blood Institute's "Your Guide to Healthy Sleep."
At your appointment, your doctor will ask you questions about how you sleep and how you function during the day.
Your doctor also will want to know how loudly and often you snore or make gasping or choking sounds during sleep. Often you're not aware of such symptoms and must ask a family member or bed partner to report them.
Let your doctor know if anyone in your family has been diagnosed with sleep apnea or has had symptoms of the disorder.
Many people aren't aware of their symptoms and aren't diagnosed.
If you're a parent of a child who may have sleep apnea, tell your child's doctor about your child's signs and symptoms.
Physical Exam
Your doctor will check your mouth, nose, and throat for extra or large tissues. Children who have sleep apnea might have enlarged tonsils. Doctors may need only a physical exam and medical history to diagnose sleep apnea in children.
Adults who have sleep apnea may have an enlarged uvula (U-vu-luh) or soft palate. The uvula is the tissue that hangs from the middle of the back of your mouth. The soft palate is the roof of your mouth in the back of your throat.
Sleep Studies
Sleep studies are tests that measure how well you sleep and how your body responds to sleep problems. These tests can help your doctor find out whether you have a sleep disorder and how severe it is. Sleep studies are the most accurate tests for diagnosing sleep apnea.
There are different kinds of sleep studies. If your doctor thinks you have sleep apnea, he or she may recommend a polysomnogram (poly-SOM-no-gram; also called a PSG) or a home-based portable monitor.
Polysomnogram
A PSG is the most common sleep study for diagnosing sleep apnea. This study records brain activity, eye movements, heart rate, and blood pressure.
A PSG also records the amount of oxygen in your blood, air movement through your nose while you breathe, snoring, and chest movements. The chest movements show whether you're making an effort to breathe.
PSGs often are done at sleep centers or sleep labs. The test is painless. You'll go to sleep as usual, except you'll have sensors attached to your scalp, face, chest, limbs, and a finger. The staff at the sleep center will use the sensors to check on you throughout the night.
A sleep specialist will review the results of your PSG to see whether you have sleep apnea and how severe it is. He or she will use the results to plan your treatment.
Your doctor also may use a PSG to find the best setting for you on a CPAP (continuous positive airway pressure) machine. CPAP is the most common treatment for sleep apnea. A CPAP machine uses mild air pressure to keep your airway open while you sleep.
If your doctor thinks that you have sleep apnea, he or she may schedule a split-night sleep study. During the first half of the night, your sleep will be checked without a CPAP machine. This will show whether you have sleep apnea and how severe it is.
If the PSG shows that you have sleep apnea, youll use a CPAP machine during the second half of the split-night study. The staff at the sleep center will adjust the flow of air from the CPAP machine to find the setting that works best for you.
Home-Based Portable Monitor
Your doctor may recommend a home-based sleep test with a portable monitor. The portable monitor will record some of the same information as a PSG. For example, it may record:
The amount of oxygen in your blood
Air movement through your nose while you breathe
Your heart rate
Chest movements that show whether you're making an effort to breathe
A sleep specialist may use the results from a home-based sleep test to help diagnose sleep apnea. He or she also may use the results to decide whether you need a full PSG study in a sleep center.
|
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] |
Is mucolipidosis III gamma inherited ?
|
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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What are the treatments for mitochondrial neurogastrointestinal encephalopathy disease ?
|
These resources address the diagnosis or management of MNGIE disease: - Gene Review: Gene Review: Mitochondrial Neurogastrointestinal Encephalopathy Disease - Genetic Testing Registry: Myoneural gastrointestinal encephalopathy syndrome - MedlinePlus Encyclopedia: Leukoencephalopathy (image) These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
|
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What are the symptoms of Presenile dementia, Kraepelin type ?
|
What are the signs and symptoms of Presenile dementia, Kraepelin type? The Human Phenotype Ontology provides the following list of signs and symptoms for Presenile dementia, Kraepelin 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) Autosomal dominant inheritance - Dementia - 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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What are the symptoms of Lupus Nephritis ?
|
The symptoms of lupus nephritis may include high blood pressure, foamy urine, and edemaswelling, usually in the legs, feet, or ankles and less often in the hands or face.
Kidney problems often develop at the same time or shortly after lupus symptoms appear and can include
- joint pain or swelling - muscle pain - fever with no known cause - red rashes, often on the face, which are also called butterfly rashes because of their shape
|
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What is (are) Schwannomatosis ?
|
Schwannomatosis is a rare form of neurofibromatosis that is primarily characterized by multiple schwannomas (benign tumors of the nervous system) in the absence of bilateral (affecting both sides) vestibular schwannomas. Signs and symptoms of the condition vary based on the size, location and number of schwannomas but may include pain; numbness; tingling; and/or weakness in the fingers and toes. Inherited forms of the disorder account for only 15 percent of all cases. In some of these families, schwannomatosis is caused by changes (mutations) in the SMARCB1 or LZTR1 genes; in other cases, the exact underlying cause is unknown. When inherited, the condition is passed down in an autosomal dominant manner with highly variable expressivity and reduced penetrance. Treatment is based on the signs and symptoms present in each person but may include medications and/or surgery.
|
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What are the genetic changes related to myostatin-related muscle hypertrophy ?
|
Mutations in the MSTN gene cause myostatin-related muscle hypertrophy. The MSTN gene provides instructions for making a protein called myostatin, which is active in muscles used for movement (skeletal muscles) both before and after birth. This protein normally restrains muscle growth, ensuring that muscles do not grow too large. Mutations that reduce the production of functional myostatin lead to an overgrowth of muscle tissue.
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What are the symptoms of Partington syndrome ?
|
What are the signs and symptoms of Partington syndrome? The signs and symptoms of Partington syndrome vary but may include: Mild to moderate intellectual disability Behavioral issues Dystonia, especially affecting the movement of the hands Dysarthria Abnormal gait (style of walking) Recurrent seizures Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. The Human Phenotype Ontology provides the following list of signs and symptoms for Partington syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Delayed speech and language development - Dysarthria - EEG abnormality - Flexion contracture - Focal dystonia - Intellectual disability - Limb dystonia - Lower limb spasticity - Seizures - Triangular face - X-linked recessive inheritance - 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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What is (are) Sialadenitis ?
|
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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What are the treatments for Kyrle disease ?
|
How might Kyrle disease be treated? Kyrle disease is most often associated with a systemic disorder, although idiopathic cases without any associated disease have occurred. Therefore, treatment is typically directed toward the underlying condition when appropriate. For individuals in whom itching is a major problem, soothing antipruritic lotions containing menthol and camphor may be helpful. Sedating antihistamines such as hydroxyzine may also be helpful for pruritus, especially at night. Some improvement has been reported with high doses of vitamin A, with or without vitamin E. Topical retinoic acid cream may also improve the symptoms. Another approach to treatment uses oral retinoids, which resulted in alleviation of symptoms in one study. Etretinate in high doses is also reportedly effective, but relapse has been reported following discontinuation of therapy. UV light therapy is reportedly particularly helpful for individuals with widespread lesions or coexisting pruritus from renal or hepatic disease. Carbon dioxide laser or cryosurgery may be helpful for limited lesions, but caution may be recommended for individuals with dark skin, especially with cryosurgery, and for lesions on the lower legs, particularly in patients with diabetes mellitus or poor circulation.
|
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What are the treatments for Encephaloceles ?
|
Generally, surgery is performed during infancy to place the protruding tissues back into the skull, remove the sac, and correct the associated craniofacial abnormalities. Even large protrusions can often be removed without causing major functional disability. Hydrocephalus associated with encephaloceles may require surgical treatment with a shunt. Other treatment is symptomatic and supportive.
|
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] |
How to diagnose Crohn's Disease ?
|
A health care provider diagnoses Crohn's disease with the following:
- medical and family history - physical exam - lab tests - upper GI series - computerized tomography (CT) scan - intestinal endoscopy
The health care provider may perform a series of medical tests to rule out other bowel diseases, such as irritable bowel syndrome, ulcerative colitis, or celiac disease, that cause symptoms similar to those of Crohn's disease.
Medical and Family History
Taking a medical and family history can help a health care provider diagnose Crohn's disease and understand a patient's symptoms. He or she will ask the patient to describe his or her
- family history - symptoms - current and past medical conditions - current medications
Physical Exam
A physical exam may help diagnose Crohn's disease. During a physical exam, the health care provider most often
- checks for abdominal distension, or swelling - listens to sounds within the abdomen using a stethoscope - taps on the abdomen to check for tenderness and pain and establish if the liver or spleen is abnormal or enlarged
Lab Tests
A health care provider may order lab tests, including blood and stool tests.
Blood tests. A blood test involves drawing blood at a health care provider's office or a lab. A lab technologist will analyze the blood sample. A health care provider may use blood tests to look for changes in
- red blood cells. When red blood cells are fewer or smaller than normal, a patient may have anemia. - white blood cells. When the white blood cell count is higher than normal, a person may have inflammation or infection somewhere in his or her body.
Stool tests. A stool test is the analysis of a sample of stool. A health care provider will give the patient a container for catching and storing the stool at home. The patient returns the sample to the health care provider or to a lab. A lab technologist will analyze the stool sample. Health care providers commonly order stool tests to rule out other causes of GI diseases.
Upper Gastrointestinal Series
An 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 radiologista doctor who specializes in medical imaginginterprets the images.
This test does not require anesthesia. A patient should not eat or drink before the procedure, as directed by the health care provider. Patients should ask their health care provider about how to prepare for an upper GI series.
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.
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 contrast medium. CT scans require the patient to lie on a table that slides into a tunnel-shaped device where the x-rays are taken. 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 diagnose both Crohn's disease and the complications seen with the disease.
Intestinal Endoscopy
Intestinal endoscopies are the most accurate methods for diagnosing Crohn's disease and ruling out other possible conditions, such as ulcerative colitis, diverticular disease, or cancer. Intestinal endoscopies include
- upper GI endoscopy and enteroscopy - capsule endoscopy - colonoscopy
Upper GI endoscopy and enteroscopy. An upper GI endoscopy is a procedure that uses an endoscopea small, flexible tube with a lightto directly visualize the lining of the upper GI tract. A health care provider performs the procedure at a hospital or an outpatient center. A nurse or technician may give the patient a liquid anesthetic to gargle or will spray the anesthetic on the back of a patient's throat. The anesthetic numbs the throat and calms the gag reflex. The nurse or technician will then place an intravenous (IV) needle in the person's arm or hand to provide a sedative. The health care provider carefully feeds the endoscope down the patient's esophagus and into the stomach. A small camera on the endoscope sends a video image to a monitor, allowing close examination of the GI tract.
During an enteroscopy, the health care provider examines the small intestine with a special, longer endoscope. The health care provider carefully feeds the endoscope into the small intestine using one of the following procedures:
- push enteroscopy, which uses a long endoscope to examine the upper portion of the small intestine - single- or double-balloon enteroscopy, which use small balloons to help move the endoscope into the small intestine - spiral enteroscopy, which uses a tube attached to an endocope that acts as a cork screw to move the instrument into the small intestine
The procedure most often takes between 15 and 60 minutes. The endoscope does not interfere with the patient's breathing, and many patients fall asleep during the procedure.
Capsule endoscopy. Although this procedure can examine the entire digestive tract, health care providers use it mostly to examine the small intestine. The patient swallows a capsule containing a tiny camera. As the capsule passes through the GI tract, the camera will record and transmit images to a small receiver device worn by the patient. When the recording is done, the health care provider downloads the images and reviews them on a video monitor. The camera capsule leaves the patient's body during a bowel movement and is safely flushed down the toilet.
Colonoscopy. Colonoscopy is a test that uses a long, flexible, narrow tube with a light and tiny camera on one end, called a colonoscope or scope, to look inside a patient's rectum and entire colon. In most cases, light anesthesia and pain medication help patients relax for the test. The medical staff will monitor a patient's vital signs and try to make him or her as comfortable as possible. A nurse or technician will place an IV needle in a vein in the patient's arm or hand to give anesthesia.
For the test, the patient will lie on a table or stretcher while the gastroenterologist inserts a colonoscope into the patient's anus and slowly guides it through the rectum and into the colon. The scope inflates the large intestine with air to give the gastroenterologist a better view. The camera sends a video image of the intestinal lining to a monitor, allowing the gastroenterologist to examine the tissues lining the colon and rectum. The gastroenterologist may move the patient several times and adjust the scope for better viewing. Once the scope has reached the opening to the small intestine, the gastroenterologist slowly withdraws it and examines the lining of the colon and rectum again.
A colonoscopy can show inflamed and swollen tissue, ulcers, and abnormal growths such as polypsextra pieces of tissue that grow on the inner lining of the intestine. If the gastroenterologist suspects Crohn's disease, he or she will biopsy the patient's colon and rectum. A biopsy is a procedure that involves taking small pieces of tissue for examination with a microscope.
A health care provider will give patients written bowel prep instructions to follow at home before the test. The health care provider will also give patients information about how to care for themselves following the procedure.
|
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] |
How to diagnose Von Hippel-Lindau disease ?
|
How is von Hippel-Lindau (VHL) disease diagnosed? The diagnosis of von Hippel-Lindau (VHL) disease can be made based on specific clinical criteria (signs and symptoms), or when molecular genetic testing reveals a mutation in the VHL gene. Tests that may be used to establish a clinical diagnosis include: MRI of the brain and spinal cord fundoscopy ultrasound examination or MRI of the abdomen blood and urinary catecholamine metabolites.
|
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] |
What are the treatments for aromatase excess syndrome ?
|
These resources address the diagnosis or management of aromatase excess syndrome: - Genetic Testing Registry: Familial gynecomastia, due to increased aromatase activity 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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What are the symptoms of Urine Blockage in Newborns ?
|
Before leaving the hospital, a baby with urine blockage may urinate only small amounts or may not urinate at all. As part of the routine newborn exam, the health care provider may feel an enlarged kidney or find a closed urethra, which may indicate urine blockage. Sometimes urine blockage is not apparent until a child develops symptoms of a urinary tract infection (UTI), including
- fever - irritability - not eating - nausea - diarrhea - vomiting - cloudy, dark, bloody, or foul-smelling urine - urinating often
If these symptoms persist, the child should see a health care provider. A child 2 months of age or younger with a fever should see a health care provider immediately. The health care provider will ask for a urine sample to test for bacteria.
|
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] |
What are the treatments for Sprengel deformity ?
|
How might Sprengel deformity be treated? Treatment of Sprengel deformity depends on the degree of functional impairment and/or cosmetic disfigurement. Many people with Sprengel deformity do not need surgery and may have physical therapy to maintain range of motion and strengthen weak muscles. For those who do require surgery, the goals are to release the binding of the scapula and relocate the scapula. Surgery can improve the cosmetic appearance and contour of the neck, and improve the scapular function when it is severely impaired. However, the ability to increase shoulder abduction is limited. For surgical indication, many experts refer to the Cavendish classification - one method used for grading the severity of Sprengel deformity. This method classifies the condition into grades I through IV, with grade I being the most mild (almost invisible when covered with clothes) and grade IV being the most severe (with over 5 centimeters of elevation of the shoulder, and neck webbing). Although no improvement or worsening has been reported in untreated grade I and II cases, surgery is recommended in grade III and IV deformities. However, the Cavendish classification may be subjective and inaccurate since it is based on the structure of the deformity (rather than function) and aesthetic criteria. The optimal age for surgery is controversial, but most experts recommend that it be done before age 8 to obtain the best surgical result. There are several surgical options that may be considered depending on each person's situation. Many of the surgical procedures for Sprengel deformity leave unsightly scars, so the cosmetic improvement must be carefully considered.
|
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What are the symptoms of Polycystic kidney disease ?
|
What are the signs and symptoms of Polycystic kidney disease? Signs and symptoms vary greatly from person to person. But affected individuals typically develop multiple cysts in both kidneys, which impair their ability to filter waste products from the blood. Later in the disease, the cysts cause the kidneys to become enlarged and can lead to kidney failure. Cysts may also develop in other organs, particularly the liver. Frequent complications of polycystic kidney disease include dangerously high blood pressure (hypertension), severe pain in the back or sides, blood in the urine (hematuria), recurrent urinary tract infections, kidney stones, and heart valve abnormalities. People with this condition also have an increased risk an aortic aneurysm in the brain (an abnormal bulging of the large blood vessel at the base of the brain). Aneurysms can be life-threatening if they tear or rupture. The Human Phenotype Ontology provides the following list of signs and symptoms for Polycystic kidney 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) Polycystic kidney dysplasia 90% Anemia 50% Cystic liver disease 50% Hematuria 50% Hypertension 50% Nephrolithiasis 50% Proteinuria 50% Renal insufficiency 50% Abnormality of prenatal development or birth 7.5% Abnormality of the pancreas 7.5% Abnormality of the respiratory system 7.5% Aneurysm 7.5% Dilatation of the ascending aorta 7.5% Hydrocephalus 7.5% Recurrent fractures 7.5% Reduced bone mineral density 7.5% Sarcoma 7.5% Autosomal dominant inheritance - Cerebral aneurysm - Colonic diverticula - Hepatic cysts - Heterogeneous - Increased prevalence of valvular disease - 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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What causes Depression ?
|
Several lines of research have shown that depressive illnesses are disorders of the brain. But the exact causes for these illnesses are not yet clear and are still being studied. Changes in the Brain Imaging technologies show that the brains of people with depression look different or are working differently than those who do not have the illness. The areas of the brain that control moods, thinking, sleep, appetite, and behavior appear not to be functioning well. The scans also show very high or very low levels of important brain chemicals. But these images do not reveal WHY the depression has occurred. Many Possible Causes In general, there is no one cause or risk factor for depression. It most likely results from many factors, such as family history, life experiences, and environment. Older adults with depression may have had it when they were younger, or they may have a family history of the illness. They may also be going through difficult life events, such as losing a loved one, a difficult relationship with a family member or friend, or financial troubles. For older adults who experience depression for the first time later in life, other factors may be at play. Depression may be related to changes that occur in the brain and body as a person ages. For example, some older adults who are at risk for illnesses such as heart disease or stroke may have hardening and inflammation of the blood vessels, and blood may not be able to flow normally to the body's organs, including the brain. Over time, this blood vessel disease and restricted blood flow can damage nearby brain tissue and harm the nerve connections that help different parts of the brain communicate with each other. If this happens, an older adult with no family history of depression may develop what some doctors call "vascular depression." Older adults may also experience depression as a result of brain changes caused by illnesses such as Alzheimers disease or Parkinsons disease. This type of depression can appear in the early stages of these diseases, before many symptoms appear. Depression Can Occur With Other Illnesses Depression can also co-occur with other serious medical illnesses such as diabetes, cancer, and Parkinson's disease. Depression can make these conditions worse, and vice versa. Sometimes, medications taken for these illnesses may cause side effects that contribute to depression. Because many older adults face these illnesses along with various social and economic difficulties, some health care professionals may wrongly conclude that these problems are the cause of the depression -- an opinion often shared by patients themselves. All these factors can cause depression to go undiagnosed or untreated in older people. Yet, treating the depression will help an older adult better manage other conditions he or she may have.
|
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] |
What are the symptoms of Kidney Dysplasia ?
|
Many babies with kidney dysplasia in only one kidney have no signs of the condition. In some cases, the affected kidney may be enlarged at birth and may cause pain.
|
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] |
What are the genetic changes related to mucolipidosis type IV ?
|
Mutations in the MCOLN1 gene cause mucolipidosis type IV. This gene provides instructions for making a protein called mucolipin-1. This protein is located in the membranes of lysosomes and endosomes, compartments within the cell that digest and recycle materials. While its function is not completely understood, mucolipin-1 plays a role in the transport (trafficking) of fats (lipids) and proteins between lysosomes and endosomes. Mucolipin-1 appears to be important for the development and maintenance of the brain and retina. In addition, this protein is likely critical for normal functioning of the cells in the stomach that produce digestive acids. Most mutations in the MCOLN1 gene result in the production of a nonfunctional protein or prevent any protein from being produced. A lack of functional mucolipin-1 impairs transport of lipids and proteins, causing these substances to build up inside lysosomes. Conditions that cause molecules to accumulate inside the lysosomes, including mucolipidosis type IV, are called lysosomal storage disorders. Two mutations in the MCOLN1 gene account for almost all cases of mucolipidosis type IV in people with Ashkenazi Jewish ancestry. It remains unclear how mutations in this gene lead to the signs and symptoms of mucolipidosis type IV.
|
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] |
What is (are) Hemophagocytic lymphohistiocytosis ?
|
Hemophagocytic lymphohistiocytosis (HLH) is a condition in which the body makes too many activated immune cells (macrophages and lymphocytes). People with HLH usually develop symptoms within the first months or years of life which may include fever, enlarged liver or spleen, cytopenia (lower-than-normal number of blood cells), and neurological abnormalities. HLH may be inherited in an autosomal recessive manner or it can have non-genetic causes in which case it is called acquired HLH. There are five subtypes of inherited HLH which are designated familial HLH, types 1-5. Each subtype is caused by a change (mutation) in a different gene. The genetic cause of type 1 is currently unknown. Types 2-5 are caused by mutations in the PRF1 gene, the UNC13D gene, the STX11 gene and the STXBP2 gene, respectively. Treatment depends on a number of factors, including the severity of symptoms, the age of onset, and the underlying cause of the condition.
|
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What is (are) Rh deficiency syndrome ?
|
The Rh deficiency syndrome, also known as Rh-null syndrome, is a blood disorder where people have red blood cells (RBCs) lacking all Rh antigens. The Rh antigens maintain the integrity of the RBC membrane and therefore, RBCs which lack Rh antigens have an abnormal shape. There are two types of Rh deficiency syndrome: The regulator type is associated with many different changes (mutations) in the RHAG gene . The amorph type is caused by inactive copies of a gene (silent alleles) at the RH locus. As a result, the RBCs do not express any of the Rh antigens. The absence of the Rh complex alters the RBC shape, increases its tendency to break down (osmotic fragility), and shortens its lifespan, resulting in a hemolytic anemia that is usually mild. These patients are at risk of having adverse transfusion reactions because they may produce antibodies against several of the Rh antigens and can only receive blood from people who have the same condition. Rh deficiency syndrome is inherited in an autosomal recessive manner. Management is individualized according to the severity of hemolytic anemia.
|
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What are the treatments for familial Mediterranean fever ?
|
These resources address the diagnosis or management of familial Mediterranean fever: - Gene Review: Gene Review: Familial Mediterranean Fever - Genetic Testing Registry: Familial Mediterranean fever 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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What are the treatments for congenital hypothyroidism ?
|
These resources address the diagnosis or management of congenital hypothyroidism: - Baby's First Test - Genetic Testing Registry: Congenital hypothyroidism - Genetic Testing Registry: Hypothyroidism, congenital, nongoitrous, 1 - MedlinePlus Encyclopedia: Congenital Hypothyroidism 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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What are the treatments for Hypoglycemia ?
|
Signs and symptoms of hypoglycemia vary from person to person. People with diabetes should get to know their signs and symptoms and describe them to their friends and family so they can help if needed. School staff should be told how to recognize a child's signs and symptoms of hypoglycemia and how to treat it.
People who experience hypoglycemia several times in a week should call their health care provider. They may need a change in their treatment plan: less medication or a different medication, a new schedule for insulin or medication, a different meal plan, or a new physical activity plan.
Prompt Treatment for Hypoglycemia
When people think their blood glucose is too low, they should check the blood glucose level of a blood sample using a meter. If the level is below 70 mg/dL, one of these quick-fix foods should be consumed right away to raise blood glucose:
- 3 or 4 glucose tablets - 1 serving of glucose gelthe amount equal to 15 grams of carbohydrate - 1/2 cup, or 4 ounces, of any fruit juice - 1/2 cup, or 4 ounces, of a regularnot dietsoft drink - 1 cup, or 8 ounces, of milk - 5 or 6 pieces of hard candy - 1 tablespoon of sugar or honey
Recommended amounts may be less for small children. The child's doctor can advise about the right amount to give a child.
The next step is to recheck blood glucose in 15 minutes to make sure it is 70 mg/dL or above. If it's still too low, another serving of a quick-fix food should be eaten. These steps should be repeated until the blood glucose level is 70 mg/dL or above. If the next meal is an hour or more away, a snack should be eaten once the quick-fix foods have raised the blood glucose level to 70 mg/dL or above.
For People Who Take Acarbose (Precose) or Miglitol (Glyset)
People who take either of these diabetes medications should know that only pure glucose, also called dextroseavailable in tablet or gel formwill raise their blood glucose level during a low blood glucose episode. Other quick-fix foods and drinks won't raise the level quickly enough because acarbose and miglitol slow the digestion of other forms of carbohydrate.
Help from Others for Severe Hypoglycemia
Severe hypoglycemiavery low blood glucosecan cause a person to pass out and can even be life threatening. Severe hypoglycemia is more likely to occur in people with type 1 diabetes. People should ask a health care provider what to do about severe hypoglycemia. Another person can help someone who has passed out by giving an injection of glucagon. Glucagon will rapidly bring the blood glucose level back to normal and help the person regain consciousness. A health care provider can prescribe a glucagon emergency kit. Family, friends, or coworkersthe people who will be around the person at risk of hypoglycemiacan learn how to give a glucagon injection and when to call 911 or get medical help.
Physical Activity and Blood Glucose Levels
Physical activity has many benefits for people with diabetes, including lowering blood glucose levels. However, physical activity can make levels too low and can cause hypoglycemia up to 24 hours afterward. A health care provider can advise about checking the blood glucose level before exercise. For those who take insulin or one of the oral medications that increase insulin production, the health care provider may suggest having a snack if the glucose level is below 100 mg/dL or adjusting medication doses before physical activity to help avoid hypoglycemia. A snack can prevent hypoglycemia. The health care provider may suggest extra blood glucose checks, especially after strenuous exercise.
Hypoglycemia When Driving
Hypoglycemia is particularly dangerous if it happens to someone who is driving. People with hypoglycemia may have trouble concentrating or seeing clearly behind the wheel and may not be able to react quickly to road hazards or to the actions of other drivers. To prevent problems, people at risk for hypoglycemia should check their blood glucose level before driving. During longer trips, they should check their blood glucose level frequently and eat snacks as needed to keep the level at 70 mg/dL or above. If necessary, they should stop for treatment and then make sure their blood glucose level is 70 mg/dL or above before starting to drive again.
Hypoglycemia Unawareness
Some people with diabetes do not have early warning signs of low blood glucose, a condition called hypoglycemia unawareness. This condition occurs most often in people with type 1 diabetes, but it can also occur in people with type 2 diabetes. People with hypoglycemia unawareness may need to check their blood glucose level more often so they know when hypoglycemia is about to occur. They also may need a change in their medications, meal plan, or physical activity routine.
Hypoglycemia unawareness develops when frequent episodes of hypoglycemia lead to changes in how the body reacts to low blood glucose levels. The body stops releasing the hormone epinephrine and other stress hormones when blood glucose drops too low. The loss of the body's ability to release stress hormones after repeated episodes of hypoglycemia is called hypoglycemia-associated autonomic failure, or HAAF.
Epinephrine causes early warning symptoms of hypoglycemia such as shakiness, sweating, anxiety, and hunger. Without the release of epinephrine and the symptoms it causes, a person may not realize that hypoglycemia is occurring and may not take action to treat it. A vicious cycle can occur in which frequent hypoglycemia leads to hypoglycemia unawareness and HAAF, which in turn leads to even more severe and dangerous hypoglycemia. Studies have shown that preventing hypoglycemia for a period as short as several weeks can sometimes break this cycle and restore awareness of symptoms. Health care providers may therefore advise people who have had severe hypoglycemia to aim for higher-than-usual blood glucose targets for short-term periods.
Being Prepared for Hypoglycemia
People who use insulin or take an oral diabetes medication that can cause low blood glucose should always be prepared to prevent and treat low blood glucose by
- learning what can trigger low blood glucose levels - having their blood glucose meter available to test glucose levels; frequent testing may be critical for those with hypoglycemia unawareness, particularly before driving a car or engaging in any hazardous activity - always having several servings of quick-fix foods or drinks handy - wearing a medical identification bracelet or necklace - planning what to do if they develop severe hypoglycemia - telling their family, friends, and coworkers about the symptoms of hypoglycemia and how they can help if needed
Normal and Target Blood Glucose Ranges Normal Blood Glucose Levels in People Who Do Not Have Diabetes Upon wakingfasting 70 to 99 mg/dL After meals 70 to 140 mg/dL Target Blood Glucose Levels in People Who Have Diabetes Before meals 70 to 130 mg/dL 1 to 2 hours after the start of a meal below 180 mg/dL
For people with diabetes, a blood glucose level below 70 mg/dL is considered hypoglycemia.
|
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15
] |
What are the symptoms of Skin Cancer ?
|
Early Detection is Important When skin cancer is found early, it is more likely to be treated successfully. Therefore, it is important to know how to recognize the signs of skin cancer in order to improve the chances of early diagnosis. Most non-melanoma skin cancers (basal cell carcinoma and squamous cell carcinoma) can be cured if found and treated early. Skin Changes A change on the skin is the most common sign of skin cancer. This may be a new growth, a sore that doesn't heal, or a change in an old growth. Not all skin cancers look the same. Sometimes skin cancer is painful, but usually it is not. Checking your skin for new growths or other changes is a good idea. Keep in mind that changes are not a sure sign of skin cancer. Still, you should report any changes to your health care provider right away. You may need to see a dermatologist, a doctor who has special training in the diagnosis and treatment of skin problems. A Mole That is Bleeding Also see a doctor if a mole is bleeding or if more moles appear around the first one. Most of the time, these signs are not cancer. Sometimes, it is not even a mole. Still, it is important to check with a doctor so that any problems can be diagnosed and treated as early as possible. Don't ignore your symptoms because you think they are not important or because you believe they are normal for your age. Signs of Melanoma Melanoma skin cancer is more difficult to treat, so it is important to check for signs and seek treatment as soon as possible. Use the following ABCDE rule to remember the symptoms of melanoma. See a doctor if you have a mole, birthmark, or other pigmented area of skin with A = Asymmetry. One half of the mole looks different than the other half. (top left image) B = Border. The edges are often ragged, notched, or blurred in outline. The pigment may spread into the surrounding skin. (top right image) C = Color. The mole is more than one color. Shades of black, brown, and tan may be present. Areas of white, gray, red, pink, or blue may also be seen.(bottom left image) D = Diameter.There is a change in size, usually an increase. Melanomas can be tiny, but most are larger than the size of a pea (larger than 6 millimeters or about 1/4 inch). (bottom right image) E = Evolving. The mole has changed over the past few weeks or months.
|
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What are the symptoms of Anemia ?
|
The most common symptom of anemia is fatigue (feeling tired or weak). If you have anemia, you may find it hard to find the energy to do normal activities.
Other signs and symptoms of anemia include:
Shortness of breath
Dizziness
Headache
Coldness in the hands and feet
Pale skin
Chest pain
These signs and symptoms can occur because your heart has to work harder to pump oxygen-rich blood through your body.
Mild to moderate anemia may cause very mild symptoms or none at all.
Complications of Anemia
Some people who have anemia may have arrhythmias (ah-RITH-me-ahs). Arrhythmias are problems with the rate or rhythm of the heartbeat. Over time, arrhythmias can damage your heart and possibly lead to heart failure.
Anemia also can damage other organs in your body because your blood can't get enough oxygen to them.
Anemia can weaken people who have cancer or HIV/AIDS. This can make their treatments not work as well.
Anemia also can cause many other health problems. People who have kidney disease and anemia are more likely to have heart problems. With some types of anemia, too little fluid intake or too much loss of fluid in the blood and body can occur. Severe loss of fluid can be life threatening.
|
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Do you have information about Childhood Immunization
|
Summary : Today, children in the United States routinely get vaccines that protect them from more than a dozen diseases such as measles, polio, tetanus, diphtheria, and pertussis (whooping cough). Most of these diseases are now at their lowest levels in history, thanks to years of immunization. Children must get at least some vaccines before they may attend school. Vaccines help make you immune to serious diseases without getting sick first. Without a vaccine, you must actually get a disease in order to become immune to the germ that causes it. Vaccines work best when they are given at certain ages. For example, children don't receive measles vaccine until they are at least one year old. If it is given earlier it might not work as well. The Centers for Disease Control and Prevention publishes a schedule for childhood vaccines. Although some of the vaccines you receive as a child provide protection for many years, adults need immunizations too. Centers for Disease Control and Prevention
|
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What are the treatments for Ehlers-Danlos syndrome ?
|
These resources address the diagnosis or management of Ehlers-Danlos syndrome: - Gene Review: Gene Review: Ehlers-Danlos Syndrome, Classic Type - Gene Review: Gene Review: Ehlers-Danlos Syndrome, Hypermobility Type - Gene Review: Gene Review: Ehlers-Danlos Syndrome, Kyphoscoliotic Form - Gene Review: Gene Review: Vascular Ehlers-Danlos Syndrome - Genetic Testing Registry: Ehlers-Danlos syndrome - Genetic Testing Registry: Ehlers-Danlos syndrome, musculocontractural type 2 - Genetic Testing Registry: Ehlers-Danlos syndrome, progeroid type, 2 - Genetic Testing Registry: Ehlers-Danlos syndrome, type 7A - MedlinePlus Encyclopedia: Ehlers-Danlos Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
|
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What is (are) Viral Gastroenteritis ?
|
Viral gastroenteritis is inflammation of the lining of the stomach, small intestine, and large intestine. Several different viruses can cause viral gastroenteritis, which is highly contagious and extremely common. Viral gastroenteritis causes millions of cases of diarrhea each year.
Anyone can get viral gastroenteritis and most people recover without any complications, unless they become dehydrated.
|
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What are the symptoms of Van Regemorter Pierquin Vamos syndrome ?
|
What are the signs and symptoms of Van Regemorter Pierquin Vamos syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Van Regemorter Pierquin Vamos syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelashes 90% Aplasia/Hypoplasia of the eyebrow 90% Broad forehead 90% Hypertelorism 90% Short distal phalanx of finger 90% Short philtrum 90% Thin vermilion border 90% Abnormal form of the vertebral bodies 50% Abnormality of the cardiac septa 50% Abnormality of the fingernails 50% Abnormality of the neck 50% Abnormality of the palate 50% Abnormality of the ribs 50% Anomalous pulmonary venous return 50% Clinodactyly of the 5th finger 50% Cryptorchidism 50% Displacement of the external urethral meatus 50% Downturned corners of mouth 50% Finger syndactyly 50% Hydrocephalus 50% Hypoplasia of penis 50% Impaired pain sensation 50% Muscular hypotonia 50% Narrow mouth 50% Optic atrophy 50% Patent ductus arteriosus 50% Polyhydramnios 50% Premature birth 50% Renal hypoplasia/aplasia 50% Wormian bones 50% 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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What are the treatments for Progressive multifocal leukoencephalopathy ?
|
How might progressive multifocal leukoencephalopathy (PML) be treated? Currently, the best available therapy is reversal of the immune-deficient state. This can sometimes be accomplished by alteration of chemotherapy or immunosuppression. In the case of HIV-associated PML, immediately beginning anti-retroviral therapy will benefit most individuals.
|
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What are the symptoms of Childhood Acute Lymphoblastic Leukemia ?
|
Signs of childhood ALL include fever and bruising. These and other signs and symptoms may be caused by childhood ALL or by other conditions. Check with your child's doctor if your child has any of the following: - Fever. - Easy bruising or bleeding. - Petechiae (flat, pinpoint, dark-red spots under the skin caused by bleeding). - Bone or joint pain. - Painless lumps in the neck, underarm, stomach, or groin. - Pain or feeling of fullness below the ribs. - Weakness, feeling tired, or looking pale. - Loss of appetite.
|
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What is (are) Kidney Failure: Choosing a Treatment That's Right for You ?
|
The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid. The urine flows from the kidneys to the bladder through two thin tubes of muscle called ureters, one on each side of the bladder. The bladder stores urine. The muscles of the bladder wall remain relaxed while the bladder fills with urine. As the bladder fills to capacity, signals sent to the brain tell a person to find a toilet soon. When the bladder empties, urine flows out of the body through a tube called the urethra, located at the bottom of the bladder. In men the urethra is long, while in women it is short.
|
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Is familial hypobetalipoproteinemia inherited ?
|
This condition is inherited in an autosomal codominant pattern. Codominance means that copies of the gene from both parents are active (expressed), and both copies influence the genetic trait. In FHBL, a change in one copy of the APOB gene in each cell can cause the condition, but changes in both copies of the gene cause more severe health problems.
|
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What is (are) Abdominal Pain ?
|
Your abdomen extends from below your chest to your groin. Some people call it the stomach, but your abdomen contains many other important organs. Pain in the abdomen can come from any one of them. The pain may start somewhere else, such as your chest. Severe pain doesn't always mean a serious problem. Nor does mild pain mean a problem is not serious. Call your healthcare provider if mild pain lasts a week or more or if you have pain with other symptoms. Get medical help immediately if - You have abdominal pain that is sudden and sharp - You also have pain in your chest, neck or shoulder - You're vomiting blood or have blood in your stool - Your abdomen is stiff, hard and tender to touch - You can't move your bowels, especially if you're also vomiting
|
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Do you have information about Teen Health
|
Summary : As a teenager, you go through many changes. Your body is on its way to becoming its adult size. You may notice that you can't fit into your old shoes or that your jeans are now 3 inches too short. Along with these changes, you are probably becoming more independent and making more of your own choices. Some of the biggest choices you face are about your health. Healthy habits, including eating a healthy diet and being physically active, can help you feel good, look good, and do your best in school, work, or sports. They might also prevent diseases such as diabetes, high blood pressure, heart disease, osteoporosis, stroke, and some cancers when you are older.
|
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What is (are) Myoepithelial carcinoma ?
|
Myoepithelial carcinoma is a rare malignant tumor that usually occurs in the salivary glands but can also occur in skin and soft tissues. The name of this cancer comes from the appearance of the tumor cells under the microscope. Approximately 66% of these tumors occur in the parotid gland. The average age of patients is reported to be 55 years.
|
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What are the symptoms of Rheumatoid Arthritis ?
|
Rheumatoid arthritis is characterized by inflammation of the joint lining. This inflammation causes warmth, redness, swelling, and pain around the joints. The pain of rheumatoid arthritis varies greatly from person to person, for reasons that doctors do not yet understand completely. Factors that contribute to the pain include swelling within the joint, the amount of heat or redness present, or damage that has occurred within the joint.
|
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What are the symptoms of Ruvalcaba syndrome ?
|
What are the signs and symptoms of Ruvalcaba syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Ruvalcaba syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metacarpal bones 90% Abnormality of the teeth 90% Brachydactyly syndrome 90% Cognitive impairment 90% Cone-shaped epiphysis 90% Convex nasal ridge 90% Kyphosis 90% Microcephaly 90% Micromelia 90% Narrow mouth 90% Proximal placement of thumb 90% Ptosis 90% Short nose 90% Short palm 90% Synostosis of carpal bones 90% Thin vermilion border 90% Abnormality of the elbow 50% Abnormality of vertebral epiphysis morphology 50% Cryptorchidism 50% High forehead 50% Intrauterine growth retardation 50% Narrow chest 50% Pectus carinatum 50% Scoliosis 50% Abnormal electroretinogram 7.5% Abnormal localization of kidney 7.5% Abnormality of visual evoked potentials 7.5% Clinodactyly of the 5th finger 7.5% Hematuria 7.5% Hernia of the abdominal wall 7.5% Hypertrichosis 7.5% Hypopigmented skin patches 7.5% Seizures 7.5% Abnormality of the breast - Autosomal dominant inheritance - Delayed puberty - Dental crowding - Inguinal hernia - Intellectual disability - Limited elbow extension - Narrow nose - Retinal dystrophy - Short foot - Short metacarpal - Short metatarsal - Short phalanx of finger - Short stature - Small hand - Underdeveloped nasal alae - 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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What is the outlook for Deep Brain Stimulation for Parkinson's Disease ?
|
Although most individuals still need to take medication after undergoing DBS, many people with Parkinsons disease experience considerable reduction of their motor symptoms and are able to reduce their medications. The amount of reduction varies but can be considerably reduced in most individuals, and can lead to a significant improvement in side effects such as dyskinesias (involuntary movements caused by long-term use of levodopa). In some cases, the stimulation itself can suppress dyskinesias without a reduction in medication. DBS does not improve cognitive symptoms in PD and indeed may worsen them, so it is not generally used if there are signs of dementia. DBS changes the brain firing pattern but does not slow the progression of the neurodegeneration.
|
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] |
Is triple X syndrome inherited ?
|
Most cases of triple X syndrome are not inherited. The chromosomal change usually occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. For example, an egg or sperm cell may gain an extra copy of the X chromosome as a result of nondisjunction. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have an extra X chromosome in each of the body's cells. 46,XX/47,XXX mosaicism is also not inherited. It occurs as a random event during cell division in early embryonic development. As a result, some of an affected person's cells have two X chromosomes (46,XX), and other cells have three X chromosomes (47,XXX).
|
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] |
What are the symptoms of Radio renal syndrome ?
|
What are the signs and symptoms of Radio renal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Radio renal syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal form of the vertebral bodies 90% Abnormality of the elbow 90% Abnormality of the palate 90% Abnormality of the pleura 90% Abnormality of the ribs 90% Brachydactyly syndrome 90% Convex nasal ridge 90% Depressed nasal bridge 90% Downturned corners of mouth 90% Micromelia 90% Multicystic kidney dysplasia 90% Renal hypoplasia/aplasia 90% Respiratory insufficiency 90% Short neck 90% Short stature 90% Abnormality of chromosome stability - Absent radius - Absent thumb - Autosomal dominant inheritance - Ectopic kidney - External ear malformation - Renal agenesis - 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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What are the genetic changes related to 7q11.23 duplication syndrome ?
|
7q11.23 duplication syndrome results from an extra copy of a region on the long (q) arm of chromosome 7 in each cell. This region is called the Williams-Beuren syndrome critical region (WBSCR) because its deletion causes a different disorder called Williams syndrome, also known as Williams-Beuren syndrome. The region, which is 1.5 to 1.8 million DNA base pairs (Mb) in length, includes 26 to 28 genes. Extra copies of several of the genes in the duplicated region, including the ELN and GTF2I genes, likely contribute to the characteristic features of 7q11.23 duplication syndrome. Researchers suggest that an extra copy of the ELN gene in each cell may be related to the increased risk for aortic dilatation in 7q11.23 duplication syndrome. Studies suggest that an extra copy of the GTF2I gene may be associated with some of the behavioral features of the disorder. However, the specific causes of these features are unclear. Researchers are studying additional genes in the duplicated region, but none have been definitely linked to any of the specific signs or symptoms of 7q11.23 duplication syndrome.
|
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What is (are) Depression ?
|
Depression is a serious medical illness. It's more than just a feeling of being sad or "blue" for a few days. If you are one of the more than 19 million teens and adults in the United States who have depression, the feelings do not go away. They persist and interfere with your everyday life. Symptoms can include - Feeling sad or "empty" - Loss of interest in favorite activities - Overeating, or not wanting to eat at all - Not being able to sleep, or sleeping too much - Feeling very tired - Feeling hopeless, irritable, anxious, or guilty - Aches or pains, headaches, cramps, or digestive problems - Thoughts of death or suicide Depression is a disorder of the brain. There are a variety of causes, including genetic, biological, environmental, and psychological factors. Depression can happen at any age, but it often begins in teens and young adults. It is much more common in women. Women can also get postpartum depression after the birth of a baby. Some people get seasonal affective disorder in the winter. Depression is one part of bipolar disorder. There are effective treatments for depression, including antidepressants, talk therapy, or both. NIH: National Institute of Mental Health
|
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Is spinal muscular atrophy with progressive myoclonic epilepsy inherited ?
|
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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How many people are affected by 17 alpha-hydroxylase/17,20-lyase deficiency ?
|
17-hydroxylase/17,20-lyase deficiency accounts for about 1 percent of congenital adrenal hyperplasia cases. It is estimated to occur in 1 in 1 million people worldwide.
|
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How to diagnose Optic neuritis ?
|
How is optic neuritis diagnosed? The diagnosis of optic neuritis is usually based on clinical findings and ophthalmologic examination. A careful history, including information about recent illness, fever, or immunizations is helpful. An eye exam should be conducted with assessment of visual acuity, pupil reactions, color vision and peripheral vision. The optic nerve should be examined with ophthalmoscopy for inflammation and swelling. Additional tests may include MRI of the brain, spinal tap and blood tests.
|
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What are the symptoms of Bronchiectasis ?
|
The initial airway damage that leads to bronchiectasis often begins in childhood. However, signs and symptoms may not appear until months or even years after you start having repeated lung infections.
The most common signs and symptoms of bronchiectasis are:
A daily cough that occurs over months or years
Daily production of large amounts of sputum (spit). Sputum, which you cough up and spit out, may contain mucus (a slimy substance), trapped particles, and pus.
Shortness of breath and wheezing (a whistling sound when you breathe)
Chest pain
Clubbing (the flesh under your fingernails and toenails gets thicker)
If your doctor listens to your lungs with a stethoscope, he or she may hear abnormal lung sounds.
Over time, you may have more serious symptoms. You may cough up blood or bloody mucus and feel very tired. Children may lose weight or not grow at a normal rate.
Complications of Bronchiectasis
Severe bronchiectasis can lead to other serious health conditions, such as respiratory failure and atelectasis.
Respiratory failure is a condition in which not enough oxygen passes from your lungs into your blood. The condition also can occur if your lungs can't properly remove carbon dioxide (a waste gas) from your blood.
Respiratory failure can cause shortness of breath, rapid breathing, and air hunger (feeling like you can't breathe in enough air). In severe cases, signs and symptoms may include a bluish color on your skin, lips, and fingernails; confusion; and sleepiness.
Atelectasis is a condition in which one or more areas of your lungs collapse or don't inflate properly. As a result, you may feel short of breath. Your heart rate and breathing rate may increase, and your skin and lips may turn blue.
If bronchiectasis is so advanced that it affects all parts of your airways, it may cause heart failure. Heart failure is a condition in which the heart can't pump enough blood to meet the body's needs.
The most common signs and symptoms of heart failure are shortness of breath or trouble breathing, tiredness, and swelling in the ankles, feet, legs, abdomen, and veins in the neck.
|
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Is Norrie disease inherited ?
|
This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In X-linked recessive inheritance, a female with one altered copy of the gene in each cell is called a carrier. She can pass on the gene, but generally does not experience signs and symptoms of the disorder. In rare cases, however, carrier females have shown some retinal abnormalities or mild hearing loss associated with Norrie disease.
|
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What causes Viral Hepatitis: A through E and Beyond ?
|
Some cases of viral hepatitis cannot be attributed to the hepatitis A, B, C, D, or E viruses, or even the less common viruses that can infect the liver, such as cytomegalovirus, Epstein-Barr virus, herpesvirus, parvovirus, and adenovirus. These cases are called non-AE hepatitis. Scientists continue to study the causes of non-AE hepatitis.
|
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How to diagnose Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis ?
|
A pathologista doctor who specializes in examining tissues to diagnose diseasesdiagnoses microscopic colitis based on the findings of multiple biopsies taken throughout the colon. Biopsy is a procedure that involves taking small pieces of tissue for examination with a microscope. The pathologist examines the colon tissue samples in a lab. Many patients can have both lymphocytic colitis and collagenous colitis in different parts of their colon.
To help diagnose microscopic colitis, a gastroenterologista doctor who specializes in digestive diseasesbegins with
- a medical and family history - a physical exam
The gastroenterologist may perform a series of medical tests to rule out other bowel diseasessuch as irritable bowel syndrome, celiac disease, Crohns disease, ulcerative colitis, and infectious colitisthat cause symptoms similar to those of microscopic colitis. These medical tests include
- lab tests - imaging tests of the intestines - endoscopy of the intestines
Medical and Family History
The gastroenterologist will ask the patient to provide a medical and family history, a review of the symptoms, a description of eating habits, and a list of prescription and over-the-counter medications in order to help diagnose microscopic colitis. The gastroenterologist will also ask the patient about current and past medical conditions.
Physical Exam
A physical exam may help diagnose microscopic colitis and rule out other diseases. During a physical exam, the gastroenterologist usually
- examines the patients body - taps on specific areas of the patients abdomen
Lab Tests
Lab tests may include
- blood tests - stool tests
Blood tests. A blood test involves drawing blood at a health care providers office or a commercial facility and sending the sample to a lab for analysis. A health care provider may use blood tests to help look for changes in red and white blood cell counts.
- Red blood cells. When red blood cells are fewer or smaller than normal, a person may have anemiaa condition that prevents the bodys cells from getting enough oxygen. - White blood cells. When the white blood cell count is higher than normal, a person may have inflammation or infection somewhere in the body.
Stool tests. A stool test is the analysis of a sample of stool. A health care provider will give the patient a container for catching and storing the stool. The patient returns the sample to the health care provider or a commercial facility that will send the sample to a lab for analysis. Health care providers commonly order stool tests to rule out other causes of GI diseases, such as different types of infectionsincluding bacteria or parasitesor bleeding, and help determine the cause of symptoms.
Imaging Tests of the Intestines
Imaging tests of the intestines may include the following:
- computerized tomography (CT) scan - magnetic resonance imaging (MRI) - upper GI series
Specially trained technicians perform these tests at an outpatient center or a hospital, and a radiologista doctor who specializes in medical imaginginterprets the images. A patient does not need anesthesia. Health care providers use imaging tests to show physical abnormalities and to diagnose certain bowel diseases, in some cases.
CT scan. CT 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 contrast medium. CT scans require the patient to lie on a table that slides into a tunnel-shaped device where the technician takes the x rays.
MRI. MRI is a test that takes pictures of the bodys internal organs and soft tissues without using x rays. Although a patient does not need anesthesia for an MRI, some patients with a fear of confined spaces may receive light sedation, taken by mouth. An MRI may include a solution to drink and injection of contrast medium. With most MRI machines, the patient will lie on a table that slides into a tunnel-shaped device that may be open ended or closed at one end. Some machines allow the patient to lie in a more open space. During an MRI, the patient, although usually awake, must remain perfectly still while the technician takes the images, which usually takes only a few minutes. The technician will take a sequence of images to create a detailed picture of the intestines. During sequencing, the patient will hear loud mechanical knocking and humming noises.
Upper GI series. This test is an x-ray exam that provides a look at the shape of the upper GI tract. A patient should not eat or drink before the procedure, as directed by the health care provider. Patients should ask their health care provider about how to prepare for an upper GI series. 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 upper GI tract so the radiologist and gastroenterologist can see the organs shapes 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. More information is provided in the NIDDK health topic, Upper GI Series.
Endoscopy of the Intestines
Endoscopy of the intestines may include
- colonoscopy with biopsy - flexible sigmoidoscopy with biopsy - upper GI endoscopy with biopsy
A gastroenterologist performs these tests at a hospital or an outpatient center.
Colonoscopy with biopsy. Colonoscopy is a test that uses a long, flexible, narrow tube with a light and tiny camera on one end, called a colonoscope or scope, to look inside the rectum and entire colon. In most cases, light anesthesia and pain medication help patients relax for the test. The medical staff will monitor a patients vital signs and try to make him or her as comfortable as possible. A nurse or technician places an intravenous (IV) needle in a vein in the arm or hand to give anesthesia.
For the test, the patient will lie on a table while the gastroenterologist inserts a colonoscope into the anus and slowly guides it through the rectum and into the colon. The scope inflates the large intestine with air to give the gastroenterologist a better view. The camera sends a video image of the intestinal lining to a computer screen, allowing the gastroenterologist to carefully examine the tissues lining the colon and rectum. The gastroenterologist may move the patient several times and adjust the scope for better viewing. Once the scope has reached the opening to the small intestine, the gastroenterologist slowly withdraws it and examines the lining of the colon and rectum again. A colonoscopy can show irritated and swollen tissue, ulcers, and abnormal growths such as polypsextra pieces of tissue that grow on the lining of the intestine. If the lining of the rectum and colon appears normal, the gastroenterologist may suspect microscopic colitis and will biopsy multiple areas of the colon.
A health care provider will provide written bowel prep instructions to follow at home before the test. The health care provider will also explain what the patient can expect after the test and give discharge instructions.
Flexible sigmoidoscopy with biopsy. Flexible sigmoidoscopy is a test that uses a flexible, narrow tube with a light and tiny camera on one end, called a sigmoidoscope or scope, to look inside the rectum and the sigmoid colon. A patient does not usually need anesthesia.
For the test, the patient will lie on a table while the gastroenterologist inserts the sigmoidoscope into the anus and slowly guides it through the rectum and into the sigmoid colon. The scope inflates the large intestine with air to give the gastroenterologist a better view. The camera sends a video image of the intestinal lining to a computer screen, allowing the gastroenterologist to carefully examine the tissues lining the sigmoid colon and rectum. The gastroenterologist may ask the patient to move several times and adjust the scope for better viewing. Once the scope reaches the end of the sigmoid colon, the gastroenterologist slowly withdraws it while carefully examining the lining of the sigmoid colon and rectum again.
The gastroenterologist will look for signs of bowel diseases and conditions such as irritated and swollen tissue, ulcers, and polyps. If the lining of the rectum and colon appears normal, the gastroenterologist may suspect microscopic colitis and will biopsy multiple areas of the colon.
A health care provider will provide written bowel prep instructions to follow at home before the test. The health care provider will also explain what the patient can expect after the test and give discharge instructions.
Upper GI endoscopy with biopsy. Upper GI endoscopy is a test that uses a flexible, narrow tube with a light and tiny camera on one end, called an endoscope or a scope, to look inside the upper GI tract. The gastroenterologist carefully feeds the endoscope down the esophagus and into the stomach and first part of the small intestine, called the duodenum. A small camera mounted on the endoscope transmits a video image to a monitor, allowing close examination of the intestinal lining. A health care provider may give a patient a liquid anesthetic to gargle or may spray anesthetic on the back of the patients throat. A health care provider will place an IV needle in a vein in the arm or hand to administer sedation. Sedatives help patients stay relaxed and comfortable. This test can show blockages or other conditions in the upper small intestine. A gastroenterologist may biopsy the lining of the small intestine during an upper GI endoscopy.
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] |
What is (are) Binswanger's Disease ?
|
Binswanger's disease (BD), also called subcortical vascular dementia, is a type of dementia caused by widespread, microscopic areas of damage to the deep layers of white matter in the brain. The damage is the result of the thickening and narrowing (atherosclerosis) of arteries that feed the subcortical areas of the brain. Atherosclerosis (commonly known as "hardening of the arteries") is a systemic process that affects blood vessels throughout the body. It begins late in the fourth decade of life and increases in severity with age. As the arteries become more and more narrowed, the blood supplied by those arteries decreases and brain tissue dies. A characteristic pattern of BD-damaged brain tissue can be seen with modern brain imaging techniques such as CT scans or magnetic resonance imaging (MRI). The symptoms associated with BD are related to the disruption of subcortical neural circuits that control what neuroscientists call executive cognitive functioning: short-term memory, organization, mood, the regulation of attention, the ability to act or make decisions, and appropriate behavior. The most characteristic feature of BD is psychomotor slowness - an increase in the length of time it takes, for example, for the fingers to turn the thought of a letter into the shape of a letter on a piece of paper. Other symptoms include forgetfulness (but not as severe as the forgetfulness of Alzheimer's disease), changes in speech, an unsteady gait, clumsiness or frequent falls, changes in personality or mood (most likely in the form of apathy, irritability, and depression), and urinary symptoms that aren't caused by urological disease. Brain imaging, which reveals the characteristic brain lesions of BD, is essential for a positive diagnosis.
|
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What are the genetic changes related to Hajdu-Cheney syndrome ?
|
Hajdu-Cheney syndrome is associated with mutations in the NOTCH2 gene. This gene provides instructions for making a receptor called Notch2. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. When a ligand binds to the Notch2 receptor, it triggers signals that are important for the normal development and function of many different types of cells. Studies suggest that signaling through the Notch2 receptor is important for the early development of bones and later for bone remodeling, a normal process in which old bone is removed and new bone is created to replace it. Notch2 signaling also appears to be involved in the development of the heart, kidneys, teeth, and other parts of the body. Mutations in a specific area near the end of the NOTCH2 gene are associated with Hajdu-Cheney syndrome. These mutations lead to a version of the Notch2 receptor that cannot be broken down normally. As a result, the receptor continues to be active even after signaling should stop. Researchers are unsure how excessive Notch2 signaling is related to the varied features of Hajdu-Cheney syndrome. They suspect that the skeletal features of the disorder, including acro-osteolysis, osteoporosis, and distinctive facial features, likely result from abnormal bone development and remodeling. Excess signaling through the overactive Notch2 receptor may increase the removal of old bone, reduce the formation of new bone, or both. It is less clear how the overactive receptor contributes to the other signs and symptoms of this condition.
|
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What is (are) Kidney Failure: Eat Right to Feel Right on Hemodialysis ?
|
Calories provide energy for your body. If your doctor recommends it, you may need to cut down on the calories you eat. A dietitian can help you plan ways to cut calories in the best possible way.
Some people on dialysis need to gain weight. You may need to find ways to add calories to your diet. Vegetable oils-like olive oil, canola oil, and safflower oil-are good sources of calories. Use them generously on breads, rice, and noodles.
Butter and margarines are rich in calories. But these fatty foods can also clog your arteries. Use them less often. Soft margarine that comes in a tub is better than stick margarine. Vegetable oils are the healthiest way to add fat to your diet if you need to gain weight.
Hard candy, sugar, honey, jam, and jelly provide calories and energy without clogging arteries or adding other things that your body does not need. If you have diabetes, be very careful about eating sweets. A dietitian's guidance is very important for people with diabetes.
|
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Is neonatal onset multisystem inflammatory disease inherited ?
|
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In almost all cases, NOMID results from new mutations. These cases occur in people with no history of the disorder in their family. A few cases have been reported in which an affected person has inherited the mutation from one affected parent.
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What is (are) Pinkeye ?
|
Conjunctivitis is the medical name for pink eye. It involves inflammation of the outer layer of the eye and inside of the eyelid. It can cause swelling, itching, burning, discharge, and redness. Causes include - Bacterial or viral infection - Allergies - Substances that cause irritation - Contact lens products, eye drops, or eye ointments Pinkeye usually does not affect vision. Infectious pink eye can easily spread from one person to another. The infection will clear in most cases without medical care, but bacterial pinkeye needs treatment with antibiotic eye drops or ointment. NIH: National Eye Institute
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What causes Congenital anosmia ?
|
What causes congenital anosmia? Congenital anosmia may occur as an isolated abnormality or be associated with specific genetic disorders (such as Kallmann syndrome and congenital insensitivity to pain). Most cases of isolated congenital anosmia (not associated with additional symptoms) occur sporadically in people with no family history of the condition. In these people, the exact underlying cause of the condition is unknown. Most likely, there is more than one cause. Scientists suspect that the condition occurs due to abnormal development of the olfactory system (the sensory system used for sense of smell) prior to birth. This may include abnormalities of the nasal cavity, disruptions in the pathway that carries information from the nose to the brain, and/or malformations of the portion of the brain that processes sense of smell. Rarely, isolated congenital anosmia can affect more than one family member. This suggests that there may be a genetic component in some cases. One study found that some people affected by isolated congenital anosmia have changes (mutations) in PROKR2 or PROK2, two genes that have previously been reported in people with Kallmann syndrome (an inherited condition associated with congenital anosmia and other symptoms). To date, no other disease-causing genes have been identified.
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What is (are) Sleep Deprivation and Deficiency ?
|
Sleep deprivation (DEP-rih-VA-shun) is a condition that occurs if you don't get enough sleep. Sleep deficiency is a broader concept. It occurs if you have one or more of the following:
You don't get enough sleep (sleep deprivation)
You sleep at the wrong time of day (that is, you're out of sync with your body's natural clock)
You don't sleep well or get all of the different types of sleep that your body needs
You have a sleep disorder that prevents you from getting enough sleep or causes poor quality sleep
This article focuses on sleep deficiency, unless otherwise noted.
Sleeping is a basic human need, like eating, drinking, and breathing. Like these other needs, sleeping is a vital part of the foundation for good health and well-being throughout your lifetime.
Sleep deficiency can lead to physical and mental health problems, injuries, loss of productivity, and even a greater risk of death.
Overview
To understand sleep deficiency, it helps to understand how sleep works and why it's important. The two basic types of sleep are rapid eye movement (REM) and non-REM.
Non-REM sleep includes what is commonly known as deep sleep or slow wave sleep. Dreaming typically occurs during REM sleep. Generally, non-REM and REM sleep occur in a regular pattern of 35 cycles each night.
Your ability to function and feel well while you're awake depends on whether you're getting enough total sleep and enough of each type of sleep. It also depends on whether you're sleeping at a time when your body is prepared and ready to sleep.
You have an internal "body clock" that controls when you're awake and when your body is ready for sleep. This clock typically follows a 24-hour repeating rhythm (called the circadian rhythm). The rhythm affects every cell, tissue, and organ in your body and how they work. (For more information, go to "What Makes You Sleep?")
If you aren't getting enough sleep, are sleeping at the wrong times, or have poor quality sleep, you'll likely feel very tired during the day. You may not feel refreshed and alert when you wake up.
Sleep deficiency can interfere with work, school, driving, and social functioning. You might have trouble learning, focusing, and reacting. Also, you might find it hard to judge other people's emotions and reactions. Sleep deficiency also can make you feel frustrated, cranky, or worried in social situations.
The signs and symptoms of sleep deficiency may differ between children and adults. Children who are sleep deficient might be overly active and have problems paying attention. They also might misbehave, and their school performance can suffer.
Outlook
Sleep deficiency is a common public health problem in the United States. People in all age groups report not getting enough sleep.
As part of a health survey for the Centers for Disease Control and Prevention, about 719 percent of adults in the United States reported not getting enough rest or sleep every day.
Nearly 40 percent of adults report falling asleep during the day without meaning to at least once a month. Also, an estimated 50 to 70 million Americans have chronic (ongoing) sleep disorders.
Sleep deficiency is linked to many chronic health problems, including heart disease, kidney disease, high blood pressure, diabetes, stroke, obesity, and depression.
Sleep deficiency also is associated with an increased risk of injury in adults, teens, and children. For example, driver sleepiness (not related to alcohol) is responsible for serious car crash injuries and death. In the elderly, sleep deficiency might be linked to an increased risk of falls and broken bones.
In addition, sleep deficiency has played a role in human errors linked to tragic accidents, such as nuclear reactor meltdowns, grounding of large ships, and aviation accidents.
A common myth is that people can learn to get by on little sleep with no negative effects. However, research shows that getting enough quality sleep at the right times is vital for mental health, physical health, quality of life, and safety.
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] |
What are the treatments for Diabetes ?
|
See your health care team at least twice a year to find and treat any problems early. Ask what steps you can take to reach your goals. If you have diabetes, take these steps. At each visit, be sure you have a - blood pressure check - foot check - weight check - review of your self-care plan. blood pressure check foot check weight check review of your self-care plan. Two times each year, get - an A1C test. It may be checked more often if it is over 7. an A1C test. It may be checked more often if it is over 7. Once each year, be sure you have a - cholesterol test - triglyceride (try-GLISS-er-ide) test - a type of blood fat - complete foot exam - dental exam to check teeth and gums. Tell your dentist you have diabetes. - dilated eye exam to check for eye problems - flu shot - urine and a blood test to check for kidney problems. cholesterol test triglyceride (try-GLISS-er-ide) test - a type of blood fat complete foot exam dental exam to check teeth and gums. Tell your dentist you have diabetes. dilated eye exam to check for eye problems flu shot urine and a blood test to check for kidney problems. At least once, get a - pneumonia (nu-MOH-nya) shot. pneumonia (nu-MOH-nya) shot. If you have Medicare, ask your health care team if Medicare will cover some of the costs for - learning about healthy eating and diabetes self-care - special shoes, if you need them - medical supplies - diabetes medicines. learning about healthy eating and diabetes self-care special shoes, if you need them medical supplies diabetes medicines. (Watch the video for important things to remember when visiting your health care team. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.)
|
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] |
What causes Long QT syndrome ?
|
What causes long QT syndrome? Acquired long QT syndrome can be caused by certain medicines and medical conditions. Some medications that cause long QT syndrome include antihistamines and decongestants, antibiotics, antidepressants, and cholesterol-lowering medicines. Examples of medical conditions that can cause long QT syndrome include excessive diarrhea or vomiting and certain thyroid disorders. Inherited forms of long QT syndrome are caused by changes in genes that control the heart muscles electrical activity. Inherited long QT syndrome may be isolated (occur alone without other associated symptoms) or be due to a genetic syndrome, such as Romano-Ward syndrome, Jervell Lang-Nielsen syndrome, Anderson-Tawil syndrome, and Timothy syndrome.
|
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What is (are) Familial hypercholesterolemia ?
|
Familial hypercholesterolemia is a condition characterized by very high levels of cholesterol in the blood due to mutations in the LDLR gene. People with hypercholesterolemia have a high risk of developing a form of heart disease called coronary artery disease, as well as health problems related to the buildup of excess cholesterol in other tissues (e.g., in the tendons and skin). Familial hypercholesterolemia tends to be passed through families in an autosomal dominant fashion. There are other hereditary forms of hypercholesterolemia caused by mutations in the APOB, LDLRAP1, or PCSK9 gene. However, most cases of high cholesterol are not caused by a single inherited condition, but result from a combination of lifestyle choices and the effects of variations in many genes.
|
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What are the treatments for hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome ?
|
These resources address the diagnosis or management of HANAC syndrome: - Gene Review: Gene Review: COL4A1-Related Disorders - Genetic Testing Registry: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 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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What is the outlook for Kidney Dysplasia ?
|
The long-term outlook for a child with kidney dysplasia in both kidneys is different from the long-term outlook for a child with one dysplastic kidney. A child with kidney dysplasia in both kidneys
- is more likely to develop CKD. - needs close follow-up with a pediatric nephrologista doctor who specializes in caring for children with kidney disease. Children who live in areas that dont have a pediatric nephrologist available can see a nephrologist who cares for both children and adults. - may eventually need dialysis or a kidney transplant.
|
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How many people are affected by myotonia congenita ?
|
Myotonia congenita is estimated to affect 1 in 100,000 people worldwide. This condition is more common in northern Scandinavia, where it occurs in approximately 1 in 10,000 people.
|
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What is (are) Pressure Sores ?
|
Pressure sores are areas of damaged skin caused by staying in one position for too long. They commonly form where your bones are close to your skin, such as your ankles, back, elbows, heels and hips. You are at risk if you are bedridden, use a wheelchair, or are unable to change your position. Pressure sores can cause serious infections, some of which are life-threatening. They can be a problem for people in nursing homes. You can prevent the sores by - Keeping skin clean and dry - Changing position every two hours - Using pillows and products that relieve pressure Pressure sores have a variety of treatments. Advanced sores are slow to heal, so early treatment is best.
|
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What causes Tracheobronchomalacia ?
|
What causes tracheobronchomalacia? The underlying cause of tracheobronchomalacia (TBM) varies by subtype. Most cases of primary TBM (also called congenital TBM) are caused by genetic conditions that weaken the walls of the airway (specifically the trachea and bronchi). For example, TBM has been reported in people with mucopolysaccharidoses (such as Hunter syndrome and Hurler syndrome), Ehlers-Danlos Syndrome, and a variety of chromosome abnormalities. Primary TBM can also be idiopathic (unknown cause) or associated with prematurity and certain birth defects (i.e. tracheoesophageal fistula). The secondary form (also called acquired TBM) is caused by the degeneration (break down) of cartilage that typically supports the airways. It is most commonly associated with: Certain medical procedures such as endotracheal intubation or tracheostomy Conditions that lead to chronic (persisting or progressing for a long period of time) inflammation such as relapsing polychondritis or chronic obstructive pulmonary disease (COPD) Cancers, tumors, or cysts that cause prolonged compression of the airway
|
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How many people are affected by hereditary hypophosphatemic rickets ?
|
X-linked hypophosphatemic rickets is the most common form of rickets that runs in families. It affects about 1 in 20,000 newborns. Each of the other forms of hereditary hypophosphatemic rickets has been identified in only a few families.
|
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What is the outlook for Frontotemporal Dementia ?
|
The outcome for people with FTD is poor. The disease progresses steadily and often rapidly, ranging from less than 2 years in some individuals to more than 10 years in others. Eventually some individuals with FTD will need 24-hour care and monitoring at home or in an institutionalized care setting.
|
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What is (are) Lung Diseases ?
|
When you breathe, your lungs take in oxygen from the air and deliver it to the bloodstream. The cells in your body need oxygen to work and grow. During a normal day, you breathe nearly 25,000 times. People with lung disease have difficulty breathing. Millions of people in the U.S. have lung disease. If all types of lung disease are lumped together, it is the number three killer in the United States. The term lung disease refers to many disorders affecting the lungs, such as asthma, COPD, infections like influenza, pneumonia and tuberculosis, lung cancer, and many other breathing problems. Some lung diseases can lead to respiratory failure. Dept. of Health and Human Services Office on Women's Health
|
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What is (are) familial dilated cardiomyopathy ?
|
Familial dilated cardiomyopathy is a genetic form of heart disease. It occurs when heart (cardiac) muscle becomes stretched out in at least one chamber of the heart, causing the open area of the chamber to become enlarged (dilated). As a result, the heart is unable to pump blood as efficiently as usual. Eventually, all four chambers of the heart become dilated as the cardiac muscle tries to increase the amount of blood being pumped through the heart. However, as the cardiac muscle becomes increasingly thin and weakened, it is less able to pump blood. Over time, this condition results in heart failure. It usually takes many years for symptoms of familial dilated cardiomyopathy to appear. They typically begin in mid-adulthood, but can occur at any time from infancy to late adulthood. Signs and symptoms of familial dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath (dyspnea), extreme tiredness (fatigue), fainting episodes (syncope), and swelling of the legs and feet. In some cases, the first sign of the disorder is sudden cardiac death. The severity of the condition varies among affected individuals, even in members of the same family.
|
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What is (are) X-linked agammaglobulinemia ?
|
X-linked agammaglobulinemia (XLA) is a condition that affects the immune system and occurs almost exclusively in males. People with XLA have very few B cells, which are specialized white blood cells that help protect the body against infection. B cells can mature into the cells that produce special proteins called antibodies or immunoglobulins. Antibodies attach to specific foreign particles and germs, marking them for destruction. Individuals with XLA are more susceptible to infections because their body makes very few antibodies. Children with XLA are usually healthy for the first 1 or 2 months of life because they are protected by antibodies acquired before birth from their mother. After this time, the maternal antibodies are cleared from the body, and the affected child begins to develop recurrent infections. In children with XLA, infections generally take longer to get better and then they come back again, even with antibiotic medications. The most common bacterial infections that occur in people with XLA are lung infections (pneumonia and bronchitis), ear infections (otitis), pink eye (conjunctivitis), and sinus infections (sinusitis). Infections that cause chronic diarrhea are also common. Recurrent infections can lead to organ damage. People with XLA can develop severe, life-threatening bacterial infections; however, affected individuals are not particularly vulnerable to infections caused by viruses. With treatment to replace antibodies, infections can usually be prevented, improving the quality of life for people with XLA.
|
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what research (or clinical trials) is being done for Kleine-Levin Syndrome ?
|
NINDS supports a broad range of clinical and basic research on diseases causing sleep disorders in an effort to clarify the mechanisms of these conditions and to develop better treatments for them.
|
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What is (are) Multiple myeloma ?
|
Multiple myeloma is a form of cancer that occurs due to abnormal and uncontrolled growth of plasma cells in the bone marrow. Some people with multiple myeloma, especially those with early stages of the condition, have no concerning signs or symptoms. When present, the most common symptom is anemia, which can be associated with fatigue and shortness of breath. Other features of the condition may include multiple infections; abnormal bleeding; bone pain; weak and/or easily broken bones; and numbness and/or weakness of the arms and legs. The exact underlying cause of multiple myeloma is currently unknown. Factors that are associated with an increased risk of developing multiple myeloma include increasing age, male sex, African American race, radiation exposure, a family history of the condition, obesity, and/or a personal history of monoclonal gammopathy of undetermined significance (MGUS). Treatment varies based on many factors, but may include one or more of the following interventions: chemotherapy, corticosteroid medications, targeted therapy, stem cell transplant, biological therapy, radiation therapy, surgery and/or watchful waiting.
|
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] |
What are the treatments for Coma ?
|
Once an individual is out of immediate danger, the medical care team focuses on preventing infections and maintaining a healthy physical state. This will often include preventing pneumonia and bedsores and providing balanced nutrition. Physical therapy may also be used to prevent contractures (permanent muscular contractions) and deformities of the bones, joints, and muscles that would limit recovery for those who emerge from coma.
|
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What are the symptoms of Hepatoblastoma ?
|
What are the signs and symptoms of Hepatoblastoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Hepatoblastoma. 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 - Hepatocellular carcinoma - Micronodular cirrhosis - Somatic mutation - Subacute progressive viral hepatitis - 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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What is (are) X-linked infantile spasm syndrome ?
|
X-linked infantile spasm syndrome is a seizure disorder characterized by a type of seizure known as infantile spasms. The spasms usually appear before the age of 1. Several types of spasms have been described, but the most commonly reported involves bending at the waist and neck with extension of the arms and legs (sometimes called a jackknife spasm). Each spasm lasts only seconds, but they occur in clusters several minutes long. Although individuals are not usually affected while they are sleeping, the spasms commonly occur just after awakening. Infantile spasms usually disappear by age 5, but many children then develop other types of seizures that recur throughout their lives. Most babies with X-linked infantile spasm syndrome have characteristic results on an electroencephalogram (EEG), a test used to measure the electrical activity of the brain. The EEG of these individuals typically shows an irregular pattern known as hypsarrhythmia, and this finding can help differentiate infantile spasms from other types of seizures. Because of the recurrent seizures, babies with X-linked infantile spasm syndrome stop developing normally and begin to lose skills they have acquired (developmental regression), such as sitting, rolling over, and babbling. Subsequently, development in affected children is delayed. Most affected individuals also have intellectual disability throughout their lives.
|
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] |
What is (are) Obesity in Children ?
|
Obesity means having too much body fat. It is different from being overweight, which means weighing too much. Both terms mean that a person's weight is greater than what's considered healthy for his or her height. Children grow at different rates, so it isn't always easy to know when a child is obese or overweight. Ask your health care provider to check whether your child's weight and height are in a healthy range. If a weight-loss program is necessary, involve the whole family in healthy habits so your child doesn't feel singled out. Encourage healthy eating by - Serving more fruits and vegetables - Buying fewer soft drinks and high-fat, high-calorie snack foods - Making sure your child eats breakfast every day - Eating fast food less often - Not using food as a reward Physical activity is also very important. Kids need about 60 minutes each day. It does not have to happen all at once. Several short periods of activity during the day are just as good. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
|
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What are the stages of Gastrointestinal Stromal Tumors ?
|
Key Points
- After a gastrointestinal stromal tumor has been diagnosed, tests are done to find out if cancer cells have spread within the gastrointestinal tract or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The results of diagnostic and staging tests are used to plan treatment.
After a gastrointestinal stromal tumor has been diagnosed, tests are done to find out if cancer cells have spread within the gastrointestinal tract or to other parts of the body.
The process used to find out if cancer has spread within the gastrointestinal (GI) tract or to other parts of the body is called staging. The information gathered from the staging process determines the stage of the disease. The following tests and procedures may be used in the staging process: - 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. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, 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. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - 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. - Bone scan : A procedure to check if there are rapidly dividing cells, such as cancer cells, in the bone. A very small amount of radioactive material is injected into a vein and travels through the bloodstream. The radioactive material collects in the bones and is detected by a scanner.
There are three ways that cancer spreads in the body.
Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body.
Cancer may spread from where it began to other parts of the body.
When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of tumor as the primary tumor. For example, if a gastrointestinal stromal tumor (GIST) spreads to the liver, the tumor cells in the liver are actually GIST cells. The disease is metastatic GIST, not liver cancer.
The results of diagnostic and staging tests are used to plan treatment.
For many cancers it is important to know the stage of the cancer in order to plan treatment. However, the treatment of GIST is not based on the stage of the cancer. Treatment is based on whether the tumor can be removed by surgery and if the tumor has spread to other parts of the abdomen or to distant parts of the body. Treatment is based on whether the tumor is: - Resectable: These tumors can be removed by surgery . - Unresectable: These tumors cannot be completely removed by surgery. - Metastatic and recurrent: Metastatic tumors have spread to other parts of the body. Recurrent tumors have recurred (come back) after treatment. Recurrent GISTs may come back in the gastrointestinal tract or in other parts of the body. They are usually found in the abdomen, peritoneum, and/or liver. - Refractory: These tumors have not gotten better with treatment.
|
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] |
What is (are) Throat Cancer ?
|
Throat cancer is a type of head and neck cancer. Throat cancer has different names, depending on what part of the throat is affected. The different parts of the throat are called the oropharynx, the hypopharynx, and the nasopharynx. Sometimes the larynx, or voice box, is also included. The main risk factors for throat cancer are smoking or using smokeless tobacco and use of alcohol. Symptoms of throat cancer may include - Trouble breathing or speaking - Frequent headaches - Pain or ringing in the ears - Trouble swallowing - Ear pain Treatments include surgery, radiation therapy, and chemotherapy. NIH: National Cancer Institute
|
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What are the treatments for Stroke ?
|
Surgery Surgery can be used to prevent stroke, to treat stroke, or to repair damage to the blood vessels or malformations in and around the brain. - Carotid endarterectomy is a surgical procedure in which a surgeon removes fatty deposits, or plaque, from the inside of one of the carotid arteries. The procedure is performed to prevent stroke. The carotid arteries are located in the neck and are the main suppliers of blood to the brain. Carotid endarterectomy is a surgical procedure in which a surgeon removes fatty deposits, or plaque, from the inside of one of the carotid arteries. The procedure is performed to prevent stroke. The carotid arteries are located in the neck and are the main suppliers of blood to the brain. Vascular Interventions In addition to surgery, a variety of techniques have been developed to allow certain vascular problems to be treated from inside the artery using specialized catheters with the goal of improving blood flow. (Vascular is a word that refers to blood vessels, arteries, and veins that carry blood throughout the body.) A catheter is a very thin, flexible tube that can be inserted into one of the major arteries of the leg or arm and then directed through the blood vessels to the diseased artery. Physicians trained in this technique called angiography undergo additional training to treat problems in the arteries of the brain or spinal cord. These physicians are called neurointerventionalists. - Angioplasty is widely used by angiographers to open blocked heart arteries, and is also used to prevent stroke. Angioplasty is a procedure in which a special catheter is inserted into the narrowed artery and then a balloon at the tip of the catheter is inflated to open the blocked artery. The procedure improves blood flow to the brain. Angioplasty is widely used by angiographers to open blocked heart arteries, and is also used to prevent stroke. Angioplasty is a procedure in which a special catheter is inserted into the narrowed artery and then a balloon at the tip of the catheter is inflated to open the blocked artery. The procedure improves blood flow to the brain. - Stenting is another procedure used to prevent stroke. In this procedure an angiographer inserts a catheter into the artery in the groin and then positions the tip of the catheter inside the narrowed artery. A stent is a tube-like device made of a mesh-like material that can be slipped into position over the catheter. When positioned inside the narrowed segment the stent is expanded to widen the artery and the catheter is removed. Angioplasty or stenting of the carotid artery can cause pieces of the diseased plaque to loosen. An umbrella-like device is often temporarily expanded above to prevent these pieces from traveling to the brain. Stenting is another procedure used to prevent stroke. In this procedure an angiographer inserts a catheter into the artery in the groin and then positions the tip of the catheter inside the narrowed artery. A stent is a tube-like device made of a mesh-like material that can be slipped into position over the catheter. When positioned inside the narrowed segment the stent is expanded to widen the artery and the catheter is removed. Angioplasty or stenting of the carotid artery can cause pieces of the diseased plaque to loosen. An umbrella-like device is often temporarily expanded above to prevent these pieces from traveling to the brain. - Angiographers also sometimes use clot removal devices to treat stroke patients in the very early stage. One device involves threading a catheter through the artery to the site of the blockage and then vacuuming out the clot. Another corkscrew-like device can be extended from the tip of a catheter and used to grab the clot and pull it out. Drugs can also be injected through the catheter directly into the clot to help dissolve the clot. Angiographers also sometimes use clot removal devices to treat stroke patients in the very early stage. One device involves threading a catheter through the artery to the site of the blockage and then vacuuming out the clot. Another corkscrew-like device can be extended from the tip of a catheter and used to grab the clot and pull it out. Drugs can also be injected through the catheter directly into the clot to help dissolve the clot.
|
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] |
What are the symptoms of COACH syndrome ?
|
What are the signs and symptoms of COACH syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for COACH syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the cerebellum 90% Apnea 90% Biliary tract abnormality 90% Cognitive impairment 90% Congenital hepatic fibrosis 90% Elevated hepatic transaminases 90% Hepatomegaly 90% Incoordination 90% Muscular hypotonia 90% Oculomotor apraxia 90% Chorioretinal coloboma 50% Feeding difficulties in infancy 50% Gait disturbance 50% Hyperreflexia 50% Iris coloboma 50% Long face 50% Narrow forehead 50% Nephropathy 50% Nystagmus 50% Optic nerve coloboma 50% Visual impairment 50% Abnormality of neuronal migration 7.5% Abnormality of the hypothalamus-pituitary axis 7.5% Abnormality of the oral cavity 7.5% Anteverted nares 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Chronic hepatic failure 7.5% Cirrhosis 7.5% Encephalocele 7.5% Hernia of the abdominal wall 7.5% Highly arched eyebrow 7.5% Hydrocephalus 7.5% Low-set, posteriorly rotated ears 7.5% Macrocephaly 7.5% Multicystic kidney dysplasia 7.5% Neoplasm of the liver 7.5% Oral cleft 7.5% Portal hypertension 7.5% Postaxial hand polydactyly 7.5% Prominent nasal bridge 7.5% Ptosis 7.5% Renal insufficiency 7.5% Scoliosis 7.5% Seizures 7.5% Splenomegaly 7.5% Strabismus 7.5% Tremor 7.5% Ataxia - Autosomal recessive inheritance - Cerebellar vermis hypoplasia - Coloboma - Growth delay - Hepatic fibrosis - Heterogeneous - Hypertelorism - Infantile onset - Intellectual disability, moderate - Molar tooth sign on MRI - Multiple small medullary renal cysts - Nephronophthisis - Occipital encephalocele - Round face - Spasticity - Wide mouth - 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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] |
what research (or clinical trials) is being done for Psoriasis ?
|
Scientists who are working to better understand and treat psoriasis are making headway in several different areas, including the role of T cells, new treatments, psoriasis genes, psoriasis-related conditions, and stress-reduction treatment.
|
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Is X-linked adrenoleukodystrophy inherited ?
|
X-linked adrenoleukodystrophy is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males (who have only one X chromosome), one altered copy of the ABCD1 gene in each cell is sufficient to cause X-linked adrenoleukodystrophy. Because females have two copies of the X chromosome, one altered copy of the ABCD1 gene in each cell usually does not cause any features of X-linked adrenoleukodystrophy; however, some females with one altered copy of the gene have health problems associated with this disorder. The signs and symptoms of X-linked adrenoleukodystrophy tend to appear at a later age in females than in males. Affected women usually develop features of the adrenomyeloneuropathy type.
|
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] |
how can y. enterocolitica infections be diagnosed for Yersinia ?
|
Y. enterocolitica infections are generally diagnosed by detecting the organism in the stools. Many laboratories do not routinely test for Y. enterocolitica,so it is important to notify laboratory personnel when infection with this bacterium is suspected so that special tests can be done. The organism can also be recovered from other sites, including the throat, lymph nodes, joint fluid, urine, bile, and blood.
|
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What is (are) Nephropathic cystinosis ?
|
Cystinosis is an inherited condition in which the body accumulates the amino acid cystine (a building block of proteins) within the cells. Excess cystine forms crystals that can build up and damage cells. These crystals can negatively affect many systems in the body, especially the kidneys and eyes. There are three distinct types of cystinosis: nephropathic cystinosis, intermediate cystinosis, and non-nephropathic or ocular cystinosis. All three types of cystinosis are caused by mutations in the CTNS gene and inherited in an autosomal recessive pattern.[1]
|
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62
] |
What is (are) High Blood Pressure and Kidney Disease ?
|
Blood pressure is the force of blood pushing against blood vessel walls as the heart pumps out blood, and high blood pressure, also called hypertension, is an increase in the amount of force that blood places on blood vessels as it moves through the body. Factors that can increase this force include higher blood volume due to extra fluid in the blood and blood vessels that are narrow, stiff, or clogged.
Blood pressure test results are written with two numbers separated by a slash. For example, a health care provider will write a blood pressure result as 120/80. A health care provider will say this blood pressure result as 120 over 80. The top number is called the systolic pressure and represents the pressure as the heart beats and pushes blood through the blood vessels. The bottom number is called the diastolic pressure and represents the pressure as blood vessels relax between heartbeats.
Most people without chronic health conditions have a normal blood pressure if it stays below 120/80. Prehypertension is a systolic pressure of 120 to 139 or a diastolic pressure of 80 to 89. High blood pressure is a systolic pressure of 140 or above or a diastolic pressure of 90 or above.1
People should talk with their health care provider about their individual blood pressure goals and how often they should have their blood pressure checked.
|
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How many people are affected by familial hemophagocytic lymphohistiocytosis ?
|
Familial hemophagocytic lymphohistiocytosis occurs in approximately 1 in 50,000 individuals worldwide.
|
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] |
How many people are affected by familial HDL deficiency ?
|
Familial HDL deficiency is a rare disorder, although the prevalence is unknown.
|
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What is (are) Vasculitis Syndromes of the Central and Peripheral Nervous Systems ?
|
Vasculitis is an inflammation of blood vessels, which includes the veins, arteries, and capillaries. Inflammation occurs with infection or is thought to be due to a faulty immune system response. It also can be caused by other immune system disease, an allergic reaction to medicines or toxins, and by certain blood cancers. Vasculitic disorders can cause problems in any organ system, including the central (CNS) and peripheral (PNS) nervous systems. Vasculitis disorders, or syndromes, of the CNS and PNS are characterized by the presence of inflammatory cells in and around blood vessels, and secondary narrowing or blockage of the blood vessels that nourish the brain, spinal cord, or peripheral nerves.
A vasculitic syndrome may begin suddenly or develop over time. Symptoms include headaches, especially a headache that doesnt go away; fever, rapid weight loss; confusion or forgetfulness leading to dementia; swelling of the brain, pain while chewing or swallowing; paralysis or numbness, usually in the arms or legs; and visual disturbances, such as double vision, blurred vision, or blindness
Some of the better understood vasculitis syndromes are temporal arteritis (also called giant cell arteritis or cranial arteritis--a chronic inflammatory disorder of large blood vessels) and Takayasus disease, which affects larger aortas and may cause stoke.
|
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What is (are) Bowel Incontinence ?
|
Bowel incontinence is the inability to control your bowels. When you feel the urge to have a bowel movement, you may not be able to hold it until you get to a toilet. Millions of Americans have this problem. It affects people of all ages - children and adults. It is more common in women and older adults. It is not a normal part of aging. Causes include - Constipation - Damage to muscles or nerves of the anus and rectum - Diarrhea - Pelvic support problems Treatments include changes in diet, medicines, bowel training, or surgery. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
|
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What is (are) metachromatic leukodystrophy ?
|
Metachromatic leukodystrophy is an inherited disorder characterized by the accumulation of fats called sulfatides in cells. This accumulation especially affects cells in the nervous system that produce myelin, the substance that insulates and protects nerves. Nerve cells covered by myelin make up a tissue called white matter. Sulfatide accumulation in myelin-producing cells causes progressive destruction of white matter (leukodystrophy) throughout the nervous system, including in the brain and spinal cord (the central nervous system) and the nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound (the peripheral nervous system). In people with metachromatic leukodystrophy, white matter damage causes progressive deterioration of intellectual functions and motor skills, such as the ability to walk. Affected individuals also develop loss of sensation in the extremities (peripheral neuropathy), incontinence, seizures, paralysis, an inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. While neurological problems are the primary feature of metachromatic leukodystrophy, effects of sulfatide accumulation on other organs and tissues have been reported, most often involving the gallbladder. The most common form of metachromatic leukodystrophy, affecting about 50 to 60 percent of all individuals with this disorder, is called the late infantile form. This form of the disorder usually appears in the second year of life. Affected children lose any speech they have developed, become weak, and develop problems with walking (gait disturbance). As the disorder worsens, muscle tone generally first decreases, and then increases to the point of rigidity. Individuals with the late infantile form of metachromatic leukodystrophy typically do not survive past childhood. In 20 to 30 percent of individuals with metachromatic leukodystrophy, onset occurs between the age of 4 and adolescence. In this juvenile form, the first signs of the disorder may be behavioral problems and increasing difficulty with schoolwork. Progression of the disorder is slower than in the late infantile form, and affected individuals may survive for about 20 years after diagnosis. The adult form of metachromatic leukodystrophy affects approximately 15 to 20 percent of individuals with the disorder. In this form, the first symptoms appear during the teenage years or later. Often behavioral problems such as alcoholism, drug abuse, or difficulties at school or work are the first symptoms to appear. The affected individual may experience psychiatric symptoms such as delusions or hallucinations. People with the adult form of metachromatic leukodystrophy may survive for 20 to 30 years after diagnosis. During this time there may be some periods of relative stability and other periods of more rapid decline. Metachromatic leukodystrophy gets its name from the way cells with an accumulation of sulfatides appear when viewed under a microscope. The sulfatides form granules that are described as metachromatic, which means they pick up color differently than surrounding cellular material when stained for examination.
|
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] |
What is (are) DICER1 syndrome ?
|
DICER1 syndrome is an inherited disorder that increases the risk of a variety of cancerous and noncancerous (benign) tumors, most commonly certain types of tumors that occur in the lungs, kidneys, ovaries, and thyroid (a butterfly-shaped gland in the lower neck). Affected individuals can develop one or more types of tumors, and members of the same family can have different types. However, the risk of tumor formation in individuals with DICER1 syndrome is only moderately increased compared with tumor risk in the general population; most individuals with genetic changes associated with this condition never develop tumors. People with DICER1 syndrome who develop tumors most commonly develop pleuropulmonary blastoma, which is characterized by tumors that grow in lung tissue or in the outer covering of the lungs (the pleura). These tumors occur in infants and young children and are rare in adults. Pleuropulmonary blastoma is classified as one of three types on the basis of tumor characteristics: in type I, the growths are composed of air-filled pockets called cysts; in type II, the growths contain both cysts and solid tumors (or nodules); and in type III, the growth is a solid tumor that can fill a large portion of the chest. Pleuropulmonary blastoma is considered cancerous, and types II and III can spread (metastasize), often to the brain, liver, or bones. Individuals with pleuropulmonary blastoma may also develop an abnormal accumulation of air in the chest cavity that can lead to the collapse of a lung (pneumothorax). Cystic nephroma, which involves multiple benign fluid-filled cysts in the kidneys, can also occur; in people with DICER1 syndrome, the cysts develop early in childhood. DICER1 syndrome is also associated with tumors in the ovaries known as Sertoli-Leydig cell tumors, which typically develop in affected women in their teens or twenties. Some Sertoli-Leydig cell tumors release the male sex hormone testosterone; in these cases, affected women may develop facial hair, a deep voice, and other male characteristics. Some affected women have irregular menstrual cycles. Sertoli-Leydig cell tumors usually do not metastasize. People with DICER1 syndrome are also at risk of multinodular goiter, which is enlargement of the thyroid gland caused by the growth of multiple fluid-filled or solid tumors (both referred to as nodules). The nodules are generally slow-growing and benign. Despite the growths, the thyroid's function is often normal. Rarely, individuals with DICER1 syndrome develop thyroid cancer (thyroid carcinoma).
|
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What is (are) 22q11.2 duplication syndrome ?
|
22q11.2 duplication syndrome is a condition caused by an extra copy of a small piece of chromosome 22 which contains about 30 to 40 genes. The features of this condition vary widely, even among members of the same family (intrafamilial variability). Affected individuals may have intellectual or learning disability, developmental delay, slow growth leading to short stature, and weak muscle tone (hypotonia). Many people with the condition have no apparent physical or intellectual disabilities. It is inherited in an autosomal dominant manner, with about 70% genes of affected individuals inheriting the condition from a parent. In other cases it occurs as a de novo mutation (new genetic change) in an individual; however, individuals with a de novo mutation can can pass the duplication to their children. Researchers are working to determine which duplicated genes may contribute to the developmental delay and other problems that sometimes affect people with this condition. Duplication is not detectable by karyotype and most of the people with 22q11.2 duplication syndrome are identified by a special technique known as chromosomal microarray. Treatment depends on the symptoms and includes an individualized educational program. Read more out chromosome 22.
|
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] |
What are the treatments for Costello syndrome ?
|
These resources address the diagnosis or management of Costello syndrome: - Gene Review: Gene Review: Costello Syndrome - Genetic Testing Registry: Costello syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
|
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What causes Balance Problems ?
|
Some balance disorders are caused by problems in the inner ear. The part of the inner ear that is responsible for balance is the vestibular system, often refered to as the labyrinth. When the labyrinth becomes infected or swollen -- a condition called labyrinthitis -- it is typically accompanied by vertigo and imbalance. Upper respiratory infections, other viral infections, and, less commonly, bacterial infections, can lead to labyrinthitis. Other balance disorders may involve another part of the body, such as the brain or the heart. For example, diseases of the circulatory system, such as stroke, can cause dizziness and other balance problems. Smoking and diabetes can increase the risk of stroke. Low blood pressure also can cause dizziness. Aging, infections, head injury, and many medicines may also result in a balance problem.
|
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What are the symptoms of Gollop Coates syndrome ?
|
What are the signs and symptoms of Gollop Coates syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Gollop Coates syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Broad forehead 33% Highly arched eyebrow 33% Long philtrum 33% Sparse eyebrow 33% Aortic regurgitation - Aortic valve stenosis - Arthralgia - Arthropathy - Autosomal dominant inheritance - Autosomal recessive inheritance - Barrel-shaped chest - Bilateral single transverse palmar creases - Brachydactyly syndrome - Camptodactyly of finger - Coronal cleft vertebrae - Cubitus valgus - Decreased hip abduction - Delayed eruption of teeth - Delayed gross motor development - Delayed skeletal maturation - Deviation of the 5th finger - Elbow dislocation - Fixed elbow flexion - Flattened epiphysis - Generalized bone demineralization - Genu valgum - Hearing impairment - High palate - Hypertelorism - Hypoplasia of the capital femoral epiphysis - Hypoplasia of the ulna - Intervertebral space narrowing - Irregular vertebral endplates - Knee dislocation - Kyphoscoliosis - Limited hip extension - Lumbar hyperlordosis - Microdontia - Microtia - Mitral regurgitation - Mitral stenosis - Multiple carpal ossification centers - Narrow vertebral interpedicular distance - Pes planus - Pulmonary hypertension - Pulmonic stenosis - Rhizomelia - Short distal phalanx of finger - Short femoral neck - Short metacarpal - Short neck - Short phalanx of finger - Shoulder dislocation - Small epiphyses - Spondyloepiphyseal dysplasia - Talipes equinovarus - Tibial bowing - Tricuspid regurgitation - Tricuspid stenosis - Ulnar bowing - Ventricular hypertrophy - Ventricular septal defect - Waddling gait - Wide intermamillary distance - Widely spaced teeth - 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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] |
What are the genetic changes related to Wilson disease ?
|
Wilson disease is caused by mutations in the ATP7B gene. This gene provides instructions for making a protein called copper-transporting ATPase 2, which plays a role in the transport of copper from the liver to other parts of the body. Copper is necessary for many cellular functions, but it is toxic when present in excessive amounts. The copper-transporting ATPase 2 protein is particularly important for the elimination of excess copper from the body. Mutations in the ATP7B gene prevent the transport protein from functioning properly. With a shortage of functional protein, excess copper is not removed from the body. As a result, copper accumulates to toxic levels that can damage tissues and organs, particularly the liver and brain. Research indicates that a normal variation in the PRNP gene may modify the course of Wilson disease. The PRNP gene provides instructions for making prion protein, which is active in the brain and other tissues and appears to be involved in transporting copper. Studies have focused on the effects of a PRNP gene variation that affects position 129 of the prion protein. At this position, people can have either the protein building block (amino acid) methionine or the amino acid valine. Among people who have mutations in the ATP7B gene, it appears that having methionine instead of valine at position 129 of the prion protein is associated with delayed onset of symptoms and an increased occurrence of neurological symptoms, particularly tremors. Larger studies are needed, however, before the effects of this PRNP gene variation on Wilson disease can be established.
|
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273,
6714,
14295,
432,
253,
2133,
15,
15601,
569,
275,
253,
14809,
24,
35,
3320,
3657,
253,
4616,
2601,
432,
15415,
6283,
15,
2726,
247,
28938,
273,
5164,
2601,
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6714,
14295,
310,
417,
5176,
432,
253,
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1284,
247,
906,
13,
14295,
7358,
17815,
281,
12825,
2308,
326,
476,
4723,
7944,
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15384,
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6728,
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3998,
15,
50276,
28743,
6492,
326,
247,
2622,
7629,
275,
253,
4653,
11236,
3320,
778,
10007,
253,
2282,
273,
10520,
2728,
15,
380,
4653,
11236,
3320,
3400,
7997,
323,
2403,
819,
279,
2601,
13,
534,
310,
3939,
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253,
3998,
285,
643,
7944,
285,
4620,
281,
320,
3206,
275,
34991,
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11709,
452,
7106,
327,
253,
2538,
273,
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4653,
11236,
3320,
7629,
326,
11852,
1899,
17181,
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819,
279,
2601,
15,
2058,
436,
1899,
13,
952,
476,
452,
2057,
253,
2601,
3652,
2972,
313,
19741,
3527,
10,
10258,
41568,
390,
253,
8898,
3527,
821,
460,
15,
9658,
952,
665,
452,
9197,
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253,
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35,
3320,
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352,
4620,
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1907,
10258,
41568,
3185,
273,
821,
460,
387,
1899,
17181,
273,
253,
819,
279,
2601,
310,
2330,
342,
13444,
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273,
5917,
285,
271,
2559,
12340,
273,
20967,
5917,
13,
3782,
11820,
641,
15,
10374,
1063,
2175,
403,
3058,
13,
2299,
13,
1078,
253,
2538,
273,
436,
4653,
11236,
3320,
7629,
327,
10520,
2728,
476,
320,
4232,
15
] |
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