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What are the treatments for Doyne honeycomb retinal dystrophy ?
|
How might Doyne honeycomb retinal dystrophy (DHRD) be treated? There is currently no cure for Doyne honeycomb retinal dystrophy (DHRD) and treatment options are limited. Management of hereditary retinal dystrophies generally focuses on vision rehabilitation, which involves the use of low vision aids, orientation, and mobility training. The goal of visual rehabilitation is to reach maximum function, a sense of well being, a personally satisfying level of independence, and optimum quality of life. Choroidal neovascularization (CNV), the growth of new blood vessels in the choroid, can develop in people with DHRD and has a poor visual prognosis. The authors of a 2011 study reported that 2 people with DHRD and CNV were treated with a course of intravitreal bevacizumab (injected into the eye). This treatment stopped fluid leakage and led to increased visual acuity. They proposed that recovery of visual acuity after treatment of CNV in these cases shows that the loss of retinal function may be reversible. However, this finding needs to be confirmed in more studies with a larger number of participants. There was also a case report of a person with malattia leventinese (a condition very similar to DHRD and sometimes considered the same) who was treated successfully with photodynamic therapy using verteporfin. The treatment reportedly prevented severe visual loss in the patient. The authors of this case report proposed that photodynamic therapy be considered as a possible treatment in patients with malattia leventinese or DHRD who develop CNV. You may consider participating in a clinical trial for treatment of retinal dystrophy. The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov to provide patients, family members, and members of the public with current information on clinical research studies. There are many clinical trials currently enrolling individuals with hereditary retinal dystrophy. View a list of these studies here. After you click on a study, review its eligibility criteria to determine its appropriateness. We suggest reviewing the list of studies with your physician. Use the studys contact information to learn more. You can check this site often for regular updates. Use "retinal dystrophy" or "Doyne honeycomb retinal dystrophy" as your search term.
|
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What are the complications of Primary Sclerosing Cholangitis ?
|
PSC can lead to various complications, including
- deficiencies of vitamins A, D, E, and K - infections of the bile ducts - cirrhosisextensive scarring of the liver - liver failure - bile duct cancer
|
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How to diagnose Heart Failure ?
|
Your doctor will diagnose heart failure based on your medical and family histories, a physical exam, and test results. The signs and symptoms of heart failure also are common in other conditions. Thus, your doctor will:
Find out whether you have a disease or condition that can cause heart failure, such as coronary heart disease (CHD), high blood pressure, or diabetes
Rule out other causes of your symptoms
Find any damage to your heart and check how well your heart pumps blood
Early diagnosis and treatment can help people who have heart failure live longer, more active lives.
Medical and Family Histories
Your doctor will ask whether you or others in your family have or have had a disease or condition that can cause heart failure.
Your doctor also will ask about your symptoms. He or she will want to know which symptoms you have, when they occur, how long you've had them, and how severe they are. Your answers will help show whether and how much your symptoms limit your daily routine.
Physical Exam
During the physical exam, your doctor will:
Listen to your heart for sounds that aren't normal
Listen to your lungs for the sounds of extra fluid buildup
Look for swelling in your ankles, feet, legs, abdomen, and the veins in your neck
Diagnostic Tests
No single test can diagnose heart failure. If you have signs and symptoms of heart failure, your doctor may recommend one or more tests.
Your doctor also may refer you to a cardiologist. A cardiologist is a doctor who specializes in diagnosing and treating heart diseases and conditions.
EKG (Electrocardiogram)
An EKG is a simple, painless test that detects and records the heart's electrical activity. The test shows how fast your heart is beating and its rhythm (steady or irregular). An EKG also records the strength and timing of electrical signals as they pass through your heart.
An EKG may show whether the walls in your heart's pumping chambers are thicker than normal. Thicker walls can make it harder for your heart to pump blood. An EKG also can show signs of a previous or current heart attack.
Chest X Ray
A chest x raytakes pictures of the structures inside your chest, such as your heart, lungs, and blood vessels. This test can show whether your heart is enlarged, you have fluid in your lungs, or you have lung disease.
BNP Blood Test
This test checks the level of a hormone in your blood called BNP. The level of this hormone rises during heart failure.
Echocardiography
Echocardiography (echo) uses sound waves to create a moving picture of your heart. The test shows the size and shape of your heart and how well your heart chambers and valves work.
Echo also can identify areas of poor blood flow to the heart, areas of heart muscle that aren't contracting normally, and heart muscle damage caused by lack of blood flow.
Echo might be done before and after a stress test (see below). A stress echo can show how well blood is flowing through your heart. The test also can show how well your heart pumps blood when it beats.
Doppler Ultrasound
A Doppler ultrasound uses sound waves to measure the speed and direction of blood flow. This test often is done with echo to give a more complete picture of blood flow to the heart and lungs.
Doctors often use Doppler ultrasound to help diagnose right-side heart failure.
Holter Monitor
A Holter monitor records your heart's electrical activity for a full 24- or 48-hour period, while you go about your normal daily routine.
You wear small patches called electrodes on your chest. Wires connect the patches to a small, portable recorder. The recorder can be clipped to a belt, kept in a pocket, or hung around your neck.
Nuclear Heart Scan
A nuclear heart scan shows how well blood is flowing through your heart and how much blood is reaching your heart muscle.
During a nuclear heart scan, a safe, radioactive substance called a tracer is injected into your bloodstream through a vein. The tracer travels to your heart and releases energy. Special cameras outside of your body detect the energy and use it to create pictures of your heart.
A nuclear heart scan can show where the heart muscle is healthy and where it's damaged.
A positron emission tomography (PET) scan is a type of nuclear heart scan. It shows the level of chemical activity in areas of your heart. This test can help your doctor see whether enough blood is flowing to these areas. A PET scan can show blood flow problems that other tests might not detect.
Cardiac Catheterization
During cardiac catheterization (KATH-eh-ter-ih-ZA-shun), a long, thin, flexible tube called a catheter is put into a blood vessel in your arm, groin (upper thigh), or neck and threaded to your heart. This allows your doctor to look inside your coronary (heart) arteries.
During this procedure, your doctor can check the pressure and blood flow in your heart chambers, collect blood samples, and use x rays to look at your coronary arteries.
Coronary Angiography
Coronary angiography (an-jee-OG-rah-fee) usually is done with cardiac catheterization. A dye that can be seen on x ray is injected into your bloodstream through the tip of the catheter.
The dye allows your doctor to see the flow of blood to your heart muscle. Angiography also shows how well your heart is pumping.
Stress Test
Some heart problems are easier to diagnose when your heart is working hard and beating fast. During stress testing, you exercise to make your heart work hard and beat fast.
You may walk or run on a treadmill or pedal a bicycle. If you can't exercise, you may be given medicine to raise your heart rate.
Heart tests, such as nuclear heart scanning and echo, often are done during stress testing.
Cardiac MRI
Cardiac MRI (magnetic resonance imaging) uses radio waves, magnets, and a computer to create pictures of your heart as it's beating. The test produces both still and moving pictures of your heart and major blood vessels.
A cardiac MRI can show whether parts of your heart are damaged. Doctors also have used MRI in research studies to find early signs of heart failure, even before symptoms appear.
Thyroid Function Tests
Thyroid function tests show how well your thyroid gland is working. These tests include blood tests, imaging tests, and tests to stimulate the thyroid. Having too much or too little thyroid hormone in the blood can lead to heart failure.
|
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] |
what are the symptoms of botulism?
|
The classic symptoms of botulism include double vision, blurred vision, drooping eyelids, slurred speech, difficulty swallowing, dry mouth, and muscle weakness. Infants with botulism appear lethargic, feed poorly, are constipated, and have a weak cry and poor muscle tone. These are all symptoms of the muscle paralysis caused by the bacterial toxin. If untreated, these symptoms may progress to cause paralysis of the respiratory muscles, arms, legs, and trunk. In foodborne botulism, symptoms generally begin 18 to 36 hours after eating a contaminated food, but they can occur as early as 6 hours or as late as 10 days.
|
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What is (are) Bilateral generalized polymicrogyria ?
|
Bilateral generalized polymicrogyria is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). This is the most widespread form of polymicrogyria and typically affects the entire surface of the brain. Signs and symptoms include severe intellectual disability, problems with movement, and seizures that are difficult or impossible to treat. While the exact cause of bilateral generalized polymicrogyria is not fully understood, it is thought to be due to improper brain development during embryonic growth. Most cases appear to follow an autosomal recessive pattern of inheritance. Treatment is based on the signs and symptoms present in each person.
|
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What are the treatments for Erdheim-Chester disease ?
|
These resources address the diagnosis or management of Erdheim-Chester disease: - Histiocytosis Association: Erdheim-Chester Disease Diagnosis and Treatment 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 Weaver syndrome ?
|
These resources address the diagnosis or management of Weaver syndrome: - Genetic Testing Registry: Weaver 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 are the symptoms of Keratoconus posticus circumscriptus ?
|
What are the signs and symptoms of Keratoconus posticus circumscriptus? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratoconus posticus circumscriptus. 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 vertebral segmentation and fusion - Autosomal recessive inheritance - Brachydactyly syndrome - Central posterior corneal opacity - Cleft palate - Cleft upper lip - Clinodactyly of the 5th finger - Growth delay - Hypertelorism - Keratoconus - Limited elbow extension and supination - Recurrent urinary tract infections - Short neck - Vesicoureteral reflux - Webbed neck - 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 Anemia ?
|
Treatment for anemia depends on the type, cause, and severity of the condition. Treatments may include dietary changes or supplements, medicines, procedures, or surgery to treat blood loss.
Goals of Treatment
The goal of treatment is to increase the amount of oxygen that your blood can carry. This is done by raising the red blood cell count and/or hemoglobin level. (Hemoglobin is the iron-rich protein in red blood cells that carries oxygen to the body.)
Another goal is to treat the underlying cause of the anemia.
Dietary Changes and Supplements
Low levels of vitamins or iron in the body can cause some types of anemia. These low levels might be the result of a poor diet or certain diseases or conditions.
To raise your vitamin or iron level, your doctor may ask you to change your diet or take vitamin or iron supplements. Common vitamin supplements are vitamin B12 and folic acid (folate). Vitamin C sometimes is given to help the body absorb iron.
Iron
Your body needs iron to make hemoglobin. Your body can more easily absorb iron from meats than from vegetables or other foods. To treat your anemia, your doctor may suggest eating more meatespecially red meat (such as beef or liver), as well as chicken, turkey, pork, fish, and shellfish.
Nonmeat foods that are good sources of iron include:
Spinach and other dark green leafy vegetables
Tofu
Peas; lentils; white, red, and baked beans; soybeans; and chickpeas
Dried fruits, such as prunes, raisins, and apricots
Prune juice
Iron-fortified cereals and breads
You can look at the Nutrition Facts label on packaged foods to find out how much iron the items contain. The amount is given as a percentage of the total amount of iron you need every day.
Iron also is available as a supplement. It's usually combined with multivitamins and other minerals that help your body absorb iron.
Doctors may recommend iron supplements for premature infants, infants and young children who drink a lot of cow's milk, and infants who are fed breast milk only or formula that isn't fortified with iron.
Large amounts of iron can be harmful, so take iron supplements only as your doctor prescribes.
Vitamin B12
Low levels of vitamin B12 can lead to pernicious anemia. This type of anemia often is treated with vitamin B12 supplements.
Good food sources of vitamin B12 include:
Breakfast cereals with added vitamin B12
Meats such as beef, liver, poultry, and fish
Eggs and dairy products (such as milk, yogurt, and cheese)
Foods fortified with vitamin B12, such as soy-based beverages and vegetarian burgers
Folic Acid
Folic acid (folate) is a form of vitamin B that's found in foods. Your body needs folic acid to make and maintain new cells. Folic acid also is very important for pregnant women. It helps them avoid anemia and promotes healthy growth of the fetus.
Good sources of folic acid include:
Bread, pasta, and rice with added folic acid
Spinach and other dark green leafy vegetables
Black-eyed peas and dried beans
Beef liver
Eggs
Bananas, oranges, orange juice, and some other fruits and juices
Vitamin C
Vitamin C helps the body absorb iron. Good sources of vitamin C are vegetables and fruits, especially citrus fruits. Citrus fruits include oranges, grapefruits, tangerines, and similar fruits. Fresh and frozen fruits, vegetables, and juices usually have more vitaminC than canned ones.
If you're taking medicines, ask your doctor or pharmacist whether you can eat grapefruit or drink grapefruit juice. This fruit can affect the strength of a few medicines and how well they work.
Other fruits rich in vitamin C include kiwi fruit, strawberries, and cantaloupes.
Vegetables rich in vitamin C include broccoli, peppers, Brussels sprouts, tomatoes, cabbage, potatoes, and leafy green vegetables like turnip greens and spinach.
Medicines
Your doctor may prescribe medicines to help your body make more red blood cells or to treat an underlying cause of anemia. Some of these medicines include:
Antibiotics to treat infections.
Hormones to treat heavy menstrual bleeding in teenaged and adult women.
A man-made version of erythropoietin to stimulate your body to make more red blood cells. This hormone has some risks. You and your doctor will decide whether the benefits of this treatment outweigh the risks.
Medicines to prevent the body's immune system from destroying its own red blood cells.
Chelation (ke-LAY-shun) therapy for lead poisoning. Chelation therapy is used mainly in children. This is because children who have iron-deficiency anemia are at increased risk of lead poisoning.
Procedures
If your anemia is severe, your doctor may recommend a medical procedure. Procedures include blood transfusions and blood and marrow stem cell transplants.
Blood Transfusion
A blood transfusion is a safe, common procedure in which blood is given to you through an intravenous (IV) line in one of your blood vessels. Transfusions require careful matching of donated blood with the recipient's blood.
For more information, go to the Health Topics Blood Transfusion article.
Blood and Marrow Stem Cell Transplant
A blood and marrow stem cell transplant replaces your faulty stem cells with healthy ones from another person (a donor). Stem cells are made in the bone marrow. They develop into red and white blood cells and platelets.
During the transplant, which is like a blood transfusion, you get donated stem cells through a tube placed in a vein in your chest. Once the stem cells are in your body, they travel to your bone marrow and begin making new blood cells.
For more information, go to the Health Topics Blood and Marrow Stem Cell Transplant article.
Surgery
If you have serious or life-threatening bleeding that's causing anemia, you may need surgery. For example, you may need surgery to control ongoing bleeding due to a stomach ulcer or colon cancer.
If your body is destroying red blood cells at a high rate, you may need to have your spleen removed. The spleen is an organ that removes wornout red blood cells from the body. An enlarged or diseased spleen may remove more red blood cells than normal, causing anemia.
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] |
What are the symptoms of High Blood Pressure ?
|
High blood pressure is often called the "silent killer" because you can have it for years without knowing it. The only way to find out if you have high blood pressure is to have your blood pressure measured. Complications When blood pressure stays high over time, it can damage the body and cause complications. Here are some of the common complications, along with their signs and symptoms. - Aneurysms. These occur when an abnormal bulge forms in the wall of an artery. Aneurysms develop and grow for years without causing signs or symptoms until they rupture, grow large enough to press on nearby body parts, or block blood flow. The signs and symptoms that develop depend on the location of the aneurysm. - Chronic Kidney Disease. This disease occurs when blood vessels narrow in the kidneys, possibly causing kidney failure. - Cognitive Changes Research shows that over time, higher blood pressure numbers can lead to cognitive changes. Signs and symptoms include memory loss, difficulty finding words, and losing focus during conversations. - Eye Damage. This condition occurs when blood vessels in the eyes burst or bleed. Signs and symptoms include vision changes or blindness. - Heart Attack. This occurs when the flow of oxygen-rich blood to a section of heart muscle suddenly becomes blocked and the heart doesnt get oxygen. The most common warning symptoms of a heart attack are chest pain or discomfort, upper body discomfort, and shortness of breath. - Heart Failure. This condition occurs when the heart cant pump enough blood to meet the bodys needs. Common signs and symptoms of heart failure include shortness of breath or trouble breathing; feeling tired; and swelling in the ankles, feet, legs, abdomen, and veins in the neck. - Peripheral Arterial Disease. This is a disease in which plaque builds up in leg arteries and affects blood flow in the legs. When people have symptoms, the most common are pain, cramping, numbness, aching, or heaviness in the legs, feet, and buttocks after walking or climbing stairs. - Stroke. A stroke occurs when the flow of oxygen-rich blood to a portion of the brain is blocked. The symptoms of a stroke include sudden onset of weakness; paralysis or numbness of the face, arms, or legs; trouble speaking or understanding speech; and trouble seeing. Aneurysms. These occur when an abnormal bulge forms in the wall of an artery. Aneurysms develop and grow for years without causing signs or symptoms until they rupture, grow large enough to press on nearby body parts, or block blood flow. The signs and symptoms that develop depend on the location of the aneurysm. Chronic Kidney Disease. This disease occurs when blood vessels narrow in the kidneys, possibly causing kidney failure. Cognitive Changes Research shows that over time, higher blood pressure numbers can lead to cognitive changes. Signs and symptoms include memory loss, difficulty finding words, and losing focus during conversations. Eye Damage. This condition occurs when blood vessels in the eyes burst or bleed. Signs and symptoms include vision changes or blindness. Heart Attack. This occurs when the flow of oxygen-rich blood to a section of heart muscle suddenly becomes blocked and the heart doesnt get oxygen. The most common warning symptoms of a heart attack are chest pain or discomfort, upper body discomfort, and shortness of breath. Heart Failure. This condition occurs when the heart cant pump enough blood to meet the bodys needs. Common signs and symptoms of heart failure include shortness of breath or trouble breathing; feeling tired; and swelling in the ankles, feet, legs, abdomen, and veins in the neck. Peripheral Arterial Disease. This is a disease in which plaque builds up in leg arteries and affects blood flow in the legs. When people have symptoms, the most common are pain, cramping, numbness, aching, or heaviness in the legs, feet, and buttocks after walking or climbing stairs. Stroke. A stroke occurs when the flow of oxygen-rich blood to a portion of the brain is blocked. The symptoms of a stroke include sudden onset of weakness; paralysis or numbness of the face, arms, or legs; trouble speaking or understanding speech; and trouble seeing. How Blood Pressure Is Checked Your health care provider usually takes 23 readings at several medical appointments to diagnose high blood pressure. Based on the results of your blood pressure test, your health care provider will diagnose prehypertension or high blood pressure if your systolic or diastolic readings are consistently higher than 120/80 mmHg. Once your health care provider determines the severity of your blood pressure, he or she can order additional tests to determine if your blood pressure is due to other conditions or medicines or if you have primary high blood pressure. Health care providers can use this information to develop your treatment plan. Some people have white coat hypertension. This happens when blood pressure readings are only high when taken in a health care providers office compared with readings taken in any other location. Researchers believe stress, which can occur during the medical appointment, causes white coat hypertension. Preparing for the Test A blood pressure test is easy and painless and can be done in a health care providers office or clinic. To prepare for the test - dont drink coffee or smoke cigarettes for 30 minutes prior to the test - go to the bathroom before the test. A full bladder can change the reading - sit for 5 minutes before the test. dont drink coffee or smoke cigarettes for 30 minutes prior to the test go to the bathroom before the test. A full bladder can change the reading sit for 5 minutes before the test. To track blood pressure readings over a period of time, the health care provider may ask you to come into the office on different days and at different times to take your blood pressure. The health care provider also may ask you to check readings at home or at other locations that have blood pressure equipment and to keep a written log of all your results. Whenever you have an appointment with the health care provider, be sure to bring your log of blood pressure readings. Ask the doctor or nurse to tell you your blood pressure reading in numbers and to explain what the numbers mean. Write down your numbers or ask the doctor or nurse to write them down for you. Write Down Your Readings Ask the doctor or nurse to tell you your blood pressure reading in numbers and to explain what the numbers mean. Write down your numbers or ask the doctor or nurse to write them down for you. (The wallet card on the right can be printed out and used to record your blood pressure numbers.) Checking Your Own Blood Pressure You can also check your blood pressure at home with a home blood pressure measurement device or monitor. It is important that the blood pressure cuff fits you properly and that you understand how to use the monitor. A cuff that is too small, for example, can give you a reading that is higher than your actual blood pressure. Your doctor, nurse, or pharmacist can help you check the cuff size and teach you how to use it correctly. You may also ask for their help in choosing the right blood pressure monitor for you. Blood pressure monitors can be bought at discount chain stores and drug stores. When you are taking your blood pressure at home, sit with your back supported and your feet flat on the floor. Rest your arm on a table at the level of your heart. After a Diagnosis If you're diagnosed with high blood pressure, your doctor will prescribe treatment. Your blood pressure will be tested again to see how the treatment affects it. Once your blood pressure is under control, you'll still need treatment. "Under control" means that your blood pressure numbers are in the normal range. Your doctor will likely recommend routine blood pressure tests. He or she can tell you how often you should be tested. The sooner you find out about high blood pressure and treat it, the better. Early treatment may help you avoid problems such as heart attack, stroke and kidney failure. See tips for talking with your doctor after you receive a medical diagnosis.
|
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What causes Madelung disease ?
|
What causes Madelung disease? The exact underlying cause of Madelung disease remains unknown, but several theories have been proposed. The body's inability to properly metabolize fat in affected people suggests that Madelung disease may be an endocrine disorder. An enzyme defect or a change in the surface of cells could prevent the breakdown of fat leading to the characteristic signs and symptoms of the condition. Alcohol consumption may also play a role in the development of Madelung disease since roughly 90% of affected people have a history of alcohol abuse. Madelung disease has also been linked to genetic factors. Rarely, more than one family member can be affected by this condition which suggests that it may be inherited in at least some cases. In the majority of these families, the mode of inheritance has not been determined. However, changes (mutations) in mitochondrial DNA have been identified in some families who have Madelung disease in combination with other conditions that affect many different systems of the body.
|
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What are the treatments for Urinary Tract Infections in Children ?
|
Some abnormalities in the urinary tract correct themselves as the child grows, but some may require surgical correction. While milder forms of VUR may resolve on their own, one common procedure to correct VUR is the reimplantation of the ureters. During this procedure, the surgeon repositions the connection between the ureters and the bladder so that urine will not reflux into the ureters and kidneys. This procedure may be performed through an incision that gives the surgeon a direct view of the bladder and ureters or laparoscopically. Laparoscopy is a procedure that uses a scope inserted through a small incision.
In recent years, health care providers have treated some cases of VUR by injecting substances into the bladder wall, just below the opening where the ureter joins the bladder. This injection creates a kind of narrowing or valve that keeps urine from refluxing into the ureters. The injection is delivered to the inside of the bladder through a catheter passed through the urethra, so there is no surgical incision. Evidence of clinically significant obstruction may indicate the need for surgery.
|
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What are the treatments for Broken Heart Syndrome ?
|
Even though broken heart syndrome may feel like a heart attack, its a very different problem that needs a different type of treatment.
The good news is that broken heart syndrome is usually treatable, and most people make a full recovery. Most people who experience broken heart syndrome stay in the hospital for a few days to a week.
Initial treatment is aimed at improving blood flow to the heart, and may be similar to that for a heart attack until the diagnosis is clear. Further treatment can include medicines and lifestyle changes.
Medicines
Doctors may prescribe medicines to relieve fluid buildup, treat blood pressure problems, prevent blood clots, and manage stress hormones. Medicines are often discontinued once heart function has returned to normal.
Your doctor may prescribe the following medicines:
ACE inhibitors (or angiotensin-converting enzyme inhibitors), to lower blood pressure and reduce strain on your heart
Beta blockers, to slow your heart rate and lower your blood pressure to decrease your hearts workload
Diuretics (water or fluid pills), to help reduce fluid buildup in your lungs and swelling in your feet and ankles
Anti-anxiety medicines, to help manage stress hormones
Take all of your medicines as prescribed. If you have side effects or other problems related to your medicines, tell your doctor. He or she may be able to provide other options.
Treatment of Complications
Broken heart syndrome can be life threatening in some cases. Because the syndrome involves severe heart muscle weakness, patients can experience shock, heart failure, low blood pressure, and potentially life-threatening heart rhythm abnormalities.
The good news is that this condition improves very quickly, so with proper diagnosis and management, even the most critically ill tend to make a quick and complete recovery.
Lifestyle Changes
To stay healthy, its important to find ways to reduce stress and cope with particularly upsetting situations. Learning how to manage stress, relax, and cope with problems can improve your emotional and physical health.
Having supportive people in your life with whom you can share your feelings or concerns can help relieve stress. Physical activity, medicine, and relaxation therapy also can help relieve stress. You may want to consider taking part in a stress management program.
Treatments Not Helpful for Broken Heart Syndrome
Several procedures used to treat a heart attack are not helpful in treating broken heart syndrome. These procedurespercutaneous coronary intervention (sometimes referred to as angioplasty), stent placement, and surgerytreat blocked arteries, which is not the cause of broken heart syndrome.
|
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273,
7154,
2798,
9237,
15
] |
How to diagnose Autoimmune hepatitis ?
|
How is autoimmune hepatitis diagnosed? The diagnosis of autoimmune hepatitis is typically made based on symptoms, blood tests, and a liver biopsy.
|
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What is (are) multiple sulfatase deficiency ?
|
Multiple sulfatase deficiency is a condition that mainly affects the brain, skin, and skeleton. Because the signs and symptoms of multiple sulfatase deficiency vary widely, researchers have split the condition into three types: neonatal, late-infantile, and juvenile. The neonatal type is the most severe form, with signs and symptoms appearing soon after birth. Affected individuals have deterioration of tissue in the nervous system (leukodystrophy), which can contribute to movement problems, seizures, developmental delay, and slow growth. They also have dry, scaly skin (ichthyosis) and excess hair growth (hypertrichosis). Skeletal abnormalities can include abnormal side-to-side curvature of the spine (scoliosis), joint stiffness, and dysostosis multiplex, which refers to a specific pattern of skeletal abnormalities seen on x-ray. Individuals with the neonatal type typically have facial features that can be described as "coarse." Affected individuals may also have hearing loss, heart malformations, and an enlarged liver and spleen (hepatosplenomegaly). Many of the signs and symptoms of neonatal multiple sulfatase deficiency worsen over time. The late-infantile type is the most common form of multiple sulfatase deficiency. It is characterized by normal cognitive development in early childhood followed by a progressive loss of mental abilities and movement (psychomotor regression) due to leukodystrophy or other brain abnormalities. Individuals with this form of the condition do not have as many features as those with the neonatal type, but they often have ichthyosis, skeletal abnormalities, and coarse facial features. The juvenile type is the rarest form of multiple sulfatase deficiency. Signs and symptoms of the juvenile type appear in mid- to late childhood. Affected individuals have normal early cognitive development but then experience psychomotor regression; however, the regression in the juvenile type usually occurs at a slower rate than in the late-infantile type. Ichthyosis is also common in the juvenile type of multiple sulfatase deficiency. Life expectancy is shortened in individuals with all types of multiple sulfatase deficiency. Typically, affected individuals survive only a few years after the signs and symptoms of the condition appear, but life expectancy varies depending on the severity of the condition and how quickly the neurological problems worsen.
|
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] |
What is (are) Proctitis ?
|
Proctitis is inflammation of the lining of the rectum, the lower end of the large intestine leading to the anus. The large intestine and anus are part of the gastrointestinal (GI) tract. The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anus. The movement of muscles in the GI tract, along with the release of hormones and enzymes, allows for the digestion of food. With proctitis, inflammation of the rectal liningcalled the rectal mucosais uncomfortable and sometimes painful. The condition may lead to bleeding or mucous discharge from the rectum, among other symptoms.
|
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What are the symptoms of Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency ?
|
What are the signs and symptoms of Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Congenital adrenal hyperplasia - Increased circulating ACTH level - 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 Respiratory Distress Syndrome ?
|
Signs and symptoms of respiratory distress syndrome (RDS) usually occur at birth or within the first few hours that follow. They include:
Rapid, shallow breathing
Sharp pulling in of the chest below and between the ribs with each breath
Grunting sounds
Flaring of the nostrils
The infant also may have pauses in breathing that last for a few seconds. This condition is called apnea (AP-ne-ah).
Respiratory Distress Syndrome Complications
Depending on the severity of an infant's RDS, he or she may develop other medical problems.
Lung Complications
Lung complications may include a collapsed lung (atelectasis), leakage of air from the lung into the chest cavity (pneumothorax), and bleeding in the lung (hemorrhage).
Some of the life-saving treatments used for RDS may cause bronchopulmonary dysplasia, another breathing disorder.
Blood and Blood Vessel Complications
Infants who have RDS may develop sepsis, an infection of the bloodstream. This infection can be life threatening.
Lack of oxygen may prevent a fetal blood vessel called the ductus arteriosus from closing after birth as it should. This condition is called patent ductus arteriosus, or PDA.
The ductus arteriosus connects a lung artery to a heart artery. If it remains open, it can strain the heart and increase blood pressure in the lung arteries.
Other Complications
Complications of RDS also may include blindness and other eye problems and a bowel disease called necrotizing enterocolitis (EN-ter-o-ko-LI-tis). Infants who have severe RDS can develop kidney failure.
Some infants who have RDS develop bleeding in the brain. This bleeding can delay mental development. It also can cause mental retardation or cerebral palsy.
|
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671,
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2847,
6255,
48112,
390,
16562,
39839,
90,
15
] |
What are the treatments for SADDAN ?
|
These resources address the diagnosis or management of SADDAN: - Gene Review: Gene Review: Achondroplasia - Genetic Testing Registry: Severe achondroplasia with developmental delay and acanthosis nigricans - MedlinePlus Encyclopedia: Acanthosis Nigricans 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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How to prevent Glaucoma ?
|
At this time, we do not know how to prevent glaucoma. However, studies have shown that the early detection and treatment of glaucoma, before it causes major vision loss, is the best way to control the disease. So, if you fall into one of the higher risk groups for the disease, make sure to have a comprehensive dilated eye exam at least once every one to two years. Get tips on finding an eye care professional. Learn what a comprehensive dilated eye exam involves.
|
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How many people are affected by metachromatic leukodystrophy ?
|
Metachromatic leukodystrophy is reported to occur in 1 in 40,000 to 160,000 individuals worldwide. The condition is more common in certain genetically isolated populations: 1 in 75 in a small group of Jews who immigrated to Israel from southern Arabia (Habbanites), 1 in 2,500 in the western portion of the Navajo Nation, and 1 in 8,000 among Arab groups in Israel.
|
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2390,
275,
5143,
15
] |
What are the symptoms of Multiple myeloma ?
|
What are the signs and symptoms of Multiple myeloma? In some cases, multiple myeloma is not associated with any signs and symptoms. When present, the most common symptom is anemia (low red blood cell count), which can be associated with fatigue, shortness of breath, and dizziness. Other features of the condition may include: Bone pain Nausea Constipation Loss of appetite Frequent infections Weight loss Excessive thirst Weakness and/or numbness in the arms and legs Confusion Abnormal bleeding Weak bones that may break easily Difficulty breathing The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple myeloma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Multiple myeloma - Somatic mutation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
|
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What are the symptoms of Pulmonary vein stenosis ?
|
What are the signs and symptoms of Pulmonary vein stenosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary vein stenosis. 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) Hypertension 90% Respiratory insufficiency 50% Abnormality of the cardiac septa 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
|
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What is (are) Plague ?
|
Plague is an infection caused by the bacterium Yersinia pestis. The bacteria are found mainly in rats and in the fleas that feed on them. People and other animals can get plague from rat or flea bites. In the past, plague destroyed entire civilizations. Today plague is uncommon, due to better living conditions and antibiotics. There are three forms of plague: - Bubonic plague causes the tonsils, adenoids, spleen, and thymus to become inflamed. Symptoms include fever, aches, chills, and tender lymph glands. - In septicemic plague, bacteria multiply in the blood. It causes fever, chills, shock, and bleeding under the skin or other organs. - Pneumonic plague is the most serious form. Bacteria enter the lungs and cause pneumonia. People with the infection can spread this form to others. This type could be a bioterror agent. Lab tests can diagnose plague. Treatment is a strong antibiotic. There is no vaccine. NIH: National Institute of Allergy and Infectious Diseases
|
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What are the symptoms of Midphalangeal hair ?
|
What are the signs and symptoms of Midphalangeal hair? The Human Phenotype Ontology provides the following list of signs and symptoms for Midphalangeal hair. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the hair - Autosomal dominant 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) Smith-Magenis syndrome ?
|
Smith-Magenis syndrome is a developmental disorder that affects many parts of the body. The major features of this condition include mild to moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems. Most people with Smith-Magenis syndrome have a broad, square-shaped face with deep-set eyes, full cheeks, and a prominent lower jaw. The middle of the face and the bridge of the nose often appear flattened. The mouth tends to turn downward with a full, outward-curving upper lip. These facial differences can be subtle in early childhood, but they usually become more distinctive in later childhood and adulthood. Dental abnormalities are also common in affected individuals. Disrupted sleep patterns are characteristic of Smith-Magenis syndrome, typically beginning early in life. Affected people may be very sleepy during the day, but they have trouble falling asleep and awaken several times each night. People with Smith-Magenis syndrome have affectionate, engaging personalities, but most also have behavioral problems. These include frequent temper tantrums and outbursts, aggression, anxiety, impulsiveness, and difficulty paying attention. Self-injury, including biting, hitting, head banging, and skin picking, is very common. Repetitive self-hugging is a behavioral trait that may be unique to Smith-Magenis syndrome. People with this condition also compulsively lick their fingers and flip pages of books and magazines (a behavior known as "lick and flip"). Other signs and symptoms of Smith-Magenis syndrome include short stature, abnormal curvature of the spine (scoliosis), reduced sensitivity to pain and temperature, and a hoarse voice. Some people with this disorder have ear abnormalities that lead to hearing loss. Affected individuals may have eye abnormalities that cause nearsightedness (myopia) and other vision problems. Although less common, heart and kidney defects also have been reported in people with Smith-Magenis syndrome.
|
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What are the symptoms of Polycythemia Vera ?
|
Symptoms of polycythemia vera include headaches and a feeling of fullness below the ribs on the left side. Polycythemia vera often does not cause early signs or symptoms. It may be found during a routine blood test. Signs and symptoms may occur as the number of blood cells increases. Other conditions may cause the same signs and symptoms. Check with your doctor if you have any of the following: - A feeling of pressure or fullness below the ribs on the left side. - Headaches. - Double vision or seeing dark or blind spots that come and go. - Itching all over the body, especially after being in warm or hot water. - Reddened face that looks like a blush or sunburn. - Weakness. - Dizziness. - Weight loss for no known reason.
|
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How to diagnose Lung Cancer ?
|
Doctors can perform several tests to stage lung cancer. Staging means finding out how far the cancer has progressed. The following tests are used to stage lung cancer: - Computerized tomography or CAT scan is a computer linked to an x-ray machine that creates a series of detailed pictures of areas inside the body. Computerized tomography or CAT scan is a computer linked to an x-ray machine that creates a series of detailed pictures of areas inside the body. - Magnetic resonance imaging, or MRI, is a powerful magnet linked to a computer that makes detailed pictures of areas inside the body. - Radionuclide scanning uses a mildly radioactive substance to show whether cancer has spread to other organs, such as the liver. Magnetic resonance imaging, or MRI, is a powerful magnet linked to a computer that makes detailed pictures of areas inside the body. Radionuclide scanning uses a mildly radioactive substance to show whether cancer has spread to other organs, such as the liver. - A bone scan uses a small amount of a radioactive substance to show whether cancer has spread to the bones. - A mediastinoscopy or mediastinotomy can help show whether the cancer has spread to the lymph nodes in the chest by removing a tissue sample. The patient receives a general anesthetic for this procedure. A bone scan uses a small amount of a radioactive substance to show whether cancer has spread to the bones. A mediastinoscopy or mediastinotomy can help show whether the cancer has spread to the lymph nodes in the chest by removing a tissue sample. The patient receives a general anesthetic for this procedure.
|
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What are the symptoms of Hemifacial hyperplasia strabismus ?
|
What are the signs and symptoms of Hemifacial hyperplasia strabismus? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemifacial hyperplasia strabismus. 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) Facial asymmetry 90% Cleft palate 50% Dental malocclusion 50% Strabismus 50% Telecanthus 50% Upslanted palpebral fissure 50% Visual impairment 50% Amblyopia - Autosomal dominant inheritance - Hemifacial hypertrophy - Submucous cleft hard palate - 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) Osteoporosis ?
|
If you have osteoporosis, ask your doctor which activities are safe for you. If you have low bone mass, experts recommend that you protect your spine by avoiding exercises or activities that flex, bend, or twist it. Furthermore, you should avoid high-impact exercise to lower the risk of breaking a bone. You also might want to consult with an exercise specialist to learn the proper progression of activity, how to stretch and strengthen muscles safely, and how to correct poor posture habits. An exercise specialist should have a degree in exercise physiology, physical education, physical therapy, or a similar specialty. Be sure to ask if he or she is familiar with the special needs of people with osteoporosis. If you have health problemssuch as heart trouble, high blood pressure, diabetes, or obesityor if you aren't used to energetic activity, check with your doctor before you begin a regular exercise program.
|
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What are the symptoms of Jones syndrome ?
|
What are the signs and symptoms of Jones syndrome? Jones syndrome is primarily characterized by gingival fibromatosis (slowly progressive enlargement of the gums) and progressive, sensorineural hearing loss. Enlargement of the gingival tissue usually begins at the time the permanent teeth are erupting, although it may occur before. Excessive growth of the gums may cause displacement of teeth, over-retention of primary teeth, increased spacing, speech problems, and painful chewing. Absence of teeth (oligodontia) and extra (supernumerary) teeth have also been reported in people with Jones syndrome. Hearing loss has been reported to begin in the second or third decade of life and is bilateral (in both ears). Overlapping of symptoms with other syndromes associated with hereditary gingival fibromatosis (HGF) has been reported, including Zimmermann-Laband syndrome and gingival fibromatosis-hypertrichosis syndrome (HGF with excessive hair growth). It has been proposed that the overlapping features reported may represent a spectrum of a single disorder, rather than separate syndromes. The Human Phenotype Ontology provides the following list of signs and symptoms for Jones 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 eruption of teeth 90% Gingival overgrowth 90% Sensorineural hearing impairment 90% Autosomal dominant inheritance - Gingival fibromatosis - Progressive sensorineural hearing impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
|
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] |
How many people are affected by Parkinson disease ?
|
Parkinson disease affects more than 1 million people in North America and more than 4 million people worldwide. In the United States, Parkinson disease occurs in approximately 13 per 100,000 people, and about 60,000 new cases are identified each year. The late-onset form is the most common type of Parkinson disease, and the risk of developing this condition increases with age. Because more people are living longer, the number of people with this disease is expected to increase in coming decades.
|
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] |
What are the treatments for Hereditary Neuropathies ?
|
There are no standard treatments for hereditary neuropathies. Treatment is mainly symptomatic and supportive. Medical treatment includes physical therapy and if needed, pain medication. Orthopedic surgery may be needed to correct severe foot or other skeletal deformities. Bracing may also be used to improve mobility.
|
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] |
What are the genetic changes related to X-linked chondrodysplasia punctata 2 ?
|
X-linked chondrodysplasia punctata 2 is caused by mutations in the EBP gene. This gene provides instructions for making an enzyme called 3-hydroxysteroid-8,7-isomerase, which is responsible for one of the final steps in the production of cholesterol. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals (particularly egg yolks, meat, poultry, fish, and dairy products). Although too much cholesterol is a risk factor for heart disease, this molecule is necessary for normal embryonic development and has important functions both before and after birth. It is a structural component of cell membranes and plays a role in the production of certain hormones and digestive acids. Mutations in the EBP gene reduce the activity of 3-hydroxysteroid-8,7-isomerase, preventing cells from producing enough cholesterol. A shortage of this enzyme also allows potentially toxic byproducts of cholesterol production to build up in the body. The combination of low cholesterol levels and an accumulation of other substances likely disrupts the growth and development of many body systems. It is not known, however, how this disturbance in cholesterol production leads to the specific features of X-linked chondrodysplasia punctata 2.
|
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What is (are) otopalatodigital syndrome type 2 ?
|
Otopalatodigital syndrome type 2 is a disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, frontometaphyseal dysplasia, and Melnick-Needles syndrome. In general, these disorders involve hearing loss caused by malformations in the tiny bones in the ears (ossicles), problems in the development of the roof of the mouth (palate), and skeletal abnormalities involving the fingers and/or toes (digits). Otopalatodigital syndrome type 2 also tends to cause problems in other areas of the body, such as the brain and heart. People with otopalatodigital syndrome type 2 have characteristic facial features including wide-set and downward-slanting eyes; prominent brow ridges; a broad, flat nose; and a very small lower jaw and chin (micrognathia). The base of the skull may be thickened. Some people with this disorder have hearing loss. Affected individuals are usually of short stature and may have abnormalities of the fingers and toes, such as unusual curvature of the fingers (camptodactyly) and shortened or absent thumbs and big toes. They may have bowed limbs; underdeveloped, irregular ribs that may cause problems with breathing; and other abnormal or absent bones. Some may be born with an opening in the roof of the mouth (a cleft palate). In addition to skeletal abnormalities, individuals with otopalatodigital syndrome type 2 may have developmental delay, increased fluid in the center of the brain (hydrocephalus), protrusion of the abdominal organs through the navel (omphalocele), heart defects, chest abnormalities, obstruction of the ducts between the kidneys and bladder (ureters), and, in males, opening of the urethra on the underside of the penis (hypospadias). Males with otopalatodigital syndrome type 2 generally have much more severe signs and symptoms than do females. Males with the disorder usually do not live beyond their first year, because their underdeveloped rib cage does not allow sufficient lung expansion for breathing.
|
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762,
35208,
9412,
22133,
1057,
417,
1581,
4209,
6400,
7466,
323,
14578,
15
] |
What to do for Adrenal Insufficiency and Addison's Disease ?
|
Some people with Addisons disease who are aldosterone deficient can benefit from following a diet rich in sodium. A health care provider or a dietitian can give specific recommendations on appropriate sodium sources and daily sodium guidelines if necessary.
Corticosteroid treatment is linked to an increased risk of osteoporosisa condition in which the bones become less dense and more likely to fracture. People who take corticosteroids should protect their bone health by consuming enough dietary calcium and vitamin D. A health care provider or a dietitian can give specific recommendations on appropriate daily calcium intake based upon age and suggest the best types of calcium supplements, if necessary.
|
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what research (or clinical trials) is being done for Learning Disabilities ?
|
The National Institute of Neurological Disorders and Stroke (NINDS) and other Institutes of the National Institutes of Health (NIH) support research learning disabilities through grants to major research institutions across the country. Current research avenues focus on developing techniques to diagnose and treat learning disabilities and increase understanding of their biological basis.
|
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] |
What is (are) Schizencephaly ?
|
Schizencephaly is an extremely rare developmental birth defect characterized by abnormal slits, or clefts, in the cerebral hemispheres of the brain. Babies with clefts in both hemispheres (called bilateral clefts) commonly have developmental delays, delays in speech and language skills, and problems with brain-spinal cord communication. Individuals with clefts in only one hemisphere (called unilateral clefts) are often paralyzed on one side of the body, but may have average to near-average intelligence. Individuals with schizencephaly may also have an abnormally small head, cognitive delay and impairment, partial or complete paralysis, or poor muscle tone. Most will experience seizures. Some individuals may have an excessive accumulation of fluid in the brain called hydrocephalus.
|
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] |
What are the genetic changes related to LAMA2-related muscular dystrophy ?
|
As its name suggests, LAMA2-related muscular dystrophy is caused by mutations in the LAMA2 gene. This gene provides instructions for making a part (subunit) of certain members of a protein family called laminins. Laminin proteins are made of three different subunits called alpha, beta, and gamma. There are several forms of each subunit, and each form is produced from instructions carried by a different gene. The LAMA2 gene provides instructions for the alpha-2 subunit. This subunit is found in the laminin 2 protein, also known as merosin; it is also part of another laminin protein called laminin 4. Laminins are found in an intricate lattice of proteins and other molecules that forms in the spaces between cells (the extracellular matrix). Laminin 2 and laminin 4 play a particularly important role in the muscles used for movement (skeletal muscles). The laminins attach (bind) to other proteins in the extracellular matrix and in the membrane of muscle cells, which helps maintain the stability of muscle fibers. Most LAMA2 gene mutations that cause the severe, early-onset form of LAMA2-related muscular dystrophy result in the absence of functional laminin alpha-2 subunit. Mutations that cause the milder, later-onset form usually result in a reduction (deficiency) of functional laminin alpha-2 subunit. Deficiency or absence of the laminin alpha-2 subunit results in a corresponding lack of laminin 2 and laminin 4, reducing the strength and stability of muscle tissue and leading to the signs and symptoms of LAMA2-related muscular dystrophy.
|
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What is (are) Neurodegeneration with Brain Iron Accumulation ?
|
Neurodegeneration with brain iron accumulation (NBIA) is a rare, inherited, neurological movement disorder characterized by an abnormal accumulation of iron in the brain and progressive degeneration of the nervous system. Symptoms, which vary greatly among patients and usually develop during childhood, may include dystonia (slow writhing, distorting muscle contractions of the limbs, face, or trunk), dysarthria (slurred or slow speech) choreoathetosis (involuntary, purposeless jerky muscle movements), muscle rigidity (uncontrolled tightness of the muscles), spasticity (sudden, involuntary muscle spasms), and/or ataxia (inability to coordinate movements), confusion, disorientation, seizures, stupor, and dementia. Visual changes are also common, most often due to atrophy of the optic nerve (optic atrophy) or degeneration of the retinal layer in the back of the eye (retinal degeneration Cognitive decline occurs in some forms of NBIA; the majority of individuals with NBIA do not have cognitive impairment. Several genes have been found that cause NBIA.
|
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What is (are) Isovaleric acidemia ?
|
Isovaleric acidemia (IVA) is a type of organic acid disorder in which affected individuals have problems breaking down an amino acid called leucine from the food they eat. Signs and symptoms may range from very mild to life-threatening. In severe cases, symptoms begin within a few days of birth and include poor feeding, vomiting, seizures, and lack of energy (lethargy); these may progress to more serious medical problems including seizures, coma, and possibly death. In other cases, signs and symptoms appear during childhood and may come and go over time. A characteristic sign of IVA is a distinctive odor of sweaty feet during acute illness. Other features may include failure to thrive or delayed development. IVA is caused by mutations in the IVD gene and is inherited in an autosomal recessive manner. Treatment involves moderate restriction of proteins in the diet and oral administration of glycine and L-carnitine which helps to rid the body of excess isovaleric acid.
|
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What are the treatments for leukoencephalopathy with vanishing white matter ?
|
These resources address the diagnosis or management of leukoencephalopathy with vanishing white matter: - Gene Review: Gene Review: Childhood Ataxia with Central Nervous System Hypomelination/Vanishing White Matter - Genetic Testing Registry: Leukoencephalopathy with vanishing white matter 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) Kidney Stones ?
|
A kidney stone is a solid piece of material that forms in the kidney from substances in the urine. It may be as small as a grain of sand or as large as a pearl. Most kidney stones pass out of the body without help from a doctor. But sometimes a stone will not go away. It may get stuck in the urinary tract, block the flow of urine and cause great pain. The following may be signs of kidney stones that need a doctor's help: - Extreme pain in your back or side that will not go away - Blood in your urine - Fever and chills - Vomiting - Urine that smells bad or looks cloudy - A burning feeling when you urinate Your doctor will diagnose a kidney stone with urine, blood, and imaging tests. If you have a stone that won't pass on its own, you may need treatment. It can be done with shock waves; with a scope inserted through the tube that carries urine out of the body, called the urethra; or with surgery. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
|
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What are the symptoms of Amish lethal microcephaly ?
|
What are the signs and symptoms of Amish lethal microcephaly? The Human Phenotype Ontology provides the following list of signs and symptoms for Amish lethal microcephaly. 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% Behavioral abnormality 90% Cognitive impairment 90% Microcephaly 90% Optic atrophy 90% Sloping forehead 90% Abnormality of neuronal migration 50% Aplasia/Hypoplasia of the corpus callosum 50% Hypertonia 50% Muscular hypotonia 50% Reduced bone mineral density 50% Spina bifida 50% Ventriculomegaly 50% Abnormality of the soft palate 7.5% Decreased skull ossification 7.5% Hepatomegaly 7.5% Limitation of joint mobility 7.5% Prenatal movement abnormality 7.5% Seizures 7.5% Autosomal recessive inheritance - Cerebellar hypoplasia - Congenital onset - Flexion contracture - Irritability - Lactic acidosis - Limb hypertonia - Muscular hypotonia of the trunk - Partial agenesis of the corpus callosum - Progressive microcephaly - 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 glutathione synthetase deficiency ?
|
Mutations in the GSS gene cause glutathione synthetase deficiency. The GSS gene provides instructions for making an enzyme called glutathione synthetase. This enzyme is involved in a process called the gamma-glutamyl cycle, which takes place in most of the body's cells. This cycle is necessary for producing a molecule called glutathione. Glutathione protects cells from damage caused by unstable oxygen-containing molecules, which are byproducts of energy production. Glutathione is called an antioxidant because of its role in protecting cells from the damaging effects of these unstable molecules. Mutations in the GSS gene prevent cells from making adequate levels of glutathione, leading to the signs and symptoms of glutathione synthetase deficiency.
|
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What is (are) Back Pain ?
|
If you've ever groaned, "Oh, my aching back!", you are not alone. Back pain is one of the most common medical problems, affecting 8 out of 10 people at some point during their lives. Back pain can range from a dull, constant ache to a sudden, sharp pain. Acute back pain comes on suddenly and usually lasts from a few days to a few weeks. Back pain is called chronic if it lasts for more than three months. Most back pain goes away on its own, though it may take awhile. Taking over-the-counter pain relievers and resting can help. However, staying in bed for more than 1 or 2 days can make it worse. If your back pain is severe or doesn't improve after three days, you should call your health care provider. You should also get medical attention if you have back pain following an injury. Treatment for back pain depends on what kind of pain you have, and what is causing it. It may include hot or cold packs, exercise, medicines, injections, complementary treatments, and sometimes surgery. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
|
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What are the symptoms of Trichorhinophalangeal syndrome type 3 ?
|
What are the signs and symptoms of Trichorhinophalangeal syndrome type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Trichorhinophalangeal syndrome type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal hair quantity 90% Abnormal nasal morphology 90% Aplasia/Hypoplasia of the eyebrow 90% Brachydactyly syndrome 90% Clinodactyly of the 5th finger 90% Cone-shaped epiphysis 90% Frontal bossing 90% Long philtrum 90% Macrotia 90% Short distal phalanx of finger 90% Short stature 90% Thin vermilion border 90% Triangular face 90% Abnormality of the hip bone 50% Abnormality of the nail 50% Abnormality of the palate 50% Camptodactyly of finger 50% Hyperlordosis 50% Increased number of teeth 50% Muscular hypotonia 50% Pectus carinatum 50% Scoliosis 50% Abnormality of the nervous system - Accelerated bone age after puberty - Autosomal dominant inheritance - Avascular necrosis of the capital femoral epiphysis - Cone-shaped epiphyses of the middle phalanges of the hand - Coxa magna - Delayed skeletal maturation - Dental crowding - Osteopenia - Pear-shaped nose - Protruding ear - Short finger - Short foot - Short metacarpal - Short metatarsal - Short palm - Short phalanx of finger - Smooth philtrum - Sparse hair - Sparse lateral eyebrow - 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 (are) hereditary leiomyomatosis and renal cell cancer ?
|
Hereditary leiomyomatosis and renal cell cancer (HLRCC) is a disorder in which affected individuals tend to develop benign tumors containing smooth muscle tissue (leiomyomas) in the skin and, in females, the uterus. This condition also increases the risk of kidney cancer. In this disorder, growths on the skin (cutaneous leiomyomas) typically develop in the third decade of life. Most of these growths arise from the tiny muscles around the hair follicles that cause "goosebumps". They appear as bumps or nodules on the trunk, arms, legs, and occasionally on the face. Cutaneous leiomyomas may be the same color as the surrounding skin, or they may be darker. Some affected individuals have no cutaneous leiomyomas or only a few, but the growths tend to increase in size and number over time. Cutaneous leiomyomas are often more sensitive than the surrounding skin to cold or light touch, and may be painful. Most women with HLRCC also develop uterine leiomyomas (fibroids). While uterine fibroids are very common in the general population, women with HLRCC tend to have numerous large fibroids that appear earlier than in the general population. Approximately 10 percent to 16 percent of people with HLRCC develop a type of kidney cancer called renal cell cancer. The signs and symptoms of renal cell cancer may include lower back pain, blood in the urine, or a mass in the kidney that can be felt upon physical examination. Some people with renal cell cancer have no symptoms until the disease is advanced. The average age at which people with HLRCC are diagnosed with kidney cancer is in their forties. This disorder, especially if it appears in individuals or families without renal cell cancer, is also sometimes called multiple cutaneous leiomyomatosis (MCL) or multiple cutaneous and uterine leiomyomatosis (MCUL).
|
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] |
What are the symptoms of Non 24 hour sleep wake disorder ?
|
What are the signs and symptoms of Non 24 hour sleep wake disorder? The Human Phenotype Ontology provides the following list of signs and symptoms for Non 24 hour sleep wake disorder. 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) Insomnia 90% Visual impairment 90% Anorexia 50% Incoordination 50% Memory impairment 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 is (are) Marfan Syndrome ?
|
Marfan syndrome is a condition in which your body's connective tissue is abnormal. Connective tissue helps support all parts of your body. It also helps control how your body grows and develops.
Marfan syndrome most often affects the connective tissue of the heart and blood vessels, eyes, bones, lungs, and covering of the spinal cord. Because the condition affects many parts of the body, it can cause many complications. Sometimes the complications are life threatening.
Overview
Marfan syndrome is a genetic disorder. A mutation, or change, in the gene that controls how the body makes fibrillin causes Marfan syndrome. Fibrillin is a protein that plays a major role in your body's connective tissue.
Most people who have Marfan syndrome inherit it from their parents. If you have Marfan syndrome, you have a 50 percent chance of passing the altered gene to each of your children.
In about 1 in 4 cases, the mutation that causes Marfan syndrome is not inherited. Thus, the affected person is the first in his or her family to have the condition.
Marfan syndrome often affects the long bones of the body. This can lead to signs, or traits, such as:
A tall, thin build.
Long arms, legs, fingers, and toes and flexible joints.
A spine that curves to one side. This condition is called scoliosis (sko-le-O-sis).
A chest that sinks in or sticks out. These conditions are called pectus excavatum (eks-ka-VA-tum) and pectus carinatum (ka-ri-NA-tum), respectively.
Teeth that are too crowded.
Flat feet.
Marfan syndrome traits vary from person to person, even in the same family. Some people who have the condition have many traits, while others have few.
The most serious complications of Marfan syndrome involve the heart and blood vessels. Marfan syndrome can affect the aorta, the main blood vessel that supplies oxygen-rich blood to the body. In Marfan syndrome, the aorta can stretch and grow weak. This condition is called aortic dilation (di-LA-shun) or aortic aneurysm (AN-u-rism).
If the aorta stretches and grows weak, it may tear or burst and leak blood. This condition is called aortic dissection. It's very serious and can lead to severe heart problems or even death.
Marfan syndrome has no cure, but treatments can help delay or prevent complications. Treatments include medicines, surgery, and other therapies. Limiting certain activities, or changing how you do them, may help reduce the risks to the aorta, eyes, and joints.
The type of treatment you receive depends on how the condition is affecting your body.
Outlook
About 1 out of every 5,000 people in the United States has Marfan syndrome. Men, women, children, and people of all races can have the condition.
Advances have been made in the early diagnosis and treatment of Marfan syndrome. It's now possible for people who have the condition to live longer and enjoy a good quality of life. Many people who have Marfan syndrome and are properly diagnosed and treated may live an average lifespan.
Researchers continue to study the condition and look for better treatments.
|
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What are the genetic changes related to Leber congenital amaurosis ?
|
Leber congenital amaurosis can result from mutations in at least 14 genes, all of which are necessary for normal vision. These genes play a variety of roles in the development and function of the retina. For example, some of the genes associated with this disorder are necessary for the normal development of light-detecting cells called photoreceptors. Other genes are involved in phototransduction, the process by which light entering the eye is converted into electrical signals that are transmitted to the brain. Still other genes play a role in the function of cilia, which are microscopic finger-like projections that stick out from the surface of many types of cells. Cilia are necessary for the perception of several types of sensory input, including vision. Mutations in any of the genes associated with Leber congenital amaurosis disrupt the development and function of the retina, resulting in early vision loss. Mutations in the CEP290, CRB1, GUCY2D, and RPE65 genes are the most common causes of the disorder, while mutations in the other genes generally account for a smaller percentage of cases. In about 30 percent of all people with Leber congenital amaurosis, the cause of the disorder is unknown.
|
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What are the treatments for Myhre syndrome ?
|
How might Myhre syndrome be treated? Treatment of this condition is symptomatic and supportive. Children with Myhre syndrome may require management by a team of specialists, including pediatricians, speech pathologists, orthopedists (bone specialists), cardiologists (heart specialists), audiologists (hearing specialists), and physical therapists. Early intervention is important to help ensure that children with Myhre syndrome reach their full potential.
|
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] |
What are the genetic changes related to triple X syndrome ?
|
People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Females typically have two X chromosomes (46,XX), and males have one X chromosome and one Y chromosome (46,XY). Triple X syndrome results from an extra copy of the X chromosome in each of a female's cells. As a result of the extra X chromosome, each cell has a total of 47 chromosomes (47,XXX) instead of the usual 46. An extra copy of the X chromosome is associated with tall stature, learning problems, and other features in some girls and women. Some females with triple X syndrome have an extra X chromosome in only some of their cells. This phenomenon is called 46,XX/47,XXX mosaicism.
|
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] |
How many people are affected by infantile-onset ascending hereditary spastic paralysis ?
|
Infantile-onset ascending hereditary spastic paralysis is a rare disorder, with at least 30 cases reported in the scientific literature.
|
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] |
Is Marfan syndrome 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. At least 25 percent of Marfan syndrome cases result from a new mutation in the FBN1 gene. These cases occur in people with no history of the disorder in their family.
|
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What causes Charcot-Marie-Tooth disease type 2F ?
|
What causes Charcot-Marie-Tooth disease type 2F? Charcot-Marie-Tooth disease type 2F (CMT2F) is caused by mutations in the HSPB1 gene. This gene provides instructions for making a protein (heat shock protein beta-1) which helps protect cells under adverse conditions. Heat shock proteins appear to be involved in activities such as cell movement, stabilizing the cell's framework, folding and stabilizing new proteins, repairing damaged proteins, and muscle contraction. Heat shock protein beta-1 is particularly abundant in nerve and muscle cells. In nerve cells, it helps to organize a network of threads that maintain the diameter of axons (neurofilaments), which are needed to transmit nerve impulses efficiently. It is unclear exactly how HSPB1 mutations lead to the axon abnormalities characteristic of CMT2F. Researchers suggest that mutations lead to an altered protein which clusters together and interferes with nerve cell function. Another possibility is that the altered protein disrupts the assembly of neurofilaments, which in turn may impair the transmission of nerve impulses.
|
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] |
What are the symptoms of Short stature syndrome, Brussels type ?
|
What are the signs and symptoms of Short stature syndrome, Brussels type? The Human Phenotype Ontology provides the following list of signs and symptoms for Short stature syndrome, Brussels 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) Abnormality of metabolism/homeostasis - Delayed epiphyseal ossification - Horseshoe kidney - Microretrognathia - Narrow chest - Relative macrocephaly - Short stature - Triangular face - 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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] |
Is beta-ketothiolase deficiency 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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[
2513,
9840,
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] |
How many people are affected by familial male-limited precocious puberty ?
|
Familial male-limited precocious puberty is a rare disorder; its prevalence is unknown.
|
[
2347,
1142,
952,
403,
5876,
407,
36490,
5086,
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28,
697,
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310,
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] |
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1,
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] |
What is (are) Scleroderma ?
|
Scleroderma is an autoimmune disorder that involves changes in the skin, blood vessels, muscles, and internal organs. There are two main types: localized scleroderma, which affects only the skin; and systemic scleroderma, which affects the blood vessels and internal organs, as well as the skin. These two main types also have different sub-types. Localized scleroderma can be divided in: Linear scleroderma (en coup de sabre) Morphea (localized, generalized, guttata and deep). Systemic scleroderma is subdivided in: Diffuse cutaneous systemic sclerosis Limited cutaneous systemic sclerosis (which includes CREST syndrome) Limited Systemic Sclerosis (or systemic sclerosis sine scleroderm). There are also cases of environmentally-induced scleroderma and cases where scleroderma is part of other rheumatic disorders, like rheumatoid arthritis, lupus or Sjogren syndrome. The underlying cause of scleroderma is currently unknown; however, some scientists suspect that it may be related to a buildup of collagen in the skin and other organs due to an abnormal immune system response. There is no cure, but various treatments can relieve symptoms.
|
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476,
29522,
5917,
15
] |
Is Townes-Brocks Syndrome 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.
|
[
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] |
What are the symptoms of Pseudoainhum ?
|
What are the signs and symptoms of Pseudoainhum? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudoainhum. 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) Amniotic constriction ring - Autosomal dominant 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) dyserythropoietic anemia and thrombocytopenia ?
|
Dyserythropoietic anemia and thrombocytopenia is a condition that affects blood cells and primarily occurs in males. A main feature of this condition is a type of anemia called dyserythropoietic anemia, which is characterized by a shortage of red blood cells. The term "dyserythropoietic" refers to the abnormal red blood cell formation that occurs in this condition. In affected individuals, immature red blood cells are unusually shaped and cannot develop into functional mature cells, leading to a shortage of healthy red blood cells. People with dyserythropoietic anemia and thrombocytopenia can have another blood disorder characterized by a reduced level of circulating platelets (thrombocytopenia). Platelets are cell fragments that normally assist with blood clotting. Thrombocytopenia can cause easy bruising and abnormal bleeding. While people with dyserythropoietic anemia and thrombocytopenia can have signs and symptoms of both blood disorders, some are primarily affected by anemia, while others are more affected by thrombocytopenia. The most severe cases of dyserythropoietic anemia and thrombocytopenia are characterized by hydrops fetalis, a condition in which excess fluid builds up in the body before birth. For many others, the signs and symptoms of dyserythropoietic anemia and thrombocytopenia begin in infancy. People with this condition experience prolonged bleeding or bruising after minor trauma or even in the absence of injury (spontaneous bleeding). Anemia can cause pale skin, weakness, and fatigue. Severe anemia may create a need for frequent blood transfusions to replenish the supply of red blood cells; however, repeated blood transfusions over many years can cause health problems such as excess iron in the blood. People with dyserythropoietic anemia and thrombocytopenia may also have a shortage of white blood cells (neutropenia), which can make them prone to recurrent infections. Additionally, they may have an enlarged spleen (splenomegaly). The severity of these abnormalities varies among affected individuals. Some people with dyserythropoietic anemia and thrombocytopenia have additional blood disorders such as beta thalassemia or congenital erythropoietic porphyria. Beta thalassemia is a condition that reduces the production of hemoglobin, which is the iron-containing protein in red blood cells that carries oxygen. A decrease in hemoglobin can lead to a shortage of oxygen in cells and tissues throughout the body. Congenital erythropoietic porphyria is another disorder that impairs hemoglobin production. People with congenital erythropoietic porphyria are also very sensitive to sunlight, and areas of skin exposed to the sun can become fragile and blistered.
|
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] |
What are the treatments for Anonychia congenita ?
|
How might anonychia congenita be treated? There is limited information regarding anonychia congenita because it is very rare. After a careful review of the medical literature, we did not find any information about treatment for this condition.
|
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What is (are) Heart Failure ?
|
In heart failure, the heart cannot pump enough blood to meet the body's needs. In some cases, the heart cannot fill with enough blood. In other cases, the heart can't pump blood to the rest of the body with enough force. Some people have both problems. Heart failure develops over time as the pumping action of the heart gets weaker. It can affect either the right, the left, or both sides of the heart. Heart failure does not mean that the heart has stopped working or is about to stop working. When heart failure affects the left side of the heart, the heart cannot pump enough oxygen-rich blood to the rest of the body. When heart failure affects the right side, the heart cannot pump enough blood to the lungs, where it picks up oxygen. The Heart's Pumping Action In normal hearts, blood vessels called veins bring oxygen-poor blood from the body to the right side of the heart. It is then pumped through the pulmonary artery to the lungs, picking up oxygen. From there, the blood returns to the left side of the heart. Then it is pumped through a large artery called the aorta that distributes blood throughout the body. When the heart is weakened by heart failure, blood and fluid can back up into the lungs, and fluid builds up in the feet, ankles, and legs. People with heart failure often experience tiredness and shortness of breath. Heart Failure is Serious Heart failure is a serious and common condition. Scientists estimate that 5 million people in the U.S. have heart failure and that number is growing. It contributes to 300,000 deaths each year. Heart failure is most common in those age 65 and older and it is the number one reason older people are hospitalized. Other Names for Heart Failure Heart failure can also be called congestive heart failure, systolic heart failure, diastolic heart failure, left-sided heart failure, or right-sided heart failure.
|
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What are the genetic changes related to CHOPS syndrome ?
|
CHOPS syndrome is caused by mutations in the AFF4 gene. This gene provides instructions for making part of a protein complex called the super elongation complex (SEC). During embryonic development, the SEC is involved in an activity called transcription, which is the first step in the production of proteins from genes. By re-starting the transcription of certain genes after pauses that normally occur during the process, the SEC helps ensure that development proceeds appropriately before birth. Mutations in the AFF4 gene are thought to result in an AFF4 protein that is not broken down when it is no longer needed, so more AFF4 protein is available than usual. The excess AFF4 protein interferes with normal pauses in transcription. This dysregulation of transcription leads to problems in the development of multiple organs and tissues, resulting in the signs and symptoms of CHOPS syndrome.
|
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What are the symptoms of Binswanger's disease ?
|
What are the signs and symptoms of Binswanger's disease? The signs and symptoms associated with Binswanger's disease generally disrupt tasks related to "executive cognitive functioning," including short-term memory, organization, mood, the regulation of attention, the ability to make decisions, and appropriate behavior. Binswanger's disease is primarily characterized by 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 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.
|
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What are the treatments for Hemochromatosis ?
|
Health care providers treat hemochromatosis by drawing blood. This process is called phlebotomy. Phlebotomy rids the body of extra iron. This treatment is simple, inexpensive, and safe.
Based on the severity of the iron overload, a patient will have phlebotomy to remove a pint of blood once or twice a week for several months to a year, and occasionally longer. Health care providers will test serum ferritin levels periodically to monitor iron levels. The goal is to bring serum ferritin levels to the low end of the average range and keep them there. Depending on the lab, the level is 25 to 50 g/L.
After phlebotomy reduces serum ferritin levels to the desired level, patients may need maintenance phlebotomy treatment every few months. Some patients may need phlebotomies more often. Serum ferritin tests every 6 months or once a year will help determine how often a patient should have blood drawn. Many blood donation centers provide free phlebotomy treatment for people with hemochromatosis.
Treating hemochromatosis before organs are damaged can prevent complications such as cirrhosis, heart problems, arthritis, and diabetes. Treatment cannot cure these conditions in patients who already have them at diagnosis. However, treatment will help most of these conditions improve. The treatments effectiveness depends on the degree of organ damage. For example, treating hemochromatosis can stop the progression of liver damage in its early stages and lead to a normal life expectancy. However, if a patient develops cirrhosis, his or her chance of developing liver cancer increases, even with phlebotomy treatment. Arthritis usually does not improve even after phlebotomy removes extra iron.
|
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] |
Do you have information about Fire Safety
|
Summary : Preventing fires is an important part of fire safety. In the United States, cooking is the main cause of home fires. Cigarettes are a big risk too - they are the leading cause of fire deaths. Here are some fire prevention tips: - Don't leave the stove or oven unattended when they are on - Don't let children use kitchen appliances unsupervised - Don't smoke in bed - Make sure your electrical appliances and cords are in good condition It is also important to be prepared in case there is a fire. Make sure that you have working smoke detectors on every floor and in every bedroom. You should also have fire extinguishers on every floor and in your kitchen. Make and practice an escape plan in case the main exit is blocked.
|
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What are the symptoms of Split hand foot malformation ?
|
What are the signs and symptoms of Split hand foot malformation? The Human Phenotype Ontology provides the following list of signs and symptoms for Split hand foot malformation. 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 chromosome segregation 90% Abnormality of the ankles 90% Abnormality of the metacarpal bones 90% Low-set, posteriorly rotated ears 90% Abnormality of the wrist 50% Aplasia/Hypoplasia of the radius 50% Aplasia/Hypoplasia of the thumb 50% Cognitive impairment 50% Conductive hearing impairment 50% Cryptorchidism 50% Myopia 50% Narrow mouth 50% Proteinuria 50% Renal hypoplasia/aplasia 50% Renal insufficiency 50% Abnormality of the pinna 35% Hearing impairment 35% Cleft palate 33% Intellectual disability 33% Oligodactyly (feet) 33% Oligodactyly (hands) 33% Syndactyly 33% Abnormality of cardiovascular system morphology 13% Abnormality of the ulna 7.5% Absent hand 7.5% Aplasia/Hypoplasia of the iris 7.5% Aplasia/Hypoplasia of the tongue 7.5% Macrocephaly 7.5% Microdontia 7.5% Nystagmus 7.5% Prominent nasal bridge 7.5% Sensorineural hearing impairment 7.5% Short stature 7.5% Tarsal synostosis 7.5% Hypoplasia of the maxilla 5% Aplasia/Hypoplasia involving the metacarpal bones - Aplasia/Hypoplasia of metatarsal bones - Aplasia/Hypoplasia of the phalanges of the hand - Aplasia/Hypoplasia of the phalanges of the toes - Autosomal dominant inheritance - Autosomal recessive inheritance - Broad hallux - Camptodactyly - Clinodactyly - Ectrodactyly - Finger syndactyly - High palate - Incomplete penetrance - Microretrognathia - Nail dystrophy - Renal hypoplasia - Ridged nail - Short metacarpal - Short phalanx of finger - Split foot - Split hand - Toe syndactyly - Triphalangeal thumb - X-linked 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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] |
How many people are affected by Nijmegen breakage syndrome ?
|
The exact prevalence of Nijmegen breakage syndrome is unknown. This condition is estimated to affect one in 100,000 newborns worldwide, but is thought to be most common in the Slavic populations of Eastern Europe.
|
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] |
What are the treatments for renal tubular acidosis with deafness ?
|
These resources address the diagnosis or management of renal tubular acidosis with deafness: - Genetic Testing Registry: Renal tubular acidosis with progressive nerve deafness - MedlinePlus Encyclopedia: Audiometry - MedlinePlus Encyclopedia: Kidney Function Tests These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
|
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] |
Is congenital plasminogen deficiency 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 is (are) Hemophilia ?
|
Hemophilia is a rare disorder in which the blood does not clot normally. It is usually inherited. Hemophilia usually occurs in males. If you have hemophilia, you have little or no clotting factor. Clotting factor is a protein needed for normal blood clotting. Without it, you may bleed for a long time after an injury or accident. You also may bleed into your knees, ankles, and elbows. Bleeding in the joints causes pain and, if not treated, can lead to arthritis. Bleeding in the brain, a very serious complication of hemophilia, requires emergency treatment. The main symptoms of hemophilia are excessive bleeding and easy bruising. Blood tests can tell if you have it. The main treatment is injecting the missing clotting factor into the bloodstream. You may need it on a regular basis, or just when bleeding occurs. NIH: National Heart, Lung, and Blood Institute
|
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What are the symptoms of Heart Block ?
|
Signs and symptoms depend on the type of heart block you have. First-degree heart block may not cause any symptoms.
Signs and symptoms of second- and third-degree heart block include:
Fainting
Dizziness or light-headedness
Fatigue (tiredness)
Shortness of breath
Chest pain
These symptoms may suggest other health problems as well. If these symptoms are new or severe, call 911 or have someone drive you to the hospital emergency room. If you have milder symptoms, talk with your doctor right away to find out whether you need prompt treatment.
|
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What are the symptoms of Imperforate oropharynx-costo vetebral anomalies ?
|
What are the signs and symptoms of Imperforate oropharynx-costo vetebral anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Imperforate oropharynx-costo vetebral anomalies. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pharynx 90% Abnormality of the ribs 90% Low-set, posteriorly rotated ears 90% Recurrent respiratory infections 90% Respiratory insufficiency 90% Vertebral segmentation defect 90% Abnormality of the antitragus 50% Aplasia/Hypoplasia of the tongue 50% Arachnodactyly 50% Choanal atresia 50% Clinodactyly of the 5th finger 50% Epicanthus 50% Joint hypermobility 50% Overfolded helix 50% Polyhydramnios 50% Premature birth 50% Wide nasal bridge 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 is the outlook for Multiple System Atrophy with Orthostatic Hypotension ?
|
Most individuals with multiple system atrophy with orthostatic hypotension die within 7 to 10 years after the onset of symptoms. A problem with the respiratory system is the most common cause of death.
|
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How to diagnose Childhood Acute Lymphoblastic Leukemia ?
|
Tests that examine the blood and bone marrow are used to detect (find) and diagnose childhood ALL. The following tests and procedures may be used to diagnose childhood ALL and find out if leukemia cells have spread to other parts of the body such as the brain or testicles: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patient's health habits and past illnesses and treatments will also be taken. - Complete blood count (CBC) with differential : A procedure in which a sample of blood is drawn and checked for the following: - The number of red blood cells and platelets. - The number and type of white blood cells. - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells. - The portion of the sample made up of red blood cells. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - Bone marrow aspiration and biopsy : The removal of bone marrow and a small piece of bone by inserting a hollow needle into the hipbone or breastbone. A pathologist views the bone marrow and bone under a microscope to look for signs of cancer. The following tests are done on blood or the bone marrow tissue that is removed: - Cytogenetic analysis : A laboratory test in which the cells in a sample of blood or bone marrow are viewed under a microscope to look for certain changes in the chromosomes of lymphocytes. For example, in Philadelphia chromosome positive ALL, part of one chromosome switches places with part of another chromosome. This is called the Philadelphia chromosome. - Immunophenotyping : A laboratory test in which the antigens or markers on the surface of a blood or bone marrow cell are checked to see if they are lymphocytes or myeloid cells. If the cells are malignant lymphocytes (cancer) they are checked to see if they are B lymphocytes or T lymphocytes. - Lumbar puncture : A procedure used to collect a sample of cerebrospinal fluid (CSF) from the spinal column. This is done by placing a needle between two bones in the spine and into the CSF around the spinal cord and removing a sample of the fluid. The sample of CSF is checked under a microscope for signs that leukemia cells have spread to the brain and spinal cord. This procedure is also called an LP or spinal tap. This procedure is done after leukemia is diagnosed to find out if leukemia cells have spread to the brain and spinal cord. Intrathecal chemotherapy is given after the sample of fluid is removed to treat any leukemia cells that may have spread to the brain and spinal cord. - 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. The chest x-ray is done to see if leukemia cells have formed a mass in the middle of the chest.
|
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] |
What are the treatments for coloboma ?
|
These resources address the diagnosis or management of coloboma: - Genetic Testing Registry: Congenital ocular coloboma - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 1 - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 2 - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 3 - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 4 - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 5 - Genetic Testing Registry: Microphthalmia, isolated, with coloboma 6 - National Eye Institute: Facts About Uveal Coloboma 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) Diabetes ?
|
Type 1 diabetes, which used to be called called juvenile diabetes or insulin-dependent diabetes, develops most often in young people. However, type 1 diabetes can also develop in adults. With this form of diabetes, your body no longer makes insulin or doesnt make enough insulin because your immune system has attacked and destroyed the insulin-producing cells. About 5 to 10 percent of people with diabetes have type 1 diabetes. To survive, people with type 1 diabetes must have insulin delivered by injection or a pump. Learn more about type 1 diabetes here. Learn more about type 1 diabetes here. Type 2 diabetes, which used to be called adult-onset diabetes or non insulin-dependent diabetes, is the most common form of diabetes. Although people can develop type 2 diabetes at any age -- even during childhood -- type 2 diabetes develops most often in middle-aged and older people. Type 2 diabetes usually begins with insulin resistancea condition that occurs when fat, muscle, and liver cells do not use insulin to carry glucose into the bodys cells to use for energy. As a result, the body needs more insulin to help glucose enter cells. At first, the pancreas keeps up with the added demand by making more insulin. Over time, the pancreas doesnt make enough insulin when blood sugar levels increase, such as after meals. If your pancreas can no longer make enough insulin, you will need to treat your type 2 diabetes. Learn more about type 2 diabetes here.
|
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How to diagnose Biliary Atresia ?
|
No single test can definitively diagnose biliary atresia, so a series of tests is needed. All infants who still have jaundice 2 to 3 weeks after birth, or who have gray or white stools after 2 weeks of birth, should be checked for liver damage.2
Infants with suspected liver damage are usually referred to a
- pediatric gastroenterologist, a doctor who specializes in childrens digestive diseases - pediatric hepatologist, a doctor who specializes in childrens liver diseases - pediatric surgeon, a doctor who specializes in operating on childrens livers and bile ducts
The health care provider may order some or all of the following tests to diagnose biliary atresia and rule out other causes of liver problems. If biliary atresia is still suspected after testing, the next step is diagnostic surgery for confirmation.
Blood test. A blood test involves drawing blood at a health care providers office or commercial facility and sending the sample to a lab for analysis. High levels of bilirubin in the blood can indicate blocked bile ducts.
Abdominal x rays. An x ray is a picture created by using radiation and recorded on film or on a computer. The amount of radiation used is small. An x ray is performed at a hospital or outpatient center by an x-ray technician, and the images are interpreted by a radiologista doctor who specializes in medical imaging. Anesthesia is not needed, but sedation may be used to keep infants still. The infant will lie on a table during the x ray. The x-ray machine is positioned over the abdominal area. Abdominal x rays are used to check for an enlarged liver and spleen.
Ultrasound. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. The procedure is performed in a health care providers office, outpatient center, or hospital by a specially trained technician, and the images are interpreted a radiologist. Anesthesia is not needed, but sedation may be used to keep the infant still. The images can show whether the liver or bile ducts are enlarged and whether tumors or cysts are blocking the flow of bile. An ultrasound cannot be used to diagnose biliary atresia, but it does help rule out other common causes of jaundice.
Liver scans. Liver scans are special x rays that use chemicals to create an image of the liver and bile ducts. Liver scans are performed at a hospital or outpatient facility, usually by a nuclear medicine technician. The infant will usually receive general anesthesia or be sedated before the procedure. Hepatobiliary iminodiacetic acid scanning, a type of liver scan, uses injected radioactive dye to trace the path of bile in the body. The test can show if and where bile flow is blocked. Blockage is likely to be caused by biliary atresia.
Liver biopsy. A biopsy is a procedure that involves taking a piece of liver tissue for examination with a microscope. The biopsy is performed by a health care provider in a hospital with light sedation and local anesthetic. The health care provider uses imaging techniques such as ultrasound or a computerized tomography scan to guide the biopsy needle into the liver. The liver tissue is examined in a lab by a pathologista doctor who specializes in diagnosing diseases. A liver biopsy can show whether biliary atresia is likely. A biopsy can also help rule out other liver problems, such as hepatitisan irritation of the liver that sometimes causes permanent damage.
Diagnostic surgery. During diagnostic surgery, a pediatric surgeon makes an incision, or cut, in the abdomen to directly examine the liver and bile ducts. If the surgeon confirms that biliary atresia is the problem, a Kasai procedure will usually be performed immediately. Diagnostic surgery and the Kasai procedure are performed at a hospital or outpatient facility; the infant will be under general anesthesia during surgery.
|
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] |
What is (are) familial osteochondritis dissecans ?
|
Familial osteochondritis dissecans is a condition that affects the joints and is associated with abnormal cartilage. Cartilage is a tough but flexible tissue that covers the ends of the bones at joints and is also part of the developing skeleton. A characteristic feature of familial osteochondritis dissecans is areas of bone damage (lesions) caused by detachment of cartilage and a piece of the underlying bone from the end of the bone at a joint. People with this condition develop multiple lesions that affect several joints, primarily the knees, elbows, hips, and ankles. The lesions cause stiffness, pain, and swelling in the joint. Often, the affected joint feels like it catches or locks during movement. Other characteristic features of familial osteochondritis dissecans include short stature and development of a joint disorder called osteoarthritis at an early age. Osteoarthritis is characterized by the breakdown of joint cartilage and the underlying bone. It causes pain and stiffness and restricts the movement of joints. A similar condition called sporadic osteochondritis dissecans is associated with a single lesion in one joint, most often the knee. These cases may be caused by injury to or repetitive use of the joint (often sports-related). Some people with sporadic osteochondritis dissecans develop osteoarthritis in the affected joint, especially if the lesion occurs later in life after the bone has stopped growing. Short stature is not associated with this form of the condition.
|
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How to diagnose Glutaric acidemia type I ?
|
Is genetic testing available for glutaric acidemia type I? Yes. The Genetic Testing Registry (GTR) provides information about the labs that offer genetic testing for this condition. The intended audience for the GTR is health care providers and researchers. Therefore, patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
|
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] |
What are the treatments for Chronic inflammatory demyelinating polyneuropathy ?
|
How might chronic inflammatory demyelinating polyneuropathy (CIDP) be treated? The standard therapies for CIDP appear to be equally effective and include: intravenous immune globulin (IVIG) - adds large numbers of antibodies to the blood plasma to reduce the effect of the antibodies that are causing the problem glucocorticoids - help reduce inflammation and relieve symptoms plasma exchange - remove antibodies from the blood The treatment choice is influenced by the preference of the affected person, side effects, treatment cost, duration, ease of administration, and availability. Advantages and disadvantages of standard therapies may include the following: IVIG and plasma exchange may lead to a more rapid improvement in CIDP than glucocorticoid therapy, but are less likely than glucocorticoids to produce a remission IVIG is expensive, and its supply is sometimes limited Glucocorticoids are inexpensive, but chronic use is limited by common and important side effects Plasma exchange is expensive, invasive, and available only at specialized centers Other medications that suppress the immune system (immunosuppressants) may also be used. Physiotherapy may improve muscle strength, function and mobility.
|
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] |
What is (are) Pilocytic astrocytoma ?
|
Pilocytic astrocytoma is an often benign, slow-growing tumor of the brain or spinal cord. The tumor may be in the form of a cyst and usually does not spread to nearby tissues. Symptoms vary depending upon the size and location of the tumor. Most symptoms result from increased pressure on the brain and include headaches, nausea, vomiting, balance problems, and vision abnormalities. The underlying cause of a pilocytic astrocytoma is unknown. It most commonly occurs in children and young adults, and in people with neurofibromatosis type 1 (NF1), Li-Fraumeni syndrome, and tuberous sclerosis. This type of tumor can often be cured with surgery.
|
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What are the genetic changes related to cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ?
|
CARASIL is caused by mutations in the HTRA1 gene. This gene provides instructions for making an enzyme that is found in many of the body's organs and tissues. One of the major functions of the HTRA1 enzyme is to regulate signaling by proteins in the transforming growth factor-beta (TGF-) family. TGF- signaling is essential for many critical cell functions. It also plays an important role in the formation of new blood vessels (angiogenesis). In people with CARASIL, mutations in the HTRA1 gene prevent the effective regulation of TGF- signaling. Researchers suspect that abnormally increased TGF- signaling alters the structure of small blood vessels, particularly in the brain. These blood vessel abnormalities (described as arteriopathy) greatly increase the risk of stroke and lead to the death of nerve cells (neurons) in many areas of the brain. Dysregulation of TGF- signaling may also underlie the hair loss and back pain seen in people with CARASIL, although the relationship between abnormal TGF- signaling and these features is less clear.
|
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How to prevent Thrombocytopenia ?
|
Whether you can prevent thrombocytopenia depends on its specific cause. Usually the condition can't be prevented. However, you can take steps to prevent health problems associated with thrombocytopenia. For example:
Avoid heavy drinking. Alcohol slows the production of platelets.
Try to avoid contact with toxic chemicals. Chemicals such as pesticides, arsenic, and benzene can slow the production of platelets.
Avoid medicines that you know have decreased your platelet count in the past.
Be aware of medicines that may affect your platelets and raise your risk of bleeding. Two examples of such medicines are aspirin and ibuprofen. These medicines may thin your blood too much.
Talk with your doctor about getting vaccinated for viruses that can affect your platelets. You may need vaccines for mumps, measles, rubella, and chickenpox. You may want to have your child vaccinated for these viruses as well. Talk with your child's doctor about these vaccines.
|
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What causes VLCAD deficiency ?
|
What causes VLCAD deficiency? VLCAD deficiency is caused by changes (mutations) in the ACADVL gene. This gene encodes an enzyme that is required for the proper break down (metabolism) of a certain group of fats called very long-chain fatty acids. Mutations in the ACADVL gene lead to reduced levels of this enzyme which prevents the proper metabolism of these fats. Because very long-chain fatty acids are an important source of energy, particularly for the heart and muscles, this may result in certain symptoms such as lethargy and hypoglycemia. Fats that are not properly broken down can also build-up and damage tissues such as the heart, liver, and muscles, which can cause the other features seen in people with VLCAD deficiency.
|
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What are the treatments for familial pityriasis rubra pilaris ?
|
These resources address the diagnosis or management of familial pityriasis rubra pilaris: - Genetic Testing Registry: Pityriasis rubra pilaris 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) Allergy ?
|
An allergy is a reaction by your immune system to something that does not bother most other people. People who have allergies often are sensitive to more than one thing. Substances that often cause reactions are - Pollen - Dust mites - Mold spores - Pet dander - Food - Insect stings - Medicines Normally, your immune system fights germs. It is your body's defense system. In most allergic reactions, however, it is responding to a false alarm. Genes and the environment probably both play a role. Allergies can cause a variety of symptoms such as a runny nose, sneezing, itching, rashes, swelling, or asthma. Allergies can range from minor to severe. Anaphylaxis is a severe reaction that can be life-threatening. Doctors use skin and blood tests to diagnose allergies. Treatments include medicines, allergy shots, and avoiding the substances that cause the reactions. NIH: National Institute of Allergy and Infectious Diseases
|
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What to do for 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. - The main symptoms of viral gastroenteritis are watery diarrhea and vomiting. - Dehydration is the most common complication of viral gastroenteritis. - When someone does not drink enough fluids to replace those that are lost through vomiting and diarrhea, dehydration can result. Signs of dehydration in adults are excessive thirst, infrequent urination, dark-colored urine, dry skin, and lethargy, dizziness, or faintness. - Infants, young children, older adults, and people with weak immune systems have the greatest risk of becoming dehydrated. - Viral gastroenteritis is transmitted from person to person. - Diagnosis of viral gastroenteritis is usually based on symptoms alone. - Most cases of viral gastroenteritis resolve over time without specific treatment. Antibiotics are not effective against viral infections. The primary goal of treatment is to reduce symptoms. - Adults with viral gastroenteritis should drink plenty of liquids such as fruit juices, sports drinks, caffeine-free soft drinks, and broths to replace fluids and electrolytes. - Children with viral gastroenteritis should be given oral rehydration solutions to prevent dehydration. - People can reduce their chances of getting or spreading viral gastroenteritis if they wash their hands thoroughly with soap and warm water for 20 seconds after using the bathroom or changing diapers and before eating or handling food, disinfect contaminated surfaces, and avoid foods or liquids that might be contaminated.
|
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How many people are affected by primary ciliary dyskinesia ?
|
Primary ciliary dyskinesia occurs in approximately 1 in 16,000 individuals.
|
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What is (are) Stress ?
|
Everyone feels stressed from time to time. Not all stress is bad. All animals have a stress response, and it can be life-saving. But chronic stress can cause both physical and mental harm. There are at least three different types of stress: - Routine stress related to the pressures of work, family, and other daily responsibilities - Stress brought about by a sudden negative change, such as losing a job, divorce, or illness - Traumatic stress, which happens when you are in danger of being seriously hurt or killed. Examples include a major accident, war, assault, or a natural disaster. This type of stress can cause post-traumatic stress disorder (PTSD). Different people may feel stress in different ways. Some people experience digestive symptoms. Others may have headaches, sleeplessness, depressed mood, anger, and irritability. People under chronic stress get more frequent and severe viral infections, such as the flu or common cold. Vaccines, such as the flu shot, are less effective for them. Some people cope with stress more effectively than others. It's important to know your limits when it comes to stress, so you can avoid more serious health effects. NIH: National Institute of Mental Health
|
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What is the outlook for Adult Primary Liver Cancer ?
|
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following: - The stage of the cancer (the size of the tumor, whether it affects part or all of the liver, or has spread to other places in the body). - How well the liver is working. - The patients general health, including whether there is cirrhosis of the liver.
|
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What are the symptoms of Blue cone monochromatism ?
|
What are the signs and symptoms of Blue cone monochromatism? The Human Phenotype Ontology provides the following list of signs and symptoms for Blue cone monochromatism. 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) Nystagmus 75% Abnormal electroretinogram 7.5% Abnormality of color vision 7.5% Abnormality of macular pigmentation 7.5% Abnormality of retinal pigmentation 7.5% Corneal dystrophy 7.5% Photophobia 7.5% Visual impairment 7.5% Blue cone monochromacy - Myopia - Reduced visual acuity - 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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How to diagnose Cramp-fasciculation syndrome ?
|
How is cramp-fasciculation syndrome diagnosed? A diagnosis of cramp-fasciculation syndrome is generally based on the presence of characteristic signs and symptoms. Namely, a history of frequent muscle cramps, twitching, and pain (often worsened by exercise) without muscle weakness or wasting is suggestive of the condition. It is also important to rule out other conditions that may cause similar features. Electromyography (EMG) or repetitive nerve stimulation studies may also be done to assess the health of muscles and the nerves that control them. In repetitive nerve stimulation studies, muscle responses are recorded when the nerves are repetitively stimulated by small pulses of electricity.
|
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What is (are) Marfan Syndrome ?
|
Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, and other organs. One of these proteins is fibrillin. A problem with the fibrillin gene causes Marfan syndrome. Marfan syndrome can be mild to severe, and the symptoms can vary. People with Marfan syndrome are often very tall, thin, and loose jointed. Most people with Marfan syndrome have heart and blood vessel problems, such as a weakness in the aorta or heart valves that leak. They may also have problems with their bones, eyes, skin, nervous system, and lungs. There is no single test to diagnose Marfan syndrome. Your doctor may use your medical history, family history, and a physical exam to diagnose it. Marfan syndrome has no cure, but treatments can help delay or prevent complications. Treatments include medicines, surgery, and other therapies. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
|
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Do you have information about Climate Change
|
Summary : Climate is the average weather in a place over a period of time. Climate change is major change in temperature, rainfall, snow, or wind patterns lasting for many years. It can be caused by natural factors or by human activities. Today climate changes are occurring at an increasingly rapid rate. Climate change can affect our health. It can lead to - More heat-related illness and deaths - More pollen, mold, and air pollution. This can cause an increase in allergies, asthma, and breathing problems. - Mosquitoes and other insects that carry diseases spreading to areas that used to be too cold for them. - More floods and rising sea levels. This can cause an increase in contamination of food and water. - More extreme weather events, such as hurricanes and wildfires. These can cause death, injuries, stress, and mental health problems. Researchers are studying the best ways to lessen climate change and reduce its impact on our health. NIH: National Institute of Environmental Health Sciences
|
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What are the treatments for Metachromatic Leukodystrophy ?
|
There is no cure for MLD. Bone marrow transplantation may delay progression of the disease in some infantile-onset cases. Other treatment is symptomatic and supportive. Considerable progress has been made with regard to gene therapy in an animal model of MLD and in clinical trials.
|
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What are the genetic changes related to Stormorken syndrome ?
|
Stormorken syndrome is caused by a mutation in the STIM1 gene. The protein produced from this gene is involved in controlling the entry of positively charged calcium atoms (calcium ions) into cells. The STIM1 protein recognizes when calcium ion levels are low and stimulates the flow of ions into the cell through special channels in the cell membrane called calcium-release activated calcium (CRAC) channels. The flow of calcium ions through CRAC channels triggers signaling within cells that helps control gene activity, cell growth and division, and immune function. The STIM1 gene mutation involved in Stormorken syndrome leads to production of a STIM1 protein that is constantly turned on (constitutively active), which means it continually stimulates calcium ion entry through CRAC channels regardless of ion levels. Researchers suggest that the abnormal ion flow in platelets causes the cells to die earlier than usual, leading to thrombocytopenia and bleeding problems in people with Stormorken syndrome. It is unknown how constitutively active STIM1 leads to the other features of the disorder.
|
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