Archive for the ‘Diseases’ Category

Neurofibromatosis

Thursday, May 29th, 2008

What is Neurofibromatosis?
The neurofibromatoses are genetic disorders of the nervous system that primarily affect the development and growth of neural (nerve) cell tissues. These disorders cause tumors to grow on nerves and produce other abnormalities such as skin changes and bone deformities. Although many affected persons inherit the disorder, between 30 and 50 percent of new cases arise spontaneously through mutation (change) in an individual’s genes. Once this change has taken place, the mutant gene can be passed on to succeeding generations. Scientists have classified the disorders as neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2). NF1 is the more common type of the neurofibromatoses. In diagnosing NF1, a physician looks for changes in skin appearance, tumors, or bone abnormalities, and/or a parent, sibling, or child with NF1. Symptoms of NF1, particularly those on the skin, are often evident at birth or during infancy and almost always by the time a child is about 10 years old. NF2 is less common. NF2 is characterized by bilateral (occurring on both sides of the body) tumors on the eighth cranial nerve. The tumors cause pressure damage to neighboring nerves. To determine whether an individual has NF2, a physician looks for bilateral eighth nerve tumors and similar signs and symptoms in a parent, sibling, or child. Affected individuals may notice hearing loss as early as the teen years. Other early symptoms may include tinnitus (ringing noise in the ear) and poor balance. Headache, facial pain, or facial numbness, caused by pressure from the tumors, may also occur.

Is there any treatment?

Treatments for both NF1 and NF2 are presently aimed at controlling symptoms. Surgery can help some NF1 bone malformations and remove painful or disfiguring tumors; however, there is a chance that the tumors may grow back and in greater numbers. In the rare instances when tumors become malignant (3 to 5 percent of all cases), treatment may include surgery, radiation, or chemotherapy. For NF2, improved diagnostic technologies, such as MRI, can reveal tumors as small as a few millimeters in diameter, thus allowing early treatment. Surgery to remove tumors completely is one option but may result in hearing loss. Other options include partial removal of tumors, radiation, and if the tumors are not progressing rapidly, the conservative approach of watchful waiting. Genetic testing is available for families with documented cases of NF1 and NF2. New (spontaneous) mutations cannot be confirmed genetically. Prenatal diagnosis of familial NF1 or NF2 is also possible utilizing amniocentesis or chorionic villus sampling procedures.

What is the prognosis?

In most cases, symptoms of NF1 are mild, and patients live normal and productive lives. In some cases, however, NF1 can be severely debilitating. In some cases of NF2, the damage to nearby vital structures, such as other cranial nerves and the brainstem, can be life-threatening.

What research is being done?

Several years ago, research teams located the exact position of the NF1 gene on chromosome 17. The product of the NF1 gene is a large and complex protein called neurofibromin. One portion of this protein is similar to a family of proteins called GAP (guanosine triphosphatase-activating protein). Scientists have demonstrated that GAP proteins play a significant role in tumor suppression in certain cancers. The similarity of the NF1 protein to GAP proteins suggests that the NF1 protein may have a similar switching role in the development of neurofibromas. Scientists theorize that defects in the gene may lessen or inhibit the normal output of its protein and allow the irregular cell growth that may lead to tumor development. Intensive efforts have led to the identification of the NF2 gene on chromosome 22. The NF2 gene product is a tumor suppressor protein. Basic studies in molecular genetics may lead one day to nonsurgical or pharmacologic treatments aimed at retarding or suppressing tumors associated with the neurofibromatoses. The Interinstitute Medical Genetics Research Program at the NIH Clinical Center conducts NF2 family history research. Using specimens from some of the families, scientists have isolated and sequenced the NF2 gene and have described two different patterns of clinical features in NF2 patients. Investigators are continuing to study these patterns to see if they correspond to specific types of gene mutations.

If you have any specific question, you can ask the doctors at www.mymedexpert.com

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Who can I go to for help with gestational diabetes?

Tuesday, May 27th, 2008

Women who have gestational diabetes benefit most from a team approach, with each member playing a specific role in the management and treatment of the condition. However, the specific members of the team will vary.

In general,women have a number of choices in how they get prenatal care. They might go to an obstetrician/gynecologist (OB/GYN), a nurse-midwife, a family physician, or another health care provider. These health care providers are usually the first line of defense against gestational diabetes because they do the initial testing for the condition.

Once you are diagnosed with gestational diabetes, these providers may decide to stay on your team, working with other providers to manage your care, or they may suggest that one of the following specialists leads your team:

  • A maternal-fetal medicine specialist—a doctor who cares for a woman during pregnancy, labor, and delivery only; or
  • Another doctor who specializes in treating pregnant women with high-risk conditions.

S hould you need more extensive treatment and management to keep your gestational diabetes under control, it is likely that you will have to see one of these specialists to help ensure a healthy pregnancy.

You should also have a registered dietitian, a person with a bachelor’s degree or higher in dietetics, who is registered with the American Dietetic Association (ADA), on your team. Your health care provider can recommend a dietitian, or you can call the ADA at 1-800-366-1655 to find one.

In addition, you may have one or both of the following providers on your team:

  • A diabetes specialist—a diabetologist (a doctor who specializes in diabetes care), endocrinologist (a doctor who specializes in treating hormone-related conditions, like diabetes), or another medical doctor who provides health services specifically for diabetics.
  • A diabetes educator—a certified diabetes educator (CDE), nurse educator, registered nurse (RN), or another health care provider who can explain gestational diabetes and help you manage your condition during your pregnancy.

K eep in mind that your treatment and management team may include other members, too. This booklet uses the term health care provider to describe your doctor and the other members of your health care team.

Source:National Institute of Child Health and Human Development, NIH, DHHS

If you have any specific question, you can ask the doctors at www.mymedexpert.com

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Gestational Diabetes

Tuesday, May 27th, 2008

What is gestational diabetes?
Gestational diabetes, also known as gestational diabetes mellitus, GDM, or diabetes during pregnancy, is a type of diabetes that only pregnant women get. If a woman gets diabetes when she is pregnant, but never had it before, then she has gestational diabetes.

Normally, your stomach and intestines digest the carbohydrate in your food into a sugar called glucose. Glucose is your body’s main source of energy. After digestion, the glucose moves into your blood to give your body energy.

To get the glucose out of your blood and into the cells of your body, your pancreas makes a hormone called insulin.  If you have diabetes, either your body doesn’t make enough insulin, or your cells can’t use it the way they should.  Instead, the glucose builds up in your blood, causing diabetes, or high blood sugar.

Gestational diabetes happens in about 5 percent of all pregnancies, or about 200,000 cases a year in the United States.
How do I know if I have gestational diabetes?
Health care providers will test most women who have average risk for gestational diabetes when they are between 24-28 weeks pregnant.

If your risk is higher-than-average, your health care provider may test you earlier, possibly as soon as you know you are pregnant.

There are two approaches to testing for gestational diabetes:

* In the one-step approach, a woman will fast for 4 to 8 hours. Then a health care provider will measure her blood sugar and will do so again 2 hours after she drinks a sugar drink.  This type of test is called an oral glucose tolerance test.
* In the two-step approach, a health care provider measures a woman’s blood sugar 1 hour after drinking a sugar drink.  Women whose blood sugar is normal after 1 hour probably don’t have gestational diabetes.  Women whose blood sugar is high after 1 hour will then have an oral glucose tolerance test to see if they have gestational diabetes.

Will gestational diabetes affect the baby?
Most women who have gestational diabetes give birth to healthy babies, especially when they control their blood sugar, eat a healthy diet, exercise, and keep a healthy weight.

In some cases, though, gestational diabetes can affect the pregnancy and baby. Some potential risks include:

* The baby’s body is larger than normal—called macrosomia.  A large baby may need to be delivered by a surgical procedure called cesarean section, instead of naturally through the vagina.
* The baby’s blood sugar is too low—called hypoglycemia.  Starting to breastfeed right away can help get more glucose to the baby.  The baby may also need to get glucose through a tube into his or her blood.
* The baby’s skin turns yellowish and the whites of the eyes may change color—called jaundice.  This condition is easily treated and is not serious if treated.
* The baby may have trouble breathing and need oxygen or other help—called Respiratory Distress Syndrome.
* The baby may have low mineral levels in the blood.  This problem can causes muscle twitching or cramping, but can be treated by giving the baby extra minerals

How is gestational diabetes treated?
Many women with gestational diabetes have healthy pregnancies and healthy babies because they follow a treatment plan from their health care provider.

Each woman should have a specific plan designed just for her needs, but there are some general ways to stay healthy with gestational diabetes:

* Know your blood sugar and keep it under control – By testing how much sugar is in your blood, it is easier to keep it in a healthy range.  Women usually need to test a drop of their blood several times a day to find out their blood sugar level.
* Eat a healthy diet – Your health care provider can make a plan with the best diet for you.  Usually controlling carbohydrates is an important part of a healthy diet for women with gestational diabetes because carbohydrates affect blood sugar.
* Get regular, moderate physical activity – Exercise can help control blood sugar levels.  Your health care provider can tell you the best activities and right amount for you.
* Keep a healthy weight – The amount of weight gain that is healthy for you will depend on how much you weighed before pregnancy. It is important to track your both your overall weight gain and weekly rate of gain.
* Keep daily records of your diet, physical activity, and glucose level – Women with gestational diabetes should write down their blood sugar numbers, physical activity, and everything they eat and drink in a daily record book.  This can help track how well the treatment is working and what, if anything, needs to be changed.

Some women with gestational diabetes will also need to take insulin to help manage their diabetes.  The extra insulin can help lower their blood sugar level.  Some women might also have to test their urine to see if they are getting enough glucose.
What happens after the baby is born?
For most women, blood sugar levels go back to normal quickly after the baby is born.  Six weeks after the baby is born, you should have a blood test to check your blood sugar levels.  The test also checks for your risk of getting diabetes in the future.

If you know you want to get pregnant again, have a blood sugar test up to three months before becoming pregnant to make sure your blood sugar level is normal.

Children whose mothers had gestational diabetes are at higher risk for obesity, abnormal glucose tolerance, and diabetes.

Women who have had gestational diabetes and children whose mothers had gestational diabetes are at higher lifetime risk for obesity and type 2 diabetes.  It may be possible to prevent type 2 diabetes through lifestyle changes.  Talk to your health care provider about diabetes and increased risk from gestational diabetes.

Source: National Institute of Child Health and Human Development, NIH, DHHS

If you have any specific question, you can ask the doctors at www.mymedexpert.com

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What Are Some Promising Areas of Psoriasis Research?

Tuesday, May 27th, 2008

Significant progress has been made in understanding the inheritance of psoriasis. A number of genes involved in psoriasis are already known or suspected. In a multifactor disease (involving genes, environment, and other factors), variations in one or more genes may produce a greater likelihood of getting the disease. Researchers are continuing to study the genetic aspects of psoriasis. Since discovering that inflammation in psoriasis is triggered by T cells, researchers have been studying new treatments that quiet immune system reactions in the skin. Among these are treatments that block the activity of T cells or block cytokines (proteins that promote inflammation). Several of these drugs are awaiting approval by the U.S. Food and Drug Administration (FDA).

Advances in laser technology are making it possible for doctors to experiment with laser light treatment of localized plaques. A UVB laser was recently tested in a study that was conducted at several medical centers. Although improvements in the skin were noted, this treatment is not without possible side effects. In some patients, the skin became inflamed, blistered, or discolored following treatment.

If you have any specific question, you can ask the doctors at www.mymedexpert.com

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How Is Psoriasis Diagnosed?

Tuesday, May 27th, 2008

Occasionally, doctors may find it difficult to diagnose psoriasis, because it often looks like other skin diseases. It may be necessary to confirm a diagnosis by examining a small skin sample under a microscope. There are several forms of psoriasis. Some of these include:

  • Plaque psoriasis–Skin lesions are red at the base and covered by silvery scales.
  • Guttate psoriasis–Small, drop-shaped lesions appear on the trunk, limbs, and scalp. Guttate psoriasis is most often triggered by upper respiratory infections (for example, a sore throat caused by streptococcal bacteria).
  • Pustular psoriasis–Blisters of noninfectious pus appear on the skin. Attacks of pustular psoriasis may be triggered by medications, infections, stress, or exposure to certain chemicals.
  • Inverse psoriasis–Smooth, red patches occur in the folds of the skin near the genitals, under the breasts, or in the armpits. The symptoms may be worsened by friction and sweating.
  • Erythrodermic psoriasis–Widespread reddening and scaling of the skin may be a reaction to severe sunburn or to taking corticosteroids (cortisone) or other medications. It can also be caused by a prolonged period of increased activity of psoriasis that is poorly controlled.
  • Psoriatic arthritis–Joint inflammation that produces symptoms of arthritis in patients who have or will develop psoriasis.

If you have any specific question, you can ask the doctors at www.mymedexpert.com

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What Causes Psoriasis?

Tuesday, May 27th, 2008

Psoriasis is a skin disorder driven by the immune system, especially involving a type of white blood cell called a T cell. Normally, T cells help protect the body against infection and disease. In the case of psoriasis, T cells are put into action by mistake and become so active that they trigger other immune responses, which lead to inflammation and to rapid turnover of skin cells. In about one-third of the cases, there is a family history of psoriasis. Researchers have studied a large number of families affected by psoriasis and identified genes linked to the disease. (Genes govern every bodily function and determine the inherited traits passed from parent to child.) People with psoriasis may notice that there are times when their skin worsens, then improves. Conditions that may cause flareups include infections, stress, and changes in climate that dry the skin. Also, certain medicines, including lithium and betablockers, which are prescribed for high blood pressure, may trigger an outbreak or worsen the disease.

 

If you have any specific question, you can ask the doctors at www.mymedexpert.com

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Things That Make Atopic Dermatitis Worse

Tuesday, May 27th, 2008

Irritants and allergens can make atopic dermatitis worse.

Irritants are things that may cause the skin to be red and itchy or to burn. They include:

  • Wool or man-made fibers
  • Soaps and cleaners
  • Some perfumes and makeup
  • Substances such as chlorine, mineral oil, or solvents
  • Dust or sand
  • Cigarette smoke.

Allergens are allergy-causing substances from foods, plants, animals, or the air. Common allergens are:

  • Eggs, peanuts, milk, fish, soy products, and wheat
  • Dust mites
  • Mold
  • Pollen
  • Dog or cat dander.

Stress, anger, and frustration can make atopic dermatitis worse, but they haven’t been shown to cause it. Skin infections, temperature, and climate can also lead to skin flares. Other things that can lead to flares are:

  • Not using enough moisturizer after a bath
  • Low humidity in winter
  • Dry year-round climate
  • Long or hot baths and showers
  • Going from sweating to being chilled
  • Bacterial infections

If you have any specific question, you can ask the doctors at www.mymedexpert.com

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Atopic Dermatitis - Diagnosis

Tuesday, May 27th, 2008

Diagnosis is based on the symptoms. Each person has his or her own mix of symptoms that can change over time. Doctors will ask for a medical history to:

  • Learn about your symptoms
  • Know when symptoms occur
  • Rule out other diseases
  • Look for causes of symptoms.

Doctors also may ask about:

 

  • Other family members with allergies
  • Whether you have conditions such as hay fever or asthma
  • Whether you have been around something that might bother the skin
  • Sleep problems
  • Foods that may lead to skin flares
  • Treatments you have had for other skin problems
  • Use of steroids or medicine.

There isn’t a certain test that can be used to check for this disease. But you may be tested for allergies by a dermatologist (skin doctor) or allergist (allergy doctor).

If you have any specific question, you can ask the doctors at www.mymedexpert.com

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Who Gets Atopic Dermatitis?

Tuesday, May 27th, 2008

Atopic dermatitis is most common in babies and children. But it can happen to anyone. People who live in cities and dry climates may be more likely to get this disease.

When children with atopic dermatitis grow older, this problem can improve or go away. But the skin may stay dry and easy to irritate. At other times, atopic dermatitis is a problem in adulthood.

You can’t “catch” the disease or give it to other people.

If you have any specific question, you can ask the doctors at www.mymedexpert.com

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What Is Atopic Dermatitis?

Tuesday, May 27th, 2008

Atopic dermatitis is a long-term skin disease. “Atopic” refers to a tendency to develop allergy conditions. “Dermatitis” means swelling of the skin.

The most common symptoms of atopic dermatitis are:

  • Dry and itchy skin
  • Rashes on the face, inside the elbows, behind the knees, and on the hands and feet.

Scratching the skin can cause:

  • Redness
  • Swelling
  • Cracking
  • “Weeping” clear fluid
  • Crusting
  • Thick skin
  • Scaling.

Often, the skin gets worse (flares), then it improves or clears up (remissions).

If you have any specific question, you can ask the doctors at www.mymedexpert.com

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