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Medical Information

diabetes  MS  Asthma  HPS

Diabetes

Newsletter spices up recipes for diabetics - for information about foods, recipes, and dinner menus for diabetics go to - www.bhg.com/members.

Diabetes - Many Latinos/Hispanics suffer from this dreaded disease (one out of every 5).  This disease can have a crippling affect on the eyes, heart, an major limbs of the body if not taken care off.  I've have seen many cases where good people's lives have been turned-around because of this.  We take our health for granted until something like this happens to us.  For more information call the American Diabetes Association at 1 800 DIABETES (342 2383) - hablan Espanol.

Diabetes mellitus is the nation's seventh-leading killer, contributing to about 200,000 deaths a year.  The number of people diagnosed with diabetes has increased sixfold in the last 40 years.

It is the leading cause of adult blindness, end-stage kidney failure and nontraumatic lower limb amputations.  It also is a major contributor to heart disease and stroke.

Diabetes is caused by a deficiency of the hormone insulin, which "unlocks" cells in the body, allowing sugar to enter and fuel them.  There are two types:

Type 1 diabetes
An estimated 1 million Americans have Type 1 diabetes, formerly known as juvenile diabetes, an auto-immune disorder.  The immune system attacks insulin-producing cells of the pancreas, gradually reducing the amount of insulin the body makes.

Who is at risk:  Siblings and children of people with Type 1 diabetes.

When it develops:  Typically diagnosed in people under 20.

Warning signs:  Frequent urination, unusual thirst, extreme hunger, unusual weight loss, extreme fatigue, irritability.

Treatment:  Requires insulin injections and management of diet and exercise.

Type 2 diabetes

A metabolic disorder resulting from the body's inability to make enough insulin or to properly use it.  An estimated 15 million people have Type 2 diabetes, once known as adult-onset diabetes.

Who is at risk:  People who have a family history of diabetes, are over 45, overweight, don't exercise regularly, have low HDL cholesterol or high triglycerides, certain racial and ethnic groups (African Americans, Hispanics, Asians, American Indians), women who have had gestational diabetes.

When it develops: Generally in people over 40.  It is showing up increasingly in younger populations.

Warning signs:  Any of the Type 1 symptoms, plus frequent infections, blurred vision, cuts or bruises that are slow to heal, tingling or numbness in the hands or feet, or recurring skin, gum or bladder infections. Often there are no symptoms.

Treatment:  The disease can be managed with one or a combination of insulin injections, oral medications, or diet and exercise.

Diabetes: Bigger risk for obese children?

A Finnish study suggested that overweight children were more likely to develop Type 1.

Doctors know that overweight children are at greater risk for developing Type 2 diabetes - once called adult-onset diabetes.

But new research raises the question of whether obesity could also be a factor in the rarer Type 1 diabetes, which used to be called juvenile diabetes.

A Finnish study, published today in the journal Diabetes Care, indicated that overweight children older than 3 were more than twice as likely to develop Type 

1  .The possible obesity connection is of interest to researchers who have been grappling with a 33 percent surge in diabetes prevalence among American adults during the 1990s and the alarming recent appearance of Type 2 diabetes among children. The sharp increase parallels a spike in obesity, which is considered an important contributing factor in Type 2 diabetes.

"This is the first report linking obesity with the development of Type 1," said Robert Sherwin, a Yale University medical professor and president of the American Diabetes Association. "This is unexpected. . . . This would need to be confirmed in other populations."

"It is intriguing," said Dr. Seth Braunstein, chief of the diabetes program at the Hospital of the University of Pennsylvania. "It may offer another insight into the causes of Type 1 diabetes."

Diabetes is a condition of insulin deficiency or a diminished ability of the body to use the hormone. Insulin is important because it helps sugar enter cells.

In Type 1 diabetes, the body's immune system attacks insulin-producing cells of the pancreas, reducing the amount of insulin the organ can make. In Type 2 diabetes, the body's cells gradually become less responsive to insulin.

In either type, sugar remains in the bloodstream and, over time, can damage vital organs.

Nearly 16 million people in the United States have diabetes, the vast majority of them Type 2. While much of the rise in diabetes is attributed to new cases of Type 2, experts say it is likely that Type 1 is also climbing.

They believe Type 1 diabetes is triggered by a combination of genetics and environmental factors, possibly including viruses.

The Finnish study examined the medical records of more than 1,000 children from infancy. The study included all the children who developed Type 1 diabetes in Finland during a three-year period in the late 1980s and, for comparison, a group of children without the disease. In Finland, the rate of children with this form of diabetes has increased fourfold in the last half-century.

The Finnish finding is surprising, said Sherwin, the diabetes association president, because Type 1 diabetes is generally associated with weight loss.

"We haven't thought to look at [obesity] as an issue," Sherwin said. "It is not the usual thing."

It is possible, he said, that children with Type 1 diabetes had been overweight before developing symptoms and then dropped the pounds by the time they were diagnosed. "Maybe people have been missing the boat," he said.

Interestingly, the study also found that the risk of Type 1 was about 40 percent greater for the tallest 15 percent of children.

Elina Hypponen, the study's lead author and a research associate at Finland's Tampere School of Public Health, said there could be various explanations for the findings. The association between the disease and both heavier and taller children could be traced to genetics. Or, she said, the extra weight may be playing a role.

"Actually, it is impossible to say what these things truly mean," she said.

Another unknown is to what extent the Finnish findings are applicable in the United States, with its much more diverse population.

"We need to look at this more carefully," Sherwin said. "Whether it will be relevant to Philadelphia? It might be."

For more information

Contact the American Diabetes Association at 1-800-342-2383 or www.diabetes.org, or the U.S. Centers for Disease Control and Prevention at www.cdc.gov/health/diabetes.htm


Multiple Sclerosis (MS)

Take a step to end MultipleSclerosis 1-800-fightms http://nationalmssociety.org

MS Challenge Walk

3 days. 50 miles. Closer to a cure. People with MS count on us. Can we count on you?

Who you are is illuminated by how you help. For those with the passion to make a positive difference, there is the MS Challenge Walk. This is your walk because you have the determination to do the right thing, to make the world a better place. You know the enduring light of transformation begins with a tiny flame and that one long journey over 3 days will shorten the road to the cure for multiple sclerosis.

Among the devastating setbacks for those who have multiple sclerosis, or MS, is a loss of the ability to put one foot in front of the other. As with other events of the National Multiple Sclerosis Society, the MS Challenge Walk affirms our commitment to stop MS. When you walk, you move the world closer to a cure.

2003 Calendar

May Charlotte May 30-June 1 From: White Oak SC To: Charlotte NC www.themschallenge.org

St. Louis May 30-June 1 St. Louis www.gatewaymschallenge.org

June Kansas/Missouri June 6-8 From: Smithville Lake To: Kansas City www.msmidamerica.org

Northern California June 20-22 The East Bay to San Francisco www.msconnection.org/events/ challenge/challengeinfo.htm

September Colorado's Wild West September 5-7 Along the Colorado Rocky Mountain foothills to Denver www.nationalmssociety.org/ coc/home

Nation's Capital September 5-7 from Annapolis, MD to: Washington, D.C www.msandyou.org/ms_ challenge

New England September 12-14 Cape Cod www.msnewengland.org/ challenge/index.html

Southern California September 12-14 Carlsbad to San Diego www.mymschallenge.com

Minnesota September 20-22 www.mnms.org

October Pennsylvania/New Jersey October 10-12 Historic Philadelphia www.walk4ms.org

South Florida October 17-19 Boca Raton to Key Biscayne https://www.nationalmssociety.org/ fls/event/event_detail.asp?e=6886

It is not about being athletic—it is about showing compassion. This may be the greatest walk you ever take. Through this 3-day, 50-mile event, participants raise money for vital research and programming dedicated to finding a cure—and aiding those who live with MS.

Meeting the needs of others ... is what makes life
worth living. Eleanor Roosevelt

3 days. 50 miles. Closer to a cure.
People with MS count on us. Can we count on you?

2003 Ca
lendar

_______________________

Hope for MS Sufferers?  Multiple Sclerosis -Drug slows onset of MS, study finds Patients who had early signs of the disease were given Avonex. It costs $10,000 a year, though.

By Shankar Vedantam
INQUIRER STAFF WRITER

Aggressively treating patients with very early signs of multiple sclerosis - well before the crippling nerve disease is usually diagnosed - can delay the onslaught of the disease and mute its damage.

A study, conducted in 50 centers across the United States and Canada, including in Philadelphia, found results so dramatic that researchers stopped the trial midway and called for early drug intervention for all patients at risk for MS.

"This is huge," said Steven Galetta, a professor of neurology at the University of Pennsylvania, one of the centers that studied the impact of early treatment with the drug Interferon beta-1A. "It has profound implications regarding those patients at high risk for MS."

"The earlier you treat MS, the better off you are," he said.

The study is to be published tomorrow in the New England Journal of Medicine.

The study was sponsored by Cambridge, Mass.-based Biogen Inc., a biotechnology firm that sells the drug Avonex, used in the trial. Avonex is commonly used for MS patients but has not been prescribed so early.

Multiple sclerosis affects about 350,000 people in the United States, according to the National Multiple Sclerosis Society. Women are two to three times more likely to be affected than men.

The disease is characterized by symptoms such as blurred or weakened vision, weakness in the fingers and toes, numbness and imbalance. It sometimes progresses to the point where patients are partially paralyzed and wheelchair-dependent.

Scientists have found that symptoms are caused by the destruction of the myelin sheath that covers nerve fibers – akin to the breakdown of the insulation of a telephone wire. This disrupts the transmission of messages within the nervous system and increases the risk of damage to the underlying nerves.

Piecing together a diagnosis of MS from early symptoms can be difficult since they are common to other conditions and sometimes go away. Doctors have so far relied on multiple outbursts - or relapses - and MRI brain scans to make a diagnosis and begin treatment.

The new study and other research indicates that waiting to treat MS may be harmful. Long before physical symptoms develop, the brains of MS patients appear to undergo a steady, stealthy assault.

And for each flare-up in physical symptoms, said doctors, there may be a dozen silent attacks in the brain. These attacks can cause lapses in concentration, memory, attention and judgment as well as physical disabilities.

The study recruited 383 patients who had reported a single outburst of symptoms. An MRI scan established that they were at risk for MS. One half received weekly injections of interferon beta-1A, a drug currently used to treat fully diagnosed MS, while the rest received a dummy injection or placebo.

After three years of follow-up, scientists found that 44 percent fewer patients in the drug group had developed a second outburst of symptoms compared with those in the placebo group. Since the second outburst is the traditional point at which a diagnosis of MS is made, the scientists concluded that their treatment had substantially delayed the disease.

Even more impressive, according to the researchers, treated patients saw 90 percent fewer brain lesions in certain MRI scans, a crucial benefit, given that such damage to the brain is irreversible.

Eventually half the patients in the placebo group went on to develop MS, compared with just over a third in the group that got the drug.

Lawrence Jacobs, professor of neurology at the State University of New York in Buffalo and the lead investigator of the study, said the results boded well for long-term prognosis.

"It's very good to increase the length of time between the first and second relapse and reduce the number of lesions," he said.

Two difficulties can prevent the implementation of the study results: A year's supply of Avonex can cost $10,000, raising questions about access to care. Second, with the inherent difficulty in diagnosis, patients need to take early symptoms seriously and consult a neurologist, Jacobs said.

The most common early signs to watch for, he said, are lost vision in one eye, pain with eye movements, double vision, coordination problems, and an electric shock-like sensation down the spine when the chin is pressed against the chest.

Shankar Vedantam's e-mail address is svedantam@phillynews.com


Asthma

There is so much information about asthma that I have a whole page dedicated to it, click on asthma to view it.


Hermansky Pudlok Syndrome (HPS)

Index

About Hermansky-Pudlak Syndrome

Hermansky-Pudlak Syndrome (HPS) is a genetic metabolic disorder which causes albinism, visual impairment, a platelet dysfunction with prolonged bleeding, and progressive symptoms including pulmonary fibrosis, inflammatory bowel disease and kidney disease. The severity of HPS ranges from very mild with few symptoms to severe and disabling. Since HPS is an autosomal recessive disorder, both parents are expected to be carriers of the abnormal gene.

ALBINISM

The type of albinism in HPS is a tyrosinase-positive form, which means that individuals may present with varied amounts of pigmentation. Some persons may have very light hair and fair features, while others may have dark hair and appear to have ocular albinism.

The visual impairment inherent in HPS persons is a result of the lack of pigment during eye development. This results in decreased acuity and frequently to legal blindness, photophobia (light sensitivity), strabismus (crossed eyes), and nystagmus (involuntary movement of the eyes).

PLATELET DYSFUNCTION

Platelets are a part of blood which helps clotting. In HPS, the platelets do not function properly. For platelets to work, they must have dense bodies on them, much like chips on a chocolate chip cookie. These chips are filled with chemicals, which when released, cause the platelets to clump and stick together. The platelets of individuals with HPS do not have these dense bodies. Without them, HPS platelets do not work, causing poor clotting or a bleeding tendency.

What are the symptoms of platelet dysfunction?

Persons with HPS may have a tendency to bruise easily. They may experience frequent nosebleeds or when cut, tend to bleed longer. Other persons may have unusual bleeding episodes (e.g., heavy menstrual bleeding, bleeding with dental procedures). The amount of prolonged bleeding varies in individuals from very mild to life threatening.

CEROID ACCUMULATION

Ceroid is the name given to the waxlike substance made by certain cells in persons with HPS. Ceroid accumulation may cause dysfunction in some organs including the intestines, lungs and kidneys.

What are the symptoms of ceroid accumulation?

When the intestines become affected by ceroid, it may cause diarrhea, weight loss, cramps and possibly blood in the stool. These manifestations resemble a common disease called Crohn's disease.

More commonly, when lungs become affected, shortness of breath and abnormal fatigue with exertion might be a sign. The disease can progress to pulmonary fibrosis having scar tissue restrict the inflation of the lungs.


How it is Diagnosed

Standard blood tests [i.e., prothrombin time (PT), partial thromboplastin time (PTT), platelet count, and a bleeding time] DO NOT identify the platelet defect in HPS. For proper diagnosis the platelets must be examined under an electron microscope to observe the absence of dense bodies (the chocolate chips). Special laboratories are needed for this test. Contact the HPS Network if more information or assistance is needed.


Standard of Care

First and foremost, every person with albinism should have an understanding of HPS and inform their physician of its possibility, especially before any medical or dental procedures. A prompt diagnosis would be wise.

At the moment there is no one particular treatment for HPS, however, your physician can help you handle the symptoms that may arise. A good understanding of the signs and symptoms of HPS will help you inform your doctor when you might need medical attention.

You may want to discuss with your physician the following:

1. The use of a Medicalert Bracelet or other identification to notify care givers of your bleeding disorder.

2. The avoidance of aspirin, products containing aspirin, and any other products, which may compromise platelet function.

3. The importance of good dental care. Your dentist must be aware of the syndrome because some dental procedures may require special medications and precautions.

4. The proper treatment for nosebleeds. Nasal packing should only be done under medical supervision because removal may cause further bleeding.

5. The possible benefits of conscientious treatments for upper respiratory infections and avoidance of smoking.

6. The use of Vaseline gauze and pressure dressings on cuts or abrasions that require coverings.

7. The roles of thrombin on gelfoam for surface bleeding and the role of DDAVP and platelets for serious bleeding.

Also, actively join the HPS Network in our pursuits and friendship. We are in frequent communication with researchers and will make any developments available to its members.


How to Contact the Network

Hermansky-Pudlak Syndrome Network Inc.
One South Road
Oyster Bay, New York 11771-1905
516-922-3440
1-800-789-9HPS
fax - 516-922-4022
mailto:appell@worldnet.att.net
Founder and President: Donna Jean Appell

About our Services

The Hermansky-Pudlak Syndrome Network Inc. is a volunteer, not-for-profit, self-help support group for persons and families dealing with Hermansky-Pudlak Syndrome. Founded in 1992, its membership has grown to include persons from all around the world. It does not diagnose or treat HPS, nor does it provide genetic counseling. We are involved in networking individuals, families and doctors for the purpose of education and research. We publish a newsletter, a pamphlet, and maintain a bibliography of materials on Hermansky-Pudlak Syndrome. We hold an annual Family Conference for education and support. Each year we become closer finding strength and courage in each other, knowing that we are a large genetic family whose connection lies at the very core of human existence. We promote research activities and are presently involved in research at the National Institute of Health and the University of Minnesota. If you are interested in membership or further information please contact us.


Selected readings

King R.A., Hearing V.J., Creel D., Oetting W.S., 1995, Albinism, in The Metabolic and Molecular Basis of Inherited Disease, 7th edition, Scriver CR, Beaudet AL, Sly WS, Valle D (eds), McGraw-Hill, New York, pp. 4353-4392.

Wildenberg S.C., Oetting W.S., Almadovar C., Krumwiede M., White J.G., King R.A., 1995, The gene causing Hermansky-Pudlak Syndrome in a Puerto Rican population maps to Chromosome 10q2, Am. J. Hum. Genet. 57:755-765.


diabetes  MS  Asthma  HPS

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