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An international team led by a National Institutes of Health researcher has found that carriers of a rare, genetic condition called Gaucher disease face a risk of developing Parkinson’s disease more than five times greater than the general public. The findings were published today in the New England Journal of Medicine.

In previous studies, several genes have been linked to Parkinson’s disease. However, researchers say their work conclusively shows that mutations in the gene responsible for Gaucher disease are among the most significant risk factors found to date for Parkinson’s disease. The discovery was made by investigators from the National Human Genome Research Institute (NHGRI) and the National Institute on Aging (NIA), both parts of the National Institutes of Health, in collaboration with scientists from 16 research centers across four continents.

“This analysis illustrates how studying a rare but important disorder, like Gaucher disease, can provide powerful clues about more common disorders, such as Parkinson’s disease,” said NHGRI Scientific Director Eric Green, M.D., Ph.D. “Understanding the genetic basis of rare conditions can thus provide insights into normal cellular and biological processes, which in turn may lead to improved diagnostic and therapeutic strategies.”

Parkinson’s disease, a neurological condition that typically causes tremors and stiffness in movement, affects about 1 to 2 percent of people over the age of 60. The chance of developing Parkinson’s disease increases with age and involves a combination of environmental risk factors and genetic susceptibility.

Gaucher disease occurs when an individual inherits two defective copies of the GBA gene, which codes for an enzyme called glucocerebrosidase. This enzyme breaks down a fatty substance called glucocerebroside, which, when not properly disposed of, can harm the spleen, liver, lungs, bone marrow and, in some cases, the brain. The enzyme functions in a part of the cell called the lysosome, where cellular components are broken down, or metabolized, for recycling.

In the past, it was thought that people who carry just one altered GBA gene were unaffected. However, in recent years, research groups at NHGRI and elsewhere have completed small studies suggesting that carriers of GBA alterations may have an increased risk of developing Parkinson’s disease.

“The opportunity was right to amass the data into one powerful study,” said Ellen Sidransky, M.D., senior investigator in NHGRI’s Medical Genetics Branch, who is the lead author of the study and coordinated the effort. “Our analyses of the accumulated data provide a convincing association between GBA alterations and Parkinson’s disease.”

The research team examined the frequency of GBA alterations in 5,691 patients with Parkinson’s disease, including 780 Ashkenazi Jews, a population in which a particular type of Gaucher disease is more prevalent. Those data were matched against 4,898 unaffected volunteers, called controls, which included 387 Ashkenazi Jews.

At least one of the two common GBA alterations was found in 3.2 percent of Parkinson’s patients and 0.6 percent of controls. Among the Ashkenazi subjects, 15.3 percent of those with Parkinson’s disease carried a GBA alteration compared to 3.4 percent of Ashkenazi controls.

In addition to screening for the two common alterations, five of the research centers sequenced the entire GBA gene in 1,642 non-Ashkenazi patients with Parkinson’s disease and 609 non-Ashkenazi controls. Using this more thorough method, they found many additional alterations associated with Parkinson’s disease, and showed that 7 percent of patients carried an alteration, indicating that it is important to look beyond the two common alterations to gain a true picture of risk in the general population.

Besides significantly increasing the risk of Parkinson’s disease, GBA alterations also appear to increase the likelihood of early disease onset. According to the new study, Parkinson’s patients with GBA alterations developed symptoms an average of four years earlier than other Parkinson’s patients.

Overall, the researchers found that the association between GBA and Parkinson’s disease is not confined to any single ethnicity or to specific GBA mutations, though they did find that some gene alterations are seen more frequently in certain populations. Compared with the general population, in which GBA alterations occur in fewer than one out of 100 people, GBA alterations occur in at least one out of 16 people of Ashkenazi descent. However, many GBA mutation carriers as well as patients with Gaucher disease never develop Parkinson’s disease, so this appears to be only one of several risk factors involved.

Further research is in progress to understand the full spectrum GBA alterations, their biological significance and their association with both Parkinson’s and Gaucher disease. The researchers are also pursuing ways to provide more accurate guidance based on the findings for genetic counseling and for the development of new therapeutic strategies for these disorders.

Along with NIH, the study included research centers in New York City, Jacksonville, Fla. and Seattle, as well as in Brazil, Canada, France, Germany, Israel, Italy, Japan, Norway, Portugal Singapore and Taiwan. The data were collected and analyzed at NHGRI.

People who are super obese and those with the most chronic health problems face an increased risk for dying within a year after weight-loss surgery, a new U.S. study has found.

The research involved 856 men and women who had bariatric (weight-loss) surgery at 12 Veterans Affairs medical centers between 2000 and 2006. They averaged 54 years old and had an average body-mass index (BMI) of 48.7. BMI is a measurement based on height and weight, and a BMI of 40 or greater is considered class 3 or morbid obesity.

About 36 percent of the group was considered super obese, with a BMI of 50 or higher. In addition, 8 percent also had such chronic diseases as diabetes and heart disease.

During the follow-up, 54 people died, including 1.3 percent who died within 30 days of their surgery, 2.1 percent who died within 90 days of surgery and 3.4 percent who died within a year, the study found.

Those who were super obese and those with co-existing chronic diseases had the highest risk for early death. Super obese people accounted for 30 of the 54 deaths and had 30-day, 90-day and one-year death rates of 2 percent, 3.6 percent and 5.2 percent, respectively. People with co-existing health problems had death rates of 1.5 percent after 30 days, 5.8 percent after 90 days and 10.1 percent at one year.

The chances of dying after bariatric surgery may be greater for people who are super obese, according to the researchers, because the added abdominal fat makes the procedure more difficult, wound complications and blood clotting are more likely and they’re more apt to have obesity-related illnesses.

“The results of this study should inform discussions with patients with regard to the potential risks and benefits of bariatric surgery,” wrote co-author Dr. David Arterburn, of Group Health Research Institute in Seattle, and his colleagues in their report, published in the October issue of Archives of Surgery.

“These findings also suggest that the risks of bariatric surgery in patients with significant comorbidities, such as congestive heart failure, complicated diabetes and chronic obstructive pulmonary disease, should be carefully weighed against potential benefits in older male patients and those with super obesity,” they concluded.

Tanning bed operators appear to be largely abiding by parental consent laws, but the laws don’t go far enough in limiting teens’ exposure to harmful ultraviolet rays, a new study shows.

Tanning bed operators told data collectors posing as 15-year-old girls that as long as they had parental consent, they could tan as often as they wished, the researchers said.

That runs counter to a U.S. Food and Drug Administration recommendation to limit exposure during the first week to no more than three sessions — which experts say is already too much.

“Tanning is a carcinogen for everybody, but especially for teens who are very interested in looking tan and don’t often think about the consequences of any of their behaviors,” said study principal investigator Joni A. Mayer, a professor of public health at San Diego State University. “Our data and other data indicate that those under age 17 need to be banned from tanning beds.”

The findings are published in the September issue of Archives of Dermatology.

Rates of skin cancer have been rising in the United States, particularly among women aged 15 to 39, according to background information in the study. Exposure to UV radiation from indoor tanning lamps has been linked to both melanoma and squamous cell cancer. For young women, using tanning beds for the first time before age 35 increases melanoma risk by as much as 75 percent, previous research has shown.

In response to skin cancer concerns, 28 states had laws as of 2005 that put some restrictions on indoor tanning, and 21 states required parental consent, mostly a parental signature, according to the study.

Several states have tighter legislation pending, including banning teens under age 18 from using tanning beds altogether; requiring parents of minors to be present in front of tanning bed operators when they sign the consent form; and requiring consent forms to specify the precise number of tans that are permitted.

In the study, data collectors posing 15-year-old girls called 3,647 tanning businesses across the United States and told them they were fair-skinned and had never tanned before.

About 87 percent of tanning salon operators told the girls they needed parental consent, including nearly 93 percent of those in states with parental consent laws and 78 percent of those in states without such laws.

Although about 11 percent of the facilities limited teens to the FDA-recommended three or fewer sessions the first week, 71 percent of facilities said teens could tan every day if they wished.

While tanning bed operators said they would require parental consent, Dr. David Fisher, director of the melanoma program at Massachusetts General Hospital, said he wondered if staff at tanning salons actually followed through on that when presented with a paying customer.

“They may be underestimating just how bad this really is,” Fisher said. “The concern I have is that in real life, a 15-year-old, fair-skinned girl is not going say ‘Hello, I’m fair-skinned. Do you require my parent’s permission? They may say, ‘Hi, can I get a tan? I’m 19.’”

In July, the World Health Organization’s International Agency for Research on Cancer put tanning beds in its highest cancer risk category — “carcinogenic to humans.” The international panel also called for tougher warnings and restrictions on tanning bed use.

“We probably know more about the identity of the culprit in melanoma than any other cancer in the world,” Fisher said. “We should have the steepest decline of any cancer, and in fact we have the steepest increase of any cancer. It’s enormously embarrassing and frustrating.”

In another study in the September issue of Archives of Dermatology, researchers from University of Colorado found that tanning is associated with a proliferation of nevi, or moles and other skin discolorations, in non redheaded, very fair-skinned children.

Multiple benign or atypical nevi are a strong risk factor for the development of melanoma, the most dangerous form of skin cancer.

It is not fully known what changes occur in the body during meditation; whether they influence health; and, if so, how. Research is under way to find out more about meditation’s effects, how it works, and diseases and conditions for which it may be most helpful.

The National Center for Complementary and Alternative Medicine (NCCAM) is the federal government’s lead agency for scientific research on complementary and alternative medicine (CAM). It is 1 of the 27 institutes and centers that make up the National Institutes of Health within the U.S. Department of Health and Human Services. Some recent NCCAM-supported studies have been investigating meditation for relieving stress in caregivers for elderly patients with dementia and for relieving asthma symptoms. A study published in the April 2009 issue of Preventing Chronic Disease researched use of meditation and other complementary and alternative practices in patients suffering from arthritis.

The term meditation refers to a group of techniques which may be practiced for many reasons, such as to increase calmness and physical relaxation, to improve psychological balance, to cope with illness, or to enhance overall wellness. Most types of meditation have four elements in common:

A quiet location. Meditation is usually practiced in a quiet place with as few distractions as possible. This can be particularly helpful for beginners.

A specific, comfortable posture. Depending on the type being practiced, meditation can be done while sitting, lying down, standing, walking, or in other positions.

A focus of attention. Focusing one’s attention is usually a part of meditation. For example, the meditator may focus on a mantra (a specially chosen word or set of words), an object, or the sensations of the breath.

An open attitude. Having an open attitude during meditation means letting distractions come and go naturally without judging them.

Money management difficulties may be a sign that people with mild memory problems will soon develop Alzheimer’s disease, a new study suggests.

It included 87 older people with mild cognitive impairment, and 76 others with no memory problems. All the participants took a money management test at the start of the study and again one year later. The test included buying groceries, counting coins, understanding and using a checkbook and bank statement, preparing bills for mailing, and identifying fraud situations.

After one year, 25 of the 87 people with mild cognitive impairment (MCI) had developed Alzheimer’s. Those people scored lower on the initial test than participants without memory problems and those with MCI who didn’t develop dementia, and their money management skills continued to decline over the following year.

The study appears in the Sept. 22 issue of Neurology.

“Our findings show that declining money management skills are detectable in patients with MCI in the year prior to developing Alzheimer’s disease,” senior study author Daniel Marson, of the neurology department and the Alzheimer’s Disease Research Center at the University of Alabama at Birmingham, said in a news release from the journal’s publisher.

“Doctors should proactively monitor people with MCI for declining financial skills and advise them and their caregivers about steps they can take to watch for signs of poor money management,” Marson said.

“Caregivers should consider overseeing a person’s checking transactions, contacting the person’s bank to find money issues, such as bills being paid twice, or become co-signers on the checking account so that both signatures are required for checks written above a certain amount. Online banking and bill payment services are also good options,” he added.

The Substance Abuse and Mental Health Services Administration (SAMHSA) is alerting medical professionals, substance abuse treatment centers and other public health authorities about the risk that substantial levels of cocaine may be adulterated with levamisole – a veterinary anti-parasitic drug. There have been approximately 20 confirmed or probable cases of agranulocytosis (a serious, sometimes fatal blood disorder), including two deaths, associated with cocaine adulterated with levamisole. The number of reported cases is expected to increase as information about cocaine adulterated with levamisole is disseminated.

“SAMHSA and other public health authorities are working together to inform everyone of this serious potential public health risk and what measures are being taken to address it,” said SAMHSA Acting Administrator Eric Broderick, D.D.S., MPH.

Levamisole is used in veterinary medicine and is currently approved for use in cattle, sheep and swine as an anti-parasitic agent. Although it was once used in human medicine in the past for treating autoimmune diseases and cancer, it is no longer an approved drug for human use.

Ingesting cocaine mixed with levamisole can seriously reduce a person’s white blood cells, suppressing immune function and the body’s ability to fight off even minor infections. People who snort, smoke, or inject crack or powder cocaine contaminated by levamisole can experience overwhelming, rapidly-developing, life threatening infections. Other serious side effects can also occur.

According to the Drug Enforcement Administration and State testing laboratories, the percentage of cocaine specimens containing levamisole has increased steadily since 2002, with levamisole now found in over 70 percent of the illicit cocaine analyzed in July. In addition, a recent analysis in Seattle, Washington found that almost 80 percent of the individuals who test positive for cocaine also test positive for levamisole.

According to the SAMHSA alert substance abuse treatment providers, clinicians, outreach workers, and individuals who abuse cocaine need to be aware of the following:

A dangerous substance, levamisole, is showing up with increasing frequency in illicit cocaine powder and crack cocaine. Levamisole can severely reduce the number of white blood cells, a problem called agranulocytosis. THIS IS A VERY SERIOUS ILLNESS THAT NEEDS TO BE TREATED AT A HOSPITAL. If you use cocaine, watch out for:

* high fever, chills, or weakness
* swollen glands
* painful sores (mouth, anal)
* any infection that won’t go away or gets worse very fast, including sore throat or mouth sores -skin infections, abscesses -thrush (white coating of the mouth, tongue, or throat) -pneumonia (fever, cough, shortness of breath).”

SAMHSA is working with the U.S. Centers for Disease Control and Prevention (CDC), the Drug Enforcement Administration, the Food and Drug Administration, the Office of National Drug Control Policy, and other federal and international organizations, as well as state agencies to monitor the levamisole issue. CDC will be publishing a case report analysis in the Morbidity and Mortality Weekly Report (MMWR) and will be working with state health departments to systematically collect information on cocaine-associated agranulocytosis cases. Information from this effort will be used to guide treatment and prevention initiatives to address this public health concern.

Individuals are encouraged to report suspected and confirmed cases of agranulocytosis that are associated with cocaine abuse to their respective state health departments. Cases can also be reported to local Poison Control Centers (1-800-222-1222), these centers may also provide assistance in clinical management and additional reporting.

The need to burp and pass gas is normal. But some people feel like they’re frequently bloated and gassy.

The U.S. National Digestive Diseases Information Clearinghouse offers these suggestions to help reduce uncomfortable gas:
Cut down on foods known to cause gas, such as beans, dairy products, bran and whole wheat foods.
Limit gas-causing vegetables such as onions, broccoli, cabbage and brussels sprouts, and fruits such as peaches, apples and pears.
Avoid sugary fruit drinks and carbonated soft drinks. Instead, drink water.
Avoid swallowing excessive air by eating slowly and chewing thoroughly.
Keep a diary of foods that cause gas for you, and try to avoid them.

Swimming is terrific exercise and a great source of summer fun, but it’s not without its risks.

The American Academy of Orthopaedic Surgeons offers these recommendations to prevent swimming injuries:
Before jumping or diving in the water, warm up with some stretches, walking, running, biking or even some jumping jacks for a few minutes.
To prevent repetitive motion injuries of the shoulder, start an exercise program designed to strengthen shoulder and upper back muscles.
Take swimming lessons. And never swim alone.
Avoid swimming when you’re overheated, too cold or just too tired.
Don’t swim strenuously if you’re sick with a fever, an upper respiratory infection or an ear infection.
If diving, make sure the water is safe and deep enough.
Carefully clean and dry ears after swimming to prevent swimmer’s ear infection.

People who undergo screening colonoscopy in the morning rather than afternoon may be more likely to have potentially cancerous growths detected, a new study suggests.

Researchers at the Cleveland Clinic in Ohio found that among more than 3,600 colonoscopies performed at their center, the rate of polyp detection was higher with tests done in the morning.

The United States Preventive Services Task Force recommends colonoscopy every ten years starting at the age of 50, as a screening test for colon cancer. Polyps are benign growths, but because they have the potential to become cancerous, they are usually removed if they are caught during screening colonoscopy.

Polyps were found in 29 percent of patients who had a colonoscopy in the morning, versus 25 percent of those who were screened in the afternoon. There was also evidence that detection rates dipped as the day wore on, according to findings published the American Journal of Gastroenterology.

It is not clear why morning-time screenings had a higher detection rate in this study, according to the researchers, led by Dr. Madhusudhan R. Sanaka. They speculate, though, that doctor fatigue could be a factor.

In some cases, physicians performing the screenings “might have been less attentive or less vigilant in the afternoons compared with the mornings,” the researchers write.

That, however, is just a theory, notes Dr. Joseph Vicari, in an editorial published with the study. “No data exist in this study to support that conclusion,” writes Vicari, of Rockford Gastroenterology Associates in Illinois.

He also points out that the morning group of patients had a higher number of men, an older average age and a greater proportion of patients with a history of polyps than the afternoon group.

All three factors, Vicari writes, could have “skewed the data” toward a higher detection rate in the morning.

Sanaka’s team agrees that no definitive conclusions can yet be drawn. “The reasons and implications of this finding should be studied further,” the researchers write.

If physician fatigue is found to be a factor, Vicari notes, then changes in how colonoscopies are scheduled — fewer in the afternoon or fewer throughout the day, for example — might improve polyp detection rates.