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PERSONALIZED MEDICINE: STUDY FINDS HEALTH PROFESSIONALS AND PUBLIC UNPREPARED FOR GENOMIC MEDICINE
Although advances in genomic medicine for common adult chronic diseases such as heart disease, diabetes, and cancer hold promise for improved prevention, diagnosis, and treatment, health professionals and the public are not prepared to effectively integrate these new tools into practice, according to a study by researchers from the Department of Veterans Affairs and the RAND Corporation. Physicians and patients are optimistic about the health benefits that genetic testing might provide, but neither group is well informed about genetics, and there are likely too few experts available to meet growing demands for genetic testing, according to the study published in the Journal of the American Medical Association. The researchers say the findings demonstrate a need for a large-scale effort to educate both health professionals and the public about genomic medicine, and to develop and evaluate new ways to deliver genetic services.

HYPERTENSION: MEDITATION IS EFFECTIVE WAY TO TREAT HIGH BLOOD PRESSURE
Transcendental Meditation is an effective treatment for controlling high blood pressure and has the added benefit of bypassing possible side effects and hazards of anti-hypertension drugs, according to researchers at the University of Kentucky. The study, published in the American Journal of Hypertension, evaluated nine randomized, controlled trials using transcendental meditation as a primary intervention for hypertensive patients. It found the practice of transcendental meditation was associated with approximate reductions of 4.7 mm systolic blood pressure and 3.2 mm diastolic blood pressure. The researchers said that blood pressure reductions of this magnitude would be expected to be accompanied by significant reductions in risk for atherosclerotic cardiovascular disease—without drug side effects. They said it was the equivalent of adding a second antihypertension agent to one's current regimen.

 

Researchers at Rhode Island Hospital and The Warren Alpert Medical School of Brown University have discovered a gene that could hold the key to developing new treatments for Parkinson’s disease. According to the findings of the study, published online in the American Journal of Human Genetics, mutations in the gene, known as GIGYF2, appear to be directly linked to the development of Parkinson’s in people with a family history of the disease. The gene is one of only a handful linked to Parkinson’s and one of just two genes known to be a common contributor to this degenerative disease, which has no known cause or cure. Although less than a quarter of all cases of Parkinson’s are familial, researchers believe genes like GIGYF2 can provide clues to the mechanisms behind Parkinson’s and point to new treatments for the more common and sporadic forms of the disease. Their research also revealed a secondary finding––the possible association of insulin and the related hormone known as insulin-like growth factor (IGF) with Parkinson’s. This joins a small but growing body of research linking insulin and IGF to Parkinson’s disease and other neurodegenerative disorders, such as Alzheimer’s.

 

MUSCULAR DYSTROPHY: INVESTIGATIONAL ANTIVIRAL DRUG MAY HAVE POTENTIAL TO REDUCE MUSCLE CELL DAMAGE IN MD
An investigational antiviral drug currently undergoing human trials in Europe for treating Hepatitis C infections may have potential to reduce muscle cell damage in Duchenne and other forms of muscular dystrophy. A research team led by Cincinnati Children’s Hospital Medical Center reported their results using three different mouse models of MD in a letter posted online by the journal Nature Medicine. The investigational drug, Debio-025, is a known inhibitor of the protein cyclophilin D, which regulates the swelling of mitochondria in response to cellular injury. Researches decided to test the drug in mice engineered to carry MD after earlier laboratory tests showed deleting a gene that encodes cycolphilin D reduced swelling and reversed or prevented the disease’s muscle-damaging characteristics. Similar to deleting the gene encoding cyclophilin D, the researchers found that treatment with Debio-025 reduced mitochondrial swelling and necrotic manifestations in mice with muscular dystrophy. 

 

ATHEROSCLEROSIS: RESEARCHERS IDENTIFY GENES THAT REDUCE LEVELS OF BAD CHOLESTEROL

Scientists at the Swedish medical university Karolinska Institutet have identified the genes that can combat atherosclerosis by reducing the level of bad cholesterol. In a study on mice, which is presented in the open-access journal PLoS Genetics, the research group has shown that the accumulation of the plaque that causes myocardial infarction and stroke can be prevented if levels of the “bad” LDL cholesterol are reduced before atherosclerotic plaque has progressed beyond a particular point. The group has also identified a network of 37 genes that lowers levels of blood cholesterol and brings about the beneficial effect. The researchers said the discovery means that doctors can now target the actual development of dangerous plaque rather than just trying to stabilize dangerous plaque that can rupture and cause heart attack or stroke.

TUBERCULOSIS: COMPOUND CAN KILL TB BACTERIA
A new compound may point the way to preventing active tuberculosis in people infected with the latent form of the bacterium, according to researchers at Weill Cornell Medical College in New York City. A drug with such properties could also be useful in treating people who already have tuberculosis by shortening the lengthy treatment period. The findings, published in the online edition of the journal Cell Host & Microbe, also points to new ways of thinking about fighting bacterial infection. According to the World Health Organization, the lung infection kills over 1.6 million people worldwide each year. About a third of the world's population is also thought to be infected with latent or non-replicating M. tuberculosis. In about 5 to 10 percent of these individuals, the latent bacteria eventually begin to replicate, causing active disease. In their experiments, the Weill Cornell researchers focused on a bacterial enzyme called dihydrolipoamide acetyltransferase (DlaT). DlaT's main job is to help M. tuberculosis get energy from nutrients. But when the bacterium is under stress, it also uses the enzyme to defend itself against oxidative damage from human immune cells, such as macrophages. The team's work in guinea pigs revealed that DlaT is crucial to triggering active TB disease. The researchers discovered a compound from a class of chemicals known as rhodanines that inhibit D1aT.

 

POLICY: BOOK ADVOCATES APPROACH TO CONTAINING HIGH DRUG PRICES
The mounting U.S. drug price crisis can be contained and eventually reversed by separating drug discovery from drug marketing and by establishing a non-profit company to oversee funding for new medicines, according to two MIT experts on the pharmaceutical industry. In a new book, Reasonable Rx: Solving the Drug Price Crisis (Financial Times Press), Stan Finkelstein, senior research scientist in MIT's Engineering Systems Division, and Peter Temin, Elisha Gray II Professor of Economics, propose to reduce prices by changing the way innovation is financed. They propose dividing drug companies into drug discovery/development firms and drug marketing/distribution firms, just as electric utility firms were separated into generation and distribution companies in the 1990s. Following the utility model, Finkelstein and Temin propose establishing an independent, public, non-profit Drug Development Corporation, which would act as an intermediary between the two new industry segments—just as the electric grid acts as an intermediary between energy generators and distributors. The organization also would serve as a mechanism for prioritizing drugs for development.

SYPHILIS: RESURGENCE OF DISEASE IN WEALTHY NATIONS REQUIRES RETRAINING OF DOCTORS
The resurgence of syphilis in high-income countries, after low incidence for the past two decades, has left many doctors unfamiliar with the many manifestations of the disease, according to a review in The Lancet Infectious Diseases. This recent resurgence demands renewed vigilance among, and training of, doctors and healthcare professionals, the researchers from the Centers for Disease Control and Prevention, Atlanta, said in the article. In many high-income countries, successes in syphilis prevention and control were accelerated during the early- and mid-1990s, with many countries approaching or achieving elimination of endemic disease transmission. However, since the beginning of the 21st century, syphilis incidence has started to rise in high-income settings, in part driven by increases in cases among men who have sex with men, although more recent increases among heterosexuals have also been reported.

 

PERSONALIZED MEDICINE: CHOLESTEROL-ASSOCIATED GENE VARIANT CAN PREDICT CARDIOVASCULAR EVENTS
A study appearing in the New England Journal of Medicine confirms that a combination of gene variants previously associated with cholesterol levels does reflect patients’ cholesterol levels, and can signify increased risk of heart attack, stroke, or sudden cardiac death. Researchers from the Massachusetts General Hospital Cardiology Division, who led the study, said the findings are a first step towards the ability to identify individuals who might benefit from earlier use of cholesterol-lowering medications and other measures to combat elevated risk. The researchers said their data opens the possibility that a panel of gene variants will eventually be useful in preventive cardiac care. They also said it shows that the combination of multiple variants related to cholesterol contribute to the genetic risk for heart attack. It is estimated that about half the variation in high-density lipoprotein and low-density lipoprotein cholesterol levels is inherited, rather than being caused by lifestyle factors such as diet and exercise. Since the effects of individual gene variants appear slight, the research team looked at a combination of nine single-nucleotide polymorphisms, or SNPs, previously associated with cholesterol levels. Although testing for the panel of nine SNPs was not better than standard risk factors for predicting cardiac events in the overall population, among participants classified at intermediate risk by standard measures, adding the 9-SNP panel significantly improved the ability to distinguish truly elevated or reduced risk levels.

 

HEALTHCARE QUALITY: MOST REPUBLICANS THINK THE U.S. SYSTEM IS BEST, BUT DEMOCRATS DISAGREE
Americans are generally split on the issue of whether the United States has the best healthcare system in the world, and there is a significant divide along party lines, according to a survey by the Harvard School of Public Health and Harris Interactive. The study, part of their ongoing series, Debating Health: Election 2008, finds that nearly seven in 10 Republicans (68 percent) believe the U.S. healthcare system is the best in the world, compared to just three in ten (32 percent) Democrats, and four in ten (40 percent) Independents who feel the same way. Overall, 45 percent of respondents said they believe the United States has the best system, while 39 percent believe other countries have better systems, and 15 percent said they don’t know or refused to answer. When asked if they would be more likely to support or oppose a presidential candidate who advocates making the U.S. healthcare system more like health systems in other countries, specifically Canada, France, and Great Britain, only one in five (19 percent) Republicans say they would be more likely to support such a candidate. This compared to more than half (56 percent) of Democrats and more than a third of Independents (37 percent) who say they would be more likely to support such a candidate.

 

SLEEP APNEA: MOLECULAR BIOLOGY COULD LEAD TO NEW TREATMENTS
Researchers at the University of Pennsylvania School of Medicine have provided, for the first time, a detailed look at the molecular pathways underlying sleep apnea, which affects more than 12 million Americans, according to the National Institutes of Health. Sleep apnea is a condition characterized by temporary breathing interruptions during sleep, in which disruptions can occur dozens or even hundreds of times a night. The researchers found that in an animal model of sleep apnea, poorly folded proteins accumulate in one compartment of a muscle nerve cell, which, under certain conditions, tells a cell to heal itself or destroy itself. The study, published in the Journal of Neuroscience, used a mouse model of sleep apnea. It showed that motor neurons of the jaw and face had swollen endoplasmic reticula, the part of the cell where proteins get folded properly. They surmised that misfolded proteins accumulated as the endoplasmic reticula of mice were exposed to decreased oxygen and oxygen fluctuations during sleep over eight weeks. The involvement of the endoplasmic reticula has never been shown before in explaining the physiology of sleep apnea on a cellular level.

 

Researchers from Boston University School of Medicine have estimated that one in six women are at risk for developing Alzheimer’s disease in their lifetime, while the risk for men is one in ten, according to the Alzheimer’s Association’s just published 2008 Alzheimer’s Disease: Facts and Figures. The researchers followed 2,794 participants of the Framingham Heart Study for 29 years who were without dementia. They found 400 cases of dementia of all types and 292 cases of AD. According to the researchers, the greater lifetime expectancy for women translates into a greater lifetime risk of several diseases.

 

Researchers at the University of Missouri has found direct evidence to support the claim of the Centers for Disease Control and Prevention that a reduction in daily physical activity is an actual cause of many of the risk factors for chronic diseases, including diabetes and cardiovascular disease. The research team also found that it takes only about two weeks of reduced activity for individuals to start noticing the effects. The study, published in the Journal of the American Medical Association, asked participants to curtail their physical activity. The researchers, along with colleagues at the University of Copenhagen, found after two weeks of no exercise and very little activity, participants had much higher levels of glucose and fat and took a much longer time to clear the substances from their blood streams than before. The longer it takes the body to clear the blood stream of the substances, the higher the likelihood that a person will develop diabetes or other chronic diseases, the researchers said.

RHEUMATOID ARTHRITIS: VEGAN DIET ASSOCIATED WITH ANTI-INFLAMMATORY RESPONSE
Rheumatoid arthritis patients who eat a gluten-free vegan diet could be better protected against heart attacks and stroke. Cardiovascular disease is a major risk for people with rheumatoid arthritis. Researchers at Karolinska University Hospital in Stockholm report a gluten-free vegan diet was shown to lower cholesterol, low-density lipoprotein, and oxidized LDL, as well as raising the levels of natural antibodies against the damaging compounds in the body that cause symptoms of the chronic inflammatory disease rheumatoid arthritis, such as phosphorylcholine. The findings, reported in the open-access journal Arthritis Research & Therapy, show that diet could be used to improve the long-term health of people with rheumatoid arthritis.

CARDIOVASCULAR DISEASE: HISPANICS WITH CLOGGED ARTERIES AT GREATEST RISK OF HEART ATTACK AND STROKE
Hispanics who have even a small amount of plaque build-up in the neck artery that supplies blood to the brain are up to four times more likely to suffer or die from a stroke or heart attack than Hispanics who do not have plaque, according to a study published in the online edition of Neurology. For the study, researchers at the University of Miami in Florida used ultrasound to determine the thickness of the plaque in the carotid artery of 2,189 men and women who were part of the multi-ethnic Northern Manhattan Study. Carotid plaque was found in 58 percent of the group. The maximum carotid plaque thickness was defined as those who had more than 1.9 mm of plaque thickness, which represented one quarter of the group. After an average follow-up of seven years, 121 people suffered or died from ischemic stroke, 118 suffered or died from heart attack, and 166 died of other vascular causes. The study found Hispanics with the thickest amounts of plaque had a three-to-four-fold increased risk of vascular events, such as stroke or heart attack, compared to Hispanics who did not have plaques.

 

ASTHMA: MEDICINE OFTEN NOT PRESCRIBED PER NATIONAL GUIDELINES
More than a decade after national guidelines were issued for asthma treatment, some patients still don’t receive prescriptions for the inhalers that experts say offer the safest and most effective long-term control of the disease, Ohio State Researchers found. The guidelines, issued by the National Heart, Lung and Blood Institute in 1997, recommend using long-term controller medications for patients with persistent asthma and short-term reliever medications for acute symptoms only. The study, published in the current issue of the journal Annals of Allergy, Asthma and Immunology, found physicians’ adherence to expert recommendations improved between 1998 and 2002 overall. But the study showed the use of the medications that are considered most effective in controlling the condition began to decline after 2003, leading researchers to suspect doctors might be too cautious in their prescribing practices. Treatment disparities based on age and race were also evident. The elderly and minorities tended to be less likely to be prescribed the long-acting controller medications called for in the guidelines.

ALLERGIES: SURVEY FINDS MOOD AND SELF-PERCEPTIONS ARE AFFECTED TOO
A new Harris Interactive phone survey conducted among 1,000 allergy sufferers, 1,000 consumers (both allergy sufferers and non-sufferers), and 300 physicians shows that beyond the sneezing, sniffling, and watery eyes, allergies also have deep and emotional impacts on a sufferer's mood and self-perceptions. The survey found that 62 percent of allergy sufferers say their allergies affect their mood. A total of 51 percent of sufferers feel annoyed, 48 percent feel irritable, and 42 percent feel frustrated. Additionally, 22 percent say their allergies make them feel less attractive and 19 percent feel self-conscious. While the survey of consumers found that 78 percent feel sorry for people who have allergies, many consumers believe that allergy sufferers overstate the severity of their symptoms (36 percent) and use them as an excuse to get out of something (30 percent).

ECG: STANDARDS SHOULD BE REVISED FOR ELDERLY

Researchers at Mayo Clinic suggest that the established normal ranges for evaluating electrocardiograms for persons over 80 years old should be revisited. The recommendation comes in a study published in the American Journal of Geriatric Cardiology. After analyzing readings from more than 700 patients 80 or older, the researchers discovered that the average cutoffs (beginning and end points) for measuring all three ECG intervals—PR, QRS, and QT—were greater than the current established norms. The findings also showed that the intervals, while greater in general, were significantly higher in men. The intervals refer to the times between recorded peaks of the specific motions in a heartbeat as represented on an ECG. America’s “boomer” generation is quickly aging into a geriatric generation. In 1994 one person in eight was elderly; by 2030, that figure will be one in five. As these individuals age, the researchers said physicians need to have appropriate standards to evaluate their cardiac health, whether they have a routine checkup or appear in an emergency department. 

EYE DISEASE: BLOOD VESSEL PROTEIN REVERSES MACULAR DEGENERATION, DIABETIC RETINOPATHY IN MICE

Two major eye diseases and leading causes of blindness—age-related macular degeneration and diabetic retinopathy—can be reversed or even prevented by drugs that activate a protein found in blood vessel cells, researchers at the University of Utah School of Medicine and several other institutions report. In a study published in Nature Medicine online, the researchers found that damage from both diseases was prevented and even reversed when the protein, Robo4, was activated in mice models that simulate age-related macular degeneration and diabetic retinopathy. Robo4 treated and prevented the diseases by inhibiting abnormal blood vessel growth and by stabilizing blood vessels to prevent leakage. Abnormal blood vessel growth and leakage are two primary factors in both age-related macular degeneration and diabetic retinopathy. The researchers said the study’s ramifications go beyond eye diseases. Serious infections such as SARS, for example, kill people when an infection destabilizes blood vessels, allowing fluids to leak into the lungs. Tumors hijack blood vessel growth to feed on nutrients and grow. Although this study did not prove Robo4 would treat those diseases, the researchers said it merits investigation.