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Promise for Duchenne muscular dystrophy? December 2009
TUCSON, AZ - A technique called exon skipping shows potential to increase muscle strength and prolong life in people with a severe form of Duchenne muscular dystrophy (DMD).
A study that included MDA-supported Stephen Wilton, at the University of Western Australia, exon skipping improves production of a crucial muscle protein that’s missing in people with DMD.
These results were observed in mice with an especially severe form of muscular dystrophy.
The study was in the journal Molecular Therapy.
"This finding bodes well for the potential of this treatment to help humans with Duchenne, which is typically more severe than the disease seen in the standard mouse model," said Sharon Hesterlee, senior vice president of MDA’s venture philanthropy program.
The findings, which show exon skipping compounds can work even in mice with rapidly-progressive DMD, add support to the substantial interest shown by biotechnology and pharmaceutical companies in developing this type of compound for treatment of children and young adults with DMD.
BETHESDA, MD - CNN tells of the 12-year-old girl who plucked cold, slimy potato peels from garbage in eastern Poland. Crumbs and decomposed food sickened Betty Potash Gold and her family, causing diarrhea and bloody vomiting, as they hid from the Nazis. Gold survived extreme hunger, mental duress, and near-death events in the Holocaust, but she and other survivors face another peril. "Jewish survivors of World War II who were potentially exposed to the Holocaust were at a higher risk for cancer later than those not exposed," asserts a study in the Journal of the National Cancer Institute. Intense calorie deprivation has long-term effects on survivors, said Dr. Micha Barchana, a study author. "We know people who (endured) the Holocaust suffered severe calorie restriction," he said. "Calories they were taking in were 200 to 800." Scientists at the University of Haifa in Israel compared the rates of more than 300,000 European Jews who immigrated before or during World War II as the control group and those who left after the war as the exposed group. Men possibly exposed to the Holocaust had up to 3.5 times greater risk than the non-exposed group. Exposed women had up to 2.33 times greater risk. IOWA CITY, IA - The Disability Law & Policy e-Newsletter of the Law, Health Policy & Disability Center at the University of Iowa College of Law and Syracuse University’s Burton Blatt Institute disclosed Bluegrass Technology Center (Lexington, KY) promotes accessibility on a wide array of assistive technologies. It can adapt virtually any object to any need, and lends AT to those considering purchase. If a customer buys the device, the center can help locate the lowest price, get funding, and troubleshoot. The center boasts a Toy Library, where parents can borrow adaptive toys free. Future center projects include refurbishing 200 computers to lend and recording up to 1,000 books for children with visual impairments. (Lexington Herald-Leader, Jan. 13, 2009) ATLANTA - ScienceDaily disclosed scientists developed a better version of an enzyme that degrades dense scar tissue formed when the central nervous system is damaged. By digesting the tissue that blocks re-growth of damaged nerves, this enzyme - and new system to deliver it - could facilitate recovery from serious central nervous system injuries. The enzyme - chrondroitinase ABC - must be supplied to the damaged area for at least two weeks after injury to degrade scar tissue fully. The enzyme works poorly at body temperature and must be injected repeatedly or infused into the body. In the Proceedings of the National Academy of Sciences, scientists describe how they eliminated the thermal sensitivity of chABC and developed a delivery system that allowed the enzyme to be active for weeks without implanted catheters and pumps. "This research (backed by the National Institutes of Health) has made digesting scar clinically viable by obviating the need for continuous injection of chABC by thermally stabilizing the enzyme and harnessing bioengineered drug delivery systems," said lead author Ravi Bellamkonda, a professor in the Dept. of Biomedical Engineering at Georgia Tech and Emory University. ALEXANDRIA, VA - Health.com reports taking a low-dose aspirin every day can help prevent heart attacks in people who’ve already had one. If you’ve never had an attack (or stroke), the risks of a daily low-dose aspirin outweigh benefits, states a study in Drug and Therapeutics Bulletin. About 50 million Americans take low-dose (325mg daily or less) aspirin to prevent cardiovascular woes. Some do so without heart disease or a history of heart attack or stroke: known as primary prevention. Today, the American Diabetes Association backs low-dose aspirin for primary prevention for diabetics at risk for cardiovascular disease. (Diabetes can raise dramatically the risk of heart disease.) "Because of some recent studies suggesting the benefit isn’t very large, and because aspirin can have risks (intestinal bleeding or hemorrhagic stroke), the January 2010 recommendations urge it mostly for higher-risk people than when it was recommended for people with more moderate levels of risk and above," says Dr. M. Sue Kirkman, ADA vice president/clinical affairs. The new analysis says there’s not enough evidence to justify routine use of low-dose aspirin to prevent cardiovascular disease in apparently healthy people, including those with elevated blood pressure or diabetes. CHICAGO - Sexual dysfunction isn’t inevitable in aging, but it’s strongly related several factors, such as mental/physical health, demographics, and lifetime experiences, many of which are interrelated, a University of Chicago study shows. Funded by the National Institutes of Health, it found a history of sexually-transmitted disease also has an impact on sexual health later in life. People who had an STD are more likely to have had sexual experiences that included more risks and multiple sex partners. "Having had an STD roughly quadruples a woman’s odds of reporting sexual pain and triples her lubrication problems," said Edward Laumann, sociology professor, and lead author of "Sexual Dysfunction Among Older Adults: Prevalence and Risk Factors from a Nationally Representative U.S. Probability Sample of Men and Women 57 to 85 Years of Age," in the Journal of Sexual Medicine. Men are more than five times as likely to report sex as non-pleasurable if they’ve had an STD. Women may be more likely than men to experience sexual dysfunction from health issues. The most common problem for men is erectile dysfunction, a problem that increases with age. HOUSTON - HealthDay News noted fitness declines which join aging typically speed up after 45, but we can slow the procesw by staying lean, exercising, and not smoking. The findings in the Archives of Internal Medicine aren’t surprising; this study has broad implications given the rising number of older U.S. adults and exploding sedentary, overweight and aging population. "The Social Security Administration actually has an aerobic capacity threshold. If you're below(that), you are considered disabled," said study author Andrew Jackson, University of Houston professor emeritus of health and human performance. This means more people could qualify for government disability benefits at a younger age, further draining a strained economy. This study group had 3,429 women and 16,889 men 20-96 who had had two to 33 health exams with lifestyle counseling 1974-2006. Cuts in cardiorespiratory fitness weren’t seen as a straight downward line. Instead, after 45, the slope became much steeper, dropping even further with gains in body-mass index, smoking, and lower levels of physical activity. WINSTON-SALEM, NC - A study by scientists at Wake Forest University Baptist Medical Center and colleagues show cognitive function slips as average blood sugar levels rise in type 2 diabetics. The study in Diabetes Care - "Memory in Diabetes" - is a sub-study of the Action to Control Cardiovascular Risk in Diabetes Trial (ACCORD). It found a statistically significant inverse relationship between A1C levels (average blood glucose levels over two to three months and subjects’ scores on four cognitive tests. No tie was found between daily blood glucose levels (measured by the fasting plasma glucose test) and test scores. Scientists at 52 of 77 ACCORD sites in the U.S. and Canada gave 30 minutes of cognitive tests to nearly 3,000 people 55 and older. "The tests measured aspects of memory function," said Dr. Jeff Williamson, principal Wake Forest site study investigator. "We tested one's ability to switch back and forth between memory tasks or to ‘multitask,’ an important skill for people needing to manage their diabetes." Results showed a 1% rise in A1C corresponded to slightly lower scores on tests of psychomotor speed, global cognitive function, memory, and multiple task management. EASTON, PA - Kissing may be an evolutionary adaptation to boost bonding and check a partner's health, scientists told COSMOS magazine. They marked changes in hormones such as oxytocin, part of emotional bonding, and cortisol, a stress hormone, after test subjects kissed partners. "There appears to be an adaptive significance of kissing," said Wendy Hill, neuroscientist at Lafayette College at an American Association for the Advancement of Science meeting. Oxytocin is a key hormone scientists study because it relates to pair bonding. At least one study found it boosts trust. A tie between a rise in oxytocin and kissing may suggest an evolutionary basis for the behavior as it relates to pair-bonding in people. "Over 90% of human societies kiss," said Helen Fisher, research anthropologist at Rutgers University in New Brunswick, NJ. "We're finding all kinds of chemical systems at play during courtship." Kissing might allow a person to assess the quality and health of a mate by sampling the chemical makeup of a mate's saliva, she added. "Men are more likely to like messy kisses," said Fisher. This could be due to the male subconsciously trying to pick up clues about the female's estrogen cycle to assess her fertility or to pass on trace amounts of testosterone to make her more receptive, she said. SEATTLE - HealthDay News disclosed about 20% of children with sensorineural hearing loss (SHL) have eye disorders, a study found. SHL, caused by damage to the inner ear or nerves that link the ear to the brain, affects up to three of every 1,000 children, notes study data. Half of all cases in children are due to genetics; one gene, GJB2, covers a large proportion of SHL in Caucasians. For the study, Dr. Arun Sharma, of the University of Washington, and his team reviewed data on 226 children with SHL. Of that group, 49 (21.7%) had eye disorders, including 23 (10.2%) with refractive errors such as nearsightedness, farsightedness and astigmatism, and 29 (12.8%) with non-refractive errors. Scientists found the cause of SHL was syndromic - it was tied to other symptoms - in 11 children (4.9%), and five (2.2%) had syndromes with related eye ills. All of the children were offered genetic testing for GJB2 mutations. Of the 144 who were screened, 27 (18.8%) had two mutated copies, and one of the 27 (3.7%) had an eye disorder. No eye problems were found in the 11 children with a single mutated copy, but there were eye problems in 22 (20.8%) of the 106 children with no mutations. RICMOND, VA - Virginia Commonwealth University scientists identified a gene with a key role in regulating liver cancer progression, which could lead to targeted therapies to fight the highly-aggressive disease. Hepatocellular carcinoma - HCC, or liver cancer - is the fifth most common cancer and third leading cause of cancer deaths globally. Treatment options include chemotherapy, chemoembolization, ablation, and proton-beam therapy. Liver transplantation offers the best chance for a cure in patients with small tumors and significant associated liver disease. In the study online at the Journal of Clinical Investigation, scientists noted the gene-1/AEG-1 plays a key role in regulating HCC in series of cellular models. By examining human liver tumor cells of patients with HCC, the team found the expression of AEG-1 rises gradually as the tumor becomes more aggressive. "AEG-1 activates multiple intracellular signaling pathways known to be involved in HCC progression," said principal investigator Dr. Devanand Sarkar, assistant professor in the Dept. of Human and Molecular Genetics at the VCU School of Medicine, and Scholar in Cancer Research at the VCU Massey Cancer Center. SEOUL, SOUTH KOREA - HealthDay News noted people with obstructive sleep apnea (OSA) have soft palates more elongated and angled than those without OSA, scientists report. The soft palate is tissue at the back of the roof of the mouth. A team at Seoul National University College of Medicine used sleep videofluoroscopy - joining X-ray images with video recording - to evaluate 53 patients with OSA and 10 "simple snorers." Among those with OSA, the length/angle of the soft palate increased while awake and when they experienced "desaturation sleep events" - 4% or more lower blood oxygen levels due to uneven breathing. These soft palate changes didn’t occur in the simple snorers. "Sleep videofluoroscopy quantitatively showed the soft palate was considerably elongated and angulated in patients with (OSA) even in an awake state," stated Dr. Chul Hee Lee and colleagues. "It’s an easy way to measure the soft palate changes and may be a useful technique to differentiate (OSA) from simple snoring with short examination time." The team said "identification of the obstruction site of upper airway in patients with (OSA) is essential in choosing the appropriate treatment, especially surgical intervention." The study was in the journal Archives of Otolaryngology - Head & Neck Surgery. SOUTH SAN FRANCISCO - The Wall Street Journal reported Genentech Inc. study challenges thinking about Alzheimer's disease with a provocative theory about its cause and suggests potential new targets for therapies. The scientists contend a normal process where excess nerve cells/nerve fibers are pruned from the brain in prenatal development is somehow reactivated in the adult brain and "hijacked" to cause death of such cells in Alzheimer's patients. The dominant view of Alzheimer's is it’s caused by deposits called beta amyloid that accumulate in the brain due to bad luck or unknown reasons, degrading and destroying nerve cells and robbing victims of memory. The new findings offer evidence "Alzheimer's isn’t just bad luck, but is the activation of a pathway that’s there for development purposes," says Marc Tessier-Lavigne, Genentech executive vice president/research drug discovery. "It suggests a different way of looking at Alzheimer's." LONDON - The Associated Press noted a study of nearly 1.3 million British women offers more evidence that moderate drinking raises the risk of several cancers. Scientists surveyed middle aged women at breast cancer screening clinics about drinking, and tracked their health for seven years; 25% noted no alcohol use. Nearly all the rest had fewer than three drinks a day; the average was one drink. Scientists compared the lightest drinkers - two or fewer drinks a week - with people who drank more. Each extra drink per day hiked the risk of breast, rectal, and liver cancer, University of Oxford scientists wrote in the Journal of the National Cancer Institute. The type of alcohol didn't matter. That supports earlier research, but the new wrinkle: Drinking was linked to esophageal and oral cancers only when smokers drank. Moderate drinkers had a lower risk of thyroid cancer, non-Hodgkin's lymphoma, and renal cell cancer. For an individual woman, the overall alcohol risk is small. |
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