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October 15, 2006, 6:27 PM CT

Potential New Treatments For Birth Defects

Potential New Treatments For Birth Defects
May be after a while those babies need not be born with cleft lip and palate. New research is paving way for therapy of these birth defects while they are still in womb.

University of Manchester scientists have uncovered the causes behind two genetic conditions that lead to facial anomalies including clefts, where the lip and often the roof of the mouth, or palate, fail to form properly.

Working with colleagues at the University of Iowa, Manchester husband and wife team Mike and Jill Dixon together with researcher Rebecca Richardson, have identified the role of a gene called IRF6.

"We had previously shown that a mutation in the IRF6 gene causes Van der Woude syndrome a rare inherited form of cleft lip and palate," said Professor Mike Dixon, a dentist based in the Faculty of Life Sciences.

"It has also been observed that defects in this gene are responsible for a significant number of other cleft lip and palate disorders that are not correlation to any particular syndrome".

The team established that mice missing the gene developed abnormal skin as well as cleft palate. Further analysis revealed that IRF6 controls the development of keratinocytes the main type of cells in the outer layers of the skin, known as the epidermis.

"Put simply, mutations of IRF6 in Van de Woude syndrome make the skin cells too sticky, so they stick to each other and other types of cell much sooner than they should resulting in these facial anomalies," said Professor Dixon.........

Posted by: JoAnn      Permalink         Source


October 15, 2006, 6:20 PM CT

Commonplace Sugar Controls Seizures

Commonplace Sugar Controls Seizures
This sugar has been in clinical use for decades, but now it is finding new uses, a potential cure for epilepsy.

2-deoxy-glucose, or 2DG, has long been used in radio labeling, medical scanning and cancer imaging studies in humans. But now, scientists at the University of Wisconsin-Madison have found the substance also blocks the onset of epileptic seizures in laboratory rats.

Published in the journal Nature Neuroscience, the findings have potentially huge implications for up to half of all epileptic patients who currently have no access to therapy, says senior author Avtar Roopra, a UW-Madison assistant professor of neurology.

"We pumped the rats full [of 2DG] and still saw no side effects," says Roopra, who estimates that the compound may be available for human use within five years. "I see 2DG as an epilepsy management therapy much like insulin is used to treat diabetes."

"All the available epilepsy therapys have focused on suppressing seizures," says co-author and renowned epilepsy expert Tom Sutula, a UW-Madison professor of neurology. "There has been hope that [new drugs] will not only suppress seizures, but modify their consequences. [2DG] appears to be a novel therapy that offers great promise to achieve that vision."

About 1 percent of the world's population suffers from epilepsy, a neurological condition that makes people susceptible to seizures. Researchers think that seizures, of which there are a number of kinds, occur due to sudden changes in how brain cells send electrical signals to each other. In about 30 to 50 percent of epilepsy patients, available therapys - including the removal of parts of the brain's temporal lobe - are largely ineffective.........

Posted by: Daniel      Permalink         Source


October 13, 2006, 4:53 AM CT

Studying Pediatric AIDS Vaccine

Studying Pediatric AIDS Vaccine
Researchers at Makerere University, in Kampala, Uganda, along with researchers from Johns Hopkins and other institutions worldwide, have begun the first clinical safety trial in Africa of a vaccine to prevent mother-to-child transmission of HIV through breastfeeding. Breast milk is a leading route of infection in the developing world, as per the United Nations World Health Organization, which estimates that each day 1,800 newborns are infected with the AIDS virus, 30 percent to 40 percent by virus carried in their mother's milk.

Enrollment of the first newborn took place at Mulago Hospital in Kampala. The so-called phase I study is designed to test the safety of injecting newborns with the vaccine, formally known as ALVAC-HIV (vCP1521). If the vaccine is found to be safe in this study, and if it is later shown to be effective in reducing the chance of infants' becoming infected during breastfeeding, scientists estimate that it could potentially stop up to 8,000 of Uganda's 22,000 infections a year in children. Initial results are expected by mid-2007.

"A vaccine is the easiest way to help prevent mother-to-child transmission of the disease, as healthy alternatives to breastfeeding, such as infant formula, are not available or affordable to most new mothers in the developing world, a number of of whom do not know they are HIV positive," says study protocol chair and pediatric infectious disease specialist Laura Guay, M.D., who will lead Hopkins' efforts.........

Posted by: Mark      Permalink         Source


October 12, 2006, 10:22 PM CT

Stroke rates falling in the West

Stroke rates falling in the West
The occurence rate of stroke in Perth, Western Australia has declined 43% over the last decade, as per new research announced recently by The George Institute for International Health at the Annual Scientific Meeting of the Stroke Society of Australasia held in Adelaide.

Stroke affects around 17 million people globally and is widely recognised as one of the biggest killers in Australia. Nationally, over 53,000 strokes occur each year, of which one third will die in the first 12 months. Without prevention, the annual rate of strokes in Australia has been predicted to rise to 74,000 by 2017 due to the ageing of the population.

The pivotal eleven-year Perth Community Stroke Study, conducted from 1989 to 2001, focused on the trends of strokes in both men and women, and the frequency of risk factors that play a key role in the occurence rate of stroke. The project involved collaboration between leading stroke research centres, The George Institute, Royal Perth Hospital, the University of Western Australia and The University of Queensland.

"The study observed that despite the population in inner-metropolitan Perth increasing over the eleven-year study period, the number of strokes declined significantly," said Professor Craig Anderson, Director of Neurological Disease and Mental Health at The George Institute.........

Posted by: Daniel      Permalink         Source


October 12, 2006, 10:20 PM CT

Down Syndrome: Not Just The Age Factor

Down Syndrome: Not Just The Age Factor
Whether or not a pregnant woman will give birth to a child with Down Syndrome is not simply a matter of how old she is. Eventhough it is a fact that as women get older, they are more likely to have a child with Down Syndrome, other factors also play a role. As per Markus Neuhäuser and Sven Krackow, from the Institute of Medical Informatics, Biometry and Epidemiology at University Hospital Essen, in Gera number of, the risk of a child being born with Down Syndrome is also dependent on how a number of existing siblings the child has and how big the gap is between the child and his immediate preceding sibling. The research is published in Springer's journal Naturwissenschaften this week.

Neuhäuser and Krackow evaluated and analysed data from 1953 and 1972 (before abortion was widespread). They observed that other factors, besides the mother's increasing age, were associated with the number of Down Syndrome cases. Down Syndrome rates were significantly higher in older mothers in their first pregnancy than in older mothers who had already had children. Only late first pregnancies were more likely to produce a Down Syndrome baby, not late second or third pregnancies. In addition, the larger the gap between pregnancies, the higher the rates of Down Syndrome.

Down Syndrome is the result of the genetic abnormality trisomy 21. Trisomy has been the focus of extensive medical research but the exact mechanism is not yet understood. One feature common to most trisomies is an increase in frequency of trisomic pregnancies with increasing maternal age. There is good evidence for uterine selection against genetically disadvantaged embryos. However, as women approach the menopause and the risk of future infertility increases, this selection, or filtering stringency, is expected to relax.........

Posted by: Emily      Permalink         Source


October 12, 2006, 10:15 PM CT

Leading Reason For Corneal Transplants

Leading Reason For Corneal Transplants
Guided by families with an unusual number of cases, researchers at Johns Hopkins have discovered the genetic origins of at least one form of Fuchs corneal dystrophy, FCD, the leading reason for corneal transplantation in the United States.

In one form or another, FCD's trademark deterioration of the cells covering the clear, outermost lens of the eye affects more than 4 percent of the population over 40. Late in life, the dystrophy causes swelling of the cornea and can severely affect vision, making it impossible to see well even with glasses or contact lenses. It's believed that various forms of FCD are due to multiple gene mutations.

In a report in the recent issue of Investigative Ophthalmology, a team led by Hopkins ophthalmologist John Gottsch, M.D., says they were able to map a common form of Fuchs, found most often in women, to chromosome 18.

"Finding this chromosomal locus is putting us in the right neighborhood to find culprit genes," says Gottsch. "Now we have to start knocking on every door".

Gottsch is heartened by success with earlier Fuchs gene-hunting studies. The Hopkins group tracked down its first FCD-related gene in a Virginia family with multiple, early onset cases. That gene, labeled COL8A2, was mapped to chromosome 1.........

Posted by: Mike      Permalink         Source


October 12, 2006, 10:11 PM CT

Algae Provide Clues To Cancer

Algae Provide Clues To Cancer Chlamydomonas reinhardtii
A microscopic green alga helped researchers at the Salk Institute for Biological Studies identify a novel function for the retinoblastoma protein (RB), which is known for its role as a tumor suppressor in mammalian cells. By coupling cell size with cell division, RB ensures that cells stay within an optimal size range.

Their findings, which would be reported in the October 13 online edition of PLoS Genetics, show that RB blocks cells from dividing before they reach a minimum size and could provide new insights into the origins of cancer.

"Being the right size is very important for cells because their physiology changes quite dramatically when the surface-to-volume ratio changes," explains senior author James Umen, Ph.D., an assistant professor and Hearst Endowment Chair in Salk's Plant Biology Laboratory. "The human body is composed of trillions of cells, each of which must coordinate its growth and division in order to maintain size equilibrium," he adds.

This process is very tightly regulated and any given cell type will always stay within a very narrow size range, but the means by which cell size is determined remain mysterious. In proliferating cells, control mechanisms termed checkpoints are thought to prevent cells from dividing until they reach a specific size, but the nature of the checkpoints has proved difficult to dissect.........

Posted by: Janet      Permalink         Source


October 12, 2006, 10:03 PM CT

Geometry Of Breast Cell Invasion

Geometry Of Breast Cell Invasion
Apropos of National Breast Cancer Awareness month, scientists with the U.S. Department of Energy's Lawrence Berkeley National Laboratory (Berkeley Lab) have created a first-of-its-kind model for studying how breast tissue is shaped and structured during development. The model may shed new light on how the misbehavior of only a few cells can facilitate metastatic invasion because it shows that the development of breast tissue, normal or abnormal, is controlled not only by genetics but also by geometry. Though created specifically for the study of breast tissue, this model should also be applicable to the study of tissue development in other organs as well.

"Our results reveal that tissue geometry can control the morphogenesis of breasts and other organs by defining the local cellular branching microenvironment," said Bissell, a Distinguished Scientist with Berkeley Lab's Life Sciences Division, who was the principal investigator for this study. "This finding is important not only for understanding how tissue and organs get their organized shapes and patterns, but may in the future reveal mechanisms to control cancer invasion and metastasis".

In a paper reported in the October 13, 2006 issue of the journal Science, Bissell and her collaborators describe a study in which the branching of mouse epithelial tubules (hollow tubes made from epithelial cells that form the network of milk ducts in the mature female breast) in culture were subjected to control through a three-dimensional micropatterned assay. Using a special algorithm to quantify the extent of branching, the scientists observed that the geometric shape of the tubules determines where branching takes place. This may potentially affect where and how a malignancy spreads.........

Posted by: Janet      Permalink         Source


October 12, 2006, 5:10 AM CT

Potential New Drug For Multiple Sclerosis

Potential New Drug For Multiple Sclerosis
Virginia Commonwealth University scientists have identified a unique mechanism of action of a new drug that shows great promise for the therapy of multiple sclerosis.

The scientists report the unique action of FTY720, or Fingolimod, an immunosuppressant drug that was already known to affect the functioning of the immune system by preventing the egress of white blood cells from the lymph nodes into the blood. The article was pre-published as a First Edition Paper in Blood, The Journal of the American Society of Hematology, which appeared online on Sept. 28.

In this study, the research team found that FTY720 also inhibited the activity of a key enzyme called cPLA2, which is necessary for the production of inflammatory mediators, known as eicosanoids. Eicosanoids drive inflammatory disorders such as asthma and multiple sclerosis.

As per Sarah Spiegel, Ph.D., professor and chair in the VCU Department of Biochemistry, and lead author on the study, the inhibition of cPLA2 would shut down the entire inflammatory pathway, possibly without the side-effects caused by medications such as Vioxx, that have been withdrawn from the pharmaceutical market.

FTY720, a drug developed by Novartis, has shown considerable therapeutic effects in a recent small, placebo-controlled clinical trial involving patients with relapsing multiple sclerosis. The study was reported in the September 2006 issue of the New England Journal (NEJM) by an international research team. With its novel mode of action and the added benefit of an oral formulation, further clinical development of FTY720 might have a major impact on therapy of MS, said Spiegel.........

Posted by: Daniel      Permalink         Source


October 12, 2006, 4:50 AM CT

Antioxidants And Fish Oil On AMD

Antioxidants And Fish Oil On AMD
The National Institutes of Health (NIH) announces a nationwide study to see if a modified combination of vitamins, minerals, and fish oil can further slow the progression of vision loss from AMD, the leading cause of vision loss in the United States for people over age 60. This new study, called the Age-Related Eye Disease Study 2 (AREDS2), will build upon results from the earlier Age-Related Eye Disease Study (AREDS). The original study results were released five years ago today. The study observed that high-dose antioxidant vitamins and minerals (vitamins C and E, beta-carotene, zinc, and copper), taken by mouth, reduced the risk of progression to advanced AMD by 25 percent, and the risk of moderate vision loss by 19 percent.

AREDS2 will refine the findings of the original study by adding lutein and zeaxanthin (plant-derived yellow pigments that accumulate in the macula, the small area responsible for central vision near the center of the retina) and the omega-3 fatty acids DHA and EPA (derived from fish and vegetable oils) to the study formulation. The main study objective is to determine if these nutrients will decrease a person's risk of progression to advanced AMD, which often leads to vision loss. Prior findings based on observation have suggested these nutrients may protect vision.........

Posted by: Mike      Permalink         Source



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Did you know?
Studies in monkeys and women suggest that unlike traditional estrogen therapy, a diet high in the natural plant estrogens found in soy does not increase the risk of uterine cancer in postmenopausal women, according to Mark Cline, D.V.M., Ph.D., an associate professor of comparative medicine at Wake Forest University Baptist Medical Center.

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