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April 2, 2010, 7:09 AM CT

EMR and genome-driven diagnoses

EMR and genome-driven diagnoses
A newly released study reveals an exciting potential benefit of the rapidly accumulating databases of health care information, the ability to make unprecedented links between genomic data and clinical medicine. The research, published by Cell Press in the recent issue of the American Journal of Human Genetics, supports the idea that large scale DNA databanks associated with electronic medical record (EMR) systems provide a valuable platform for discovering, assessing and validating associations between genes and diseases.

"The deployment of EMRs offers the hope of improving routine care, not only by enhancing individual practitioner access to patient information but also by aggregating information for clinical research," explains senior study author Dr. Dan M. Roden from Vanderbilt University School of Medicine in Nashville Tennessee. "EMRs contain large populations with diverse diseases and have the potential to act as platforms for rapid and inexpensive creation of large inclusive patient sets".

Dr. Roden and his colleagues in informatics and in genome science were interested in examining whether large biorepositories containing DNA samples associated with EMRs might be useful for discovering and incorporating new genotype-phenotype associations. "Implementing such a vision requires that major obstacles be overcome, including technological, computational, ethical, and financial issues and determining whether genomic information will meaningfully inform clinical decision making and health care outcomes," says Dr. Roden.........

Posted by: Scott      Read more         Source


March 24, 2010, 12:12 AM CT

New guidance to improve trial reports

New guidance to improve trial reports
New guidance to improve the reporting of trial findings is published simultaneously today (24 March 2010) by the BMJ and eight other leading journals around the world.

Full and transparent reporting of trials is crucial to ensure that decisions about health care are based on the best available evidence.

The guidance, known as the Consolidated Standards of Reporting Trials (CONSORT) statement, was first published in 1996 and revised in 2001. It includes a checklist to help authors write reports of randomised controlled trials so that others can judge the reliability and validity of the results.

More than 400 journals and three leading editorial groups across the world have now given their official support to CONSORT.

The latest version, CONSORT 2010, improves the specificity and clarity of the prior checklist. Several new items will also make it easier for decision makers to judge the soundness of trial results. A separate explanatory paper, also published by the BMJ today, provides published examples of transparent reporting.

Speaking on behalf of co-authors, Douglas Altman and David Moher, and for the CONSORT Group, Kenneth Schulz, Distinguished Scientist and Vice President of Family Health International in the US emphasises that CONSORT 2010 represents an evolving guideline. He says: "In the future we will further revise the CONSORT material considering comments, criticisms, experiences, and accumulating new evidence. We invite readers to submit recommendations via the CONSORT website (www.consort-statement.org)."........

Posted by: Scott      Read more         Source


March 17, 2010, 7:46 PM CT

Deep brain stimulation reduces epileptic seizures

Deep brain stimulation reduces epileptic seizures
A recent study organized by Stanford University scientists found patients with refractory partial and secondarily generalized seizures had a reduction in seizures after deep brain stimulation. This multi-center clinical trial determined that the benefits of stimulation of the anterior nuclei of thalamus for epilepsy (SANTE) persisted and by 2 years there was a 56% reduction in seizure frequency. Full findings of this study are available early online in Epilepsia, a journal published by Wiley-Blackwell on behalf of the International League Against Epilepsy.

Typically epilepsy, a common neurological disorder, is characterized by recurrent seizures that can cause temporary loss of consciousness, convulsions, confusion or disturbances in sensations. As per the World Health Organization (WHO), epilepsy affects 50 million people worldwide. Past studies indicate that one-third of those with epilepsy do not respond adequately to antiepileptic drugs (AEDs).

"Electrical deep brain stimulation (DBS) is a promising treatment for epilepsy," said Robert Fisher, M.D., Ph.D., Director of the Epilepsy Center at Stanford University, and main author of the SANTE study. "Our goal is to find therapys that reduce the effects of epilepsy, especially for those who don't respond to AED treatment." .........

Posted by: Daniel      Read more         Source


March 8, 2010, 9:29 AM CT

Vitamin D and immune defenses

Vitamin D and immune defenses
Researchers at the University of Copenhagen have discovered that Vitamin D is crucial to activating our immune defenses and that without sufficient intake of the vitamin, the killer cells of the immune system T cells - will not be able to react to and fight off serious infections in the body.

For T cells to detect and kill foreign pathogens such as clumps of bacteria or viruses, the cells must first be 'triggered' into action and 'transform' from inactive and harmless immune cells into killer cells that are primed to seek out and destroy all traces of a foreign pathogen.

The scientists observed that the T cells rely on vitamin D in order to activate and they would remain dormant, 'nave' to the possibility of threat if vitamin D is lacking in the blood.



Chemical Reaction that Enables Activation


In order for the specialized immune cells (T cells) to protect the body from dangerous viruses or bacteria, the T cells must first be exposed to traces of the foreign pathogen. This occurs when they are presented by other immune cells in the body (known as macrophages) with suspicious 'cell fragments' or 'traces' of the pathogen. The T cells then bind to the fragment and divide and multiply into hundreds of identical cells that are all focused on the same pathogen type. The sequence of chemical changes that the T cells undergo enables them to both be 'sensitized to' and able to deliver a targeted immune response.........

Posted by: Scott      Read more         Source


February 25, 2010, 1:22 AM CT

Antibodies linked to cardiovascular disease

Antibodies linked to cardiovascular disease
A study by scientists in Australia and the United Kingdom suggests that autoantibodies to fat binding proteins significantly increase in systemic lupus erythematosus (SLE) patients with active disease. This increase in anti-apolipoprotein (anti-Apo A-I), anti-high-density lipoprotein (anti-HDL), and anti-C-reactive protein (anti-CRP) may contribute to the development of atherosclerosis in SLE patients, placing them at risk for cardiovascular disease (CVD). Complete findings of this study are available in the recent issue of Arthritis & Rheumatism, published by Wiley-Blackwell on behalf of the American College of Rheumatology.

Lupus is a chronic autoimmune disease where the immune system creates antibodies that attack an individuals' own cells, causing inflammation throughout the body. The inflammation leads to tissue and organ damage, affecting the heart, kidneys, lungs, brain, blood, skin and/or joints of those with SLE. As per a 2008 study for the National Arthritis Data Workgroup 322,000 Americans have a definite or probable SLE diagnosis. The Lupus Foundation of America's figures are much higher, with up to 1.5 million in the U.S. and close to 5 million worldwide reported having form (SLE, discoid, sub-acute cutaneous, drug-induced, or neonatal) of lupus.........

Posted by: Daniel      Read more         Source


February 17, 2010, 7:24 AM CT

Key interaction that controls telomeres

Key interaction that controls telomeres
In the dominoes that make up human cells, scientists at the University of Michigan Comprehensive Cancer Center have traced another step of the process that stops cells from becoming malignant.

It starts with the enzyme telomerase, which affects the caps, or telomeres, at the end of a chromosome. Telomeres shorten over time. But telomerase prevents this from happening, making the cell immortal. If cancer is triggered in the cell, the presence of telomerase leads to the growth of the cancer.

Telomerase is kept in control by the protein TRF1, which keeps the telomeres operating correctly. But another protein, Fbx4, can bind to TRF1 and degrade it, causing the telomeres to lengthen.

Now, scientists have discovered, a third protein, TIN2, can step in and override Fbx4 by binding to TRF1 first and preventing Fbx4 from attaching to it.

This finding paves the way for developing a drug that acts like TIN2, keeping everything in check and stopping the first domino from falling.

Results of the study appear in the Feb. 16 issue of Developmental Cell.

"In 90 percent of cancers, no matter what caused the cancer to form, it needs telomerase activity to maintain the cell. Without telomerase, the cell will die. Our work is key to understanding a detailed mechanism for how these molecules interact and how to design a drug to block Fbx4," says senior author Ming Lei, Ph.D., assistant professor of biological chemistry at the University of Michigan Medical School.........

Posted by: Janet      Read more         Source


February 8, 2010, 7:57 AM CT

Genetic variant linked to biological aging

Genetic variant linked to biological aging
Researchers announced recently (7 Feb) they have identified for the first time definitive variants linked to biological ageing in humans. The team analyzed more than 500,000 genetic variations across the entire human genome to identify the variants which are located near a gene called TERC.

The study in Nature Genetics published recently by scientists from the University of Leicester and King's College London, working with University of Groningen in the Netherlands, was funded by The Wellcome Trust and the British Heart Foundation.

British Heart Foundation Professor of Cardiology at the University of Leicester Professor Nilesh Samani, of the Department of Cardiovascular Sciences, who co-led the project explained that there are two forms of ageing chronological ageing i.e. how old you are in years and biological ageing whereby the cells of some individuals are older (or younger) than suggested by their actual age.

He said: "There is accumulating evidence that the risk of age-associated diseases including heart disease and some types of cancers are more closely correlation to biological rather than chronological age.

"What we studied are structures called telomeres which are parts of one's chromosomes. Individuals are born with telomeres of certain length and in a number of cells telomeres shorten as the cells divide and age. Telomere length is therefore considered a marker of biological ageing.........

Posted by: Janet      Read more         Source


February 3, 2010, 7:33 AM CT

Clean, biodegradable structure for stem cell growth

Clean, biodegradable structure for stem cell growth
University of Washington
The UW's biodegradable scaffold was built as a cylinder (right) which was then cut into dime-sized slices.

Medical scientists were shocked to discover that virtually all human embryonic stem cell lines being used in 2005 were contaminated. Animal byproducts used to line Petri dishes had left traces on the human cells. If those cells had been implanted in a human body they likely would have been rejected by the patient's immune system.

Even today, with new stem cell lines approved for use in medical research, there remains a risk that these cells will be contaminated in the same way. Most research labs still use animal-based "feeder layers" because it remains the cheapest and most reliable way to get stem cells to multiply.

Materials researchers at the University of Washington have now created an alternative. They built a three-dimensional scaffold out of a natural material that mimics the binding sites for stem cells, allowing the cells to reproduce on a clean, biodegradable structure. Results reported in the journal Biomaterials show that human embryonic stem cells grow and multiply readily on the structure.

"The major challenge for stem cell treatment today is it's very difficult to make a lot of them with high purity," said main author Miqin Zhang, a UW professor of materials science and engineering. "So far it seems like this material is very good for stem cell renewal."........

Posted by: Scott      Read more         Source


February 1, 2010, 8:07 AM CT

Early detection of Alzheimer's disease

Early detection of Alzheimer's disease
Investigators from the International Center for Biomedicine and the University of Chile, in collaboration with the Center for Bioinformatics of the Universidad de Talca, have discovered that two drugs, the benzimidazole derivatives lanzoprazole and astemizole, appears to be suitable for use as PET (positron emission tomography) radiotracers and enable imaging for the early detection of Alzheimer's Disease. The study is reported in the current issue of the Journal of Alzheimer's Disease

Lanzoprazole and astemizole specifically tag pathological oligomers of tau which form the core of neurofibrillary tangles (NFTs), a pathognomonic brain lesion in Alzheimers patients. Prof. Dr. R.B. Maccioni and Dr. Leonel Rojo, authors of the study commented, "Since neurofibrillary tangles are positively correlated with cognitive impairment, we propose that these drugs have great potential in PET neuroimaging for in vivo early detection of AD and in reducing the formation of NFTs. These studies, based on advanced proteomics and databases of molecular interactions, may help to find potential new drugs for early diagnosis and therapy of Alzheimers disease. The findings are the result of a long-standing research program supported by the Alzheimers Association-USA and Fondecyt, Chile to evaluate new drug candidates." Technological applications of this discovery are being developed with the collaboration of VentureL@b of the Universidad Adolfo Ibaez.........

Posted by: Daniel      Read more         Source


February 1, 2010, 8:06 AM CT

New computational tool for cancer treatment

New computational tool for cancer treatment
A number of human tumors express indoleamine 2,3-dioxygenase (IDO), an enzyme which mediates an immune-escape in several cancer types. Scientists in the Molecular Modeling group at the SIB Swiss Institute of Bioinformatics and Dr. Benot J. Van den Eynde's group at the Ludwig Institute for Cancer Research Ltd (LICR) Brussels Branch developed an approach for creating new IDO inhibitors by computer-assisted structure-based drug design. The study was presented in the January 2010 online issue of the Journal of Medicinal Chemistry

The docking algorithm EADock, used for this project, was developed by the Molecular Modeling Group over the last eight years. It provides solutions for the "lock-and-key" problem, wherein the protein active site is regarded as a "lock", which can be fitted with a "key" (commonly a small organic molecule) able to regulate its activity. Once an interesting molecule has been obtained, synthesis and laboratory experiments are necessary to confirm or reject the prediction. This algorithm will soon be made available to the scientific community worldwide.

The researchers obtained a high success rate. Fifty percent of the molecules designed in silico were active IDO inhibitors in vitro. Compounds that displayed activities in the low micromolar to nanomolar range, made them suitable for further testing in tumor cell experiments and for in vivo assessment in mice. If these studies are successful, researchers can begin evaluating these new compounds in patients undergoing cancer-immunotherapy.........

Posted by: Janet      Read more         Source



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Did you know?
Scientists at Yale have brought to light a mechanism that regulates the way an internal organelle, the Golgi apparatus, duplicates as cells prepare to divide, according to a report in Science Express.Graham Warren, professor of cell biology, and colleagues at Yale study Trypanosoma brucei, the parasite that causes Sleeping Sickness. Like a number of parasites, it is exceptionally streamlined and has only one of each internal organelle, making it ideal for studying processes of more complex organisms that have a number of copies in each cell.

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