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Scientific News 2012

Large-Scale Genomic Testing Feasible, Impacts Therapy

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November 15, 2012 - Science Daily

Targeted cancer therapy has been transforming the care of patients with non-small-cell lung cancer (NSCLC). It is now standard practice for tumor specimens from NSCLC patients to be examined for EGFR mutations and ALK rearrangements to identify patients for therapy with EGFR and ALK inhibitors, respectively. Now, researchers say large-scale genomic testing is feasible within the clinical workflow, impacting therapeutic decisions.

Vitamin D Deficiency Linked to Type 1 Diabetes

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November 15, 2012 - ScienceDaily

A study led by researchers from the University of California, San Diego School of Medicine has found a correlation between vitamin D3 serum levels and subsequent incidence of Type 1 diabetes. The six-year study of blood levels of nearly 2,000 individuals suggests a preventive role for vitamin D3 in this disease. The research appears the December issue of Diabetologia, a publication of the European Association for the Study of Diabetes (EASD).

Man Takes Pregnancy Test as Joke, Finds Testicular Tumor

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November 13, 2012 - ABC

A Reddit post about a man's positive pregnancy test appears to have alerted him to a testicular tumor.

The man, whose name has not been made public, was shocked to see two pink lines after jokingly taking the test, which had been left in his bathroom cabinet by an ex-girlfriend.

The strange scene was drawn out as a comic and submitted to the website Reddit, where it drew more than 1,300 comments in three days from concerned strangers.

"You may have testicular cancer! Get to an oncologist, tell them you took a pregnancy test and it came out positive," one Redditor wrote.

Sure enough, a trip to the doctor revealed a tiny lump in the man's right testicle, according to the Reddit thread.

Pregnancy tests detect beta human chorionic gonadotropin, a hormone in the blood and the urine produced by the developing placenta. Experts say beta hCG can also signal testicular cancer.

System combining nanotechnology and NMR detects particles shed by brain tumors in bloodstream

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November 11, 2012 - Nanowerk

A novel miniature diagnostic platform using nuclear magnetic resonance (NMR) technology is capable of detecting minuscule cell particles known as microvesicles in a drop of blood. Microvesicles shed by cancer cells are even more numerous than those released by normal cells, so detecting them could prove a simple means for diagnosing cancer. In a study published in Nature Medicine, investigators at the Massachusetts General Hospital (MGH) Center for Systems Biology (CSB) demonstrate that microvesicles shed by brain cancer cells can be reliably detected in human blood through a combination of nanotechnology and their new NMR-based device.

Humans Are Slowly but Surely Losing Intellectual and Emotional Abilities, Article Suggests

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November 12, 2012 - Science Daily

Human intelligence and behavior require optimal functioning of a large number of genes, which requires enormous evolutionary pressures to maintain. A provocative hypothesis published in a recent set of Science and Society pieces published in the Cell Press journal Trends in Genetics suggests that we are losing our intellectual and emotional capabilities because the intricate web of genes endowing us with our brain power is particularly susceptible to mutations and that these mutations are not being selected against in our modern society.

Vitamin D Could Hold Vital Key to Arresting Development of Alzheimer’s Disease

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November 8, 2012 - Science Daily

Scientists at London's Kingston University have uncovered evidence that lack of a particular form of vitamin D is associated with Alzheimer's disease.

Working in collaboration with researchers from Brighton and Sussex Medical School and the Sussex Partnership NHS Foundation, the Kingston researchers spent six months analysing blood samples from patients with Alzheimer's. They compared test results from those not being treated with any drugs to those from people on medication and a further group who did not have the condition.

NIH Grants New England Biolabs $640K for Epigenetic Tools Development

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November 8, 2012 - GenomeWeb

New England Biolabs announced Thursday that it has received a $640,000 Phase II Small Business Innovation grant from the National Institutes of Health to expand its research into development of enzymatic tools for epigenetic analysis.

Novel Biosensor Technology for Flu Diagnosis Receives UK Funding

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November 5, 2012 - IVD Technology

Biosensor company OJ-Bio, based in Newcastle, UK, has secured funds from the Biomedical Catalyst program toward its £1 million-plus project to develop a flu diagnostics device. The technology combines biosensor materials with advanced electronics in a small handheld device for the accurate detection of flu and other respiratory conditions from patient-supplied samples. The low-cost point-of-care device delivers results in minutes. It has been shown to detect influenza A and B viruses and respiratory synctyial virus (RSV) more quickly than current devices, according to a press release issued by the company.

DNA Sequencing of Infants and Children With Anatomical Defects of Unknown Causes

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November 6, 2012 - Science Daily

A presentation at the American Society of Human Genetics 2012 meeting updated genetics experts about a one-year-old research initiative that brought together researchers, clinicians and policy experts to tackle the challenges of incorporating new genomic technologies into clinical care of newborns, infants and children with anatomical defects whose causes are unknown.

Among the challenges is interpreting how variations in patients' DNA cause or contribute to their medical problems, said Duke University Assistant Professor of Pediatrics Erica E. Davis, Ph.D., who presented the update and is based in the Center for Human Disease Modeling in the university's medical center.

One test may 'find many cancers'

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November 6, 2012 - BBC

Targeting just one chemical inside cancerous cells could one day lead to a single test for a broad range of cancers, researchers say.

The same system could then be used to deliver precision radiotherapy.

Scientists told the National Cancer Research Institute conference they had been able to find breast cancer in mice weeks before a lump had been detected.

Scientists Learn How To Unlock The Destiny Of A Cell

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November 4, 2012 - medicalnewstoday

Scientists have discovered that breaking a biological signaling system in an embryo allows them to change the destiny of a cell. The findings could lead to new ways of making replacement organs.

The discovery was made in the laboratory of Joel H. Rothman, a professor in the Department of Molecular, Cellular, and Developmental Biology at UC Santa Barbara. The studies were reported in the interdisciplinary journal Genes and Development, and were carried out by Ph.D student Nareg Djabrayan, in collaboration with Rothman and two other members of the laboratory, Ph.D student Erica Sommermann and postdoctoral fellow Nathaniel Dudley.

Biomarker Of Tamoxifen Resistance In Breast Cancer Identified

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November 1, 2012 - medicalnewstoday

New research led by the University of Manchester in the UK has found a biomarker or molecular "flag" in women with breast cancer who do not respond, or who have become resistant, to treatment with the hormone drug tamoxifen. The researchers say their discovery will help doctors predict which breast cancer patients are likely to respond best to complementary (adjuvant) hormone therapy with tamoxifen.

Senior author Göran Landberg, a professor at the University of Manchester who works at their Paterson Institute for Cancer Research and other research units in the area, and colleagues, write about their findings in a September 2012 issue of PLoS ONE.

Global Genome Effort Seeks Genetic Roots of Disease

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October 31, 2012 - ScienceDaily

By decoding the genomes of more than 1,000 people whose homelands stretch from Africa and Asia to Europe and the Americas, scientists have compiled the largest and most detailed catalog yet of human genetic variation. The massive resource will help medical researchers find the genetic roots of rare and common diseases in populations worldwide.

The 1000 Genomes Project involved some 200 scientists at Washington University School of Medicine in St. Louis and other institutions. Results detailing the DNA variations of individuals from 14 ethnic groups are published Oct. 31 in the journal Nature. Eventually, the initiative will involve 2,500 individuals from 26 populations.

Abdominal porthole reveals how tumours come together

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October 31, 2012 - News Scientist

A window into the soul is poetic, but a window into the abdominal cavity may be more useful. A glass porthole implanted into the abdomen of mice has allowed researchers to observe the spread of cancer in intimate detail.

Tumour metastasis occurs when cancer cells spread from a primary tumour to other parts of the body, where they group together and form secondary tumours.

The migration of tumour cells is not well understood, partly because it is not easy to observe the spread of cancer inside the body. Advanced imaging techniques like multiphoton fluorescence microscopy only penetrate to a depth of half a millimetre or so – far too small to look at common sites of metastasis, including organs such as the liver.

1000 Genomes Project Team Reports on Variation Patterns from Phase I Data

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October 31, 2012 - GenomeWeb

In a study appearing online today in Nature, members of the 1000 Genomes Project Consortium presented an integrated haplotype maprepresenting the genomic variation present in more than 1,000 individuals from 14 human populations.

"This project provides the next important step towards understanding the function of the rare genetic variants we see across a wide variety of populations," study co-leader Richard Gibbs, director of Baylor College of Medicine's Human Genome Sequencing Center, said in a statement. "With this underpinning, we can go on to solve the puzzle of how this variation plays a part in human disease and health."

How and Why Herpes Viruses Reactivate to Cause Disease

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October 31, 2012 - Sciencedaily

The mere mention of the word "herpes" usually conjures negative images and stereotypes, but most people have been infected with some form of the virus. For most, a sore appears, heals and is forgotten, although the virus remains latent just waiting for the right circumstances to come back. Now, the mystery behind what triggers the virus to become active again is closer to being solved thanks to new research published in the Journal of Leukocyte Biology's November 2012 issue.

"Because almost all people are infected by one or more herpes family viruses during their lifetime, the potential impact of these findings are significant," said Charles H. Cook, M.D., FACS, FCCM, director of surgical critical care at The Ohio State University College of Medicine in Columbus, Ohio, and a researcher involved in the work. "We hope that by understanding how these latent viral infections are controlled that we can prevent reactivation events and improve people's lives."

Using Myriad as Case Study, Paper Urges Europe to Ensure Greater Access to Genetic Test Data

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October 31, 2012 - GenomeWeb

The proprietary collections of genetic testing data amassed by US diagnostics companies effectively give them competitive advantages and can negatively impact the testing market and make it harder for doctors to interpret patient results, according to a paper published today in the online edition of the European Journal of Human Genetics.

Genetic testing companies in the US, such as Myriad Genetics, have collected proprietary information from their patients that enhances their ability to interpret test results, but they can keep others from accessing such important interpretive information, according to the paper.

Test developed to detect early-stage diseases with naked eye

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October 29, 2012 - Imperial College London

Scientists have developed a prototype ultra-sensitive sensor that would enable doctors to detect the early stages of diseases and viruses with the naked eye, according to research published today in the journal Nature Nanotechnology.

The team, from Imperial College London, report that their visual sensor technology is ten times more sensitive than the current gold standard methods for measuring biomarkers. These indicate the onset of diseases such as prostate cancer and infection by viruses including HIV.

Plasmonic nanosensors developed for sophisticated HIV detection test

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October 29, 2012 - nanowerk

Two researchers from the Imperial College London, United Kingdom have succeeded in developing and testing a state-of-the-art HIV detection test. The duo says the test is 10 times more sensitive than other methods used to identify this disease, and it is inexpensive. The potential to bring this innovative technique to market is strong, providing a way to diagnose HIV earlier. The findings were published in the journal Nature Materials ("Plasmonic nanosensors with inverse sensitivity by means of enzyme-guided crystal growth").

New Technique to Study How Myeloids Become White Blood Cells

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October 25, 2012 - ScienceDaily

Associate Professor of Cell and Developmental Biology Fei Wang and colleagues have created a new technique to study how myeloids, a type of blood stem cell, become the white blood cells important for immune system defense against infections and tissue damage. This tool provides an improved understanding of the molecular mechanisms at work during this myeloid differentiation process, and may improve our ability to treat myeloid diseases like leukemia.

Their findings appear in the journal Blood.

Myeloids are blood stem cells from bone marrow or the spinal cord that are turned into common types of white blood cells like neutrophils and macrophages through the process of myeloid differentiation. Deficiencies in this differentiation process cause leukemia, or cancer of the white blood cells. Researchers in the field had previously studied myeloid differentiation using two types of cell systems. In one method of study, scientists performed experiments using primary cells, or those cells taken directly from animals. Scientists have also utilized leukemia tumor cells in this research by returning them to their previous myeloid stem cell-like states. However, primary cells are hard to grow and manipulate genetically, and tumor cells still contain the genetic mutations that caused these cells to divide uncontrollably in the first place.

Impact of Adversity On Early Life Development Demonstrated

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October 25, 2012 - ScienceDaily

It is time to put the nature versus nurture debate to rest and embrace growing evidence that it is the interaction between biology and environment in early life that influences human development, according to a series of studies recently published in a special edition of the Proceedings of the National Academy of Sciences (PNAS).

"Biologists used to think that our differences are pre-programmed in our genes, while psychologists argued that babies are born with a blank slate and their experience writes on it to shape them into the adults they become. Instead, the important question to be asking is, 'How is our experience in early life getting embedded in our biology?'" says University of Toronto behavioural geneticist Marla Sokolowski. She is co-editor of the PNAS special edition titled "Biological Embedding of Early Social Adversity: From Fruit Flies to Kindergarteners" along with professors Tom Boyce (University of British Columbia) and Gene Robinson (University of Illinois).


Biomarkers Identified for Type 2 Diabetes

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October 25, 2012 - LabMedica

Novel biomarkers have been identified for type 2 diabetes that can serve as basis for developing new methods of treatment and prevention of this metabolic disease.

Metabolites in the blood have been characterized that will provide insight into the pathological mechanisms of type 2 diabetes and in addition can be used as biomarkers to determine the disease risk.

A scientific team at the German Institute of Human Nutrition (Potsdam-Rehbruecke, Germany) and the Max Delbrueck Center for Molecular Medicine (Berlin, Germany) studied 4,000 blood samples. At the time the blood sample was taken, none of the study participants suffered from type 2 diabetes. However, during the average follow-up time of seven years, 891 participants were diagnosed with type 2 diabetes. There were 76 participants in the study who were already classified at the beginning of the study as individuals at high risk for type 2 diabetes, but at the time the blood sample was taken, they were still healthy.

Rapid and point-of-care tests accurate, convenient for hepatitis C screening

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October 24, 2012 - medwireNews

Rapid and point-of-care screening tests for hepatitis C have a high accuracy and quick turnaround time, suggest results of a systematic review and meta-analysis.

The researchers say that these tests "could play a substantial role in expanded global screening initiatives, which would eventually impact the control of hepatitis C virus (HCV) infection at the population level."

Repeating History

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October 24, 2012 - MIT Technology review

We have fully eradicated only one disease. Let's do it again.

In human history, few things happen only once. Over millennia, even statistically rare events repeat. Yet despite huge efforts to replicate the feat, just once have we eradicated a human disease: smallpox, responsible for over 500 million deaths in the 20th century alone.

We now have so much more technology than we did when smallpox was eradicated. We can solve this problem without making a billion house calls. All we need is creativity, commitment, and public will.

Algorithms Calculate a Couple's Chances of Having a Baby via IVF

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October 23, 2012 - MIT Technology Review

A California startup says its at-home test could help couples decide if the fertility treatment is worth trying.
Most fertility doctors still rely on age as the primary determinant of whether or not a woman is likely to get pregnant though in vitro fertilization (IVF). But age is only a tiny piece of the puzzle, says Mylene Yao, cofounder and CEO of Univfy, a Los Altos, California-based startup that recently began marketing a home test that ties together dozens of metrics related to health and lifestyle to predict a woman's chances of getting pregnant with IVF.

Nanofibrillar cellulose film to ease performing medical tests

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October 23, 2012 - Nanowerk

Researchers at Aalto University have succeeded in developing a durable and affordable nanofibrillar cellulose film platform to support medical testing ("Surface Functionalized Nanofibrillar Cellulose (NFC) Film as a Platform for Immunoassays and Diagnostics"; open access). New environmentally friendly, reliable nanofibrillar cellulose (NFC) platforms are more diverse than plastic films.
New film can be made, for instance, hydrophobic, hydrophilic and the electric charge can be changed. This will enhance the possibility of conducting thousands of different medical tests at home or in physicians’ receptions instead of waiting for results from laboratories.

Shock and law

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23 Octobre 2012 - Nature

The Italian system’s contempt for its scientists is made plain by the guilty verdict in L’Aquila.

“I’m not crazy. I know they can’t predict earthquakes,” the Italian public prosecutor Fabio Picuti told Nature last year. He was speaking as the manslaughter trial began in the ruined town of L’Aquila of six scientists and one government official for their alleged role in the deaths of 309 people in the quake of April 2009 (see Nature 477, 264–269; 2011). On Monday evening, the seven were found guilty and sentenced to six years in prison (see Nature http://doi.org/jkp; 2012). The verdict is perverse and the sentence ludicrous. Already some scientists have responded with warnings about the chilling effect on their ability to serve in public risk assessments.

Ready for Prenatal Sequencing?

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October 19, 2012 - GenomeWeb

Prenatal whole-genome sequencing is closer to becoming a reality, but ethicists say that its effects and consequences need to be better studied.

Within a few years, prenatal whole-genome sequencing may be a realistic option in obstetricians' offices, according to Ben Berkman, deputy director of the Bioethics Core at the National Human Genome Research Institute. Will doctors and patients be prepared to handle all of the genetic information contained in fetuses' genomes? Berkman recently told GT's Matt Jones that it is time to start gathering data on how these fetal genomes will be used in the clinic. What follows is an excerpt of their conversation.

Obama Crushing it Among Nobel Science Winners

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October 19, 2012 - GenomeWeb

US President Barack Obama may be faltering in the general polls, but not so among his fellow Nobel laureates.

In an open letter, 68 winners of the Nobel Prize in the scientific fields are throwing their support firmly behind the president — who won the Nobel Peace Prize in 2009 — saying he has "renewed our faith in science-based decision making and …championed investment in science and technology research that is the engine of our economy."

In contrast, Mitt Romney, the Republican candidate for president and former governor of Massachusetts, whom the letter never identifies by name, "supports a budget that, if implemented, would devastate a long tradition of support for public research and investment in science at a time when this country's future depends, as never before, on innovation.

"He has also taken positions that privilege ideology over clear scientific evidence on climate change," the letter adds.

Genome Hunters Go After Martian DNA

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October 18, 2012 - MIT Technology Review

J. Craig Venter may have just started a race to discover alien life on the Red Planet.
Two high-profile entrepreneurs say they want to put a DNA sequencing machine on the surface of Mars in a bid to prove the existence of extraterrestrial life.

In what could become a race for the first extraterrestrial genome, researcher J. Craig Venter said Tuesday that his Maryland academic institute and his company, Synthetic Genomics, would develop a machine capable of sequencing and beaming back DNA data from the planet.

High Levels of Estradiol, Progesterone During Pregnancy Associated With Increased Risk for HR-Negative Breast Cancer

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October 18, 2012 - Science Daily

Increased concentrations of the pregnancy hormones estradiol and progesterone were associated with an increased risk for hormone receptor-negative breast cancer diagnosed before age 50, according to the results of a nested case-control study presented at the 11th Annual AACR International Conference on Frontiers in Cancer Prevention Research, held in Anaheim, Calif., Oct. 16-19, 2012.

Annekatrin Lukanova, M.D., Ph.D., associate professor at the German Cancer Research Center in Heidelberg, Germany, and colleagues examined the effects of hormonal exposure during early pregnancy and its possible association with risk for maternal breast cancer.

"Pregnancy influences maternal risk for breast cancer, but the association is complex and the biological mechanisms underlying the associations are unknown," Lukanova said. "Understanding the mechanisms underlying the protective effect of childbearing on cancer risk can form the basis for primary prevention of breast cancer."

Blood Hormone Levels Predicted Long-Term Breast Cancer Risk for Postmenopausal Women

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October 18, 2012 - Science Daily

Blood hormone tests predicted a woman's risk for developing postmenopausal breast cancer for up to 20 years, according to data from the Nurses' Health Study presented at the 11th Annual AACR International Conference on Frontiers in Cancer Prevention Research, held in Anaheim, Calif., Oct. 16-19, 2012.

"We found that a single hormone level was associated with breast cancer risk for at least 16 to 20 years among postmenopausal women not using postmenopausal hormones," said Xuehong Zhang, M.D., an epidemiologist at Brigham and Women's Hospital and an instructor in medicine at Harvard Medical School in Boston, Mass. "We, and others, are now evaluating if the addition of hormone levels to current risk prediction models can substantially improve our ability to identify high-risk women who would benefit from enhanced screening or chemoprevention. If so, the current data suggest that hormone levels would not need to be measured in the clinic more than once every 10, or possibly 20, years."

Tying Our Fate To Molecular Markings

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October 16, 2012 - Medical News Today

A Simon Fraser University physicist has helped discover that understanding how a chemical mark on our DNA affects gene expression could be as useful to scientists as fingerprints are to police at a crime scene.

In a new study, Emberly and his colleagues cite proof that variable methylation, a chemical mark on our DNA, is predictive of age, gender, stress, cancer and early-life socioeconomic status within a population. The Proceedings of the National Academy of Sciences (PNAS) has just published the study online.

Shape of Urine Can Indicate Prostate Issues: Characteristic Shape of a Man's Urine Can Help Diagnose Urinary Problems

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October 16, 2012 - ScienceDaily

Scientists at Queen Mary, University of London have discovered that the characteristic shape of a man's urine stream could be used to help diagnose urinary problems.

The research, published Oct. 16 in PLOS ONE, is the first study to analyse the specific pattern a man's urine makes and whether it could be used to detect prostate problems.

New Rapid and Point of Care Hepatitis C Tests Could Be Global Game Changers

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October 16, 2012 - sciencedaily

Timely screening and diagnosis is critical to the success of new treatments and ultimately to the survival of hepatitis C patients. A new study led by the Research Institute of the McGill University Health Centre (RI MUHC) is the first to show that hepatitis C rapid and point of care tests with a quick turnaround time are highly accurate and reliable as conventional first-line laboratory tests.

Super-Cheap Health Tests

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October 15, 2012 - MIT technologyreview

Diagnostics for All, a nonprofit in Cambridge, Massachusetts, is making a test for liver damage that could cost just pennies. It consists, remarkably, of a stamp-size square of paper with wells that change color when a drop of blood is applied.

The test could provide an enormous benefit in poor countries, where liver damage is widespread as a side effect of drugs administered to HIV and tuberculosis patients. (As many as one-fourth of people taking antiretroviral drugs in the poor world develop liver problems—five times the rate elsewhere.) The liver function tests administered regularly in the developed world require tubes of blood, lab equipment, and electricity. The paper chip from Diagnostics for All needs none of that.

Genetics of Infections

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October 15, 2012 - genomeWeb

Even when a not very virulent flu virus goes around, some people still get sick, and some of those even die. Of those people who get sick or die, some are elderly and some have co-morbidities like obesity or being a smoker that contribute to their illness, says Amalio Telenti, a professor at the University of Lausanne in Switzerland. But some of those people who get sick or die from the not-very-virulent flu virus were healthy. "That's when you start thinking about genetics," Telenti says.

Blood Cells May Offer Telltale Clues in Cancer Diagnosis

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October 14, 2012 - dartmouth

Postdoctoral Research Fellow Devin Koestler is a biostatistician at the Geisel School of Medicine at Dartmouth. He develops and applies statistical methods to large volumes of data, seeking new approaches for understanding disease, cancer in particular. Koestler and his colleagues are investigating the potential use of white blood cell variation as a diagnostic, predictive, and research tool in the study of non-blood cancers.

His focus is the development of computational and statistical tools for investigating the process of DNA methylation.

Development of Two Tests for Rapid Diagnosis of Resistance to Antibiotics

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October 12, 2012 - sciencedaily

Two new tests capable of rapidly diagnosing resistance to wide-spectrum antibiotics have just been developed by Inserm Unit 914 "Emerging resistances to antibiotics" (Bicêtre Hospital, Le Kremlin-Bicêtre) under the direction of Professor Patrice Nordmann. Thanks to these tests, it now takes only 2 hours to identify certain bacteria that are resistant to the most used and the most important antibiotics in hospitals. The main targeted bacteria are enterobacteriacae (such as E. Coli), that are responsible for infections.

With their excellent sensitivity and specificity, the use of these extremely efficient tests on a world-wide scale would allow us to adapt antibiotic treatments to the individual's needs and to be more successful in controlling antibiotic resistance, particularly in hospitals.

High Levels of Blood-Based Protein Specific to Mesothelioma

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October 12, 2012 - sciencedaily

Researchers at NYU School of Medicine have discovered the protein product of a little-known gene may one day prove useful in identifying and monitoring the development of mesothelioma in early stages, when aggressive treatment can have an impact on the progression of disease and patient prognosis.

This gene produces a protein, fibulin-3, that is present in levels four to five times higher in the plasma of patients with mesothelioma compared to levels in asbestos-exposed patients or patients with several other conditions that cause tumors in the chest

Cell Stiffness as Biomarker for Cancer Cells

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October 10, 2012 - medgadget

Researchers at Georgia Tech have been using atomic force microscopy to measure the relative stiffness of healthy and metastatic ovarian cells. Their findings, published in PLoS One, point to the use of cell stiffness as a biomarker to differentiate healthy cells from metastatic ones, as well as those that are aggressive from those that are less so.

Healthy ovarian cells tend to be stiffer, while the more metastatic the cancerous cells get, the softer they are. The researchers believe that cells’ softness allows them to more easily push themselves into the bloodstream, spreading cancer as they squeeze through.

Nobel Prize in Chemistry goes to Biologists

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October 10th, 2012 - source: Nobel Prize

Smart receptors on cell surfaces

Your body is a fine-tuned system of interactions between billions of cells. Each cell has tiny receptors that enable it to sense its environment, so it can adapt to new situtations. Robert Lefkowitz and Brian Kobilka are awarded the 2012 Nobel Prize in Chemistry for groundbreaking discoveries that reveal the inner workings of an important family of such receptors: G-protein–coupled receptors.

The Nobel Prize in Physiology or Medicine 2012

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October 8th, 2012 - source: Nobel Prize organisation

The Nobel Prize recognizes two scientists who discovered that mature, specialised cells can be reprogrammed to become immature cells capable of developing into all tissues of the body. Their findings have revolutionised our understanding of how cells and organisms develop.

John B. Gurdon discovered in 1962 that the specialisation of cells is reversible. In a classic experiment, he replaced the immature cell nucleus in an egg cell of a frog with the nucleus from a mature intestinal cell. This modified egg cell developed into a normal tadpole. The DNA of the mature cell still had all the information needed to develop all cells in the frog.

Shinya Yamanaka discovered more than 40 years later, in 2006, how intact mature cells in mice could be reprogrammed to become immature stem cells. Surprisingly, by introducing only a few genes, he could reprogram mature cells to become pluripotent stem cells, i.e. immature cells that are able to develop into all types of cells in the body.

Breast Cancer Mapping Reveals Four Distinct Types

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September 27, 2012 - Medical News Today

After mapping the genetic features of 800 breast cancer tumors, scientists with The Cancer Genome Atlas (TCGA) program conclude that even given the huge genetic diversity of the disease, there are four main subtypes. They also found a remarkable similarity between one type of breast cancer and ovarian cancer.

The researchers, who write about their findings in a 23 September online issue of Nature, believe they greatly increase the understanding of breast cancer and will lead to more treatment options for patients.

Blood Test May ID Nonviable Pregnancies

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September 27, 2012 - Medpagetoday

Among women who have bleeding or pain and an inconclusive ultrasound scan in early pregnancy, a single serum progesterone test may be able to identify those who are likely to miscarry or who have an ectopic pregnancy, a meta-analysis showed.

In a pooled analysis, a single test with a threshold of 3.2 to 6 ng/mL predicted a nonviable pregnancy with a sensitivity of 74.6% and a specificity of 98.4%, according to Ioannis Gallos, MD, of the University of Oxford in England, and colleagues.

The risk of a nonviable pregnancy was 99.2% when progesterone levels were below the cutoff and 44.8% when they were above the cutoff, the researchers reported online in BMJ.

Another Branch: Coronavirus Genetic Evaluation

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September 28, 2012 - Genomeweb

A new coronavirus has appeared to have killed a man from Saudi Arabia and sickened a Qatari man who had traveled to Saudi Arabia, reports the BBC. The Qatari man was flown to London for treatment, and NPR's Shots blog adds that scientists from the UK Health Protection Agency have examined the virus' gene sequence and say that this virus is not SARS. Rather, the scientists say that it appears to be related to a group of bat viruses.

Finding a new virus: Spit, sequencing and serendipity

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September 28, 2012 - Reuters

Professor Maria Zambon's first thought when her team of scientists matched a virus from a patient's sputum to one never before seen in humans was: "Oh no, this is going to be tricky."

Five days after finding that the patient, a Qatari man in intensive care at a London hospital, had a previously unknown virus from a family called coronaviruses, Zambon's team had sequenced part of its genome, mapped out a so-called "phylogenetic tree" of its links, and published it all online.

"We've done something pretty unique here in terms of early disclosure of data and making the sequence available to the global community incredibly quickly," said Zambon. "That will help people working in diagnostic laboratories worldwide."


Smartphone App Improves Blood Test Technology

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September 27, 2012 - Laboratory Equipment

A team of engineers and students at the Univ. of Rhode Island has developed an advanced blood-testing technology that incorporates a smartphone application, a hand-held biosensor and a credit card-sized cartridge to provide rapid, accurate biological analysis and wireless communication of test results.

Lab-on-a-Bead Technology for Rapid Disease Detection (video)

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September 25, 2012 - Medgadget

Researchers at MIT have developed a new way to measure the mass of individual particles using tiny superparamagnetic beads, a technology that will hopefully lead to cheap and portable point-of-care diagnostic devices. The trick relies on using an oscillating magnetic field to make individual beads resonate . The frequency of the field that makes a bead resonate the most is proportional to the mass of the bead.
An operational device using this new approach would consist of a small reservoir above the tracks, where the liquid containing the magnetic beads and the biological sample would be placed.
Watch the video !

By Simply Sharing, Doctors Could Unlock the Genome's Potential

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September 25, 2012 - Technology Review

Software that enables collaboration between labs could make it easier for doctors to translate genome information.

DNA sequencing is increasingly being used in medicine, but doctors can have trouble making sense of the data. Now sequencing machine manufacturer Illumina has announced that it will integrate software into its desktop sequencing platform to assist physicians with that task. The most interesting aspect of the analysis tool may be its ability to share, which could be key to unlocking the real promise of genomics in medicine.

Every person's genome is full of variations—research estimates that the genomes of any two people differ at around three million positions—but most of these differences, called variants, are harmless. But some variants cause disease, and others contribute to the likelihood of disease. When a variant is suspected to affect health, doctors can turn to the scientific literature for clues, but they may not find any useful information there, or they may find data on entire populations that may not apply to an individual patient.

Novel approach for single molecule electronic DNA sequencing

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September 22, 2012 - Nanowerk

DNA sequencing is the driving force behind key discoveries in medicine and biology. For instance, the complete sequence of an individual's genome provides important markers and guidelines for medical diagnostics and healthcare. Up to now, the major roadblock has been the cost and speed of obtaining highly accurate DNA sequences. While numerous advances have been made in the last 10 years, most current high-throughput sequencing instruments depend on optical techniques for the detection of the four building blocks of DNA: A, C, G and T.

To further advance the measurement capability, electronic DNA sequencing of an ensemble of DNA templates has also been developed.

ENCODE Goes to Court

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September 21, 2012 - Genome Web

The Electronic Frontier Foundation is asking a court considering the legality of DNA collection upon arrest to weigh the findings of the ENCODE project in its decision. In a letter to the US Court of Appeals for the Ninth Circuit, the EFF says that the court's panel opinion in Haskell v. Harris "relied heavily on the assumption that a DNA profile does nothing more than identify a person" and that the 13 CODIS markers commonly used in forensic cases comprise "junk DNA" that is "not linked to any genetic of physical trait."

EFF argues that the ENCODE findings — "which determined that more than 80 percent of DNA once thought to be no more than 'junk' has at least one biochemical function" — contradict the court's opinion and should be considered in its final decision.

Study finds why antidepressants work better for some

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September 19, 2012 - Reuters

British scientists have identified biological markers in the blood which should help doctors match patients to the best type of treatment for depression.

The aim is to end the "trial and error" prescription of antidepressants, which is often the only way depressed patients can find the most effective treatment, said researchers regarding what they described as a small but promising study.

"The study shows that we could use a blood-based "test" to personalize the treatment of depression," said Carmine Pariante of King's College London's Institute of Psychiatry, who led the study.

Is medical science built on shaky foundations?

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September 17, 2012 - Newscientist

More than half of biomedical findings cannot be reproduced – we urgently need a way to ensure that discoveries are properly checked

REPRODUCIBILITY is the cornerstone of science. What we hold as definitive scientific fact has been tested over and over again. Even when a fact has been tested in this way, it may still be superseded by new knowledge. Newtonian mechanics became a special case of Einstein's general relativity; molecular biology's mantra "one gene, one protein" became a special case of DNA transcription and translation.

One goal of scientific publication is to share results in enough detail to allow other research teams to reproduce them and build on them. However, many recent reports have raised the alarm that a shocking amount of the published literature in fields ranging from cancer biology to psychology is not reproducible.

Special ENCODE project: Dive in!

Explore ENCODE here

The ENCODE project offers a fresh perspective on big data by providing an organized framework for genomics ... explore it with the ENCODE Nature explorer programme.


(see article below about the enormous echo about ENCODE results release in the media)

Gestational Exposure to Urban Air Pollution Linked to Vitamin D Deficiency in Newborns

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September 13, 2012

Gestational exposure to ambient urban air pollution, especially during late pregnancy, may contribute to lower vitamin D levels in offspring, according to a recent study accepted for publication in The Endocrine Society's Journal of Clinical Endocrinology and Metabolism (JCEM). According to study authors, this could affect the child's risk of developing diseases later in life.

Chemists Develop Nose-Like Array to 'Smell' Cancer

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September 13, 2012 - ScienceDaily

In the fight against cancer, knowing the enemy's exact identity is crucial for diagnosis and treatment, especially in metastatic cancers, those that spread between organs and tissues. Now chemists led by Vincent Rotello at the University of Massachusetts Amherst have developed a rapid, sensitive way to detect microscopic levels of many different metastatic cell types in living tissue.

Australian scientists develop genetic test to predict autism

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September 12, 2012 - Reuters

Australian scientists have developed a genetic test to predict autism spectrum disorder in children, which could provide a long-sought way for early detection and intervention, according to a study published on Wednesday.

'Mad Cow' Blood Test Now On the Horizon

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September 11, 2012 - Sciencedaily

A simple blood test for Creutzfeldt-Jakob Disease and Mad Cow disease is a step closer, following a breakthrough by medical researchers at the University of Melbourne.
Using newly available genetic sequencing scientists discovered cells infected with prions (the infectious agent responsible for these diseases) release particles which contain easily recognized 'signature genes'.

Task Force Says No to Routine Screening for Ovarian Cancer

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September 10, 2012 - Medscape

The US Preventive Task Force has recommended against routine preventive screening of asymptomatic women with no risk factors for ovarian cancer in a report published online September 10 in the Annals of Internal Medicine.

The report echoes a recommendation made by the task force in 2004, which found that "the potential harms outweighed the potential benefits of screening." However, this new recommendation factors in additional literature reviews commissioned by the task force in 2008 and 2011. The reviews found no new evidence that routine screening reduced mortality in women with no symptoms or risk factors, but concluded that it could cause significant harm to patients in the form of unnecessary surgical procedures resulting from false-positive results.

The new world of DNA

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September 8, 2012 - The Economist

A long-term effort to catalogue all the bits of the human genome that do something has released its results.

A release which includes some 30 research papers, six of them in the journal Nature, and a huge amount of well-curated data being made freely available online (yes, there’s even an app).

This is biology on a scale that takes hundreds of people years of their lives, costing as much as all but the biggest telescopes used by today’s watchers of the skies. And it reveals a new world...

The revelation’s effect may be poetic in its grandeur. Its nature, though, is prosaic...

Mapping a Genetic World Beyond Genes

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September 5, 2012 - Science Daily

Most of the DNA alterations that are tied to disease do not alter protein-coding genes, but rather the "switches" that control them. Characterizing these switches is one of many goals of the ENCODE project -- a sweeping, international effort to create a compendium of all of the working parts of the human genome that have not been well studied or well understood.

Rate of Women With Pregnancy-Associated Cancer On the Rise, Study Suggests

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September 4, 2012 - Science Daily

The rate of pregnancy-associated cancer is increasing and is only partially explained by the rise in older mothers suggests new research published in BJOG: An International Journal of Obstetrics and Gynaecology.

Women with pregnancy-associated cancer, where the initial diagnosis of cancer is made during pregnancy or within 12 months of delivery, are compared to women without cancer.

Rapid MDx on infections

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September 3, 2012 - EuroBiotechnews

EU-funded researchers will use a €6m grant to develop cost-effective molecular diagnostics (MDx) tools for the rapid diagnosis of infections.

The aim is to come up with a test that would reduce the diagnosis time of respiratory tract infections from days to hours, so that the appropriate treatments can be administered as early as possible, giving patients the best possible chance of a swift recovery. These diagnostic products will be based on a novel "sample-in, result-out" technology platform.

Checking the biological clock

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September 3, 2012 - European Hospital

Every woman hears her biological clock ticking, marking the time in her life when she can fulfil a hope of becoming pregnant. The sound can echo powerfully among professional women who, arriving at a more stable period in life, wonder if there is still time to begin a family. ‘How much time do I have?’

From the moment a woman is born, the number of eggs that she will produce in her lifetime is already determined by both the quantity and quality of her ovarian pool, which diminishes with each passing year. Today both the woman’s question of time, and the clinician’s question about the ovarian reserve can be answered thanks to the anti-Mullerian hormone (AMH) test, more commonly called the ‘egg timer test’.

Mass Spectrometry Makes the Clinical Grade

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September 3, 2012 - Science Daily

Combining two well-established analytic techniques and adding a twist identifies proteins from blood with as much accuracy and sensitivity as the antibody-based tests used clinically, researchers report this week in Proceedings of the National Academy of Sciences Early Edition online. The technique should be able to speed up development of diagnostic tests and treatments based on proteins specific to certain diseases.

A New Light Shed On Genetic Regulation's Role in the Predisposition to Common Diseases

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September 2, 2012 - Science Daily

Genetic disease risk differences between one individual and another are based on complex aetiology. Indeed, they may reflect differences in the genes themselves, or else differences at the heart of the regions involved in the regulation of these same genes.
By gene regulation we mean the decision that the cell makes as to when, where and at what level to activate or suppress the expression of a gene. In theory, two people could thus share a gene that is perfectly identical and yet show differences in their predisposition to a disease due to genetic differences concerning the regulation (overexpression or underexpression) of this same gene.

Danish Scientists Solve Old Blood Mystery: New Intriguing Knowledge On Blood Hemoglobin

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August 31, 2012 - Science Daily

Scientists at the research centre MEMBRANES at Aarhus University, Denmark, have completed an old puzzle, which since the 1960s from many sides has been regarded as impossible to complete. The challenge was to solve the structure of the protecting protein complex that forms when hemoglobin is released from red cells and becomes toxic. This toxic release of hemoglobin occurs in many diseases affecting red cell stability, e.g. malaria.
Technically, the most important finding in this report in Nature is a high-resolution three-dimensional mapping of the so-called 'haptoglobin-hemoglobin complex'.

New Tests Could Divine a Baby's Genome Before Birth

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August 29, 2012 - Technology Review

Expectant mothers are used to fuzzy images on ultrasound monitors and blood tests to screen for potential health problems in their unborn babies. But what if one of those blood tests came back with a readout of the baby's entire genome? What if a simple test gave parents every nuance of a baby's genetic makeup before birth?

Recent studies show that it's possible to decode an entire fetal genome from a sample of the mother's blood (see "Using Parents' Blood to Decode the Genome of a Fetus"). In the future, doctors may be able to divine a wealth of information about genetic diseases or other characteristics of a fetus from the pregnant mother's blood.
Such tests will raise ethical questions about how to act on such information. But they could also lead to research on treating diseases before birth, and leave parents and their doctors better prepared to care for babies after birth.

Fetal Cell-Free DNA In Maternal Blood Unaffected By Trisomy Risk, Study

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August 31, 2012 - Medical news Today

Findings Support Applicability of Non-invasive Prenatal Testing in General Screening Population

A study published in The Journal of Maternal-Fetal and Neonatal Medicine demonstrates that the fraction of fetal cell-free DNA (cfDNA) in maternal blood is unaffected by the mother's presumed risk for trisomy, offering support for the use of non-invasive prenatal testing (NIPT) for detecting genetic conditions such as Down syndrome in a broad patient population.

New Blood Test Helps Determine Who Benefits Most From Implantable Cardioverter Defibrillators

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August 27, 2012 - Science Daily
Some heart failure patients benefit from having an implantable cardioverter defibrillator (ICD) while others do not - a new blood test that predicts risk of death may help doctors determine who should get an ICD, Professor Samuel Dudley, from the University of Illinois at Chicago College of Medicine explained at the European Society of Cardiology Congress 2012, in Munich, Germany.

Sensor Detects Glucose in Saliva and Tears for Diabetes Testing

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August 23, 2012 - Science Daily
Researchers have created a new type of biosensor that can detect minute concentrations of glucose in saliva, tears and urine and might be manufactured at low cost because it does not require many processing steps to produce.

Genomics Solves Medical Mystery

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August 22, 2012 - Technology Review
Between June and December of last year, 17 patients at the Clinical Center of the U.S. National Institutes of Health in Bethesda, Maryland, came down with a bloodstream infection; six of them died. Doctors knew that a patient had arrived with Klebsiella pneumoniae in June, but it wasn't clear how the bacterium, a common culprit in hospital-acquired infections, was passed around, or whether several different patients had simply brought it in with them.
By taking bacterial samples from the patients and certain hospital equipment and analyzing the genomes of the different strains, researchers traced the organism's meandering path as it cut a deadly swath through the facility. The study, published today in Science Translational Medicine, represents the first such use of whole-genome scanning in a hospital during an outbreak.

New Laboratory Test Assesses How DNA Damage Affects Protein Synthesis

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August 21, 2012 - Science Daily
Transcription is a cellular process by which genetic information from DNA is copied to messenger RNA for protein production. But anticancer drugs and environmental chemicals can sometimes interrupt this flow of genetic information by causing modifications in DNA.

Alzheimer's Blood Test - Scientists Closing In

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August 14, 2012 - Medical News today
Scientists are a step closer to developing a blood test for Alzheimer's disease following the publication online this month in Neurology of a new study that found four biomarkers showed consistent results across three independent groups of patients.

Ethical Issues In Prenatal Whole Genome Sequencing

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August 14, 2012 - source : Medical News Today
With whole genome sequencing quickly becoming more affordable and accessible, we need to pay more attention to the massive amount of information it will deliver to parents - and the fact that we don't yet understand what most of it means, concludes an article in the Hastings Center Report.

Evidence Grows for Existence of Cancer Stem Cells

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August 1, 2012 - Technology Review
Several independent studies have provided strong evidence for the existence of cancer stem cells in some brain tumors, and potentially in skin and colon cancers as well. Like their powerful, healthy counterparts, the putative cancer stem cells have the ability to endlessly self-renew and produce progeny that can develop into all the different types of cells within a tumor. Some may even be resistant to many standard cancer therapies, and could be the cause of cancer relapse.
But whether they actually exist in solid tumors is a controversial notion. Three studies published today won't end the debate, but they do lend greater credence to the theory, and could provide support for new approaches to cancer treatment.

SPECIAL SUMMER BREAK ANNOUNCEMENT

We are off for a few weeks. We will be back with more scientific and biomedical news soon.

See you from August 28th, 2012.
We wish everyone a very pleasant summer.

New Way to Induce Programmed Cell Death, or Apoptosis

It was published in the Journal of Biological Chemistry
July 17, 2012 - source : Science Daily

Researchers from the Hebrew University of Jerusalem and the Weizmann Institute of Science have developed a technique to cause apoptosis, or programmed cell death, that could lead to new approaches to treating cancer.

Apoptosis is an essential defense mechanism against the spread of abnormal cells such as cancer. It is a complex process that occurs through networks of proteins that interact with each other. Cancer cells usually avoid this process due to mutations in the genes that encode the relevant proteins. The result is that the cancer cells survive and take over while healthy cells die.

The research was published in the Journal of Biological Chemistry.


Helper T Cells, Not Killer T Cells, Might Be Responsible for Clearing Hepatitis A Infection

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July 16, 2012 - source : Science Daily

Helper cells traditionally thought to only assist killer white blood cells may be the frontline warriors when battling hepatitis A infection.

These are the findings from a Nationwide Children's Hospital study appearing in a recent issue of the Journal of Experimental Medicine.

Unlike the hepatitis C virus, the hepatitis A virus does not establish a persistent infection. Yet, up to 20 percent of patients can relapse several weeks after virus growth and after symptoms have disappeared.

"Mechanisms of immunity that protect against relapse, and why they occasionally fail, are unknown," said the study's lead author Christopher M. Walker


Differences Between Human Twins at Birth Highlight Importance of Intrauterine Environment

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July 15, 2012 - source : Science Daily
Your genes determine much about you, but environment can have a strong influence on your genes even before birth, with consequences that can last a lifetime. In a study published online in Genome Research, researchers have for the first time shown that the environment experienced in the womb defines the newborn epigenetic profile, the chemical modifications to DNA we are born with, that could hhttp://www.jib-sdbio.fr/admin/index.phpave implications for disease risk later in life.


Immune Cell DNA Utilized For Diagnostic Technique

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July 11, 2012 - source : Medical News Today

When a person is sick, there is a tell-tale sign in their blood: a different mix of the various types of immune cells called leukocytes. A group of scientists at several institutions including Brown University has discovered a way to determine that mix from the DNA in archival or fresh blood samples, potentially providing a practical new technology not only for medical research but also for clinical diagnosis and treatment monitoring of ailments including some cancers.

The key to the new technique, described in two recent papers, is that scientists have identified in each kind of leukocyte a unique chemical alteration to its DNA, called methylation. By detecting these methylation signatures in a patient's blood sample and applying a mathematical analysis, the researchers are able to determine the relative levels of different leukocytes and correlate those with specific diseases.


An Alzheimer's Warning 25 Years Before Symptoms Show

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July 11, 2012 - source : Technology Review

The rise and fall of certain proteins can indicate dementia's onset decades before the appearance of symptoms.

The first detectable signs of Alzheimer's disease occur as long as a quarter century before symptoms like memory loss become noticeable, according to a detailed chronology of molecular changes to the brain and spinal fluid of people who later developed the brain disease.

The research, published today in the New England Journal of Medicine, provides a timeline of the subtle changes that begin in victims' brains and, importantly, can be detected years ahead of time by MRI exams, blood analyses, or other tests.

The development of biomarkers that can track and predict the natural course of the disease is important for carrying out drug studies, in part because changes to these molecules could give early hints that a drug works. Treatments for Alzheimer's have all been unsuccessful so far—in part, researchers think, because people received drugs only after symptoms had become obvious and their brains were too damaged to recover.


Using Biomarkers to Identify and Treat Schizophrenia

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July 11, 2012 - source : Science Daily

In the current online issue of PLoS ONE, researchers at the University of California, San Diego School of Medicine say they have identified a set of laboratory-based biomarkers that can be useful for understanding brain-based abnormalities in schizophrenia. The measurements, known as endophenotypes, could ultimately be a boon to clinicians who sometimes struggle to recognize and treat the complex and confounding mental disorder.


Giving ancient life another chance to evolve

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July 11, 2012 - source : Biology News net

It's a project 500 million years in the making. Only this time, instead of playing on a movie screen in Jurassic Park, it's happening in a lab at the Georgia Institute of Technology, USA.
Using a process called paleo-experimental evolution, Georgia Tech researchers have resurrected a 500-million-year-old gene from bacteria and inserted it into modern-day Escherichia coli(E. coli) bacteria. This bacterium has now been growing for more than 1,000 generations, giving the scientists a front row seat to observe evolution in action.


Anxiety Linked to Shortened Telomeres, Accelerated Aging

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July 11th, 2012 - source: Science Daily

Is anxiety related to premature aging?
A new study by researchers at Brigham and Women's Hospital (BWH) shows that a common form of anxiety, known as phobic anxiety, was associated with shorter telomeres in middle-aged and older women. The study suggests that phobic anxiety is a possible risk factor for accelerated aging.
The study will be electronically published on July 11, 2012 in PLoS ONE.

Telomeres are DNA-protein complexes at the ends of chromosomes. They protect chromosomes from deteriorating and guard the genetic information at the ends of chromosomes during cell division. Telomeres are considered markers of biological or cellular aging. Shortened telomeres have been linked to increased risk of cancers, heart disease, dementia and mortality.


Decline of Immune System With Aging May Have a Genetic Cause

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July 11th, 2012 - source: Science Daily

Important insights that explain why our ability to ward off infection declines with age are published in a new research report in the July 2012 issue of the Genetics Society of America's journal, Genetics. A team of U.S. scientists identified genes responsible for this decline by examining fruit flies -- a model organism often used to study human biology in an experimentally tractable system -- at different stages of their lives. They found that a completely different set of genes is responsible for warding off infection at middle age than during youth.

Many of the genes identified are also present in humans, so this study opens doors to understanding genetic interactions that underlie why older people have more trouble fighting off infections than do younger people.

"We believe we have identified genes that contribute to the age-related deterioration of the immune response to infection," said a researcher involved in the work from the Department of Biological Sciences at the University of Maryland, Baltimore County.

Giving ancient life another chance to evolve

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July 11th, 2012 - source: Biology News Net

It's a project 500 million years in the making. Only this time, instead of playing on a movie screen in Jurassic Park, it's happening in a lab at the Georgia Institute of Technology.

Using a process called paleo-experimental evolution, Georgia Tech researchers have resurrected a 500-million-year-old gene from bacteria and inserted it into modern-day Escherichia coli(E. coli) bacteria. This bacterium has now been growing for more than 1,000 generations, giving the scientists a front row seat to observe evolution in action.

Using Biomarkers to Identify and Treat Schizophrenia

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July 11th, 2012 - source: Science Daily

In the current online issue of PLoS ONE, researchers at the University of California, San Diego School of Medicine say they have identified a set of laboratory-based biomarkers that can be useful for understanding brain-based abnormalities in schizophrenia. The measurements, known as endophenotypes, could ultimately be a boon to clinicians who sometimes struggle to recognize and treat the complex and confounding mental disorder.


Anxiety Linked to Shortened Telomeres, Accelerated Aging

Read full story
July 11th, 2012 - source: Science Daily

Is anxiety related to premature aging? A new study by researchers at Brigham and Women's Hospital (BWH) shows that a common form of anxiety, known as phobic anxiety, was associated with shorter telomeres in middle-aged and older women. The study suggests that phobic anxiety is a possible risk factor for accelerated aging.
The study will be electronically published on July 11, 2012 in PLoS ONE.

Telomeres are DNA-protein complexes at the ends of chromosomes. They protect chromosomes from deteriorating and guard the genetic information at the ends of chromosomes during cell division. Telomeres are considered markers of biological or cellular aging. Shortened telomeres have been linked to increased risk of cancers, heart disease, dementia and mortality.

Cancer immunotherapy shows promise in multiple tumor types

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July 6th, 2012 - source: Nature

The approval last year of the immunotherapy drug Yervoy (ipilimumab) in the US and Europe was hailed as a major advance for the treatment of late-stage melanoma. The antibody drug, which promotes broad T cell function by blocking a surface protein called cytotoxic T lymphocyte antigen 4 (CTLA-4), can add years to a person's life, transforming metastatic skin cancer from a death sentence to a manageable condition. However, Yervoy works only in 20–30% of patients who take it, and the drug is often accompanied by severe or even fatal autoimmune side effects. So, the hunt has been on for safer and more broadly applicable immunotherapy strategies, and now a new class of cancer drug that boosts T cells in a more targeted fashion is showing early signs of dramatic success.

Single-Molecule Sequencing Gets a Crucial Fix

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July 5th, 2012 - source: Technology Review

The technique was once considered too error-prone to be useful, but a computational fix could bring it into the world of medical research.

computational fix for single-molecule DNA sequencing technologies could bring the latest crop of gene readers into more widespread use.

New DNA sequencing technologies such as those offered by Oxford Nanopore and Pacific Biosciences can directly read a single molecule of DNA and can provide a clearer view of the organization of a genome and its genetic content. But the technology suffers from a high error rate. That is, too often it sees the wrong nucleotide—an A, T, G, or C—in a DNA strand.

In a new Nature Biotechnology paper, researchers show how to vastly improve single-molecule sequencing, using the method to improve the results from Pacific Biosciences' technology. The technique could be broadly applicable to other single-molecule sequencing, such Oxford Nanopore's approach.

Meet patients to get your motivation back

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July 4th, 2012 - source: Nature

Editorial by Tal Nuirel

Biomedical scientists risk forgetting what they’re working for if they don’t connect with the people who are affected by their research.

Most research scientists, especially in biomedicine, can probably remember when their early wide-eyed enthusiasm started to wane. For me, it was during my time as a research technician at New York University Langone Medical Center. One afternoon in the lab, I announced that I really wanted to “cure a disease” one day.

My comment was innocent and genuine, so I was caught off guard when a couple of postdocs in the lab laughed at it. They told me that researchers don’t ‘cure’ anything any more; at best, they develop drugs effective enough to secure government approval, and even that is nearly impossible.

Sequencing of Fetal Genomes Using Only Maternal Blood Sample

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July 4th, 2012 - source: Science Daily

Researchers at the Stanford University School of Medicine have for the first time sequenced the genome of an unborn baby using only a blood sample from the mother.

The findings from the new approach, published July 4 in Nature, are related to research that was reported a month ago from the University of Washington. That research used a technique previously developed at Stanford to sequence a fetal genome using a blood sample from the mother, plus DNA samples from both the mother and father.

The whole genome sequencing in the new Stanford study, however, did not require DNA from the father -- a significant advantage when a child's true paternity may not be known (a situation estimated to affect as many as one in 10 births in this country) or the father may be unavailable or unwilling to provide a sample. The technique brings fetal genetic testing one step closer to routine clinical use.

NAIMIT – Science of the future can cure disease with bacteria

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July 3rd, 2012 - source: European Commission

Bacteria are normally perceived as a threat to health, to be eradicated with antibiotics and bleach. But one common strain of bacteria used to make buttermilk and cheese may one day eliminate the need for insulin therapy for people with diabetes.

Researchers with the European Union (EU)-funded project Natural Immunomodulators as Novel Immunotherapies for Type I Diabetes – or NAIMIT – are testing genetically altered bacteria known as Lactococcus lactis, which is showing promise to produce a valid treatment for Type I diabetes. Success in these clinical trials already has had profound implications for future innovation and could have a positive impact on human health.

T-cell Vaccines Could Treat Elusive Diseases

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July 3rd, 2012 - source: Technology Review, Biomedicine

A biotech company believes it can create the first effective T-cell vaccines. If it is right, it would redefine infectious medicine.

For some infectious diseases, traditional vaccines just don't cut it. Microbes that hide inside human cells and cause chronic illness aren't stymied by the antibody response generated by the kind of vaccine available at the doctor's office. T-cell vaccines, which activate a different type of immune response, could, in theory, better prevent or control such chronic infections, but so far nobody has been successful at transitioning T-cell vaccines from the lab bench to the clinic.

Photo: Mercurial mercenary: A colored scanning electron micrograph of a T cell.
© David Scharf | Science Faction | Corbis


Epigenetics Alters Genes in Rheumatoid Arthritis

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July 3rd, 2012 - source: Science Daily

It's not just our DNA that makes us susceptible to disease and influences its impact and outcome. Scientists are beginning to realize more and more that important changes in genes that are unrelated to changes in the DNA sequence itself -- a field of study known as epigenetics -- are equally influential.

A research team at the University of California, San Diego -- led by Gary S. Firestein, professor in the Division of Rheumatology, Allergy and Immunology at UC San Diego School of Medicine -- investigated a mechanism usually implicated in cancer and in fetal development, called DNA methylation, in the progression of rheumatoid arthritis (RA). They found that epigenetic changes due to methylation play a key role in altering genes that could potentially contribute to inflammation and joint damage. Their study is currently published in the online edition of the Annals of the Rheumatic Diseases.

Surprising Culprit Behind Chemo Resistance in Rare Cancer

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July 2d, 2012 - source: Science Daily

Researchers at Washington University School of Medicine in St. Louis have shown how an aggressive form of multiple myeloma resists chemotherapy.

Multiple myeloma is a rare cancer of plasma cells in the bone marrow. Though the finding has no immediate benefit for patients, the scientists say it could help guide research into better treatments.

The results appear online July 2 in the Journal of Clinical Investigation.

A Test for Imminent Heart Attack
How Close is the Science to Clinical Reality?

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July 2012 - source: AACC - Clinical Laboratory News

Since the 1970s, a series of discoveries and innovations have steadily narrowed the time needed to diagnose myocardial infarction (MI). Today, the gold standard is a cardiac troponin (cTn) measurement exceeding the 99th percentile of a normal reference population, with rising or falling values within 6–9 hours of symptom onset key in discerning the condition. New high-sensitivity cTn assays now being implemented in many facilities have narrowed even further the window for detecting the change value of this analyte, thereby enabling still earlier diagnosis of MI.

Researchers at Scripps Translational Science Institute in San Diego recently published research that one day might lead to a diagnostic test that identifies such patients on the verge of a heart attack. If expanded upon and validated in other studies, their findings could transform management of these individuals.

“Our idea was to pick up on a finding published in 1999 that the endothelial cells from the artery that are being shed in advance of the heart attack by days up to a couple of weeks, could be detected in the blood. In 1999, there really weren’t the tools to say for certain if those cells were coming from the artery supplying the heart muscle, so we went back to that with a large National Institutes of Health grant and basically went after it”, say authors.


Surprising Culprit Behind Chemo Resistance in Rare Cancer

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July 2d, 2012 - source: Science Daily

Researchers at Washington University School of Medicine in St. Louis have shown how an aggressive form of multiple myeloma resists chemotherapy.

Multiple myeloma is a rare cancer of plasma cells in the bone marrow. Though the finding has no immediate benefit for patients, the scientists say it could help guide research into better treatments.

The results appear online July 2 in the Journal of Clinical Investigation.

Why Cancer Rate Increases With Age (It's Not What You Think)

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July 2d, 2012 - source: Science Daily

Cancers are age-related, much more frequent in the old than in the young. A University of Colorado Cancer Center review published July 2 in the journal Oncogene argues against the conventional wisdom that the accumulation of cancer-causing mutations leads to more cancer in older people, instead positing that it is the changing features of tissue in old age that promote higher cancer rates in the elderly.

New Marker, New Target in Ewing's Sarcoma

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June 29th, 2012 - source: Science Daily

Ewing's sarcoma is a bone cancer commonly diagnosed in about 250 U.S. teenagers per year. If early chemotherapy is effective, improvement can be durable. But for children and teens who respond poorly to a first attempt at chemotherapy or if the disease spreads, long-term survival can be less than 10 percent.

A University of Colorado Cancer Center study published this week in the journal Molecular Cancer Research shows an important difference that may explain why some respond and some don't: the existence of high levels of the protein EYA3.

Urine Test Detects Changes in Bone Mineral Balance

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June 27th, 2012 - source: Labmedica

An innovative technique has been introduced that is more sensitive in detecting bone loss than the X-ray method used today, and with less risk to patients.

With the novel technique, bone loss is detected by carefully analyzing the isotopes of the chemical element calcium that are naturally present in urine and eventually it may find use in clinical settings, and could pave the way for additional innovative biosignatures to detect disease.

H1N1 Pandemic May Have Killed Nearly 300,000

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June 25th, 2012 - source: Medpage Today

A new estimate places the number of people killed by the pandemic influenza A H1N1 strain worldwide at 284,400, about 15 times greater than the number of reported laboratory-confirmed cases, researchers found.

But the estimate spans a range as low as 151,700 and as high as 575,400 during the first year of virus circulation, Fatimah Dawood, MD, of the CDC's influenza division in Atlanta, and colleagues reported online in The Lancet Infectious Diseases.

Most of the deaths occurred in individuals younger than 65 (80%) and in Africa and Southeast Asia (59%).

Dawood and colleagues developed a new technique to estimate deaths from the pandemic strain.

"Continued efforts to strengthen influenza surveillance worldwide, particularly for influenza-associated mortality, are needed both to guide seasonal influenza prevention strategies and to build influenza surveillance systems to provide better and more timely and globally representative data for influenza-associated mortality during future pandemics", authors recommend.

Exome Sequencing Gives Cheaper, Faster Diagnosis in Heterogeneous Disease, Study Shows

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June 25th, 2012 - source: Science Daily

The first report of the diagnostic use of the technique of exome sequencing, where short sequences of DNA are analysed, shows that it can give good results at low cost, a researcher from The Netherlands will tell the annual conference of the European Society of Human Genetics June 25. The scientists were able to perform a genetic diagnosis in around 20% of 100 cases of patients with intellectual disability (ID) and 50% of the 25 cases of blindness studied. Not only is the exome test cheaper, but results are available more quickly than with Sanger sequencing, they say.

Parkinson's UK seeks protein biomarkers for diagnosing, tracking disease

June 26, 2012 - source: Genome Web

The British non-profit Parkinson's UK plans to provide £750,000 ($1.2 million) for research to find protein biomarkers for diagnosing and measuring the progress of Parkinson's disease.

The new grant, which is available to researchers within and outside the UK, will fund a study that uses a proteomics-based approach to identify biomarkers in blood or cerebrospinal fluid, Parkinson's UK said in a funding announcement late last week.

These markers would enable better and more accurate diagnosis of Parkinson's, or would be used to assess the efficacy of new therapies, such as neuroprotective or neurorestorative drugs.

Results from the three-year study will be integrated into the non-profit's Tracking Parkinson's longitudinal clinical study, which aims to enlist thousands of patients through a network of more than 40 study centers across the UK.

Parkinson's UK said that universities, research institutes, or hospital trusts may apply for the funding, and it will consider projects that involve collaborations between the academic and biotech business sector.

Genome-Wide Analysis Shows Previously Undetected Abnormalities in Parents of Affected Children

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June 25, 2012 - source: Science Daily

The use of genome-wide array analysis[1] in parents whose children are suspected of having a genetic disease shows that the parents frequently also have previously undetected genetic abnormalities, a researcher from The Netherlands told the annual conference of the European Society of Human Genetics June 24. Being aware of this is important to parents because it means that their risk of having another affected child is significantly increased.

Most Commonly Mutated Gene in Cancer May Have a Role in Stroke

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June 22d, 2012 - source: Science Daily

The gene p53 is the most commonly mutated gene in cancer. p53 is dubbed the "guardian of the genome" because it blocks cells with damaged DNA from propagating and eventually becoming cancerous. However, new research led by Ute M. Moll, M.D., Professor of Pathology at Stony Brook University School of Medicine, and colleagues, uncovers a novel role for p53 beyond cancer in the development of ischemic stroke. The research team identified an unexpected critical function of p53 in activating necrosis, an irreversible form of tissue death, triggered during oxidative stress and ischemia.
The findings are detailed online in Cell.

New Approach to Diagnosing and Treating Dementia

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June 22d, 2012 - source: Science Daily

Some dementia patients show symptoms of a malfunctioning immune system and can receive appropriate treatment.

The study published in the journal Neurology shows that immune reactions against the body's own nerve cells can be the cause of advanced dementia and an appropriate immune suppressive therapy can develop with significant effectiveness.

Avian Flu Viruses Which Are Transmissible Between Humans Could Evolve in Nature

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June 21st, 2012 - source: Science Daily

It might be possible for human-to-human airborne transmissible avian H5N1 influenza viruses to evolve in nature, new research has found.

Currently, avian H5N1 influenza, also known as bird flu, can be transmitted from birds to humans, but not (or only very rarely) from human to human. However, two recent papers by Herfst, Fouchier and colleagues in Science and Imai, Kawaoka and colleagues in Nature reveal that potentially with as few as five mutations (amino acid substitutions), or four mutations plus reassortment, avian H5N1 can become airborne transmissible between mammals, and thus potentially among humans. However, until now, it was not known whether these mutations might evolve in nature.

Image: Colorized transmission electron micrograph of Avian influenza A H5N1 viruses (seen in gold) grown in MDCK cells (seen in green). (Credit: CDC/Courtesy of Cynthia Goldsmith; Jacqueline Katz; Sherif R. Zaki)

How Do Infections Lead To Malignancy?

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June 19th, 2012 - source: Medical News Today

Viral or bacterial chronic inflammations of the colon, liver or stomach are often large risk factors for cancer. A new MIT study published the Proceedings of the National Academy of Sciences (PNAS) provides a detailed explanation as to how infections like these can turn healthy tissues into cancerous ones.

PCT Biomarker for Systemic Infection Holds Potential for Other Clinical Purposes

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June 20th, 2012 - source: IVD Technology

PCT’s capability to monitor the efficacy and necessary duration of antimicrobial therapy shows great promise for the future.

Procalcitonin (PCT) is the precursor of calcitonin (CT), a hormone that originates in the thyroid gland and reduces blood calcium. The importance of CT in humans is still not well established, compared with its importance in various animal species. This is interesting when juxtaposed with the role its precursor PCT plays in diagnosing infections in hospitals all over the world (see Figure 1). PCT has been a valuable marker for bacterial sepsis for nearly two decades, ever since it was initially discovered that PCT levels increased exponentially during bacterial infections and that there was a correlation between the amount of PCT increase and severity of the infection.

NA-NOSE – The simple breath test that can detect cancer

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June 20th, 2012 - source: European Commission

No-one wants to be told that they have cancer. But the earliest possible diagnosis is often the key to ensuring survival. So a new technique developed by Israeli scientists wich can instantly detect cancer even in its very earliest stages, using just a simple breath-test, offers the clear hope of a major breakthrough in improving cancer survival rates.

Vitamin D May Have Role in Pancreatic Cancer Survival

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June 19th, 2012 - source: Medpage Today

A mutation in a vitamin D receptor (VDR) was associated with improved survival in two large cohorts of patients with advanced and metastatic pancreatic cancer, investigators reported.

On the basis of the findings and other data showing associations between vitamin D and pancreatic cancer, investigators proposed that mutations in VDR modulate the gene's expression, which, in turn, influences behavior in pancreatic cancer cells.

Chemists use nanopores to detect DNA damage

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June 18th, 2012 - source: Nanowerk

Scientists worldwide are racing to sequence DNA – decipher genetic blueprints – faster and cheaper than ever by passing strands of the genetic material through molecule-sized pores. Now, University of Utah scientists have adapted this "nanopore" method to find DNA damage that can lead to mutations and disease.

The chemists report the advance in the week of June 18 online edition of the journal Proceedings of the National Academy of Sciences ("Crown ether–electrolyte interactions permit nanopore detection of individual DNA abasic sites in single molecules").

Image : This illustration shows a strand of DNA with nucleotide bases (A,T, G and C) attached, moving downward through a molecule-wide pore known as a nanopore. The “X” marks the location of a missing base, a form of DNA damage that, if unrepaired, can lead to gene mutations and disease. By attaching a ring-shaped chemical to the damage site and placing a sodium ion inside the ring, movement of the DNA through the nanopore is slowed to the point that chemists can detect the DNA damage site. University of Utah chemists developed this new use of nanopore technology to detect DNA damage.


Europeans crack embryonic stem cells mystery

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June 18th, 2012 - source: European Commision

Europeans are driving research and technology, and their latest achievement is in discovering that embryonic stem cell properties are impacted by the laboratory conditions used to grow them. In their groundbreaking study, a European team of researchers evaluated embryonic stem cells grown in a pure undifferentiated state. The use of next generation sequencing technology enabled them to analyse gene expression (i.e. transcriptome) and chromatin modifications (i.e. epigenome). The study, presented in the journal Cell, was supported in part by four EU-funded projects: HEROIC, PLURISYS, EUROSYSTEM and ATLAS.

The results pinpoint key differences between pure stem cells and embryonic stem cells grown in laboratory settings.

Gut bugs confined to quarters by special immune cells

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June 17th, 2012 - source: New Scientist

There is a fine line between help and harm. The trillions of gut bacteria that are important for our health are prevented from escaping to cause havoc in other tissues by special immune cells.

A team led by David Artis at the University of Pennsylvania School of Medicine in Philadelphia has demonstrated, using mice, that the immune cells – innate lymphoid cells – confine bacteria to the gut by barricading the lining of the gut and neighbouring tissues. Keeping the microbes in check seems to be important: other research has shown that they are abnormally abundant in the blood of people with Crohn's disease.

Glucose Levels May Predict Pneumonia Death Risk

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June 18th, 2012 - source: Labmedica

Nondiabetic patients who have high blood glucose on admission for community-acquired pneumonia (CAP) are at significantly elevated risk for death and may benefit from intensified care.

At the University Hospital of Saarland (Homburg, Germany) scientists carried out a prospective multicenter study on 6,891 patients from 12 clinical centers.

Higher serum glucose levels were associated with increased mortality in all patients.

Girl receives pioneering vein transplant

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June 15th, 2012 - source: New Scientist

A 10-year-old girl in Sweden is the world's first recipient of a donated vein treated with a patient's own stem cells.

She suffered recurrent blockages in the hepatic portal vein, which drains blood from the gut and spleen into the liver. The condition severely restricted her growth and vitality. Since receiving the vein, she has flourished. "She's doing somersaults, going for long walks, and is a totally different child," says Suchitra Sumitran-Holgersson of the University of Gothenburg in Sweden.

© RIEDMILLER/CARO FOTOS / Sipa

Antigen Test Designed for Point-of-Care Detection

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June 14th, 2012 - source: Labmedica

A novel antigen-detection test shows efficacy in rapidly identifying a variety of respiratory viruses at the point of care in a pediatric setting.

The automated, MultiAnalyte system, is capable of detecting from a single nasopharyngeal swab specimen eight respiratory viruses including respiratory syncytial virus (RSV); influenza A and B viruses; adenovirus; parainfluenza type 1, 2, and 3 viruses; and Human metapneumovirus.

Battle History Between Bacteria, Viruses in Human Body

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June 13th, 2012 - source: Science Daily

An Indiana University team of researchers has conducted the most in-depth and diverse genetic analysis of the defense systems that trillions of micro-organisms in the human body use to fend off viruses. The work is among a collection of 16 research papers released June 14 by the Human Microbiome Project Consortium, a National Institutes of Health-led effort to map the normal microbial make-up of healthy humans.

A visualization of a network of 150 CRISPRs, each represented as a node. Blue nodes are known CRISPRs; red nodes are novel CRISPRs. CRISPRs sharing more genomic repeats are connected by thick lines; those sharing fewer repeats are connected by thin lines. (Credit: Image courtesy of Indiana University)

Real-time gene sequencing used to combat superbug

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June 13th, 2012 - source: Reuters

Scientists have used genome sequencing technology to control an outbreak of the superbug MRSA in a study that could point to faster and more efficient treatment of a range of diseases.

The work adds to a burgeoning body of research into better techniques for diagnosing disease more quickly and at an earlier stage to allow more effective treatment and reduce healthcare costs.

Much of this is being driven by whole genome sequencing, which has enabled scientists to identify the genetic markers for a range of afflictions.

Tiny ‘speed Bump’ Device Could Sort Cancer Cells

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June 12th, 2012 - source: Science Daily

Two Johns Hopkins engineers say they have found an easy way to use gravity or simple forces to similarly sort microscopic particles and bits of biological matter -- including circulating tumor cells.

They developed a lab-on-chip platform, also known as a microfluidic device, that can sort particles, cells or other tiny matter by physical means such as gravity.
The process described in the journal article could be used to produce a medical diagnostic tool, the Whiting School of Engineering researchers say.

Routine syphilis screening in pregnant women aided by simple, rapid diagnostic test

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June 12th, 2012 - source: Science Codex

A simple and rapid test done near the patient that does not need laboratories, electricity, or highly trained staff (known as a point-of-care test, or POC) can effectively diagnose syphilis in pregnant women and has been adopted in six low- and middle-income countries thus preventing many stillbirths and deaths in newborn babies according to a report from international researchers published in this week's PLoS Medicine.

Early Prenatal Blood Test for Gestational Diabetes

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June 9th, 2012 - source: Medscape daily News

A blood test during the first trimester of pregnancy predicted gestational diabetes (GDM) with 92% accuracy, according to a new study. The work suggests that a simple blood test could be incorporated into prenatal care, possibly as early as the first prenatal visit.

GDM is associated with a greater risk for pregnancy complications and a higher risk of developing type 2 diabetes later in life.

The researchers tested a potential GDM assay that relies on serum glycoproteins, based on the hypothesis that hyperglycemia in GDM would increase hexosamine biosynthetic pathway flux, which in turn would alter the glycosylation of serum proteins.

Uterus tweak shields fetus from mother's immune attack

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June 8th, 2012 - source: New Scientist

It is one of the greatest mysteries of pregnancy: how a fetus avoids being attacked by its mother's immune system. Now a study in mice has taken us a step closer to an answer.

The mammalian body usually responds to foreign cells or tissue by releasing chemicals that promote inflammation and summon immune cells called T-cells to destroy the invaders. But during pregnancy, something turns off this process. This means that despite containing genetic material from the father, the embryo can implant in its mother's uterus and grow there safely without triggering an immune response.

The next steps are to figure out how implantation of the embryo triggers this gene silencing, and to see whether the same process occurs during human pregnancy. Assuming it does, the lead author of the study believes a similar process might explain how cancer manages to evade the immune system.

Pregnancy blood test can identify Down's syndrome

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June 7th, 2012 - source: New Scientist

TESTING whether a fetus has Down's syndrome is getting easier - and less risky. Several companies, all based in California, are launching tests that work on a pregnant woman's blood, rather than requiring an invasive procedure.

The tests are already proving controversial, with opponents of abortion concerned that more women will decide to terminate their pregnancy. "We oppose testing for the purpose of killing unborn children who are found to have disabilities," says Jessica Rodgers, spokeswoman for the National Right to Life Committee.

Brian Skotko, a Down's syndrome researcher at Boston Children's Hospital, says this isn't an unreasonable concern. The new tests will see prenatal diagnoses skyrocket, he says. "Unless the healthcare community ensures that these women receive accurate information about Down's syndrome, I think that a reasonable prediction is that fewer babies with the syndrome will be born."

Not only do the blood tests eliminate the risk of miscarriage, they are also claimed to have lower error rates than conventional tests.

Blood tests for fetal syndromes remove the risk of miscarriage (Image: Neil Bromhall/Science Photo Library)

Whole fetal genome sequenced before birth

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June 6, 2012 - source: New Scientist

The day when you can sequence your baby's genome before it is born might not be too far away. Researchers have reconstructed the genome of a fetus without touching it. Instead, they used both parents' genomes and free-floating fetal DNA, which circulates in the mother's blood.

Several companies already offer non-invasive prenatal tests for diseases caused by having extra copies of chromosomes, such as Down's syndrome, which is also known as trisomy 21 because it involves an extra copy of chromosome 21.

These tests are based on examining the fetal DNA that crosses the placenta, comprising up to 13 per cent of the free-floating DNA in the mother's blood plasma. The ideal screen would detect every genetic disease, some of which are caused by difficult-to-detect mutations.

"If the genome is a book, and a trisomy is an extra chapter, we want to find every typo," says Jay Shendure of the University of Washington in Seattle.

ASCO 2012- Circulating Breast Cancer Cells May Signal Trouble

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June 5th, 2012 - source: Lancet Oncology via Medpage

Tumor cells detected in the blood may be a bad sign for prognosis in chemo-naive, early-stage breast cancer, researchers found.

Finding even one circulating tumor cell at the time of surgery in women with nonmetastatic breast cancer correlated with more than four-fold risk of death or recurrence over 2 years of follow-up, according to a prospective study by Anthony Lucci, MD, of the MD Anderson Cancer Center in Houston, and colleagues.

That risk rose with the number of tumor cells detected in peripheral blood, they reported online in the Lancet Oncology.

Circulating tumor cells have proven prognostic in metastatic breast cancer in prior studies. These results support using the blood test in staging algorithms for nonmetastatic cases too, the group suggested.

"It's a minimally invasive way of getting additional information that could be very helpful," Lucci said in an interview at the American Society of Clinical Oncology meeting.

Primary source: The Lancet Oncology
Source reference:
Lucci, A, et al "Circulating tumour cells in non-metastatic breast cancer: A prospective study" Lancet Oncol 2012; DOI: 10.1016/S1470-2045(12)70209-7.

ASCO 2012: Gene Test Model May Help in NSCLC

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June 4th, 2012 - source: Medpage Today

A multicenter study in Germany might point the way to better access to personalized medicine for patients with non-small cell lung cancer, a researcher said here.

While clinical research has found several genetic variants that could guide therapy for the disease, access to testing for them is often restricted to patients treated in large academic centers, according to Thomas Zander, MD, of the University Hospital in Cologne, Germany.

To try to find ways around that, he and colleagues organized a network that offered centralized testing to small hospitals and private practitioners in the Cologne region, Zander told reporters at the annual meeting of the American Society of Clinical Oncology.

Lung adenocarcinoma tissue was screened for several gene variants, including ALK translocations, mutations in KRAS, EGFR, BRAF and PIK3CA and for amplification of ERBB2. Results, sent back to the doctors, were accompanied by treatment suggestions.

In the first 18 months the network was up and running, he said, it received 2,032 tissue samples -- representing about 60% to 70% of expected cases of non-small cell lung cancer in the region -- and was able to test some 80% of those.

"Our research shows that state-of-the-art personalized medicine is possible in community hospitals, and not just in advanced academic medical centers" Zander said.

Ultrasensitive Biosensor Detects Cancer

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June 4th, 2012 - source: Purdue University via Labmedica

An ultrasensitive biosensor has been created that could open up new opportunities for early detection of cancer and personalized medicine tailored to the specific biochemistry of individual patients.

The device, which could be several hundred times more sensitive than other biosensors, combines the attributes of two distinctly different types of sensors, a mechanical sensor, which identifies a biomolecule based on its mass or size, and an electrical sensor that identifies molecules based on their electrical charge.

Who needs professionals?

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June 1st, 2012 - source: Genome Web - daily scan

Author and New York Times Magazine contributing editor Jack Hitt has written a book called Bunch of Amateurs: A Search for the American Character, in which he talks about how important garage tinkerers and weekend innovators are in America, and how much they contributed to all facets of society. In an excerpt of the book published in Popular Science, Hitt says the next breakthrough in synthetic biology may come from an amateur scientist tinkering around in a garage. "Ever since Ben Franklin left Boston for Philadelphia, and continuing right up through when Mark Zuckerberg abandoned Harvard Square for Palo Alto, there has been this sense that a certain kind of creativity happens on the fly, often on the lam, after beginning in one of those proving grounds of American ingenuity: the dorm room, the weekend hobby club, the garage," Hitt writes. He describes San Francisco resident and DIY biologist Meredith Patterson, who shows Hitt her equipment made up of common household devices, takes him to a Trader Joe's where she gets some of her supplies, and gives him a demonstration of her work with green fluorescent protein.

Too much vitamin D can be as unhealthy as too little

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June 1st, 2012 - source: University of Copenhaguen

researchScientists know that Vitamin D deficiency is not healthy. However, new research from the University of Copenhagen now indicates that too high a level of the essential vitamin is not good either. The study is based on blood samples from 247,574 Copenhageners. The results have just been published in the reputed scientific Journal of Clinical Endocrinology and Metabolism.

Recommending Safeguards Against Misuse Of Genetic Data

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May 20, 2012 - source: Medical News Today

Rapid advancements in genetic disease research necessitate innovative safeguards for patients, according to new American Heart Association policy recommendations published in Circulation, an American Heart Association journal.

"Genetic testing provides a tremendous opportunity but also a challenge in being responsible with that information" one of the authors said. " If the information is available, how best do we use it to really improve care for individual patients? ".

Genomes show how staph bacteria gain resistance to last-line drug

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May 30, 2012 - source: Medical Laboratory Observer

National Institutes of Health-funded scientists have determined the genome sequences of a dozen strains of Staphylococcus aureus bacteria known to be resistant to vancomycin, an antibiotic of last resort. The researchers demonstrated that resistance arose independently in each strain and identified shared features among the strains that may have helped them acquire vancomycin resistance and evade human immune defenses.

Microfluidic chip developed to test for latent TB

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May 30, 2012 - source: Medical Laboratory Observer

Biomedical engineers at the University of California, Davis have developed a microfluidic chip to test for latent tuberculosis. They hope the test will be cheaper, faster, and more reliable than current testing for the disease. The team has already conducted testing of blood samples from patients in China and the United States.

New Clues About Cancer Cell Metabolism Emerge

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May 28, 2012 - source: Medical News Today

For almost a century, researchers have known that cancer cells have peculiar appetites, devouring glucose in ways that normal cells do not. But glucose uptake may tell only part of cancer's metabolic story. Researchers from the Broad Institute and Massachusetts General Hospital looked across 60 well-studied cancer cell lines, analyzing which of more than 200 metabolites were consumed or released by the fastest dividing cells. Their research yields the first large-scale atlas of cancer metabolism and points to a key role for the smallest amino acid, glycine, in cancer cell proliferation. Their results appear in the May 25 issue of the journal Science.

Epigenetic Assay Identifies Biopsy-Negative Prostate Cancer

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May 29, 2012 - source: Medscape

A multicenter study has confirmed the clinical utility of an epigenetic multiplex gene assay (ConfirmMDx, MDxHealth Inc.) in the identification of prostate cancer.

The assay correctly identified the presence of cancer in two thirds of patients with prostate cancer who had initial false-negative formalin-fixed paraffin-embedded (FFPE) biopsies, researchers found.

Grant D. Stewart, BSc, MB ChB, PhD, from the University of Edinburgh, Western General Hospital, in the United Kingdom, and colleagues presented the findings during a late-breaking oral podium poster session here at the American Urological Association 2012 Annual Scientific Meeting.

Markers Pinpoint Crohn's Relapse After Infliximab

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May 24, 2012 - source: Medpage News

In patients with Crohn's disease who were in remission following treatment with infliximab (Remicade), sudden elevations of two biomarkers predicted a relapse, a researcher reported here.

In patients who relapsed, during 18 months of follow-up there was a gradual increase in C-reactive protein (CRP) from a median baseline level of 2 mg/L, but a sudden and significant spike to 8 mg/L during the 4 months before clinical relapse (P<0.0001), according to Edouard Louis, MD, of the University of Liege in Belgium, and colleagues.

A similar increase was seen for calprotectin, which rose to 534 µg/g in relapsers from a median baseline level of 51 µg/g (P=0.0004), Louis reported at Digestive Disease Week.

Predicting Response To New Treatments In Colon Cancer

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May 22, 2012 - source: Nature Medicine via Medical News Today

Published in Nature Medicine, a work identifies biomarkers that predict response to treatment and proposes therapeutic solutions for patients who do not respond well. These advances will guide better selection of treatments and avoid the risk of administering ineffective drugs.

Over recent years new drugs have been designed to target and block the activity of certain molecules responsible for promoting tumor growth and metastasis. Some of these, which are currently in clinical trials, are showing promising results in certain patients, while others show no improvement at all.
The reason for this is explained by Dr Palmer: "If the patients treated with these inhibitors show very high levels of nuclear beta-catenin, FOXO3a cannot induce cell death but promotes the opposite effect by escaping treatment and causing metastasis."..."the identification of nuclear beta-catenin as a biomarker to predict response guides the selection of patients who will benefit from treatment with PI3K or AKT inhibitors and discard their use in candidates who would provoke an adverse response."


Breast Cancer Battle - More Genes Discovered

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May 21, 2012 - source: Nature via Medical News Today

Researchers have discovered nine new genes which are involved in the development of breast cancer, bringing the number of all genes so far associated with the development of breast cancer to 40, according to a study published in Nature.

The researchers analyzed all genes in the genomes of 100 breast cancer cases and discovered that there were different mutated cancer-causing genes in different samples of cancer, suggesting that breast cancer is genetically diverse.

According to one lead author : ""One of the most striking things about breast cancer is how it progresses differently in each patient and how each patient responds differently to therapy. Our results can help us to understand these differences."


New blood test works in real-time, simply by shining a light through the skin

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May 21, 2012 - source: Nanowerk

Blood tests convey vital medical information, but the sight of a needle often causes anxiety and results take time. A new device developed by a team of researchers in Israel, however, can reveal much the same information as a traditional blood test in real-time, simply by shining a light through the skin. This optical instrument, no bigger than a breadbox, is able to provide high-resolution images of blood coursing through our veins without the need for harsh and short-lived fluorescent dyes.
"We have invented a new optical microscope that can see individual blood cells as they flow inside our body," says Lior Golan, one of the authors.

By eliminating a long wait-time for blood test results, the new microscope might help spotlight warning signs, like high white blood cell count, before a patient develops severe medical problems. The portability of the device could also enable doctors in rural areas without easy access to medical labs to screen large populations for common blood disorders, Golan notes.

An in vivo image shows red blood cells within a microvessel. The area occupied by red blood cells in the images can be used to calculate the percent volume of red blood cells, a key measurement for many medical diagnoses. (© Biomedical Optics Express)

Study Finds Genetic Testing Not Leading to Increased Use of Healthcare Services

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May 17, 2012 - source: Genome Web

In spite of increased access to genetic testing, such tests do not drive up use of healthcare, according to a study published today in the early online edition of Genetics in Medicine.

The study looked at 1,599 continuously insured adults between the ages of 25 and 40 and offered them a multiplex genetic susceptibility test for eight common health conditions. Using electronic health records to compare how the survey subjects accessed healthcare services during a 12-month pre-test and 12-month post-test period, the study's authors found no statistical difference in how physician and/or medical testing was used in the post-test period among patients.

Study Highlights Potential of Sequencing-Based Method for Detecting Residual Leukemia after Treatment

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May 16, 2012 - source: Science Translational Medicine via Genome Web News

new Science Translational Medicine study suggests high-throughput sequencing is effective for finding post-treatment leukemia cells that can lead to patient relapse.

Researchers from Fred Hutchinson Cancer Research Center, the University of Washington, and elsewhere used high-throughput sequencing to test matched pre- and post-chemotherapy samples from 43 individuals with T-lineage acute lymphoblastic leukemia, looking at how well their high-throughput sequencing method detected lingering leukemia cells compared with flow cytometry.

Urine Dipstick Helps Predict Acute Kidney Injury

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May 15, 2012 - source: Medscape

A commonly used urine dipstick can predict acute kidney injury (AKI), according to findings presented here at the National Kidney Foundation (NKF) 2012 Spring Clinical Meetings.
After adjustment for confounders, researchers found that patients who developed dipstick proteinuria had more than double the risk of developing AKI in the first 72 hours of admission than those who did not (odds ratio [OR], 2.3, 95% confidence interval, 1.4 to 3.8).

"Dipstick proteinuria is a cheap, simple, rapid, noninvasive, and widely available diagnostic test that could serve as an early biomarker of AKI in critically ill septic patients" lead researcher said ...

Portable Diagnostics Designed to Be Shaken, Not Stirred

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May 9, 2012 - source: Science Daily

As medical researchers and engineers try to shrink diagnostics to fit in a person's pocket, one question is how to easily move and mix small samples of liquid. University of Washington researchers have built and patented a surface that, when shaken, moves drops along certain paths to conduct medical or environmental tests.

Four Bad Actors Cause Most Infection-Related Cancer

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May 8, 2012 - source: Medscape

Three types of viruses and 1 bacterium cause the vast majority of the new cases of cancer worldwide that are attributable to infections, according to a new study of global data.

The study found that in 2008 there were 12.7 million new cases of cancer worldwide, including 2 million that were related to infections. Helicobacter pylori, hepatitis B and C viruses (HBV and HCV), and human papillomaviruses (HPV) were responsible for 1.9 million of those infection-related cases.
Most of these new cases were gastric, liver, and cervix uteri cancers, according to study authors, who are from the International Agency for Research on Cancer in Lyon, France.
The study authors point out that the situation is largely remediable.

Their study is published online in the May 8 issue of Lancet Oncology.

Even at higher genetic heart risk, lifestyle helps

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May 3, 2012 - source: Reuters

It's no secret that healthy habits do your heart good. But a new study helps confirm that lifestyle also matters for people who have a genetically increased risk of heart problems.

The study, reported in the American Journal of Cardiology, focused on men who had at least one parent who'd had a heart attack before the age of 55. That's considered "premature" heart disease, and people whose mom or dad had it are also at higher-than-average risk themselves.

PCT Biomarker Assays Offer Rapid Detection of Sepsis

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May 2, 2012 - source: IVD Technology

Procalcitonin is an emerging biomarker in the diagnosis of severe bacterial infections and sepsis and is increasingly being used by clinicians to manage severely ill patients.

Physicians often prescribe antibiotics to suspected sepsis patients as a precaution even before an infection is confirmed through testing. Laboratory tests can be time-consuming, and the longer a diagnosis takes, the more antibiotics and fluids are given to a patient to stop a presumed infection. However, administering antibiotics in conditions that mimic sepsis but do not actually have an infectious component can be deleterious. Moreover, some researchers believe that the imprecise use of antibiotics can worsen sepsis as certain antibiotics increase the breakdown of bacteria and the release of toxins into a patient’s bloodstream. Using unnecessary antibiotics can also damage a patient’s kidney, liver, or other organs.
Research has identified procalcitonin (PCT) testing as a rapid and dependable diagnostic approach for hospitals and physicians to identify and treat sepsis patients.



Spotting Breast Cancer Risk Years Before It Occurs

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May 2, 2012 - source: Medical News Today

Scientists from Imperial College London say that women with very high levels of methylation in an area of a gene, known as ATM, had double the risk of going on to develop breast cancer, compared to those without the faulty gene.

Their study, which has been published in the journal Cancer Research, found that a woman's risk of breast cancer may be decided several years before the disease develops.

Study Highlights Diversity, Dynamics of Human Vaginal Microbiome

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May 2, 2012 - source: Science Translational Medicine via genome Web

The community of microbes found in the vagina varies dramatically over time in some women but remains relatively stable in others, according to a study appearing online today in Science Translational Medicine.

Drug-resistant bacteria go undetected

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April 27, 2012 - source: Nature

Poor training in use of tests allows ‘superbugs’ to evade surveillance.

Efforts to detect and halt the global spread of drug-resistant bacteria are being hindered by a poor understanding of the limitations of crucial laboratory tests. Because infected patients need to be isolated quickly to avoid spreading infections, the failure to identify antibiotic-resistant pathogens is increasing the risk of untreatable outbreaks, microbiologists argue.

A worrying viral pool discovered in bats

April 26, 2012 - source: Virology Institute of Bonn University, Germany

Tens of new viruses have been identified in bats representing a real threat for humans and mammals.
From where do the most dangerous viruses come from? How have they mutated?
A wide study covering over 10 000 animals among them 86 bats species and 33 rodents like made it possible to identify 60 new species of paramyxovirus. "These are as many nearly as the ones we already know..." said the author of the study Christian Drosten.

The study is available on Nature Communications (upon subscription only)

The Mindblowing (and Creepy) Implications of Artificial Intelligence in Medicine

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April 18, 2012 - source: MED Medical Engineering Design

More than a half century ago, mathematician Alan Turing reflected on the potential of artificial intelligence, eventually reaching the conclusion that computers would one day have intelligence rivalling that of our own.

So what does all of this have to do with medicine? A lot, potentially.

Breast Cancer Is 10 Diseases Says Landmark Study

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April 18, 2012 - source:Medical News Today

Breast cancer is at least 10 different diseases, each with its own genetic signature and pattern of weak spots, according to a new landmark study that promises to revolutionize diagnosis and prognosis, and pave the way for individualized, tailored treatment.

'Next-Gen' Vaccines May Result From Manipulating The Immune System

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April 10, 2012 - source: Medical News Today

The discovery of how a vital immune cell recognises dead and damaged body cells could modernise vaccine technology by 'tricking' cells into launching an immune response, leading to next-generation vaccines that are more specific, more effective and have fewer side-effects.

5 significant genetic associations identified for hypothyroidism

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April 9, 2012 - source: Biology News net

Using its unique online research platform, 23andMe, a leading personal genetics company, has found five significant genetic associations for hypothyroidism in the largest known genome-wide association study of hypothyroidism conducted to date. The details of the study are now available online in the journal PLoS ONE.

The Protein Survivin Could Be A Useful Biomarker For Pancreatic Cancer

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April 4, 2012 - source: Medical News Today

Pancreatic cancer kills more than 40,000 people every year, and among cancers it's particularly insidious. For 80 percent of patients, the disease is already so advanced at the time of diagnosis that treatment is unlikely to provide significantly life-extending benefits. For patients diagnosed with localized pancreatic cancer, the five-year survival rate remains barely above 20 percent, according to the National Cancer Institute. New research from scientists at Fox Chase Cancer Center in Philadelphia shows that a protein called survivin could be a useful tool in understanding pancreatic cancer - particularly for identifying which subsets of patients will most likely respond to treatment.

Study Hints at the Limits of Medical Genomics

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April 2, 2012 - source: Technology Review

A twins study sparks debate over the usefulness of medical genome sequencing.

On the steep slope of plummeting DNA sequencing costs rides the suggestion that whole-genome sequencing will soon be a part of the clinical experience for most patients. But researchers have now shown that deciphering the genetic code of most people would alert them to an increased risk for at least one of 24 common diseases, but fail to warn them about other diseases they will ultimately develop.