#Melanoma in families linked to mutations in one gene The discovery that mutations in a specific gene are responsible for a hereditary form of melanoma could make it easier to detect and treat,
experts say. People with specific mutations in the POT1 gene, which protects the ends of our chromosomes from damage,
are extremely likely to develop melanoma, new research shows. These mutations deactivate the POT1 gene. his finding significantly increases our understanding of why some families have a high incidence of melanoma,
says Tim Bishop of the School of medicine at the University of Leeds and a senior co-author of the study published in Nature Genetics. ince this gene has previously been identified as a target for the development of new drugs, in the future,
it may be possible that early detection will facilitate better management of this disease. ith this discovery we should be able to determine who in a family is at risk,
and in turn, who should be screened regularly for early detection, adds David Adams, co-senior author from the Wellcome Trust Sanger Institute.
Known genetic mutations account for approximately 40 percent of all occurrences of inherited forms of melanoma. The team set out to identify the hereditary mutations that account for the other 60 percent by sequencing part of the genome of 184 patients with hereditary melanoma caused by unknown mutations.
They found that the inactivation of POT1 caused by these mutations leads to longer and potentially unprotected telomeres
regions that protect chromosomes from damage. The team found that there were also cases of other cancer types in families with these hereditary mutations such as leukemia
and brain tumors. ur research is making a real difference to understanding what causes melanoma and ultimately therefore how to prevent
and treat melanoma and is a prime example of how genomics can transform public health, says Julia Newton Bishop,
co-senior author from the University of Leeds. his study would not have been possible without the help
and patience from the families that suffer from these devastating, inherited forms of melanoma. Cancer Research UK and the Wellcome Trust Sanger Institute funded the work.
Source: University of Leed e
#To study bipolar disorder, start with skin Scientists investigating what makes a person vulnerable to bipolar disorder took skin cells from people with the condition
and ultimately turned them into neurons. The team then compared those neurons to cells taken from people without bipolar.
The comparison revealed very specific differences in how these neurons behave and communicate with each other,
and identified striking differences in how the neurons respond to lithium, the most common treatment for bipolar disorder.
The team used a type of stem cell called induced pluripotent stem cells, or ipscs.
By taking small samples of skin cells and exposing them to carefully controlled conditions the team coaxed them to turn into stem cells that held the potential to become any type of cell.
With further coaxing, the cells became neurons. his gives us a model that we can use to examine how cells behave as they develop into neurons.
Already, we see that cells from people with bipolar disorder are different in how often they express certain genes,
how they differentiate into neurons, how they communicate, and how they respond to lithium, says Sue Ohea,
a stem cell specialist at the University of Michigan who co-led the work. ee very excited about these findings.
But wee only just beginning to understand what we can do with these cells to help answer the many unanswered questions in bipolar disorder origins
and treatment, says Melvin Mcinnis, principal investigator of the Prechter Bipolar Research Fund and its programs. or instance,
we can now envision being able to test new drug candidates in these cells, to screen possible medications proactively instead of having to discover them fortuitously.
Ohea, a professor in the department of cell and developmental biology and director of the University of Michigan Pluripotent Stem Cell Research Lab,
and Mcinnis, a professor in the department of psychiatry, are co-senior authors of the new paper published in the journaltranslational Psychiatry.
Mcinnis, who sees firsthand the impact that bipolar disorder has on patients and the frustration they and their families feel about the lack of treatment options,
says the new research could take treatment of bipolar disorder into the era of personalized medicine. Not only could stem cell research help find new treatments,
it may also lead to a way to target treatment to each patient based on their specific profilend avoid the trial-and-error approach to treatment that leaves many patients with uncontrolled symptoms.
WHAT DIFFERENT ABOUT BIPOLAR NEURONS? The skin samples were used to derive the 42 ipsc lines.
When the team measured gene expression first in the stem cells, and then reevaluated the cells once they had become neurons,
very specific differences emerged between the cells derived from bipolar disorder patients and those without the condition.
Specifically, the bipolar neurons expressed more genes for membrane receptors and ion channels than non-bipolar cells,
the new findings support the idea that genetic differences expressed early during brain development may have a lot to do with the development of bipolar disorder symptomsnd other mental health conditions that arise later in life, especially in the teen and young adult years.
and receivednd the new cell lines will make it possible to study this effect specifically in bipolar disorder-specific cells.
the neurons made from bipolar disorder patients also differed in how they were ddressedduring development for delivery to certain areas of the brain.
This supports the emerging concept that bipolar disorder arises from a combination of genetic vulnerabilities. The researchers are already developing stem cell lines from other trial participants with bipolar disorder,
though it takes months to derive each line and obtain mature neurons that can be studied.
The Heinz C. Prechter Bipolar Research Fund, the Steven M. Schwartzberg Memorial Fund, and the Joshua Judson Stern Foundation supported the work u
#Take away this one gene and mice live long and lean By deleting a single gene,
and decrease longevity. t appears that if you reduce inflammation, this may reduce the growth of fat tissues
and therefore have a positive impact on longevity, says Allon Caanan, associate researcher in genetics at Yale university and co-lead author of the study.
Researchers were interested in using mice without the FAT10 gene to study its role in sepsis
a devastating and sometimes fatal inflammatory response to infection. FAT10 belongs to a family of genes that act as recyclers of cellular proteins
and was found to be induced by inflammation. Since older mice and humans are more susceptible to sepsis,
some mice were left to age. Surprisingly, mice lacking the FAT10 gene aged more slowly than normal mice
and protein sequences of the FAT10 gene are conserved highly between man and mouse. If it serves the same functions in humans
then this could be a potential target for new therapies, Canaan says. The immune system response that produces inflammation is crucial in warding off infections. hus it has short-term beneficial effects on survival
but for the long term we may pay a price in a sort of evolutionary tradeoff. Researchers from Stanford, Tufts University,
and in Israel contributed to the study, which was funded by the National institutes of health and reported in the Proceedings of the National Academy of Sciences y
#Math that predicts glucose paves way for artificial pancreas A mathematical model can predict with more than 90 percent accuracy the blood glucose levels of individuals with type 1 diabetes up to 30 minutes before a change in levels. any people
with type 1 diabetes use continuous glucose monitors, which examine the fluid underneath the skin,
says Peter Molenaar, a professor of human development and family studies and of psychology at Penn State. ut the glucose levels under the skin trail blood glucose levels from anywhere between 8 and 15 minutes.
This is especially problematic during sleep. Patients may become hypoglycemic well before the glucose monitor alarm tells them they are hypoglycemic
and that could lead to death. According to Molenaar, a person blood glucose levels fluctuate in response to his or her insulin dose, meal intake, physical activity, and emotional state.
or implantable automated insulin-delivery system consisting of a continuous glucose monitor, an insulin pump,
and a control algorithm closing the loop between glucose sensing and insulin delivery, he says. ut creating an artificial pancreas that delivers the right amount of insulin at the right times has been a challenge
because it is difficult to create a control algorithm that can handle the variability among individuals.
The team tested the accuracy of its model using an FDA-approved UVA/Padova simulator with 30 virtual patients and five living patients with type 1 diabetes.
The results appeared online in the Journal of Diabetes Science and Technology. DYNAMIC DEPENDENCIES e learned that the dynamic dependencies of blood glucose on insulin dose
professor of mechanical engineering. he high prediction fidelity of our model over 30-minute intervals allows for the execution of optimal control of fast-acting insulin dose in real time
if chemo kills liver cancer New 3d scans of liver cancer quickly show if chemotherapy is working,
precisely measuring living and dying tumor tissue, researchers report. The findings are the first roof of principlethat 3d MRI technology accurately measures tumor viability and death.
Researchers hope to prove that the technology, when used before and after chemotherapy, is faster and better than current tools for predicting patient survival.
Liver cancer kills nearly 20,000 Americans each year, and is much more prevalent outside the United states,
where it is among the top-three causes of cancer death in the world. ur high-precision 3d images of tumors provide better information to patients about
whether chemoembolization has started to kill their tumors so that physicians can make more well-informed treatment recommendations,
says Jean-Francois Geschwind, interventional radiologist at Johns hopkins university and the project senior scientist. A series of studies involved 140 patients with either primary liver cancers or metastatic tumors that were caused by cancers spreading from elsewhere in the body.
The patients underwent chemoembolization, chemotherapy aimed directly at a tumor. Dead and live tissue Unlike standard methods to assess tumor response, based on two-dimensional images and tumor size,
the 3d technology distinguishes between dead and live tissue, giving an accurate assessment of tumor cell death.
The new technology builds on standard two-dimensional imaging and uses computer analytics to evaluate the amount of so-called contrast dye absorbed by tumor tissue.
The dye is injected into patients before their MRI scan to enhance image production. Researchers say live tissue will absorb more dye than dead tissue, affecting image brightness,
which can also be measured for size and intensity. Geschwind, a professor of radiology, says that knowing the true extent of tumor response to chemoembolization is particularly important for patients with moderate to advanced disease,
whose liver tumors might initially be too large or too numerous to surgically remove. In the first study, researchers compared the standard imaging method and the newly developed technology in 17 Baltimore men and women with advanced liver cancer.
All were treated with surgery or liver transplantation after chemoembolization. Low error margin The research team used existing MR analysis techniques
as well as the new 3d method, to compare the radiologistsanalyses with pathologic review of tumor samples after therapy and surgical removal.
The error margin of the new 3d image analysis, they say, was low (at up to 10 percent)
when predicting the amount of dead tumor tissue found by pathologists. The standard 2d method deviated by as much as 40 percent from actual values.
In a series of additional studies, researchers used the standard and new imaging techniques to analyze the MRI scans of more than 300 liver tumors in some 123 other men and women
also from the Baltimore region. All patients were treated at Johns Hopkins Hospital between 2003 and 2012,
and each received pre-and post-chemoembolization MRI scans to assess the effects of therapy on the tumors.
The 3d technology improved accuracy removes a lot of the guesswork that now goes into evaluating treatment outcomes,
Geschwind says. The new assessment takes seconds to perform, he adds, so radiologists can provide almost instantaneous treatment advice.
Geschwind and colleagues plan further software refinements to the new approach before training more physicians to use it.
He also plans to study how it can affect treatment decisions and whether these therapy choices help people live longer.
The software used in the MRI scans was developed at Johns Hopkins and at Philips Research North america.
The findings were presented at a recent San diego meeting of the Society of Interventional Radiology. The french Society of Radiology, Philips Research North america, the National institutes of health,
and the Rolf W. Günther Foundation for Radiology and Radiological Sciences helped support the study.
Source: Johns Hopkin J
#Microbes could expand how doctors use ultrasound The addition of nanoscale organisms could potentially expand the range of medical conditions diagnosed with noninvasive ultrasound.
The technology opens the door to a variety of potential imaging applications where the nanometer size is advantageous,
such as labeling targets outside the bloodstream, detecting tumors, and monitoring the gastrointestinal system. To create the nanoscale organisms,
Mikhail Shapiro at the California Institute of technology and colleagues turned to nature for inspiration. The result is the first ultrasound imaging agent based on genetically encoded gas-containing structures.
Shapiro team utilized photosynthetic microorganisms that form gas nanostructures called as vesicles which the researchers discovered were excellent imaging agents for ultrasound,
with several unique properties making them especially useful in biomedical applications. BETTER THAN MICROBUBBLES Previously, most ultrasound imaging agents were based on small gas bubbles,
which ultrasound can detect because they have a different density than their surroundings and can resonate with sound waves.
Unfortunately, these icrobubblescould only be synthesized at sizes of several microns (or larger) because of their fundamental physics:
and could only image a limited number of biological targets. The researchers wanted to find another way of making gas-filled structures that could be nanoscale.
In particular, certain photosynthetic microorganisms regulate their buoyancy by forming protein-shelled gas nanostructures called as vesiclesinside the cell body.
These structures interact with gas in a way that is fundamentally different from microbubbles, allowing them to have nanometer size.
In this study, they discovered that gas vesicles are excellent imaging agents for ultrasound. The researchers showed that they were able to easily attach biomolecules to the gas vesicle surface to enable targeting.
In addition, because these structures are encoded as genes, they now have a chance to modify these genes to optimize gas vesiclesultrasound properties.
which vary in genetic sequence, exhibit different properties that can be used to, for example, distinguish them from each other in an ultrasound image.
The journal Nature Nanotechnology reported the team findings e
#Tiny circulator in phones could double bandwidth University of Texas at Austin rightoriginal Studyposted by Sandra Zaragoza-UT Austin on November 12 2014engineers have found a way to dramatically shrink a critical component of cellphones
and other wireless devices. A much smaller more efficient radio wave circulator has the potential to double the useful bandwidth in wireless communications by enabling full-duplex functionality#meaning devices can transmit
and receive signals on the same frequency band at the same time. The researchers did it by ditching the magnets. e are changing the paradigm with
We have built a circulator that does need not magnets or magnetic materialssays Andrea Alu an associate professor at the Cockrell School of engineering at the University of Texas at Austin.
and cost associated with using magnets and magnetic materials. Freed from a reliance on magnetic effects the new circulator has a much smaller footprint
The design is based on materials widely used in integrated circuits such as gold copper and silicon making it easier to integrate in the circuit boards of modern communication devices.
The researchers device works by mimicking the way magnetic materials break the symmetry in wave transmission between two points in space a critical function that allows magnetic circulators to selectively route radio waves.
With the new circulator the researchers accomplish the same effect but they replaced the magnetic bias with a traveling wave spinning around the device.
and a doctoral student in electrical and computer engineering. n doing so we may pave the way to simultaneous two-way communication in the same frequency band
which can free up chunks of bandwidth for more effective use. or telecommunications companies which pay for licenses to use frequencies allotted by the US Federal Communications Commission a more efficient use of the limited available bandwidth means significant cost advantages.
Additionally because the design of the circulator is scalable and capable of circuit integration it can potentially be placed in wireless devices. e envision micron-sized circulators embedded in cellphone technology.
When you consider cellphone traffic during high demand events such as a football game or a concert there are enormous implications opened by our technology including fewer dropped calls
and clearer communicationsestep says. The circulator also could benefit other industries that currently use magnetic-based circulators.
The Defense Threat Reduction Agency and the Air force Office of Scientific research supported the work which is described in the journal Nature Physics.
The new tree of life is dated the first evolutionary tree of this magnitude says coauthor Akito Kawahara assistant curator of Lepidoptera at the Florida Museum of Natural history at University of Florida. ntil now we didn t
and scientific research were included in the study such as agricultural pests vectors of disease and pollinators. This study provides a foundation for future study of insects.
For example if we want to understand the genetics of how silk is produced we must first understand how silk worms evolved over time
They are of immense ecological economic and medical importance and affect our daily lives from pollinating our crops to vectoring diseasessays lead author Bernhard Misof with the Zoological Research Museum Alexander Koenig in Bonn Germany. e can only start to understand the enormous species richness
and ecological importance of insects with a reliable reconstruction of how they are related. he study shows that insects originated at the same time as the earliest terrestrial plants about 480 million years ago suggesting both groups shaped the earliest land ecosystems.
Analysis of the tree shows insects developed wings 400 million years ago long before any other animal and at nearly the same time land plants grew substantially to form forests. he questions that surround this study
and use this information to more specifically target pest species or insects that affect our resourceshe says. he genomic data we studied (the transcriptome all of the expressed genes) gives us a very detailed and precise view into the genetic constitution
This new knowledge will significantly build the capability of evolutionary research as well as comparative biology since accurate measures of organismal relationships are fundamental to our interpretation of morphology genetics
and physiology to name a few. ust as the diversity of insects has always been a problem for scientists the project s goal of analyzing a large number of insect transcriptomes posed a major challenge
since software that could handle the enormous amount of data was not available. he development of novel software
and algorithms to handle ig datasuch as these is another notable accomplishment of the 1kite team
and lays a theoretical foundation for future analyses of other very large phylogenomic data setssays coauthor Alexis Stamatakis with the Heidelberg Institute of Theoretical Studies in Germany.
The evolutionary history of an organism orms the foundation for telling us the who what when and why of lifesays coauthor Karl Kjer of Rutgers University. any previously intractable questions are resolved now
but belongs to a different class of biochemical substances. Copsin is a protein whereas traditional antibiotics are often non-protein organic compounds.
The researchers led by Markus Aebi a mycology professor at ETH Zurich discovered the substance in the common inky cap mushroom Coprinopsis cinerea.
Copsin belongs to the group of defensins a class of small proteins produced by many organisms to combat microorganisms that cause disease.
The human body also produces defensins to protect itself against infections. They have been found for example on the skin and in the mucous membranes.
For Aebi the main focus of this research project was not primarily on applications for the new substance. hether copsin will one day be used as an antibiotic in medicine remains to be seen.
Why does this work for fungi while humans have been using antibiotics in medicine for just 70 years with many of them already becoming useless due to resistance?
ungi have internal instructions on how to use these substances without resulting in selection of resistant bacteria.
It was the biochemical properties of the substance that led the scientist to do so. opsin is an exceptionally stable proteinsays Essig.
The researchers were also able to unravel the exact mechanism of action discovering that copsin can bind to lipid II an essential building block for the cell wall of bacteria. uilding the cell wall is the Achilles heel of bacteriaexplains Essig.
In addition to being used as an antibiotic in medicine it may also be possible to use copsin in the food industry as well.
This is because copsin kills many pathogens including Listeria a type of bacteria that can cause severe food poisoning
Researchers from the University of Bonn collaborated on the study which was published in the Journal of Biological Chemistry l
#Laser probe knows if you ate your veggies Yale university rightoriginal Studyposted by Michael Greenwood-Yale on November 6 2014a diet full of fruits
and painlessly scan the skin of a subject s palm accurately measures changes in a biomarker known as skin carotenoids in response to an intervention involving a diet enriched in fruits and vegetables.
and other medical professionals measure and improve the diets of children and adults alike. here is great interest in the development of objective biomarkers of dietary intake especially biomarkers that can be measured noninvasivelysays coauthor Susan T. Mayne professor of epidemiology at Yale university
and a developer of the device. ur earlier studies demonstrated a correlation between skin carotenoids
and fruit and vegetable intake#this new paper demonstrates that the biomarker was sensitive to changes in fruit
and vegetable intake in the intervention setting. any diet interventions lack objective verification that subjects actually changed intake#this research demonstrates that skin carotenoids can serve that purpose. he RRS device works
by measuring changes in energy levels of electrons in molecules after the laser has excited them.
Then software on an attached laptop processes the results which takes another 30 seconds. Diets rich in fruit and vegetables have been linked to important health outcomes including reductions in cardiovascular disease type 2 diabetes and some forms of cancer.
But only 11 percent of the US population currently meets the daily recommendations for vegetable consumption
Brenda Cartmel a senior research scientist and lecturer at the Yale School of Public health is a co-author of the paper along with researchers from the USDA/Agricultural research service Grand Forks Human nutrition Research center and the University of Utah.
#dgy films are perfect catalysts for fuel cells Chemists have found an easy and inexpensive way to create flexible films from molybdenum disulfide a versatile chemical compound with edges that are highly efficient catalysts.
and as catalysts for hydrogen evolution reaction (HER) a process used in fuel cells to pull hydrogen from water.
Molybdenum disulfide isn t quite as flat as graphene the atom-thick form of pure carbon
This crystal structure creates a more robust edge and the more edge the better for catalytic reactions
or storage says James Tour a chemistry professor at Rice university. o much of chemistry occurs at the edges of materialstour says. two-dimensional material is like a sheet of paper:
But our material is highly porous. hat we see in the images are short 5-to 6-nanometer planes
but traditionally employed to thicken natural oxide layers on metals. The film was exposed then to sulfur vapor at 300 degrees Celsius (572 degrees Fahrenheit) for one hour.
The films can also serve as supercapacitors which store energy quickly as static charge and release it in a burst.
Though they don t store as much energy as an electrochemical battery they have long lifespans and are in wide use
because they can deliver far more power than a battery. The researchers built supercapacitors with the films;
in tests they retained 90 percent of their capacity after 10000 charge-discharge cycles and 83 percent after 20000 cycles. e see anodization as a route to materials for multiple platforms in the next generation of alternative energy devicestour says. hese could be fuel cells supercapacitors and batteries.
And we ve demonstrated two of those three are possible with this new material. he research appears in the journal Advanced Materials
and was supported by the Smalley Institute for Nanoscale Science and Technology at Rice and the Air force Office of Scientific research Multidisciplinary University Research program i
#Toss time capsule into stream to detect chemicals Stanford university rightoriginal Studyposted by Tom Abate-Stanford on November 5 2014a new inexpensive sensor can record
when chemicals appear in water and in what concentration#all without electronics. The device could be used to detect unknown sources of contaminations in streams.
Sindy K. Y. Tang an assistant professor of mechanical engineering at Stanford university describes what she calls her ime capsule technologyin the journal Lab on a Chip.
The time capsule captures a visible record of chemical reactions like a barcode that can be scanned to reveal
when the reaction occurred and how much of a specific chemical was present. e record the forensic history of chemical reactionstang says.
or electrical parts it uses no electricity and requires no batteries. That feature allows Tang to make devices that are smaller and cheaper than current sensors.
Now she plans to make her prototype smaller and extend the range of reactions it can record to open up new uses such as studying geothermal
or petroleum reservoirs deep underground#places where pressure and temperature could destroy conventional electronic sensors.
The prototype time capsule is made of clear plastic and is about the size of a pinkie.
Inside this device are two tiny tubes each filled with a carefully chosen gel. Two tubes with different properties are needed to capture the information needed for discerning both the timing of reactions and the concentration of chemicals present.
The other end of each tube is open to the environment allowing chemicals dissolved in the water to seep into the capsule.
and leave a time stamp on the capsule. Based on the flow rate of the stream and the diffusion rate of the timing chemical engineers would be able to estimate where along the streambed the capsule first encountered the contaminant.
Ultimately she would like to make chemical sensors the size of the period in this sentence and use them to map chemical and physical environments deep underground. he capsules would have to be small enough to fit through the cracks in rock layers
and robust enough to survive the heat pressure and harsh chemical environment below groundtang says.
In addition to making the time capsule technology smaller the engineers also plan to experiment with different gels
and timer chemicals to increase the variety of reactions that they can record. lthough the work is still at an early stage we showed for the first time that it is possible to use chemical diffusion to record information about the time chemical reactions occurred without the need for external powertang says.
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