#Can mom s age help predict mitochondrial disease? The discovery of a aternal age effectfor mitochondrial diseases could be a valuable tool for genetic counseling, report researchers.
Their findings could be used to predict the accumulation of MITOCHONDRIAL DNA mutations in maternal egg cells, as well as the transmission of these mutations to children.
These mutations cause more than 200 diseases and contribute to others such as diabetes, cancer, Parkinson disease,
and Alzheimer disease. The study found greater rates of the MITOCHONDRIAL DNA variants in children born to older mothers,
and that contain their own DNA. any mitochondrial diseases affect more than one system in the human body,
They are devastating diseases and there is no cure, so our findings about their transmission are very important.
BLOOD AND CHEEK CELLS The research team set out to learn whether maternal age is important in the accumulation of MITOCHONDRIAL DNA (mtdna) mutations, both in the mother and in the child as a result of transmission.
Collaborating with Ian Paul, a pediatrician at the Penn State Milton S. Hershey Medical center they took samples of blood and of cells inside the cheek from 39 healthy mother-child pairs.
Studying healthy individuals gave the researchers a baseline for future studies of disease-causing mutations.
This finding is especially important for mothers who have a mitochondrial disease. For many mitochondrial diseases, 70 to 80 percent of molecules need to have the disease-causing variant for the disease to manifest itself.
But for others, only 10 percent of the mtdna molecules with the variant are needed to cause disease. f the bottleneck is very small,
as wee found in our study, these percentages can change dramatically, Makova says. nowing the size of the bottleneck allows us to predict, within a range,
the percentage of disease-carrying molecules that will be passed on to the child. Knowledge about both the maternal age effect and the bottleneck size is useful in family planning. e have some predictive power now
and can assist genetic counselors in advising couples about the chances of mitochondrial diseases being passed to the next generation,
Makova says. veryone is concerned about Down syndrome because that is a common genetic problem. We have added now another set of genetic disorders that also might be affected by the age of the mother.
It is good for couples to have this knowledge as they make family-planning decisions. The research appears in the early online edition of the Proceedings of the National Academy of Sciences.
#Why cancer researchers are excited about this amoeba A type of amoeba that lives in soil has a gene that is very similar to a tumor-fighting gene found in humans.
When it s healthy it stops tumors from growing. But the gene is prone to mutations
when researchers from the University of Iowa conducted a literature review they found that PTEN mutations show up in 40 percent of breast cancer cases up to 70 percent of prostate cancer cases and nearly half of all leukemia cases.
If you look at tumors across the boardâ and that doesn t mean just breast cancer or prostate cancerâ you find that PTEN is the most generally mutated gene.
And when you mutate PTEN in mice you cause tumors says David Soll biology professor
If the hypothesis holds true for human cells it could lead to a new way to treat cancer.
Once a patient is diagnosed with cancer caused by a PTEN mutation the patient could take the drug over-express the PTEN bench player gene
and potentially stop cancer in its tracks Soll says. That could save many cancer patients from undergoing chemotherapy and radiation treatment for breast and other common cancers.
The finding has led the team to study other human genes that may be able to step in for the mutated PTEN gene
and perform the same tumor-suppressing role. There are at least two close relatives of PTEN the researchers are currently studying.
Somewhere there may be a backup system what we call redundancy that might be the basis for better identifying tumors
and possibly creating cancer-fighting drugs. You have another gene which might be able to step in for the broken gene to keep things normal and that s
#Topical antibiotics may raise pneumonia risk University of Melbourne rightoriginal Studyposted by David Scott-Melbourne on October 13 2014patients in hospital intensive care units have a higher risk of developing pneumonia
The findings contradict previously published research that topical antibioticsâ##medication applied to the patient s airwayâ##would decrease pneumonia rates.
Ventilator-associated pneumonia develops in approximately 20 percent of patients in intensive care units (ICUS) who are receiving prolonged medical ventilation.
However in the control groups of these published clinical trials of topical antibiotics in this patient group the pneumonia rates were as high as 40 percent.
For a new study published in the journal CHEST researchers analyzed 206 international publications evaluating pneumonia prevention methods in ICUÂ##s from the last 30 years.
The new findings will help improve understanding of how to evaluate pneumonia prevention methods in the ICU says associate professor James Hurley from the University of Melbourne.
Use of topical antibiotics increases the pneumonia risk in ICU patients by disrupting the balance of bacteria
##This changed flora is spread around the ICU environment to other patients through cross-infection##Hurley says.##
##This surprising finding is not apparent in any one study examined in isolationâ##it requires a meta-analysis of the control group pneumonia rates in all 206 studies to demonstrate these findings.
Pneumonia is acquired commonly by ICU patients leads to longer stays in intensive care and can also increase mortality risk.##
###Therefore it appears topical antibiotics used in an effort to prevent pneumonia in the ICU are a hazard
Researchers studied roughlyâ#80000 households from 600 villages and found a 64 percent drop in mortality from diseases covered by insurance.
##The free insurance covered specific high-impact medical conditionsâ##such as heart disease and cancerâ ##which poor residents often die from
and public hospitals empaneled by VAS for below-the-poverty-line (BPL) families with little or no access to tertiary care;
and health camps in rural areas by empanelled hospitals which helped screen patients for tertiary care and transport them to hospitals in urban centers.##
##The results of this study are important to India as it makes choices on how to make progress towards universal health coverage##says Onno Ruhl World bank Group Country Director for India.##
##The program shows how purchasing health services for the poorest can both improve health and provide protection from impoverishment due to out-of-pocket payments for health care.##
##The study published in the journalâ#BMJ included more than 82000 households. Since the program was phased covering poor households in the northern part of Karnataka in the first phase before expanding to the rest of the state the study compared the health outcomes of roughly 45000 households from villages that were covered by the insurance to roughly 37000 households
but such disparities were eliminated completely in villages with insurance coverage##says Neeraj Sood professor and director of research at the Schaeffer Center for Health policy and Economics at University of Southern California.##
##Rates of early death and illness from chronic conditionsâ##such as heart disease and cancerâ##have increased dramatically in India in the past few decades putting the poor at high risk of not having access to services they need
and incurring payments for health care that push them deeper into poverty##says Patrick Mullen a World bank Group senior health specialist and the manager of the evaluation.
#Drug for parasitic worms fights diabetes in mice Rutgers rightoriginal Studyposted by Rob Forman-Rutgers on October 7 2014a modified form of a drug commonly used to eliminate intestinal parasites may hold the key to battling type
2 diabetes at its source. The Centers for Disease Control and Prevention projects that 40 percent of all Americans now alive will develop type 2 diabetes.
Type 2 is the form of diabetes once known as##adult onset##in which the body produces insulin that ordinarily would keep blood sugar under control
but either it does not produce enough insulin or the body s ability to use that insulin is degraded.
Researchers say it s important to find a suitable medication to correct the cause of the disease as quickly as possible
because the only way now known to##cure##the condition involves major gastric bypass surgery.##
##The surgery can only be performed on highly obese people##says Victor Shengkan Jin associate professor of pharmacology at Rutgers Robert Wood Johnson Medical school
and lead author of a new study published in the journal Nature Medicine ##and carries significant risks that include death
With nowhere else to go much of the excess glucose remains in the bloodstream where in high concentrations it can damage tissues throughout the bodyâ##potentially leading to blindness kidney damage cardiovascular diseases and other severe health problems.##
and ultimately reverse the diabetes entirely. That outcome is far from certain but Jin says the positive changes he saw in the mice are encouraging.
people of normal weight can develop fatty livers and type 2 diabetes. This kind of medication if shown to be effective could safely treat patients of all weights.
#These ignored cells might prevent osteoporosis Johns hopkins university rightoriginal Studyposted by Catherine Kolf-Johns Hopkins on October 7 2014a type of cell overlooked by scientists appears to play a critical role in preventing osteoporosis a condition that affects an estimated
It also explains the success of an experimental osteoporosis drug that has had promising results in clinical trials.
A summary of the new research conducted using mice with a bone condition similar to osteoporosis has been published in the journal Nature Medicine.##
##We didn t know that the drug affects preosteoclasts nor did we understand how important preosteoclasts are in maintaining healthy bones##says study leader Xu Cao professor of orthopedic surgery at the Johns hopkins university School of medicine.##
##Now drug companies hoping to reverse osteoporosis can look for even more drugs that make use of and target these interesting cells.##
But in women who have entered menopause decreases in estrogen can cause bone resorption to outpace bone rebuilding leading to osteoporosis and frequent bone breaks.##
##Most osteoporosis drugs on the market slow down bone resorption but do nothing to encourage bone rebuilding##Cao says.
##The National Institute of Diabetes and Digestive and Kidney Disorders the National Institute of Arthritis and Musculoskeletal and Skin diseases China s National Science Fund for Distinguished Young Scientists and Merck
#Stop cancer from spreading without chemo Stanford university rightoriginal Studyposted by Tom Abate-Stanford on October 6 2014 Researchers are testing a protein therapy that stops breast
and ovarian cancer from metastasizing in mice. The majority of patients who succumb to cancer fall prey to metastatic forms of the disease says Jennifer Cochran an associate professor of bioengineering at Stanford university.
Today doctors try to use chemotherapy to slow or stop cancer from spreading from the original tumor site to other parts of the body
but these treatments are unfortunately not very effective and have severe side effects. The new therapy doesn't have side effects.
It works by preventing two proteins Axl and Gas6 rom interacting to initiate the spread of cancer.
Axl proteins stand like bristles on the surface of cancer cells poised to receive biochemical signals from Gas6 proteins.
When two Gas6 proteins link with two Axls the signals that are generated enable cancer cells to leave the original tumor site migrate to other parts of the body and form new cancer nodules.
To stop this process Cochran used protein engineering to create a harmless version of Axl that acts like a decoy.
In collaboration with Amato Giaccia professor of radiation oncology the researchers gave intravenous treatments of this bioengineered decoy protein to mice with aggressive breast and ovarian cancers.
Mice with ovarian cancer had a 90 percent reduction in metastatic nodules when treated with the engineered decoy protein.
This is a very promising therapy that appears to be effective and nontoxic in preclinical experiments Giaccia says.
It could open up a new approach to cancer treatment. Giaccia and Cochran are scientific advisors to Ruga Corp. a biotech startup in Palo alto that has licensed this technology from Stanford.
Further preclinical and animal tests must be done before determining whether this therapy is safe and effective in humans.
Source: Stanford Universityyou are free to share this article under the Creative Commons Attribution-Noderivs 3. 0 Unported license e
#Why a deadly drug didn t hurt lab rat livers Scientists believe they ve solved the mystery of why a diabetes drug introduced in 1997 caused fatal liver failure in 63 patients.
In 1997 troglitazone was approved for use in the United states as one of the first drugs designed to treat type 2 diabetes.
In preclinical studies using rats there was no sign of danger to the liver. During human trials adverse effects from the drug were characterized as rare and relatively mild.
and the human trials weren t large enough for the true risk of liver injury to become apparent says Paul Watkins coauthor of the study and professor of medicine and pharmacy at University of North carolina.
In a simulated population the model successfully predicted that rare patients would develop life-threatening liver injury
The team s findings are published online in Clinical Pharmacology and Therapeutics. The simulation we used was able to predict the effects that were seen in patients who actually took troglitazone
The study shows that a computer model could accurately forecast the occurrence of troglitazone-induced liver injury.
Before DILISYM no one had been able to completely explain troglitazone liver injury or suggest improved approaches
It turns out that animals do a poor job predicting human drug-induced liver injury.
Drug-induced liver injury is the most common reason drug-development programs are terminated. It is also the leading cause of regulatory actions that lead to failed
Rare liver toxicity is now the major safety concern with new drugs and can often be detected only after many thousands of patients have received treatment Watkins says.
and reducing the costs of new medicines. The DILISYM software is the result of the DILI-sim Initiative a partnership between the Hamner-UNC Institute for Drug Safety Sciences
Kim Brouwer is chair of the Division of Pharmacotherapy and Experimental Therapeutics at the UNC Eshelman School of Pharmacy.
Funding for the study came from the National Institute of General Medical sciences. Source: UNC-Chapel Hil l
#Autism diagnosis catches up for kids in Tanzania Brown University rightoriginal Studyposted by David Orenstein-Brown on October 2 2014to diagnose autism in Tanzania researchers adapted several techniques
There is no autism diagnostic measure validated for use in Swahili a major language of the region.##
##Historically in Tanzania parents that have sought autism diagnoses had to go to other countries to receive those diagnoses##says Ashley Johnson Harrison a former postdoctoral fellow at Brown University who is now an assistant professor at University of Georgia. Researchers used the new
Using the diagnostic panel researchers were able to make diagnoses that consistently distinguished kids with autism spectrum disorder from those with other similar disorders.
because distinguishing between autism spectrum disorders and other conditions can ensure that children receive proper education
##Initially we only identified the most severe cases of autism##says Johnson Harrison who works under the mentorship of Eric Morrow in the department of psychiatry and human behavior at Brown.##
and Developmental Disabilities and was presented at a meeting of the International Meeting for Autism Research.
They used the Childhood Autism Rating Scale-Second Edition (CARS-2) to help rate child behavior because of the instrument s flexible usage guidelines.
or guardians information about autism and guidance on using behavioral strategies to improve child skills.
Of the children she tested 30 were diagnosed as having autism spectrum disorders and 11 as having other##global delay##conditions such as suspected intellectual disabilities Down syndrome or other disorders.
After returning to the United states Johnson Harrison tallied precise quantifications of the CARS-2 score
if her diagnostic assessment had produced reliable statistically significant differences between the autism and non-autism groups.
The average CARS-2 score for the autism group was 28 percent higher (at 37.75) than the average for the global delays group (at 27.15) a statistically significant difference.
In addition Tanzanian children diagnosed with autism scored in similar ranges on the CARS-2 as compared to children with autism in the United states. The autism group also had significantly more DSM-V autism symptoms than the global delays group suggesting that the assessment measures
were helpful in reliably eliciting the information needed to assess autism spectrum disorders. Johnson Harrison says she hopes that the assessment protocol
and humans a phase transition at the temperature of infection allows the DNA to change from a rigid crystalline structure into a fluid-like structure that facilitates infection.
and the Proceedings of the National Academy of Sciences (PNAS) provide a promising new target for antiviral therapies.
Such a therapy could be generalizable across all types of Herpes viruses and wouldn't be prone to developing resistance The exciting part of this is that the physical properties of packaged DNA play a very important role in the spread of a viral infection
and those properties are universal says Evilevitch an associate professor in Carnegie mellon s physics department. This could lead to a therapy that isn't linked to the virus gene sequence or protein structure
which would make developing resistance to the therapy highly unlikely. Most viruses whether they infect bacteria plants
or animals have fairly similar structures. They consist of an outer shell called a capsid that contains the viral genomeâ either DNA or RNA.
In the HSV-1 study which was published in Nature Chemical Biology Evilevitch set out to see what physical conditions lead to successful viral infection.
and mobility of the DNA inside a virus. The VIRAL DNA was much more fluid at temperatures close to that of infection (37 degrees Celsius)
They found that at the temperature of infection the phage s DNA underwent a solid-to-fluid-like disordering
which resulted in increased DNA mobility and subsequent cell infection. The Swedish Research Council the National Science Foundation the National institutes of health and the Mcwilliams Fellowship at Carnegie mellon supported the research published in Nature Chemical Biology.
The findings which appear in PLOS Pathogens provide knowledge that could help researchers treat the disease more effectively.
For years the conventional approach to target the dengue virus was through control of the vectorâ the mosquito that carries the disease from one host to another.
The elusive mechanics of the virus have hampered the development of effective treatments and vaccines. Typically when a virus enters the body
In 30 years of dengue-related research this new mechanism was discovered never according to senior author Professor Mariano Garcia-Blanco of the Program in Emerging Infectious diseases.
We not only found a new way in which the pathogen (dengue virus) interferes with the host response (human immune system) we also uncovered the first mechanistic insight into how this non-coding RNA works says Garcia-Blanco.
He believes that the latest discovery opens the door to exploring therapeutics through this channel.
and for dengue how the virus has managed to evade these defenses. The work also highlights the differences between the four dengue strains
and how more research is necessary to understand this highly complex virus. Source: National University of Singaporeyou are free to share this article under the Creative Commons Attribution-Noderivs 3. 0 Unported license n
#3, 600 crystals in wearable skin monitor health 24/7 A new wearable medical device that uses up to 3600 liquid crystals can quickly let you know
The technology and its relevance to basic medicine have been demonstrated in the study but additional testing is needed before it can be put to use.
With its 3600 liquid crystals the photonic device has 3600 temperature points providing sub-millimeter spatial resolution that is comparable to the infrared technology currently used in hospitals.
#DNA test could diagnose TB without the wait University of Warwick right Original Studyposted by Kelly Parkes-Harrison-Warwick on September 24 2014 A new approach quickly diagnoses tuberculosis by relying on direct sequencing of DNA
Laboratory diagnosis of TB using conventional approaches is a long drawn-out process which takes weeks
It is exciting to be involved in the development of new diagnostic approaches for this deadly disease says Martin Antonio head of the TB diagnostics laboratory at the Medical Research Council Unit in The gambia.
The researches have used shotgun metagenomics before to detect bacterial pathogens in contemporary and historical human material.
which causes an infection called brucellosis in livestock and humans from a 700-year-old skeleton from Sardinia Italy.
and hope it will help detect mixed infections caused by more than one kind of bacterium. But metagenomics is still some way from routine diagnostic use Pallen says.
and respond in a graduated way##says Wilbur Lam assistant professor in the pediatrics department at Emory University School of medicine and a physician in the Aflac Cancer and Blood disorders Center at Children s Healthcare of Atlanta.
The researchers findings could influence the design of medical devices because when platelets grab onto the surfaces of catheters
and medical implants they tend to form clots a major problem for patient care. Modifying the stiffness of materials used in these devices could reduce clot formation the authors suggest.
which are prescribed to millions to reduce the risk of heart attack or stroke. The team was able to separate physical and biochemical effects on platelet behavior by forming polymer gels with different degrees of stiffness
#At home test diagnoses anemia in 60 seconds A device that uses a single drop of blood can quickly diagnose anemia
The disposable self-testing device uses a chemical reagent that produces visible color changes corresponding to different levels of anemia.
By allowing rapid diagnosis and more convenient monitoring of patients with chronic anemia the device could help patients receive treatment before the disease becomes severe potentially heading off emergency room visits and hospitalizations.
Anemia which affects two billion people worldwide is diagnosed now and monitored using blood tests done with costly test equipment maintained in hospitals clinics or commercial laboratories.
Because of its simplicity and ability to deliver results without electricity the device could also be used in resource-poor nations.
Our goal is to get this device into patients'hands so they can diagnose and monitor anemia themselves says Wilbur Lam a physician in the Aflac Cancer and Blood disorders Center at Children's Healthcare of Atlanta and the department of pediatrics at Emory University School of medicine.
Patients could use this device in a way that's very similar to how diabetics use glucose-monitoring devices
but this will be even simpler because this is a visual-based test that doesn't require an additional electrical device to analyze the results adds Lam who is senior author of a paper published in the Journal of Clinical Investigation.
A patient sticks a finger with a lance similar to those used by diabetics to produce a droplet of blood.
what is required by other anemia tests says Erika Tyburski the paper's first author and leader of the undergraduate team that developed the device.
and the patient sees a color ranging from green-blue to red indicating the degree of anemia.
The team also plans to study how the test may be applied to specific diseases such as sickle cell anemia.
The FDA-funded Atlantic Pediatric Device Consortium the Georgia Research Alliance Children's Healthcare of Atlanta the Georgia Center of Innovation for Manufacturing and the Global Center for Medical Innovation
Using CT imaging researchers monitored the healing of a human rib that had been removed partially by a surgeon.
We believe that the development of this model in the mouse is important for making progress in the field of skeletal repair where an acute clinical need is present for ameliorating skeletal injury chronic osteoarthritis
and the severe problems associated with reconstructive surgery says team leader Francesca Mariani assistant professor of cell and neurobiology and principal investigator in the Eli and Edythe Broad Center for Regenerative medicine and Stem Cell Research at University
or using rib perichondrium-like cells for regenerative therapy. The lab received support for this study and future work from the NIH the Merck Investigator Studies Program and the USC Regenerative medicine Initiative Award.
By answering these questions we are accelerating the discovery of new regenerative therapies for the patients who need them the most.
Funding came from an Oral and Maxillofacial Surgery Foundation Research Award; the Baxter Medical Scholar Research Fellowship;
Additional coauthors contributed from USC and Children s Hospital Los angeles s
#Cells press down to make wounds heal faster National University of Singapore rightoriginal Studyposted by Karen Loh-NUS on September 12 2014scientists have uncovered more details about how our bodies repair wounds.
They say having a clearer idea of how the process works might help researchers develop drugs that speed up healing.
Earlier studies identified two processes at play in mending injury in the body. One involves the"purse-string"mechanism where a ring of proteins forms at the edge of a wound
and tightens like the strings of a purse. The second is"cell crawling"where cells move across the gap using armlike projections to close the gap.
At the early stages traction forces point away from the wound which suggests wound closure is driven initially by cell crawling.
At later stages the team observed forces pointing toward the wound. The investigators discovered a new mechanism
The contractions enable the cells to close the wound by cooperatively pressing down on the underlying tissue thus quickening the healing.
This study was conducted jointly with collaborators from the Institut de Bioenginyeria de Catalunya the Institute for Research in Biomedicine Universitat Polit cnica de Catalunya and Universitat de Barcelona in Barcelona Spain
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