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Saturday, 22 September 2012

Childhood Peers can Predict Adulthood Success

How successful you will be as an adult may best be predicted by your friends or peers from grade school, a new insight seems to suggest. 
The study began in 1976 with students in grades 1, 4, and 7 rating their peers in terms of their personality traits- popularity, aggressiveness and sociable qualities. Self evaluations were also sought.
The kids were tracked well into adulthood. Personality traits in adulthood – extent of openness, sociability, and conscientiousness were also measured. 

The study revealed that evaluations from the group of peers were closely associated with eventual adult outcomes as compared to their own personality perceptions from childhood. 
When kids were rated as socially withdrawn, such children portrayed less conscientiousness in later life. When students rated their peers as likeable, a better outcome was seen in adulthood. 
Peer-ratings were found to be agood prediction of success in adulthood, the study showed. 


 

Socioeconomic Status Linked to More Advanced Thyroid Cancer at Time of Diagnosis: Study

According to new data presented at the 82nd Annual Meeting of the American Thyroid Association, thyroid cancer among people with lower socioeconomic status is diagnosed at an advanced stage. 
"Socioeconomic status is an important health indicator for a number of cancers and other diseases. These new data shed light on yet another area-the time of thyroid cancer diagnoses-in which there is a need to close to gap on this disparity," said Elizabeth Pearce, MD, of the Boston Medical Center 
and Program Co-Chair of the ATA annual meeting.
 Though previous studies have suggested a higher rate of thyroid cancer in patients with a higher rate of health insurance and higher socioeconomic status, whether the stage of thyroid cancer at the time of diagnosis varies with socioeconomic status has heretofore been unknown. 
A team of researchers led by Stan Van Umm, MD, PhD, of the Schulich School of Medicine and Dentistry at the University of Western Ontario in London, Ontario, Canada, thus undertook a study to determine the relationship between socioeconomic status and thyroid cancer stage at the time of diagnosis. Using data from the South-Western Ontario from the Canadian Thyroid Cancer Consortium, a large thyroid cancer registry, researchers analyzed 1563 patients who presented between January 1998 and December 2010 with documented thyroid cancer. They determined patients'' thyroid cancer status, sex, and age at presentation, as well as their socioeconomic status based on Canadian Census of Population data for the years 1996, 2001, and 2006. 
Upon analysis, researchers found that a lower average household income is associated with a more advanced stage of thyroid cancer at diagnosis. In addition, they also noted that advanced age is also associated with more advanced stage at diagnosis. Finally, using a time-trend analysis, they found that the odds of being diagnosed at a more advanced stage decline by ~4% per year, suggesting that thyroid cancer is being diagnosed earlier over time. 
About the ATA Annual Meeting 

The 82nd Annual Meeting of the American Thyroid Association is held Sept.19-23, in Québec City, Québec, Canada. This four-day creative and innovative scientific program, chaired by Elizabeth Pearce, MD, Boston Medical Center, and Douglas Forrest, PhD, National Institute of Diabetes and Digestive and Kidney Diseases, carefully balances clinical and basic science sessions on the latest advances in thyroidology. The ATA meeting is designed to offer continuing education for endocrinologists, internists, surgeons, basic scientists, nuclear medicine scientists, pathologists, endocrine fellows and nurses, physician assistants and other health care professionals. 
About the ATA 

The American Thyroid Association (ATA) is the leading worldwide organization dedicated to the advancement, understanding, prevention, diagnosis and treatment of thyroid disorders and thyroid cancer. ATA is an international individual membership organization with over 1,600 members from 43 countries around the world. Celebrating its 89th anniversary, ATA delivers its mission through several key endeavors: the publication of highly regarded monthly journals, THYROID, Clinical Thyroidology and Clinical Thyroidology for Patients; annual scientific meetings; biennial clinical and research symposia; research grant programs for young investigators, support of online professional, public and patient educational programs through www.thyroid.org; and the development of guidelines for clinical management of thyroid disease. Visit www.thyroid.org for more information. 
Source-Newswise

 

Experimental Drug Improves Social Function in Fragile X Syndrome

An investigational compound is found to be effective in treating social withdrawal in fragile X syndrome and potentially the first for autism spectrum disorder, reveals study conducted by researchers at Rush University Medical Center and the University of California, Davis MIND Institute. 
The finding is the result of a clinical trial in adult and pediatric subjects with fragile X syndrome. It suggests, however, that the compound may have treatment implications for at least a portion of the growing population of individuals with autism spectrum disorder, as well as for those with other conditions defined by social deficits. The study is published online today in the journal Science Translational Medicine.There are no FDA-approved treatments for fragile X syndrome, and the available options help secondary symptoms but do not effectively address the core impairments in fragile X syndrome," said Dr. Elizabeth Berry-Kravis, the lead author of the article. "This is the first large-scale study that is based on the molecular understanding of fragile X syndrome and, importantly, suggests that the core symptoms may be amenable to pharmacologic treatment." Berry-Kravis is professor of Pediatrics, Neurological Sciences, and Biochemistry at Rush. 
The "first-in-patient" drug trial was led by Berry-Kravis and Dr. Randi Hagerman of the UC Davis MIND Institute. It examined the effects of the compound STX 209, also known by the name Arbaclofen. The study was conducted collaboratively with Seaside Theraputics, a Cambridge, Mass., pharmaceutical company, that is focused on translating bench research on fragile X and autism into therapeutic interventions. Seaside Therapeutics produces the compound. 
"This study shows that STX 209 is an important part of the treatment for fragile X syndrome, because it improved symptoms in those with significant social deficits or autism as well as fragile X syndrome," said Hagerman, who is the medical director of the MIND Institute. "Additional studies also are suggesting that STX 209 can be helpful for autism without fragile X syndrome. Until now, there have been no targeted treatments available for autism. This appears to be the first." 
Fragile X syndrome is the most common known cause of inherited intellectual impairment, formerly referred to as mental retardation, and the leading known single-gene cause of autism. Social impairment is one of the core deficits in both fragile X and autism. The U.S. Centers for Disease Control and Prevention (CDC) estimates that about 1 in 4,000 males and 1 in 6,000 to 8,000 females have the disorder. An estimated 1 in 88 children born today will be diagnosed with autism, according to the CDC. 
"This study will help to signal the beginning of a new era of targeted treatments for genetic disorders that have historically been regarded as beyond the reach of pharmacotherapy," Berry-Kravis said. "It will be a model for treatment of autism, intellectual disability and developmental brain disorders based on understanding of dysfunction in brain pathways, as opposed to empiric treatment of symptoms. We hope mechanistically-based treatments like STX209 ultimately will be shown to improve cognitive functioning in longer-term trials." 
Studies in mice genetically engineered to exhibit features of fragile X, including social impairment, have suggested that the behavioral abnormalities in fragile X result from deficiencies in the neurotransmitter gamma-amino butyric acid (GABA). Decreased GABA has been observed in a mouse model of fragile X in many areas of the brain including the hippocampus, and has been hypothesized to be a basis of the social anxiety and avoidance characteristic of fragile X sufferers, the study says. 
Arbaclofen is an agonist for gamma-amino butyric acid type B, or GABA-B, receptors. An agonist is a chemical that effectively combines with a receptor on a synapse to effect a physiologic reaction typical of a naturally occurring substance. Anxiety-driven repetitive behavior and social avoidance have been reduced in fragile X-engineered mice treated with arbaclofen. The current, first-of-its-kind study investigated whether Arbaclofen would produce similar results in human subjects. 
The double-blind, placebo-controlled clinical trial initially recruited 63 subjects at 12 sites across the United States for the research, conducted between December 2008 and March 2010. The participants ranged in age from 6 to 39 years. Of the initial participants, 56 completed the clinical trial. There were no withdrawals related to drug tolerability. The majority of the subjects were treated with what was assessed as the optimum tolerated dosage of the study drug, 10 milligrams twice a day in younger patients and three times a day in adults. Compliance was monitored by patient guardians, who filled out a dosing form on a daily basis. 

The study subjects returned for evaluations at two- and four-week intervals after beginning the six-week-long treatment. The drug then was tapered down over a one- to two-week period. After a week, the subjects entered a second treatment period. 
The effects of the medication were scored on variables of the Aberrant Behavior Checklist, a behavior-rating scale for the assessment of drug-treatment effects. The checklist includes variables for irritability, lethargy/withdrawal, stereotypic (repetitive) behavior and hyperactivity, among other factors. 
The study found improvement for the full study population on the social-avoidance subscale, an analysis validated by secondary ratings from parent observation of improvement in subjects' three most problematic behaviors. It found that the medication was the same as placebo, however, on the subscale for irritability. 

Source-Eurekalert

Cause of diabetes may be linked to iron transport


Scientists have been trying to explain the causes of diabetes for many years. Researchers at the University of Copenhagen and Novo Nordisk A/S have now shown that the increased activity of one particular iron-transport protein destroys insulin-producing beta cells. In addition, the new research shows that mice without this iron transporter are protected against developing diabetes. These results have just been published in the prestigious journal Cell Metabolism.
Almost 300,000 Danes have diabetes – 80 per cent have type-2 diabetes, a so-called lifestyle disease. The number of people with diabetes doubles every decade and the disease costs Danish society about DKK 86 million per day. People develop diabetes when the beta cells in their pancreas do not produce enough insulin to meet their body's needs. New research from the University of Copenhagen and Novo Nordisk A/S links this defect to one particular cellular iron transporter:
"Iron is a vital mineral for the healthy functioning of the body and is found in many enzymes and proteins, for example, the red blood pigment that transports oxygen. But iron can also promote the creation of toxic oxygen radicals. An increase in the iron content of the cells may cause tissue damage and disease. We find that increased activity of a certain iron transporter causes damage to the beta cell. And if we completely remove this iron transporter in the beta cells in genetically engineered mice, they are indeed protected against diabetes," explains Professor Thomas Mandrup-Poulsen, Department of Biomedical Sciences, The Faculty of Health and Medical Sciences.
Surplus iron increases diabetes risk
Together with Christina Ellervik, Associate Professor and Professors Børge Nordestgaard and Henrik Birgens from the University of Copenhagen, Thomas Mandrup-Poulsen has previously documented a connection between surplus iron and diabetes risk, based on large population studies. But this is the first time that scientists have found a link between inflammation and iron transport, which appears to be the underlying cause of the observed higher risk:
"We need to conduct controlled clinical trials showing that changes in the iron content of the body can reduce the risk of diabetes. Only then will we be able to advise people at risk of diabetes not to take iron supplements, or recommend drug treatment to reduce the amount of iron in the body," says Thomas Mandrup-Poulsen.
The evolutionary explanation
The team behind the scientific article in Cell Metabolism can see that the inflammatory signal substances created around the beta cells in both type-1 and type-2 diabetes accelerate the activity of the iron transporter.
"The evolutionary explanation of why the highly specialised beta cells are influenced by the inflammatory signal substances and contain the potentially dangerous iron transport proteins is presumably that the short-term increase in the amount of oxygen radicals is critical to the fine-tuning of insulin production during bouts of fever and stress. However, nature had not foreseen the long-term local production of signal substances around the beta cells, which we see in type-1 and type-2 diabetes," continues Thomas Mandrup-Poulsen.
The new results have implications for many scientists, not only those conducting research in diabetes. The beta cell can be used as a model for other cells that are particularly sensitive to iron, such as liver cells and cardiac-muscle cells.
Source:University of Copenhagen 

Friday, 21 September 2012

Dairy products won't make you skinny, evidence says


- Adding a couple of servings of milk or yogurt to your daily diet probably won't help you drop any pants sizes, according to a new analysis of past studies.Some research has suggested dairy products may help people feel full for longer, or that the calcium in milk and yogurt can prevent the build-up of fat tissue. But those remain unproven theories."The results are not very consistent," said Dr. Frank Hu, a nutrition researcher from the Harvard School of Public Health in Boston who worked on the new review."Overall, I think the evidence doesn't support the claim that dairy products are beneficial for weight loss," he said.Hu and his colleagues analyzed the results of 29 studies including a total of 2,101 participants, some of whom were randomly assigned to add extra dairy to their diets.The set-ups of those studies varied widely, with dairy intakes ranging from one to more than six servings per day and diet interventions lasting between one month and two years. Some studies put participants on a reduced-calorie diet to promote weight loss, while others did not.On average, people assigned to the extra-dairy groups lost 0.3 more pounds - about 0.14 kilograms - than the comparison group, a difference that could have been due to chance. They did lose slightly more body fat - about one extra pound worth.When the researchers broke down the results further, they found dairy products seemed to confer some benefit over the short term when they were part of a weight-loss diet. But otherwise, adding more milk, yogurt and cheese didn't help people lose weight or keep it off, Hu and his colleagues reported in the American Journal of Clinical Nutrition.Angelo Tremblay, an obesity researcher at Laval University in Quebec, Canada, said dairy products may still aid the weight-loss goals of people who aren't getting much milk or yogurt in their current diet."Many studies which are used to discuss the issue were performed in normal calcium consumers… and then it is not so much a surprise to see that there is no effect, or only a trivial effect," Tremblay, who wasn't involved in the new analysis, told Reuters Health."It is always the same story," he said. "If you wish to measure the effect of physical activity, in an already very active individual or active individuals you have more chance not to see any effect."Still, even in dairy-deficient people, adding a couple of extra milk or yogurt servings would only be expected to have a small impact on weight, Tremblay said.The U.S. Department of Agriculture recommends teens and adults get three cups of low-fat or fat-free milk or yogurt per day. According to guidelines, one cup of milk is also equivalent to one and a half ounces of natural cheese or two ounces of processed cheese.But that has to be incorporated into a generally healthy and balanced diet, researchers said."The bottom line is still energy balance," Hu told Reuters Health.For people hoping to control their weight, "I don't think it's a good idea to add dairy on top of their diet," he said. "If their baseline dairy is low, if they want to increase their dairy consumption, they have to reduce something else," such as sugar-sweetened drinks or less-healthy protein sources like processed meat.Making those healthier substitutions, Hu added, "may not have a direct benefit on body weight, but it certainly may have other health benefits."
SOURCE: http://bit.ly/P674Eq American Journal of Clinical Nutrition, online August 29, 2012.

Health Products Inspectorate Canada issues rules on Risk Classification of GMP Observation

Health Products and Food Branch Inspectorate of Canada has issued the guidelines on Risk Classification of Good Manufacturing Practices (GMP) Observations referred to as GUI-0023.
The scope of these guidelines is to classify the observations noted during establishment inspections according to their risk. It calls to ensure uniformity among the inspectors of the Health Products and Food Branch Inspectorate in the attribution of the rating following inspections. Besides it also informs the industry of the situations that the Inspectorate considers unacceptable and that will generate a Non-Compliant (NC) rating following an inspection.
During an establishment inspection, deviations from the Food and Drug Regulations and the current edition of the GMP guidelines 2009 Version 2 GUI 0001 were noted by the inspector and these deviations appear as observations in the inspection Exit Notice. A judgement based on these observations was made by the inspector and an overall recommendation was given.
These covered Compliant which is at the time of the inspection, the regulated party has demonstrated that the activities it conducts are in compliance with the Food and Drugs Act and its associated Regulations. Yet a ‘C’ rating does not mean that there are no observations or corrective actions required.
Non-Compliant or NC rating is provided if the regulated party has not demonstrated compliance with the Food and Drugs Act and its associated regulations. Attribution of a NC rating may have serious consequences for a company, ranging from the implementation of important corrective measures to the temporary suspension or termination of the Establishment License (EL), stated Health Canada.
The definition of a drug in Canada covers a wide variety of products including pharmaceuticals and biologics products. This guidance document covers these products to which Division 2 of Part C of the Food and Drug Regulations applies and is based on the current edition of the GMP.
It is recognized that the evaluation of the conformity to the GMP should be commensurate with the risk involved taking into account the nature and extent of the deviation in relation with the category of products evaluated. Nonetheless, most of the situations involving fraud, misrepresentation or falsification of products or data will generate a NC rating, irrespective of the category of products involved, said the regulatory authority.
It is impossible to encompass every situation that may generate a risk, but the industry should ensure that the risk assigned on the nature and number of occurrences. Generally, when only low risk products are involved, a risk 1 will not be assigned to observations except for extreme situations like fraud or widespread cross-contamination, infestation or unsanitary conditions.
Where a risk 2 observation is re-evaluated as a risk 1, this situation is immediately brought to the attention of the company’s officials. The industry will need to provide proper explanation which should be captured in the Inspection Reporting System (IRS).
A NC rating may also be assigned in situations when numerous Risk 2 observations are noted. Repetition of many Risk 2 and Risk 3 observations noted during previous inspections indicate that the company did not put in place adequate preventive actions in a timely manner to avoid recurrence of such deviations. Generally, a C rating is assigned when Risk 2 observations are noted and in all situations where only Risk 3 observations are noted during an inspection.
When a NC rating is assigned, the inspector will issue a draft inspection Exit Notice during the exit meeting.
Source:Pharmabiz

Yogurt consumption, blood pressure, and incident hypertension

Adding yoghurt to your diet cuts risk of hypertension (high blood pressure), states research published at the American Heart Association's High Blood Pressure Research 2012 Scientific Sessions. 
A recent study found long-term yogurt-eaters were less likely to develop high blood pressure and on average had lower systolic blood pressure than those who didn't eat yogurt. Systolic blood pressure is the top number in a blood pressure reading. It measures the force of blood against the walls of your arteries when your heart is beating.
During the 15 year study, researchers followed more than 2,000 volunteers who did not have high blood pressure at the start of the study. Yogurt consumption was measured by questionnaires filled out by the volunteers at three intervals over the study period. Study participants were 31 percent less likely to develop high blood pressure if at least 2 percent of their daily calories came from yogurt, which would be like eating at least one six-ounce cup of low-fat yogurt every three days. In addition, their systolic blood pressure increased less than that of people who didn't eat yogurt. 

Source- American Heart Association 

Evolution Involves Step-by-step Process, Say Researchers

The step-by-step process in which organisms evolve new functions has been documented by Michigan State University researchers. 
The results are revealed through an in-depth, genomics-based analysis that decodes how E. coli bacteria figured out how to supplement a traditional diet of glucose with an extra course of citrate."It's pretty nifty to see a new biological function evolve," said Zachary Blount, postdoctoral researcher in MSU's BEACON Center for the Study of Evolution in Action. 

"The first citrate-eaters were just barely able to grow on the citrate, but they got much better over time. We wanted to understand the changes that allowed the bacteria to evolve this new ability. We were lucky to have a system that allowed us to do so," the researcher noted. 
Normal E. coli can't digest citrate when oxygen is present. In fact, it's a distinct hallmark of E. coli. They can't eat citrate because E. coli doesn't express the right protein to absorb citrate molecules. 
To decipher the responsible mutations, Blount worked with Richard Lenski, MSU Hannah Distinguished Professor of Microbiology and Molecular Genetics. 
Lenski's long-term experiment, cultivating cultures of fast-growing E. coli, was launched in 1988 and has allowed him and his teammates to study more than more than 56,000 generations of bacterial evolution. 
The experiment demonstrates natural selection at work. And because samples are frozen and available for later study, when something new emerges scientists can go back to earlier generations to look for the steps that happened along the way. 
"We first saw the citrate-using bacteria around 33,000 generations. But Zack was able to show that some of the important mutations had already occurred before then by replaying evolution from different intermediate stages. He showed you could re-evolve the citrate-eaters, but only after some of the other pieces of the puzzle were in place," Lenski explained. 
In the study, Blount and his teammates analysed 29 genomes from different generations to find the mutational pieces of the puzzle. They uncovered a three-step process in which the bacteria developed this new ability. 
The first stage was potentiation, when the E. coli accumulated at least two mutations that set the stage for later events. The second step, actualization, is when the bacteria first began eating citrate, but only just barely nibbling at it. The final stage, refinement, involved mutations that greatly improved the initially weak function. This allowed the citrate eaters to wolf down their new food source and to become dominant in the population. 
"We were particularly excited about the actualization stage. The actual mutation involved is quite complex. It re-arranged part of the bacteria's DNA, making a new regulatory module that had not existed before. This new module causes the production of a protein that allows the bacteria to bring citrate into the cell when oxygen is present. That is a new trick for E. coli," Blount said. 
The change was far from normal, Lenski said. 
"It wasn't a typical mutation at all, where just one base-pair, one letter, in the genome is changed," he said. 
"Instead, part of the genome was copied so that two chunks of DNA were stitched together in a new way. One chunk encoded a protein to get citrate into the cell, and the other chunk caused that protein to be expressed," he added. 
The results are published in the current issue of Nature.
Source-ANI

 

Growing corn to treat rare disease


The seeds of greenhouse-grown corn could hold the key to treating a rare, life-threatening childhood genetic disease, according to researchers from Simon Fraser University. SFU biologist Allison Kermode and her team have been carrying out multidisciplinary research toward developing enzyme therapeutics for lysosomal storage diseases - rare, but devastating childhood genetic diseases – for more than a decade. In the most severe forms of these inherited diseases, untreated patients die in early childhood because of progressive damage to all organs of the body. Currently, enzyme treatments are available for only six of the more than 70 diverse types of lysosomal storage diseases. “In part because mammalian cell cultures have been the system of choice to produce these therapeutics, the enzymes are extremely costly to make, with treatments typically ranging from $300,000 to $500,000 per year for children, with even higher costs for adults,” says Kermode, noting the strain on healthcare budgets in Canada and other countries is becoming an issue. Greenhouse-grown maize may become a platform for making alpha-L-iduronidase, an enzyme used to treat the lysosomal storage disease known as mucopolysaccharidosis I, according to research published in this week’s Nature Communications. The findings could ultimately change how these enzyme therapeutics are made, and substantially reduce the costs of treating patients. The novel technology manipulates processes inside the maize seed that “traffick” messenger RNAs to certain parts of the cell as a means of controlling the subsequent sugar processing of the therapeutic protein. In this way, the researchers have been able to produce the enzyme drug in maize seeds. The product could ultimately be used as a disease therapeutic, although it is still “early days,” says Kermode, and several research goals remain to be accomplished before this can become a reality. Kermode says the success of the work underscores the power of multidisciplinary research that included contributions from SFU chemistry professor David Vocadlo, and from UBC Medical Genetics professor Lorne Clarke. It further underscores the importance of connections between SFU and Australia’s Griffith University, through collaborative researchers Mark von Itzstein and Thomas Haselhorst. “In 2005, we had the basis of our story worked out,” says Kermode. “Taking it to the next level involved their precise analyses to determine the sugar residues on the therapeutic enzyme produced by the modified maize seeds. “When we first looked at the sugar analysis data we were amazed at how well the ‘mRNA-trafficking strategy’ had worked, and the high fidelity of the process for controlling the sugar-processing of the therapeutic protein. This is critical as sugar processing influences the characteristics of a protein (enzyme) therapeutic, including its safety, quality, half-life in the bloodstream, and efficacy. The work could well extend to forming a platform for the production of other protein therapeutics.” Kermode also credits SFU research associate Xu He, the first author of the Nature Communications paper. Her funding sources included NSERC Strategic grants and a Michael Smith Foundation for Health Research Senior Scholar Award, and in related research, a Canadian Society for Mucopolysaccharide and Related Diseases grant. Simon Fraser University is Canada's top-ranked comprehensive university and one of the top 50 universities in the world under 50 years old. With campuses in Vancouver, Burnaby and Surrey, B.C., SFU engages actively with the community in its research and teaching, delivers almost 150 programs to more than 30,000 students, and has more than 120,000 alumni in 130 countries. 
Source:Simon Fraser University

Cell death discovery suggests new ways to protect female fertility


Melbourne researchers have identified a new way of protecting female fertility, offering hope to women whose fertility may be compromised by the side-effects of cancer therapy or by premature menopause.
The researchers, from the Walter and Eliza Hall Institute, Monash University and Prince Henry's Institute of Medical Research, made the discovery while investigating how egg cells die.
They found that two specific proteins, called PUMA and NOXA, cause the death of egg cells in the ovaries. The finding may lead to new strategies that protect women's fertility by blocking the activity of these two proteins.
Associate Professor Clare Scott from the Walter and Eliza Hall Institute said the research showed that when the DNA of egg cells is damaged following exposure to radiation or chemotherapy, such as that received during some cancer treatments, PUMA and NOXA trigger the death of the damaged eggs. This egg cell death causes many female cancer patients to become infertile.
"PUMA and NOXA can trigger cell death, and have been found to be necessary for the death of many different cell types in response to DNA damage," Associate Professor Scott, who is also an oncologist at The Royal Melbourne and Royal Women's Hospitals, said. "This removal of damaged cells is a natural process that is essential to maintaining health but, for women undergoing cancer treatment, can be devastating when it leads to infertility."
Associate Professor Scott, Dr Ewa Michalak and Professor Andreas Strasser from the Walter and Eliza Hall Institute, together with Associate Professor Jeffrey Kerr from Monash University, and Dr Karla Hutt and Professor Jock Findlay from Prince Henry's Institute of Medical Research, focused their studies on egg cells called primordial follicle oocytes, which provide each woman's lifetime supply of eggs. Low numbers of these egg cells can also be a cause of early menopause. Their findings are published online this week in the journal Molecular Cell.Associate Professor Jeff Kerr said that when these egg-producing cells were missing the PUMA protein, they did not die after being exposed to radiation therapy. "This might ordinarily be cause for concern because you want damaged egg cells to die so as not to produce abnormal offspring," he said. "To our great surprise we found that not only did the cells survive being irradiated, they were able to repair the DNA damage they had sustained and could be ovulated and fertilized, producing healthy offspring. When the cells were also missing the NOXA protein, there was even better protection against radiation."
"We were very excited to see healthy offspring could be produced from these cells," Associate Professor Scott said. "It means that in the future, medications that block the function of PUMA could be used to stop the death of egg cells in patients undergoing chemotherapy or radiotherapy. Our results suggest that this could maintain the fertility of these patients."
A joint leader of the study, Professor Jock Findlay, head of the Female Reproductive Biology Group at Prince Henry's Institute, said the study could also have implications for delaying menopause. "We know that the timing of menopause is influenced by how many egg cells a female has," he said. "Interventions that slow the loss of egg cells from the ovaries could delay premature menopause. As well as prolonging female fertility, such a treatment could have the potential to reduce menopause-associated health conditions, such as osteoporosis and heart disease."
Source:Walter and Eliza Hall Institute 

Simple ovarian cancer symptom survey that checks for 6 warning signs may improve early detection


 A simple three-question paper-and-pencil survey, given to women in the doctor's office in less than two minutes, can effectively identify those who are experiencing symptoms that may indicate ovarian cancer, according to a study by researchers at Fred Hutchinson Cancer Research Center. The study represents the first evaluation of an ovarian cancer symptom-screening tool in a primary care setting among normal-risk women as part of their routine medical-history assessment. The results are published online in the Open Journal of Obstetrics and Gynecology.
Early detection of ovarian cancer is key to survival. Cure rates for those diagnosed when the disease is confined to the ovary are approximately 70 percent to 90 percent. However, more than 70 percent of women with ovarian cancer are diagnosed with advanced-stage disease, when the survival rate is only 20 percent to 30 percent.
The researchers evaluated the effectiveness and feasibility of several different symptom screening surveys. After a few tweaks to formatting and content, the version that proved most effective contained three questions that asked whether a woman was currently experiencing one or more of the following symptoms, all of which have been identified previously as potentially indicative of ovarian cancer:
  • Abdominal and/or pelvic pain
  • Feeling full quickly and/or unable to eat normally
  • Abdominal bloating and/or increased abdomen size
The survey also asked about the frequency and duration of these symptoms: how many days a month and for how long?
"Symptoms such as pelvic pain and abdominal bloating may be a sign of ovarian cancer but they also can be caused by other conditions. What's important is to determine whether they are current, of recent onset and occur frequently," said lead author M. Robyn Andersen, Ph.D., a member of the Hutchinson Center's Public Health Sciences Division. Previous research by Andersen and colleagues has found that about 60 percent of women with early-stage ovarian cancer and 80 percent of women with advanced disease report symptoms that follow this distinctive pattern at the time of diagnosis.
"Women with symptoms that are frequent, continual and new to them in the past year should talk to their doctor, as they may be candidates for further evaluation with ultrasound and blood tests that measure markers of ovarian cancer such as CA-125," she said. "Recent research indicates that approximately one in 140 women with symptoms may have ovarian cancer. Aggressive follow-up of these symptoms can lead to diagnosis when ovarian cancer can be caught earlier and more effectively treated."
The study involved 1,200 women, age 40 to 87, who were seen in a Seattle women's health clinic. More than half of the study participants reported being postmenopausal and approximately 90 percent were white. About half of the clinic visits were for a current health concern or for follow-up of a health problem reported at an earlier visit. The other half were for routine appointments such as mammography screening.
Of those surveyed, 5 percent had a positive symptom score that indicated the need for further testing. Of this group of about 60 women, one was diagnosed with ovarian cancer shortly thereafter. Of the 95 percent of women who tested negative on the symptom survey, none developed ovarian cancer during a 12-month follow-up period, which attests to the accuracy of the screening tool.
Those who reported current symptoms on the questionnaire or reported other medical concerns scored higher than those who did not. Non-white women were also about twice as likely to receive a positive symptom score as compared to white women.
"If ovarian cancer screening using symptoms is widely adopted, maximizing the specificity of screening programs will be important," the authors wrote. "Until better biomarkers are identified and tested, collecting information about symptoms appears to have promise."
The bottom line, Andersen said, is that the screening tool can be used easily in a primary-care setting, is acceptable to patients and providers, and identifies women with symptoms that are worthy of concern with minimal false-positive results.
The study questionnaire that was tested in the clinic was based on a symptom-screening index developed in 2006 by Andersen and co-author Barbara Goff, M.D., professor and director of Gynecologic Oncology at the University of Washington School of Medicine.
Source:Fred Hutchinson Cancer Research Center 

Naked mole-rats may hold clues to pain relief


Naked mole-rats evolved to thrive in an acidic environment that other mammals, including humans, would find intolerable. Researchers at the University of Illinois at Chicago report new findings as to how these rodents have adapted to this environment.
The study was published online this week on PLOS ONE.
In the tightly crowded burrows of the African naked mole-rats' world, carbon dioxide builds up to levels that would be toxic for other mammals, and the air becomes highly acidic. These animals freely tolerate these unpleasant conditions, says Thomas Park, professor of biological sciences at UIC and principal investigator of the study -- which may offer clues to relieving pain in other animals and humans.
Much of the lingering pain of an injury, for example, is caused by acidification of the injured tissue, Park said.
"Acidification is an unavoidable side-effect of injury," he said. "Studying an animal that feels no pain from an acidified environment should lead to new ways of alleviating pain in humans."
In the nose of a mammal, specialized nerve fibers are activated by acidic fumes, stimulating the trigeminal nucleus, a collection of nerves in the brainstem, which in turn elicits physiological and behavioral responses that protect the animal -- it will secrete mucus and rub its nose, for example, and withdraw or avoid the acidic fumes.
The researchers placed naked mole-rats in a system of cages in which some areas contained air with acidic fumes. The animals were allowed to roam freely, and the time they spent in each area was tracked. Their behavior was compared to laboratory rats, mice, and a closely related mole-rat species that likes to live in comfy conditions, as experimental controls.
The naked mole-rats spent as much time exposing themselves to acidic fumes as they spent in fume-free areas, Park said. Each control species avoided the fumes.
The researchers were able to quantify the physiologic response to exposure to acidic fumes by measuring a protein, c-Fos, an indirect marker of nerve activity that is often expressed when nerve cells fire. In naked mole-rats, no such activity was found in the trigeminal nucleus when stimulated. In rats and mice, however, the trigeminal nucleus was highly activated.
The naked mole-rats' tolerance of acidic fumes is consistent with their adaptation to living underground in chronically acidic conditions, Park said.
Source:University of Illinois at Chicago 

Thursday, 20 September 2012

Nutrient in Eggs and Meat May Influence Gene Expression from Infancy to Adulthood


Just as women are advised to get plenty of folic acid around the time of conception and throughout early pregnancy, new research suggests another very similar nutrient may one day deserve a spot on the obstetrician’s list of recommendations.   
Consuming greater amounts of choline – a nutrient found in eggs and meat – during pregnancy may lower an infant’s vulnerability to stress-related illnesses, such as mental health disturbances, and chronic conditions, like hypertension, later in life In an early study in The FASEB Journal, nutrition scientists and obstetricians at Cornell University and the University of Rochester Medical Center found that higher-than-normal amounts of choline in the diet during pregnancy changed epigenetic markers – modifications on our DNA  that tell our genes to switch on or off, to go gangbusters or keep a low profile – in the fetus. While epigenetic markers don’t change our genes, they make a permanent imprint by dictating their fate: If a gene is not expressed – turned on – it’s as if it didn’t exist.The finding became particularly exciting when researchers discovered that the affected markers were those that regulated the hypothalamic-pituitary-adrenal or HPA axis, which controls virtually all hormone activity in the body, including the production of the hormone cortisol that reflects our response to stress and regulates our metabolism, among other things.More choline in the mother’s diet led to a more stable HPA axis and consequently less cortisol in the fetus. As with many aspects of our health, stability is a very good thing: Past research has shown that early exposure to high levels of cortisol, often a result of a mother’s anxiety or depression, can increase a baby’s lifelong risk of stress-related and metabolic disorders.“The study is important because it shows that a relatively simple nutrient can have significant effects in prenatal life, and that these effects likely continue to have a long-lasting influence on adult life,” said Eva K. Pressman, M.D., study author and director of the high-risk pregnancy program at theUniversity of Rochester Medical Center. “While our results won’t change practice at this point, the idea that maternal choline intake could essentially change fetal genetic expression into adulthood is quite novel.”Pressman, who advises pregnant women every day, says choline isn’t something people think a lot about because it is already present in many things we eat and there is usually no concern of choline deficiency. Though much more research has focused on folate – functionally very similar to choline and used to decrease the risk of neural tube defects like spina bifida – a few very compelling studies sparked her interest, including animal studies on the role of choline in mitigating fetal alcohol syndrome and changing outcomes in Down syndrome.A long-time collaborator with researchers at Cornell, Pressman joined a team led by Marie Caudill, Ph.D., R.D., professor in the Division of Nutritional Sciences at Cornell, in studying 26 pregnant women in their third trimester who were assigned to take 480 mg of choline per day, an amount slightly above the standard recommendation of 450 mg per day, or about double that amount, 930 mg per day. The choline was derived from the diet and from supplements and was consumed up until delivery.  The team found that higher maternal choline intake led to a greater amount of DNA methylation, a process in which methyl groups – one carbon atom linked to three hydrogen atoms – are added to our DNA. Choline is one of a handful of nutrients that provides methyl groups for this process. The addition of a single methyl group is all it takes to change an individual’s epigenome.Measurements of cord blood and samples from the placenta showed that increased choline, via the addition of methyl groups, altered epigenetic markers that govern cortisol-regulating genes. Higher choline lessened the expression of these genes, leading to 33 percent lower cortisol in the blood of babies whose mom’s consumed 930 mg per day.Study authors say the findings raise the exciting possibility that choline may be used therapeutically in cases where excess maternal stress from anxiety, depression or other prenatal conditions might make the fetal HPA axis more reactive and more likely to release greater-than-expected amounts of cortisol.While more research is needed, Caudill says that her message to pregnant women would be to consume a diet that includes choline rich foods such as eggs, lean meat, beans and cruciferous vegetables like broccoli.  For women who limit their consumption of animal products, which are richer sources of choline than plant foods, she adds that supplemental choline may be warranted as choline is generally absent in prenatal vitamin supplements.“One day we might prescribe choline in the same way we prescribe folate to all pregnant women,” notes Pressman, the James R. Woods Professor in the Department of Obstetrics and Gynecology. “It is cheap and has virtually no side effects at the doses provided in this study. In the future, we could use choline to do even more good than we are doing right now.”In addition to Pressman and Caudill, several scientists and clinicians from the Division of Nutritional Science and the Statistical Consulting Unit at Cornell and the Cayuga Medical Center in Ithaca, N. Y., participated in the research. The study was funded by the Egg Nutrition Center, the National Cattlemen’s Beef Association, the Nebraska Beef Council, the U.S. Department of Agriculture and the President’s Council of Cornell Women. The funding sources had no role in the study design, interpretation of the data, or publication of the results.
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Source:Universityof Rochester Medical Centre

A mother’s nutrition--before pregnancy--may alter the function of her children’s genes


New research in The FASEB Journal shows that diet induces epigenetic changes in female mice before pregnancy that are inherited by her pups

Bethesda, MD—Everyone knows that what mom eats when pregnant makes a huge difference in the health of her child. Now, new research in mice suggests that what she ate before pregnancy might be important too. According to a new research report published online in The FASEB Journal, what a group of female mice ate—before pregnancy—chemically altered their DNA and these changes were passed to her offspring. These DNA alterations, called "epigenetic" changes, drastically affected the pups' metabolism of many essential fatty acids. These results could have a profound impact on future research for diabetes, obesity, cancer, and immune disorders.
"As parents, we have to understand better that our responsibilities to our children are not only of a social, economical, or educational nature, but that our own biological status can contribute to the fate of our children, and this effect can be long-lasting," said Mihai Niculescu, M.D., Ph.D., study author from Nutrition Research Institute at the University of North Carolina at Chapel Hill, in Chapel Hill, N.C. "My hope is that, along with many other scientists, we will reveal this tight biological relationship between us as parents, and our children, and how we can improve the lives of our children using our own biological machinery."
To make this discovery, Niculescu and colleagues split mouse females into two groups before gestation, and fed them either a control diet, or a diet deficient in alpha-linolenic acid or ALA. This was achieved by replacing the type of fats in the diet, while keeping the number of calories the same. The females were bred with mouse males kept on a control diet. Immediately after the moms delivered the pups, each of these two initial groups were further split in two, so that each half of the initial groups received a flaxseed oil supplemented diet (rich in ALA), while the other halves from each group remained on the same diet. Researchers used blood and liver to look at polyunsaturated fatty acid (PUFA) levels and the DNA methylation of a gene called Fads2, which regulates PUFA metabolism. They found that in both the moms and pups, flaxseed oil induced a change in this chemical modification in the Fads2 gene. Flaxseed oil supplementation increased the methylation of this gene, which, in turn, decreased the activation of the gene in pups. However, flaxseed oil was not the only factor with impact upon Fads2 methylation in pups. Results demonstrated that regardless of the flaxseed oil intake, there was a correlation between the methylation of this gene in moms and in their pups, which suggested that pups also inherit this methylation from their moms. The pups' ability to transform PUFAs in their own livers was influenced by both the mother's dietary intake, and also by maternal Fads2 methylation status.
"New York City may be laughed at by some for banning large, sugary sodas and for encouraging a healthy diet," said Gerald Weissmann, M.D., Editor-in-Chief of The FASEB Journal, "This report shows that future generations might not find that funny at all. This report adds to the large body of evidence that an inappropriate diet can produce changes in the function of our DNA and the DNA of our children—a process called epigenetics. As we begin understand the effects of diet on epigenetics, New York may go from being considered a funny 'nanny-state' to becoming appreciated as a public health visionary."
Source:Federation of American Societies for Experimental Biology 

Yoga May Improve Lung Function


New research indicates that yoga may benefit lung function.Yoga is an ancient system of relaxation, exercise and healing that has origins in Indian philosophy. As a system of healing, it takes a primary approach of prevention, or keeping oneself well by the daily practice.Yoga has undergone much scientific study, with various psychological and physical theories suggested. In human research, yoga has been shown to reduce heart rate and blood pressure, increase breath holding time and lung capacity, improve muscle relaxation and body composition, cause weight loss and increase overall physical endurance.The recent study reviewed data from ten other studies that examined the effect of yoga on lung function. Researchers analyzed data on lung strength and how much air could be expelled in one breath.Researchers found that lung function improved after ten weeks of yoga practice. Participants who were less fit before the study and participants who practiced more breathing exercises showed the greatest improvement.
For more information about yoga, please visit Natural Standard's Health & Wellness database.
 References
  1. Abel, AN, Lloyd LK, Williams JS. The Effects of Regular Yoga Practice on Pulmonary Function in Healthy Individuals: A Literature Review. The Journal of Alternative and Complementary Medicine. doi:10.1089/acm.2011.0516.
  2. Natural Standard: The Authority on Integrative Medicine. www.naturalstandard.com

Mathematicians partner with IU Med School to explore more efficient treatments


Mathematical modeling being tested by researchers at the School of Science at Indiana University-Purdue University Indianapolis (IUPUI) and the IU School of Medicine has the potential to impact the knowledge and treatment of several diseases that continue to challenge scientists across the world.The National Science Foundation recently recognized the work led by Drs. Giovanna Guidoboni, associate professor of mathematics in the School of Science, and Alon Harris, professor of ophthalmology and director of clinical research at the Eugene and Marilyn Glick Eye Institute, for its new approach to understanding what actually causes debilitating diseases like glaucoma. Their research could translate to more efficient treatments for diseases like diabetes and hypertension as well.Glaucoma is the second-leading cause of blindness in the world, yet the only primary form of treatment is to reduce pressure in the patient’s eye.  However, as many as one-third of the glaucoma patients have no elevated eye pressure, and the current inability to better understand what risk factors led to the disease can hinder treatment options.Mathematical modeling, which creates an abstract model using mathematical language to describe the behavior of a system, allows doctors to better measure things like blood flow and oxygen levels in fine detail in the eye, the easiest human organ to study without invasive procedures. Models also can be used to estimate what cannot be measured directly, such as the pressure in the ocular vessels.Through simulations, the mathematical model can help doctors determine the cause and effect of reduced blood flow, cell death and ocular pressure and how those risk factors affect one another in the presence of glaucoma. A better understanding of these factors—and the ability to accurately measure their interaction—could greatly improve doctors’ ability to treat the root causes of disease, Harris said.
Comparison between numerical results and clinical dataMathematical modeling allows researchers to closely mirror patient data, which is helpful in determining the cause and effect of certain risk factors.  “This is a unique, fresh approach to research and treatment,” Harris said. “We’re talking about the ability to identify tailor-made treatments for individual patients for diseases that are multi-factorial and where it’s difficult to isolate the path and physicality of the disease.”
Harris and Guidoboni have worked together for the past 18 months on the project. Dr. Julia Arciero, assistant professor of mathematical sciences at IUPUI, is a principle investigator on the project as well with expertise in mathematical modeling of blood flow.The preliminary findings have been published in theBritish Journal of Ophthalmology and the research currently is under review in the Journal of Mathematical Biosciences and Engineering and theEuropean Journal of Ophthalmology. The NSF recognized their work on Aug. 30 with a three-year grant to continue their research.The pair also presented their findings at the 2012 annual meeting of the Association for Research in Vision and Ophthalmology (ARVO). Harris suggested that, out of the 12,000 ARVO participants, their group might have been the only research group to include mathematicians, which speaks highly of the cross-disciplinary collaboration occurring regularly at IUPUI.“We approached this as a pure math question, where you try to solve a certain problem with the data you have,” said Guidoboni, co-director of the School of Science Institute for Mathematical Modeling and Computational Science (iM2CS) at IUPUI, a research center dedicated to using modeling methods to solve problems in medicine, the environment and computer science.Guidoboni has expertise in applied mathematics. She also has a background in engineering, which she said helps her to approach medical research from a tactical standpoint where the data and feedback determine the model. She previously used modeling to better understand blood flow from the heart.Harris said the potential impact has created quite a stir in the ocular research community.“The response among our peers has been unheard of. The scientific community has been accepting of this new method and they are embracing it,” Harris added.The group will seek additional research funding through the National Institute of Health, The Glaucoma Foundation and other medical entities that might benefit from the research. The initial success of their collaboration should lead to more cross-disciplinary projects in the future, Guidoboni said.Also contributing are graduate students in mathematics, Lucia Carichino and Simone Cassani, and researchers in the department of ophthalmology, including Drs. Brent Siesky, Annahita Amireskandari and Leslie Tobe.
Source:IUPUI

Walking to the Beat Could Help Patients with Parkinson’s Disease


Walking to a beat could be useful for patients needing rehabilitation, according to a University of Pittsburgh study. The findings, highlighted in the August issue of PLOS One, demonstrate that researchers should further investigate the potential of auditory, visual, and tactile cues in the rehabilitation of patients suffering from illnesses like Parkinson’s Disease—a brain disorder leading to shaking (tremors) and difficulty walking.Ervin Sejdic, an assistant professor of engineering in Pitt’s Swanson School of EngineeringErvin Sejdic, an assistant professor of engineering in Pitt’s Swanson School of Engineering
Together with a team of collaborators from abroad, Ervin Sejdic, an assistant professor of engineering in Pitt’s Swanson School of Engineering, studied the effects of various metronomic stimuli (a mechanically produced beat) on fifteen healthy adults, ages 18 to 30. Walkers participated in two sessions consisting of five 15-minute trials in which the participants walked with different cues. 
In the first, participants walked at their preferred walking speed. Then, in subsequent trials, participants were asked to walk to a metronomic beat, produced by way of visuals, sound, or touch. Finally, participants were asked to walk with all three cues simultaneously, the pace of which was set to that of the first trial.
“We found that the auditory cue had the greatest influence on human gait, while the visual cues had no significant effect whatsoever,” said Sejdic. “This finding could be particularly helpful for patients with Parkinson’s Disease, for example, as auditory cues work very well in their rehabilitation.”
Sejdic said that with illnesses like Parkinson’s Disease, a big question is whether researchers can better understand the changes that come with this deterioration. Through their study, the Pitt team feels that visual cues could be considered as an alternative modality in rehabilitation and should be further explored in the laboratory. 
“Oftentimes, a patient with Parkinson’s Disease comes in for an exam, completes a gait assessment in the laboratory, and everything is great,” said Sejdic. “But then, the person leaves and falls down. Why? Because a laboratory is a strictly controlled environment. It’s flat, has few obstacles, and there aren’t any cues (like sound) around us. When we’re walking around our neighborhoods, however, there are sidewalks, as well as streetlights and people honking car horns: you have to process all of this information together. We are trying to create that real-life space in the laboratory.”
In the future, Sejdic and his team would like to conduct similar walking trials with patients with Parkinson’s Disease, to observe whether their gait is more or less stable. 
“Can we see the same trends that we observed in healthy people?” he said. “And, if we observe the same trends, then that would have direct connotations to rehabilitation processes.” 
Additionally, his team plans to explore the impact of music on runners and walkers.
Funding for this project was provided, in part, by the University of Pittsburgh, the University of Toronto, and Holland Bloorview Kids Rehabilitation Hospital.
Source:University pf Pittsburgh

Wednesday, 19 September 2012

Genomic Blueprint of Heart Could Help Combat Fatal Diseases

The precise order and timing of hundreds of genetic "switches" required to construct a fully functional heart from embryonic heart cells have been identified by scientists. 
In a study, researchers in the laboratory of Gladstone Senior Investigator Benoit Bruneau, PhD, employed stem cell technology, next-generation DNA sequencing and computing tools to piece together the instruction manual, or "genomic blueprint" for how a heart becomes a heart.
These findings offer renewed hope for combating life-threatening heart defects such as arrhythmias (irregular heart beat) and ventricular septal defects ("holes in the heart"). 

"Congenital heart defects are the most common type of birth defects-affecting more than 35,000 newborn babies in the United States each year," said Dr. Bruneau, who is the associate director of cardiovascular research at Gladstone, an independent and nonprofit biomedical-research organization. 
"But how these defects develop at the genetic level has been difficult to pinpoint because research has focused on a small set of genes. Here, we approach heart formation with a wide-angle lens by looking at the entirety of the genetic material that gives heart cells their unique identity," he noted. 
The news comes at a time of emerging importance for the biological process called "epigenetics," in which a non-genetic factor impacts a cell's genetic makeup early during development-but sometimes with longer-term consequences. 
All of the cells in an organism contain the same DNA, but the epigenetic instructions encoded in specific DNA sequences give the cell its identity. Epigenetics is of particular interest in heart formation, as the incorrect on-and-off switching of genes during fetal development can lead to congenital heart disease-some forms of which may not be apparent until adulthood. 
In this research-conducted in large part at Gladstone's Roddenberry Center for Stem Cell Biology and Medicine, as well as in collaboration with the laboratory of Laurie Boyer, PhD, at the Massachusetts Institute of Technology-the scientists took embryonic stem cells from mice and reprogrammed them into beating heart cells by mimicking embryonic development in a petri dish. 
Next, they extracted the DNA from developing and mature heart cells, using an advanced gene-sequencing technique called ChIP-seq that lets scientists "see" the epigenetic signatures written in the DNA. 
"But simply finding these signatures was only half the battle-we next had to decipher which aspects of heart formation they encoded," said Jeffrey Alexander, a Gladstone and UCSF graduate student and one of the paper's lead authors. 
"To do that, we harnessed the computing power of the Gladstone Bioinformatics Core. This allowed us to take the mountains of data collected from gene sequencing and organize it into a readable, meaningful blueprint for how a heart becomes a heart," he explained. 
The team made some unexpected discoveries. They found that groups of genes appear to work together in heart cells in a coordinated fashion-switching on and off as a group at designated times during embryonic development. The scientists not only identified a whole host of new genes involved in heart formation, but they also refined exactly how these newly discovered genes interact with previously known genes. 
The human-health implications of mapping the genomic blueprint of the heart are far reaching. Now that scientists understand how these genes control the heart, they can begin to piece together how heart disease disrupts this regulation. Eventually, they can look for therapies to prevent, interrupt or counteract those disruptions in children who suffer from congenital heart disease. 
"Our findings reveal new clues as to how complex genetic and epigenetic patterns are precisely regulated during heart formation," said Dr. Boyer. 
"In particular, our identification of key segments of the genome that contribute to this process will hopefully allow us to identify the genetic causes of many forms of congenital heart disease-an important first step in the fight against this devastating disease," he added. 
The study has been published online in the journal Cell.
Source-ANI


 

Emotional neglect in children linked to increased stroke risk later in life


The results from a new study by neurological researchers from the Rush Alzheimer's Disease Center at Rush University Medical Center suggest that people who were emotionally neglected as children may have a higher risk of stroke in later adulthood.
"Studies have shown that children who were neglected emotionally in childhood are at an increased risk of a slew of psychiatric disorders. However, our study is one of few that looked at an association between emotional neglect and stroke," said study author Robert S. Wilson, PhD, a neuropsychologist at Rush.
The findings are published in the September 19, online issue of Neurology, the medical journal of the American Academy of Neurology.
For the study, 1,040 participants in the Memory and Aging Project who did not have dementia and were 55 years of age or older took a survey measuring physical and emotional abuse before the age of 18. The retrospective survey questions focused on whether the participant felt loved by their parents or caregiver when they were younger, were made to feel afraid or intimidated and whether they were punished with a belt or other object. Questions about parental divorce and the family's financial needs were also included.
Over a period of three and a half years, 257 people in the study died, of which 192 had a brain autopsy to look for signs of stroke. Forty of the participants had evidence of a stroke based on their medical history or an examination. A total of 89 people had signs of a stroke based on the autopsy results.
The study found that the risk of stroke was nearly three times higher in those people who reported a moderately high level of childhood emotional neglect than those who reported a moderately low level. The results stayed the same after considering factors such as diabetes, physical activity, smoking, anxiety and heart problems.
"Interestingly, the autopsy showed emotional neglect was associated with the presence of cerebral infarctions," said Dr. David A. Bennett, director of the Rush Alzheimer's Disease Center and co-author of the study. "The results add to a growing body of evidence suggesting that early life factors such as traumatic childhood experiences influence the development of physical illness and common chronic conditions of old age."
Wilson noted that a limitation of the study is that neglect was reported from memory many years after occurrence, so participants may not have remembered events accurately.
Source:Rush University Medical Center 

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