Research – Highlight HEALTH Discover the Science of Health Wed, 01 Nov 2017 19:47:26 +0000 en-US hourly 1 Early-phase Trial Demonstrates Shrinkage in Pediatric Neural Tumors Fri, 30 Dec 2016 17:14:36 +0000 Early-phase trial demonstrates shrinkage in pediatric neural tumorsIn an early-phase clinical trial of a new oral drug, selumetinib, children with the common genetic disorder neurofibromatosis type 1 (NF1) and plexiform neurofibromas, tumors of the peripheral nerves, tolerated selumetinib and, in most cases, responded to it with tumor shrinkage. NF1 affects 1 in 3,000 people. The study results appeared Dec. 29, 2016, in]]> Early-phase trial demonstrates shrinkage in pediatric neural tumors

In an early-phase clinical trial of a new oral drug, selumetinib, children with the common genetic disorder neurofibromatosis type 1 (NF1) and plexiform neurofibromas, tumors of the peripheral nerves, tolerated selumetinib and, in most cases, responded to it with tumor shrinkage. NF1 affects 1 in 3,000 people. The study results appeared Dec. 29, 2016, in the New England Journal of Medicine [1].

Early-phase trial demonstrates shrinkage in pediatric neural tumors

The multicenter phase I clinical trial, which included 24 patients, was led by Brigitte C. Widemann, M.D., acting chief of the National Cancer Institute’s (NCI) Pediatric Oncology Branch, and was sponsored by NCI’s Cancer Therapy Evaluation Program. The study, conducted at the NIH Clinical Center and three participating sites, took advantage of techniques developed by Dr. Widemann’s team that enabled very precise measurement of the plexiform neurofibromas. Experiments in mice that developed neurofibromas due to genetic modifications were performed at Cincinnati Children’s Hospital in the laboratory of Nancy Ratner, Ph.D. NCI is part of the National Institutes of Health.

Just stopping the growth of these devastating tumors is an important achievement. The difference we see in these patients is truly unprecedented.

Plexiform neurofibromas develop in up to 50 percent of people with NF1. The majority of these tumors, which can cause significant pain, disability, and disfigurement, are diagnosed in early childhood and grow most rapidly prior to adolescence. Complete surgical removal of the tumors is rarely feasible, and incompletely resected tumors tend to grow back.

The primary aim of this clinical trial was to evaluate the toxicity and safety of selumetinib in patients with NF1 and inoperable plexiform neurofibromas, and, encouragingly, most of the selumetinib-related toxic effects were mild. At present, no therapies are considered effective for NF1-related large plexiform neurofibromas, but, in this trial, partial responses, meaning 20 percent or more reduction in tumor volume, were observed in over 70 percent of the patients.

Responses were observed in tumors that were previously growing at a rate of greater than 20 percent per year, as well as in non-progressing lesions. Tumor shrinkage was maintained long term, for approximately two years, and, as of early 2016, no disease progression had been observed in any trial participant. Additionally, anecdotal evidence of clinical improvement, such as a decrease in tumor-related pain, improvement in motor function, and decreased disfigurement, was reported.

Dr. Widemann said:

Some may say that a 20 percent volume reduction is too small to be meaningful, but to me, just stopping the growth of these devastating tumors is an important achievement. The difference we see in these patients is truly unprecedented.

The disease-causing gene for NF1 was first identified in 1990 by two independent teams, one of them led by NIH Director Francis S. Collins, Ph.D., M.D., who at the time was chief of Medical Genetics at the University of Michigan. The other team was led by Ray White at the University of Utah. Research to understand the gene’s function revealed that deregulation of the RAS signaling pathway was the most likely cause of tumor development. Numerous drugs that target RAS-related signaling pathways have been tested in patients with NF1 in phase I and phase II clinical trials, with disappointing results, hence the interest in selumetinib.

Selumetinib, provided for the study by AstraZeneca, is a selective inhibitor of the MEK protein, a part of the complex network of RAS signaling pathways. The drug has demonstrated activity in some advanced cancers, but it is not yet approved by the U.S. Food and Drug Administration for use in the United States. It is manufactured in capsule form to be taken orally.

Trial enrollment began in September 2011 and 24 children (11 girls, 13 boys) participated. Twice daily doses of the medicine were taken continuously, over a median of 30 month-long treatment cycles. The majority of patients are still continuing with therapy, some for as long as five years, and the long-term treatment has had no observed adverse effect on their development or overall health.

Experiments in mice with similar neurofibromas confirmed the inhibition of the MEK protein function in the tumors. Inhibition of the MEK protein diminished as early as two hours after drug administration. In addition, the animals received treatment with regular interruptions and still demonstrated tumor responses. This indicates that even limited MEK inhibition could cause tumor shrinkage in this disease.

Dr. Widemann said:

In the future, we may wish to look at intermittent dosing in patients to minimize toxicity and retain maximal outcomes.

In some patients, a loss of response to selumetinib with slow regrowth of tumors was observed, particularly after dose reductions. The researchers believe that additional studies are warranted to characterize tumors that no longer respond to selumetinib. NCI is currently sponsoring an ongoing phase II trial of the drug for adults with NF1, in which serial tissue samples are being obtained. This study should provide information about possible mechanisms of resistance to selumetinib.

In addition, a larger phase II pediatric trial is enrolling patients and should help establish the efficacy of selumetinib treatment in children. In this trial, in addition to tumor volume measurements, evaluations are being performed to assess the effect of selumetinib on plexiform neurofibroma related disfigurement, pain, quality of life, and function.

This research was supported by NCI’s Center for Cancer Research and the Cancer Therapy Evaluation Program; by the Children’s Tumor Foundation to Michael Fisher to support participating sites other than the NCI; by AstraZeneca providing selumetinib and funding for the pharmacokinetic analysis; and by grants from the Children’s Tumor Foundation and the Neurofibromatosis Therapeutic Acceleration Program (to Dr. Ratner for the mouse preclinical trials).

Source: NIH News


  1. Dombi et al. Activity of Selumetinib in Neurofibromatosis Type 1–Related Plexiform Neurofibromas. N Engl J Med. 2016 Dec 29;375(26):2550-2560. doi: 10.1056/NEJMoa1605943.
    View abstract
Long-term Depression Elevates Stroke Risk in Older Adults Thu, 25 Jun 2015 02:23:06 +0000 A Harvard University study has found that long-term depression in people over 50 could more than double their risk of having a stroke.]]>

A Harvard University study has found that long-term depression in people over 50 could more than double their risk of having a stroke. The risk remains significantly high even after the depression eases.

Long term depression in 50s increases risk of stroke

The study, published in the Journal of the American Heart Association, is the first to evaluate how changes in depressive symptoms predict changes in stroke risk [1].

The study reviewed health information from over 16,000 men and women ages 50 and older participating in the Health and Retirement Study between 1998 and 2010. Every two years participants were interviewed about a variety of health measures, including depressive symptoms, history of stroke, and risk factors for stroke. During the study period, 7% of participants had a stroke (1,192 occurences).

Researchers found that people with high depressive symptoms at two consecutive interviews had a 114% higher risk of suffering a first stroke, compared with people without depression at either interview. Those who had depressive symptoms at one interview but not at the next had a 66% higher risk.

The study’s lead author, Paola Gilsanz, from Harvard University’s TH Chan School of Public Health, said [2]:

Our findings suggest that depression may increase stroke risk over the long term. Looking at how changes in depressive symptoms over time may be associated with strokes allowed us to see if the risk of stroke increases after elevated depressive symptoms start or if risk goes away when depressive symptoms do. We were surprised that changes in depressive symptoms seem to take more than two years to protect against or elevate stroke risk.

The scientists did not evaluate whether depressive symptoms diminished due to treatment. However, their findings suggest that even if treatment is effective, there may still be long-term impact on stroke risk. The authors say that their work, together with previous research, points to a need for clinicians to treat depressive symptoms as early as possible.

Although the cause for increased risk of stroke wasn’t studied, one possible mechanism may be an increase in inflammation in the brain. A study published earlier this year found significant elevation of brain inflammation in study participants with depression [3]. Inflammation can lead to reduced health of blood vessels and increased plaque formation, which may increase the risk of stroke.

Depression is a serious mental health condition that requires understanding, treatment and a good recovery plan. Left untreated, depression can be devastating, both for the people who have it and for their families. Symptoms of depression include changes in sleep, changes in appetite, lack of concentration, physical aches and pains, loss of energy and lack of interest, as well as feelings of low self esteem and hopelessness. Depression is an extremely complex disease that can be caused by something as simple as a major life event (including positive events such as starting a new job, graduating or getting married). Genetics is thought to play a role. Additional factors such as conflict, medications, abuse, death or loss, or serious illness may increase the chance of depression. If you’re feeling depressed or concerned about your risk of stroke, you should speak to your doctor.


  1. Gilsanz el al. Changes in Depressive Symptoms and Incidence of First Stroke Among Middle?Aged and Older US Adults. J Am Heart Assoc. 2015 May 13;4(5). pii: e001923. doi: 10.1161/JAHA.115.001923.
    View abstract
  2. Long-term depression may double stroke risk for middle-aged adults. Press release, Harvard T.H. Chan School of Public Health. 2015 May 13.
  3. Setiawan et al. Role of Translocator Protein Density, a Marker of Neuroinflammation, in the Brain During Major Depressive Episodes. JAMA Psychiatry. 2015;72(3):268-275. doi:10.1001/jamapsychiatry.2014.2427.
    View abstract
Brain Imaging in Children with Neurological Disorders Links Language Delay to Chromosome Deletion Fri, 20 Feb 2015 05:44:30 +0000 Children born with DNA copy number deletions on chromosome 16 show measurable delays in processing sound and language.]]>

A study team of radiologists and psychologists has found that children born with DNA copy number deletions in a specific region on chromosome 16 previously linked to neurodevelopmental problems show measurable delays in processing sound and language [1].

Child in a MEG machine


The study, published in the journal Cerebral Cortex, used magnetoencephalography (MEG), which detects magnetic fields in the brain (similar to electroencephalography (EEG), which detects electrical fields), to measure an auditory processing delay called the M100 response latency [1]. As each child heard a series of tones, the MEG machine analyzed changing magnetic fields in the child’s brain and measured M100 response latency.

Previous research has found that the genetic site p11.2 on chromosome 16 is associated with a subset of autism spectrum disorders, language impairments and developmental delays. In fact, patients with a deletion of the region have a disorder called 16p11.2 deletion syndrome. The region encompasses 29 genes, several of which are associated with autistic disorder (SEZ6L2, ALDOA, DOC2A, HIRIP3, MAZ, PPP4C, TAOK2, KCTD13), nerve degeneration (MAPK3) or developmental language impairment (SULT1A3 and SULT1A4) [2].


Lead by research leader Timothy P.L. Roberts, PhD, vice chair of Radiology Research at CHOP and a researcher at CHOP’s Center for Autism Research, scientists analyzed 115 children: 65 with copy number variants (43 with the 16p11.2 deletion and 23 with the 16p11.2 duplication) and 49 healthy controls. The children were from two centers, Children’s Hospital of Philadelphia (CHOP) and the University of California, San Francisco. Only 20% of the children had autism spectrum disorder diagnoses: 11 of the 43 with the deletion and 2 of the 23 with the duplication.

In children with the deletion, researchers found a significant delay of 23 milliseconds compared to the healthy children. In contrast, there was no observed delay in the children with the duplication, who tended to process sounds faster than the healthy controls.

According to Dr. Roberts:

This study shows an important connection between gene differences and differences in neurophysiology. It may also help to bridge a largely unexplored gap between genetics and behavior. We don’t yet know the significance of the 23-millisecond delay, but we have established its origin in genetics. It seems to be a proxy for something of biological significance.

The 23 millisecond delay was twice as high as an 11 millesecond delay observed in an earlier study of children with autism spectrum disorders [3]. In that study, Dr. Roberts remarked that although 11 milliseconds is a brief interval, it meant that a child hearing the word ‘elephant’ would still be processing the ‘el’ sound while other children moved on, with delays cascading as a conversation progressed.

Researchers are planning a very small pilot study of children with autism spectrum disorder who have the M100 response latency. Using a drug that acts on signals across nerve cells, they will analyze whether the drug reduces auditory delays.

Future studies will investigate other genes previously implicated in autism spectrum disorders and other psychiatric disorders to determine whether they also involve the M100 response delay. The ultimate goal is to unite diverse genes along a few common biological pathways, some of which researchers hope will be treatable with specific therapies.


  1. Jenkins et al. Auditory Evoked M100 Response Latency is Delayed in Children with 16p11.2 Deletion but not 16p11.2 Duplication. Cereb Cortex. 2015 Feb 11. pii: bhv008. [Epub ahead of print]
    View abstract
  2. Gene-disease association data were retrieved from the DisGeNET Database, GRIB/IMIM/UPF Integrative Biomedical Informatics Group, Barcelona. ( 2014 Feb 20.
  3. Roberts et al. MEG detection of delayed auditory evoked responses in autism spectrum disorders: towards an imaging biomarker for autism. Autism Res. 2010 Feb;3(1):8-18. doi: 10.1002/aur.111.
    View abstract
The Precision Medicine Initiative Tue, 17 Feb 2015 05:13:03 +0000 In his State of the Union address last month, President Obama announced the Precision Medicine Initiative, a bold new research effort to revolutionize how we improve health and treat disease.]]>

In his State of the Union address last month, President Obama announced the Precision Medicine Initiative, a bold new research effort to revolutionize how we improve health and treat disease.

The Precision Medicine Initiative

Launched with a $215 million investment as part of the President’s 2016 budget proposal [1], the Precision Medicine Initiative will build a new database containing medical records and genetic information for millions of Americans, as well as establish new models of patient-powered medical research that promises to accelerate biomedical discoveries and provide clinicians with new tools, knowledge and therapies to select those treatments that will work best for a specific patient’s disease instead of relying on a one-size-fits-all approach.

In contrast to personalized medicine in which physicians make treatment decisions based on patient preferences (e.g. one patient may prefer to take a pill each day while another patient may prefer to have a drug infusion once a month), precision medicine refers to using molecular information to improve the accuracy with which patients are categorized and treated.

Personalized medicine: patient X with disease Y should get drug Z.
Precision medicine: patient X has a subset of disease Y, in particular disease Y3, not disease Y1 or Y2, and patients with disease Y3 tend to respond more favorably to drug Z3, not drug Z1 or Z2.

This is already occurring with several types of cancer, where genomic information is helping to shape treatment strategies. For example, the breast cancer drug trastuzumab (Herceptin) works only for women whose tumors have a particular genetic profile called HER-2 positive. Similarly, lung cancer patients with tumors positive for mutations to the gene EGFR respond to the drugs gefitinib (Iressa) and erlotinib (Tarceva).

In a recent JAMA editorial, Drs. Francis Collins, Director of the National Institutes of Health (NIH), and Harold Varmus, Director of the National Cancer Institute (NCI), explain [2]:

The proposed [Precision Medicine] initiative has two main components: a near-term focus on cancers and a longer-term aim to generate knowledge applicable to the whole range of health and disease. Both components are now within our reach because of advances in basic research, including molecular biology, genomics, and bioinformatics. Furthermore, the initiative taps into converging trends of increased connectivity, through social media and mobile devices, and Americans’ growing desire to be active partners in medical research.

You can learn more about the importance of this initiative from Jo Handelsman, Associate Director for Science in the Office of Science Technology and Policy, in the video below.

You can also watch an archived webcast of the NIH Workshop on Building a Precision Medicine Research Cohort, which was held earlier this month to discuss the opportunities and challenges around building a large research cohort focused on precision medicine. The workshop heard from several leading experts from many disciplines and sectors, and included Directors from seven NIH Institutes as well as the NCI.

The National Human Genome Research Institute’s long-term plan to enable healthcare providers to use information about our individual genomes to better diagnose and treat disease [3] is consistent with the bold goals of the Precision Medicine Initiative, which include:

  • strong public-private partnerships
  • more and better treatments for cancer
  • a commitment to protecting privacy and security of data
  • the creation of a voluntary national, patient-powered research cohort
  • the modernization of FDA regulations around next-generation sequencing technologies

Together with the appropriate regulatory frameworks that ensure consumers have access to their own health data, as well as to the applications and services that can securely access and accurately analyze it, the Precision Medicine Initiative promises to revolutionize the treatment of disease and empower individuals and families to invest in and manage their health.


  1. FACT SHEET: President Obama’s Precision Medicine Initiative. The White House. 2015 Jan 30.
  2. Collins FS and Varmus H. A New Initiative on Precision Medicine. N Engl J Med. 2015 Jan 30. [Epub ahead of print]
    View abstract
  3. NHGRI charts course for the next phase of genomics research. NIH News. 2011 Feb 9.
Cocoa Flavanols Improve Speed of Memory Tasks in Older Adults Thu, 30 Oct 2014 17:32:32 +0000 Dietary cocoa flavanolsA new study finds that naturally occurring bioactive molecules in cocoa can improve the speed of memory tasks in healthy older adults.]]> Dietary cocoa flavanols

A new study finds that dietary cocoa flavanols — naturally occurring bioactive molecules in cocoa — can improve the speed of a memory task in healthy older adults.

Dietary cocoa flavanols

The study, published in the advance online issue of Nature Neuroscience [1], provides the first direct evidence that one component of age-related memory decline is caused by changes in a specific region of the brain called the dentate gyrus and that age-related of memory decline can be modulated by dietary intervention.

Researchers at Columbia University Medical Center (CUMC) recruited 37 healthy volunteers 50 to 69 years of age to participate in the study. The volunteers were randomized to receive either a high- or a low-flavanol diet. Brain imaging to measure blood volume in the dentate gyrus and a memory test involving pattern recognition were done for each volunteer before and after the study. The scientists found enhanced function of the dentate gyrus, as measured by fMRI and by cognitive testing, in participants that consumed the high-cocoa-flavanol drink.

The cocoa flavanol-containing test drink was prepared specifically for research purposes by the food company Mars, Incorporated, maker of M&M’s and Snickers bars, which has patented a way to extract flavanols from cocoa beans. However, don’t jump to the conclusion that all one needs to do is consume more chocolate. The cocoa flavanol drink is NOT the same as chocolate and will not produce the same effect. In fact, most methods of processing cocoa remove many of the flavanols found in the raw plant.

It’s important to note that the specially formulated cocoa-based drink high in flavanols made older people slightly faster, but not more accurate, in memory tests. Thus, the research is valuable from the perspective of gaining a better understanding of aging and brain function, but hasn’t been shown to be a treatment for cognitive decline. Moreover, the research was only done with 37 healthy people over a short period of time. Larger, longer studies that include patients with dementia need to be done before claims on reversing age-related and/or disease-related memory can be made.

Mars, Incorporated, is very focused on cocoa flavanols. In July, we wrote about a new study sponsored in part by Mars Inc. to see if pills containing the nutrients in dark chocolate (flavanols) can help prevent heart attacks and strokes. Mars is funding these studies to generate data to support flavanol’s use as a bioactive molecule.


  1. Brickman et a. Enhancing dentate gyrus function with dietary flavanols improves cognition in older adults. Nat Neurosci. 2014 Oct 26. doi: 10.1038/nn.3850.
    View abstract
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Seven Hours of Sleep May Be Better Than Eight Wed, 30 Jul 2014 13:00:00 +0000 New research shows that 8 hours of sleep a night may not be the optimal amount for everyone.]]>

You’ve probably heard that 8 hours is the magical amount of sleep needed every night. New research suggests that may not be the optimal amount for everyone.


Conventional wisdom states that eight hours of continuous nightly rest is necessary to refresh ourselves. Too little sleep and we’re tired in the morning. Moreover, a number of studies have shown that lack of sleep endangers our health and longevity. One recent study suggests that chronic sleep loss may lead to loss of brain cells.

At the other end of the scale, too much sleep increases our risk for health problems, including diabetes, obesity and cardiovascular disease.

Unfortunately, the ‘8 hours of sleep a night’ rule ignores common variations in individual sleep patterns, creates stress for people who aren’t able to get eight hours of sleep, and ignores a historical precedent.

Sleeping in one eight-hour block of time is a very recent phenomenon brought about by the industrial revolution at the end of the 19th Century. The dominant pattern of sleep, arguably since ancient times, was biphasic. People slept in two four-hour blocks, separated by a period of wakefulness in the middle of the night that lasted an hour or more.

Today, sleep experts generally recommend seven to nine hours of continuous sleep a night for healthy adults. However, a recent study provides the latest evidence that seven hours — not eight or nine — is the optimal amount of sleep for adults.

The study was published in the Journal of Clinical Sleep Medicine and evaluated five healthy adults that spent over two months in a “Stone Age-like” settlement in Southern Germany [1].

Participants lived in huts built on stilts with no electricity, clocks or running water. They  gathered their own food each day and returned to their beds made of brushwood and furs each night. There were no torches or candles in the huts.

The most notable finding of the study was that night time in bed and estimated sleep time increased dramatically. Study participants fell asleep about two hours earlier and got on average 1.5 hours more sleep than normal. Their average amount of sleep was 7.2 hours per night.

New sleep guidelines are coming

As American sleep less than they did in the past, sleep scientists are working to develop new guidelines that reflect evidence that has emerged from scientific studies. The National Healthy Sleep Awareness Project aims to figure out how to best update recommended sleep guidelines in 2015. The new sleep guidelines are expected to take into account variables such as gender and age. The guidelines will be determined by a panel of experts being assembled by the Centers for Disease Control and Prevention (CDC), the American Academy of Sleep Medicine, and the Sleep Research Society (an organization for sleep researchers).

The National Sleep Foundation, a nonprofit research and advocacy group, has also assembled an expert panel unrelated to the project above and expects to release updated recommendations for sleep times in January 2015.

All these groups currently recommend seven to nine hours of nightly sleep for healthy adults.

How much sleep do you need?

Because sleep needs vary between individuals due to both genetics and cultural differences, you should aim for seven to eight hours of sleep a night and evaluate how you feel. Experts say people should be able to figure out their optimal amount of sleep in a trial of three to seven days, ideally while on vacation.

Go to sleep when you get tired, avoid too much caffeine or alcohol, don’t use an alarm clock, and stay off electronic devices a couple of hours before going to bed. During your sleep trial, use a diary or a device that records your actual sleep duration to track your sleep. If you feel refreshed and awake during the day, you’ve probably discovered your optimal sleep time.

The amount of sleep you need every night changes over the course of your life. The National Heart, Lung and Blood Institute recommends seven to eight hours of sleep per night for adults, and more for teens. School-aged children should get at least 10 hours of sleep per night.

Source: The Wall Street Journal


  1. Piosczyk et al. Prolonged Sleep under Stone Age Conditions. J Clin Sleep Med. 2014 Jul 15;10(7):719-22. doi: 10.5664/jcsm.3854.
    View abstract
Using Big Data Analytics to Predict Metabolic Syndrome Tue, 01 Jul 2014 11:00:42 +0000 A study by Aetna and GNS Healthcare uses “big data" analytics to predict patients at risk for metabolic syndrome.]]>

A new study by Aetna’s Innovation Labs and GNS Healthcare uses “big data” analytics to predict patients at risk for metabolic syndrome. Their results show that lowering waist size and blood glucose have the largest health benefits and cause the biggest reduction in medical costs. Regular doctor visits and medication adherence reduces the one-year probability of having metabolic syndrome in nearly 90% of people.

Big data analytics predict patients at risk

Metabolic syndrome is the name for a group of five risk factors that raise your risk for heart disease and other health problems, such as diabetes and stroke:

Patients who exhibit three of these five factors are classified as having metabolic syndrome. People who have metabolic syndrome are 2x as likely to have a heart attack or stroke and are 5x as likely to develop diabetes as those who don’t. All together, these conditions account for ~20% of healthcare costs in the United States. As a managed healthcare company, Aetna is very interested in personalized interventions that could reduce risk and decrease costs associated with metabolic syndrome.

Aetna’s Innovation Labs collaborated with GNS Healthcare to build computer models and evaluate information from 37,000 members of one of Aetna’s employer customers. The information included medical and pharmacy claims, demographics, lab tests and biometric screening results (blood pressure and cholesterol) over a two-year period.

Two analytical models were used in the study:

  1. a claims-based-only model to predict the likelihood of each of the five metabolic syndrome factors occurring for each subject
  2. a model based on both claims and biometric data to predict whether each study subject is likely to improve, stay the same, or get worse for each metabolic syndrome factor

The models were used to predict future risk of metabolic syndrome on both a population and an individual level. Detailed risk profiles were built for each subject that included which combination of the five metabolic syndrome factors that person exhibited and are at risk for developing.

The models were also be used to create personalized exercise, weight management, and care management programs. The study found that:

  • reduction in waist size and blood glucose had the largest health benefits and the greatest decrease in medical costs
  • having regular doctor visits and appropriate use of prescription medicines helped people change their risk factors; having a routine, scheduled outpatient visit reduced the one-year probability of having metabolic syndrome in nearly 90% of people.

Results from the study are published in the June issue of the American Journal of Managed Care.

Following the study, several Aetna employer customers began using the metabolic syndrome reporting and prediction capabilities described. Once people are identified as at risk for metabolic syndrome, they receive  specific suggestions for how to reduce their risk. Aetna expects the metabolic syndrome predictor will be more broadly available to Aetna employer customers in 2015.

Sources: Aetna, GNS Healthcare


  1. Steinberg et al. Novel Predictive Models for Metabolic Syndrome Risk: A “Big Data” Analytic Approach. Am J Manag Care. 2014 Jun 26.
    View abstract
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Review Finds Inexpensive Food a Key Factor in Rising Obesity Mon, 16 Jun 2014 20:01:54 +0000 A new review concludes that cheap food has fueled the obesity epidemic in the United States.]]>

A new review summarizing what is known about economic factors linked to increasing obesity in the United States dispels some widely held beliefs and concludes that cheap food has fueled the obesity epidemic [1].

Cheap eats

The review, published in the journal CA: A Cancer Journal for Clinicians, notes that rising obesity rates have been accompanied by increased rather than decreased leisure/free time, increased fruit and vegetable availability rather than a decline in healthier foods, and increased exercise uptake.

After examining all the data, the researchers say the widespread availability of inexpensive food appears to have the strongest link to obesity. Indeed, measured as a fraction of disposable income, Americans have the cheapest food in history. Spending of disposable income on food went from 25% in the 1930s to 20% in the 1950s. The graph below shows the trend since 1970. The share today is less than 10% of disposable income.

Food expenditures as a percentage of disposable income

The authors say that other factor also have contributed to obesity: cars, increased electronic entertainment, a shift in jobs away from those with physical demands, and increased urbanization. However, the evidence for those associations is less strong. The authors state that:

Examining time trends for which there are data, what jumps out are changes in food availability, in particular the increase in caloric sweeteners and carbohydrates. Average daily discretionary calories from salty snacks, cookies, candy, and soft drinks now exceed the discretionary calories recommended in the Dietary Guidelines for energy balance and essential nutrients and the ratio of consumed to recommended discretionary calories is a significant predictor of BMI in the population.

The review concludes by suggesting that policy interventions that focus on positive messages, such as eating more fruit and vegetables or increasing physical activity, may not be the best approach, since more variety means more eating, not less. A more promising tactic is an emphasis on reducing discretionary caloric intake, particularly sugarsweetened beverages and salted snacks.


  1. Sturm and An. Obesity and economic environments. CA Cancer J Clin. 2014 May 22. doi: 10.3322/caac.21237. [Epub ahead of print]
    View abstract
Oncologists Have Mixed Attitudes on the Use of Genomic Testing Fri, 28 Mar 2014 15:00:04 +0000 A recent study finds that not all physicians are eager to embrace predictive genomic testing.]]>

Predictive genomic testing has the potential to usher in an era of personalized cancer care for patients. However, a recent study finds that not all physicians are eager to embrace the technology.

Cancer genomic testing

Researchers from Dana-Farber Cancer Institute surveyed 160 physicians from Dana-Farber/Brigham and Women’s Cancer Center, which has a comprehensive research program that allows all consenting patients to have their tumor genome tested for mutations and other DNA changes.

The physicians were asked about their current use of somatic testing (non-inherited mutations in cancers), their attitudes about multiplex testing (a type of test that simultaneously measures multiple substances in a single run/cycle of the test), and their confidence in their ability to understand and use genomic data.

The survey was conducted between 2011 and 2012. Twenty-two percent of physicians reported low confidence in their genomic knowledge. One quarter of physicians (25%) anticipated testing most patients (>90%), while 18% anticipated testing patients infrequently (<10%).

Higher confidence in genomic testing was associated with wanting to test a majority of patients and anticipating using actionable test results or potentially actionable test results to inform treatment recommendations. Just under half (42%) of respondents said they approved disclosing uncertain genomic findings to patients.

Stacy W. Gray, MD, AM, first author of the study and a thoracic cancer physician at Dana-Farber, said:

Some oncologists said we shouldn’t return these results to patients, and others say ‘of course, we should give them to the patient.’ The fact that we found so much variation in physicians’ confidence about their ability to use genetic data at a tertiary care National Cancer Institute–designated comprehensive cancer center makes us pause and wonder about how confident physicians in the community are about dealing with this. It begs the question at the national level, how are we going to make sure that this technology for cancer care is adequately delivered?

The researchers advocate for renewed efforts in physician genomic education and decision support. They conclude that a concerted effort is needed to ensure that physicians present information about predictive multiplex tests to patients in a way that enhances patient understanding and increases patients’ test acceptance.

The study is published in the Journal of Clinical Oncology.

Source: The Asco Post

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Chronic Sleep Loss May Lead to Loss of Brain Cells Wed, 26 Mar 2014 04:01:57 +0000 New research suggests chronic sleep loss may lead to loss of brain cells.]]>

In today’s hectic, fast-paced world, all too often we hear people say they haven’t gotten enough rest and plan to “catch up” on sleep over the weekend. However, new research suggests chronic sleep loss may be more serious than previously thought and may even lead to loss of brain cells [1].

Loss of brain cells

Using a mouse model of chronic sleep deprivation, researchers at the Center for Sleep and Circadian Neurobiology at the Perelman School of Medicine and collaborators from Peking University, have determined that staying awake too long is linked to injury and loss of neurons called locus ceruleus (LC) neurons, which are essential for alertness and optimal cognition.

Mitochondria: specialized subunits inside a cell that produce the cell’s energy and regulate its metabolism.

The mice were examined following periods of normal rest, short wakefulness, or extended wakefulness, modeling a shift worker’s typical sleep pattern. Scientists found that LC neurons upregulate a protein called sirtuin type 3 (SirT3) in response to short-term sleep loss. SirT3 is important for mitochondrial energy production and redox (reduction-oxidation) responses, and protects the neurons from metabolic injury. With extended wakefulness, the SirT3 response is absent. After several days of shift worker sleep patterns, LC neurons in the mice showed reduced levels of SirT3 and increased cell death.

Lead author Sigrid Veasey, MD, associate professor of Medicine at the University of Pennsylvania’s Perelman School of Medicine stresses that more work needs to be done to determine whether this phenomenon occurs in humans and, if so, how much wakefulness puts people at risk of neural injury [2]:

In light of the role for SirT3 in the adaptive response to sleep loss, the extent of neuronal injury may vary across individuals. Specifically, aging, diabetes, high-fat diet and sedentary lifestyle may all reduce SirT3. If cells in individuals, including neurons, have reduced SirT3 prior to sleep loss, these individuals may be set up for greater risk of injury to their nerve cells.

The study appears in the Journal of Neuroscience [1].


  1. Zhang et al. Extended wakefulness: compromised metabolics in and degeneration of locus ceruleus neurons. J Neurosci. 2014 Mar 19;34(12):4418-31. doi: 10.1523/JNEUROSCI.5025-12.2014.
    View abstract
  2. Penn Medicine Researchers Show How Lost Sleep Leads to Lost Neurons. Penn Medicine Press Release. 2014 Mar 18.
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