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New mutations that are absent in parents but appear in their offspring account for at least 10 percent of severe congenital heart disease, reveals a massive genomics study led by researchers at the Yale School of Medicine.

According to a press release put out by Yale, an analysis of all the genes of more than 1800 individuals found hundreds of mutations in that can cause congenital heart disease, the most common form of birth defect that afflicts nearly 1 percent of all newborns. In particular, the study found frequent mutations in genes that modify histones, proteins that package DNA in the nucleus and orchestrate the timing and activation of genes crucial to development of the fetus. The results of the study, part of the Pediatric Cardiac Genomics Consortium funded by the National Heart Lung and Blood Institute, were published online May 12 in the journal Nature.

The mutations can occur at the same site, and both increase and decrease the modification histone proteins, said Martina Brueckner, professor of pediatrics and genetics at Yale and another senior author of the study. The results suggest a very sensitive developmental system that might also be influenced by environmental factors in development.

Samir Zaidi and Murim Choi of Yale were co-lead authors of the paper. Researchers from Harvard University, Columbia University Medical Center, the Perelman School of Medicine at University of Pennsylvania, and Icahn School of Medicine at Mt. Sinai shared senior authorship.

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St. Vincent’s MultiSpecialty Group has announced that Dr. Anna Pankratov has joined its new  primary care office in Westport, Westport Medicine, 225 Main St., Suite 101.
Pankratov is board certified in internal medicine and a fellowship-trained geriatrician.   Most recently, Dr. Pankratov practiced in the Bronx, New York. She has extensive experience in internal medicine and geriatrics with a focus on diabetes treatment. Pankratov completed her fellowship and residency at Montefiore Medical Center North in New York and is a member of the American College of Physicians.

Westport Medicine is open from 9 a.m. to 5 p.m. on Mondays, Tuesdays and Fridays and from 11 a.m. to 7 p.m. on Tuesdays and Thursdays.  To make an appointment with Pankratov, please call 203-222-0902.

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Community health centers in Connecticut will get more than $1.5 million in grant money to help fund effort to enroll those without health coverage in insurance programs. The funding was part of the Affordable Care Act, which aims to have most Americans covered by 2014.

Today, Health and Human Services Secretary Kathleen Sebelius today announced that health centers throughout the country will get a total of about $150 million. With these new funds, health centers will be able to hire new staff, train existing staff, and conduct community outreach events and other educational activities.  Health centers will help consumers understand their coverage options, determine their eligibility, and enroll in new affordable health insurance options.

In Connecticut, an estimated $1,546,149 is available to support 13 health centers’ enrollment efforts.

“Health centers have extensive experience providing eligibility assistance to patients, are providing care to 329,009 individuals in Connecticut communities, and are well-positioned to support enrollment efforts,” Secretary Sebelius said in a press release.  “Investing in health centers for outreach and enrollment assistance provides one more way the Obama Administration is helping consumers understand their options and enroll in affordable coverage.”

To see a list of health centers eligible to apply for this funding in Connecticut visit http://www.hrsa.gov/about/news/2013tables/outreachandenrollment/.

For information on applying for this funding opportunity visit http://bphc.hrsa.gov/outreachandenrollment/.

Open enrollment in the Health Insurance Marketplace begins October 1, 2013.  To learn more visit http://www.HealthCare.gov/marketplace.

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According to a new AFL-CIO report,  Connecticut had the 4th lowest worker fatality rate in the country, 2.2 workers per 100,000 workers.

The report, Death on the Job: The Toll of Neglect, uses U.S. Bureau of Labor Statistics data from 2011. According to a release sent by the AFL-CIO today,  4,693 workers died on the job nationwide in 2011, a rate of 3.5 deaths per 100,000 workers, down from the previous year’s figures of 3.6.  In Connecticut, 37 workers were killed in 2011.

In addition to the deaths, the report showed that about 7.6 million to 11.4 million job injuries and illnesses each year. The cost of job injuries and illnesses is enormous—estimated at $250 billion to $300 billion a year.

North Dakota, Wyoming, Montana and Alaska were among the states with the highest workplace fatality rates. Meanwhile, a fellow New England state — New Hampshire — had the lowest rate of deaths, at 1.2 fatalities per 100,000.

The AFL-CIO report features profiles of workers’ safety and health in each state and includes national information on workplace illnesses, injuries and fatalities as well as the number and frequency of workplace inspections, penalties, funding, staffing and public employee coverage under the Occupational Safety and Health Act (OSH Act). The report also addresses delays in the rule-making process and emerging hazards such as pandemic flu and other infectious diseases.

To read the full report, visit http://www.aflcio.org/Issues/Job-Safety/Death-on-the-Job-Report

Death on the Job: The Toll of Neglect was released after vigils, rallies and actions were held across the country to commemorate all those workers who died and were injured on the job for Workers Memorial Day on April 28.