Focus: Hidden - Philly Metro

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Researchers have identified a rare genetic syndrome characterized by intellectual disability, seizures, an abnormal gait and distinctive facial features. The scientists pinpointed variants in the WDR26 gene as causes for this distinctive, yet unnamed condition. Their early research provides initial information for counseling patients and families coping with uncertainties for children with the rare, poorly recognized condition.

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The late adolescent years are an important period for gaining bone mineral, even after a teenager attains his or her adult height. Scientists analyzing a racially diverse, multicenter sample from a large, federally funded national study say their findings reinforce the importance of diet and physical activities during the late teen years, as a foundation for lifelong health.

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Cancer patients in the United States may be unable to access care at the nation’s top hospitals due to narrow insurance plan coverage – leaving patients to choose between lower premiums or access to higher-quality cancer care. A new study from the Perelman School of Medicine at the University of Pennsylvania shows common, so-called “narrow network” insurance plans – lower-premium plans with reduced access to certain providers – are more likely to exclude doctors associated with National Cancer Institute (NCI)-Designated Cancer Centers.

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Advance directives are the primary tool for individuals to communicate their wishes if they become incapacitated and are unable to make their own health care decisions, particularly near the end of life. Despite this, 63 percent of American adults have not completed one, reports the most comprehensive study to date on the subject from researchers at the Perelman School of Medicine at the University of Pennsylvania this week in the July issue of Health Affairs.

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Pelvic girdle pain (PGP) is a common condition that causes pain and physical impairment, most frequently during the antepartum (before delivery) period. A new guideline for evidence-based physical therapy practice for PGP during pregnancy appears in the Journal of Women's Health Physical Therapy, official journal of the Section on Women's Health (SOWH) of the American Physical Therapy Association. The journal is published by Wolters Kluwer.

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Levels of a nerve cell signaling molecule called substance P—measured in tear samples—might be a useful marker of diabetes-related nerve damage (neuropathy), suggests a study in the July issue of Optometry and Vision Science, the official journal of the American Academy of Optometry. The journal is published by Wolters Kluwer.

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Wistar is pleased to announce the appointment of world-renowned scientist, medical oncologist and National Academy of Medicine member Chi Van Dang, M.D., Ph.D., as professor.

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Researchers from the Perelman School of Medicine at the University of Pennsylvania have found evidence that the most difficult C. difficile cases, known as multiple recurring C. difficile infections (mrCDI), are rapidly becoming more common.

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“Are you unhappy with your environment?” asked the flyer for a Town Hall meeting at the Faith Temple Holy Church in Chester, PA, held earlier this month. Residents gathered for a Q&A with environmental scientists, Rev. Horace Stand, church pastor and founder of the Chester Environmental Partnership (CEP), and long-time Chester residents and CEP members Dolores and John Shelton.

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Shaily Menon, Ph.D., an accomplished biologist and administrator, will join Saint Joseph’s University as the next dean of the College of Arts and Sciences. She will assume the role effective August 1, 2017. Menon most recently held the position of associate dean for research, facilities planning and community engagement in the College of Liberal Arts and Sciences at Grand Valley State University (GVSU) in Allendale, Michigan.

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Miss USA Kára McCullough knows a thing or two about the importance of science and encouraging girls to pursue their passions in STEM related fields. McCullough earned a bachelor of science degree in chemistry with a concentration in radiochemistry from South Carolina State University which paved the way to her current career as a scientist for the Nuclear Regulatory Commission (NRC).

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A research group in the division of Gastroenterology in the Perelman School of Medicine at the University of Pennsylvania has received a National Cancer Institute grant to extend a Barrett's Esophagus translational research network with Columbia University and the Mayo Clinic until 2022.

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Focusing on a rare but devastating complication in patients with single-ventricle heart disease, a research team has revealed the role of leakage from the liver’s lymphatic system, and used a novel procedure to seal off those leaks and improve symptoms in patients.

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Mitochondrial diseases are a diverse group of disorders caused by mutated genes that impair energy production in a patient’s cells, often with severe effects. Patients incur high medical costs when hospitalized, and suffer higher-than-typical rates of comorbid diseases and in-hospital mortality. Researchers who analyzed those costs in national databases say their findings underscore the importance of developing preventive strategies and therapies for these illnesses.

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Noninvasive brain stimulation and physical therapy—alone or in combination—improve some measures of walking ability in patients with Parkinson’s disease (PD), concludes a clinical trial in the American Journal of Physical Medicine & Rehabilitation, the official journal of the Association of Academic Physiatrists. The journal is published by Wolters Kluwer.

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Wolters Kluwer, a leading global provider of information and point of care solutions for the healthcare industry, today announced that Lippincott PassPoint was named a 2017 SIIA CODiE Award finalist in the Best Student Assessment Solution category. Finalists represent applications, products and services from providers of educational software, digital content, online learning services and related technologies encompassing pre-K through post-secondary sectors. Lippincott PassPoint is part of a suite of comprehensive digital nursing education solutions.

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In the fruit fly, social isolation leads to sleep loss, which in turn leads to cellular stress and the activation of a defense mechanism called the unfolded protein response.

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Wolters Kluwer, a leading global provider of information and point of care solutions for the healthcare industry, is pleased to announce a new publishing partnership with the Canadian Society of Addiction Medicine (CSAM). Beginning with the December 2017 issue, Wolters Kluwer will publish the Canadian Journal of Addiction, the official journal of the CSAM, as part of its Lippincott journal portfolio.

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Unlike traditional clinical rotations abroad for medical residents, the University of Pennsylvania has created an equal education exchange with Guatemala's INDERMA program, meaning that not only do Penn Dermatology residents spend time in Guatemala, but INDERMA residents come to Philadelphia for clinical rotations and lectures.

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Activity monitors or fitness trackers are fun and informative gadgets to help track daily physical activity. But as a source of objective data for research on the health benefits of exercise, they’re not yet fully up to speed, reports a paper in Progress in Preventive Medicine, the official journal of the European Society of Preventive Medicine. The journal is published by Wolters Kluwer.