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With a better understanding of underlying mechanisms that cause a rare neurodevelopmental disorder in the Old Order Mennonite population, referred to as Pretzel syndrome, a new study reports that five children were successfully treated with a drug that modifies the disease process, minimizing seizures and improving receptive language. The study, by researchers including experts from the Perelman School of Medicine at the University of Pennsylvania, appears in the journal Science Translational Medicine.

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Deep brain stimulation (DBS) in a precise region of the brain appears to reduce caloric intake and prompt weight loss in obese animal models, according to a new study led by researchers at the University of Pennsylvania.

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Researchers from the Perelman School of Medicine at the University of the Pennsylvania have shown that an area of the brain that initiates behavioral changes had greater activation in smokers who watched anti-smoking ads with strong arguments versus those with weaker ones, and irrespective of flashy elements, like bright and rapidly changing scenes, loud sounds and unexpected scenario twists. Those smokers also had significantly less nicotine metabolites in their urine when tested a month after viewing those ads, the team reports in a new study published online April 23 in the Journal of Neuroscience.

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A gene therapy study focused on finding a cure for a rare congenital blinding disease has been recognized as one of the ten most outstanding clinical research projects of the year by the Clinical Research Forum (CRF). The study, led by Jean Bennett, MD, Phd, F.M. Kirby professor of Ophthalmology at the University of Pennsylvania School of Medicine, and carried out in collaboration with Penn Medicine’s Albert M. Maguire, MD, and Katherine A. High, MD at The Children’s Hospital of Philadelphia (CHOP), has been presented with the Distinguished Clinical Research Achievement Award, the second highest given in the CRF’s Annual Top 10 Clinical Research Achievement Awards. CRF award winners are cited as the most compelling examples of scientific innovation that results from the nation’s investment in clinical research that can benefit human health and welfare.

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Garret FitzGerald MD, FRS, chairman of the Pharmacology Department and director of the Institute for Translational Medicine and Therapeutics, Perelman School of Medicine, University of Pennsylvania, has been awarded the 2013 Grand Prix Scientifique by the Institut de France.

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Late stage thyroid cancer patients with aggressive disease may benefit from a genetic test, but experts caution that use of this test in early stage patients is inappropriate because it is unlikely to lead to better outcomes, according to an accompanying editorial in JAMA co-authored by two Perelman School of Medicine researchers at the University of Pennsylvania.

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Only 53 percent of newly diagnosed breast cancer patients who were at high risk of carrying a BRCA 1 or BRCA 2 mutation – based on age, diagnosis, and family history of breast or ovarian cancer – reported that their doctors urged them to be tested for the genes, according to a research team from the Perelman School of Medicine at the University of Pennsylvania.

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A team led by researchers from the Perelman School of Medicine at the University of Pennsylvania will present findings (Presentation #1679A) during the American Association for Cancer Research Annual Meeting 2013 outlining a potential new strategy for detecting which cancer patients may respond to therapies involving autophagy inhibitors.

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Increasing the number of hours of sleep adolescents get each night may reduce the prevalence of adolescent obesity, according to a new study by researchers at Penn Medicine. Results of the study show that fewer hours of sleep is associated with greater increases in adolescent body mass index (BMI) for participants between 14 and 18-years-old. The findings suggest that increasing sleep duration to 10 hours per day, especially for those in the upper half of the BMI distribution, could help to reduce the prevalence of adolescent obesity.

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As many as three quarters of advanced ovarian cancer patients appeared to respond to a new two-step immunotherapy approach -- including one patient who achieved complete remission -- according research from the Perelman School of Medicine at the University of Pennsylvania that will be presented today in a press conference at the AACR Annual Meeting 2013 (Presentation #LB-335). The immunotherapy has two steps – a personalized dendritic cell vaccination and adoptive T-cell therapy.

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Penn Medicine’s new Center for Personalized Diagnostics, a joint initiative of the department of Pathology and Laboratory Medicine in the Perelman School of Medicine and the Abramson Cancer Center, is diving deeper into each patient’s tumor with next generation DNA sequencing. These specialized tests can refine patient diagnoses with greater precision than standard imaging tests and blood work, all with an aim to broaden treatment options and improve their efficacy.

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Harnessing the patient’s own immune system to fight cancer through genetic modification of their own cells is rapidly emerging as a promising treatment option. Although these therapies provide great opportunities, they also pose unique challenges as investigators seek to refine the approach and expand the treatment option to more patients. A panel discussion at the AACR Annual Meeting 2013 – featuring the University of Pennsylvania physician-scientist leading the research team whose work has spurred worldwide attention to chimeric antigen receptor (CAR) technologies, and a trial participant whose leukemia remains in remission more than two and a half years after being treated with his own engineered cells – will explore the future of personalized cellular therapies.

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In the first study to examine appropriate utilization of so-called virtual colonoscopy among asymptomatic Medicare beneficiaries from 2007 to 2008, a research team from the Perelman School of Medicine at the University of Pennsylvania found that computed tomography colonography was used appropriately and may have expanded colorectal cancer screening beyond the population screened with standard (“optical”) colonoscopy.

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A multi-institution study led by researchers at the Perelman School of Medicine at the University of Pennsylvania has found that tying financial incentives to group weight loss led to significantly greater weight loss than cash awards based on an individual's success in losing weight on his or her own.

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In the latest issue of Neurosurgical Focus, researchers from the Perelman School of Medicine at the University of Pennsylvania review research showing that this ability to visualize relevant white matter tracts during glioma resection surgeries can improve accuracy.

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Certified Primary Stroke Centers are three times more likely to administer clot-busting treatment for strokes than non-certified centers, reports a new study by researchers in the Perelman School of Medicine at the University of Pennsylvania.

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Two children with an aggressive form of childhood leukemia had a complete remission of their disease—showing no evidence of cancer cells in their bodies—after treatment with a novel cell therapy that reprogrammed their immune cells to rapidly multiply and destroy leukemia cells. A research team from The Children’s Hospital of Philadelphia and the University of Pennsylvania published the case report of two pediatric patients Online First today in The New England Journal of Medicine. It will appear in the April 18 print issue.

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A new study from the Department of Orthopaedic Surgery at the Perelman School of Medicine at the University of Pennsylvania corroborates early evidence showing that cigarette smoking leads to longer healing times and an increased rate of post-operative complication and infection for patients sustaining fractures or traumatic injuries to their bone. The full results of the study are being presented this week at the 2013 American Academy of Orthopaedic Surgeons annual meeting in Chicago.

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By studying the underlying differences in gene expression during healing after a bone break in young versus aged mice, Jaimo Ahn, MD, PhD, assistant professor of Orthopaedic Surgery at the Perelman School of Medicine, University of Pennsylvania, and his colleagues aim to find specific pathways of fracture healing in humans. The team of researchers will present their findings in a poster presentation beginning Tuesday, March 19, 2013 at the 2013 American Academy of Orthopedic Surgeons annual meeting in Chicago.

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Injecting synthetic tau fibrils into animal models induces Alzheimer's-like tau tangles and imitates the spread of tau pathology, according to research from the Perelman School of Medicine at the University of Pennsylvania being presented at the American Academy of Neurology’s 65th Annual Meeting in San Diego March 16-23, 2013.

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series of studies demonstrate improved detection of the second most common form of dementia, providing diagnostic specificity that clears the way for refined clinical trials testing targeted treatments. The new research is being presented by experts from the Perelman School of Medicine at the University of Pennsylvania at the American Academy of Neurology’s 65th Annual Meeting in San Diego March 16-23, 2013.

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A new study by researchers from the Perelman School of Medicine at the University of Pennsylvania, being presented at the American Academy of Neurology’s 65th Annual Meeting in San Diego March 16-23, 2013, found that telemedicine programs in Oregon pushed stroke coverage into previously uncovered, less populated areas and expanded coverage by approximately 40 percent.

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Influenza virus-specific CD8+ T cells or virus-specific non-neutralizing antibodies are each relatively ineffective at conferring protective immunity alone. But, when combined, the virus-specific CD8 T cells and non-neutralizing antibodies cooperatively elicit robust protective immunity.

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Brown fat cells are the professional heat-producing cells of the body. Because of this they are protective against obesity as well as diabetes. A protein switch called early B cell factor-2 determines which developmental path fat precursor cells take – the brown vs. white cell trajectory.

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Little is understood about physicians' views surrounding the ethical aspects of ICD deactivation in end-of-life situations, especially as it relates to other medical interventions and patient and family directives. New research from the Perelman School of Medicine at the University of Pennsylvania has revealed that many electrophysiology practitioners believe ICD and pacemaker deactivation to be ethically distinct and that an ICD should not be deactivated without discussion with patients and families, even in the face of medical futility. The study results were reported today at the 2013 American College of Cardiology meeting in San Francisco.

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While two large clinical trials recently showed that adding niacin to statin therapy failed to improve clinical outcomes despite a significant increase in HDL-C levels, little is known about exactly why the increased HDL-C levels did not reduce the risk of cardiovascular events, including heart attack and stroke. Now, a small study from researchers the Perelman School of Medicine at the University of Pennsylvania, has shown that while niacin increased measured levels of HDL-C, it did not improve the functionality of HDL. This may provide an explanation for the failure of niacin to further reduce cardiovascular risk. The study results were reported today at the 62nd Annual Scientific Session of the American College of Cardiology in San Francisco.

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New research from a multidisciplinary team at the Perelman School of Medicine at the University of Pennsylvania has shown that the combination of CPAP and weight loss for patients with OSA can help lower blood pressure better than either therapy alone. The study results were reported today at the 62nd Annual Scientific Session of the American College of Cardiology in San Francisco.

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A research team at the Perelman School of Medicine, University of Pennsylvania, has identified one of the molecular players in this process has been identified – at least in nematode round worms. David Raizen, MD, PhD, assistant professor of Neurology, and his colleagues report in Current Biology that even in Caenorhabditis elegans, a tiny nematode worm that feeds on bacteria, loss of sleep is “stressful.”

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The wide consensus that health care spending poses a threat to the nation’s fiscal solvency has led to the championing of “value” as a goal of health care reform efforts. But the divergence of opinions between patients and physicians on the meaning of value presents an obstacle to progress in achieving genuine reform, says Lisa Rosenbaum, MD, a Robert Wood Johnson Foundation Clinical Scholar and cardiologist at the Perelman School of Medicine at the University of Pennsylvania. In a Medicine and Society article published this week the New England Journal of Medicine, “The Whole Ballgame — Overcoming the Blind Spots in Health Care Reform,” Rosenbaum writes that rather than facing the big-picture reality that spending less will mean sometimes having less, a more hopeful -- but misleading -- emphasis on pursuing high-value health care has emerged as the dominant paradigm.

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A team of investigators from nine institutions discovered how ATP – the body’s main fuel source– is released as the neurotransmitter from sweet, bitter, and umami, or savory, taste bud cells.

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Penn Medicine Study Uncovers Novel Risk Factors that will Help to Improve Lung Transplant Risk Assessment

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Researchers show how fish oils help lower blood pressure via vasodilation at ion channels. In vascular smooth muscle cells, such as those that line blood vessels, ion channels that span the outer membrane of a cell to let such ions as sodium, calcium, and potassium in and out, are critical to maintaining proper vessel pressure.

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A new study led by a researcher at Penn Medicine adds support to current medical recommendations stating that screening colonoscopy substantially reduces an average-risk adult’s likelihood of being diagnosed with advanced colorectal cancer (CRC) in either the right or left side of the colon. In the new study, researchers noted an overall 70 percent reduction of advanced CRC diagnoses associated with receiving a screening colonoscopy. The full results of the study appear online in the Annals of Internal Medicine.

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Mutations in prion-like segments of two RNA-binding proteins are associated with a rare inherited degeneration disorder (called multisystem proteinopathy) and one case of the familial form of amyotrophic lateral sclerosis.

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A healthy lung has some capacity to regenerate itself like the liver. In COPD, these reparative mechanisms fail. HDAC therapies may be useful for COPD, as well as other airway diseases. The levels of HDAC2 expression and its activity are greatly reduced in COPD patients. Decreased HDAC activity may impair the ability of the lung epithelium to regenerate.

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For years researchers have been searching for a way to treat diabetics by reactivating their insulin-producing beta cells, with limited success. The "reprogramming" of related alpha cells into beta cells may one day offer a novel and complementary approach for treating type 2 diabetes.

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Penn Medicine collaborates with the Annenberg Center for Performing Arts on ReEntry, a play highlighting the medical and psychological issues facing veterans returning from deployment. ReEntry is part of Penn’s Combat to Care campaign which aims to recruit veterans for employment and educate clinicians and medical students on treating veterans.

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According to a new study by researchers at the Perelman School of Medicine at the University of Pennsylvania, patients with Barrett's esophagus and early or pre-cancerous cells have been shown to significantly benefit from minimally invasive therapy delivered through an endoscope. Until recently, patients with these conditions were treated by surgery to remove the whole esophagus.

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Researchers found that epigenetic regulation is key to distinguishing one caste of carpenter ants, the “majors”, as brawny Amazons of the colony, compared to the “minors”, their smaller, brainier sisters. The two castes have the same genes, but strikingly distinct behaviors and shape.

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A recently described master regulator protein may explain the development of aberrant cell growth in the pancreas spurred by inflammation.

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A new study from the Perelman School of Medicine shows for the first time that certain nutrients may play an underlying role in short and long sleep duration and that people who report eating a large variety of foods – an indicator of an overall healthy diet – had the healthiest sleep patterns.

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Most ovarian cancer patients are diagnosed with late stage disease that is unresponsive to existing therapies. In a new study, researchers from the Perelman School of Medicine at the University of Pennsylvania School of Medicine show that a two-step personalized immunotherapy treatment — a dendritic cell vaccine using patients’ own tumor followed by adoptive T cell therapy — triggers anti-tumor immune responses in these type of patients. Four of the six patients treated in the trial responded to the therapy, the investigators report this month in OncoImmunology.

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Traumatic injury – including car accidents, gunshot wounds, and stabbings – is the leading cause of death for people younger than 40 years old in the United States, but despite the toll of these injuries, few emergency medical interventions considered to be the standard of care for these injuries have been rigorously studied in clinical trials, because patients and their families are typically unable to consent to participate in research. A new study from the Perelman School of Medicine at the University of Pennsylvania sought to examine peoples’ willingness to be enrolled in these types of studies under the federal provisions that allow patients with time-sensitive illnesses and injuries to be part of clinical trials without their express consent. The study revealed that those surveyed expressed high levels of approval and willingness to be part of these types of trials, both for themselves and their family members and friends.

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Researchers found a key determinant in the balance between two proteins, BRCA1 and 53BP1, in DNA repair machinery. Breast and ovarian cancer are associated with a breakdown in the repair systems involving these proteins.

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Researchers discovered a previously unknown critical role for a recently identified immune cell population in the progression of atopic dermatitis.

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Independent clinical trials, including one conducted at the Scheie Eye Institute at the Perelman School of Medicine, have reported safety and efficacy for Leber congenital amaurosis (LCA), a congenital form of blindness caused by mutations in a gene (RPE65) required for recycling vitamin A in the retina. Now, new research from the Scheie Eye Institute, published this week in the Proceedings of the National Academy of Sciences, finds that gene therapy for LCA shows enduring improvement in vision but also advancing degeneration of affected retinal cells, both in LCA patients and animal models of the same condition.

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Psychiatrists who are exposed to conflict-of-interest (COI) policies during their residency are less likely to prescribe brand-name antidepressants after graduation than those who trained in residency programs without such policies, according to a new study by researchers from the Perelman School of Medicine at the University of Pennsylvania.

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One of the most insidious ways that parasitic diseases such as malaria and toxoplasmosis wreak their havoc is by hijacking their host's natural cellular processes, turning self against self.

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By using synthetic fibrils made from pure recombinant protein, Penn researchers provide the first direct and compelling evidence that tau fibrils alone are entirely sufficient to recruit and convert soluble tau within cells into pathological clumps in neurons, followed by transmission of tau pathology to other inter-connected brain regions from a single injection site in an animal model of tau brain disease.

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In the first study to examine discussion of drug side effects on Internet message boards, researchers from the Perelman School of Medicine at the University of Pennsylvania found that breast cancer survivors taking the commonly prescribed adjuvant therapy known as aromatase inhibitors (AIs) often detailed in these forums troublesome symptoms resulting from the drugs, and they were apt to report discontinuing the treatment or switching to a different drug in the same class.