ALSF Epidemiology Grant, Button Battery Guidelines, PolicyLab Anniversary, EHR-Phenolyzer, Distracted Driving

New Software Tool May Streamline Genetic Diagnoses

A novel software tool developed by Kai Wang, PhD, a data scientist at CHOP's Department of Biomedical and Health Informatics, could help children with undiagnosed hereditary diseases find answers by expediting and improving genetic diagnoses. The tool, which Dr. Wang and his fellow scientists call the EHR-Phenolyzer, rapidly extracts relevant information from patients’ electronic health records (EHR) and translates that data to correlate with often-puzzling genetic diseases. The software aims to efficiently bridge patient data to the continuously increasing mass of genomic data.

“Our goal is to reduce the duration, uncertainty, and costs of the ‘diagnostic odyssey’ experienced by many affected children and their families, and to help guide them more quickly to the most appropriate clinical care,” said Dr. Wang, who conducted most of the initial research on the EHR-Phenolyzer tool with his team at Columbia University before joining CHOP.

In four separate cohorts of adults and children with suspected or diagnosed genetic diseases, the disease-causing mutations appeared in the EHR-Phenolyzer’s top 100 candidate genes (and in some, the top 10) in more than half of the individuals. The researchers reported their findings in the American Journal of Human Genetics.

Learn more in the press release.

National Guidelines Recommend Honey After Swallowing Button Battery

After a landmark study from ear, nose, and throat experts at CHOP identified honey as an effective remedy to reduce button battery injuries, the National Poison Center have updated their guidelines to encourage parents to administer honey en route to the hospital after their child swallows a button battery. There are more than 2,500 cases of children swallowing button batteries per year in the U.S., and swallowing the tiny, smooth discs can lead to severe complications like vocal cord paralysis and esophageal perforation. Though a specialized team must remove button batteries at the hospital as soon as possible, the study, published in The Laryngoscope, sought to identify common household liquids that might rapidly protect against the battery’s caustic effects in the meantime.

“While the first thing to do is to make sure a child who is believed to have swallowed a button battery gets to the hospital, this new guideline, based on our study, is better than doing nothing,” said Ian Jacobs, MD, the study’s co-leader and director of the Center for Pediatric Airway Disorders in a press release. “We found that honey can reduce esophageal injury in the critical time between ingestion and when a child is able to have the battery properly removed.”

Learn more in the press release.

Save the Date: PolicyLab 10th Anniversary Forum

To celebrate 10 years of conducting impactful research that effectively informs health policy and practice, PolicyLab, one of the Research Institute’s Centers of Emphasis, will host a 10^th Anniversary Forum Oct. 22. The “Charting New Frontiers in Children’s Health Policy and Practice Forum” will take place at the National Museum of American Jewish History in Philadelphia.

The full-day event will gather regional and national leaders in children’s health policy in a dynamic space to outline innovative solutions for advancing child, adolescent, and family health and well-being over the next decade. Some of the topics listed in the current agenda include transforming juvenile justice to improve youth outcomes, aligning health insurers and systems to improve population health, and achieving health equity for youth.

Learn more and register now at PolicyLab’s website. And read an engaging guest blog post about PolicyLab’s anniversary from Director David Rubin, MD, MSCE, and Deputy Director Meredith Matone, DrPH, MHS, on Cornerstone.

CIRP Study Offers New Insights Into Parental Cell Phone Use While Driving

New research published yesterday in the Journal of Pediatrics sheds light on the risky driving behaviors parents or caregivers might engage in while driving with their children in the car. With crash fatalities and injuries caused by distracted driving a public health crisis in the U.S., the team of researchers from the Center for Injury Research and Prevention (CIRP) and Penn Nursing wanted to identify the specific factors associated with a parent’s cell phone-related distracted driving. They analyzed the self-reported distracted driving behaviors of parents with children ages 4 to 10 and found that, in the previous three months, about half of parents reported talking on a cell phone while driving with their child in the car. One in three reported reading text messages, and one in seven reported using social media. The study used an online sample of 760 adults from 47 states.

“Technology has become increasingly intertwined with our daily lives,” said the study’s lead author Catherine McDonald, PhD, RN, FAAN, a senior fellow at CIRP and assistant professor of nursing at Penn Nursing, in a press release. “The results from this research reinforce that risky driving behaviors rarely occur in isolation, and lay the groundwork for interventions and education specifically aimed at parents who drive with young children in their cars.”

Learn more in the press release and in this Research in Action blog.

ICYMI

Recently on Cornerstone, we met our July Research Heroes for brain tumor research, the Eaise Family, and took a snapshot of new research into the potential role of oral antibiotics in kidney stone prevalence.

Catch up on our headlines from our June 29 edition of In the News:

• Convergent Science Bridges Neuroscience with Driving Research
• CAR Analysis Describes Role of Brain’s Reward Circuit in ASD
• CHOP Research Featured at Pediatric Orthopedic Society of North America Annual Meeting
• Dr. Diva De León-Crutchlow Named Chief of Endocrinology and Diabetes

Keep up with our news, stories, and updates in real time by following us on Twitter, Facebook, LinkedIn, or Instagram. Or subscribe to our newsletter to get an email sent every other Friday by signing up here.