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Physicians who see patients with mitochondrial disease now have a practical new tool—the first set of published guidelines for managing and caring for those patients. Occurring in at least one in 4,500 individuals, mitochondrial disease is caused by defects in genes affecting the function of mitochondria, crucial energy-producing structures found in every cell. This complex disease can affect nearly every organ or system in the body.

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Researchers investigating pediatric low-grade gliomas (PLGG), the most common type of brain tumor in children, have discovered key biological differences in how mutated genes combine with other genes to drive this childhood cancer. By shedding light on subtle distinctions in tumor biology, these findings offer clues to designing more effective anticancer treatments to precisely target tumors in individual patients.

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The Philadelphia Pediatric Medical Device Consortium (PPDC) has announced its latest round of seed grants to companies developing medical devices for children. The devices are a speech generating system that allows hospitalized children who cannot speak to communicate to clinicians, and a handheld scanner to detect intracranial bleeding in children, without using radiology.

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The Ministry of Health and Prevention of the United Arab Emirates (MOHAP) and Children’s Hospital of Philadelphia (CHOP) today entered into a memorandum of understanding regarding a pediatric specialty consultation program to provide clinical and educational services to MOHAP hospitals.

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Pediatric researchers in the Roberts Collaborative for Genetics and Individualized Medicine at Children's Hospital of Philadelphia have identified common gene variants that raise the risk of developing an aggressive form of the childhood cancer neuroblastoma. The discovery, in the MMP20 gene, may assist doctors in better diagnosing subtypes of neuroblastoma.

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One of the few large studies to report long-term outcomes in cardiac patients treated in childhood with extracorporeal membrane oxygenation (ECMO) has found overall favorable outcomes among survivors, as reported by families. ECMO provides short-term breathing and heart support for critically ill children while doctors treat the underlying illness.

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Among patients who undergo childhood heart surgery for the severe birth defect single-ventricle disease, two-thirds of survivors require a surgical or catheter-based procedure within 20 years. Pediatric cardiology researchers note that doctors should counsel families about the likelihood of re-interventions.

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Children’s Hospital of Philadelphia (CHOP) is proud to announce that Kathy Shaw, MD, MSCE, FAAP, a national leader in the fields of pediatric emergency medicine and quality and patient safety, has received the prestigious Jim Seidel Distinguished Service Award from the American Academy of Pediatrics Section on Emergency Medicine.

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Susan E. Levy, MD, MPH, director of the Regional Autism Center at Children’s Hospital of Philadelphia, is this year’s recipient of the Arnold J. Capute Award, given by the American Academy of Pediatrics (AAP). The award was presented to her today at the AAP conference in Chicago. The Arnold J. Capute Award is presented each year to an AAP member for outstanding contributions in the field of children with disabilities.

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Over 50 experts from Children’s Hospital of Philadelphia will address colleagues at this year’s annual meeting of the American Academy of Pediatrics (AAP) on current issues in vaccine education, autism, sports injuries, gastroenterology, emergency medicine, otolaryngology (ear, nose and throat), telemedicine and neonatology, among others.

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An electronic alert system helps clinicians quickly do a bedside assessment to identify children with severe sepsis in an emergency department. Researchers from Children’s Hospital of Philadelphia report on their efforts to rapidly recognize this life-threatening condition.

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Oncology researchers studying high-risk children’s cancers have identified a protein that offers a likely target for immunotherapy--harnessing the immune system in medical treatments. In cell cultures and animal models, a potent drug attached to an antibody selectively zeroes in on cancer cells without harming healthy cells.

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Scientists at Children’s Hospital of Philadelphia report that a drug candidate that blocks abnormal protein signals may lead to the first pharmacologic treatment for hereditary multiple exostoses (HME), a rare pediatric genetic disease. HME causes multiple, disabling bone outgrowths (called exostoses or osteochondromas) and skeletal deformities, and such drugs could potentially spare patients the prospect of numerous, sometimes difficult childhood surgeries, while also reducing their risk of cancer.

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Mitochondria, the tiny structures inside our cells that generate energy, may play a key role in autism spectrum disorders (ASD). A provocative new study by Children’s Hospital of Philadelphia’s pioneering mitochondrial medicine team suggests that variations in mitochondrial DNA originating during ancient human migrations may play an important role in predisposition to ASD.

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The Center for Data Driven Discovery in Biomedicine at Children’s Hospital of Philadelphia (CHOP) will lead a new, collaborative effort funded by the National Institutes of Health Common Fund to discover the causes of pediatric cancer and structural birth defects through the use of big data. The Center will be known as the “Kids First Pediatric Data Resource Center” (DRC).

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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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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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Researchers studying a DNA-cutting enzyme with a crucial role in regulating the structure of genes have discovered a broad role for its cutting activity in driving abnormal genetic rearrangements called translocations that cause cancer, including leukemias and solid tumors. The findings open possibilities for new clinical approaches.

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Researchers have uncovered how mutations in a protein network drive several high-risk leukemias, offering new prospects for novel therapies. An existing drug might be repurposed to treat these leukemias, and the new understanding of the molecular mechanisms at work may offer clues to other drugs yet to be developed.

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Adolescent drivers with attention-deficit hyperactivity disorder (ADHD) have a 36 percent higher crash risk than other newly licensed teens. Although elevated, this risk is far lower than previous reports of being four times higher. This is the first large-scale study to provide detailed information on crash risk of adolescents with ADHD compared to other newly licensed young drivers.

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A vibrating device, used with a cold pack, relieves a child’s pain while emergency department caregivers insert an intravenous catheter, equally as well as the currently used anesthetic, topical lidocaine. The device can be used quickly, unlike lidocaine, which requires 30 minutes to fully take effect.

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Patients who undergo the Fontan operation as children for a complex congenital heart defect are at risk of developing progressive liver fibrosis, a buildup of fibrous deposits, as a result of the circulation created by the surgery. A research team says their findings underscore the importance of improving ongoing medical surveillance, so that physicians can develop the most appropriate care for their patients.

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Children’s Hospital of Philadelphia is proud to announce that Joseph Rossano, M.D., has been named Chief of the Division of Cardiology, effective this week.

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Adolescent males of color treated for violent injury and discharged from an urban pediatric emergency department overwhelmingly identified a need for mental health care, according to research from Children’s Hospital of Philadelphia’s Violence Intervention Program, published today in the Journal of Adolescent Health.

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How can physicians and engineers help design athletic equipment and diagnostic tools to better protect teenaged athletes from concussions? A unique group of researchers with neuroscience, bioengineering and clinical expertise are teaming up to translate preclinical research and human studies into better diagnostic tools for the clinic and the sidelines—as well as creating the foundation for better headgear and other protective equipment.

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A leading pediatric oncologist at Children’s Hospital of Philadelphia (CHOP), Stephan Grupp, MD, PhD, will become Chief of the Section of Cellular Therapy and Transplant in the Hospital’s Division of Oncology. Grupp, who has researched and led groundbreaking clinical trials of an innovative T cell therapy for children with acute lymphoblastic leukemia (ALL), will assume this position on June 1.

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Douglas C. Wallace, PhD, a world-renowned pioneer in mitochondrial biology at Children’s Hospital of Philadelphia (CHOP), received the 2017 Benjamin Franklin Medal in Life Science on May 4 at the Franklin Institute in Philadelphia.

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Researchers investigating a form of adult-onset diabetes that shares features with the two better-known types of diabetes have discovered genetic influences that may offer clues to more accurate diagnosis and treatment. The study team found that latent autoimmune diabetes in adults (LADA) is genetically closer to type 1 diabetes than to type 2 diabetes.

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As children with single-ventricle disease, a complex and severe heart defect, undergo a series of three reconstructive surgeries, pediatric researchers have detected higher rates of brain abnormalities at each stage. The scientists also found associated changes in the infants’ cerebral blood flow that could offer important clues to improving long-term neurological outcomes in these children.

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A unique womb-like environment designed by pediatric researchers could transform care for extremely premature babies, by mimicking the prenatal fluid-filled environment to give the tiniest newborns a precious few weeks to develop their lungs and other organs.

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Beverly L. Davidson, PhD, a nationally prominent researcher at Children’s Hospital of Philadelphia, has been elected to the 2017 class of the American Academy of Arts and Sciences. The Academy is one of the nation’s oldest learned societies and independent policy research centers.

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Three scientists at Children’s Hospital of Philadelphia who identified and studied a genetic disease have been recognized by having their names attached to the disorder. An authoritative reference site for genetic diseases, Online Mendelian Inheritance in Man (OMIM) now designates this condition as Mulchandani-Bhoj-Conlin syndrome (MBCS), characterized by failure to thrive, severe short stature and profound feeding difficulties, caused by an abnormality of chromosome 20.

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For the first time, researchers have identified before age one which high-risk infants are likely to develop autism. The multicenter study focused on infants who have older siblings with autism spectrum disorder. If replicated, the findings, based on brain MRIs, could set the stage for earlier treatments and better long-term outcomes for these children.

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Mayo Clinic’s Todd and Karen Wanek Family Program for Hypoplastic Left Heart Syndrome and Children’s Hospital of Philadelphia are collaborating to delay and prevent heart failure for hypoplastic left heart syndrome, a rare and complex form of congenital heart disease in which the left side of a child's heart is severely underdeveloped.

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When is it appropriate to treat short children with growth hormone? The answer is not always clear-cut, as many parents and physicians weigh social, medical and ethical concerns. Experts in pediatric endocrinology have issued a new set of guidelines for managing children and teens who have growth failure.

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Critically ill infants and children do not gain extra benefit from control of their blood sugar level to lower levels, compared to higher levels within the usual care range, say researchers who led a national clinical trial. While both levels of blood sugar control were relatively safe, control to lower levels increased the risk of a very low blood sugar (hypoglycemia) without offering a significant advantage.

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It sounds simple and harmless—an electronic sensor attached to a baby’s sock that monitors vital signs and alerts parents on their smart phones if, for instance, an infant’s oxygen saturation level drops. But pediatric experts argue that such devices may cause undue alarm to parents, with no evidence of medical benefits, especially to healthy babies.

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The Philadelphia Pediatric Medical Device Consortium (PPDC) has announced seed grants of $50,000 each to three companies developing medical devices for children. The child-sized devices are a powered orthotic arm brace that amplifies weak nerve signals, a hand-operated rapid blood delivery system for emergency situations and a device that gradually corrects deformed ears in babies.

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Researchers who developed a safe and effective procedure to remove thick clogs in children’s airways are now reporting similar success in adult patients. In this rare condition, called plastic bronchitis, patients develop thick, caulk-like casts that form in the branching paths of their airways.

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Scientists have used systems biology tools to map out molecular pathways and signaling circuits that come into play when the immune system acts against infections and cancer. Important immune cells, called CD8+ T cells, play a pivotal role in immune response, but their gene regulatory circuits have not been well understood.

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Using cardiac imaging during heart surgery can detect serious residual holes in the heart that may occur when surgeons repair a child’s heart defect, and offers surgeons the opportunity to close those holes during the same operation. Pediatric cardiology experts say using this tool, called transesophageal echocardiography (TEE), during surgery may improve outcomes for children with congenital heart disease.

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Nationally, the highest rates of asthma-related deaths and hospitalizations are among low-income minority adults, but most existing research doesn’t focus on these patients. In particular, studies may not investigate patients where they live, in complicated, difficult circumstances. Many adult asthma patients have multiple diseases and exposure to tobacco smoke, but much research reflects the convenience of recruiting patients in clinics and on the relative simplicity of studying patients who do not have accompanying diseases such as hypertension, diabetes, and obesity.

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Only 20 percent of medically diagnosed child abuse and neglect cases in U.S. Army dependent children between 2004 and 2007 were found to have a substantiated report with the Army’s Family Advocacy Program -– the agency responsible for the investigation and treatment of child abuse – according to a new PolicyLab study. This rate is less than half of the rate (44 percent) of medically diagnosed child abuse cases substantiated by civilian Child Protective Services (CPS). Researchers say this contrast raises questions about the Army-reported rates of child abuse, and suggests under-reporting of abuse cases by medical providers and/or a breakdown in communication between civilian CPS and established military services.

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A highly innovative, personalized cell-based treatment for a high-risk form of the most common childhood cancer continues to move through clinical trials. Pediatric oncologists from Children’s Hospital of Philadelphia (CHOP) today reported new results using T cell immunotherapy against relapsed or refractory acute lymphoblastic leukemia (ALL).

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Researchers are reporting the highest and most sustained levels to date of an essential blood-clotting factor IX in patients with the inherited bleeding disorder hemophilia B. After receiving a single dose of an experimental gene therapy in a clinical trial, patients with hemophilia produced near-normal levels of clotting factor IX, allowing them to stop clotting factor infusions and to pursue normal activities of daily life without disabling bleeding episodes.

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Hypertension and prehypertension in children often go undiagnosed, according to a new study published today in Pediatrics. The study focused on children with abnormal blood pressures across the United States, and is the first to show a widespread underdiagnosis of these conditions by pediatricians in children ages 3 to 18.

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Children who suffer cardiac arrest outside a hospital setting are more likely to survive, and to have better neurological outcomes, when they receive bystander cardiopulmonary resuscitation (CPR). Researchers studying a large U.S. registry of cardiac arrests compared outcomes for two bystander resuscitation techniques, and also recommend improving provision of bystander CPR in minority communities to improve outcomes in children.

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Some patients with rare primary immunodeficiency disorders may be at risk for infection by rubella virus, and possibly serious skin inflammation, after receiving the rubella vaccine, usually administered as part of the measles-mumps-rubella (MMR) vaccine. Although the vaccine for rubella (German measles) has an established record of safety and effectiveness in the general population, patients with severe deficiencies in their immune defenses may be susceptible to side effects from the vaccine.