Pediatric researchers have identified a gene mutation that causes a serious lymphatic condition, and used that knowledge to restore normal lymphatic vessels in model animals. The laboratory findings may lead to a new therapy for patients with this type of abnormal lymphatic circulation. Abnormal lymphatic flow may cause respiratory distress and other serious symptoms.
Neurology researchers investigating a rare but devastating neurological regression in infants have discovered the cause: gene mutations that severely disrupt crucial functions in mitochondria, the energy-producing structures within cells. The specific disease mechanism has not previously been implicated in a human disease.
Researchers have discovered a “missing mutation” in severe infant epilepsy–long-suspected genetic changes that might trigger overactive, brain-damaging electrical signaling leading to seizures. They also found early indications that specific anti-seizure medications might prevent disabling brain injury.
Physician-researchers from the Cardiac Center at Children’s Hospital of Philadelphia (CHOP) presented new findings on pediatric cardiovascular disease at the American College of Cardiology’s 67th Annual Scientific Session & Expo 2018 in Orlando, Fla. Among many abstracts presented were emergency department visits in patients with congenital heart disease, social risk factors for readmission, factors predicting mortality after prolonged critical illness and more.
Defects in mitochondria, the tiny structures that power our cells by functioning as biological batteries, cause an array of complex, often life-threatening disorders that can affect any and all organs and systems. In the absence of validated, effective drug treatments, patients with mitochondrial disease often take a variety of vitamins and supplements, substances that are largely unstandardized, unregulated, and unproven. A group of medical experts recommend performing systematic scientific stu…
A team of gene therapy researchers has reported positive results in a phase 1/2 clinical trial for the inherited bleeding disorder hemophilia B. A single intravenous infusion of a novel bioengineered gene therapy treatment enabled adult participants to safely produce sustained levels of clotting factor that prevented debilitating bleeding episodes. Patients were able to terminate prophylactic treatments–the gene therapy nearly universally eliminated their need for intravenous infusions of manuf…
The first child to undergo a successful hand transplant also is the first child in whom scientists have detected massive changes in how sensations from the hands are represented in the brain. The brain reorganization is thought to have begun six years before the transplant, when the child had both hands amputated because of a severe infection during infancy. Notably, after he received transplanted hands, the patient’s brain reverted toward a more typical pattern.
Infants with various forms of congenital heart disease require a stable source of blood flow to their lungs in order to survive until a more definitive operation can be performed. In a recent study, pediatric researchers compared two methods to provide that flow: a shunt to reroute blood and an implanted stent to maintain an open path for blood flow. They found that stents were preferable for selected patients.
Mindfulness may offer an active coping mechanism for mothers faced with the stress of having a newborn diagnosed with congenital heart disease (CHD). Mindfulness, which aims to increase a person’s awareness and acceptance of daily experiences, is currently used in a variety of healthcare settings as a potentially effective skill for stress reduction, emotion, affect and attention regulation.
For a variety of reasons, medications and devices specifically developed for children have traditionally lagged behind similar products for adults. A new federally funded program intends to address these unmet medical needs by improving quality and efficiency in developing innovative pediatric medicines and devices. The program is launching a new global clinical trials network to strengthen the development of innovative pediatric treatments and devices.
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.
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.
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.
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.