A new study by CHOP Global Health explores the scope and patterns of cerebral palsy in southern Africa, revealing high rates of comorbidities and motor impairments. The research aims to design better prevention and treatment strategies for this lifelong condition in low-resource settings.
CHOP's Dr. Michael Levine has received the Master of the American College of Endocrinology (MACE) Award for his distinguished career in pediatric endocrinology and diabetes research. He is a world authority on the genetics of parathyroid disease and has published over 250 manuscripts, chapters, and reviews.
Researchers discovered a gene candidate that plays a key role in autoimmune diseases such as type 1 diabetes and rheumatoid arthritis. The study found a robust association between the CLEC16A gene region and common variable immunodeficiency disorder.
Researchers use laboratory animals with genetic mutations to test existing human drugs, improving metabolism and lifespan. The study sets the stage for potential innovative therapies for mitochondrial disease.
A new study published in JAMA Pediatrics found that antipsychotic medications may increase the risk of type 2 diabetes in children by nearly 50% when initiating treatment. The study analyzed national Medicaid data and recommended that clinicians consider thoughtful risk-benefit consideration when prescribing these powerful medications ...
Scientists at CHOP use biodegradable nanoparticles to deliver anticancer drugs selectively to tumors, inhibiting growth and prolonging survival in animal models. The approach exploits the EPR effect, allowing for efficient delivery while avoiding toxicity in healthy tissues.
Researchers have successfully treated dogs with hemophilia using a mutant human protein with unusually high blood-clotting power. The treatment eliminated pre-existing antibodies and reversed the bleeding disorder in two years without causing thrombosis or immune reactions.
Researchers from The Children's Hospital of Philadelphia found that infant BMI-childhood obesity relationship is strong in African-American children. A better understanding of infancy growth patterns can lead to more effective early efforts at obesity prevention.
Researchers identified a new genetic syndrome CHOPS, shedding light on the master switch that controls many other genes. The study provides important information to help caregivers manage the disorder and may offer clues to eventually treating it.
Researchers discovered links between a rare gene variant and common variable immunodeficiency (CVID), a serious childhood immune disorder. The finding may lead to highly targeted therapies for patients with the disease.
A study of children with DNA abnormalities on chromosome 16 found a significant delay in processing sound and language, linking the deletion to key biological pathways. The research may lead to future medical treatments for specific subtypes of autism and other neuro disorders.
Research at Cardiology 2015 Conference highlights key findings on brain injury in infants with critical congenital heart disease, reduced radiation exposure in pediatric cardiac cath procedures, improved survival rates with goal-directed CPR, and no link found between pre-operative enteral feeding and NEC in newborn cardiac surgery.
The Philadelphia Pediatric Medical Device Consortium awards $25,000 grants to Little Sparrows Technologies, OtoNexus, and Ras Labs to develop medical devices for children. These companies are working on projects to treat neonatal jaundice, diagnose middle ear infections, and improve prosthetic limb interfaces.
A study by Children's Hospital of Philadelphia reveals that pediatric trauma nurses are knowledgeable about trauma-informed care, but need more training to address the emotional needs of patients and their families. The survey found that over 90% of nurses recognize the importance of psychosocial support, but few report assessing a chi...
A novel treatment approach for Huntington's disease shows promise by adjusting key signaling protein levels in experimental animals. The study improves motor function, reduces brain abnormalities, and promotes metabolic health in mice bred to model the disorder.
The study highlights a state-by-state patchwork of coverage for children and adolescents, excluding services for kids with developmental disabilities. The analysis suggests four policy steps to improve pediatric benefits under the ACA, including revising the essential health benefit standard and incorporating medical necessity.
A new study from Children's Hospital of Philadelphia highlights the need for better planning to improve mother-infant outcomes, reduce stress on health systems, and staff morale. The researchers found that dramatic surges in delivery volume led to overcrowding, understaffing, and fragmented care.
A pilot study shows that 92% of children with relapsed leukemia respond to bioengineered T cells, with some patients remaining cancer-free for over two years. The personalized therapy offers the potential for long-term success in treating this highly aggressive form of acute lymphoblastic leukemia.
Researchers have found four novel loci associated with eosinophilic esophagitis, a severe food allergy. The study suggests that genetic factors play key roles in the disease and may offer attractive targets for therapy. Understanding these biological networks could lead to tailored approaches for treatment.
Researchers presented findings on the use of automated external defibrillators (AEDs) in infants, which showed promise for improving survival rates. Additionally, studies investigated the long-term cardiac risk in survivors of the Fontan operation for congenital heart disease, revealing a significant risk of late myocardial infarction.
Researchers have defined riskier mutations in neuroblastoma, a childhood cancer, which could help match patients with optimal treatment using ALK inhibitors. The study, published in Cancer Cell, analyzed DNA from nearly 1,600 patients and discovered ALK mutations in 8% of tumors.
Researchers will explore biological tools to enhance the immune system's ability to attack HIV infection, which persists in brain cells despite antiviral treatments. The goal is to enable the immune system to eliminate HIV infection through innovative therapies.
A recent study reveals that small changes in mitochondrial function can cause abrupt shifts in disease, including diabetes, autism, and neurodegenerative disorders. The research suggests that mitochondrial energy production plays a crucial role in human health and aging.
A novel procedure using MRI and catheterization techniques eliminated bronchial casts causing respiratory distress in a child with heart disease. The treatment offers new hope for patients with plastic bronchitis, a rare but often fatal complication of pediatric surgery.
A program providing guidance on antibiotic prescribing for children is effective but loses its benefits after auditing and feedback cease. Continued feedback to clinicians is crucial to maintaining proper usage.
A large study has pinpointed synapse genes with major roles in severe childhood epilepsies, providing a new target for treatment strategies. The research identified 429 de novo mutations, including strong evidence for novel genes involved in synapse function.
A gene mutation in ACD has been linked to aplastic anemia by disrupting telomere function and protecting cells from DNA damage. Researchers hope this discovery will lead to new treatments for the disease.
The Children's Hospital of Philadelphia has reported successful results from 100 recent cases of fetal surgery for spina bifida, achieving comparable outcomes to the landmark MOMS trial. The study found improved rates of shunting and pulmonary edema, as well as shorter operative times and decreased transfusion rates.
Researchers use protein-engineering techniques to force chromatin fiber into looped structures that activate genes regulating fetal hemoglobin, which is not affected by the inherited mutation causing sickle cell disease. The approach may give rise to a new therapy for the debilitating blood disorder.
A large new genetic study in thousands of children and adolescents offers early glimpses of the overall patterns and connections among cognitive abilities such as language reasoning, reading skill, and types of memory. The findings may lead to new tools in understanding human cognitive development and neuropsychiatric disorders.
Critically ill infants in the NICU can greatly benefit from human milk, which offers essential immunological and anti-inflammatory properties. This is supported by research and best practices outlined in a special issue of Advances in Neonatal Care, led by CHOP nurse researcher Diane L. Spatz.
A new study found that staff members who joined structured team debriefings after emergency care for children suffering in-hospital cardiac arrests improved their CPR performance. The study also showed substantial increases in patients surviving with favorable neurological outcomes, up to 50 percent among the intervention group.
A study found a link between hot days and an increased risk of patients presenting with kidney stones over the next 20 days. Higher temperatures contribute to dehydration, leading to a higher concentration of calcium and other minerals in urine that promote stone growth.
Pediatric researchers identified gene variants that affect a child's need for pain-control drugs, suggesting personalized medicine for pain control. The study found associations between specific gene variants and increased postoperative pain in children.
A new multicenter study validated a telemedicine approach to screening for retinopathy of prematurity (ROP), a leading cause of treatable blindness in preterm babies. Trained non-physician evaluators accurately identified high-risk eyes, suggesting this method could help prevent thousands of kids from going blind.
A large US study finds that nearly one in 25 babies are born too soon through elective cesarean sections and induced labor without medical indication. This increases the risk of respiratory distress, ventilation, and longer hospital stays for newborns.
A recent gene study has identified a novel biological pathway that affects insulin release in type 1 diabetes. The Clec16a gene plays a critical role in regulating insulin metabolism and acts upon a pathway crucial to insulin secretion.
Researchers have uncovered three gene networks in autism that could lead to new treatments for attention-deficit hyperactivity disorder (ADHD) and schizophrenia. The networks, which affect neurotransmitter signaling, may also provide insights into the biological mechanisms underlying autism.
Dr. Garrett Brodeur's work has significantly advanced our understanding of neuroblastoma, a childhood cancer. His research has led to the development of more effective and less toxic treatments for children.
Dr. Beverly Lange, a retired CHOP oncologist, is honored with the ASPHO Distinguished Career Award for her groundbreaking research on pediatric leukemia. Her contributions have significantly improved treatment outcomes, increasing survival rates to over 55%.
Researchers developed a method to measure nanoparticle degradation in real time using Förster resonance energy transfer, enabling undistorted measurements without separating particles from their environment. This can inform the design of safer and more effective nanoparticles for various medical applications.
A new study reveals that gut microbes play a crucial role in fostering the rapid production of infection-fighting white blood cells in newborns. Exposing mothers and neonatal mice to antibiotics reduced diversity of beneficial gut bacteria, leading to impaired resistance to infection.
The Proband app allows healthcare providers to create digital genetic pedigrees on iPads, streamlining family history data collection and integration. The app's gesture-based interface and auto-alignment feature make it easy for clinicians to draw complex family diagrams, reducing errors and improving patient care.
A recent study by CHOP researcher Brendan J. Keating found that higher BMI raises the risk of type 2 diabetes and high blood pressure, while another study identified genetic signals linked to central adiposity. These findings have significant implications for the obesity pandemic in the US and other countries.
Children who outgrow one type of food allergy may develop another, more severe type to the same food. Eosinophilic esophagitis (EoE) can cause swelling and inflammation in the esophagus, leading to symptoms like weight loss and swallowing difficulties.
A large international study has found 11 new genetic signals linked to blood pressure levels, with 10 of those signals being 'druggable' targets. The discovery offers the possibility of expedited pharmaceutical development of therapeutics for high blood pressure, a serious risk factor for cardiovascular diseases.
A new study using genetic signals has strengthened the case for high triglyceride levels as a cause of heart disease. The findings also suggest that high-density lipoprotein (HDL) cholesterol does not have a protective effect on cardiovascular health, contradicting conventional wisdom.
Dr. Katherine High's groundbreaking research in gene therapy has led to novel approaches to correcting hemophilia, with ongoing studies in a current NIH-funded clinical trial. The E. Donnall Thomas Prize recognizes her remarkable contributions to the field, transforming the notion of using genetically engineered mechanisms for treatment.
Researchers found that feeding mice with branched chain amino acids improved sleep disturbances and restored orexin neurons to normal activity levels, suggesting a dietary treatment for TBI patients. The study provides a proof-of-principle for investigating this intervention as a potential public health benefit.
The Philadelphia Pediatric Device Consortium, led by CHOP and Drexel University, aims to address the shortage of medical devices designed for children. With a $1.5 million FDA grant, the consortium will provide expertise, seed funding, and business support to translate innovative ideas into practical devices.