Children's Hospital of Philadelphia

Aberrant erythrocyte rigidity in JAK2 V617F myeloproliferative neoplasms underlies concurrent thrombosis and hemorrhage

Thrombotic events are the leading cause of death in myeloproliferative neoplasms (MPNs) driven by the JAK2 Val 617 →Phe (JAK2V617F) mutation. We investigated how JAK2V617F alters hemostasis and thrombosis in humans and in lineage-specific knockin mice to test whether red blood ce...

AASLD EXPO: Liver biopsy

Background: Liver biopsy is a foundational tool in hepatology, providing direct histologic assessment of hepatic parenchyma. Although noninvasive approaches have substantially reduced the need for biopsy in practice, it continues to play a critical role in diagnosis, staging, and...

Clinical Trial: Dupilumab Improves Eosinophilic Oesophagitis Outcomes Versus Placebo Regardless of Comorbidities or Treatment History in a Randomised Clinical Trial

BACKGROUND: Patients with eosinophilic oesophagitis (EoE) can present with differing disease characteristics, treatment resistance, and associated type 2 inflammatory comorbidities. We assessed the efficacy of dupilumab in subgroups of patients with EoE from the LIBERTY EoE TREET...

CfDNA methylation profiling in blood following moderate-to-severe traumatic brain injury using brain cell type–enriched signatures: A pilot study

The human brain consists of diverse cell types that collaboratively perform complex functions and form intricate neuronal networks. When traumatic brain injury (TBI) occurs, multiple molecular pathways involving diverse cell types are activated in response to injury. Understandin...

Barriers to Reducing Subthreshold Phototherapy for Neonatal Jaundice

OBJECTIVE: In a national, multicenter quality improvement (QI) collaborative to reduce subthreshold inpatient phototherapy, the proportion of subthreshold encounters was high at baseline and remained high after the intervention period. This study aimed to assess why clinicians st...

Acute Kidney Injury After Extracorporeal Membrane Oxygen in Children: Phenotypes and Prognosis in a Single-Center Cohort, 2020–2023

OBJECTIVES: To evaluate the association between acute kidney injury (AKI) phenotypes and major adverse kidney events at 30 days (MAKE30) after initiating extracorporeal membranous oxygenation (ECMO). DESIGN: Retrospective cohort study. SETTING: Neonatal, pediatric and cardiac cri...

Organizational Factors Impacting Implementation of Evidence-based Practices for Autistic Youth: A Mixed Methods Evaluation of Virginia’s Community Mental Health System

Abstract Despite elevated rates of co-occurring mental health needs among autistic youth, availability of and access to mental and behavioral health evidence-based practices (EBPs) remain limited in U.S. community-based settings. Further, community-based service systems are compl...

Child and Adolescent All-Cause Mortality in the United States vs Peer Nations: 1935–2023

BACKGROUND: Children in the United States experience higher all-cause mortality than high-income peer nations, but the timing, durability, and age and sex contributions to this gap remain unclear. OBJECTIVES: To characterize the timing, persistence, and age- and sex-specific patt...

A global study of novel agents in paediatric and adolescent relapsed and refractory B-cell non-Hodgkin lymphoma (Glo-BNHL): protocol for an adaptive international platform clinical trial

The second Paediatric Strategy Forum of the international multi-stakeholder organisation, ACCELERATE (Nov-2017), concluded that an international approach to conducting clinical trials in relapsed and refractory paediatric B-cell non-Hodgkin lymphoma (r/r B-NHL) was critical and t...

The Childhood Liver Disease Research Network's prospective characterization of pediatric primary sclerosing cholangitis.

BACKGROUND: Primary sclerosing cholangitis (PSC) is a rare biliary fibrosing disease that leads to significant morbidity and the need for liver transplantation. The Childhood Liver Disease Research Network is conducting a prospective, observational longitudinal study to define th...

Clinical Practice Guideline for the Diagnosis and Treatment of Urinary Tract Infection in Children From 8 Days to 5 Years of Age

Urinary tract infection (UTI) is one of the most common bacterial infections in infants and young children, with a prevalence of 7% in infants with fever. This clinical practice guideline (CPG) provides an update of the literature and clinical recommendations of the 2011 American...

The Mader model of muscle energy metabolism simulates key metabolic exercise phenomena

Energy metabolism matches adenosine triphosphate (ATP) resynthesis to hydrolysis even during abrupt transitions such as exercise onset. In 1984, Alois Mader proposed a mechanistic model that captures this regulation through 33 coupled differential equations linking oxidative phos...

Assessing residual bias in real-world vaccine effectiveness studies: validating negative controls to avoid misleading results

Observational studies and randomized controlled trials demonstrate that vaccines protect against infections and severe outcomes, but real-world vaccine effectiveness estimates remain vulnerable to residual biases. Negative control outcomes can help detect and mitigate such biases...

Distal humeral physeal separation: radiographic findings in infants and toddlers

Abstract Background Distal humeral physeal separation is an uncommon but frequently misdiagnosed injury of the immature elbow in infants and toddlers that carries a strong association with non-accidental trauma; its largely unossified anatomy makes radiographic diagnosis challeng...

Endoscopic Endonasal Transclival Approach to Pontine Cavernous Malformations in the Pediatric Population

BACKGROUND AND OBJECTIVES: Brainstem cavernous malformations (CMs) carry high hemorrhage risk and morbidity due to their eloquent location. Although modern microsurgical approaches emphasize safe entry zones, endoscopic endonasal transclival approaches (EETA) have emerged as a le...

Diagnostic Yield of Sequencing in Prenatal Agenesis of the Corpus Callosum in a Well‐Phenotyped International Cohort

ABSTRACT Objective To evaluate the incremental diagnostic yield of sequencing in a large, well‐phenotyped international cohort of fetuses with prenatally diagnosed agenesis of the corpus callosum (ACC) and to identify associated genes and variants. Methods Retrospective multicent...

Six-month mental health outcomes among participants in a postpartum care in the NICU (PeliCaN) trial: secondary analysis of a randomized controlled trial

Parents of infants admitted to the neonatal intensive care unit (NICU) face barriers to postpartum care and are at risk for adverse mental health outcomes. The Postpartum Care in the Neonatal Intensive Care Unit (PeliCaN) study evaluated a novel doula-coordinated, midwife-deliver...

Perceptions of Secure Messaging and Patient Safety: Results of an Interprofessional Survey

BACKGROUND AND OBJECTIVES: Communication technology within pediatric health care systems is rapidly evolving and has the potential to affect safety culture. After implementing a secure messaging communication platform at our quaternary care hospital, we aimed to evaluate the new...

Age-Associated Cognitive Deviations in Early-Onset Psychosis Patients and Their Siblings

OBJECTIVE: The objective of this study was to test for cognitive impairments and cross-sectional age-associated cognitive deviations in a large, diagnostically diverse, cross-sectional sample of children and adolescents with early-onset psychosis (EOP), their siblings, and nonpsy...

Characterization of Large-Scale Mitochondrial DNA Rearrangements Using Complementary Short- and Long-Read Sequencing Approaches

Background: Large-scale mitochondrial DNA (mtDNA) rearrangement, including deletion or duplication, is one of the important causes of primary mitochondrial disease. In clinical practice, short-read sequencing (SRS)-based assays typically detect these rearrangements by identifying...