Children's Hospital of Philadelphia

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...

Care of the Infant With Congenital Cytomegalovirus Infection: Clinical Report

This clinical report addresses recognized knowledge gaps regarding congenital CMV infection (cCMV) in infants and expands on information present in the 2024-2027 Red Book. The clinical report reviews the epidemiology of cCMV, clinical manifestations of cCMV disease and cCMV with...

Do Autistic Adolescents Talk Differently in Same-Sex Versus Mixed-Sex Conversations?

Autistic individuals often struggle with social communication, but the nature of each person’s difficulties varies substantially by context. Recent conversation-based research suggests that males and females (autistic and nonautistic) produce subtle but consistent differences in...

SLC7A6OS Founder Mutation: A Rare Cause of Progressive Myoclonus Epilepsy Dated to 1100 Years Ago

BACKGROUND: SLC7A6OS c.191A>G is a rare, autosomal recessive cause of progressive myoclonus epilepsy (PME). The c.191A>G variant, first discovered in two families from Türkiye and Portugal, was recently identified in three additional probands from the USA, all of Puerto Rican anc...

Patient-reported Outcomes Measurement Information System Score Analysis in Diagnosis and Treatment Evaluation of Pediatric Disc Herniation Patients: A Preliminary Study

BACKGROUND: Compared with adults, children with intervertebral disc herniation often face delayed diagnoses due to atypical presentations and symptom overlap with other musculoskeletal disorders. While non-operative treatments such as physical therapy and NSAIDs are typically fir...

Accuracy and Disparities in Pediatric Emergency Triage: A Multicenter Retrospective Cohort Study

OBJECTIVES: To assess the accuracy of the Emergency Severity Index (ESI) in correctly stratifying high-risk pediatric patients and predicting resource use across multiple pediatric emergency departments (EDs), and to identify patient and environmental factors associated with tria...

Health Care for Immigrant Children: Discussing Birth Country During Pediatric Appointments

Information about a child's country of birth (also called nativity) is highly relevant to pediatric care, as it informs the recommendations pediatricians will make regarding screening for serious conditions such as elevated blood lead levels, viral hepatitis, and tuberculosis. Ho...

Population-Associated Molecular Variation in Histologically Normal Breast Tissue Is Associated with Distinct Baseline Transcriptional States

Population-associated molecular variation in breast tissue may contribute to differences in tissue biology and disease susceptibility. Still, the extent to which such variation is shaped by underlying tissue state remains unclear. We performed a pilot RNA-seq and lipidomic analys...

Impact of post‐chemotherapy classification on outcomes in stage III and IV unilateral favorable histology Wilms tumor: Pooled data from Children’s Oncology Group AREN0532, AREN0533, and AREN03B2 studies

Abstract Background Improvements in therapy for patients with favorable histology Wilms tumor (FHWT) have relied on refinement of risk stratification for therapeutic assignment through identification of favorable and unfavorable prognostic factors. Although well established in In...

Increasing Rounds Participation for Caregivers Who Prefer a Language Other Than English

OBJECTIVES: For patients admitted to our hospital medicine resident services, we found that caregivers who were present at bedside and who preferred a language other than English (LOE) participated in family-centered rounds (FCRs) 53% of the time compared with 92% for English-pre...

High-grade astrocytoma with piloid features: a clinical and genomic analysis of prognostic factors using a large cohort

BACKGROUND: High-grade astrocytoma with piloid features (HGAP) is a recently defined tumor type that is not well-understood. Prognostic factors of clinical outcomes are not well-established. METHODS: Methylation profiling was performed on tumor samples, many at the National Cance...

A Scoping Review of Psychological Distress Outcomes in NICU Healthcare Providers

The Neonatal Intensive Care Unit (NICU) is a demanding work environment that provides medical care for acutely ill and premature infants while supporting parents experiencing significant stress and psychological distress. This scoping review is the first to examine quantitative r...

Precision Medicine 3.0: Integrating Genomic Stratification with Adaptive Therapeutic Trajectories

Complex diseases require therapeutic decisions that adapt as the disease evolves over time and in response to treatment. Current precision medicine remains largely centered on selecting an individual drug or predefined regimen from molecular characteristics measured at a particul...

National Outcomes of Sepsis in Publicly Insured Children: 2021–2023

OBJECTIVE To identify incidence and factors associated with sepsis mortality. METHODS We conducted a cohort study of all US publicly insured children younger than age 19 years hospitalized with a diagnosis code–based definition of sepsis in 2021–2023 using the Transformed Medicai...

Biliary complications in pediatric living donor liver transplantation: An international multicenter analysis of risk and prognostic factors

Biliary reconstruction is often considered the Achilles’ heel of liver transplantation, yet risk factors and outcomes remain poorly defined, particularly in pediatric living donor liver transplantation (LDLT). This international multicenter study aims to identify predictors of bi...

Reducing Inequities in Restraint Use in the Pediatric Emergency Department

BACKGROUND AND OBJECTIVES: Restraints are used in emergency departments to treat acute agitation and prevent harm but can cause injury. Local data demonstrated racial and ethnic disparities in restraint use. Of non-Hispanic Black and Hispanic patients, 2.7% were physically restra...

Prescription Patterns of Cardiovascular Medications in the Adolescent and Adult Population With Fontan Circulation—A Report From the Multicenter Single Ventricle Outcomes Network

BACKGROUND: There are limited data on prescription patterns in adolescents and adults with Fontan circulation. METHODS: We conducted a retrospective analysis of patients 13 years of age and older enrolled between 2022 and 2024 in the Fontan Outcomes Network (now SV-ONE [Single Ve...

Responding With Evidence and Access for Childhood Headaches ( REACH ) study: A comparative effectiveness trial of cognitive behavioral therapy monotherapy versus combined cognitive behavioral therapy–pharmacotherapy with amitriptyline for the prevention of childhood migraine—The study protocol

Migraine is one of the most common chronic health problems in children and adolescents, resulting in high levels of functional disability. Symptoms frequently persist into and impact the course of adulthood for affected individuals. Current practice recommendations include a comb...

Health equity and unintentional pediatric cannabis ingestion

Abstract Background Unintentional pediatric cannabis ingestion has been rising following medical and recreational legalization. In this study, we aimed to examine the epidemiology of pediatric cannabis ingestion following legalization and to assess the impact of demographic and s...

Early-life colonization with Clostridioides difficile remodels the developing gut

Clostridioides difficile causes severe disease in adults but commonly colonizes infants asymptomatically. The consequences of early-life colonization on host development remain unknown. In a neonatal mouse model, C. difficile colonization drove proinflammatory and tissue repair r...