Children's Hospital of Philadelphia

Psychiatric and substance use disorder polygenic scores are associated with the exposome in youth

Abstract Gene-environment correlations (rGE) present challenges for accurately estimating the individual and joint contributions of genetic and environmental influences on risk for psychiatric and substance use disorders. The present study examined rGE between polygenic risk scor...

Physical activity in young children with cerebral palsy compared to typically developing peers

Higher levels of physical activity have benefits for people of all ages, especially children, yet little is known about physical activity in young children with Cerebral Palsy (CP). The aim of this study was to measure physical activity in young, nonambulatory children with CP co...

Changes in Coronal and Sagittal Plane Alignment After Transphyseal ACL Reconstruction Performed Within Two Years of Skeletal Maturity: Results From the PLUTO Study Group

Background: For patients with open physes approaching skeletal maturity, transphyseal anterior cruciate ligament reconstruction (ACLR) with soft tissue autograft and metaphyseal fixation is often preferred. Although iatrogenic physeal injury is rare, growth disturbances have been...

Using informatics to understand pediatric allergic diseases

PURPOSE OF REVIEW: Recent advances in the power, utility, and accessibility of artificial intelligence (AI) have enabled new methods of investigation in the biomedical sciences and opportunities to transform clinical workflows. As allergic conditions are among the most common chr...

Ecological drivers of Clostridioides difficile disease severity

ABSTRACT Clostridioides difficile infection (CDI) is a common cause of antibiotic-associated diarrhea and arises from disruption of the resident microbiota in the gastrointestinal tract. Despite being a major cause of morbidity and mortality worldwide, CDI presents as a wide spec...

Interim Update on Reactive Infectious Mucocutaneous Eruption ( RIME )

ABSTRACT Reactive infectious mucocutaneous eruption (RIME), a term describing blistering skin and mucosal lesions, is a term coined by a group of Pediatric Dermatology Research Alliance (PeDRA) researchers and first published in 2021. Since that time, the literature has grown wit...

A Kv4.2-mGluR5 complex drives enhanced depotentiation in a mouse model of improved cognitive flexibility

Memory updating promotes cognitive flexibility by enabling suppression of outdated information to optimize behavioral strategies in response to a changing environment. While some circuits involved have been identified, the synaptic mechanisms underlying this process remain uncert...

Congenital Cytomegalovirus Testing Following Pennsylvania Hearing-Targeted Screening Legislation

BACKGROUND: Congenital cytomegalovirus infection (cCMV) occurs in approximately 1/200 to 1/250 US newborns each year and can cause progressive sensorineural hearing loss. Since 2022, Pennsylvania law mandates cCMV testing for infants who fail newborn hearing screening. OBJECTIVES...

A living systematic review, meta-analysis, and open data resource of trials of MDMA-assisted therapy for PTSD

Abstract 3,4-Methylenedioxymethamphetamine (MDMA) has emerged as a potential treatment for post-traumatic stress disorder (PTSD). However, rapidly changing evidence in a fast-moving field can be challenging to integrate. Here, we present a living systematic review and open-data m...

Exploring transcriptomic and genomic latent variable correction approaches in differential expression analysis

Abstract Background Differential expression analysis is a central tool for studying the biological processes altered in human diseases via transcriptomic signatures. However, transcriptomic datasets are systematically confounded by latent variables from two distinct sources: unme...

Managing growth and puberty concerns in individuals with Duchenne muscular dystrophy: Updated guidance and future directions

Long-term glucocorticoid therapy is standard of care for individuals with Duchenne muscular dystrophy (DMD) but often results in impaired growth and delayed or incomplete puberty, impacting their physical and psychosocial health. Although DMD endocrine care has evolved, leading t...

Patterns of Orofacial Cleft Phenotypes and Their Associated Sequelae: A 3-Year Retrospective Study at a Tertiary Referral Hospital in West Africa

Objective To determine the demographic distribution, anatomical patterns and associated complications of orofacial clefts (OFCs) at a major tertiary referral centre in Ghana. Design A retrospective cross-sectional review of patient records. Setting The Cleft Centre of the Oral an...

Beyond the Image: Advanced Ultrasound from Visualization to Quantitative and Precision Diagnosis

Ultrasound has always excelled at showing us what is there [...]

Predicting Underweight Status in Infants With Cleft Lip and/or Palate in 10 US Children's Hospitals

ObjectiveTo develop and compare models predicting which infants with cleft lip and/or palate (CL/P) will be underweight at 4 months, using multicenter electronic health record data.DesignUsing data from birth to 3 months, we evaluated 63 anthropometric, clinical, healthcare-utili...

A narrative review of oral manifestations, genotype–phenotype links, and management in pachyonychia congenita

Objective of study Pachyonychia Congenita (PC) is a rare autosomal dominant genodermatosis caused by mutations in keratin genes (KRT6A, KRT6B, KRT6C, KRT16, KRT17). Oral manifestations are seen in more than half of patients, most often as leukokeratosis, natal teeth, or laryngeal...

Can Psychological Readiness Predict Successful Return to Sports After Patellar Stabilization Surgery in Adolescent Patients? A Retrospective Cohort Study

Background: While many metrics are used to subjectively assess a patient’s knee function with patellofemoral instability (PFI), psychological readiness to return to sport (RTS) after patellar stabilization surgery is not well established in this population. The Anterior Cruciate...

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...

Impact of Extent of Surgical Resection on Survival in Patients With High-risk Neuroblastoma

Objective: The impact of extent of resection of the primary tumor on outcomes in patients with high-risk neuroblastoma (HRNB) remains uncertain. We evaluated this issue in patients with HRNB treated on a prospective trial of multimodality therapy. Summary of Background Data: Pati...

Comparison of prenatal self-report of tobacco use to direct measurement of umbilical cord cotinine

Abstract Objective This study compared maternal self-reports of prenatal tobacco product use with biochemically confirmed cotinine in umbilical cord tissue in newborns exposed to opioids in utero and unexposed controls. Study design Secondary data analysis on 179 pregnant women a...

Antibiotic Choice for Community-Acquired Pneumonia in Children With Medical Complexity

BACKGROUND There are no guideline recommendations for antibiotic choice for community-acquired pneumonia (CAP) in children with medical complexity (CMC). We compared broad- vs narrow-spectrum antibiotics in CMC hospitalized with nonsevere CAP. METHODS This cohort study was conduc...