Increased serum GM-CSF at diagnosis of biliary atresia is associated with improved biliary drainage.

Background: The immune heterogeneity of biliary atresia (BA) presents a challenge for development of prognostic biomarkers. This study aimed to identify early immune signatures associated with biliary drainage after Kasai Portoenterostomy (KPE).

Methods: Serum samples, liver slides, and clinical data were obtained from patients enrolled in the NIDDK-supported Childhood Liver Disease Research Network.

Hallmark discoveries in the biology of non-Wilms tumour childhood kidney cancers.

Approximately 20% of paediatric and adolescent/young adult patients with renal tumours are diagnosed with non-Wilms tumour, a broad heterogeneous group of tumours that includes clear-cell sarcoma of the kidney, congenital mesoblastic nephroma, malignant rhabdoid tumour of the kidney, renal-cell carcinoma, renal medullary carcinoma and other rare histologies. The differential diagnosis of these tumours dates back many decades, when these pathologies were identified initially through clinicopathological observation of entities with outcomes that diverged from Wilms tumour, corroborated with immunohistochemistry and molecular cytogenetics and, subsequently, through next-generation sequencing. These advances enabled near-definitive recognition of different tumours and risk stratification of patients.

Anaphylaxis definition, overview, and clinical support tool: 2024 consensus report.

Background: The 2006 National Institute of Allergy and Infectious Disease/Food Allergy and Anaphylaxis Network (NIAID/FAAN) anaphylaxis criteria are widely used in clinical care and research. In 2020, the World Allergy Organization (WAO) published modified criteria that have not been uniformly adopted. Different criteria contribute to inconsistent care and research outcomes.

Transforming Transplantation Access: A Federal Directive for Comprehensive Pre-Waitlisting Data Collection.

There is substantial variation in access to transplantation across the United States that is not entirely explained by the availability of donor organs. Barriers to transplantation and variation in care among patients with end-stage organ disease exist prior to patients' placement on a transplant waiting list as well as following waitlist placement. However, there are currently no national data available to examine rates and variations in key care processes related to pre-listing, including transplant referral, evaluation, or candidate selection.

Naxos Disease and Related Cardio-Cutaneous Syndromes.

Naxos disease is a rare autosomal recessive condition combining arrhythmogenic right ventricular cardiomyopathy, woolly hair, and palmoplantar keratoderma. The first identified causative variant was in the gene encoding the desmosomal protein plakoglobin. Naxos disease exhibits fibro-fatty myocardial replacement with immunohistological abnormalities in cardiac protein and signaling pathways, highlighting the role of inflammation and potential anti-inflammatory treatments.

Environment scan of generative AI infrastructure for clinical and translational science.

This study reports a comprehensive environmental scan of the generative AI (GenAI) infrastructure in the national network for clinical and translational science across 36 institutions supported by the CTSA Program led by the National Center for Advancing Translational Sciences (NCATS) of the National Institutes of Health (NIH) at the United States. Key findings indicate a diverse range of institutional strategies, with most organizations in the experimental phase of GenAI deployment. The results underscore the need for a more coordinated approach to GenAI governance, emphasizing collaboration among senior leaders, clinicians, information technology staff, and researchers.

Comparative analysis of ambient, in-home, and personal exposures reveals associations between breathing zone pollutant levels and asthma exacerbations in high-risk children.

Background: Air pollution is associated with poor asthma outcomes in children. However, most studies focus on ambient or indoor monitor pollution levels. Few studies evaluate breathing zone exposures, which may be more consequential for asthma outcomes.

Provider perception of the acceptability, appropriateness, and feasibility of a transdiagnostic intervention in a youth partial hospitalization setting: A mixed methods implementation process evaluation.

Partial hospitalization programs (PHPs) are increasingly relied upon to provide intensive mental health treatment for youth with acute and severely impairing mental health symptoms, yet very few interventions have been adapted to fit this unique delivery context. Transdiagnostic treatments hold promise for addressing the complex clinical presentations and workflow needs of PHP programs, but more work is needed to understand factors that influence successful implementation. We conducted a formative implementation process evaluation to identify barriers and facilitators of acceptability, appropriateness, and feasibility of implementing an evidence-based transdiagnostic intervention in a PHP setting and further targets for intervention and implementation adaptation.

Virtual 3D reconstruction of complex congenital cardiac anatomy from 3D rotational angiography.

Background: Despite advancements in imaging technologies, including CT scans and MRI, these modalities may still fail to capture intricate details of congenital heart defects accurately. Virtual 3D models have revolutionized the field of pediatric interventional cardiology by providing clinicians with tangible representations of complex anatomical structures. We examined the feasibility and accuracy of utilizing an automated, Artificial Intelligence (AI) driven, cloud-based platform for virtual 3D visualization of complex congenital heart disease obtained from 3D rotational angiography DICOM images.

Diversity of complementary diet and early food allergy risk.

Introduction: Diet diversity (DD) in infancy may be protective for early food allergy (FA) but there is limited knowledge about how DD incorporating consumption frequency influences FA risk.

Methods: Three measures of DD were investigated in 2060 infants at 6 and/or at 9 months of age within the NorthPop Birth Cohort Study: a weighted DD score based on intake frequency, the number of introduced foods, and the number of introduced allergenic foods. In multivariable logistic regression models based on directed acyclic graphs, associations to parentally reported physician-diagnosed FA at age 9 and 18 months were estimated, including sensitivity and stratified analyses.

Estimating the generation time for influenza transmission using household data in the United States.

The generation time, representing the interval between infections in primary and secondary cases, is essential for understanding and predicting the transmission dynamics of seasonal influenza, including the real-time effective reproduction number (Rt). However, comprehensive generation time estimates for seasonal influenza, especially since the 2009 influenza pandemic, are lacking. We estimated the generation time utilizing data from a 7-site case-ascertained household study in the United States over two influenza seasons, 2021/2022 and 2022/2023.

Evaluation of the Pediatric Regional Anesthesia Time-Out Checklist: A Simulation Study.

Introduction: The Society for Pediatric Anesthesia Quality and Safety Committee developed the Pediatric Regional Anesthesia Time-Out Checklist, consisting of 14 safety items intended to be reviewed by an anesthesia team prior to a regional anesthetic. Primarily, we hypothesized that use of this Checklist would increase the number of safety items performed compared with no checklist, evaluating the usefulness of this tool. Secondarily, we hypothesized that, after checklist training, subjects would show better clinical judgment by electing to perform a regional anesthetic in scenarios in which no programmed error existed and electing to not perform a regional anesthetic in scenarios in which a programmed error did exist.

A randomized, placebo-controlled, cross-over trial of ketamine in Rett syndrome.

Background: Preclinical studies and anecdotal case reports support the potential therapeutic benefit of low-dose oral ketamine as a treatment of clinical symptoms in Rett syndrome (RTT); however, no controlled studies have been conducted in RTT to evaluate safety, tolerability and efficacy.

Design: This was a sequentially initiated, dose-escalating cohort, placebo-controlled, double blind, randomized sequence, cross-over study of oral ketamine in 6-12-year-old girls with RTT to evaluate short-term safety and tolerability and explore efficacy.

Methods: Participants were randomized to either five days treatment with oral ketamine or matched placebo, followed by a nine-day wash-out period and then crossed-over to the opposite treatment.

Phospho-flow cytometry assays for diagnostic use - A discussion of assay utility and assay development and validation challenges.

Detection of changes in phosphorylation of cell signaling molecules using flow cytometry is termed "phosphoflow" or "phospho-flow cytometry". Phosphoflow has wide application for basic research into the mechanics of cell signaling, for evaluating aberrant signaling in cancerous cells and tissues, for studying efficacy or off-target effects during drug and vaccine development, and for functional assessment of pathogenic variants of genes that are known to play a role in development or function of the immune system. Phosphoflow has not been widely adopted in clinical laboratories owing to the challenges with developing and validating robust assays consistent with clinical laboratory regulatory standards.

Paediatric strategy forum for medicinal product development in diffuse midline gliomas in children and adolescents ACCELERATE in collaboration with the European Medicines Agency with participation of the Food and Drug Administration.

Fewer than 10 % of children with diffuse midline glioma (DMG) survive 2 years from diagnosis. Radiation therapy remains the cornerstone of treatment and there are no medicinal products with regulatory approval. Although the biology of DMG is better characterized, this has not yet translated into effective treatments.

One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them.

Leukopoiesis is lethally arrested in mice lacking the master transcriptional regulator PU.1. Depending on the animal model, subtotal PU.

Multiplex Polymerase Chain Reaction Versus Standard Bacterial Culture in Critically Ill Children With Suspected Pneumonia.

Background: Bacterial lower respiratory tract infection, particularly ventilator-associated pneumonia (VAP), is a significant cause of morbidity and mortality in children who require mechanical ventilation (MV). Microbiologic diagnosis has relied on bacterial culture, but reverse transcriptase polymerase chain reaction (RT-PCR) with bacterial targets is now available for clinical use. We compared the diagnostic performance of tracheal aspirate (TA) multiplex RT-PCR to culture in children requiring MV with suspected lower respiratory tract infection.

Ethnic and racial differences in children and young people with respiratory and neurological post-acute sequelae of SARS-CoV-2: an electronic health record-based cohort study from the RECOVER Initiative.

Background: Children from racial and ethnic minority groups are at greater risk for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, but it is unclear whether they have increased risk for post-acute sequelae of SARS-CoV-2 (PASC). Our objectives were to assess whether the risk of respiratory and neurologic PASC differs by race/ethnicity and social drivers of health.

Methods: We conducted a retrospective cohort study of individuals <21 years seeking care at 24 health systems across the U.

KDIGO 2025 clinical practice guideline for the evaluation, management, and treatment of autosomal dominant polycystic kidney disease (ADPKD): executive summary.

The Kidney Disease: Improving Global Outcomes (KDIGO) 2025 Clinical Practice Guideline for the Evaluation, Management, and Treatment of Autosomal Dominant Polycystic Kidney Disease (ADPKD) represents the first KDIGO guideline on this subject. Its scope includes nomenclature, diagnosis, prognosis, and prevalence; kidney manifestations; chronic kidney disease (CKD) management and progression, kidney failure, and kidney replacement therapy; therapies to delay progression of kidney disease; polycystic liver disease; intracranial aneurysms and other extrarenal manifestations; lifestyle and psychosocial aspects; pregnancy and reproductive issues; pediatric issues; and approaches to the management of people with ADPKD. The guideline has been developed with patient partners, clinicians, and researchers around the world, with the goal to generate a useful resource for healthcare providers and patients by providing actionable recommendations.

Third Proceedings of The North American Airway Collaborative (NoAAC): Consensus Statement on Trial Design for Airway Stenosis.

Importance: Airway stenosis is a rare but debilitating disorder that significantly degrades the quality of life in affected patients. Treatments are primarily surgical, and disease management lacks established medical therapies. The North American Airway Collaborative held its third symposium at The Johns Hopkins Hospital in Baltimore, Maryland, on April 15, 2024, focused on strategies to advance the care of these patients.

Quality of Psychiatric Care for Immigrants and People With a Non-English Language Preference: A Systematic Scoping Review.

Objective: Immigrants and persons with a non-English language preference (NELP) face unique challenges in the mental health care system. This systematic scoping review aimed to evaluate the literature for disparities in psychiatric care delivery, beyond access and utilization barriers, experienced by these two populations.

Methods: The authors queried four databases: PubMed, PsycInfo, Web of Science, and CINAHL.

Cost-effectiveness of watchful waiting versus immediate emergency department transfer after epinephrine autoinjector use in Canada.

Background: Until recently, immediate emergency department (ED) transfer after food-related anaphylactic reactions was recommended regardless of symptom resolution following use of an epinephrine autoinjector (EAI). We evaluated the cost-effectiveness of delayed ED transfer after EAI use in non-medical settings (watchful waiting) compared to immediate ED transfer among pediatric patients with food allergies in Canada.

Methods: We developed a probabilistic Markov model of individuals starting at age of one year who are at risk of severe food-related allergic reactions requiring epinephrine.

Recent advances in the management of pediatric cholestatic liver diseases.

Pediatric cholestatic liver diseases are rare conditions that can result from multiple specific underlying etiologies. Among the most common etiologies of pediatric cholestatic liver diseases are biliary atresia, Alagille syndrome (ALGS), and inherited disorders of bile acid transport. These diseases are characterized by episodic or chronic unremitting cholestasis.