The American Association for Thoracic Surgery (AATS) 2023 Expert Consensus Document: Recommendation for the care of children with trisomy 13 or trisomy 18 and a congenital heart defect.

Objectives: Recommendations for surgical repair of a congenital heart defect in children with trisomy 13 or trisomy 18 remain controversial, are subject to biases, and are largely unsupported with limited empirical data. This has created significant distrust and uncertainty among parents and could potentially lead to suboptimal care for patients. A working group, representing several clinical specialties involved with the care of these children, developed recommendations to assist in the decision-making process for congenital heart defect care in this population.

Three-dimensional Liver Model Application for Liver Transplantation.

Background: Children are removed from the liver transplant waitlist because of death or progressive illness. Size mismatch accounts for 30% of organ refusal. This study aimed to demonstrate that 3-dimensional (3D) technology is a feasible and accurate adjunct to organ allocation and living donor selection process.

Utility of Enteral Contrast Protocols in Pediatric Adhesive Small Bowel Obstruction: A Prospective Multicenter Observational Study.

Objective: Our objective was to determine the utility of enteral contrast-based protocols in the diagnosis and management of adhesive small bowel obstruction (ASBO) for children.

Background: Enteral contrast-based protocols for adults with ASBO are associated with decreased need for surgery and shorter hospitalization. Pediatric-specific data are limited.

Ruptured Sinus of Valsalva Aneurysm with Resultant Myocardial Pouch Formation in the Fetal Heart-A Diagnostic Challenge.

Sinus of Valsalva aneurysms (SVAs) are infrequently seen in the pediatric population. When these aneurysms rupture, a significant hemodynamic burden is placed on the heart and increases the likelihood of cardiac failure. Here, we report a case of a ruptured SVA into the ventricular myocardium in a fetus with a form of double-inlet left ventricle.

Association between inpatient team continuity and clerkship student academic performance.

Objective: To determine the association between inpatient team continuity, defined as the maximum number of days the same student, resident, and attending worked together on the inpatient wards, and the academic performance of students in a pediatric block clerkship.

Methods: We retrospectively identified students who rotated in the pediatric clerkship at a single institution from 2020 to 2022. We used multiple linear regression models to adjust for multiple confounders and used a one-way analysis of variance to compare adjusted outcomes across quartiles of inpatient team continuity.

Progress in leukodystrophies with zebrafish.

Inherited leukodystrophies are genetic disorders characterized by abnormal white matter in the central nervous system. Although individually rare, there are more than 400 distinct types of leukodystrophies with a cumulative incidence of 1 in 4500 live births. The pathophysiology of most leukodystrophies is poorly understood, there are treatments for only a few, and there is significant morbidity and mortality, suggesting a critical need for improvements in this field.

A Novel Risk Score to Guide the Evaluation of Acute Hematogenous Osteomyelitis in Children.

Objectives: To identify independent predictors of and derive a risk score for acute hematogenous osteomyelitis (AHO) in children.

Methods: We conducted a retrospective matched case-control study of children >90 days to <18 years of age undergoing evaluation for a suspected musculoskeletal (MSK) infection from 2017 to 2019 at 23 pediatric emergency departments (EDs) affiliated with the Pediatric Emergency Medicine Collaborative Research Committee. Cases were identified by diagnosis codes and confirmed by chart review to meet accepted diagnostic criteria for AHO.

Novel Variants and Cases of Acute Reversible Leukoencephalopathy and α-Ketoglutarate Accumulation and Literature Review.

Objectives: Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (ARLIAK) is a recently described autosomal recessive leukoencephalopathy caused by pathogenic variants in the gene. ARLIAK is characterized by acute neurologic involvement, often precipitated by febrile illness, with largely reversible clinical symptoms and imaging findings. Three patients have been reported in the literature to date.

Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers.

Background: Patients with partial DiGeorge syndrome (pDGS) can present with immune dysregulation, the most common being autoimmune cytopenia (AIC). There is a lack of consensus on the approach to type, combination, and timing of therapies for AIC in pDGS. Recognition of immune dysregulation early in pDGS clinical course may help individualize treatment and prevent adverse outcomes from chronic immune dysregulation.

Learning From a National Quality Improvement Collaborative for Brief Resolved Unexplained Events.

Objective: In 2016, the American Academy of Pediatrics published the Brief Resolved Unexplained Event (BRUE) Clinical Practice Guideline (CPG). A multicenter quality improvement (QI) collaborative aimed to improve CPG adherence.

Methods: A QI collaborative of 15 hospitals aimed to improve testing adherence, the hospitalization of lower-risk infants, the correct use of diagnostic criteria, and risk classification.

HerediGene Population Study IT infrastructure: A model to support genomic research recruitment and precision public health.

The HerediGene Population Study is a large research study focused on identifying new genetic biomarkers for disease prevention, diagnosis, prognosis, and development of new therapeutics. A substantial IT infrastructure evolved to reach enrollment targets and return results to participants. More than 170,000 participants have been enrolled in the study to date, with 5.

Multicenter Study of Survival Benefit of Cardiac Resynchronization Therapy in Pediatric and Congenital Heart Disease.

Background: Evidence for the efficacy of cardiac resynchronization therapy (CRT) in pediatric and congenital heart disease (CHD) has been limited to surrogate outcomes.

Objectives: This study aimed to assess the impact of CRT upon the risk of transplantation or death in a retrospective, high-risk, controlled cohort at 5 quaternary referral centers.

Methods: Both CRT patients and control patients were <21 years of age or had CHD; had systemic ventricular ejection fraction <45%; symptomatic heart failure; and significant electrical dyssynchrony (QRS duration z score >3 or single-site ventricular pacing >40%) at enrollment.

Nutritional deficiencies in children.

Purpose Of Review: The purpose of this review is to summarize commonly encountered nutritional deficiencies in children and their implications. Considering data suggesting that the majority of children with the United States consume unhealthy diets, the growing interest in the consumption of limiting diets, as well as the insidious clinical presentation of nutritional deficiencies, this is a timely and highly relevant review.

Recent Findings: The underlying socioeconomic and medical circumstances that predispose to nutritional deficiencies in the Western world are covered.

Protein biomarkers GDF15 and FGF21 to differentiate mitochondrial hepatopathies from other pediatric liver diseases.

Background: Mitochondrial hepatopathies (MHs) are primary mitochondrial genetic disorders that can present as childhood liver disease. No recognized biomarkers discriminate MH from other childhood liver diseases. The protein biomarkers growth differentiation factor 15 (GDF15) and fibroblast growth factor 21 (FGF21) differentiate mitochondrial myopathies from other myopathies.

Incidence of Pediatric Urinary Tract Infections Before and During the COVID-19 Pandemic.

Importance: Urinary tract infection (UTI) is common in children, but the population incidence is largely unknown. Controversy surrounds the optimal diagnostic criteria and how to balance the risks of undertreatment and overtreatment. Changes in health care use during the COVID-19 pandemic created a natural experiment to examine health care use and UTI diagnosis and outcomes.

Cardiac Biomarkers Aid in Differentiation of Kawasaki Disease from Multisystem Inflammatory Syndrome in Children Associated with COVID-19.

Kawasaki disease (KD) and Multisystem Inflammatory Syndrome in Children (MIS-C) associated with COVID-19 show clinical overlap and both lack definitive diagnostic testing, making differentiation challenging. We sought to determine how cardiac biomarkers might differentiate KD from MIS-C. The International Kawasaki Disease Registry enrolled contemporaneous KD and MIS-C pediatric patients from 42 sites from January 2020 through June 2022.

Rapid Access Scheduler: A Web-Based System for Direct Provider Scheduling to Pediatric Neurology.

Purpose Of Review: Access to pediatric neurology care is limited, and outpatient waits can exceed 6 months. The referral process is often complex and burdensome. Our objective was to trial a program for scheduling access to pediatric neurology, to be controlled and accessed directly by outside providers.

Event-free survival of maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA.

Background And Aims: Alagille syndrome (ALGS) is characterized by chronic cholestasis with associated pruritus and extrahepatic anomalies. Maralixibat, an ileal bile acid transporter inhibitor, is an approved pharmacologic therapy for cholestatic pruritus in ALGS. Since long-term placebo-controlled studies are not feasible or ethical in children with rare diseases, a novel approach was taken comparing 6-year outcomes from maralixibat trials with an aligned and harmonized natural history cohort from the G lobal AL agille A lliance (GALA) study.