CAGI6 ID panel challenge: assessment of phenotype and variant predictions in 415 children with neurodevelopmental disorders (NDDs).

The Genetics of Neurodevelopmental Disorders Lab in Padua provided a new intellectual disability (ID) Panel challenge for computational methods to predict patient phenotypes and their causal variants in the context of the Critical Assessment of the Genome Interpretation, 6th edition (CAGI6). Eight research teams submitted a total of 30 models to predict phenotypes based on the sequences of 74 genes (VCF format) in 415 pediatric patients affected by Neurodevelopmental Disorders (NDDs). NDDs are clinically and genetically heterogeneous conditions, with onset in infant age.

Using minimally invasive tissue sampling (MITS) and Determination of Cause of Death (DeCoDe) to establish etiologies of community respiratory deaths among Zambian infants and children.

In low-to-middle income countries, acute lower respiratory infection (ALRI) remains the leading infectious cause of death among infants and children under 5 years old. Case-control studies based on upper respiratory sampling have informed current understandings of ALRI etiologies; in contrast, minimally-invasive tissue sampling (MITS) offers a method of directly interrogating lower respiratory tract pathogens to establish etiologic distributions. This study performed in the post-mortem setting used MITS and a Determination of Cause of Death (DeCoDe) panel to elucidate causes of fatal pneumonia in the community in Lusaka, Zambia.

Significant reduction in blood product usage, same early outcomes: Blood conservation in infants undergoing open heart surgery.

Objective: To evaluate the effect of a blood conservation program on trends in use of donor blood products and early clinical outcomes in infants undergoing open heart surgery.

Methods: Four hundred nine patients younger than age 1 year undergoing open-heart surgery between October 1, 2020, and June 30, 2023, were reviewed. The study period was divided into 4 eras with the first era as a before blood conservation baseline using traditional blood management.

Prevention and Management of Infectious Complications in Pediatric Patients With Cancer: A Survey Assessment of Current Practices Across Children's Oncology Group Institutions.

Introduction: While clinical practice guidelines (CPGs) for pediatric oncology infection prophylaxis and management exist, few data describe actual management occurring at pediatric oncology centers.

Methods: An electronic survey querying infection management practices in nontransplant pediatric oncology patients was iteratively created by the Children's Oncology Group (COG) Cancer Control and Supportive Care Infectious Diseases Subcommittee and sent to leaders at all COG institutions, limiting each site to one response to represent their institution.

Results: The response rate was 57% (129/227 institutions).

Structural polymorphism and diversity of human segmental duplications.

Segmental duplications (SDs) contribute significantly to human disease, evolution and diversity but have been difficult to resolve at the sequence level. We present a population genetics survey of SDs by analyzing 170 human genome assemblies (from 85 samples representing 38 Africans and 47 non-Africans) in which the majority of autosomal SDs are fully resolved using long-read sequence assembly. Excluding the acrocentric short arms and sex chromosomes, we identify 173.

Exploration of Cytokines and Microbiome Among Males and Females with Diarrhea-Predominant Irritable Bowel Syndrome.

Background: Whether pathophysiological factors differ between males and females with irritable bowel syndrome-diarrhea (IBS-D) remains to be tested. To better understand potential sex differences, males with IBS-D were compared to naturally cycling females and to females with IBS-D taking hormonal contraception on plasma levels of cytokines and gut microbiome characteristics.

Methods: Males and females with Rome III IBS-D completed questionnaires and kept a daily symptom diary for 28 days.

Extracorporeal Cardiopulmonary Resuscitation Outcomes in Pre-Glenn Single Ventricle Infants: Analysis of A Ten-Year Dataset.

Background: While several studies have reported on outcomes of extracorporeal membrane oxygenation (ECMO) in patients with single ventricle physiology, few studies have described outcomes of extracorporeal cardiopulmonary resuscitation (ECPR) in this unique population. The objective of this study was to determine survival and risk factors for mortality after ECPR in single ventricle patients prior to superior cavopulmonary anastomosis, using a large sample from the Extracorporeal Life Support Organization (ELSO) Registry.

Methods: We included single ventricle patients who underwent ECPR for in-hospital cardiac arrest (IHCA) between January 2012 and December 2021.

Categorizing Hospitals by Neonatal and Pediatric Diagnoses Treated.

Background: Traditional classification of children's and nonchildren's hospitals is based on physical structure and branding. We grouped hospitals with the most similar types of pediatric patients.

Methods: Retrospective analysis of 2.

Melanoma Among Adult Survivors of Childhood Cancer: A Report From the Childhood Cancer Survivor Study.

Purpose: Melanoma as a subsequent malignant neoplasm has been described among childhood cancer survivors; however, the risk factors and long-term survival are not well understood.

Methods: We assessed incidence, risk factors, and outcomes for melanoma among participants in the Childhood Cancer Survivor Study cohort. Cumulative incidence and standardized incidence ratios (SIRs) were calculated, and multivariable Cox models were used to determine hazard ratios (HRs) and associated 95% CI for melanoma risk factors.

Transitioning to Opioid-free Anesthesia for Pediatric Supracondylar Fracture Repairs: A Patient Safety Report.

Introduction: Supracondylar fractures are among the most common injuries in the pediatric population. Recently, there has been increased interest in developing opioid-free anesthetic protocols that achieve these same goals without the risks associated with opioid use, such as postoperative nausea and vomiting (PONV), delayed discharges, and respiratory depression.

Methods: Seattle Children's Hospital implemented opioid-free anesthesia (OFA) for pediatric supracondylar fracture repairs in January 2021.

Perspectives on Conducting Behavioral Intervention With Adolescents Using a Virtual Platform-A Thematic Analysis From the Viewpoint of Study Coordinators.

Background: The COVID-19 pandemic led to widespread adoption of virtual communication platforms. Virtual study visits were implemented in the pilot cluster randomized trial (CRT) stage of Teen Adherence in KidnEy transplant Improving Tracking To Optimize Outcomes (TAKE-IT TOO). The present study aimed to understand study coordinators' perspectives on conducting a behavioral intervention with adolescent kidney transplant recipients using virtual conferencing platforms.

Pharmacokinetics and Pharmacodynamics of Intravenous Magnesium Sulfate in Pediatric Acute Asthma Exacerbations.

Pediatric asthma exacerbations represent a significant cause of emergency department use and hospitalizations. Despite available treatment options, many children's exacerbations are refractory to standard therapies and require adjunct treatments. The Intravenous Magnesium: Prompt use for Asthma in Children Treated in the Emergency Department study investigated the pharmacology of intravenous magnesium sulfate (IVMg) in treating pediatric asthma exacerbations.

Intracerebroventricular B7-H3-targeting CAR T cells for diffuse intrinsic pontine glioma: a phase 1 trial.

Diffuse intrinsic pontine glioma (DIPG) is a fatal central nervous system (CNS) tumor that confers a median survival of 11 months. As B7-H3 is expressed on pediatric CNS tumors, we conducted BrainChild-03, a single-center, dose-escalation phase 1 clinical trial of repetitive intracerebroventricular (ICV) dosing of B7-H3-targeting chimeric antigen receptor T cells (B7-H3 CAR T cells) for children with recurrent or refractory CNS tumors and DIPG. Here we report results from Arm C, restricted to patients with DIPG.

Enhanced D614G and Omicron Variants Antibody Persistence in Infants at 2 Months of Age Following Maternal mRNA Booster Vaccination During Pregnancy or Postpartum.

Background: Following maternal COVID-19 vaccination, the persistence of antibodies in sera and breast milk for mothers and infants is not well characterized. We sought to describe the persistence of antibodies through 2 months after delivery in maternal and infant serum and breast milk following maternal COVID-19 mRNA vaccination and to examine differences by receipt of booster dose during pregnancy or postpartum.

Methods: This is a prospective cohort study with enrollment from July 2021 to January 2022 at 9 US academic sites.

Educational interventions to improve pediatric emergency care: A qualitative assessment of the perspectives of African healthcare workers.

Pediatric emergency care (PEC) training for health care workers (HCWs) is commonly offered in the form of short courses. This study gathers the perspectives of HCWs from eight African countries on how to best deliver and implement short training courses in PEC. This is a qualitative study using semi-structured key informant (KI) interviews.

The Proteomics of T-Cell and Early T-Cell Precursor (ETP) Acute Lymphocytic Leukemia: Prognostic Patterns in Adult and Pediatric-ETP ALL.

Background: The 5-year overall survival (OS) rates of T-cell lymphocytic leukemia (T-ALL) are better for children (>90%) compared to adults (~57%). The early T-cell precursor (ETP) T-ALL subtype is prognostically unfavorable in adults, but less significant in pediatric T-ALL, and the diagnosis and prognosis of "near"-ETP is controversial. We compared protein and RNA expression patterns in pediatric and adult T-ALL to identify prognostic subgroups, and to further characterize ETP and near-ETP T-ALL in both age groups.

Phosphoribosyl pyrophosphate synthetase 1 () associated retinal degeneration: an international study.

Introduction: Phosphoribosyl pyrophosphate synthetase 1 () is an X-linked gene critical for nucleotide metabolism. Pathogenic variants cause three overlapping phenotypes: Arts syndrome (severe neurological disease), Charcot-Marie-Tooth type 5 [CMTX5] (peripheral neuropathy), and non-syndromic sensorineural hearing loss (SNHL). Each may be associated with retinal dystrophy.

Burdens of type 2 diabetes and cardiovascular disease attributable to sugar-sweetened beverages in 184 countries.

The consumption of sugar-sweetened beverages (SSBs) is associated with type 2 diabetes (T2D) and cardiovascular diseases (CVD). However, an updated and comprehensive assessment of the global burden attributable to SSBs remains scarce. Here we estimated SSB-attributable T2D and CVD burdens across 184 countries in 1990 and 2020 globally, regionally and nationally, incorporating data from the Global Dietary Database, jointly stratified by age, sex, educational attainment and urbanicity.

Propensity Score Analysis of Possible Medication Effects on Outcomes in Patients With Systemic Right Ventricles.

Background: Patients with systemic right ventricle (SRV), either d-transposition of the great arteries following an atrial switch procedure or congenitally corrected transposition of the great arteries, develop severe right ventricular dysfunction, prompting appropriate medical therapy. However, the efficacy of beta-blockers and angiotensin receptor blockers or angiotensin-converting enzyme inhibitors (ACEI) in SRV patients is unproven.

Objectives: The objective of this study was to determine the effects of ACEI/ARB and beta-blockers on outcomes in SRV patients after accounting for likely cofounders affecting their use.

Maternal-Infant Respiratory Syncytial Virus and Influenza A Virus Antibody Transfer in Preterm and Full-term Infants.

Background: Immunization against influenza and respiratory syncytial virus (RSV) protects pregnant individuals and their infants against infection via transplacental transport of immunoglobulin G (IgG). We sought to evaluate the quantity and efficiency of maternal influenza- and RSV-specific IgG transfer in pregnancies with preterm and full-term deliveries.

Methods: Delivery samples from 115 maternal-infant pairs (2018-2021) were analyzed for RSV prefusion F and IAV-H3 and IAV-H1 antibodies using electrochemiluminescence assays.