How the Diabetes Research Hub Will Modernize and Enhances Diabetes Data Utilization.

The Diabetes Research Hub (DRH) is a centralized data management system and repository that will revolutionize how diabetes data are gathered, stored, analyzed, and utilized for research. By harnessing advanced analytics for large datasets, the DRH will support a nuanced understanding of physiological patterns and treatment effectiveness, ultimately advancing diabetes management and patient outcomes. This is an opportune time for researchers who are collecting continuous glucose data and related physiological data sources, to leverage the capabilities of the DRH to enhance the value of their data.

Hemodynamic evaluation of the pulmonary arteries and aorta using 4D flow cardiac MRI in children and young adults with dextro-transposition of the great arteries after the arterial switch operation.

Background: Pulmonary artery stenosis, neoaortic dilatation, and neoaortic valve insufficiency are among the most frequent complications of the arterial switch operation for repair of dextro-transposition of the great arteries (d-TGA). It remains difficult to predict which patients will require great arterial reintervention.

Objective: We aimed to characterize hemodynamics within the great arteries using 4D flow MRI in patients with d-TGA after the arterial switch operation.

Module Creation Within the TOPS Registry: An Opportunity for Longitudinal Collection of Procedure-specific Clinical Outcomes.

The Tracking Operations and Outcomes for Plastic Surgeons (TOPS) data registry, first launched in 2002 by the American Society of Plastic Surgeons (ASPS) in collaboration with the Plastic Surgery Foundation (PSF), was designed to avoid the perceived shortcomings of other national data registries as they pertain to interests of the plastic surgery community. Given the diversity of plastic surgery practice, the ASPS and PSF sought to ensure that the TOPS registry platform would support detailed collection of data useful to plastic surgeons practicing in all subspecialties. Therefore, a key design element of the TOPS registry is its ability to incorporate custom-made modules that allow for focused collection of topic/procedure-specific information.

Prenatal Spina Bifida Repair: A Survey of Current Practice in the United States.

Background: Prenatal myelomeningocele (MMC) repair offers significant benefits over traditional postnatal repair, as demonstrated by the Management of Myelomeningocele Study trial. We characterize the current specialist involvement in prenatal and postnatal MMC repair.

Methods: The top 50 US News Children's Hospitals for Neonatology and Neurology/Neurosurgery were queried, resulting in 67 unique hospitals.

Rhabdoid Tumor of the Kidney and Soft Tissues: Results from National Wilms Tumor Study-5 and Children's Oncology Group Study AREN0321.

Purpose: National Wilms Tumor Study-5 (NWTS-5) and AREN0321 evaluated the outcomes of children with rhabdoid tumor of the kidney (RTK) and malignant rhabdoid tumor of soft tissues (MRT).

Patients And Methods: Eligible patients with RTK were enrolled prospectively on NWTS-5 (1995-2002) and treated with carboplatin and etoposide alternating with cyclophosphamide (Regimen RTK). Patients with RTK or MRT were enrolled on AREN0321 (2005-2012) and received vincristine, doxorubicin, and cyclophosphamide alternating with carboplatin, cyclophosphamide, and etoposide (Regimens UH-1 or dose-reduced Revised UH-1).

Initiating and Sustaining GSAs Across the District as Part of a Vision for Equity: A Case Study in Chicago Public Schools.

Background: Increasingly, there are calls for educational equity to explicitly include LGBTQ+ students, including the creation of lesbian, gay, bisexual, transgender, or queer/questioning (LGBTQ+) clubs, or Genders and Sexualities Alliances (GSAs), which are associated with positive outcomes for LGBTQ+ students and promote a safer school climate for all students. However, less is known about strategies to initiate and sustain GSAs. Chicago Public Schools (CPS) serves as a case study of how to embrace LGBTQ+ equity through an evaluation of its current practices to support GSAs.

The Psychosocial Burden of Pediatric Food Allergy in the United States: A Population-Based Survey.

Background: Food allergy (FA) affects approximately one in 12 US children, with prevalence increasing. Aside from considerable health care utilization, accumulating research suggests heightened psychosocial burden among this population.

Objective: To characterize FA-related psychosocial burden among a large, nationally representative pediatric sample, and its correlates, including sociodemographic characteristics, comorbid conditions, allergy severity, allergic symptoms, number and type of allergens, and healthcare utilization.

Predicting Auditory Skill Outcomes After Pediatric Cochlear Implantation Using Preoperative Brain Imaging.

Purpose: Our study used preoperative neuroanatomical features to predict auditory development in Chinese-learning children with cochlear implants (CIs).

Method: T1-weighted whole-brain magnetic resonance imaging (MRI) scans were obtained from 17 Chinese-learning pediatric CI candidates (12 females and five males, age at MRI = 23.0 ± 15.

Updates on neurologic manifestations of mitochondrial disease.

Purpose Of Review: Primary mitochondrial disease (PMD) is diverse both genetically and phenotypically. Neurologic manifestations are present at a high rate and often pose complications for providers. The review will discuss common manifestations and how advances in genetic testing have broadened understanding of PMDs.

Three limited interaction approaches to understanding the epidemiology of HIV among YMSM in the US.

Background: Using a theoretically-grounded approach to the epidemiological study of HIV incidence among a national, diverse sample of sexual and gender minority (SGM) men (age 17 -29 years), as well as examining HIV incidence through an innovative geospatial lens, is of considerable public health significance. Our overarching objectives are to assemble a U.S.

Novel pathogenic variant in a mild case of type B molybdenum cofactor deficiency: case report and literature review.

Background: Molybdenum cofactor deficiency (MoCD) is a rare metabolic disorder caused by pathogenic variants in the highly conserved biosynthetic pathway of molybdenum cofactor (MoCo), resulting in sulfite intoxication. MoCD may present in a clinically severe, fatal form marked by intractable seizures after birth, hyperekplexia, microcephaly and cerebral atrophy, or a later onset form with a more varied clinical course. Three types of MoCD have been described based on the effected gene along the MoCo synthesis pathway: type A (MOCS1); type B (MOCS2 or MOCS3) and type C (GPHN).

Protocol: the American Women: Assessing Risk Epidemiologically (AWARE) cohort study.

Background: While progress has been made in reducing HIV incidence rates among cisgender women, it continues to fall short of reaching the goal of ending the HIV epidemic with no new cases.

Objective: This study aims to use innovative electronic methods (e.g.

Older Children Undergoing Inguinal Hernia Repair Have Higher Recurrence Rates Than Younger Children and Adults: A Nationwide Cohort Study.

Background: High ligation is the standard practice for inguinal hernia repair in children while adults undergo a floor repair. There is limited data to guide recommendations on the age at which floor repair should be considered. This is a hypothesis-generating study to understand the correlation of age and other factors with inguinal hernia recurrence in children.

Pediatric Emergency Care Coordinator Presence and Pediatric Care Quality Measures.

Importance: Higher pediatric readiness has been associated with improved quality and outcomes of care for children. Pediatric emergency care coordinators (PECCs) are a component of pediatric readiness, but the specific association between PECCs and quality-of-care measures is undefined.

Objective: To examine the association between PECC presence and emergency department (ED) performance as reflected by quality-of-care measures.

Supporting Children's Mental Health Needs in Disasters.

Public health emergencies, including climate-related and manmade disasters such as active shooter incidents, occur regularly in the United States. A comprehensive approach is needed to ensure that children's mental health needs are adequately addressed following disasters. This article summarizes the latest evidence on how health systems can effectively address children's unique developmental, social, emotional, and behavioral needs in the context of disasters.

Machine Learning-Based Prediction Model for ICU Mortality After Continuous Renal Replacement Therapy Initiation in Children.

Background: Continuous renal replacement therapy (CRRT) is the favored renal replacement therapy in critically ill patients. Predicting clinical outcomes for CRRT patients is difficult due to population heterogeneity, varying clinical practices, and limited sample sizes.

Objective: We aimed to predict survival to ICUs and hospital discharge in children and young adults receiving CRRT using machine learning (ML) techniques.

Effect of Hemolysis on Routine Blood Gas and Whole Blood Analytes.

Background: Hemolysis is a major pre-analytical concern for many laboratory analytes; however, instruments utilized for whole blood chemistries and blood gas measurements lack the ability to detect and measure the degree of hemolysis. This study evaluated the effect of hemolysis on 13 routine whole blood and blood gas analytes and compared visual assessments of hemolysis to measured hemolysis (H-index).

Methods: Remnant whole blood samples (n = 85) were split into 2 portions and aspirated through a syringe one or more times.

Evaluating Reproductive Carrier Screening using Biotinidase Deficiency as a Model: Variants Identified, Variant Rates and Management.

Purpose: To review biotinidase gene (BTD) variants identified in a large, diverse, reproductive carrier screening (RCS) cohort and outline management of heterozygotes with pathogenic or likely pathogenic (P/LP) variants.

Methods: This retrospective observational study included samples tested from January 2020 to September 2022 in a 274-gene panel. The study involved females aged 18 to 55 years.

Feasibility of clinical newborn metabolic screening in a high-volume maternity center in Nepal.

Background: Strategic action plans around newborn health evaluation are needed, to address the high neonatal mortality rate in Nepal. Surveillance systems, like Newborn Metabolic Screening (NBS), could reveal unrecognized drivers of neonatal death. NBS is not routinely performed in Nepal.

Meta-analyses uncover the genetic architecture of Idiopathic Inflammatory Myopathies.

Objective: Idiopathic inflammatory myopathies (myositis, IIMs) are rare, systemic autoimmune disorders that lead to muscle inflammation, weakness, and extra-muscular manifestations, with a strong genetic component influencing disease development and progression. Previous genome-wide association studies identified loci associated with IIMs. In this study, we imputed data from two prior genome-wide myositis studies and analyzed the largest myositis dataset to date to identify novel risk loci and susceptibility genes associated with IIMs and its clinical subtypes.

Parental Perceptions of Early Childhood In-Home Research with Monitoring: A Qualitative Study.

Objective: To explore perceptions, concerns, and enthusiasm from a diverse group of parents regarding early childhood research that involves home monitoring technologies for collecting environmental exposure data.

Study Design: A diverse group of new and expecting parents participated in semi-structured interviews. A single interviewer conducted all sessions and introduced a hypothetical longitudinal early childhood research study, which included novel home monitoring approaches: 1) wearable devices, 2) audio monitoring, and 3) environmental sampling.

Ophthalmological manifestations in a diverse pediatric population with Type I and Type II Stickler syndrome.

Objective: To characterize and compare our cohorts of pediatric patients with type I and type II Sticker syndrome, with a focus on ophthalmological features.

Design: Retrospective cohort study.

Subjects: Twenty-six patients (22 families) with clinical and genetic diagnoses of types I or II Stickler syndrome.

The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND.

Purpose: Missense de novo variants in CACNA1G, which encodes the Cav3.1 T-type calcium channel, have been associated with a severe, early-onset form of cerebellar disorder with neurodevelopmental deficits (SCA42ND). We explored a large series of pediatric cases carrying heterozygous variants in CACNA1G to further characterize genotype-phenotype correlations in SCA42ND.