Family Genetic Risk Communication and Reverse Cascade Testing in the BabySeq Project.

Purpose: Genomic sequencing of newborns (NBSeq) can initiate disease surveillance and therapy for children, and may identify at-risk relatives through reverse cascade testing. We explored genetic risk communication and reverse cascade testing among families of newborns who underwent exome sequencing and had a risk for autosomal dominant disease identified.

Methods: We conducted semi-structured interviews with parents of newborns enrolled in the BabySeq Project who had a pathogenic or likely-pathogenic (P/LP) variant associated with an autosomal dominant (AD) childhood- and/or adult-onset disease returned.

Quantitative natural history modeling of HPDL-related disease based on cross-sectional data reveals genotype-phenotype correlations.

Objectives: Biallelic HPDL variants have been identified as the cause of a progressive childhood-onset movement disorder, with a broad clinical spectrum from severe neurodevelopmental disorder to juvenile-onset pure hereditary spastic paraplegia type 83. This study aims at delineating the geno- and phenotypic spectra of patients with HPDL-related disease, quantitatively modelling the natural history, and uncovering genotype-phenotype associations.

Methods: A cross-sectional analysis of 90 published and one novel case was performed, employing a Human Phenotype Ontology-based approach.

Assessment and ascertainment in psychiatric molecular genetics: challenges and opportunities for cross-disorder research.

Psychiatric disorders are highly comorbid, heritable, and genetically correlated [1-4]. The primary objective of cross-disorder psychiatric genetics research is to identify and characterize both the shared genetic factors that contribute to convergent disease etiologies and the unique genetic factors that distinguish between disorders [4, 5]. This information can illuminate the biological mechanisms underlying comorbid presentations of psychopathology, improve nosology and prediction of illness risk and trajectories, and aid the development of more effective and targeted interventions.

Aperiodic spectral slope tracks the effects of brain state on saliency responses in the human auditory cortex.

Alteration of responses to salient stimuli occurs in a wide range of brain disorders and may be rooted in pathophysiological brain state dynamics. Specifically, tonic and phasic modes of activity in the reticular activating system (RAS) influence, and are influenced by, salient stimuli, respectively. The RAS influences the spectral characteristics of activity in the neocortex, shifting the balance between low- and high-frequency fluctuations.

Emergency department utilization patterns for pediatric urinary stone patients in the United States.

Background: The prevalence of pediatric urolithiasis has increased rapidly, leading to more emergency department (ED) visits across the United States.

Objective: The purpose of this study was to determine emergency care practices for children and adolescents with urinary stones and characteristics associated with management.

Methods: We performed a cross-sectional study of the 2021 Nationwide Emergency Department Sample to identify pediatric patients (≤21 years) presenting to an ED in the United States with a primary diagnosis of urinary stone disease.

Optimizing Ewing Sarcoma and Osteosarcoma Biopsy Acquisition: A Children's Oncology Group Bone Tumor Committee Consensus Statement.

Trends in diagnostic biopsy sample collection approaches for primary bone sarcomas have shifted in the past 2 decades. Although open/incisional biopsies used to be the predominant approach to obtain diagnostic material for Ewing sarcoma and osteosarcoma, image-guided core needle biopsies have increased in frequency and are safe for patients. These procedures are less invasive and reduce recovery times but have potential limitations.

More Than Body Parts: A New Ethos of Anatomy Education.

A new ethos of anatomy education goes beyond the learning of body parts in the traditional curriculum. In the traditional curriculum, the focus of only providing information on the structure of the human body left certain learning opportunities overlooked, marginalized, or dismissed as irrelevant; thus, opportunities to foster and shape professional attributes in health care learners were lost. Furthermore, changes in curricula structures and reductions in anatomy teaching hours have necessitated a transformation in how anatomy education is perceived and delivered.

Adults With Head and Neck Burns Experience Worse Long-Term Outcomes and Require More Reconstructive Surgeries: A Burn Model System Study.

Background: Adults living with head and neck burn injuries experience psychosocial consequences due to scarring as well as functional disabilities. However, the impact of head and neck burns on long-term self-reported psychosocial outcomes, return to work, and need for reconstructive surgery has not been well described. This study investigates the unique longitudinal problems in psychosocial and functional recovery faced by adults with head and neck burn injuries.

Rapid Weight Gain After Pediatric Kidney Transplant and Development of Cardiometabolic Risk Factors Among Children Enrolled in the North American Pediatric Renal Trials and Collaborative Studies Cohort.

Introduction: Given the risks of cardiovascular disease among pediatric kidney transplant recipients, we evaluated whether there was an association between rapid weight gain (RWG) following kidney transplantation and the development of obesity and hypertension among children enrolled in the North American Pediatric Renal Trials and Collaborative Studies (NAPRTCS) registry.

Methods: This retrospective analysis of the NAPRTCS transplant cohort assessed for RWG in the first year post-transplant and evaluated for obesity and hypertension in children with and without RWG up to 5 years post-transplant. We evaluated three separate eras (1986-1999, 2000-2009, and 2010-2021).

Inherited metabolic epilepsies-established diseases, new approaches.

Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity. These characteristics make it particularly challenging to establish their targeted therapies, and many of the IMEs are treated nowadays only symptomatically and supportively.

Bereaved Parents' Perceptions of the Doll Reenactment After Sudden Unexpected Infant Deaths.

Background And Objectives: A death scene investigation is required to determine sudden infant death syndrome, and a doll reenactment optimizes the information obtained. The aim of this study was to explore how acutely bereaved parents experience doll reenactments that are conducted after the sudden and unexpected deaths of their infants.

Methods: A mixed-methods design, including surveys and semi-structured interviews, was used in a cross-sectional, national study to explore the experiences of doll reenactment among 45 bereaved parents.

Venous Endothelial Cell Transcriptomic Profiling Implicates METAP1 in Preeclampsia.

Background: Preeclampsia is a hypertensive disorder of pregnancy characterized by systemic endothelial dysfunction. The pathophysiology of preeclampsia remains incompletely understood. This study used human venous endothelial cell (EC) transcriptional profiling to investigate potential novel mechanisms underlying EC dysfunction in preeclampsia.

Treatment of symptomatic bipartite patella in patients <21 years of age: A systematic review and treatment algorithm.

Purpose: The purpose of this study is to develop an evidence-based algorithm for the management of symptomatic bipartite patella in the pediatric and adolescent population based on a systemic review of the published literature.

Methods: A systematic review of the literature was conducted using the Preferred Reporting Items for Systematic Reviews and Meta-analyses guidelines on PubMed and Embase, selecting for studies discussing the management of symptomatic bipartite patella.

Results: Five studies met criteria, involving 315 knees (314 patients, average age 15.

Parent-child relationship quality buffers the association between mothers' adverse childhood experiences and physiological synchrony.

Background: Family environment plays a critical role in shaping stress response systems. Concordance between mothers' and children's physiological states, specifically their Respiratory Sinus Arrhythmia (RSA), reflects dyadic co-regulation. Negative or weakened RSA synchrony during interactions is linked to various psychosocial risks, but existing research has focused on risks in the mother or child as opposed to the dyad.

Outcomes of Growth-Friendly Surgical Treatment of Early Onset Scoliosis in Children With Prune Belly Syndrome: A Preliminary Report.

Background: Prune belly syndrome (PBS) is a rare condition characterized by absence of abdominal musculature, cryptorchidism, and obstructive uropathy. The most common orthopaedic problem is scoliosis, yet no reports on growth-friendly surgical treatment of early-onset scoliosis (EOS) exist. Our purpose was to evaluate outcomes of distraction-based implants in children with PBS.

Impact of maternal antenatal nutrition and infection treatment interventions on Longitudinal Infant Development and Growth in rural Ethiopia: protocol of the LIDG child follow-up study.

Introduction: Maternal undernutrition and inflammation in utero may significantly impact the neurodevelopmental potential of offspring. However, few studies have investigated the effects of pregnancy interventions on long-term child growth and development. This study will examine the effects of prenatal nutrition and infection management interventions on long-term growth and neurodevelopmental outcomes of offspring.

Outpatient follow-up and future care-seeking for pediatric ambulatory care-sensitive conditions.

Objectives: Outpatient follow-up visits are often recommended for children with ambulatory care-sensitive conditions (ACSCs) who are discharged from emergency departments or urgent care centers (acute care settings). We sought to assess whether attending a follow-up visit within 7 days is associated with seeking initial office-based care rather than acute care during a subsequent ACSC illness. Understanding this association is crucial to guide recommendations for routine short-term follow-up visits in children who seek acute care for these common conditions.

Early-life microRNA signatures in cord blood associated with allergic rhinitis and asthma development.

Background: MicroRNAs (miRNAs) are involved in the biological regulation of asthma and allergies.

Objectives: To investigate the association between cord blood miRNAs and the development of allergic rhinitis and early childhood asthma.

Methods: miRNAs were sequenced from cord blood of subjects participating in the Vitamin D Antenatal Asthma Reduction Trial.

Pediatric Extracorporeal Membrane Oxygenation in Restrictive and Hypertrophic Cardiomyopathy: A Single Center Experience.

Patients with restrictive cardiomyopathy (RCM) and hypertrophic cardiomyopathy (HCM) were previously considered poor candidates for mechanical circulatory support due to technical limitations related to restrictive ventricular physiology and small ventricular size, limiting the ability to provide adequate flows and decompress the heart. Literature examining use of extracorporeal membrane oxygenation (ECMO) in this population consists of a single case series reporting no survivors. We report our experience providing ECMO in children with RCM or HCM at a large pediatric quaternary cardiac center.

Intestinal oxygen utilisation and cellular adaptation during intestinal ischaemia-reperfusion injury.

The gastrointestinal tract can be deranged by ailments including sepsis, trauma and haemorrhage. Ischaemic injury provokes a common constellation of microscopic and macroscopic changes that, together with the paradoxical exacerbation of cellular dysfunction and death following restoration of blood flow, are collectively known as ischaemia-reperfusion injury (IRI). Although much of the gastrointestinal tract is normally hypoxemic, intestinal IRI results when there is inadequate oxygen availability due to poor supply (pathological hypoxia) or abnormal tissue oxygen use and metabolism (dysoxia).

Molecular Testing for the World Health Organization Classification of Central Nervous System Tumors: A Review.

Importance: Molecular techniques, including next-generation sequencing, genomic copy number profiling, fusion transcript detection, and genomic DNA methylation arrays, are now indispensable tools for the workup of central nervous system (CNS) tumors. Yet there remains a great deal of heterogeneity in using such biomarker testing across institutions and hospital systems. This is in large part because there is a persistent reluctance among third-party payers to cover molecular testing.