Low-Pass Whole Genome Sequencing of Cell-Free DNA from Cerebrospinal Fluid: A Focus on Pediatric Central Nervous System Tumors.

Background: Cell-free DNA (cfDNA) technology has allowed for cerebrospinal fluid (CSF), a previously underutilized biofluid, to be analyzed in new ways. The interrogation of CSF-derived cfDNA is giving rise to novel molecular insights, particularly in pediatric central nervous system (CNS) tumors, where invasive tumor tissue acquisition may be challenging. Contemporary disease monitoring is currently restricted to radiographic surveillance by magnetic resonance imaging and CSF cytology to directly detect abnormal cells and cell clusters.

How community connection, homophobia, and racism shape gene expression in sexual minority men with and without HIV.

Objective: Although sexual minority men experience substantial discrimination, in addition to increased risk for several serious mental and somatic health problems, the biological mechanisms underlying these effects are unclear. To address this issue, we examined how experiences of social safety (i.e.

Intermittent fasting as a treatment for obesity in young people: a scoping review.

Intermittent fasting focuses on the timing of eating rather than diet quality or energy intake, with evidence supporting its effects on weight loss and improvements in cardiometabolic outcomes in adults with obesity. However, there is limited evidence for its feasibility and efficacy in young people. To address this, a scoping review was conducted to examine intermittent fasting regimens in individuals aged 10 to 25 for the treatment of obesity focusing on methodology, intervention parameters, outcomes, adherence, feasibility, and efficacy.

Effects of flow lamination on aerosolized drug delivery through spatial barriers.

In this study we evaluated the effects of flow lamination on aerosol flow dynamics and deposition at the exit point in testing models with spatial barriers (narrowing or curving).We compared ModiFlow (MF) to an idealized Standard Spacer (SS) in their efficiency of delivery of aerosolized medication (fluticasone) across different types of spatial barriers. Fluticasone propionate HFA Inhaler from Prasco Labs 220 µg per actuation was used to deliver 1 spray in each test tube.

Iodine Deficiency Hypothyroidism Among Children in the United States - 21st Century Resurgence?

Background/objective: Iodine deficiency hypothyroidism is an important cause of neurocognitive and motor impairment in children globally. In the United States, universal salt iodization, which began in the 1920s, led to a dramatic decline in iodine deficiency hypothyroidism. However, iodine deficiency may be reemerging due to increased consumption of noniodized salts, decreased dairy iodine concentrations, and decreased intake of iodine containing foods due to food allergies, dietary preferences such as vegan diets, or restrictive food intake disorders.

Development of a Body of Knowledge for the Clinical Bioinformatician: Perspectives from the Association for Molecular Pathology's Clinical Genomics Bioinformatician Body of Knowledge Steering Committee.

The use of next-generation sequencing and other high-throughput technologies in the clinical molecular diagnostics laboratory requires the application of bioinformatics pipelines and other computational tools to analyze, visualize, and store these clinical data. Clinical bioinformaticians, individuals with the skills to develop, validate, and deploy these tools in a clinical setting, are needed to ensure that these molecular diagnostic technologies can be appropriately used for clinical care. Building on existing expertise in informatics, next-generation sequencing, and clinical molecular diagnostics, the Association for Molecular Pathology has generated a series to establish an initial clinical bioinformatician body of knowledge.

Impact of Race on the Outcomes of Retinoblastoma Treated With Primary Enucleation: A Global Study of 1426 Patients.

Background: To evaluate the clinical presentation, pathological features and outcomes of retinoblastoma based on the race of origin in a global cohort of patients.

Methods: Retrospective collaborative study of 1426 patients who underwent primary enucleation for retinoblastoma.

Results: Patients were grouped into Caucasians (n = 231, 16%), Asians (n = 841, 59%), Hispanics (n = 226, 16%), Arabs (n = 96, 7%) and Others (Africans, African Americans, Indigenous Australians; n = 32, 2%) cohorts.

Diagnostic abnormalities, disease severity and immunotherapy responsiveness in individuals with Down syndrome regression disorder.

Introduction: Down Syndrome Regression Disorder (DSRD) is a neuropsychiatric condition causing insomnia, catatonia, encephalopathy, and obsessive-compulsive behavior in otherwise healthy individuals with Down syndrome (DS). Smaller cohorts have identified heterogenous diagnostic abnormalities which have predicted immunotherapy responsiveness although pattern analysis in a large cohort has never been performed.

Methods: A multi-center, retrospective study of individuals with DSRD was performed.

Molecular Diversity of Embryonic-Type Neuroectodermal Tumors Arising From Testicular Germ Cell Tumors.

Embryonic-type neuroectodermal tumors (ENTs) arising from testicular germ cell tumors (GCTs) are a relatively common type of somatic transformation in GCTs with poor prognosis and limited therapeutic options, particularly when patients develop disease recurrence or metastasis. Knowledge of key events driving this transformation is limited to the paucity of comprehensive genomic data. We performed a retrospective database search in a Clinical Laboratory Improvement Amendments- and College of American Pathologists-certified laboratory for testicular GCT-derived ENTs that had previously undergone next-generation sequencing-based comprehensive genomic profiling during the course of clinical care.

FISPGHAN statement on the global public health impact of metabolic dysfunction-associated steatotic liver disease.

As rates of obesity rise worldwide, incidence of metabolic dysfunction-associated steatotic liver disease (MASLD), formerly referred to as nonalcoholic fatty liver disease, is increasing, worsening the burden of healthcare systems. The council of the Federation of International Societies for Pediatric Gastroenterology, Hepatology, and Nutrition (FISPGHAN) identified the topic of MASLD epidemiology, treatment, and prevention as a global priority issue to be addressed by an expert team, with the goal to describe feasible and evidence-based actions that may contribute to reducing MASLD risk. The FISPGHAN member societies nominated experts in the field.

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.

Over 100 Fontan Patients on Systemic Ventricular Assist Device Support: An ACTION Update.

As the Fontan population grows, understanding successful strategies for ventricular assist device (VAD) support of the failing Fontan circulation is needed. We performed a retrospective analysis of patients with Fontan circulation and systemic VAD support in the Advanced Cardiac Therapies Improving Outcomes Network (ACTION) registry. Competing outcomes and Kaplan-Meier estimated survival methods were used.

Type, content, and triggers for self-injurious thoughts and behaviors in autistic youth and their disclosure to caregivers.

Self-injurious thoughts and behaviors are high among autistic youth, yet research most often relies on caregiver reports and does not include youth perspectives. Relatedly, specific characteristics of self-injurious thoughts and behaviors (e.g.

Pointe Assessment Screen Shah Edison (PASSE) for Pointe Readiness: A Pilot Study.

As demanding as dancing en pointe is, no universal standard exists to determine when a ballet dancer is ready to advance to this next level. The goal of this study was to provide preliminarily tested and reliable guidelines for a screening tool that can be used to determine (1) if a dancer is ready for pointe, (2) reasons why a dancer may not be ready, and (3) areas for improvement to guide training and preparation. Seventeen dancers aged 9 to 17 years with a minimum 4 years of ballet and who were either possibly ready for pointe or had been in pointe class less than 3 months participated in this study.

Pediatric glossopharyngeal neuralgia with incidental trigeminal compression treated using microvascular decompression: illustrative case.

Background: Glossopharyngeal neuralgia (GPN) is a rare condition typically manifesting as paroxysms of sharp, lancinating pain localized to the middle ear and auditory canal, base of the tongue, tonsillar fossa, and region just inferior to the angle of the mandible. Vascular compression is a common etiology, and microvascular decompression (MVD) has been established as a safe and efficacious treatment in adults. With the exception of one report of an adult patient undergoing the procedure for symptomatology that began in adolescence, there are no published cases of MVD for GPN in pediatric patients to the author's knowledge.

Caveolin-1 regulates context-dependent signaling and survival in Ewing Sarcoma.

Cellular plasticity is a hallmark function of cancer, but many of the underlying mechanisms are not well understood. In this study, we identify Caveolin-1, a scaffolding protein that organizes plasma membrane domains, as a context-dependent regulator of survival signaling in Ewing sarcoma (EwS). Single cell analyses reveal a distinct subpopulation of EwS cells, which highly express the surface marker CD99 as well as Caveolin-1.

Health care transition recommendations for young people with intellectual and developmental disabilities and co-occurring mental health conditions: Stakeholder survey findings.

Background: Limited knowledge exists as to the supports and services young people with IDD and co-occurring mental health conditions need to transition to adult-focused health care and adulthood.

Methods: The survey findings presented were part of a larger investigation that explored these service and supports needs obtained from 144 respondents. Data reported for this investigation were obtained from 144 respondents who answered the question, "What do you think would be most helpful to assist young people with IDD and mental health conditions with the transition from child to adult health care (not including mental health care)?"Qualitative analysis based upon the social-ecological model was undertaken.

Diagnostic Journey for Tuberous Sclerosis Complex-Interviews From a Clinical Trial.

Tuberous sclerosis complex (TSC) is a genetic condition characterized by both medical and neuropsychiatric diagnoses that emerge across the lifespan. As part of a clinical trial, caregivers of children with TSC were interviewed about their experiences navigating medical, school, and social services. Semistructured interviews (N = 20) with caregivers of children with TSC (27-60 months) were conducted upon exit from the study.

Insulin clearance at randomisation and in response to treatment in youth with type 2 diabetes: a secondary analysis of the TODAY randomised clinical trial.

Aims/hypothesis: Insulin resistance and compensatory hyperinsulinaemia are core features leading to beta cell failure in youth-onset type 2 diabetes. Insulin clearance (IC) is also a key regulator of insulin concentrations, but few data exist on IC in youth-onset type 2 diabetes. In a secondary analysis of our Treatment Options for Type 2 Diabetes in Adolescents and Youth (TODAY) randomised clinical trial, we investigated potential sex-, race-, ethnicity- and treatment-related differences in IC in youth-onset type 2 diabetes and aimed to identify metabolic phenotypes associated with IC at baseline and in response to metformin, metformin plus a lifestyle intervention, and metformin plus rosiglitazone.

Developmental trajectories in high-risk NICU graduates during the first year of life.

Objective: We examined whether early medical factors predicted variability in developmental level and trajectories in high-risk neonatal intensive care unit (NICU) graduates during the first year of life.

Method: Infants (n = 53) who met criteria for the High-Risk Infant Follow-up Program were enrolled. Simple linear models predicted 12-month developmental abilities and linear mixed models predicted 6- to 12-month trajectories based on length of NICU stay and birthweight.

Constrained Multivariate Functional Principal Components Analysis for Novel Outcomes in Eye-Tracking Experiments.

Individuals with autism spectrum disorder (ASD) tend to experience greater difficulties with social communication and sensory information processing. Of particular interest in ASD biomarker research is the study of visual attention, effectively quantified in eye tracking (ET) experiments. Eye tracking offers a powerful, safe, and feasible platform for gaining insights into attentional processes by measuring moment-by-moment gaze patterns in response to stimuli.

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).