Measuring perceived utility of genomic sequencing: Development and validation of the GENEtic Utility (GENE-U) scale for pediatric diagnostic testing.

Purpose: Measuring the effects of genomic sequencing (GS) on patients and families is critical for translational research. We aimed to develop and validate an instrument to assess parents' perceived utility of pediatric diagnostic GS.

Methods: Informed by a 5-domain conceptual model, the study comprised 5 steps: (1) item writing, (2) cognitive testing, (3) pilot testing and item reduction, (4) psychometric testing, and (5) evaluation of construct validity.

Responsive neurostimulation of thalamic nuclei for regional and multifocal drug-resistant epilepsy in children and young adults.

Objective: Responsive neurostimulation (RNS) is a US FDA-approved form of neuromodulation to treat patients with focal-onset drug-resistant epilepsy (DRE) who are ineligible for or whose condition is refractory to resection. However, the FDA approval only extends to use in patients with one or two epileptogenic foci. Recent literature has shown possible efficacy of thalamic RNS in patients with Lennox-Gastaut syndrome and multifocal epilepsy.

Alzheimer's disease and low-dose radiation therapy: A new hope.

The concept of low-dose radiation (LDR)-induced hormetic responses was initially observed approximately 70 years ago and systematically reviewed along with the discovery of LDR-induced adaptive responses in a cytogenetic study in 1980s. By the end of the 1990s, discussions regarding the potential applications of LDR-induced hormesis and adaptive responses for preventing or treating chronic diseases, such as Alzheimer's disease (AD) had taken place. Until 2016, reports on radiotherapy for the subjects with AD and for genetic AD model mice were published.

A genetically informed longitudinal study of early-life temperament and childhood aggression.

The present study examined the longitudinal associations between three dimensions of temperament - activity, affect-extraversion, and task orientation - and childhood aggression. Using 131 monozygotic and 173 dizygotic (86 same-sex) twin pairs from the Louisville Twin Study, we elucidated the ages, from 6 to 36 months, at which each temperament dimension began to correlate with aggression at age 7. We employed latent growth modeling to show that developmental increases (i.

Photobiomodulation preconditioned diabetic adipose derived stem cells with additional photobiomodulation: an additive approach for enhanced wound healing in diabetic rats with a delayed healing wound.

In this preclinical investigation, we examined the effects of combining preconditioned diabetic adipose-derived mesenchymal stem cells (AD-MSCs) and photobiomodulation (PBM) on a model of infected ischemic delayed healing wound (injury), (IIDHWM) in rats with type I diabetes (TIDM). During the stages of wound healing, we examined multiple elements such as stereology, macrophage polarization, and the mRNA expression levels of stromal cell-derived factor (SDF)-1α, vascular endothelial growth factor (VEGF), hypoxia-induced factor 1α (HIF-1α), and basic fibroblast growth factor (bFGF) to evaluate proliferation and inflammation. The rats were grouped into: (1) control group; (2) diabetic-stem cells were transversed into the injury site; (3) diabetic-stem cells were transversed into the injury site then the injury site exposed to PBM; (4) diabetic stem cells were preconditioned with PBM and implanted into the wound; (5) diabetic stem cells were preconditioned with PBM and transferred into the injury site, then the injury site exposed additional PBM.

Ethical and Legal Issues Surrounding Genetic Testing in the NICU.

Clinicians practicing in a modern NICU are noticing an increase in the proportion of patients who undergo genetic testing as well as changes in the types of genetic testing patients receive. These trends are not surprising given the increasing recognition of the genetic causes of neonatal illness and recent advances in genetic technology. Yet, the expansion of genetic testing in the NICU also raises a number of ethical questions.

Effect of an Evaluation Algorithm on CT Utilization in Identifying Appendicitis in Children.

Objective: Our objective was to determine if there was a significant change in computed tomography (CT) utilization or length of stay (LOS) among patients evaluated for acute appendicitis after implementation of an appendicitis evaluation algorithm.

Methods: We conducted a retrospective chart review of patients aged 3-18 years in an urban, tertiary pediatric emergency department with acute abdominal pain, evaluated for appendicitis. Data were collected for 6 months preimplementation and postimplementation of the evaluation algorithm with a 3-month washout period between September 2018 and November 2019.

United States Physicians' Knowledge, Attitudes, and Practices Regarding Meningococcal Vaccination for Healthy Adolescents and Young Adults.

Purpose: The United States Advisory Committee on Immunization Practices (ACIP) recommends vaccination against meningococcal serogroups A, C, W, and Y (MenACWY) for all 11-12-year-olds, with a booster dose for 16-year-olds, and against meningococcal serogroup B (MenB) for 16-23-year-olds under shared clinical decision-making (SCDM). However, uptake of the MenB vaccine and the MenACWY booster dose is low. This study investigated United States physicians' knowledge, attitudes, and practices regarding recommending MenB and MenACWY vaccines to non-high-risk older adolescents and young adults.

Educational and Patient Care Impacts of In Situ Simulation in Healthcare: A Systematic Review.

This systematic review was performed to assess the effectiveness of in situ simulation education. We searched databases including MEDLINE and Embase for studies comparing in situ simulation with other educational approaches. Two reviewers screened articles and extracted information.

Moving to the Middle Ground: Redefining Genomic Utility to Expand Understanding of Familial Benefit.

Translational research has tended to ignore the question of whether receiving a genomic diagnosis provides utility in community care contexts outside of doctors' offices and hospitals. However, empirical research with parents has highlighted numerous ways that a genomic diagnosis might be of practical value in the care provided by teachers, physical or occupational therapists, speech-language pathologists, behavior analysts, and nonphysician mental health providers. In this essay, we propose a new conceptual model of genomic utility that offers the opportunity to better capture a broad range of potential implications of genomic technologies for families in various social and organizational systems.

Optimizing Facial Aesthetics: Sequential Application of Botulinum Toxin A and Dermal Fillers for Enhanced Results.

In recent years, the field of aesthetic medicine has witnessed significant advancements, offering patients a plethora of options to rejuvenate their appearance. Among the most popular techniques are the administration of botulinum toxin A (BoNT-A) and dermal fillers. This article delves into the rationale and benefits of preparing the face with BoNT-A to weaken depressor muscles before proceeding with dermal filler injections.

Factors Influencing Physical Medicine and Rehabilitation Trainee Research Engagement.

Research engagement during physical medicine and rehabilitation residency and fellowship training is essential for advancing evidence-based medicine and fostering the development of clinician-scientists. Current Accreditation Council for Graduate Medical Education guidelines regarding research requirements during physical medicine and rehabilitation training are ambiguous, and it is unknown whether physical medicine and rehabilitation trainees receive adequate support to pursue research at the level they desire. This anonymous survey study aimed to identify perceived barriers and facilitators to research engagement among US physical medicine and rehabilitation residents and fellows.

Doxapram for the prevention and treatment of apnea in preterm infants.

Background: Apnea of prematurity is a common problem in preterm infants that may have significant consequences on their development. Methylxanthines (aminophylline, theophylline, and caffeine) are effective in the treatment of apnea of prematurity. Doxapram is used as a respiratory stimulant in cases refractory to the methylxanthine treatment.

Emergency departments: An underutilized resource to address pediatric influenza vaccine coverage.

Background: Emergency department (ED) based influenza vaccine (IV) programs have been successful in adults; however, little is known about pediatric ED IV programs in terms of prevalence, feasibility, or successful implementation.

Aims: To describe the reach and effectiveness of IV practices in pediatric EDs, and identify IV facilitators and barriers.

Methods: We assessed, via cross-sectional survey of pediatric ED physicians, number of EDs offering IV to children, vaccines administered annually, and perceived facilitators/barriers to vaccination.

A case study on variations in network structure and cross-sector alignment in two local systems serving pregnant and parenting women in recovery.

Objective: To describe network structure and alignment across organizations in healthcare, public health, and social services sectors that serve pregnant and parenting women with substance use disorder (SUD) in an urban and a rural community.

Data Sources And Study Settings: Two community networks, one urban and one rural with each including a residential substance use treatment program, in Kentucky during 2021.

Study Design: Social network analysis measured system collaboration and cross-sector alignment between healthcare, public health, and social services organizations, applying the Framework for Aligning Sectors.

The Parent PrU: A measure to assess personal utility of pediatric genomic results.

Purpose: We aimed to adapt and validate an existing patient-reported outcome measure, the personal-utility (PrU) scale, for use in the pediatric genomic context.

Methods: We adapted the adult version of the PrU and obtained feedback from 6 parents whose child had undergone sequencing. The resulting measure, the Parent PrU, was administered to parents of children in 4 pediatric cohorts of the Clinical Sequencing Evidence-Generating Research consortium after they received their children's genomic results.

Emergency Departments: An Underutilized Resource for Expanding COVID-19 Vaccine Coverage in Children.

COVID-19 vaccine (CV) acceptance rates remain suboptimal in children. Emergency departments (EDs) represent a unique opportunity to improve vaccination rates, particularly in underserved children. Little is known about the presence or reach of CV programs in US EDs.

Establishing a Permanent Food Pantry in a Pediatric Emergency Department.

Childhood food insecurity is associated with adverse health outcomes. Food pantries housed within healthcare facilities have the potential to reduce childhood food insecurity. An interdisciplinary team established a permanent food pantry in the pediatric emergency department of a metropolitan children's hospital.

Altered splicing factor and alternative splicing events in a mouse model of diet- and polychlorinated biphenyl-induced liver disease.

Non-alcoholic fatty liver disease (NAFLD) is associated with human environmental exposure to polychlorinated biphenyls (PCBs). Alternative splicing (AS) is dysregulated in steatotic liver disease and is regulated by splicing factors (SFs) and N-6 methyladenosine (m6A) modification. Here integrated analysis of hepatic mRNA-sequencing data was used to identify differentially expressed SFs and differential AS events (ASEs) in the livers of high fat diet-fed C57BL/6 J male mice exposed to Aroclor1260, PCB126, Aroclor1260 + PCB126, or vehicle control.

Nonlinear Catch-Up Growth in Height, Weight, and Head Circumference from Birth to Adolescence: A Longitudinal Twin Study.

Owing to high rates of prenatal complications, twins are, on average, substantially smaller than population norms on physical measurements including height, weight, and head circumference at birth. By early childhood, twins are physically average. This study is the first to explore the process of catch-up growth by fitting asymptotic growth models to age-standardized height, weight, and head circumference measurements in a community sample of twins (n = 1281, 52.

Investigating the Acute Metabolic Effects of the N-Methyl Carbamate Insecticide, Methomyl, on Mouse Liver.

Many pesticides have been identified as endocrine and metabolism-disrupting chemicals with hepatotoxic effects. However, data are limited for insecticides in the n-methyl carbamate class, including methomyl. Here, we investigate the liver and systemic metabolic effects of methomyl in a mouse model.

Associations With Severe Desaturation Events Among Children Receiving Noninvasive Respiratory Support at Time of Intubation.

Background: Endotracheal intubation is a common procedure associated with adverse events, including severe desaturation. Many patients receive noninvasive respiratory support to reduce the need for intubation. There are minimal data about the association between noninvasive respiratory support and the risk of a severe desaturation event during intubation.

Evaluation of Donor Lungs for Transplantation: The Efficacy of Screening Bronchoscopy for Detecting Donor Aspiration and Its Relationship to the Resulting Allograft Function in Corresponding Recipients.

Background: Potential organ donors often have suffered anoxic and/or traumatic brain injury during which they may have experienced aspiration of gastric material (AGM). Evaluation of such donors typically includes a screening bronchoscopic examination during which determinations of aspiration are made. The efficacy of this visual screening and its relationship to post-transplant allograft function are unknown.