From Federal Policy to Bedside Care: A Canadian Perspective on Key Considerations for Nurse Executive Action for AI Adoption - A Commentary.

The integration of artificial intelligence (AI) into healthcare represents a paradigm shift with the potential to enhance patient care and streamline clinical operations. This commentary explores the Canadian perspective on key organizational considerations for nurse executives, emphasizing the critical role they play in fostering the establishment of AI governance structures and advancing the front-line adoption of AI in nursing practice. The discussion delves into five domains of consideration, analyzing recent developments and implications for nursing executives.

Proteomic Profiling Towards a Better Understanding of Genetic Based Muscular Diseases: The Current Picture and a Look to the Future.

Proteomics accelerates diagnosis and research of muscular diseases by enabling the robust analysis of proteins relevant for the manifestation of neuromuscular diseases in the following aspects: (i) evaluation of the effect of genetic variants on the corresponding protein, (ii) prediction of the underlying genetic defect based on the proteomic signature of muscle biopsies, (iii) analysis of pathophysiologies underlying different entities of muscular diseases, key for the definition of new intervention concepts, and (iv) patient stratification according to biochemical fingerprints as well as (v) monitoring the success of therapeutic interventions. This review presents-also through exemplary case studies-the various advantages of mass proteomics in the investigation of genetic muscle diseases, discusses technical limitations, and provides an outlook on possible future application concepts. Hence, proteomics is an excellent large-scale analytical tool for the diagnostic workup of (hereditary) muscle diseases and warrants systematic profiling of underlying pathophysiological processes.

DICER1: The Argonaute Endonuclease Family Member and Its Role in Pediatric and Youth Pathology.

In 2001, two enzyme-encoding genes were recognized in the fruit fly . The genetic material, labeled and , encodes ribonuclease-type enzymes with slightly diverse target substrates. The human orthologue is .

SLC25A38 is required for mitochondrial pyridoxal 5'-phosphate (PLP) accumulation.

Many essential proteins require pyridoxal 5'-phosphate, the active form of vitamin B6, as a cofactor for their activity. These include enzymes important for amino acid metabolism, one-carbon metabolism, polyamine synthesis, erythropoiesis, and neurotransmitter metabolism. A third of all mammalian pyridoxal 5'-phosphate-dependent enzymes are localized in the mitochondria; however, the molecular machinery involved in the regulation of mitochondrial pyridoxal 5'-phosphate levels in mammals remains unknown.

Polycyclic aromatic hydrocarbons from environmental tobacco smoke and wood stoves dominate in settled house dust from Northwestern Ontario First Nations communities.

Rates of respiratory tract infections for children living in remote First Nations communities in the Sioux Lookout Zone in Northwestern Ontario are elevated and associated with poor indoor environmental quality including high exposures to endotoxin and serious dampness and mould damage. The studies also revealed a high prevalence of cigarette smoking and most houses have wood stoves, of variable quality. Depending on structure, polycyclic aromatic hydrocarbons (PAH) are carcinogens, immunotoxins and/or inflammatory mediators that are byproducts of the incomplete combustion of organic materials.

Disco-Interacting Protein 2 Homolog B CGG Repeat Expansion in Siblings with Neurodevelopmental Disability and Progressive Movement Disorder.

Background: Trinucleotide repeat expansions are an emerging class of genetic variants associated with various movement disorders. Unbiased genome-wide analyses can reveal novel genotype-phenotype associations and provide a diagnosis for patients and families.

Objective: The aim was to identify the genetic cause of a severe progressive movement disorder phenotype in 2 affected brothers.

Children's palliative care perceptions and educational needs among healthcare professionals in humanitarian settings.

Objectives: Explore humanitarian healthcare professionals' (HCPs) perceptions about implementing children's palliative care and to identify their educational needs and challenges, including learning topics, training methods, and barriers to education.

Methods: Humanitarian HCPs were interviewed about perspectives on children's palliative care and preferences and needs for training. Interviews were transcribed, coded, and arranged into overarching themes.

Newborn screening for common genetic variants associated with permanent hearing loss: Implementation in Ontario and a review of the first 3 years.

Purpose: Universal newborn hearing screening (UNHS) programs using audiometric techniques alone are limited in ability to detect non-congenital childhood permanent hearing loss (PHL). In 2019, Ontario launched universal newborn screening (NBS) for PHL risk factors: congenital cytomegalovirus (cCMV) and 22 common variants in GJB2 and SLC26A4. Here we describe our experience with genetic risk factor screening.

Child maltreatment during the COVID-19 pandemic: implications for child and adolescent mental health.

As societies worldwide addressed the numerous challenges associated with the COVID-19 pandemic, a troubling concern emerged-the possible rise of child maltreatment, which is a pernicious risk factor for child and adolescent mental health difficulties. This narrative review aims to provide a comprehensive understanding of how the many changes and challenges associated with the pandemic influenced worldwide occurrences of child maltreatment and, subsequently, the mental health of children and adolescents. First, we present the well-established evidence regarding the impact of child maltreatment on the mental health of children and adolescents both before and during the COVID-19 pandemic.

Outcomes of a Population-Based Congenital Cytomegalovirus Screening Program.

Importance: Detection of congenital cytomegalovirus (cCMV) infection has previously relied on targeted screening programs or clinical recognition; however, these approaches miss most cCMV-infected newborns and fail to identify those infants who are asymptomatic at birth but at risk for late-onset sensorineural hearing loss.

Objective: To determine the feasibility of using routinely collected newborn dried blood spots (DBS) in a population-based cCMV screen to identify infants at risk for hearing loss and describe outcomes of infants screened.

Design, Setting, And Participants: This diagnostic study of a population-based screening program in Ontario, Canada, took place from July 29, 2019, to July 31, 2023.

Neutrophil-to-lymphocyte ratio at diagnosis predicts colonoscopic activity in pediatric inflammatory bowel diseases (pIBD).

Background: Neutrophil-to-lymphocyte ratio (NLR) is a novel biomarker studied in several autoimmune diseases including inflammatory bowel diseases (IBD) in adults, but poorly characterized in pediatric IBD (pIBD). We aimed to primarily investigate the relationship between NLR and pIBD endoscopic disease severity. We also examined whether NLR predicted hospitalization, surgery, and therapy response by 52 weeks.

Are adolescents who do physical activity with their parents more active and mentally healthier?

Background: Adolescents who engage in physical activity experience positive mental health outcomes. However, the increasing prevalence of physical inactivity combined with high screen time use among adolescents is a growing concern. Parents play an important role in shaping adolescents' physical activity and screen time levels through active participation and involvement.

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree and genomic rare-disease data (94.5% exomes, 5.

The Canadian Experience With Magnetic Esophageal Anastomosis: A Report From the Canadian Consortium for Research in Pediatric Surgery Study (CanCORPS).

Objective: Magnetic anastomosis is an innovative technique for establishing esophageal continuity in infants born with esophageal atresia. Few case series featuring this technology have been published, with even fewer reports on complications. We present the entire Canadian experience with this approach.

Bullying in adolescents across three years in the context of the COVID-19 pandemic: a repeated cross-sectional and prospective analysis.

Background: Bullying has been identified as a risk factor for many issues among adolescents. Although it was already considered a public health issue in Brazil before the COVID-19 pandemic, little is known about how the pandemic and associated public health measures have affected bullying behavior.

Objective: To explore changes in bullying victimization and perpetration among Brazilian high school students from 2019 to 2022.

Trochleoplasty Utilization in the Management of Patellofemoral Instability: Results From an International Survey of Surgeons.

Background: Considerable variability exists in the described clinical and radiographic indications for use, surgical techniques, postoperative management, and risk profile after trochleoplasty for the management of patellofemoral instability (PFI). In areas of clinical uncertainty, a cohesive summary of expert opinion and identification of areas of variation in current practice can be useful in guiding current practice and future research efforts.

Purpose: To assess the current indications for use, surgical techniques, postoperative rehabilitation practices, and observed complication profile for trochleoplasty in the management of PFI among surgeons who perform this procedure.

Exploring integrated tertiary care for children from Nunavut: experiences of families and healthcare providers at the Aakuluk clinic in Ottawa, Canada.

Children from circumpolar regions must travel long distances to southern tertiary care centres for specialised care. While there are initiatives underway to support care closer to home, medical travel remains a necessity for many families. The Aakuluk clinic has been operating since 2019 at a tertiary hospital in Ottawa, Canada, to provide care to children from Nunavut.

Global Matrix 4.0 on Physical Activity for Children and Adolescents: Project Evolution, Process Evaluation, and Future Recommendations.

Background: The Global Matrix initiative provides unique insights into child and adolescent physical activity (PA) worldwide, yet requires substantial human efforts and financial support.

Purpose: This study aimed to evaluate the process and outcomes of the latest edition of the initiative, the Global Matrix 4.0, reflect on its evolution from earlier editions, and provide recommendations for future Global Matrices.

Safety and Efficacy of IV Onasemnogene Abeparvovec for Pediatric Patients With Spinal Muscular Atrophy: The Phase 3b SMART Study.

Background And Objectives: Safety and efficacy of IV onasemnogene abeparvovec has been demonstrated for patients with spinal muscular atrophy (SMA) weighing <8.5 kg. SMART was the first clinical trial to evaluate onasemnogene abeparvovec for participants weighing 8.

Urban air pollution and child neurodevelopmental conditions: a systematic bibliometric review.

Purpose Of Review: Using advanced bibliometric analysis, we systematically mapped the most current literature on urban air pollution and neurodevelopmental conditions to identify key patterns and associations. Here, we review the findings from the broader literature by discussing a distilled, validated subset of 44 representative studies.

Recent Findings: Literature highlights a complex relationship between environmental toxins, neurodevelopmental disorders in children, and neurobehavioral pathways involving oxidative stress, neuroinflammation, and protein aggregation.

Impact of obesity on outcome in children diagnosed with cancer in Canada: A report from Cancer in Young People in Canada.

Background: Childhood obesity can result in adverse health outcomes. The objectives of this study were to describe the prevalence of obesity and determine the association between obesity at cancer diagnosis and event-free survival (EFS) and overall survival (OS) in children diagnosed with cancer in Canada.

Methods: The authors conducted a retrospective cohort study using the Cancer in Young People in Canada database, including all children with newly diagnosed cancer aged 2-18 years across Canada from 2001 to 2020.

Understanding the work-related challenges of organ and tissue donation coordinators during the COVID-19 pandemic: a mixed-method study.

Objectives: This study aimed to explore the perceptions of donation coordinators in Canada and understand how the COVID-19 pandemic impacted their work activities.

Design: A sequential mixed-method design incorporating a cross-sectional survey investigating demographic data, substance use and abuse and perceived stress related to the pandemic and semistructured qualitative interviews to further investigate those.

Setting: Organ donation organisations across Canada.