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.

Skin Glue to Reduce Intravenous Catheter Failure in Children.

Study Objective: The peripheral intravenous catheter (IV) is the most common and painful invasive medical device in acute care settings. Our objective was to determine whether adding skin glue to secure IVs reduced catheter failure rate in children.

Methods: We conducted a randomized controlled trial in a tertiary-care pediatric emergency department (ED).

CAR/CSACI Practice Guidance for Contrast Media Hypersensitivity.

Contrast media, including iodinated contrast media and gadolinium-based contrast agents, are commonly administered pharmaceuticals with excellent safety profiles. However, a minority of the population may experience a hypersensitivity reaction following intravenous administration. Hypersensitivity reactions can be immediate or delayed, and range from mild, such as urticaria, to severe, including anaphylaxis.

Characterizing the medical and social complexity experienced by Inuit children and their families from Nunavut who access care at an urban Canadian tertiary level paediatric hospital.

We aimed to characterise the medical and social complexities experienced by Inuit children and their families from Nunavut who were cared for at a general paediatrics clinic at an urban tertiary-level hospital located in Eastern Ontario. A retrospective chart review of this cohort was completed between 2016 and 2019. Two independent reviewers extracted data from charts.

Health-Care Utilization of Children Born to Women with and Without Inflammatory Bowel Disease in the First Five Years of Life: A Population-Cohort Study.

Background: Children born to women with inflammatory bowel disease (IBD) may have increased healthcare utilization in early life due to genetic susceptibilities and exposure to inflammation in utero, though this has not been robustly evaluated. We aimed to characterize healthcare use between these groups.

Methods: We accessed province-wide health administrative databases to identify children born to women with and without IBD between 2002-2019.

Systematic Review: Efficacy of Medical Therapy on Outcomes Important to Pediatric Patients with X-Linked Hypophosphatemia.

Objective: To examine the evidence addressing the management of X-linked hypophosphatemia (XLH) in children to inform treatment recommendations.

Methods: We searched Embase, MEDLINE, Web of Science, and Cochrane Central up to May 2023. Eligible studies included RCTs and observational studies of individuals less than 18yrs with clinically or genetically confirmed XLH.

A National Survey of Caregiver Needs and Experiences When Attending the Emergency Department.

Objectives: Despite being a frequent entry point of care, it remains unknown if families' needs are being met across pediatric emergency departments (PEDs). Study objectives were to describe caregivers' perceived overall PED experience and needs and to what extent these needs were met.

Methods: This descriptive, cross-sectional survey with medical record review was conducted in 10 Canadian PEDs.

Hospital and physician-based mental healthcare during 12 months of opioid agonist treatment for opioid use disorder: Exploring costs and factors associated with acute care.

Background: Individuals with opioid use disorder (OUD) have a high prevalence of co-occurring mental health disorders; however, there exists little information on mental health service use for this population. We aimed to determine the prevalence of non-substance use-related mental health emergency department (ED) visits, hospitalizations, and outpatient physician visits for individuals receiving treatment for OUD over one year. We also explored individual-level characteristics associated with mental health care service use and estimated the costs of this care.

Neurocognitive Profile and Associated Factors Among Children Affected by Sickle Cell Disease in Kinshasa, Democratic Republic of Congo: A Cross-Sectional Study.

Background/objectives: Understanding the neurocognitive profile of children with sickle cell disease in the Democratic Republic of Congo is essential, as this condition can significantly affect their development. Our study aims to assess these children's neurocognitive and developmental profiles and identify related factors.

Methods: We conducted a descriptive cross-sectional study involving 287 children, aged 0 to 68 months, using the Mullen Scales of Early Learning and the Gensini Gavito Scale.

Expanding the Molecular Genetic Landscape of Dystrophinopathies and Associated Phenotypes.

: X-linked dystrophinopathies are a group of neuromuscular diseases caused by pathogenic variants in the gene (MIM *300377). Duchenne muscular dystrophy (DMD; MIM #310200) is the most common inherited muscular dystrophy. : We screened datasets of 403 male, genetically confirmed X-linked dystrophinopathy patients and identified 13 pathogenic variants of the gene that have not been described in the literature thus far.

Leveraging cancer mutation data to inform the pathogenicity classification of germline missense variants.

Innovative and easy-to-implement strategies are needed to improve the pathogenicity assessment of rare germline missense variants. Somatic cancer driver mutations identified through large-scale tumor sequencing studies often impact genes that are also associated with rare Mendelian disorders. The use of cancer mutation data to aid in the interpretation of germline missense variants, regardless of whether the gene is associated with a hereditary cancer predisposition syndrome or a non-cancer-related developmental disorder, has not been systematically assessed.

Treatment of discoid lupus erythematosus scarring alopecia with deucravacitinib: A case report.

Discoid lupus erythematosus is a chronic, recurring, autoimmune skin disease causing annular, scarring plaques on the head and neck. Deucravacitinib, a tyrosine kinase 2 inhibitor in the Janus kinase inhibitor family, represents an emerging treatment option in systemic lupus erythematosus with potential applicability to discoid lupus erythematosus. We describe a 48-year-old woman with multiple treatment-refractory scalp plaques and associated alopecia treated with deucravacitinib.

Higher physical activity levels are related to faecal microbiota diversity and composition in young adults.

Increasing physical activity (PA) is recognised as an efficacious approach for preventing and treating cardiometabolic diseases. Recently, the composition of microorganisms living within the gut has been proposed as an important appropriate target for treating these diseases. Whether PA is related to faecal microbiota diversity and composition in humans remains to be ascertained.

Parental and family presence are essential: A qualitative study of children's lived experiences with family presence in pediatric intensive care.

Objective: To better understand critically ill children's lived experiences with family presence in the pediatric intensive care unit (PICU).

Study Design: This qualitative, interpretive phenomenological study is grounded in a Childhood Ethics ontology. We recruited children (aged 6-17 years) admitted to one of four participating Canadian PICUs between November 2021-July 2022 using maximum variation sampling.

Phenotype Spectrum of TRPM3-Associated Disorders.

Objective: Monoallelic variants in the transient receptor potential melastatin-related type 3 gene (TRPM3) have been associated with neurodevelopmental manifestations, but knowledge on the clinical manifestations and treatment options is limited. We characterized the clinical spectrum, highlighting particularly the epilepsy phenotype, and the effect of treatments.

Methods: We analyzed retrospectively the phenotypes and genotypes of 43 individuals with TRPM3 variants, acquired from GeneMatcher and collaborations (n = 21), and through a systematic literature search (n = 22).

Sexual dimorphism in pathogenic variant-harbouring individuals.

Background: Individuals harbouring pathogenic variants are at risk for aneurysms/dissections throughout the arterial tree. Based on prior reports of sex differences in thoracic aortic aneurysm/dissection, we investigated the sexual dimorphism for vascular events in variant-harbouring patients.

Methods: We analysed two large pedigrees comprising 84 individuals segregating pathogenic missense variants affecting the same p.

Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel.

Background: In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) developed standardized variant curation guidelines for Mendelian disorders. Although these guidelines have been widely adopted, they are not gene- or disease-specific. To mitigate classification discrepancies, the Clinical Genome Resource FBN1 variant curation expert panel (VCEP) was established in 2018 to develop adaptations to the ACMG/AMP criteria for FBN1 in association with Marfan syndrome.

Heterozygous missense mutation of the fibrinogen gene associated with cryptogenic liver disease in a 15-months-old Canadian caucasian child.

Hepatic fibrinogen storage disease is an uncommon autosomal dominant hereditary illness marked by hypofibrinogenemia and the accumulation of variant fibrinogen in the hepatic endoplasmic reticulum. We present an asymptomatic 15-month-old male with elevated liver enzymes. Test results indicate hypofibrinogenemia.

Exome Sequencing in the Diagnostic Pathway for Suspected Rare Genetic Diseases: Does the Order of Testing Affect its Cost-Effectiveness?

Background: Patients with suspected rare diseases often experience lengthy and uncertain diagnostic pathways. This study aimed to estimate the cost-effectiveness of exome sequencing (ES) in different positions in the diagnostic pathway for patients suspected of having a rare genetic disease.

Methods: Data collected retrospectively from 305 patients suspected of having a rare genetic disease (RGD), who received clinical-grade ES and participated in the Canadian multicentre Care4Rare-SOLVE study, informed a discrete event simulation of the diagnostic pathway.