Mitochondrial Complex V Deficiency Caused by a Homozygous Splice Variant in ATP5PO.

Most complex V subunits are nuclear encoded and so far, were not found in association with recognized Mendelian disorders. ATP5PO is a candidate gene for complex V mitochondrial disease. It encodes the oligomycin sensitivity-conferring protein (OSCP), an essential component of the "stalk" region that links the F1 and F0 domains of the ATP synthase complex.

Early preschool wheeze trajectories are predominantly non-allergic with distinct biologic and microbiome traits.

Background: Disentangling preschool wheezing heterogeneity in terms of clinical traits, temporal patterns, and collective healthcare burden is critical for precise and effective interventions.

Objective: We aimed to collectively define contributions and distinct characteristics of respiratory phenotypes based on longitudinal wheeze and atopic sensitization patterns in the first 5 years of life.

Methods: Group-based trajectory analysis was performed in the CHILD Cohort study to identify distinct wheeze and allergic sensitization trajectories.

Autonomic Plexuses of the Female Sexual Organs Travel Within Pubocervical and Rectovaginal [Endopelvic] Fascia: A Rationale for 'Nerve-Aware' Vaginal Prolapse Repair.

The connective tissue support of female pelvic viscera-endopelvic fascia-has been studied in fetal and immunohistochemical models to demonstrate its relationship with the autonomic nerves of the female pelvis. Due to a paucity of literature examining the gross anatomical relationships between endopelvic fascia and autonomic nerves in adult female pelvises, it remains unknown whether defects in endopelvic fascia predisposing pelvic organ prolapse and/or manipulation of endopelvic fascia during prolapse repair may be the cause of prolapse-related pelvic pain and sexual dysfunction. Through the dissection of formalin-fixed hemipelvises (n = 10) the present study aimed to map the loci of the visceral branches of the inferior hypogastric plexus and associate them with endopelvic fascia of the female pelvis.

Insights Into How Digital Health Interventions Shape Outcomes for Emerging Adults Living With Type 1 Diabetes: Qualitative Realist Process Evaluation.

Background: Emerging adults living with type 1 diabetes (T1D) need targeted support to equip them with the knowledge and motivation required for self-management, particularly as they transition from pediatric to adult care. While multicomponent digital health interventions have shown promise in addressing their multifaceted needs, traditional effectiveness studies provide little, if any, insights into which components work effectively, how they function, and for whom.

Objective: This study aims to explore the implementation of a multicomponent, text message-based digital intervention (Keeping in Touch; KiT) to provide early insights into which components may shape participants' transition experiences and how.

Metabolomics reveal distinct molecular pathways associated with future risk of Crohn's Disease.

Host - microbiome interactions are central to Crohn'sdisease (CD) pathogenesis; yet the early metabolic alterations that precededisease onset remain poorly defined. To explore preclinical metabolicsignatures of CD, we analyzed baseline serum metabolomic profiles in a nestedcase-control study within the Crohn's and Colitis Canada - Genetics, Environment, Microbiome (CCC-GEM) Project, a prospective cohort of 5,122 healthyfirst-degree relatives (FDRs) of CD patients. We included 78 individuals wholater developed CD and 311 matched FDRs who remained disease-free.

Analysis of TERT association with clinical outcome in meningiomas: a multi-institutional cohort study.

Background: TERT promoter mutation is a rare biomarker in meningiomas associated with aberrant TERT expression and reduced progression-free survival. Although high TERT expression is characteristic of tumours with TERT promoter mutations, it has also been observed in tumours with wildtype TERT promoters. This study aimed to investigate the prevalence and prognostic association of TERT expression in meningiomas.

Arterial Ischemic Stroke in Children: Navigating Diagnostic and Management Pathways.

Pediatric stroke is garnering increased attention due to its rising incidence and significant impact on affected children, families, and the health care system. Arterial ischemic stroke (AIS) is a major subtype of pediatric stroke and often results from arterial occlusion. Diagnosis and treatment of acute ischemic stroke in children pose unique challenges, primarily because of nonspecific symptoms, lack of pediatric-focused imaging protocols, distinct causes (compared with in adults), and the large number of stroke mimics.

Effect of maternal HIV status on the early neonatal microbiome.

Microbiome disruption is a proposed mechanism for the observed differences in child health outcomes by maternal HIV status, but the early neonatal microbiome of HIV-exposed (HE) newborns is not well studied. We used 16S ribosomal ribonucleic acid sequencing to analyze the microbiome composition of nasal, skin, and rectal samples collected ≤72 hours after birth from 57 hospitalized neonates in Botswana, 33% of whom were HE. Beta diversity differed by anatomic compartment (p=.

Genetic suppression features ABHD18 as a Barth syndrome therapeutic target.

Cardiolipin (CL) is the signature phospholipid of the inner mitochondrial membrane, where it stabilizes electron transport chain protein complexes. The final step in CL biosynthesis relates to its remodelling: the exchange of nascent acyl chains with longer, unsaturated chains. However, the enzyme responsible for cleaving nascent CL (nCL) has remained elusive.

Health Care Utilization and Costs in Ventilator-Dependent Children and Adults Receiving an eHealth Intervention During the COVID-19 Pandemic.

During the COVID-19 pandemic, we implemented the Long-term In-Home Ventilator Engagement (LIVE) intervention to provide virtual specialist care. Using a matched home mechanical ventilation control group, we compared publicly funded health-service utilization and costs for ventilator-dependent children and adults receiving the LIVE eHealth intervention. LIVE users were matched to controls on age, sex, ventilation type, years on ventilation, and reason for ventilation.

Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort Study.

Achieving and maintaining metabolic control is critical for children with phenylalanine hydroxylase (PAH) deficiency. This retrospective longitudinal cohort study investigated metabolic control and monitoring frequency of children with PAH deficiency (≤ 12 years) treated at one of 12 pediatric metabolic centres across Canada. We abstracted data from medical charts and analyzed outcomes by age and diagnostic classification, using mixed effects regression.

Systematic reviews of patient-reported outcome measures (PROMs): table templates for effective communication.

Purpose: Systematic reviews of outcome measurement instruments (OMIs) are an important tool to guide the selection of OMIs for research and clinical practice. However, presenting the large amount of complex data pertaining both to the quality of each study (i.e.

Disease-modifying therapies for spinal muscular atrophy: Family experience, ethical considerations, and the role of social determinants of health.

Objectives: Spinal muscular atrophy is a progressive neuromuscular condition associated with a complex chronic disease course. An in-depth understanding of the ethical issues and social determinants of health impacting the experiences of families and children living with this condition is critical to improving care delivery. We identified the ethical tensions faced by families caring for children with spinal muscular atrophy as well as the influence of social determinants of health in relation to their perception of novel disease-modifying therapies.

Significant Impact of Treatment Abandonment on Survival of Children With "Common and Curable" GICC Index Cancers in Sub-Saharan Africa-A Multicenter Prospective CANCaRe Africa Study.

Background: The World Health Organization Global Initiative for Childhood Cancer (GICC) targets a global survival rate of 60% for childhood cancer, focusing initially on six common, curable cancers. This study describes survival rates of five of these cancers in sub-Saharan Africa and assesses the impact of treatment abandonment (TxA).

Methods: This multicenter, prospective, observational cohort study included newly diagnosed children (<16 years) with Burkitt lymphoma (BL), acute lymphoblastic leukemia (ALL), Wilms tumor (WT), retinoblastoma (RB), or Hodgkin lymphoma (HL), enrolled between January and December 2022 from seven hospitals in Malawi, Ethiopia (n = 2), Ghana, Kenya, Uganda, and Cameroon.

A roadmap for navigating child health research data sharing across Canada and beyond - building on UCAN CAN-DU.

Background: Sharing health data within and across jurisdictions is important for research and improving healthcare quality; however, researchers, governments and funders must balance the benefits of data sharing with data privacy. Though frameworks exist to guide data sharing it can be difficult to translate these into practice. Therefore, our aim was to create a practical example of data sharing for researchers in pediatric rheumatology.

Fluid shear stress activates a targetable mechano-metastatic cascade to promote medulloblastoma metastasis.

Biofluid flow generates fluid shear stress (FSS), a mechanical force widely present in the tissue microenvironment. How brain tumour growth alters the conduit of biofluid and impacts FSS-regulated cancer progression is unknown. Dissemination of medulloblastoma (MB) cells into the cerebrospinal fluid initiates metastasis within the central nervous system.

Feasibility and clinical and implementation effectiveness of an adapted early warning signs and symptoms intervention for the early detection of childhood cancer in Cameroon and Kenya: protocol for a quasi-experimental, hybrid type 2 implementation effectiveness study.

Introduction: Childhood cancer accounts for a significant proportion of global childhood mortality, especially in low-income and middle-income countries (LMICs). Unlike many adult malignancies, primary prevention of childhood cancers is not possible. Improving survival requires a two-pronged strategy: earlier diagnosis and effective treatment.