- Research Article
- 10.1016/j.jaccas.2026.107183
Dystrophin-Deficient Cardiomyopathy Due to a Novel Hemizygous DMD Indel Variant.
- Mar 11, 2026
- JACC. Case reports
- Kathryn Albrecht + 8 more +8
Publications from 2021 to 2026
Showing 10 of 218 papers
Dystrophin-Deficient Cardiomyopathy Due to a Novel Hemizygous DMD Indel Variant.
Pediatric addictions and mental health boarding in emergency departments: a scoping review.
Emergency departments (EDs) have seen growing rates of pediatric mental health presentations, a trend exacerbated by the COVID-19 pandemic. Many of these patients will 'board', remaining in the ED for prolonged periods of time while awaiting transfer to an inpatient bed. Boarding disproportionately impacts mental health patients and is associated with worse patient health outcomes and healthcare system inefficiency. The objective of this scoping review is to synthesize the extent and nature of evidence relating to pediatric mental health boarding, and to identify knowledge gaps. Searches were conducted in MEDLINE, Embase, PsycINFO, and CINAHL for peer-reviewed literature involving mental health patients boarding in hospital EDs. Studies underwent eligibility screening for pediatric populations and data extraction by two reviewers.Results are reported per PRISMA-ScR guidelines. Three thousand four hundred and fifty-eight studies were screened for title and abstract eligibility, 386 of which were assessed at full-text. Twenty-eight studies met inclusion criteria. Of these, 19 assessed variables impacting boarding, 18 quantified boarding duration or prevalence, 6 measured the impacts of boarding, 5 assessed interventions to mitigate boarding, and 4 provided consensus recommendations. Eighty-two percent of studies were published within the last 5years and all are from the United States. Reported mean ED boarding times ranged from 5 to 54h across 5 studies. Of 7 studies assessing the impact of COVID-19 on pediatric mental health boarding, all reported that COVID-19 was associated with increased boarding prevalence and/or duration. An emerging body of literature on the burden and impacts of ED boarding among pediatric mental health patients suggests that boarding is a pressing concern in the delivery of pediatric emergency healthcare that has worsened since COVID-19. This is the most comprehensive evidence synthesis on pediatric mental health boarding to date, highlighting the impacts of boarding and the solutions studied to address this problem.
Read moreA novel therapy for pyridoxine-dependent epilepsy due to biallelic pathogenic variants in <i>ALDH7A1</i> : secondary mitochondrial energy deficiency and improvements of neurodevelopmental outcomes on triheptanoin treatment
Triheptanoin is an anaplerotic agent to provide substrates to the TCA cycle. This novel therapy improved neurodevelopmental outcome in our patient with PDE-ALDH7A1. We think that trihepatonoin should be the part of the current standard therapy to improve neurodevelopmental outcomes in patients with PDE-ALDH7A1.
Read moreAntimicrobial Resistance in the British Columbia, Canada, Finfish Aquaculture Industry (2007–2018): A Historical Provincial Collection of Reported Isolates
Antimicrobial use (AMU) in finfish aquaculture production raises concerns about the link between AMU and the development of antimicrobial resistance (AMR) in bacteria found in aquatic organisms and potential transmission to humans and the environment. The objective of this study was to describe the antimicrobial susceptibilities of a historical collection of bacterial isolates from diagnostic submissions from farmed finfish in British Columbia (BC), Canada. Antimicrobial susceptibility data were obtained from the BC Ministry of Agriculture via submissions to the Animal Health Centre for 2007 to 2018 for florfenicol (FLOR), oxytetracycline (OXY), trimethoprim-sulfadiazine (SXT), and triple-sulfa compound (TRI). There were 1237 unique isolates from all finfish species (68 unique bacterial species), of which 1042 were from Atlantic salmon. For all fish species, the most common bacterial species isolated were Aeromonas salmonicida (n = 174), Aliivibrio wodanis (n = 84), and Yersinia ruckeri (n = 79). Resistance was detected to most antimicrobials tested, but levels were generally low. Resistance to FLOR was only detected in A. salmonicida. Low annual isolate numbers precluded genera-specific annual comparisons for all pathogens. Multi-drug resistance was detected, but at low levels. These results provide an important baseline for antimicrobial susceptibility data from bacterial isolates that may cause disease in finfish aquaculture in BC, Canada that will support future Canadian AMR surveillance in farmed aquaculture.
Read moreLeveraging Nursing Regulation to Achieve Workforce, Health System and Societal Goals.
Nursing regulators must uphold their mandate to protect the public amid increasing scrutiny and shifting expectations. As understandings of the public interest evolve, so too must regulatory policy and practice. In this commentary, we explore the role of nursing regulation in addressing system-level challenges, including workforce dynamics, racism, misinformation and planetary health. Stronger investment by governments and nursing leadership in regulatory research, as well as support for partnerships between regulators and researchers, can help build an evidence base demonstrating the unique role of regulation in not only supporting a safe, competent workforce but also advancing equity and sustainability in health systems.
Read moreEnrichment of the Canadian Partnership for Tomorrow’s Health Study: Protocol for Administering Multiple Online Dietary and Movement Behavior Assessment Tools in a Longitudinal Cohort Study
BackgroundSuboptimal diet quality and physical inactivity are key risk factors for chronic disease and disability in Canada. However, the lack of high-quality population-level data hinders the development of evidence-based strategies to support improvements in diet quality, movement behaviors (physical inactivity, activity, and sleep), and health. The lack of data is also a barrier to developing capacity in diet and physical activity assessment and epidemiology in Canada.ObjectiveThis protocol describes the development of the largest known repository of dietary intake and movement behavior data in Canada by drawing upon an existing longitudinal cohort study, the Canadian Partnership for Tomorrow’s Health (CanPath). In the short-term, the data will be used to examine associations between system factors (eg, retail food environments) and dietary intake. In the longer-term, data will be available to pursue a range of research questions, including longitudinal associations between diet, movement behavior, and health outcomes.MethodsParticipants in CanPath (>330,000 adults) who can complete online questionnaires are eligible and will be asked to complete a baseline web-based questionnaire including questions on demographic characteristics and screeners capturing dietary intake and movement behaviors. Subsequently, participants will be invited to complete an online 24-hour dietary recall using the Automated Self-Administered 24-Hour Dietary Assessment Tool (ASA24-Canada-2018) and an online 24-hour activity recall using Activities Completed Over Time in 24 Hours (ACT24). Repeat recalls will be administered 1-2 weeks later. A subset of participants will be invited to complete 2 additional ASA24-Canada-2018 and Activities Completed Over Time in 24 Hours recalls 6 months later. One year after baseline, participants will be invited to complete past-year diet and movement behavior questionnaires. In Québec, dietary intake and movement behavior data are from 3000 CanPath participants enrolled in the NutriQuébec study. Participant addresses will be linked to geospatial data on the food, built, and social environment.ResultsData collection began in 2025. As of manuscript acceptance (November 4, 2025), 3171 participants had been recruited. Data processing and cleaning will be completed in 2027, and analyses will occur in 2028. It is anticipated that dietary intake and movement behavior data will be available for up to 100,000 adults.ConclusionsThis protocol outlines the collection of detailed data on dietary intake and movement behavior in a large cohort spanning all provinces in Canada. In addition to allowing examination of a range of research questions related to diet, movement behavior, and health, the combination of assessment tools will support methodological research, including expanding analytical strategies to mitigate the effects of error in dietary and movement behavior data. This effort will also build capacity in the collection, processing, and harmonization of dietary and movement behavior data among cohorts and provide a training ground for emerging researchers.International Registered Report Identifier (IRRID)PRR1-10.2196/71680
Read moreEffective healthcare coverage in Canada: The caring and responding in Edmonton project.
Evaluating medical and rehabilitation programs for long COVID: utilization, health outcomes, and healthcare costs.
Human papillomavirus vaccination patterns among youth aged 16–26 in the context of publicly-funded eligibility changes: a retrospective cross-sectional study from Alberta, Canada
BackgroundHuman papillomavirus (HPV) vaccination programs in Canada primarily target school-aged adolescents (≤ 15 years) through publicly-funded, school-based delivery. In the province of Alberta, publicly-funded HPV vaccination for older youth (age ≤ 26) began with a risk-based program (i.e. availability limited to those at elevated risk for HPV infection and/or progression to disease) in 2018, expanding to an age-based program (i.e. available to all individuals within funded age groups) in July 2020. This study explores HPV vaccination patterns among 16–26-year-olds during this time period, in the context of the COVID-19 pandemic.MethodsWe conducted a retrospective cross-sectional study using population-wide administrative health data (February 2018–December 2023). Rates of HPV vaccination per 10,000 individuals were calculated by sex and age group, comparing the quarterly absolute and percent difference between the pre-pandemic risk-based period and the pandemic age-based period. We also calculated the quarterly proportion of doses delivered by sex (stratified by age group), delivery site, and individual residence (metro/urban/rural, age of arrival to province).ResultsHPV vaccine administration rates were higher among females than male throughout the study period (84–224 doses/10,000 compared to 40–135 doses/10,000). Rates dropped sharply after pandemic onset (March 2020), with the largest and most sustained drops among 16–17-year-olds (156 doses/10,000). Rates for 18–21 and 22–26-year-olds, who were newly eligible under the age-based program, returned to or exceeded pre-pandemic levels by 2022. Delivery site distribution shifted, with increased vaccination at post-secondary and STI health centres. Dose delivery remained consistently highest among metro residents, and individuals who entered Alberta after age 16.ConclusionsExpansion to an age-based HPV vaccination program may have mitigated pandemic-related declines in vaccination rates among older youth, though overall administration remained low. Results highlight persistent inequities by sex and geography, and underscore the importance of targeted promotion, improved service delivery, and expanded provider engagement to optimize HPV vaccine uptake outside school-based settings.Supplementary InformationThe online version contains supplementary material available at 10.1186/s12889-025-25283-7.
Read moreLabor trafficking among migrant populations: a scoping review and qualitative interview study with stakeholders
Introduction Labor trafficking is a widespread yet underreported form of exploitation that disproportionately affects migrant populations. Migrants often face coercion, deception, and abuse across various labor sectors, and these circumstances are often exacerbated by structural inequalities and legal protections. There is a pressing need to synthesize existing knowledge and integrate stakeholders’ perspectives to inform future prevention and policies. Objective This study examines the scope, nature, and thematic trends in the literature on labor trafficking among migrant populations and augments these findings with qualitative insights from stakeholders working directly with trafficked migrant populations. Methods A scoping review was conducted following A scoping review was conducted according to the PRISMA guidelines. Nineteen peer-reviewed empirical studies published between 2014 and 2024 were analyzed across four databases. In parallel, 17 semi-structured interviews were conducted with service providers, researchers, and advocates experienced in labor trafficking. Structural violence theory guided the thematic analysis using Quirkos software. Results Seven major themes emerged: (1) informal recruitment networks, (2) hazardous and exploitative working conditions, (3) psychological and physical coercion, (4) economic and structural vulnerability, (5) gender-based vulnerabilities, (6) inadequate legal protections and enforcement gaps, and (7) mental health impacts. The qualitative data highlight the lived realities and systemic challenges trafficked migrants face and help validate and enrich the findings from the scoping review. Conclusion Labor trafficking among migrants is driven by economic, legal, and social vulnerabilities. Comprehensive, survivor-centered policies are urgently needed: reforms to recruitment practices, expanded mental health support, and stronger legal frameworks. The study findings call for cross-sectoral collaboration and the integration of migrant voices in program and policy design to combat trafficking for labor exploitation.
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