Germline Susceptibility to Renal Cell Carcinoma and Implications for Genetic Screening.

PURPOSE: Genetic susceptibility to nonsyndromic renal cell carcinoma (RCC) remains poorly understood, especially for different histological subtypes, as does variations in genetic predisposition in different populations. The objectives of this study were to identify risk genes for RCC in the Canadian population, investigate their clinical significance, and evaluate variations in germline pathogenic variants (PVs) among patients with RCC across the globe. MATERIALS AND METHODS: We conducted targeted sequencing of 19 RCC-related and 27 cancer predisposition genes for 960 patients with RCC from Canada and identified genes enriched in rare germline PVs in RCC compared with cancer-free controls. We combined our results with those reported for patients from Japan, the United Kingdom, and the United States to investigate PV variations in different populations. Furthermore, we evaluated the performance of referral criteria for genetic screening for including patients with rare PVs. RESULTS: We identified 39 germline PVs in 56 patients (5.8%) from the Canadian cohort. Compared with cancer-free controls, PVs in CHEK2 (odds ratio [OR], 4.8 [95% CI, 2.7 to 7.9], P = 3.94 × 10-5) and ATM (OR, 4.5 [95% CI, 2.0 to 8.7], P = .016) were significantly enriched in patients with clear cell, whereas PVs in FH (OR, 215.1 [95% CI, 64.4 to 597.8], P = 6.14 × 10-9) were enriched in patients with non-clear cell RCCs. PVs in BRCA1, BRCA2, and ATM were associated with metastasis (P = .003). Comparative analyses showed an enrichment of TP53 PVs in patients from Japan, of CHEK2 and ATM in patients from Canada, the United States and the United Kingdom, and of FH and BAP1 in the United States. CONCLUSION: CHEK2, ATM, and FH are risk genes for RCC in the Canadian population, whereas PVs in BRCA1/2 and ATM are associated with risk of metastasis. Globally, clinical guidelines for genetic screening in RCC fail to include more than 70% of patients with rare germline PVs.

Risk and protective factors of asthma and mental health condition multimorbidity in a national sample of Canadian children.

BACKGROUND: The coexistence of childhood asthma and mental health (MH) conditions can impact management and health outcomes but we need to better understand the etiology of multimorbidity. We investigated the association between childhood asthma and MH conditions as well as the determinants of their coexistence. METHODS: We used data from the Canadian Health Survey of Children and Youth 2019 (3-17 years; n = 47,871), a cross-sectional, nationally representative Statistics Canada dataset. Our primary outcome was condition status (no asthma or MH condition; asthma only; MH condition only; both asthma, and a MH condition (AMHM)). Predictors of condition status were assessed using multiple multinomial logistic regression. Sensitivity analyses considered individual MH conditions. RESULTS: MH condition prevalence was almost two-fold higher among those with asthma than those without asthma (21.1% vs. 11.6%, respectively). There were increased risks of each condition category associated with having allergies, other chronic conditions, and family members smoking in the home while there were protective associations with each condition status category for being female and born outside of Canada. Four additional variables were associated with AMHM and MH condition presence with one additional variable associated with both AMHM and asthma. In sensitivity analyses, the associations tended to be similar for most characteristics, although there was some variability. CONCLUSION: There are common risk factors of asthma and MH conditions along with their multimorbidity with a tendency for MH risk factors to be associated with multimorbidity. MH condition presence is common and important to assess among children with asthma.

How to build resiliency in autistic individuals: an implication to advance mental health.

INTRODUCTION: Individuals on the autism spectrum (ASD) often experience poor mental health and coping strategies compared to their peers due to social exclusion and co-occurring conditions. Resiliency has been identified as a key factor in preventing adverse outcomes and promoting mental health. Therefore, it is important to determine what strategies can be used to build resiliency among autistic individuals. The current paper is one of the first studies that aims to collect information from autistic individuals and their caregivers on potential strategies to enhance resiliency. METHODS: We interviewed 18 participants from various provinces in Canada, comprising of 13 autistic individuals and 5 parents. We used thematic analysis to identify patterns in the data. RESULTS: Thematic analysis revealed three themes to indicate strategies that could be used to enhance resiliency, including: (a) self-reliant strategies, (b) using community-based facilities, and (c) contextual and individual characteristics. CONCLUSION: Although the body of literature on resiliency is evolving, this paper provides a unique perspective as it is one of the few studies that considers the experiences of individuals on the spectrum. In addition, this study focuses on identifying and describing specific strategies that can be used to enhance resiliency and mental health, which consequently can help address the existing gaps in knowledge and practice.

Whole-genome sequencing of Western Canadian Borrelia spp. collected from diverse tick and animal hosts reveals short-lived local genotypes interspersed with longer-lived continental genotypes.

Changing climates are allowing the geographic expansion of ticks and their animal hosts, increasing the risk of Borrelia-caused zoonoses in Canada. However, little is known about the genomic diversity of Borrelia from the west of the Canadian Rockies and from the tick vectors Ixodes pacificus, Ixodes auritulus and Ixodes angustus. Here, we report the whole-genome shotgun sequences of 51 Borrelia isolates from multiple tick species collected on a range of animal hosts between 1993 and 2016, located primarily in coastal British Columbia. The bacterial isolates represented three different species from the Lyme disease-causing Borrelia burgdorferi sensu lato genospecies complex [Borrelia burgdorferi sensu stricto (n=47), Borrelia americana (n=3) and Borrelia bissettiae (n=1)]. The traditional eight-gene multi-locus sequence typing (MLST) strategy was applied to facilitate comparisons across studies. This identified 13 known Borrelia sequence types (STs), established 6 new STs, and assigned 5 novel types to the nearest sequence types. B. burgdorferi s. s. isolates were further differentiated into ten ospC types, plus one novel ospC with less than 92 % nucleotide identity to all previously defined ospC types. The MLST types resampled over extended time periods belonged to previously described STs that are distributed across North America. The most geographically widespread ST, ST.12, was isolated from all three tick species. Conversely, new B. burgdorferi s. s. STs from Vancouver Island and the Vancouver region were only detected for short periods, revealing a surprising transience in space, time and host tick species, possibly due to displacement by longer-lived genotypes that expanded across North America.This article contains data hosted by Microreact.

Patient satisfaction with the management of refractory and unexplained chronic cough in Canada: Results from a national survey.

BACKGROUND: Chronic cough (persisting for ≥8 weeks) is a common disorder affecting approximately 5 to 10% of adults worldwide that is sometimes refractory to treatment (refractory chronic cough [RCC]) or has no identifiable cause (unexplained chronic cough [UCC]). There is minimal information on the patient's experience of RCC/UCC in Canada. The aim of this study was to evaluate the patient journey and perceptions related to RCC/UCC management in Canada. METHODS: Our exploratory study included Canadians in the Leger Opinion Panel and focused on individuals with RCC or UCC. Key entry criteria were: age ≥18 years, cough on most days for ≥8 weeks, no smoking within 1 year, no serious respiratory disease or lung cancer, and not taking angiotensin-converting enzyme inhibitors. Individuals who met entry criteria were invited to complete an approximately 30-minute online survey with questions on demographic characteristics, healthcare professional (HCP) interactions, diagnosis of underlying conditions, current treatments, and satisfaction with HCPs and chronic cough therapies. RESULTS: A total of 49,076 individuals completed the chronic cough screening questionnaire (July 30, 2021 to September 1, 2021): 1,620 (3.3%) met entry criteria for RCC or UCC, and 1,046 (2.1%) completed the online survey (mean age of 45 years, 61% female). Most respondents (58%) reported their chronic cough was managed by a general practitioner (GP). Forty-four percent of respondents did not have a diagnosis of an underlying condition for their cough. Breathing tests (39%) and chest imaging (34%) were the most common diagnostic tests. Cough suppressants (18%) were the most frequent current treatment. Respondents were moderately satisfied with their HCPs, but more than half considered their treatment ineffective and 34% had considered no longer seeking medical attention because of a lack of treatment success. CONCLUSIONS: Individuals with RCC/UCC in Canada are largely unsatisfied with the effectiveness of treatment. Additional HCP education and new treatment options are needed to improve patient satisfaction.

Scale up of the learning circles: a participatory action approach to support local food systems in four diverse First Nations school communities within Canada.

BACKGROUND: Addressing Indigenous food security and food sovereignty calls for community-driven strategies to improve access to and availability of traditional and local food. Participatory approaches that integrate Indigenous leadership have supported successful program implementation. Learning Circles: Local Healthy Food to School is a participatory program that convenes a range of stakeholders including food producers, educators and Knowledge Keepers to plan, implement and monitor local food system action. Pilot work (2014-2015) in Haida Gwaii, British Columbia (BC), showed promising results of the Learning Circles (LC) approach in enhancing local and traditional food access, knowledge and skills among youth and adolescents. The objective of the current evaluation was therefore to examine the process of scaling-up the LC vertically within the Haida Nation; and horizontally across three diverse First Nations contexts: Gitxsan Nation, Hazelton /Upper Skeena, BC; Ministikwan Lake Cree Nation, Saskatchewan; and Black River First Nation, Manitoba between 2016 and 2019. METHODS: An implementation science framework, Foster-Fishman and Watson's (2012) ABLe Change Framework, was used to understand the LC as a participatory approach to facilitate community capacity building to strengthen local food systems. Interviews (n = 52), meeting summaries (n = 44) and tracking sheets (n = 39) were thematically analyzed. RESULTS: The LC facilitated a collaborative process to: (1) build on strengths and explore ways to increase readiness and capacity to reclaim traditional and local food systems; (2) strengthen connections to land, traditional knowledge and ways of life; (3) foster community-level action and multi-sector partnerships; (4) drive actions towards decolonization through revitalization of traditional foods; (5) improve availability of and appreciation for local healthy and traditional foods in school communities; and (6) promote holistic wellness through steps towards food sovereignty and food security. Scale-up within Haida Gwaii supported a growing, robust local and traditional food system and enhanced Haida leadership. The approach worked well in other First Nations contexts, though baseline capacity and the presence of champions were enabling factors. CONCLUSIONS: Findings highlight LC as a participatory approach to build capacity and support iterative planning-to-action in community food systems. Identified strengths and challenges support opportunities to expand, adopt and modify the LC approach in other Indigenous communities with diverse food systems.

Newly Qualified Canadian Nurses' Experiences With Digital Health in the Workplace: Comparative Qualitative Analysis.

BACKGROUND: Clinical practice settings have increasingly become dependent on the use of digital or eHealth technologies such as electronic health records. It is vitally important to support nurses in adapting to digitalized health care systems; however, little is known about nursing graduates' experiences as they transition to the workplace. OBJECTIVE: This study aims to (1) describe newly qualified nurses' experiences with digital health in the workplace, and (2) identify strategies that could help support new graduates' transition and practice with digital health. METHODS: An exploratory descriptive qualitative design was used. A total of 14 nurses from Eastern and Western Canada participated in semistructured interviews and data were analyzed using inductive content analysis. RESULTS: Three themes were identified: (1) experiences before becoming a registered nurse, (2) experiences upon joining the workplace, and (3) suggestions for bridging the gap in transition to digital health practice. Findings revealed more similarities than differences between participants with respect to gaps in digital health education, technology-related challenges, and their influence on nursing practice. CONCLUSIONS: Digital health is the foundation of contemporary health care; therefore, comprehensive education during nursing school and throughout professional nursing practice, as well as organizational support and policy, are critical pillars. Health systems investing in digital health technologies must create supportive work environments for nurses to thrive in technologically rich environments and increase their capacity to deliver the digital health future.

Verrucous Carcinoma of the Foot: A Single Canadian Center Experience on Diagnosis, Management, and Outcomes.

INTRODUCTION: Verrucous carcinoma (VC) was first described in 1948 by Dr. Ackerman. It is a low-grade cutaneous squamous carcinoma that usually develops in the oral cavity, the anogenital region, and the plantar surface of the foot. Clinically, there is low suspicion for malignancy given the slow growth of VC lesions and their wart-like appearance. Diagnosis can be difficult because of the benign histological appearance with well-differentiated cells and absence of dysplasia. Surgical excision is the only satisfactory form of treatment for plantar VC; however, this becomes difficult given its benign clinical appearance and the pathologic misinterpretation of the lesion as a benign hyperplasia. While there are case reports and retrospective studies of patients with plantar VC in the literature, we present the largest case series of plantar VC within North America, with recurrence despite negative margins. METHODS: We report on all the plantar VC excised between 2014-2023. We report six cases of VC, their treatment, and their outcomes. RESULTS: Six patients obtained a diagnosis of plantar VC by incisional biopsy. All patients underwent excision of their lesions and had negative margins reported on the final pathology. All patients developed nonhealing wounds at the site of their lesion excision; therefore, biopsies were performed to confirm a recurrence. All patients had a recurrence of VC at the initial site. All patients underwent re-excision of the lesions. Despite negative margins again on final pathology, all patients had a subsequent second recurrence. Ultimately, all patients underwent an amputation as definitive management. Each patient had an average of 3 operations. There were 4 different surgeons and different pathologists reporting their findings. CONCLUSIONS: Our experience with plantar VC suggests that an aggressive approach to surgical management is needed. Furthermore, management is optimized with the combined expertise of an experienced dermatopathologist and surgeon. Despite negative margins and repeated excisions, VC lesions recur and invade local tissues to the extent that only amputation of the involved foot has resulted in cure.

Decades of monitoring plastic pollution in seabirds in Canada: Spatial, temporal, and methodological insights.

Plastic ingestion by seabirds is an increasing issue worldwide, yet species can vary in ingestion based on ecological and morphological differences. This provokes the ecological question of which species are better suited to monitor plastic ingestion across regions and time. In Canada, we examined plastic ingestion in sympatric northern fulmars (Fulmarus glacialis), black-legged kittiwakes (Rissa tridactyla), thick-billed murres (Uria lomvia), and black guillemots (Cepphus grylle). Here, we present new data and compare to historical work to inform plastic pollution monitoring in Canada. In 2021, 51 % of fulmars, 7 % of kittiwakes and 7 % of murres contained plastic, whereas guillemots had no pieces >1 mm. Regardless of the methods used to collect and process samples, fulmars continue to have low levels of ingestion compared to the European Arctic, but high levels compared to other species in the Canadian Arctic, emphasizing their continued utility as a monitoring tool for plastic pollution in Canada.

Laboratory Testing for Powassan Virus: Past, Present, and Future.

Powassan virus is a tick-borne flavivirus that can cause severe neuroinvasive disease, with areas of endemicity in the Northeast and Midwest United States, Canada, and Russia. Diagnosis is challenging and relies on a high index of suspicion and choosing the right test based on duration of infection and the patient's immune status. This review covers laboratory testing for Powassan virus, including historical considerations, modern options, and methods being developed in the research space.

Transformation of primary care settings implementing a co-located team-based care model: a scoping review.

BACKGROUND: In Canada, primary care reforms led to the implementation of various team-based care models to improve access and provide more comprehensive care for patients. Despite these advances, ongoing challenges remain. The aim of this scoping review is to explore current understanding of the functioning of these care models as well as the contexts in which they have emerged and their impact on the population, providers and healthcare costs. METHODS: The Medline and CINAHL databases were consulted. To be included, team-based care models had to be co-located, involve a family physician, specify the other professionals included, and provide information about their organization, their relevance and their impact within a primary care context. Models based on inter-professional intervention programs were excluded. The organization and coordination of services, the emerging contexts and the impact on the population, providers and healthcare costs were analysed. RESULTS: A total of 5952 studies were screened after removing duplicates; 15 articles were selected for final analysis. There was considerable variation in the information available as well as the terms used to describe the models. They are operationalized in various ways, generally consistent with the Patient's Medical Home vision. Except for nurses, the inclusion of other types of professionals is variable and tends to be associated with the specific nature of the services offered. The models primarily focus on individuals with mental health conditions and chronic diseases. They appear to generally satisfy the expectations of the overarching framework of a high-performing team-based primary care model at patient and provider levels. However, economic factors are seldom integrated in their evaluations. CONCLUSIONS: The studies rarely provide an overarching view that permits an understanding of the specific contexts, service organization, their impacts, and the broader context of implementation, making it difficult to establish universal guidelines for the operationalization of effective models. Negotiating the inherent complexity associated with implementing models requires a collaborative approach between various stakeholders, including patients, to tailor the models to the specific needs and characteristics of populations in given areas, and reflection about the professionals to be included in delivering these services.

Equity Lens on Canada's COVID-19 Response: Review of the Literature.

BACKGROUND: A growing literature has documented how the secondary effects of the COVID-19 pandemic have compounded socioeconomic vulnerabilities already present in society, particularly across social categories such as gender, race, class, and socioeconomic status. Such effects demonstrate how pandemic response policies act as structural determinants of health to influence not only direct health outcomes but also intermediary outcomes, such as access to education or income. METHODS: This review aims to scope research that analyzes pandemic response policies in Canada from an equity perspective, to identify common themes, recommendations, and gaps. RESULTS: Fourteen studies were thematically analyzed, the majority being qualitative policy document analysis, applying critical frameworks and focused on effects on select priority populations. Analysis of economic and labour policies indicates a lack of consideration for the specific needs of priority populations, and those engaged in precarious, informal, and essential labour. Analysis of social policies illustrate the wide-ranging effects of school and service closures, particularly on women and children. Furthermore, these policies lacked consideration of populations marginalized during the pandemic, include older adults and their caregivers, as well as lack of consideration of the diversity of Indigenous communities. Recommendations proposed in this review call for developing policy responses that address persistent social and economic inequities, pandemic response policies tailored to the needs of priority populations and more meaningful consultation during policy development. CONCLUSION: The limited number of studies suggests there is still much scope for research recognizing policies as structural determinants of health inequities, including research which takes an intersectional approach.

System-Based Interventions to Address Physician Burnout: A Qualitative Study of Canadian Family Physicians' Experiences During the COVID-19 Pandemic.

BACKGROUND: Medical professionals experienced high rates of burnout and moral distress during the COVID-19 pandemic. In Canada, burnout has been linked to a growing number of family physicians (FPs) leaving the workforce, increasing the number of patients without access to a regular doctor. This study explores the different factors that impacted FPs' experience with burnout and moral distress during the pandemic, with the goal of identifying system-based interventions aimed at supporting FP well-being and improving retention. METHODS: We conducted semi-structured qualitative interviews with FPs across four health regions in Canada. Participants were asked about the roles they assumed during different stages of the pandemic, and they were also encouraged to describe their well-being, including relevant supports and barriers. We used thematic analysis to examine themes relating to FP mental health and well-being. RESULTS: We interviewed 68 FPs across the four health regions. We identified two overarching themes related to moral distress and burnout: (1) inability to provide appropriate care, and (2) system-related stressors and buffers of burnout. FPs expressed concern about the quality of care their patients were able to receive during the pandemic, citing instances where pandemic restrictions limited their ability to access critical preventative and diagnostic services. Participants also described four factors that alleviated or exacerbated feelings of burnout, including: (1) workload, (2) payment model, (3) locum coverage, and (4) team and peer support. CONCLUSION: The COVID-19 pandemic limited FPs' ability to provide quality care to patients, and contributed to increased moral distress and burnout. These findings highlight the importance of implementing system-wide interventions to improve FP well-being during public health emergencies. These could include the expansion of interprofessional team-based models of care, alternate remuneration models for primary care (ie, non-fee-for-service), organized locum programs, and the availability of short-term insurance programs to cover fixed practice operating costs.

Examining the Contextual Factors Influencing Intersectoral Action for the SDGs: Insights From Canadian Federal Policy Leaders.

BACKGROUND: The interdependent and intersecting nature of the Sustainable Development Goals (SDGs) require collaboration across government sectors, and it is likely that departments with few past interactions will find themselves engaged in joint missions on SDG projects. Intersectoral action (IA) is becoming a common framework for different sectors to work together. Understanding the factors in the environment external to policy teams enacting IA is crucial for making progress on the SDGs. METHODS: Interviews [n=17] with senior public servants leading SDG work in nine departments in the federal government of Canada were conducted to elicit information about issues affecting how departments engage in IA for the SDGs. Transcripts were coded based on a set of factors identified in a background review of 20 documents related to Canada's progress on SDGs. Iterative group thematic analysis by the authors illuminated a set of domestic and global contextual factors affecting IA processes for the SDGs. RESULTS: The mechanisms for successful IA were identified as facilitative governance, leadership by a central coordinating office, supportive staff, flexible and clear reporting structures, adequate resources, and targeted skills development focused on collaboration and cross-sector learning. Factors that affect IA positively include alignment of the SDG agenda with domestic and global political priorities, and the co-occurrence of social issues such as Indigenous rights and gender equity that raise awareness of and support for related SDGs. Factors that affect IA negatively include competing conceptual frameworks for approaching shared priorities, lack of capacity for "big picture" thinking among bureaucratic staff, and global disruptions that shift national priorities away from the SDGs. CONCLUSION: IA is becoming a normal way of working on problems that cross otherwise separate government accountabilities. The success of these collaborations can be impacted by contextual factors beyond any one department's control.

Canadian status of "not acceptable" drugs as evaluated by Prescrire: A cohort study.

INTRODUCTION: The independent French drug bulletin Prescrire International rates the therapeutic innovation of new drug-indications approved for marketing in France using an ordinal scale with the lowest rating being "not acceptable". This study investigates whether these drugs were approved by Health Canada. METHODS: A list of "not acceptable" drug-indications was generated by handsearching all issues of Prescrire International between January 2013 and December 2022. The generic names, indications and reasons why Prescrire labeled them not acceptable were recorded. The approval date was determined by consulting the website of the European Medicines Agency (EMA). The status of these drug-indications in Canada was determined by searching multiple Health Canada websites. Therapeutic Evaluations for new drug-indications done by the Patented Medicine Prices Review Board (PMPRB) were recorded. RESULTS: Prescrire rated 57 new drug-indications and 42 new indications for existing drugs as not acceptable. Seventy of these drug-indications were available in Canada- 42 new drug-indications and 28 new indications for existing drugs. Twenty (90.9%) of the 22 new drugs evaluated by the PMPRB were rated as slight/no therapeutic improvement and 2 as moderate therapeutic improvement. The median difference, in days, between approval times by the EMA/ANSM and Health Canada was 129 (interquartile range -102, 341) in favour of the former. DISCUSSION: The majority of the not acceptable drug-indications were approved by Health Canada. The difference between when Prescrire and Health Canada examined the evidence for these drug-indications is unlikely to explain the difference in their evaluations. A change in regulatory standards at Health Canada may be one factor behind the presence of these drugs. To what degree those drugs led to more harms than benefits for patients who are taking them needs to be urgently investigated. Finally, the reasoning behind Health Canada's approval of these drugs should be interrogated.