COVID-19 Pivoted Virtual Skills Teaching Model: Project ECHO Ontario Skin and Wound Care Boot Camp.

OBJECTIVE: To describe a virtual, competency-based skin and wound care (SWC) skills training model. The ECHO (Extension for Community Healthcare Outcomes) Ontario SWC pivoted from an in-person boot camp to a virtual format because of the COVID-19 pandemic. METHODS: An outcome-based program evaluation was conducted. Participants first watched guided commentary and videos of experts performing in nine SWC multiskills videos, then practiced and video-recorded themselves performing those skills; these recordings were assessed by facilitators. Data were collected using pre-post surveys and rubric-based assessments. Descriptive statistics and thematic analysis were applied to data analysis. RESULTS: Fifty-five healthcare professionals participated in the virtual boot camp, measured by the submission of at least one video. A total of 216 videos were submitted and 215 assessment rubrics were completed. Twenty-nine participants completed the pre-boot camp survey (53% response rate) and 26 responded to the post-boot camp survey (47% response rate). The strengths of the boot camp included the applicability of virtual learning to clinical settings, boot camp supplies, tool kits, and teaching strategies. The analysis of survey responses indicated that average proficiency scores were greater than 80% for three videos, 50% to 70% for three of the videos, and less than 50% for three of the videos. Participants received lower scores in local wound care and hand washing points of contact. The barriers of the boot camp included technical issues, time, level of knowledge required at times, and lack of equipment and access to interprofessional teams. CONCLUSIONS: This virtual ECHO SWC model expanded access to practical skills acquisition. The professional development model presented here is generalizable to other healthcare domains.

High-quality read-based phasing of cystic fibrosis cohort informs genetic understanding of disease modification.

Phasing of heterozygous alleles is critical for interpretation of cis-effects of disease-relevant variation. We sequenced 477 individuals with cystic fibrosis (CF) using linked-read sequencing, which display an average phase block N50 of 4.39 Mb. We use these samples to construct a graph representation of CFTR haplotypes, demonstrating its utility for understanding complex CF alleles. These are visualized in a Web app, CFTbaRcodes, that enables interactive exploration of CFTR haplotypes present in this cohort. We perform fine-mapping and phasing of the chr7q35 trypsinogen locus associated with CF meconium ileus, an intestinal obstruction at birth associated with more severe CF outcomes and pancreatic disease. A 20-kb deletion polymorphism and a PRSS2 missense variant p.Thr8Ile (rs62473563) are shown to independently contribute to meconium ileus risk (p = 0.0028, p = 0.011, respectively) and are PRSS2 pancreas eQTLs (p = 9.5 × 10-7 and p = 1.4 × 10-4, respectively), suggesting the mechanism by which these polymorphisms contribute to CF. The phase information from linked reads provides a putative causal explanation for variation at a CF-relevant locus, which also has implications for the genetic basis of non-CF pancreatitis, to which this locus has been reported to contribute.

Developing a Curriculum for Addressing the Opioid Crisis: A National Collaborative Process.

BACKGROUND: The burgeoning use of opioids and the lack of attention to the safe prescribing, storage, and disposal of these drugs remains a societal concern. Education plays a critical role in providing a comprehensive response to this crisis by closing the training gaps and empowering the next generation of physicians with the knowledge, skills, and resources needed to diagnose, treat and manage pain and substance use. Curricular Development: The Association of Faculties of Medicine of Canada (AFMC) developed a competency-based, bilingual curriculum for undergraduate medical students to be implemented in all Canadian medical schools. The authors describe the principles and framework for developing a national curriculum. The curriculum design process was situated in the Knowledge to Action theoretical framework. Throughout the development of this curriculum, different stakeholder groups were engaged, and their needs and contexts were considered. CONCLUSION: The curriculum ensures that consistent information is taught across all medical schools to educate future physicians on pain management, opioid stewardship and substance use disorder.

Genetic evidence supports the development of SLC26A9 targeting therapies for the treatment of lung disease.

Over 400 variants in the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) are CF-causing. CFTR modulators target variants to improve lung function, but marked variability in response exists and current therapies do not address all CF-causing variants highlighting unmet needs. Alternative epithelial ion channel/transporters such as SLC26A9 could compensate for CFTR dysfunction, providing therapeutic targets that may benefit all individuals with CF. We investigate the relationship between rs7512462, a marker of SLC26A9 activity, and lung function pre- and post-treatment with CFTR modulators in Canadian and US CF cohorts, in the general population, and in those with chronic obstructive pulmonary disease (COPD). Rs7512462 CC genotype is associated with greater lung function in CF individuals with minimal function variants (for which there are currently no approved therapies; p = 0.008); and for gating (p = 0.033) and p.Phe508del/ p.Phe508del (p = 0.006) genotypes upon treatment with CFTR modulators. In parallel, human nasal epithelia with CC and p.Phe508del/p.Phe508del after Ussing chamber analysis of a combination of approved and experimental modulator treatments show greater CFTR function (p = 0.0022). Beyond CF, rs7512462 is associated with peak expiratory flow in a meta-analysis of the UK Biobank and Spirometa Consortium (p = 2.74 × 10-44) and provides p = 0.0891 in an analysis of COPD case-control status in the UK Biobank defined by spirometry. These findings support SLC26A9 as a therapeutic target to improve lung function for all people with CF and in individuals with other obstructive lung diseases.

Outcomes of Cystic Fibrosis Screening-Positive Infants With Inconclusive Diagnosis at School Age.

BACKGROUND AND OBJECTIVES: Cystic fibrosis (CF) screen-positive infants with an inconclusive diagnosis (CFSPID) are infants in whom sweat testing and genetic analysis does not resolve a CF diagnosis. Lack of knowledge about the health outcome of these children who require clinical follow-up challenges effective consultation. Early predictive biomarkers to delineate the CF risk would allow a more targeted approach to these children. METHODS: Prospective, longitudinal, multicenter, Canada-wide cohort study of CF positive-screened newborns with 1 to 2 cystic fibrosis transmembrane conductance regulator gene variants, of which at least 1 is not known to be CF-causing and/or a sweat chloride between 30 and 59 mmol/L. These were monitored for conversion to a CF diagnosis, pulmonary, and nutritional outcomes. RESULTS: The mean observation period was 7.7 (95% confidence interval 7.1 to 8.4) years. A CF diagnosis was established for 24 of the 115 children with CFSPID (21%) either because of reinterpretation of the cystic fibrosis transmembrane conductance regulator genotype or because of increase in sweat chloride concentration ≥60 mmol/L. An initial sweat chloride of ≥40 mmol/l predicted conversion to CF on the basis of sweat testing. The 91 remaining children with CFSPID were pancreatic sufficient and showed normal growth until school age. Pulmonary function as well as lung clearance index in a subgroup of children with CFSPID were similar to that of healthy controls. CONCLUSIONS: Children with CFSPID have good nutritional and pulmonary outcomes at school age, but rates of reclassifying the diagnosis are high. The initial sweat chloride test can be used as a biomarker to predict the risk for CF in CFSPID.

Cystic fibrosis-related diabetes onset can be predicted using biomarkers measured at birth.

PURPOSE: Cystic fibrosis (CF), caused by pathogenic variants in the CF transmembrane conductance regulator (CFTR), affects multiple organs including the exocrine pancreas, which is a causal contributor to cystic fibrosis-related diabetes (CFRD). Untreated CFRD causes increased CF-related mortality whereas early detection can improve outcomes. METHODS: Using genetic and easily accessible clinical measures available at birth, we constructed a CFRD prediction model using the Canadian CF Gene Modifier Study (CGS; n = 1,958) and validated it in the French CF Gene Modifier Study (FGMS; n = 1,003). We investigated genetic variants shown to associate with CF disease severity across multiple organs in genome-wide association studies. RESULTS: The strongest predictors included sex, CFTR severity score, and several genetic variants including one annotated to PRSS1, which encodes cationic trypsinogen. The final model defined in the CGS shows excellent agreement when validated on the FGMS, and the risk classifier shows slightly better performance at predicting CFRD risk later in life in both studies. CONCLUSION: We demonstrated clinical utility by comparing CFRD prevalence rates between the top 10% of individuals with the highest risk and the bottom 10% with the lowest risk. A web-based application was developed to provide practitioners with patient-specific CFRD risk to guide CFRD monitoring and treatment.

An innovation procurement clinical framework: A qualitative study.

Innovation Procurement Strategies (IPS) strive for purchasing healthcare solutions that do not yet exist on the market and are increasingly being advocated to improve health outcomes while managing escalating healthcare costs. Due to the newness of IPS, there are limited resources available to healthcare organizations and professionals looking to engage in IPS. The purpose of this study was to develop an evidence-based clinical framework to guide healthcare organizations and professionals. Adopting a qualitative grounded theory approach, we interviewed participants with experience in innovation procurement to understand the skills, resources, and supports needed to initiate and oversee an IPS project. Using thematic design and open coding, three overarching themes emerged from the data and formed the basis of our IPS clinical framework. By describing the components, skills, and supports and resources necessary for engaging in IPS, our framework addresses the knowledge gap in healthcare organizations and professionals wishing to implement IPS.

A systems approach for institutional CBME adoption at Queen's University.

The Royal College of Physicians and Surgeons of Canada (RCPSC) has begun the transition to Competency by Design (CBD), a new curricular model for residency education that 'ensure[s] competence, but teaches for excellence'. By 2022, all Canadian specialty programs are anticipated to have completed the CBD cohort process which includes workshops facilitated by a Royal College Clinician Educator. Queen's University in Ontario, Canada, was granted approval by the RCPSC to embark upon an accelerated path to competency-based medical education (CBME) for all our postgraduate specialties. This accelerated path allowed us to take an institutional approach for CBME implementation and ensure that all specialities were part of a system-wide change. Our unique institution-wide approach to CBD is the first of its kind across Canada. From both a theoretical and practical perspective we undertook CBME using a systems approach that allowed us to build the foundations for CBME, implement the change, and plan for sustainability. This has created opportunities to bridge and connect the various programs involved in the implementation of CBME on Queen's campus. The systems approach was an essential part of our strategy to develop a community dedicated to ensuring a successful CBME implementation.

Developing Academic Advisors and Competence Committees members: A community approach to developing CBME faculty leaders.

INTRODUCTION: Implementing competency-based medical education (CBME) at the institutional level poses many challenges including having to rapidly enable faculty to be facilitators and champions of a new curriculum which utilizes feedback, coaching, and models of programmatic assessment. This study presents the necessary competencies required for Academic Advisors (AA) and Competence Committee (CC) members, as identified in the literature and as perceived by faculty members at Queen's University. METHODS: This study integrated a review of available literature (n=26) yielding competencies that were reviewed by the authors followed by an external review consisting of CBME experts (n=5). These approved competencies were used in a cross-sectional community consultation survey distributed one year before (n=83) and one year after transitioning to CBME (n=144). FINDINGS: Our newly identified competencies are a useful template for other institutions. Academic Advisor competencies focused on mentoring and coaching, whereas Competence Committee member's competencies focused on integrating assessments and institutional policies. Competency discrepancies between stakeholder groups existing before the transition had disappeared in the post-implementation sample. CONCLUSIONS: We found value in taking an active community-based approach to developing and validating faculty leader competencies sooner rather than later when transitioning to CBME. The evolution of Competence Committees members and Academic Advisors requires the investment of specialized professional development and the sustained engagement of a collaborative community with shared concerns.

CONTEXTE: La mise en œuvre d'une formation médicale fondée sur les compétences (FMFC) au niveau institutionnel pose de nombreux défis, y compris de devoir permettre au corps professoral de devenir rapidement des facilitateurs et des champions d'un nouveau cursus qui fait appel à la rétroaction, à l'accompagnement et à l'évaluation programmatique. Cette étude présente les compétences nécessaires requises pour les conseillers pédagogiques(CP) et les membres des comités des compétences (CC), tel qu'identifié dans la littérature et comme perçues par le corps professoral à l'Université Queen. MÉTHODES: Cette étude a intégré une recension des écrits disponibles (n = 26) identifiantdes compétences, qui ont été évaluéespar les auteurs, suivie d'une évaluation externe composée d'experts de la FMFC (n = 5). Ces compétences approuvées ont été utilisées dans une consultation communautaire transversale distribuée une année avant(n = 83) et une année après la transition vers la FMFC (n = 144). RÉSULTATS: Nos compétences nouvellement déterminées représentent un modèle utile pour d'autres institutions. Les compétences d'un conseiller pédagogiquesont axées sur le mentorat et l'accompagnement, alors que les compétences des membres des comités des compétences sont axées sur l'intégration des évaluations et des politiques institutionnelles. Les divergences dans les compétences entre les parties prenantes existants avant la transition avaient disparu dans l'échantillon qui a suivi la mise en œuvre. CONCLUSIONS: Nous avons jugé utile d'adopter une approche active fondée sur lacommunauté pour élaborer et valider les compétences du corps professoral en position de leadership plus tôt que tard dans la transition vers la FMFC. L'évolution des membres des comités de compétences et des conseillers pédagogiquesnécessite un investissement dans un développement professoral spécialisé et un engagement soutenu d'une communauté collaborative qui présente des préoccupations communes.

Immunoreactive trypsinogen levels in newborn screened infants with an inconclusive diagnosis of cystic fibrosis.

BACKGROUND: Newborn screening (NBS) for cystic fibrosis (CF) not only identifies infants with a diagnosis of CF, but also those with an uncertain diagnosis of cystic fibrosis (CF), i.e. CF transmembrane conductance regulator (CFTR)-related metabolic syndrome (CRMS) or CF screen positive inconclusive diagnosis (CFSPID). These infants have an uncertain long-term outcome and it is currently unclear around time of diagnosis, which infants are at higher risk of later fulfilling a CF diagnosis. In this study, we hypothesised that immunoreactive trypsinogen (IRT) levels, used in NBS as a marker of pancreatic disease and function, may reflect the degree of CFTR dysfunction in each individual and therefore would help to identify those with CRMS/CSPID who are later at risk for meeting the criteria of CF. METHODS: In this longitudinal, prospective study, infants with CRMS/CFSPID and CF were recruited and followed in 9 CF clinics (Canada and Italy). We compared NBS IRT levels between CF and CRMS/CFSPID, and between children with CRMS/CFSPID→CF and CRMS/CFSPID→CRMS/CFSPID during the period of June 2007 to April 2016. RESULTS: Ninety eight CRMS/CFSPID and 120 CF subjects were enrolled. During the study period, 14 (14.3%) CRMS/CFSPID subjects fulfilled the diagnostic criteria for CF (CRMS/CFSPID→CF), while the diagnosis remained uncertain (CRMS/CFSPID→ CRMS/CFSPID) in 84 (85.7%) subjects. Significantly higher NBS IRT concentrations (ng/ml) were present in CF than CRMS/CFPSID (median (interquartile range): 143.8 (99.8-206.2) vs. 75.0 (61.0-105.9); P < 0.0001). Infants with CRMS/CFSPID→CF (n = 14) had significantly higher NBS IRT concentrations (ng/ml) than CRMS/CFSPID→ CRMS/CFSPID (n = 83) (median (interquartile range): 108.9 (72.3-126.8) vs. 73.7(60.0-96.0); P = 0.02). CONCLUSIONS: Amongst infants who tested positive on NBS for CF, there is a gradation of elevated NBS IRT concentrations. Infants with CF have higher NBS IRT levels than CRMS/CFPSID, and higher NBS IRT concentrations were present in infants with CRMS/CFSPID→CF than CRMS/CFSPID→ CRMS/CFSPID. NBS IRT concentrations, in concert with other factors, may have the potential to predict the likelihood of CF amongst infants with CRMS/CFSPID.

Delivering on the promise of competency based medical education - an institutional approach.

The Royal College of Physicians and Surgeons of Canada (RCPSC) adopted a plan to transform, over a seven-year horizon (2014-2021), residency education across all specialties to competency-based medical education (CBME) curriculum models. The RCPSC plan recommended implementing a more responsive and accountable training model with four discrete stages of training, explicit, specialty specific entrustable professional activities, with associated milestones, and a programmatic approach to assessment across residency education. Embracing this vision, the leadership at Queen's University (in Kingston, Ontario, Canada) applied for and was granted special permission by the RCPSC to embark on an accelerated institutional path. Over a three-year period, Queen's took CBME from concept to reality through the development and implementation of a comprehensive strategic plan. This perspective paper describes Queen's University's approach of creating a shared institutional vision, outlines the process of developing a centralized CBME executive team and twenty-nine CBME program teams, and summarizes proactive measures to ensure program readiness for launch. In so doing, Queen's created a community of support and CBME expertise that reinforces shared values including fostering co-production, cultivating responsive leadership, emphasizing diffusion of innovation, and adopting a systems-based approach to transformative change.

Inconclusive diagnosis of cystic fibrosis after newborn screening.

OBJECTIVES: To prospectively study infants with an inconclusive diagnosis of cystic fibrosis (CF) identified by newborn screening (NBS; "CF screen positive, inconclusive diagnosis" [CFSPID]) for disease manifestations. METHODS: Infants with CFSPID and CF based on NBS from 8 CF centers were prospectively evaluated and monitored. Genotype, phenotype, repeat sweat test, serum trypsinogen, and microbiology data were compared between subjects with CF and CFSPID and between subjects with CFSPID who did (CFSPID→CF) and did not (CFSPID→CFSPID) fulfill the criteria for CF during the first 3 years of life. RESULTS: Eighty-two subjects with CFSPID and 80 subjects with CF were enrolled. The ratio of CFSPID to CF ranged from 1:1.4 to 1:2.9 in different centers. CFTR mutation rates did not differ between groups; 96% of subjects with CFSPID and 93% of subjects with CF had 2 mutations. Subjects with CFSPID had significantly lower NBS immunoreactive trypsinogen (median [interquartile range]:77 [61-106] vs 144 [105-199] µg/L; P < .0001) than did subjects with CF. Pseudomonas aeruginosa and Stenotrophomonas maltophilia were isolated in 12% and 5%, respectively, of subjects with CFSPID. CF was diagnosed in 9 of 82 (11%) subjects with CFSPID (genotype and abnormal sweat chloride = 3; genotype alone = 4; abnormal sweat chloride only = 2). Sweat chloride was abnormal in CFSPID→CF patients at a mean (SD) age of 21.3 (13.8) months. CFSPID→CF patients had significantly higher serial sweat chloride (P < .0001) and serum trypsinogen (P = .009) levels than did CFSPID→CFSPID patients. CONCLUSIONS: A proportion of infants with CFSPID will be diagnosed with CF within the first 3 years. These findings underscore the need for clinical monitoring, repeat sweat testing at age 2 to 3 years, and extensive genotyping.

Prospective assessment of practice pattern variations in the treatment of pediatric gastroenteritis.

OBJECTIVES: We aimed to determine whether significant variations in the use of intravenous rehydration existed among institutions, controlling for clinical variables, and to assess variations in the use of ancillary therapeutic and diagnostic modalities. METHODS: We conducted a prospective cohort study of children 3 to 48 months of age who presented to 11 emergency departments with acute gastroenteritis, using surveys, medical record reviews, and telephone follow-up evaluations. RESULTS: A total of 647 eligible children were enrolled and underwent chart review; 69% (446 of 647 children) participated in the survey, and 89% of survey participants (398 of 446 children) had complete follow-up data. Twenty-three percent (149 of 647 children) received intravenous rehydration (range: 6%-66%; P < .001) and 13% (81 of 647 children) received ondansetron (range: 0%-38%; P < .001). Children who received intravenous rehydration had lower Canadian Triage Acuity Scale scores at presentation (3.1 ± 0.5 vs 3.5 ± 0.5; P < .0001). Regression analysis revealed that the greatest predictor of intravenous rehydration was institution location (odds ratio: 3.0 [95% confidence interval: 1.8-5.0]). Children who received intravenous rehydration at the index visit were more likely to have an unscheduled follow-up health care provider visit (29% vs 19%; P = .05) and to revisit an emergency department (20% vs 9%; P = .002). CONCLUSIONS: In this cohort, intravenous rehydration and ondansetron use varied dramatically. Use of intravenous rehydration at the index visit was significantly associated with the institution providing care and was not associated with a reduction in the need for follow-up care.

Invasive aspergillosis in cystic fibrosis: a fatal case in an adolescent and review of the literature.

Invasive aspergillosis is a rare complication of cystic fibrosis. In this article, we describe a case of an adolescent with cystic fibrosis, which was well-controlled previously, colonized with Aspergillus fumigatus. The patient developed fatal disseminated aspergillosis in the absence of any preexisting risk factors after a short course of intravenous corticosteroid treatment.

Immunization rates in a Canadian juvenile corrections facility.

In Canada's judicial system there are more than 31,700 youths admitted to correctional services each year. Given the prevalence of documented medical problems and high-risk behavior in this population, it is important to assess the immunization status of adolescents admitted to juvenile detention facilities. We completed a chart review of all youth admitted to an adolescent custody facility in Kingston, Ontario, between January 2003 and October 2005. There were 234 admissions, representing a total of 148 youths between the ages of 12 and 17 years. Of the youths, 73% had incomplete immunizations according to National Advisory Committee on Immunizations. In all, 49% (73 of 148) were missing tetanus, diphtheria, and acellular pertussis immunizations; 33% (49 of 148), meningococcus; 2% (four of 148), measles, mumps, and rubella; and 37% (55 of 148), hepatitis B. Successful immunization delivery within the detention facility increased complete immunization rates from 27% to 65%. This study shows the prevalence of incomplete immunizations in this population of adolescents. Given this data, there should be a greater focus on obtaining immunization records and on consistently delivering immunizations.