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The introduction of next generation sequencing (NGS) technologies has revolutionized the practice of Medical Genetics, and despite initial reticence in its application to prenatal genetics (PG), it is becoming gradually routine, subject to availability. Guidance for the clinical implementation of NGS in PG, in particular whole exome sequencing (ES), has been provided by several professional societies with multiple clinical studies quoting a wide range of testing yields. ES was introduced in our tertiary care center in 2017; however, its use in relation to prenatally assessed cases has been limited to the postnatal period. In this study, we review our approach to prenatal testing including the use of microarray (CMA), and NGS technology (gene panels, ES) over a period of three years. The overall diagnostic yield was 30.4%, with 43.2% of those diagnoses being obtained through CMA, and the majority by using NGS technology (42% through gene panels and 16.6% by ES testing, respectively). Of these, 43.4% of the diagnoses were obtained during ongoing pregnancies. Seventy percent of the abnormal pregnancies tested went undiagnosed. We are providing a contemporary, one tertiary care center retrospective view of a real-life PG practice in the context of an evolving use of NGS within a Canadian public health care system that may apply to many similar jurisdictions around the world.

Background: Of the more than 104,000 Canadians who underwent elective total joint arthroplasty (TJA) surgery in 2012-2013 for hip and knee osteoarthritis (OA), 40 and 60 %, respectively, were obese. Obesity is associated with increased risks for receiving TJA, post-operative complications and delayed functional recovery. Current guidelines for patients with a body mass index (BMI) of ≥30 kg/m(2) are to participate in a weight management programme and to lose weight prior to TJA surgery. As part of a larger project, a rapid review was conducted to examine the effects of short-term non-pharmacological and non-surgical weight loss interventions in adults in the year prior to total hip arthroplasty (THA) and total knee arthroplasty (TKA) on surgical and patient outcomes, and adverse events., Methods: We performed a rapid review and searched seven electronic databases for English language articles published between 1990 and February 2015. Observational studies evaluating the association between pre-operative weight loss and short- and long-term outcomes, and controlled trials of non-pharmacological and non-surgical weight loss interventions were considered for inclusion. Two reviewers independently screened and selected articles, assessed methodological quality and extracted data., Results: Of 263 articles identified, a total of four studies met our inclusion criteria. In one of two high-quality retrospective cohort studies, weight loss ≥5 % of body weight in the year prior to TJA and maintained in the year after surgery was associated with a higher likelihood of deep surgical site infection in THA patients and 90-day readmission in TKA patients. No significant differences were reported in incidence of superficial surgical site infections in THA or TKA patients who lost weight pre-operatively compared to those who maintained their weight in either study. Two abstracts of randomized controlled trials were included; however, despite contacting the authors, full-length articles were not available. The limited information from the trials suggested that short-term dietician-supervised weight loss interventions were effective in weight loss prior to TJA., Conclusions: There is limited evidence to support the recommendation of weight loss in the year prior to TJA and to determine the effectiveness of short-term non-pharmacological, non-surgical weight management interventions on patient and surgical outcomes.

Introduction: The present article describes educational innovation processes and design of a web-based pain interprofessional resource for prelicensure health science students in universities across Canada. Operationalization of educational theory in design coupled with formative evaluation of design are discussed, along with strategies that support collaborative innovation., Methods: Educational design was driven by content, theory and evaluation. Pain misbeliefs and teaching points along the continuum from acute to persistent pain were identified. Knowledge-building theory, situated learning, reflection and novel designs for cognitive scaffolding were then employed. Design research principles were incorporated to inform iterative and ongoing design., Results: An authentic patient case was constructed, situated in interprofessional complex care to highlight learning objectives related to pre-operative, postoperative and treatment up to one year, for a surgical cancer patient. Pain mechanisms, assessment and management framed content creation. Knowledge building scaffolds were used, which included video simulations, embedded resources, concurrent feedback, practice-based reflective exercises and commentaries. Scaffolds were refined to specifically support knowledge translation. Illustrative commentaries were designed to explicate pain misbeliefs and best practices. Architecture of the resource was mapped; a multimedia, interactive prototype was created. This pain education resource was developed primarily for individual use, with extensions for interprofessional collective discourse., Discussion: Translation of curricular content scripts into representation maps supported the collaborative design process by establishing a common visual language. The web-based prototype will be formatively and summatively evaluated to assess pedagogic design, knowledge-translation scaffolds, pain knowledge gains, relevance, feasibility and fidelity of this educational innovation.

Background: During the few years that have passed since it became available, the Strengths and Difficulties Questionnaire (SDQ) has been extensively evaluated and widely applied to assess behaviour disorders of children and adolescents in European countries. In contrast, relatively few reports have published SDQ results obtained in other parts of the world, although its briefness and availability in over 40 languages make this instrument particularly attractive for international collaborations and cross-cultural comparisons concerning clinical and epidemiological issues., Objectives: This initial overview summarises some of these non-European experiences with the SDQ by presenting a selection of projects that have either psychometrically evaluated this novel questionnaire, applied it to screen for behaviour disorders, or employed its parent-, teacher- or self-rated versions as research tools. Since a large part of the mentioned studies are ongoing or have only recently been completed, much of the work reported here is still unpublished., Conclusions: Across a huge variety of cultures and languages, experience gained with the SDQ in other continents has supported European evidence of good psychometric properties and clinical utility of this questionnaire. Since worldwide usage of the SDQ can be expected to increase in the future, more international coordination is encouraged, in order to fully exploit the promising potentials of this versatile assessment tool and systematically investigate cross-cultural differences and similarities in child and adolescent behaviour.