Assessing the feasibility, acceptability, and fidelity of a tele-retinopathy-based intervention to encourage greater attendance to diabetic retinopathy screening in immigrants living with diabetes from China and African-Caribbean countries in Ottawa, Canada: a protocol

Background: Diabetic retinopathy is a leading cause of preventable blindness in Canada. Clinical guidelines recommend annual diabetic retinopathy screening for people living with diabetes to reduce the risk and progression of vision loss. However, many Canadians with diabetes do not attend screening. Screening rates are even lower in immigrants to Canada including people from China, Africa, and the Caribbean, and these groups are also at higher risk of developing diabetes complications. We aim to assess the feasibility, acceptability, and fidelity of a co-developed, linguistically and culturally tailored tele-retinopathy screening intervention for Mandarin-speaking immigrants from China and French-speaking immigrants from African-Caribbean countries living with diabetes in Ottawa, Canada, and identify how many from each population group attend screening during the pilot period. // Methods: We will work with our health system and patient partners to conduct a 6-month feasibility pilot of a tele-retinopathy screening intervention in a Community Health Centre in Ottawa. We anticipate recruiting 50–150 patients and 5–10 health care providers involved in delivering the intervention for the pilot. Acceptability will be assessed via a Theoretical Framework of Acceptability-informed survey with patients and health care providers. To assess feasibility, we will use a Theoretical Domains Framework-informed interview guide and to assess fidelity, and we will use a survey informed by the National Institutes of Health framework from the perspective of health care providers. We will also collect patient demographics (i.e., age, gender, ethnicity, health insurance status, and immigration information), screening outcomes (i.e., patients with retinopathy identified, patients requiring specialist care), patient costs, and other intervention-related variables such as preferred language. Survey data will be descriptively analyzed and qualitative data will undergo content analysis. // Discussion: This feasibility pilot study will capture how many people living with diabetes from each group attend the diabetic retinopathy screening, costs, and implementation processes for the tele-retinopathy screening intervention. The study will indicate the practicability and suitability of the intervention in increasing screening attendance in the target population groups. The study results will inform a patient-randomized trial, provide evidence to conduct an economic evaluation of the intervention, and optimize the community-based intervention

Genetic landscape of a large cohort of Primary Ovarian Insufficiency : New genes and pathways and implications for personalized medicine

Background Primary Ovarian Insufficiency (POI), a public health problem, affects 1-3.7% of women under 40 yield-ing infertility and a shorter lifespan. Most causes are unknown. Recently, genetic causes were identified, mostly in single families. We studied an unprecedented large cohort of POI to unravel its molecular pathophysiology.Methods 375 patients with 70 families were studied using targeted (88 genes) or whole exome sequencing with pathogenic/likely-pathogenic variant selection. Mitomycin-induced chromosome breakages were studied in patients' lymphocytes if necessary. Findings A high-yield of 29.3% supports a clinical genetic diagnosis of POI. In addition, we found strong evidence of pathogenicity for nine genes not previously related to a Mendelian phenotype or POI: ELAVL2, NLRP11, CENPE, SPATA33, CCDC150, CCDC185, including DNA repair genes: C17orf53(HROB), HELQ, SWI5 yielding high chromo-somal fragility. We confirmed the causal role of BRCA2, FANCM, BNC1, ERCC6, MSH4, BMPR1A, BMPR1B, BMPR2, ESR2, CAV1, SPIDR, RCBTB1 and ATG7 previously reported in isolated patients/families. In 8.5% of cases, POI is the only symptom of a multi-organ genetic disease. New pathways were identified: NF-kB, post-translational regulation, and mitophagy (mitochondrial autophagy), providing future therapeutic targets. Three new genes have been shown to affect the age of natural menopause supporting a genetic link.Interpretation We have developed high-performance genetic diagnostic of POI, dissecting the molecular pathogene-sis of POI and enabling personalized medicine to i) prevent/cure comorbidities for tumour/cancer susceptibility genes that could affect life-expectancy (37.4% of cases), or for genetically-revealed syndromic POI (8.5% of cases), ii) predict residual ovarian reserve (60.5% of cases). Genetic diagnosis could help to identify patients who may benefit from the promising in vitro activation-IVA technique in the near future, greatly improving its success in treating infertility.Funding Universite? Paris Saclay, Agence Nationale de Biome?decine.Copyright (c) 2022 The Author(s). Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/)Peer reviewe

Le musée, un lieu éducatif

This anthology contains essays on various aspects of museum education, by 35 members of the Special Interest Group on Education and Museums (SIGEM). Originally presented at a conference held in Montreal in 1995, the essays in this book address a wide range of issues related to the educational function of museums. Topics discussed include: educational, scientific and museological research; the value of guided tours and visual arts workshops; the question of evaluation; and relationships between museums and schools. 21 diagrams and 19 charts. 4 texts in English 31 texts in French. Circa 480 bibl. ref

Contemporary management of diabetic retinopathy in Canada: From guidelines to algorithm guidance

Recent advances in the therapeutic options and approaches for diabetic retinopathy (DR) and diabetic macular edema (DME) have resulted in improved visual outcomes for many patients with diabetes. Yet, they have also created many clinical dilemmas for treating ophthalmologists and retina specialists, including treatment selection, initiation, frequency and duration. With this in mind, a panel of Canadian retina specialists met and discussed the current clinical evidence as well as specific situations and scenarios commonly encountered in daily practice. They also shared their experiences and therapeutic approaches. This document, containing a consensus on treatment algorithms for various clinical scenarios, is the result of their lengthy and in-depth discussions and considerations. The intent is to provide a step-by-step approach to the treatment of DR and DME. Although clinicians are encouraged to use and refer to these algorithms as a guide for various situations, they are not meant to be a replacement for sound clinical judgment. © 2013 S. Karger AG, Basel.Link_to_subscribed_fulltex