Un programme de mentorat LGBTQ+ enrichit l'expérience des étudiants en médecine et des médecins mentors

Implication Statement  The Schulich School of Medicine and Dentistry LGBTQ+ mentorship program positively impacted the personal and professional experience of LGBTQ+ medical students and physician mentors. Mentorship delivered by LGBTQ+ physicians fostered a safe environment for self-expression, and provided mentees with experience-driven guidance in navigating the medical profession. We therefore recommend that all Canadian medical schools consider the longitudinal implementation of an LGBTQ+ mentorship program to support the personal and professional development of their LGBTQ+-identifying students. Énoncé des implications de la recherche Le programme de mentorat LGBTQ+ de la Faculté de médecine et de médecine dentaire Schulich a eu un impact positif sur l'expérience personnelle et professionnelle des étudiants en médecine et des médecins mentors LGBTQ+. Le mentorat offert par les médecins LGBTQ+ a aidé les étudiants LGBTQ+ à envisager un avenir positif dans la profession médicale et à trouver une communauté de confiance. Les mentors ont apprécié l’expérience d'être des modèles positifs pour les mentorés et ils ont éprouvé un sentiment d'appartenance plus fort entre collègues. Nous recommandons à toutes les facultés de médecine canadiennes de songer à mettre en place un programme de mentorat destiné à soutenir le développement personnel et professionnel des étudiants qui se définissent comme LGBTQ+

The Canadian Neuromuscular Disease Registry: Connecting Patients to National and International Research Opportunities

Introduction Patient registries serve an important role in rare disease research, particularly for the recruitment and planning of clinical trials. The Canadian Neuromuscular Disease Registry was established with the primary objective of improving the future for neuromuscular (NM) patients through the enablement and support of research into potential treatments. Methods In this report, we discuss design and utilization of the Canadian Neuromuscular Disease Registry with special reference to the paediatric cohort currently enrolled in the registry. Results As of July 25, 2017, there are 658 paediatric participants enrolled in the registry, 249 are dystrophinopathies (229 are Duchenne muscular dystrophy), 57 are myotonic dystrophy participants, 98 spinal muscular atrophy participants and 65 are limb girdle muscular dystrophy. A total of 175 patients have another NM diagnosis. The registry has facilitated 20 clinical trial inquiries, 5 mail-out survey studies and 5 other studies in the paediatric population. Discussion The strengths of the registry are discussed. The registry has proven to be an invaluable tool to NM disease research and has increased Canada’s visibility as a competitive location for the conduct of clinical trials for NM therapies

Consensus-based care recommendations for adults with myotonic dystrophy type 1

Purpose of review Myotonic dystrophy type 1 (DM1) is a severe, progressive genetic disease that affects between 1 in 3,000 and 8,000 individuals globally. No evidence-based guideline exists to inform the care of these patients, and most do not have access to multidisciplinary care centers staffed by experienced professionals, creating a clinical care deficit. Recent findings The Myotonic Dystrophy Foundation (MDF) recruited 66 international clinicians experienced in DM1 patient care to develop consensus-based care recommendations. MDF created a 2-step methodology for the project using elements of the Single Text Procedure and the Nominal Group Technique. The process generated a 4-page Quick Reference Guide and a comprehensive, 55-page document that provides clinical care recommendations for 19 discrete body systems and/or care considerations. Summary The resulting recommendations are intended to help standardize and elevate care for this patient population and reduce variability in clinical trial and study environments. Described as “one of the more variable diseases found in medicine,” myotonic dystrophy type 1 (DM1) is an autosomal dominant, triplet-repeat expansion disorder that affects somewhere between 1:3,000 and 1:8,000 individuals worldwide.1 There is a modest association between increased repeat expansion and disease severity, as evidenced by the average age of onset and overall morbidity of the condition. An expansion of over 35 repeats typically indicates an unstable and expanding mutation. An expansion of 50 repeats or higher is consistent with a diagnosis of DM1. DM1 is a multisystem and heterogeneous disease characterized by distal weakness, atrophy, and myotonia, as well as symptoms in the heart, brain, gastrointestinal tract, endocrine, and respiratory systems. Symptoms may occur at any age. The severity of the condition varies widely among affected individuals, even among members of the same family. Comprehensive evidence-based guidelines do not currently exist to guide the treatment of DM1 patients. As a result, the international patient community reports varied levels of care and care quality, and difficulty accessing care adequate to manage their symptoms, unless they have access to multidisciplinary neuromuscular clinics. Consensus-based care recommendations can help standardize and improve the quality of care received by DM1 patients and assist clinicians who may not be familiar with the significant variability, range of symptoms, and severity of the disease. Care recommendations can also improve the landscape for clinical trial success by eliminating some of the inconsistencies in patient care to allow more accurate understanding of the benefit of potential therapies

Ultrastructure of atrial and ventricular myocytes of newborn rats: evidence for the existence of specific atrial granule-like organelles in the ventricle

The present study examined the ultrastructure of atrial and ventricular myocytes from the heart of newborn rats. It was found that, despite former reports stating that ventricular myocytes in adults do not contain cytoplasmic granules, specific atrial granule-like organelles are present in the ventricles of rats at birth. The presence of these granules together with the relatively underdeveloped contractile apparatus and extensive Golgi complex suggests that the ventricular, like the atrial, myocytes may have an endocrine function before or at birth. Further study is required to determine whether these ventricular cytoplasmic granules contain the same atrial natriuretic peptide species known to be present in the atrial specific granules

Consensus-based care recommendations for adults with myotonic dystrophy type 1

International audiencePurpose of review Myotonic dystrophy type 1 (DM1) is a severe, progressive genetic disease that affects between 1 in 3,000 and 8,000 individuals globally. No evidence-based guideline exists to inform the care of these patients, and most do not have access to multidisciplinary care centers staffed by experienced professionals, creating a clinical care deficit. Recent findings The Myotonic Dystrophy Foundation (MDF) recruited 66 international clinicians experienced in DM1 patient care to develop consensus-based care recommendations. MDF created a 2-step methodology for the project using elements of the Single Text Procedure and the Nominal Group Technique. The process generated a 4-page Quick Reference Guide and a comprehensive, 55-page document that provides clinical care recommendations for 19 discrete body systems and/or care considerations. Summary The resulting recommendations are intended to help standardize and elevate care for this patient population and reduce variability in clinical trial and study environments