scholarly journals The Canadian Neuromuscular Disease Registry 2010–2019: A Decade of Facilitating Clinical Research Througha Nationwide, Pan-NeuromuscularDisease Registry

2021 ◽  
Vol 8 (1) ◽  
pp. 53-61 ◽  
Author(s):  
V. Hodgkinson ◽  
J. Lounsberry ◽  
S. M’Dahoma ◽  
A. Russell ◽  
G. Jewett ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Neuromuscular Disease ◽  
Muscular Atrophy ◽  
Disease Diagnosis ◽  
Disease Registry ◽  
Prospective Data ◽  
For Profit ◽  
Not For Profit ◽  
Recruitment Activities ◽  
All Diseases

We report the recruitment activities and outcomes of a multi-disease neuromuscular patient registry in Canada. The Canadian Neuromuscular Disease Registry (CNDR) registers individuals across Canada with a confirmed diagnosis of a neuromuscular disease. Diagnosis and contact information are collected across all diseases and detailed prospective data is collected for 5 specific diseases: Amyotrophic Lateral Sclerosis (ALS), Duchenne Muscular Dystrophy (DMD), Myotonic Dystrophy (DM), Limb Girdle Muscular Dystrophy (LGMD), and Spinal Muscular Atrophy (SMA). Since 2010, the CNDR has registered 4306 patients (1154 pediatric and 3148 adult) with 91 different neuromuscular diagnoses and has facilitated 125 projects (73 academic, 3 not-for-profit, 3 government, and 46 commercial) using registry data. In conclusion, the CNDR is an effective and productive pan-neuromuscular registry that has successfully facilitated a substantial number of studies over the past 10 years.

scholarly journals Genotype–Phenotype Correlations in Duchenne and Becker Muscular Dystrophy Patients from the Canadian Neuromuscular Disease Registry

2020 ◽  
Vol 10 (4) ◽  
pp. 241
Author(s):  
Kenji Rowel Q. Lim ◽  
Quynh Nguyen ◽  
Toshifumi Yokota
Keyword(s):  
Muscular Dystrophy ◽  
Neuromuscular Disease ◽  
Becker Muscular Dystrophy ◽  
Neuromuscular Disorder ◽  
Test Results ◽  
Disease Registry ◽  
Reading Frame ◽  
Negative Results ◽  
Genetic Test Results ◽  
Dmd Gene

Duchenne muscular dystrophy (DMD) is a fatal neuromuscular disorder generally caused by out-of-frame mutations in the DMD gene. In contrast, in-frame mutations usually give rise to the milder Becker muscular dystrophy (BMD). However, this reading frame rule does not always hold true. Therefore, an understanding of the relationships between genotype and phenotype is important for informing diagnosis and disease management, as well as the development of genetic therapies. Here, we evaluated genotype–phenotype correlations in DMD and BMD patients enrolled in the Canadian Neuromuscular Disease Registry from 2012 to 2019. Data from 342 DMD and 60 BMD patients with genetic test results were analyzed. The majority of patients had deletions (71%), followed by small mutations (17%) and duplications (10%); 2% had negative results. Two deletion hotspots were identified, exons 3–20 and exons 45–55, harboring 86% of deletions. Exceptions to the reading frame rule were found in 13% of patients with deletions. Surprisingly, C-terminal domain mutations were associated with decreased wheelchair use and increased forced vital capacity. Dp116 and Dp71 mutations were also linked with decreased wheelchair use, while Dp140 mutations significantly predicted cardiomyopathy. Finally, we found that 12.3% and 7% of DMD patients in the registry could be treated with FDA-approved exon 51- and 53-skipping therapies, respectively.

The Development of Not-For-Profit Hospital Cost Models

1988 ◽  
Vol 6 (1) ◽  
pp. 35-48
Author(s):  
Greg M. Thibadoux ◽  
Nicholas Apostolou ◽  
Ira S. Greenberg
Keyword(s):  
Hospital Cost ◽  
Cost Models ◽  
For Profit ◽  
Not For Profit

10. Designing an online curriculum supporting risk management and patient safety

2007 ◽  
Vol 30 (4) ◽  
pp. 33
Author(s):  
T. Gondocz ◽  
G. Wallace
Keyword(s):  
Risk Management ◽  
Medical Education ◽  
Patient Safety ◽  
Online Learning ◽  
Online Courses ◽  
Learning System ◽  
Online Curriculum ◽  
For Profit ◽  
Not For Profit ◽  
Managing Risk

The Canadian Medical Protective Association (CMPA) is a not for profit mutual defence organization with a mandate to provide medico-legal assistance to physician members and to educate health professionals on managing risk and enhancing patient safety. To expand the outreach to its 72,000 member physicians, the CMPA built an online learning curriculum of risk management and patient safety materials in 2006. These activities are mapped to the real needs of members ensuring the activities are relevant. Eight major categories were developed containing both online courses and articles. Each course and article is mapped to the RCPSC's CanMEDS roles and the CFPC's Four Principles. This poster shares the CMPA’s experience in designing an online patient safety curriculum within the context of medico-legal risk management and provides an inventory of materials linked to the CanMEDS roles. Our formula for creation of an online curriculum included basing the educational content on real needs of member physicians; using case studies to teach concepts; and, monitoring and evaluating process and outcomes. The objectives are to explain the benefits of curricular approach for course planning across the continuum in medical education; outline the utility of the CanMEDS roles in organizing the risk management and patient safety medical education curriculum; describe the progress of CMPA's online learning system; and, outline the potential for moving the curriculum of online learning materials and resources into medical schools.

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