A5069118502- Genetic Neurodegenerative Diseases
- Muscle Physiology and Disorders
- Ion channel regulation and function
- Cardiomyopathy and Myosin Studies
- Neurogenetic and Muscular Disorders Research
- Innovations in Medical Education
- Amyotrophic Lateral Sclerosis Research
- Clinical Reasoning and Diagnostic Skills
- Lysosomal Storage Disorders Research
- Glycogen Storage Diseases and Myoclonus
- Pain Mechanisms and Treatments
- Botulinum Toxin and Related Neurological Disorders
- Receptor Mechanisms and Signaling
- Neurology and Historical Studies
- Hereditary Neurological Disorders
- Connective tissue disorders research
- RNA modifications and cancer
- Cardiovascular Effects of Exercise
- Neuroscience and Neuropharmacology Research
- Empathy and Medical Education
- Cerebral Palsy and Movement Disorders
- Hormonal Regulation and Hypertension
- Neurological disorders and treatments
- Muscle activation and electromyography studies
- Adolescent and Pediatric Healthcare
Western University
2011-2023
Deleted Institution
2021
Montreal Neurological Institute and Hospital
2019
London Health Sciences Centre
2006-2017
Cognitive Neuroimaging Lab
2015
E Ink (South Korea)
2015
Alberta Bible College
2015
Canadian Respiratory Research Network
2013
University of Rochester
2004-2012
University of Milan
2012
Facioscapulohumeral muscular dystrophy (FSHD), caused by partial deletion of the D4Z4 macrosatellite repeat on chromosome 4q, has a complex genetic and epigenetic etiology. To develop FSHD, contraction needs to occur specific background. Only contractions associated with 4qA161 haplotype cause FSHD. In addition, in FSHD patients is significant hypomethylation. date, however, methylation status contracted repeats nonpathogenic haplotypes not been studied. We have performed detailed study 4q...
In some 5% of patients with facioscapulohumeral muscular dystrophy (FSHD), no D4Z4 repeat contraction on chromosome 4q35 is observed. Such patients, termed FSHD2, show loss DNA methylation and heterochromatin markers at the that are similar to contractions (FSHD1). This commonality suggests a change in chromatin structure unifies FSHD1 FSHD2. The aim our study was critically evaluate clinical features FSHD2 order establish whether these phenotypically identical effects (epi-) genotype phenotype.
Facioscapulohumeral muscular dystrophy (FSHD) is caused by deletions within a tandem array of D4Z4 repeats on chromosome 4q35. In addition to muscle degeneration, most patients with FSHD develop abnormalities the retinal vasculature. Previous work has suggested that degeneration in results from increased expression genes proximal deletion, including FRG1.To reexamine this mechanism and identify pathways are abnormally regulated early disease process.We prospectively studied gene skeletal (n...
Non-dystrophic myotonias are rare diseases caused by mutations in skeletal muscle chloride and sodium ion channels with considerable phenotypic overlap between diseases. Few prospective studies have evaluated the sensitivity of symptoms signs myotonia a large cohort patients. We performed observational study 95 participants definite or clinically suspected non-dystrophic recruited from six sites USA, UK Canada March 2006 2009. used common infrastructure data elements provided NIH-funded Rare...
Purpose Novel approaches are required to meet assessment demands and cultivate authentic feedback in competency-based medical education. One potential source of data help these is the electronic health record (EHR). However, literature offers limited guidance regarding how EHR could be used support workplace teaching learning. Furthermore, given its sheer volume availability, there exists a risk exploiting educational data. This qualitative study examined might effectively integrated...
<h3>Objective</h3> There is no consensus on which treatment should be used preferentially in individual patients with chronic inflammatory demyelinating polyneuropathy (CIDP). Patients unlikely to respond intravenous immunoglobulin (IVIg) could prescribed corticosteroids first avoid high cost and a delayed response. We investigated factors determined response IVIg. <h3>Methods</h3> Treatment-naïve CIDP initially treated at least one full course of IVIg (2 g/kg) two neuromuscular disease...
Abstract Introduction : Non‐dystrophic myotonia (NDM) is caused by mutations in muscle chloride and sodium channels. Currently, there no standardized instrument for documenting symptom frequency severity NDM. Methods Subjects used an automated, interactive, telephone‐based voice response diary (IVR) to record of stiffness, weakness, pain, tiredness once a week 8 weeks, after their baseline visits. Results We describe the IVR report data on 76 subjects total 385 person‐weeks. Overall were 5.1...
Curriculum renewal is an essential and continual process for undergraduate medical education programmes. Although there substantial literature on the critical role of leadership in successful curricular change, voices frontline faculty teachers implementing such change have not been explored. We aimed only to examine understand perceptions members as they face curriculum but also explore influences their engagement with change.We used a constructivist grounded approach this exploratory...
Rat vascular smooth muscle cells were synchronized to the quiescent state (G0) by serum deprivation and then stimulated enter cell cycle refeeding. At various times of cycle, analyzed for expression p34cdc2 mitogen-activated protein kinase homologues immunoblotting activity toward histone H1, myelin basic protein, caldesmon. A small amount was expressed in G0/G1 phase (0 8 hours). G1/S transition (12 hours), level started accumulate increased 60-fold at G2/M (18 accompanied a more slowly...
Myotonic dystrophy presents with multisystemic complications, and there is a well-recognized myotonic personality profile that characterized by executive dysfunction, an avoidant personality, impaired cognition. Understanding symptom impact on patients' lives crucial for providing appropriate patient-centered care; however, much of the literature reflects biomedical model, paucity articles exploring patient experience.The aim this study was to use novel research approach explore experiences...
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 confirmed diagnosis disease. Diagnosis contact information are collected all diseases detailed prospective data is for 5 specific diseases: Amyotrophic Lateral Sclerosis (ALS), Duchenne Muscular Dystrophy (DMD), Myotonic (DM), Limb Girdle (LGMD), Spinal Atrophy (SMA). Since 2010, CNDR has...
Patient registries represent an important method of organizing "real world" patient information for clinical and research purposes. Registries can facilitate trial planning recruitment are particularly useful in this regard uncommon rare diseases. Neuromuscular diseases (NMDs) individually but aggregate have a significant prevalence. In Canada, on NMDs is lacking. Barriers to performing Canadian multicentre NMD exist which be overcome by comprehensive collaborative registry.We describe the...
Myotonic dystrophy (DM1), a genetic, multisystemic disorder, is the most prevalent adult form of muscular dystrophy. Dysphagia common symptom that may be difficult to diagnose and treat can associated with increased morbidity mortality. Preexisting cognitive impairment or apathy, both well described in DM1 literature, contribute management challenges. Caregivers become important for managing family member's swallowing dysfunction. Although clinicians place great importance on difficulties,...
Implication Statement 
 The Schulich School of Medicine and Dentistry LGBTQ+ mentorship program positively impacted the personal professional experience medical students physician mentors. Mentorship delivered by physicians fostered a safe environment for self-expression, provided mentees with experience-driven guidance in navigating profession. We therefore recommend that all Canadian schools consider longitudinal implementation an to support development their LGBTQ+-identifying students.
Non-dystrophic myotonia (NDM) is characterized by without muscle wasting. A standardized quantitative assessment (QMA) important for clinical trials.Myotonia was assessed in 91 individuals enrolled a natural history study using commercially available computerized handgrip myometer and automated software. Average peak force 90% to 5% relaxation times were compared with historical normal controls studied identical methods.Thirty subjects had chloride channel mutations, 31 sodium 6 DM2 24 no...
Abstract Background: Myotonic dystrophy (DM1) is an autosomal dominant, progressive, and multisystem condition that impacts affected individuals physically, socially, emotionally. Understanding individuals’ perceptions of their disease critical to ensuring appropriate information, education, counseling. Methods: We conducted a content analysis findings from larger study used novel, qualitative research approach called photovoice explore nine patients’ experiences living with DM1....
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 primary objective improving future neuromuscular (NM) patients through enablement support research into potential treatments.In this report, we discuss design utilization special reference to paediatric cohort currently enrolled registry.As July 25, 2017, there are 658 participants registry, 249...