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Western University

2018

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Articles 31 - 60 of 434

Full-Text Articles in Medicine and Health Sciences

Consensus-Based Care Recommendations For Adults With Myotonic Dystrophy Type 1., Tetsuo Ashizawa, Cynthia Gagnon, William J Groh, Laurie Gutmann, Nicholas E Johnson, Giovanni Meola, Richard Moxley, Shree Pandya, Mark T Rogers, Ericka Simpson, Nathalie Angeard, Guillaume Bassez, Kiera N Berggren, Deepak Bhakta, Marco Bozzali, Ann Broderick, Janice L B Byrne, Craig Campbell, Edith Cup, John W Day, Elisa De Mattia, Denis Duboc, Tina Duong, Katy Eichinger, Anne-Berit Ekstrom, Baziel Van Engelen, Belen Esparis, Bruno Eymard, Marla Ferschl, Shahinaz M Gadalla, Benjamin Gallais, Todd Goodglick, Chad Heatwole, James Hilbert, Venessa Holland, Marie Kierkegaard, Wilma J Koopman, Kari Lane, Daphne Maas, Ami Mankodi, Katherine D Mathews, Darren G Monckton, David Moser, Saman Nazarian, Linda Nguyen, Peg Nopoulos, Richard Petty, Janel Phetteplace, Jack Puymirat, Subha Raman, Louis Richer, Elisabetta Roma, Jacinda Sampson, Valeria Sansone, Benedikt Schoser, Laurie Sterling, Jeffrey Statland, S H Subramony, Cuixia Tian, Careniña Trujillo, Gordon Tomaselli, Chris Turner, Shannon Venance, Aparajitha Verma, Molly White, Stefan Winblad Dec 2018

Consensus-Based Care Recommendations For Adults With Myotonic Dystrophy Type 1., Tetsuo Ashizawa, Cynthia Gagnon, William J Groh, Laurie Gutmann, Nicholas E Johnson, Giovanni Meola, Richard Moxley, Shree Pandya, Mark T Rogers, Ericka Simpson, Nathalie Angeard, Guillaume Bassez, Kiera N Berggren, Deepak Bhakta, Marco Bozzali, Ann Broderick, Janice L B Byrne, Craig Campbell, Edith Cup, John W Day, Elisa De Mattia, Denis Duboc, Tina Duong, Katy Eichinger, Anne-Berit Ekstrom, Baziel Van Engelen, Belen Esparis, Bruno Eymard, Marla Ferschl, Shahinaz M Gadalla, Benjamin Gallais, Todd Goodglick, Chad Heatwole, James Hilbert, Venessa Holland, Marie Kierkegaard, Wilma J Koopman, Kari Lane, Daphne Maas, Ami Mankodi, Katherine D Mathews, Darren G Monckton, David Moser, Saman Nazarian, Linda Nguyen, Peg Nopoulos, Richard Petty, Janel Phetteplace, Jack Puymirat, Subha Raman, Louis Richer, Elisabetta Roma, Jacinda Sampson, Valeria Sansone, Benedikt Schoser, Laurie Sterling, Jeffrey Statland, S H Subramony, Cuixia Tian, Careniña Trujillo, Gordon Tomaselli, Chris Turner, Shannon Venance, Aparajitha Verma, Molly White, Stefan Winblad

Paediatrics Publications

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 …


Phenytoin Activates Smad3 Phosphorylation And Periostin Expression In Drug-Induced Gingival Enlargement., Shawna S Kim, Georgia Nikoloudaki, Mark Darling, Michael J Rieder, Douglas W Hamilton Dec 2018

Phenytoin Activates Smad3 Phosphorylation And Periostin Expression In Drug-Induced Gingival Enlargement., Shawna S Kim, Georgia Nikoloudaki, Mark Darling, Michael J Rieder, Douglas W Hamilton

Paediatrics Publications

Drug-induced gingival enlargement (DIGE) is a fibrotic condition associated with systemic administration of the anti-epileptic drug, phenytoin. We have previously demonstrated that periostin, which is transforming growth factor-beta (TGF-β) inducible gene, is upregulated in various fibrotic conditions including gingival enlargement associated with nifedipine. The objective of this study was to assess periostin expression in phenytoin-induced gingival enlargement (PIGE) tissues and to investigate the mechanisms underlying periostin expression. Human PIGE tissues were assessed using Masson's trichrome, with cell infiltration and changes in extracellular matrix composition characterized through labeling with antibodies to periostin, phospho-SMAD 3, TGF-β, as well as the macrophage markers …


"Integrated Science 3002a: Big Bike Giveaway: Changing London's Environment, Health, And Economy One Bike At A Time", Jermiah Joseph, Katelyn Melo, Devanshi Shukla, Tony Nguyen, Katherine Teeter Dec 2018

"Integrated Science 3002a: Big Bike Giveaway: Changing London's Environment, Health, And Economy One Bike At A Time", Jermiah Joseph, Katelyn Melo, Devanshi Shukla, Tony Nguyen, Katherine Teeter

Community Engaged Learning Final Projects

There are significant benefits that manifest when an individual chooses to ride a bicycle as their primary mode of transportation. To investigate these benefits, the environmental, health, economic, and social impacts of biking were evaluated through research and data analyses. This revealed that numerous advantages can be obtained at an individual and local scale through citizens choosing to adopt a biking lifestyle. However, it was found that many Londoners are deterred from biking due to poor biking infrastructure. This paper calls into question the current cycling framework in London and it’s limitations on achieving the numerous benefits that biking offers. …


Survival Of Patients With Subglottic Squamous Cell Carcinoma, S D. Macneil, K Patel, K Liu, S Shariff, J Yoo, A Nichols, K Fung, A X Garg Dec 2018

Survival Of Patients With Subglottic Squamous Cell Carcinoma, S D. Macneil, K Patel, K Liu, S Shariff, J Yoo, A Nichols, K Fung, A X Garg

Anatomy and Cell Biology Publications

Objective: Subglottic squamous cell carcinoma is a rare subsite of laryngeal cancer that behaves more aggressively and portends a worse prognosis. Using a population-based cancer registry, our objective was to report overall survival (OS) and laryngectomy-free survival (LFS) in patients diagnosed with subglottic squamous cell carcinoma, and to determine whether primary laryngectomy results in improved survival.

Methods: This retrospective population-based study considered patients with a new diagnosis of squamous cell carcinoma in the province of Ontario over a 15-year period (1995-2009). The Ontario Cancer Registry was examined for patients with the diagnosis of interest during the period …


Dried Blood Spot Technique-Based Liquid Chromatography-Tandem Mass Spectrometry Method As A Simple Alternative For Benznidazole Pharmacokinetic Assessment, Danilo César Galindo Bedor, Noely Camila Tavares Cavalcanti Bedor, José Wellithom Viturino Da Silva, Giovana Damasceno Sousa, Davi Pereira De Santana, Facundo Garcia-Bournissen, Jaime Altcheh, Bethania Blum, Fabiana Alves, Isabela Ribeiro Dec 2018

Dried Blood Spot Technique-Based Liquid Chromatography-Tandem Mass Spectrometry Method As A Simple Alternative For Benznidazole Pharmacokinetic Assessment, Danilo César Galindo Bedor, Noely Camila Tavares Cavalcanti Bedor, José Wellithom Viturino Da Silva, Giovana Damasceno Sousa, Davi Pereira De Santana, Facundo Garcia-Bournissen, Jaime Altcheh, Bethania Blum, Fabiana Alves, Isabela Ribeiro

Paediatrics Publications

Chagas disease (CD) is recognized as one of the major neglected global tropical diseases. Benznidazole (BNZ) is the drug of choice for the treatment of adults, young infants, and newborns with CD. However, the pharmacokinetics (PK) of BNZ have been poorly evaluated in all age groups, with consequent gaps in knowledge about PK-pharmacodynamic relationships in CD. The purpose of this study was to develop and validate a bioanalytical method to quantify BNZ levels in small-volume whole-blood samples collected as dried blood spots (DBS). The analysis was performed using high-performance liquid chromatography-positive electrospray tandem mass spectrometry. PK evaluation in healthy male …


Algorithms For Left Atrial Wall Segmentation And Thickness – Evaluation On An Open-Source Ct And Mri Image Database, Rashed Karim, Lauren Emma Blake, Jiro Inoue, Qian Tao, Shuman Jia, R. James Housden, Pranav Bhagirath, Jean Luc Duval, Marta Varela, Jonathan Behar, Loic Cadour, Rob J. Van Der Geest, Hubert Cochet, Maria Drangova, Maxime Sermesant, Reza Razavi, Oleg Aslanidi, Ronak Rajani, Kawal Rhode Dec 2018

Algorithms For Left Atrial Wall Segmentation And Thickness – Evaluation On An Open-Source Ct And Mri Image Database, Rashed Karim, Lauren Emma Blake, Jiro Inoue, Qian Tao, Shuman Jia, R. James Housden, Pranav Bhagirath, Jean Luc Duval, Marta Varela, Jonathan Behar, Loic Cadour, Rob J. Van Der Geest, Hubert Cochet, Maria Drangova, Maxime Sermesant, Reza Razavi, Oleg Aslanidi, Ronak Rajani, Kawal Rhode

Bone and Joint Institute

© 2018 The Authors Structural changes to the wall of the left atrium are known to occur with conditions that predispose to Atrial fibrillation. Imaging studies have demonstrated that these changes may be detected non-invasively. An important indicator of this structural change is the wall's thickness. Present studies have commonly measured the wall thickness at few discrete locations. Dense measurements with computer algorithms may be possible on cardiac scans of Computed Tomography (CT) and Magnetic Resonance Imaging (MRI). The task is challenging as the atrial wall is a thin tissue and the imaging resolution is a limiting factor. It is …


Working Towards The Promise Of Participatory Action Research: Learning From Ageing Research Exemplars, Colleen E. Mcgrath Dec 2018

Working Towards The Promise Of Participatory Action Research: Learning From Ageing Research Exemplars, Colleen E. Mcgrath

Occupational Therapy Publications

Within research addressing issues of social justice, there is a growing uptake of participatory action research (PAR) approaches that are ideally committed to equitable participation of community members in all phases of the research process in order to collaboratively enact social transformation. However, the utilization of such approaches has not always matched the ideal, with inconsistencies in how participation and action are incorporated. “Participation” within various research processes is displayed differently, with the involvement of community members varying from full participation to their involvement as simply participants for data collection. Similarly, “action” is varyingly enacted from researchers proposing research implications …


Ciliary Parathyroid Hormone Signaling Activates Transforming Growth Factor-Β To Maintain Intervertebral Disc Homeostasis During Aging, Liwei Zheng, Yong Cao, Shuangfei Ni, Huabin Qi, Zemin Ling, Xin Xu, Xuenong Zou, Tianding Wu, Ruoxian Deng, Bo Hu, Bo Gao, Hao Chen, Yusheng Li, Jianxi Zhu, Francis Tintani, Shadpour Demehri, Amit Jain, Khaled M. Kebaish, Shenghui Liao, Cheryle A. Séguin, Janet L. Crane, Mei Wan, Hongbin Lu, Paul D. Sponseller, Lee H. Riley, Xuedong Zhou, Jianzhong Hu, Xu Cao Dec 2018

Ciliary Parathyroid Hormone Signaling Activates Transforming Growth Factor-Β To Maintain Intervertebral Disc Homeostasis During Aging, Liwei Zheng, Yong Cao, Shuangfei Ni, Huabin Qi, Zemin Ling, Xin Xu, Xuenong Zou, Tianding Wu, Ruoxian Deng, Bo Hu, Bo Gao, Hao Chen, Yusheng Li, Jianxi Zhu, Francis Tintani, Shadpour Demehri, Amit Jain, Khaled M. Kebaish, Shenghui Liao, Cheryle A. Séguin, Janet L. Crane, Mei Wan, Hongbin Lu, Paul D. Sponseller, Lee H. Riley, Xuedong Zhou, Jianzhong Hu, Xu Cao

Bone and Joint Institute

© 2018 The Author(s). Degenerative disc disease (DDD) is associated with intervertebral disc degeneration of spinal instability. Here, we report that the cilia of nucleus pulposus (NP) cells mediate mechanotransduction to maintain anabolic activity in the discs. We found that mechanical stress promotes transport of parathyroid hormone 1 receptor (PTH1R) to the cilia and enhances parathyroid hormone (PTH) signaling in NP cells. PTH induces transcription of integrin αvβ6 to activate the transforming growth factor (TGF)-β-connective tissue growth factor (CCN2)-matrix proteins signaling cascade. Intermittent injection of PTH (iPTH) effectively attenuates disc degeneration of aged mice by direct signaling through NP cells, …


Healthy And Happy: Creating And Evaluating A Catalyst To Improve The Health Of University Students Via An Online Training System, Gillian E. Mandich Nov 2018

Healthy And Happy: Creating And Evaluating A Catalyst To Improve The Health Of University Students Via An Online Training System, Gillian E. Mandich

Electronic Thesis and Dissertation Repository

Increasingly, university students are facing unique, significant physical and mental health challenges. Additionally, they are spending more and more of their time online and are using online platforms to access mental health resources; consequently, there is a timely opportunity to explore the potential of online happiness interventions, specifically with video, to improve happiness among university students. Evidence suggests that improved happiness relates to improved physical health, mental health, and academic outcomes.

The purpose of this research was to test if an online happiness intervention, using videos to boost happiness, can increase self-reported happiness among university students. The primary outcome was …


In Vivo Tracking Of Tumour Associated Macrophages In Breast Cancer With Magnetic Resonance Imaging, Ashley V. Makela Nov 2018

In Vivo Tracking Of Tumour Associated Macrophages In Breast Cancer With Magnetic Resonance Imaging, Ashley V. Makela

Electronic Thesis and Dissertation Repository

Introduction: The environment in which a tumour exists and functions is called the tumour microenvironment (TME). In breast cancer, the presence of tumour associated macrophages (TAMs) in the TME is associated with tumour aggressiveness and poor outcomes. Despite evidence for a link between TAM content and outcome, there are few strategies to measure TAMs and no in vivo approach. Iron or fluorine-19 (19F)-based MRI can be used to detect macrophages post intravenous injection of either an iron or perfluorocarbon (PFC) agent. Iron-based MRI is sensitive but difficult to quantify. 19F MRI is specific and signal is proportional …


Cognitive Impairment And The Mediterranean Diet: A Canadian Perspective, Ivan Culum Nov 2018

Cognitive Impairment And The Mediterranean Diet: A Canadian Perspective, Ivan Culum

Electronic Thesis and Dissertation Repository

Global life expectancy has increased steadily over the past century and is projected to continue increasing. Life expectancy increases are co-occurring with a reduction of fertility rates in many economically developed countries, which is resulting in an aging population, meaning that the proportion of older adults within the total world population will continue to increase. This is of particular concern as there is a rise of chronic neurodegenerative diseases among older adults, such as dementia, where the number of global deaths more than doubled since the turn of the century, making dementia the fifth leading cause of death worldwide. Dementia …


Choice Of Implant Filler In Breast Reconstruction: A Study Of The Cost-Effectiveness Of Saline And Silicone Implants, Kathleen Nelligan Nov 2018

Choice Of Implant Filler In Breast Reconstruction: A Study Of The Cost-Effectiveness Of Saline And Silicone Implants, Kathleen Nelligan

Electronic Thesis and Dissertation Repository

Breast reconstruction following mastectomy is increasing and implant-based breast reconstruction is the most common surgical approach. Saline and silicone implants have different cost and complication profiles and it is unclear which is the more cost-effective option. A systematic review of the literature was undertaken to summarize the quality of life data in breast reconstruction, specifically, previously published health state utility values relevant to breast reconstruction. In addition, a cost-utility analysis was undertaken from the perspective of the third-party payer, accounting for the most common complications associated with saline and silicone implants. This demonstrated that despite the increased initial cost of …


Aggregate Morbidity And Mortality Of Defunctioning Loop Ileostomy Fro Formation To Closure: A Large Population Retrospective Cohort Analysis, Mei Yang Nov 2018

Aggregate Morbidity And Mortality Of Defunctioning Loop Ileostomy Fro Formation To Closure: A Large Population Retrospective Cohort Analysis, Mei Yang

Electronic Thesis and Dissertation Repository

There is evidence that defunctioning loop ileostomies (DLIs) are associated with decreased risk of clinically significant anastomotic leaks, but at what cost? This population-based retrospective cohort study used administrative data to investigate differences in outcomes between patients undergoing low anterior resection with and without DLIs. We included all adult patients undergoing low anterior resection from 2002 to 2014 and identified outcomes within 30-days to 2-year of the index surgery. Outcomes included hospital readmission, reoperation, major complications, mortality, bleeding, and ileostomy reversal. DLIs were associated with significantly worse outcomes after low anterior resection, including increased risk of major complication, acute kidney …


Tibiotalar Arthrodesis: Development Of A Novel Jig And Alignment Guide, Adam Mathew Ropchan Nov 2018

Tibiotalar Arthrodesis: Development Of A Novel Jig And Alignment Guide, Adam Mathew Ropchan

Electronic Thesis and Dissertation Repository

Tibiotalar arthrodesis is a surgical procedure, used for the treatment of end-stage ankle arthrosis and instability. There are dozens of described procedures in the literature, all with varying rates of success. Two of the most common reasons for reoperation in tibiotalar arthrodesis are nonunion and infection; few studies have established any associations between patient/surgical factors and reoperation for nonunion and infection.

The first part of this thesis focuses on determining the rate of reoperation to the ipsilateral lower limb and if any patient/surgical factors are associated with reoperation for nonunion and infection. The second part of this thesis turns attention …


Diagnostic Ultrasound In The Measurement Of Cortical Bone Thickness In Porcine Mandibular Specimens, Diego Diaz Guerrero Nov 2018

Diagnostic Ultrasound In The Measurement Of Cortical Bone Thickness In Porcine Mandibular Specimens, Diego Diaz Guerrero

Electronic Thesis and Dissertation Repository

Introduction: Ultrasound (US) is a safe, non-invasive diagnostic method that has been used in various capacities in medicine and dentistry. Periodontal bone loss, bony dehiscence, and gingival recession have been reported as potential risks of orthodontic treatment in patients who have decreased buccal/labial bone thickness. US has the potential to aid in the diagnosis of patients at risk for these possible complications of orthodontic treatment. Purpose: To validate the use of a novel US device in the measurement of buccal cortical bone (BCB) thickness over roots in porcine mandibles. Materials and Methods: Jaw and cortical bone models were constructed and …


Medial Geniculate Projections To Auditory And Visual Cortex In Hearing And Deaf Cats, Benjamin Trachtenberg Nov 2018

Medial Geniculate Projections To Auditory And Visual Cortex In Hearing And Deaf Cats, Benjamin Trachtenberg

Electronic Thesis and Dissertation Repository

Following early-onset deafness, studies have demonstrated crossmodal plasticity, throughout “deaf” auditory cortex. Crossmodally reorganized auditory cortex shows increased dendritic spine density, which suggests increased numbers of axon terminals. I examined projections from the medial geniculate body (MGB) of hearing and early-deaf cats in order to reveal the distribution of synaptic boutons in the cortex, originating from MGB neurons. Anterograde fluorescent dextran tracers were deposited bilaterally in the MGB in order to label cortical axon terminals. Deafness resulted in axon terminal increases in visual cortex, and conservation of auditory axon terminal distribution. Visual areas PLLS and area 18 received increased projections …


Prognostic Predictive Model To Estimate The Risk Of Multiple Chronic Diseases: Constructing Copulas Using Electronic Medical Record Data, Jason E. Black Nov 2018

Prognostic Predictive Model To Estimate The Risk Of Multiple Chronic Diseases: Constructing Copulas Using Electronic Medical Record Data, Jason E. Black

Electronic Thesis and Dissertation Repository

Introduction: Multimorbidity, the presence of two or more chronic diseases in an individual, is a pressing medical condition. Novel prevention methods are required to reduce the incidence of multimorbidity. Prognostic predictive models estimate a patient’s risk of developing chronic disease. This thesis developed a single predictive model for three diseases associated with multimorbidity: diabetes, hypertension, and osteoarthritis.

Methods: Univariate logistic regression models were constructed, followed by an analysis of the dependence that existed using copulas. All analyses were based on data from the Canadian Primary Care Sentinel Surveillance Network.

Results: All univariate models were highly predictive, as demonstrated by their …


Evaluating The Conservation Of Rna Packaging Enhancer Elements Across Lentiviruses, Seyed Arad Moghadasi Nov 2018

Evaluating The Conservation Of Rna Packaging Enhancer Elements Across Lentiviruses, Seyed Arad Moghadasi

Electronic Thesis and Dissertation Repository

It was previously thought that the RNA structural elements within the 5’UTR were the sole determinants of RNA packaging in HIV-1. However, in 2013 Chamanian et al. discovered that the region overlapping the Ribosomal Frameshift Signal (RFS) acted to enhance RNA packaging 50 fold and was thus named the genomic RNA packaging enhancer element (GRPE). To determine if the GRPE was conserved across lentiviruses, using the same approach as Chamanian et al., deletions in similar regions of the SIVmac239 and FIV 34TF10 genomes were done to measure their impact on RNA packaging. No region across the gag-pol ORF of SIVmac239 …


Examining Eshift Through The Caregiver Policy Lens: A Content Analysis, Ashlee A. Worrall Nov 2018

Examining Eshift Through The Caregiver Policy Lens: A Content Analysis, Ashlee A. Worrall

Electronic Thesis and Dissertation Repository

Purpose: This research study intended to understand how a new model of palliative home care in Ontario, Canada called eShift aligned with the needs of caregivers who cared for a family member at the end-of-life.

Methods: A qualitative secondary analysis using a deductive content analysis of 14 caregiver interviews, three decision-maker interviews, and six home care agency documents collected in a three-year study and were analyzed using The Caregiver Policy Lens framework.

Findings: The eShift model of care met caregivers’ needs through timely access to respite, education, collaborating with the health care team, and physical and psychological support. Caregivers were …


Multicenter Trial Of A Combination Probiotic For Children With Gastroenteritis., Stephen B Freedman, Sarah Williamson-Urquhart, Ken J Farion, Serge Gouin, Andrew R Willan, Naveen Poonai, Katrina Hurley, Philip M Sherman, Yaron Finkelstein, Bonita E Lee, Xiao-Li Pang, Linda Chui, David Schnadower, Jianling Xie, Marc Gorelick, Suzanne Schuh Nov 2018

Multicenter Trial Of A Combination Probiotic For Children With Gastroenteritis., Stephen B Freedman, Sarah Williamson-Urquhart, Ken J Farion, Serge Gouin, Andrew R Willan, Naveen Poonai, Katrina Hurley, Philip M Sherman, Yaron Finkelstein, Bonita E Lee, Xiao-Li Pang, Linda Chui, David Schnadower, Jianling Xie, Marc Gorelick, Suzanne Schuh

Paediatrics Publications

Background

Gastroenteritis accounts for approximately 1.7 million visits to the emergency department (ED) by children in the United States every year. Data to determine whether the use of probiotics improves outcomes in these children are lacking.

Methods

We conducted a randomized, double-blind trial involving 886 children 3 to 48 months of age with gastroenteritis who presented to six pediatric EDs in Canada. Participants received a 5-day course of a combination probiotic product containing Lactobacillus rhamnosus R0011 and L. helveticus R0052, at a dose of 4.0×10

Results

Moderate-to-severe gastroenteritis within 14 days after enrollment occurred in 108 of 414 participants (26.1%) …


Bafopathies' Dna Methylation Epi-Signatures Demonstrate Diagnostic Utility And Functional Continuum Of Coffin-Siris And Nicolaides-Baraitser Syndromes., Erfan Aref-Eshghi, Eric G Bend, Rebecca L Hood, Laila C Schenkel, Deanna Alexis Carere, Rana Chakrabarti, Sandesh C S Nagamani, Sau Wai Cheung, Philippe M Campeau, Chitra Prasad, Victoria Mok Siu, Lauren Brady, Mark A Tarnopolsky, David J Callen, A Micheil Innes, Susan M White, Wendy S Meschino, Andrew Y Shuen, Guillaume Paré, Dennis E Bulman, Peter J Ainsworth, Hanxin Lin, David I Rodenhiser, Raoul C Hennekam, Kym M Boycott, Charles E Schwartz, Bekim Sadikovic Nov 2018

Bafopathies' Dna Methylation Epi-Signatures Demonstrate Diagnostic Utility And Functional Continuum Of Coffin-Siris And Nicolaides-Baraitser Syndromes., Erfan Aref-Eshghi, Eric G Bend, Rebecca L Hood, Laila C Schenkel, Deanna Alexis Carere, Rana Chakrabarti, Sandesh C S Nagamani, Sau Wai Cheung, Philippe M Campeau, Chitra Prasad, Victoria Mok Siu, Lauren Brady, Mark A Tarnopolsky, David J Callen, A Micheil Innes, Susan M White, Wendy S Meschino, Andrew Y Shuen, Guillaume Paré, Dennis E Bulman, Peter J Ainsworth, Hanxin Lin, David I Rodenhiser, Raoul C Hennekam, Kym M Boycott, Charles E Schwartz, Bekim Sadikovic

Paediatrics Publications

Coffin-Siris and Nicolaides-Baraitser syndromes (CSS and NCBRS) are Mendelian disorders caused by mutations in subunits of the BAF chromatin remodeling complex. We report overlapping peripheral blood DNA methylation epi-signatures in individuals with various subtypes of CSS (ARID1B, SMARCB1, and SMARCA4) and NCBRS (SMARCA2). We demonstrate that the degree of similarity in the epi-signatures of some CSS subtypes and NCBRS can be greater than that within CSS, indicating a link in the functional basis of the two syndromes. We show that chromosome 6q25 microdeletion syndrome, harboring ARID1B deletions, exhibits a similar CSS/NCBRS methylation profile. Specificity of this epi-signature was confirmed across …


The Use Of Current Steering During Subthalamic Deep Brain Stimulation To Alleviate Upper Limb Symptoms Of Parkinson's Disease, Shabna Iftikar Mohideen Nov 2018

The Use Of Current Steering During Subthalamic Deep Brain Stimulation To Alleviate Upper Limb Symptoms Of Parkinson's Disease, Shabna Iftikar Mohideen

Electronic Thesis and Dissertation Repository

Subthalamic (STN) deep brain stimulation (DBS) is an established treatment to alleviate the appendicular motor symptoms of Parkinson's Disease (PD). Current steering during DBS allows the unequal fractionation of current between two electrodes on the lead, resulting in a non-spherical electrical field. It is hypothesized that the way the electrical field is shaped will affect a patient’s upper limb symptom alleviation. Seven PD patients who underwent bilateral STN-DBS were tested over four weeks post-operation. 16 current fractionation settings were tested each week at an amplitude that increased weekly. Optimal setting was defined as the setting that provided the best …


Collared Vs. Collarless Total Hip Arthroplasty In Both Direct Anterior And Direct Lateral Approach Surgery: A Prospective Cohort Comparison Study, Seb Heaven Nov 2018

Collared Vs. Collarless Total Hip Arthroplasty In Both Direct Anterior And Direct Lateral Approach Surgery: A Prospective Cohort Comparison Study, Seb Heaven

Electronic Thesis and Dissertation Repository

Total hip arthroplasty (THA) is one of the most successful surgical procedures performed worldwide. Recent advances in implant technology and popularization of the muscle-sparing Direct Anterior (DA) approach to the hip has led to younger patients becoming candidates for hip arthroplasty surgery. Among the many considerations necessary for success in this patient population, implant design plays an important role in determining outcomes.

In this thesis, we prospectively evaluated patients who received a collared or collarless fully hydroxyapatite-coated femoral stem during THA with a standard RSA protocol to assess stem migration patterns following surgery.

Preliminary results indicate that collarless stems subside …


Cost Effectiveness Of Bilateral Prophylactic Mastectomy With And Without Different Breast Reconstruction Techniques Versus Screening In Women With High Risk Of Breast Cancer In The Canadian Province Of Ontario, Badria Aljohani Nov 2018

Cost Effectiveness Of Bilateral Prophylactic Mastectomy With And Without Different Breast Reconstruction Techniques Versus Screening In Women With High Risk Of Breast Cancer In The Canadian Province Of Ontario, Badria Aljohani

Electronic Thesis and Dissertation Repository

We aimed to investigate the cost-effectiveness of bilateral prophylactic mastectomy (BPM) with and without different reconstruction for the purpose of determining which strategies represent value for money. We developed a decision analytic model to project the lifetime clinical and economic consequences of different strategies. The decision model was parameterized using 10-year follow up and cost data from Ontario administrative health databases and Ontario Cancer registry. Compared to the organized screening-based strategy, surgical strategies ranged from being more effective and cost-saving and up to being associated with an incremental cost effectiveness ratio (ICER) of $63,010 per quality-adjusted life year (QALY) gained, …


Experimental Determination Of Motion Parameters And Path Forces Of Robot-Driven Glenoid Reaming Procedure, Mayank Sharma Nov 2018

Experimental Determination Of Motion Parameters And Path Forces Of Robot-Driven Glenoid Reaming Procedure, Mayank Sharma

Electronic Thesis and Dissertation Repository

Glenoid reaming is one of the most challenging milestones of the total shoulder arthroplasty (TSA) procedure. For a successful TSA, adequate bone resurfacing is required to ensure a well-conformed positioning of the implant onto the native bone.

In this study, a light-weight robot was employed to assert a prescribed thrust-force and reaming depth to mimic clinical practice. Reaming of bone-analogs indicated that specimen density had a linear relationship with reamer velocity and apparent machining stiffness. Human cadaveric bone studies confirmed a linear relationship between specimen density and reamer velocity in both subchondral and cancellous regions of the glenoid. A reaming …


Multi-Scale Peripheral Vasculopathy With Metabolic Syndrome, Kent Lemaster Nov 2018

Multi-Scale Peripheral Vasculopathy With Metabolic Syndrome, Kent Lemaster

Electronic Thesis and Dissertation Repository

The combination of cardiovascular and metabolic risk factors including obesity, dyslipidemia, hypertension, and insulin resistance, in combination with a prothrombotic and proinflammatory state, is a condition termed Metabolic Syndrome (METS). Twenty percent of the adult population is afflicted with METS which increases the risk of type-2 diabetes mellitus and cardiovascular disease. Further, the presence of peripheral vascular disease (PVD) is tightly coupled with METS which is a perfusion-demand mismatch of blood supply to active skeletal muscle resulting in painful claudication and a late-stage potential for amputation. The underlying contributors of METS associated micro-vasculopathies in the skeletal muscle, their impact on …


Evaluation Of The Construct Validity Of The Questionnaire To Identify Knee Symptoms Among Individuals Across Canada With Chronic Knee Pain, James Young Nov 2018

Evaluation Of The Construct Validity Of The Questionnaire To Identify Knee Symptoms Among Individuals Across Canada With Chronic Knee Pain, James Young

Electronic Thesis and Dissertation Repository

The primary purpose of this study was to evaluate the construct validity of the Questionnaire to Identify Knee Symptoms (QuIKS) measurement scale among individuals with chronic knee symptoms consistent with osteoarthritis. Construct validity was assessed using tests of convergent and discriminative validity on 15 pre-specified hypotheses. The secondary objective was to determine the internal consistency reliability of the QuIKS. One hundred and five individuals recruited in select physiotherapy clinics from across Canada were mailed the QuIKS and five other health questionnaires. Fifty-five individuals completed the questionnaire package. While none of the pre-specified construct validity hypotheses were met, nine of the …


Revision Total Knee Arthroplasty Using A Novel 3d Printed Titanium Augment: A Cadaveric Biomechanical Study, Charles-Antoine Dion Nov 2018

Revision Total Knee Arthroplasty Using A Novel 3d Printed Titanium Augment: A Cadaveric Biomechanical Study, Charles-Antoine Dion

Electronic Thesis and Dissertation Repository

During revision total knee arthroplasty (rTKA), proximal tibial bone loss is frequently encountered and can result in a less-stable bone-implant fixation. A 3D printed titanium augment that conforms to the irregular shape of the proximal tibia was recently developed. The purpose of this study was to evaluate the fixation stability of rTKA with this augment in comparison to conventional cemented rTKA.

Fixation stability testing was conducted on eleven pairs of thawed fresh-frozen cadaveric tibias (22 tibias) after primary and revision TKA. During the loading protocol, the bone-implant micromotion was measured using a high-resolution optical system.

There was significantly less micromotion …


Driver Mutations In Janus Kinases In A Mouse Model Of B-Cell Leukemia Induced By Deletion Of Pu.1 And Spi-B, Carolina R. Batista, Michelle Lim, Anne Sophie Laraḿee, Faisal Abu-Sardanah, Li S. Xu, Rajon Hossain, Gillian I. Bell, David A. Hess, Rodney P. Dekoter Nov 2018

Driver Mutations In Janus Kinases In A Mouse Model Of B-Cell Leukemia Induced By Deletion Of Pu.1 And Spi-B, Carolina R. Batista, Michelle Lim, Anne Sophie Laraḿee, Faisal Abu-Sardanah, Li S. Xu, Rajon Hossain, Gillian I. Bell, David A. Hess, Rodney P. Dekoter

Paediatrics Publications

Precursor B-cell acute lymphoblastic leukemia (B-ALL) is associated with recurrent mutations that occur in cancer-initiating cells. There is a need to understand how driver mutations influence clonal evolution of leukemia. The E26-Transformation-specific (ETS) transcription factors PU.1 and Spi-B (encoded by Spi1 and Spib) execute a critical role in B-cell development and serve as complementary tumor suppressors. Here, we used a mouse model to conditionally delete Spi1 and Spib genes in developing B cells. These mice developed B-ALL with a median time to euthanasia of 18 weeks. We performed RNA and whole-exome sequencing (WES) on leukemias isolated from Mb1-CreDPB mice and …


Effect Of Clear Aligner Therapy On Masticatory Muscle Tenderness And Orthodontic Pain, Johnny Tran Nov 2018

Effect Of Clear Aligner Therapy On Masticatory Muscle Tenderness And Orthodontic Pain, Johnny Tran

Electronic Thesis and Dissertation Repository

Introduction: Patients undergoing orthodontic clear aligner therapy (CAT) may experience discomfort in their teeth and jaws, and often present with visible wear on their aligners. This multi-site prospective clinical study aimed to analyze tooth pain and masticatory muscle tenderness in patients subjected to CAT with Invisalign©.

Methods: Twenty-seven healthy adults undergoing treatment with Invisalign© were recruited from three university-based orthodontic clinics. Tooth pain and muscle tenderness were reported on visual analog scales in pain diaries prior to, and after starting CAT. Pressure pain thresholds (PPT) measured using pressure algometers were used to assess somatosensory changes in trigeminal and extra-trigeminal locations. …