Medicine and Health Sciences Commons^™

Development And Usability Testing Of A Web-Based And Therapist-Assisted Coping Skills Program For Managing Psychosocial Problems In Individuals With Hand And Upper Limb Injuries: Mixed Methods Study, Folarin Omoniyi Babatunde, Joy Macdermid, Ruby Grewal, Luciana Macedo, Mike Szekeres

Bone and Joint Institute

© 2020 Folarin Omoniyi Babatunde, Joy MacDermid, Ruby Grewal, Luciana Macedo, Mike Szekeres. Background: Ineffective coping has been linked to prolonged pain, distress, anxiety, and depression after a hand and upper limb injury. Evidence shows that interventions based on cognitive behavioral therapy (CBT) may be effective in improving treatment outcomes, but traditional psychological interventions are resource intensive and unrealistic in busy hand therapy practices. Developing web-based, evidence-based psychological interventions specifically for hand therapy may be feasible in clinical practice and at home with reduced training and travel costs. Hand Therapy Online Coping Skills (HOCOS) is a program developed to supplement …

Repetita Iuvant: Repetition Facilitates Online Planning Of Sequential Movements, Giacomo Ariani, Young Han Kwon, Jörn Diedrichsen

Brain and Mind Institute Researchers' Publications

Copyright © 2020 the American Physiological Society. Beyond being essential for long-term motor-skill development, movement repetition has immediate benefits on performance, increasing speed and accuracy of a second execution. While repetition effects have been reported for single reaching movements, it has yet to be determined whether they also occur for movement sequences, and what aspects of sequence production are improved. We addressed these questions in two behavioral experiments using a discrete sequence production (DSP) task in which human volunteers had to perform short sequences of finger movements. In experiment 1, we presented participants with randomly varying sequences and manipulated 1) …

Identification Of Adverse Events In Pediatric Severe Traumatic Brain Injury Patients To Target Evidence-Based Prevention For Increased Performance Improvement And Patient Safety, Douglas Fraser

Data and Test Instruments

No abstract provided.

Meeting Radiation Dosimetry Capacity Requirements Of Population-Scale Exposures By Geostatistical Sampling., Peter K Rogan, Eliseos J Mucaki, Ruipeng Lu, Ben C Shirley, Edward Waller, Joan H M Knoll

Biochemistry Publications

BACKGROUND: Accurate radiation dose estimates are critical for determining eligibility for therapies by timely triaging of exposed individuals after large-scale radiation events. However, the universal assessment of a large population subjected to a nuclear spill incident or detonation is not feasible. Even with high-throughput dosimetry analysis, test volumes far exceed the capacities of first responders to measure radiation exposures directly, or to acquire and process samples for follow-on biodosimetry testing.

AIM: To significantly reduce data acquisition and processing requirements for triaging of treatment-eligible exposures in population-scale radiation incidents.

METHODS: Physical radiation plumes modelled nuclear detonation scenarios of simulated exposures at …

Prevalence And Risk Factors Of Falls In Adults 1 Year After Total Hip Arthroplasty For Osteoarthritis: A Cross-Sectional Study, Susan W. Hunter, Pavlos Bobos, Lyndsay Somerville, James Howard, Edward M Vasarhelyi, Brent Lanting

Physical Therapy Publications

Total hip arthroplasty is very successful in alleviating the pain from osteoarthritis. However, deficits in lower limb strength, gait, and balance after surgery has identified this group at risk of falls. Considering the high number of people annually receiving a total hip arthroplasty, further elaboration of factors associated with falls is needed to refine fall prevention guidelines. The objective was to examine the prevalence and circumstances of falling and the risk factors associated with falling in older adults in the first year after total hip arthroplasty surgery. This was a cross-sectional study involving 108 individuals (age of 72.4 ± 6.5 …

Standards Of Care For Children In Emergency Departments: International Federation Of Emergency Medicine Agenda For The Care Of Children., Camilo E Gutierrez, Marianne Gausche-Hill, Rodrick K Lim

Paediatrics Publications

No abstract provided.

Behind The Numbers: Covid-19 In Selected Locations On 21 Apr 2020., Vivian Mcalister

Data and Test Instruments

No abstract provided.

Table 1. Behind The Numbers: Covid 19 In Selected Locations On 21 Apr 2020., Vivian Mcalister

Data and Test Instruments

No abstract provided.

Maternal Exposure To Δ9-Tetrahydrocannabinol Impairs Female Offspring Glucose Homeostasis And Endocrine Pancreatic Development In The Rat., Ryan Gillies, Kendrick Lee, Sebastian Vanin, Steven R Laviolette, Alison C Holloway, Edith Arany, Daniel B Hardy

Physiology and Pharmacology Publications

Recent reports indicate that 7% of pregnant mothers in North America use cannabis. This is concerning given that in utero exposure to Δ9-tetrahydrocannabinol (Δ9-THC), the main psychoactive component in cannabis, causes fetal growth restriction and may alter replication and survival of pancreatic β-cells in the offspring. Accordingly, we hypothesized that maternal exposure to Δ9-THC during pregnancy would impair postnatal glucometabolic health of offspring. To test this hypothesis, pregnant Wistar rats were treated with daily intraperitoneal injections of either 3 mg/kg Δ9-THC or vehicle from gestational day 6 to birth. Offspring were subsequently challenged with glucose and insulin at 5 months …

Executive Function As A Mediating Factor Between Visual Acuity And Postural Stability In Cognitively Healthy Adults And Adults With Alzheimer's Dementia, Susan W. Hunter, Alison Divine, Edward Madou, Humberto Omana, Keith D Hill, Andrew M Johnson, Jeffrey D Holmes, Walter Wittich

Physical Therapy Publications

BACKGROUND: Falls in older adults, notably those with Alzheimer's dementia (AD), are prevalent. Vision and balance impairments are prominent falls risk factors in older adults. However, recent literature in the cognitively impaired suggests that executive function (EF) is important for falls risk assessments. The study objectives were to: 1) to compare balance among people with AD, healthy older adults (OA), and healthy young adults (YA) and 2) to quantify the interaction of visual acuity and EF on postural stability.

METHODS: We recruited 165 individuals (51 YA, 48 OA, and 66 AD). Trail Making Tests (A and B) quantified EF and …

A Comes Before B, Like 1 Comes Before 2. Is The Parietal Cortex Sensitive To Ordinal Relationships In Both Numbers And Letters? An Fmri-Adaptation Study, Celia Goffin, Stephan E. Vogel, Michael Slipenkyj, Daniel Ansari

Brain and Mind Institute Researchers' Publications

How are number symbols (e.g., Arabic digits) represented in the brain? Functional resonance imaging adaptation (fMRI-A) research has indicated that the intraparietal sulcus (IPS) exhibits a decrease in activation with the repeated presentation of the same number, that is followed by a rebound effect with the presentation of a new number. This rebound effect is modulated by the numerical ratio or difference between presented numbers. It has been suggested that this ratio-dependent rebound effect is reflective of a link between the symbolic numerical representation system and an approximate magnitude system. Experiment 1 used fMRI-A to investigate an alternative hypothesis: that …

Chronic Morphine Regulates Trpm8 Channels Via Mor-Pkcβ Signaling, Mircea Iftinca, Lilian Basso, Robyn Flynn, Charlie Kwok, Corinne Roland, Ahmed Hassan, Manon Defaye, Rithwik Ramachandran, Tuan Trang, Christophe Altier

Physiology and Pharmacology Publications

© 2020 The Author(s). Postoperative shivering and cold hypersensitivity are major side effects of acute and chronic opioid treatments respectively. TRPM8 is a cold and menthol-sensitive channel found in a subset of dorsal root ganglion (DRG) nociceptors. Deletion or inhibition of the TRPM8 channel was found to prevent the cold hyperalgesia induced by chronic administration of morphine. Here, we examined the mechanisms by which morphine was able to promote cold hypersensitivity in DRG neurons and transfected HEK cells. Mice daily injected with morphine for 5 days developed cold hyperalgesia. Treatment with morphine did not alter the expressions of cold sensitive …

A Narrative Review And Content Analysis Of Functional And Quality Of Life Measures Used To Evaluate The Outcome After Tsa: An Icf Linking Application, Ze Lu, Joy C. Macdermid, Peter Rosenbaum

Bone and Joint Institute

© 2020 The Author(s). Background: Total shoulder arthroplasty (TSA) is considered as the standard reconstructive surgery for patients suffering from severe shoulder pain and dysfunction caused by arthrosis. Multiple patient-reported outcome measures (PROMs) have been developed and validated that can be used to evaluate TSA outcomes. When selecting an outcome measure both content and psychometric properties must be considered. Most research to date has focused on psychometric properties. Therefore, the current study aims to summarize what PROMs are being used to assess TSA outcomes, to classify the type of measure (International society for quality of life (ISOQOL) using definitions of …

Evaluation Of The Quality Of Clinical Data Collection For A Pan-Canadian Cohort Of Children Affected By Inherited Metabolic Diseases: Lessons Learned From The Canadian Inherited Metabolic Diseases Research Network., Kylie Tingley, Monica Lamoureux, Michael Pugliese, Michael T. Geraghty, Jonathan B. Kronick, Beth K Potter, Doug Coyle, Kumanan Wilson, Michael Kowalski, Valerie Austin, Catherine Brunel-Guitton, Daniela Buhas, Alicia K J Chan, Sarah Dyack, Annette Feigenbaum, Alette Giezen, Sharan Goobie, Cheryl R Greenberg, Shailly Jain Ghai, Michal Inbar-Feigenberg, N Karp, Mariya Kozenko, Erica Langley, Matthew Lines, Julian Little, Jennifer Mackenzie, Bruno Maranda, Saadet Mercimek-Andrews, Connie Mohan, Aizeddin Mhanni, Grant Mitchell, John J Mitchell, Laura Nagy, Melanie P. Napier, Amy Pender, Murray Potter, Chitra Prasad, Suzanne Ratko, Ramona Salvarinova, Andreas Schulze, Komudi Siriwardena, Neal Sondheimer, Rebecca Sparkes, Sylvia Stockler-Ipsiroglu, Yannis Trakadis, Lesley Turner, Clara Van Karnebeek, Hilary Vallance, Anthony Vandersteen, Jagdeep Walia, Ashley Wilson, Brenda J. Wilson, Andrea C. Yu, Nataliya Yuskiv, Pranesh Chakraborty

Paediatrics Publications

BACKGROUND: The Canadian Inherited Metabolic Diseases Research Network (CIMDRN) is a pan-Canadian practice-based research network of 14 Hereditary Metabolic Disease Treatment Centres and over 50 investigators. CIMDRN aims to develop evidence to improve health outcomes for children with inherited metabolic diseases (IMD). We describe the development of our clinical data collection platform, discuss our data quality management plan, and present the findings to date from our data quality assessment, highlighting key lessons that can serve as a resource for future clinical research initiatives relating to rare diseases.

METHODS: At participating centres, children born from 2006 to 2015 who were diagnosed …

Predicting Hemolytic Uremic Syndrome And Renal Replacement Therapy In Shiga Toxin-Producing Escherichia Coli-Infected Children., Ryan S Mckee, David Schnadower, Phillip I Tarr, Jianling Xie, Yaron Finkelstein, Neil Desai, Roni D Lane, Kelly R Bergmann, Ron L Kaplan, Selena Hariharan, Andrea T Cruz, Daniel M Cohen, Andrew Dixon, Sriram Ramgopal, Annie Rominger, Elizabeth C Powell, Jennifer Kilgar, Kenneth A Michelson, Darcy Beer, Martin Bitzan, Christopher M Pruitt, Kenneth Yen, Garth D Meckler, Amy C Plint, Stuart Bradin, Thomas J Abramo, Serge Gouin, April J Kam, Abigail Schuh, Fran Balamuth, Tracy E Hunley, John T Kanegaye, Nicholas E Jones, Usha Avva, Robert Porter, Daniel M Fein, Jeffrey P Louie, Stephen B Freedman

Paediatrics Publications

BACKGROUND: Shiga toxin-producing Escherichia coli (STEC) infections are leading causes of pediatric acute renal failure. Identifying hemolytic uremic syndrome (HUS) risk factors is needed to guide care.

METHODS: We conducted a multicenter, historical cohort study to identify features associated with development of HUS (primary outcome) and need for renal replacement therapy (RRT) (secondary outcome) in STEC-infected children without HUS at initial presentation. Children agedeligible.

RESULTS: Of 927 STEC-infected children, 41 (4.4%) had HUS at presentation; of the remaining 886, 126 (14.2%) developed HUS. Predictors (all shown as odds ratio [OR] with 95% confidence interval [CI]) of HUS included younger age …

Lessons Learned In Practice-Based Research: Studying Preschool Language Interventions In The Real World, Rachael E. Smyth, Julie Theurer, Lisa Md Archibald, Janis Oram Cardy

PRECISe Preschool Speech and Language Publications

Abstract

Background and aims: Practice-based research holds potential as a promising solution to closing the research-practice gap, because it addresses research questions based on problems that arise in clinical practice and tests whether systems and interventions are effective and sustainable in a clinical setting. One type of practice-based research involves capturing practice by collecting evidence within clinical settings to evaluate the effectiveness of current practices. Here, we describe our collaboration between researchers and clinicians that sought to answer clinician-driven questions about community-based language interventions for young children (Are our interventions effective? What predicts response to our interventions?) and to address …

Organizational Guidance For The Care Of Patients With Head-And-Neck Cancer In Ontario., J Irish, J Kim, J Waldron, A C Wei, E Winquist, J Yoo, A Boasie, M Brouwers, E Meertens, S Mcnair, C Walker-Dilks

Paediatrics Publications

Background: At the request of the Head and Neck Cancers Advisory Committee of Ontario Health (Cancer Care Ontario), a working group and expert panel of clinicians with expertise in the management of head-and-neck cancer developed the present guideline. The purpose of the guideline is to provide advice about the organization and delivery of health care services for adult patients with head-and-neck cancer.

Methods: This document updates the recommendations published in the Ontario Health (Cancer Care Ontario) 2009 organizational guideline

Results: To ensure that all patients have access to the highest standard of care available in Ontario, the guideline establishes the …

Pharmacogenomic Testing: Enhancing Personalized Medication Use For Patients., Catrina M Loucks, Gabriella Groeneweg, Carl Roy, David K Lee, Michael J Rieder, Denis Lebel, Shinya Ito, Colin J Ross, Bruce C Carleton

Paediatrics Publications

No abstract provided.

Sjs/Ten 2019: From Science To Translation., Wan-Chun Chang, Riichiro Abe, Paul Anderson, Wanpen Anderson, Michael R Ardern-Jones, Thomas M Beachkofsky, Teresa Bellón, Agnieszka K Biala, Charles Bouchard, Gianpiero L Cavalleri, Nicole Chapman, James Chodosh, Hyon K Choi, Ricardo R Cibotti, Sherrie J Divito, Karen Dewar, Ulrike Dehaeck, Mahyar Etminan, Diane Forbes, Esther Fuchs, Jennifer L Goldman, James H Holmes, Elyse A Hope, Shuen-Iu Hung, Chia-Ling Hsieh, Alfonso Iovieno, Julienne Jagdeo, Mee Kum Kim, David M Koelle, Mario E Lacouture, Sophie Le Pallec, Rannakoe J Lehloenya, Robyn Lim, Angie Lowe, Jean Mccawley, Julie Mccawley, Robert G Micheletti, Maja Mockenhaupt, Katie Niemeyer, Michael A Norcross, Douglas Oboh, Cristina Olteanu, Helena B Pasieka, Jonathan Peter, Munir Pirmohamed, Michael Rieder, Hajirah N Saeed, Neil H Shear, Christine Shieh, Sabine Straus, Chonlaphat Sukasem, Cynthia Sung, Jason A Trubiano, Sheng-Ying Tsou, Mayumi Ueta, Simona Volpi, Chen Wan, Hongsheng Wang, Zhao-Qing Wang, Jessica Weintraub, Cindy Whale, Lisa M Wheatley, Sonia Whyte-Croasdaile, Kristina B Williams, Galen Wright, Sonia N Yeung, Li Zhou, Wen-Hung Chung, Elizabeth J Phillips, Bruce C Carleton

Paediatrics Publications

Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS/TEN) are potentially life-threatening, immune-mediated adverse reactions characterized by widespread erythema, epidermal necrosis, and detachment of skin and mucosa. Efforts to grow and develop functional international collaborations and a multidisciplinary interactive network focusing on SJS/TEN as an uncommon but high burden disease will be necessary to improve efforts in prevention, early diagnosis and improved acute and long-term management. SJS/TEN 2019: From Science to Translation was a 1.5-day scientific program held April 26-27, 2019, in Vancouver, Canada. The meeting successfully engaged clinicians, researchers, and patients and conducted many productive discussions on research and patient care …

Concordance Between Health Administrative Data And Survey-Derived Diagnoses For Mood And Anxiety Disorders, J. Edwards, A. Thind, S. Stranges, M. Chiu, Kelly K. Anderson

Epidemiology and Biostatistics Publications

Objective: To assess whether estimates of survey structured interview diagnoses of mood and anxiety disorders were concordant with diagnoses of these disorders obtained from health administrative data.

Methods: All Ontario respondents to the 2012 Canadian Community Health Survey-Mental Health (CCHS-MH) were linked to health administrative databases at ICES (formerly known as the Institute for Clinical Evaluative Sciences). Survey structured interview diagnoses were compared with health administrative data diagnoses obtained using a standardized algorithm. We used modified Poisson regression analyses to assess whether socio-demographic factors were associated with concordance between the two measures.

Results: Of the 4157 Ontarians included in our …

Gsk3787-Loaded Poly(Ester Amide) Particles For Intra-Articular Drug Delivery, Ian J. Villamagna, Danielle M. Mcrae, Aneta Borecki, Xueli Mei, François Lagugné-Labarthet, Frank Beier, Elizabeth R. Gillies

Bone and Joint Institute

© 2020 by the authors. Osteoarthritis (OA) is a debilitating joint disorder affecting more than 240 million people. There is no disease modifying therapeutic, and drugs that are used to alleviate OA symptoms result in side effects. Recent research indicates that inhibition of peroxisome proliferator-activated receptor ffi (PPARffi) in cartilage may attenuate the development or progression of OA. PPARffi antagonists such as GSK3787 exist, but would benefit from delivery to joints to avoid side effects. Described here is the loading of GSK3787 into poly(ester amide) (PEA) particles. The particles contained 8 wt. % drug and had mean diameters of about …

Appraisal Of Clinical Practice Guideline: Clinical Practice Guidelines For Pain Management In Acute Musculoskeletal Injury, Armaghan Dabbagh, Joy C. Macdermid

Bone and Joint Institute

No abstract provided.

Sensory Inflow Manipulation Induces Learning-Like Phenomena In Motor Behavior, Samuele Contemori, Cristina V. Dieni, Jacqueline A. Sullivan, Aldo Ferraresi, Chiara Occhigrossi, Francesco Calabrese, Vito E. Pettorossi, Andrea Biscarini, Roberto Panichi

Brain and Mind Institute Researchers' Publications

© 2020, Springer-Verlag GmbH Germany, part of Springer Nature. Purpose: Perceptual and goal-directed behaviors may be improved by repetitive sensory stimulations without practice-based training. Focal muscle vibration (f-MV) modulating the spatiotemporal properties of proprioceptive inflow is well-suited to investigate the effectiveness of sensory stimulation in influencing motor outcomes. Thus, in this study, we verified whether optimized f-MV stimulation patterns might affect motor control of upper limb movements. Methods: To answer this question, we vibrated the slightly tonically contracted anterior deltoid (AD), posterior deltoid (PD), and pectoralis major muscles in different combinations in forty healthy subjects at a frequency of 100 …

Fev1 And Mri Ventilation Defect Reversibility In Asthma And Copd, Hana Serajeddini, Rachel L Eddy, Christopher Licskai, David G Mccormack, Grace Parraga

Medical Biophysics Publications

The underlying pathophysiological determinants of asthma and chronic obstructive pulmonary disease (COPD) are related in complex ways. Importantly however, post-bronchodilator FEV1- reversibility may occur in approximately 50% of COPD patients whilst epidemiological and magnetic-resonance-imaging (MRI) studies suggest that in asthmatics, FEV1-reversibility may diminish over time. As compared to patients with asthma or COPD alone, patients with coexisting asthma and COPD report worse clinical outcomes and increased healthcare costs and burden.

A Core Outcome Set For Studies Of Gestational Diabetes Mellitus Prevention And Treatment, Aoife M Egan, Delia Bogdanet, Tomás P Griffin, Oratile Kgosidialwa, Mila Cervar-Zivkovic, Eugene Dempsey, John Allotey, Fernanda Alvarado, Cheril Clarson, Shamil D Cooray, Harold W De Valk, Sander Galjaard, Mary R Loeken, Michael J A Maresh, Angela Napoli, Paula M O'Shea, Ewa Wender-Ozegowska, Mireille N M Van Poppel, Shakila Thangaratinam, Caroline Crowther, Linda M Biesty, Declan Devane, Fidelma P Dunne

Paediatrics Publications

AIMS/HYPOTHESIS: The aim of this systematic review was to develop core outcome sets (COSs) for trials evaluating interventions for the prevention or treatment of gestational diabetes mellitus (GDM).

METHODS: We identified previously reported outcomes through a systematic review of the literature. These outcomes were presented to key stakeholders (including patient representatives, researchers and clinicians) for prioritisation using a three-round, e-Delphi study. A priori consensus criteria informed which outcomes were brought forward for discussion at a face-to-face consensus meeting where the COS was finalised.

RESULTS: Our review identified 74 GDM prevention and 116 GDM treatment outcomes, which were presented to stakeholders …

Pain Squad+ Smartphone App To Support Real-Time Pain Treatment For Adolescents With Cancer: Protocol For A Randomised Controlled Trial., Lindsay Jibb, Paul C Nathan, Vicky Breakey, Conrad Fernandez, Donna Johnston, Victor Lewis, Sarah Mckillop, Serina Patel, Christine Sabapathy, Caron Strahlendorf, J Charles Victor, Myla E Moretti, Cynthia Nguyen, Amos Hundert, Celia Cassiani, Graziella El-Khechen Richandi, Hayley Insull, Rachel Hamilton, Geoffrey Fang, Susan Kuczynski, Jennifer Stinson

Paediatrics Publications

INTRODUCTION: Pain negatively affects the health-related quality of life (HRQL) of adolescents with cancer. The Pain Squad+ smartphone-based application (app), has been developed to provide adolescents with real-time pain self-management support. The app uses a validated pain assessment and personalised pain treatment advice with centralised decision support via a registered nurse to enable real-time pain treatment in all settings. The algorithm informing pain treatment advice is evidence-based and expert-vetted. This trial will longitudinally evaluate the impact of Pain Squad+, with or without the addition of nurse support, on adolescent health and cost outcomes.

METHODS AND ANALYSIS: This will be a …

Circulating Leptin Levels Are Associated With Adiposity In Survivors Of Childhood Brain Tumors., E Danielle Sims, William J. Jennings, Brianna Empringham, Adam Fleming, Carol Portwine, Donna L. Johnston, Shayna M. Zelcer, Shahrad Rod Rassekh, Sarah Burrow, Lehana Thabane, M Constantine Samaan

Paediatrics Publications

Survivors of Childhood Brain Tumors (SCBT) are at a higher risk of developing cardiovascular disease and type 2 diabetes compared to the general population. Adiposity is an important risk factor for the development of these outcomes, and identifying biomarkers of adiposity may help the stratification of survivors based on their cardiovascular risk or allow for early screening and interventions to improve cardiometabolic outcomes. Leptin is an adipokine that positively correlates with the adipose mass in the general population and is a predictor of adverse cardiometabolic outcomes, yet its association with adiposity in SCBT has not been studied. The aim of …

New Horizons In The Genetic Etiology Of Systemic Lupus Erythematosus And Lupus-Like Disease: Monogenic Lupus And Beyond, Erkan Demirkaya, Sezgin Sahin, Micol Romano, Qing Zhou, Ivona Aksentijevich

Paediatrics Publications

Systemic lupus erythematosus (SLE) is a clinically and genetically heterogeneous autoimmune disease. The etiology of lupus and the contribution of genetic, environmental, infectious and hormonal factors to this phenotype have yet to be elucidated. The most straightforward approach to unravel the molecular pathogenesis of lupus may rely on studies of patients who present with early-onset severe phenotypes. Typically, they have at least one of the following clinical features: childhood onset of severe disease (<5 >years), parental consanguinity, and presence of family history for autoimmune diseases in a first-degree relative. These patients account for a small proportion of patients with lupus …

Evaluation Of Dna Methylation Episignatures For Diagnosis And Phenotype Correlations In 42 Mendelian Neurodevelopmental Disorders., Erfan Aref-Eshghi, Jennifer Kerkhof, Victor P Pedro, Mouna Barat-Houari, Nathalie Ruiz-Pallares, Jean-Christophe Andrau, Didier Lacombe, Julien Van-Gils, Patricia Fergelot, Christèle Dubourg, Valerie Cormier-Daire, Sophie Rondeau, François Lecoquierre, Pascale Saugier-Veber, Gaël Nicolas, Gaetan Lesca, Nicolas Chatron, Damien Sanlaville, Antonio Vitobello, Laurence Faivre, Christel Thauvin-Robinet, Frederic Laumonnier, Martine Raynaud, Mariëlle Alders, Marcel Mannens, Peter Henneman, Raoul C Hennekam, Guillaume Velasco, Claire Francastel, Damien Ulveling, Andrea Ciolfi, Simone Pizzi, Marco Tartaglia, Solveig Heide, Delphine Héron, Cyril Mignot, Boris Keren, Sandra Whalen, Alexandra Afenjar, Thierry Bienvenu, Philippe M Campeau, Justine Rousseau, Michael A Levy, Lauren Brick, Mariya Kozenko, Tugce B Balci, Victoria Mok Siu, Alan Stuart, Mike Kadour, Jennifer Masters, Kyoko Takano, Tjitske Kleefstra, Nicole De Leeuw, Michael Field, Marie Shaw, Jozef Gecz, Peter J Ainsworth, Hanxin Lin, David I Rodenhiser, Michael J Friez, Matt Tedder, Jennifer A Lee, Barbara R Dupont, Roger E Stevenson, Steven A Skinner, Charles E Schwartz, David Genevieve, Bekim Sadikovic

Paediatrics Publications

Genetic syndromes frequently present with overlapping clinical features and inconclusive or ambiguous genetic findings which can confound accurate diagnosis and clinical management. An expanding number of genetic syndromes have been shown to have unique genomic DNA methylation patterns (called "episignatures"). Peripheral blood episignatures can be used for diagnostic testing as well as for the interpretation of ambiguous genetic test results. We present here an approach to episignature mapping in 42 genetic syndromes, which has allowed the identification of 34 robust disease-specific episignatures. We examine emerging patterns of overlap, as well as similarities and hierarchical relationships across these episignatures, to highlight …

Reduced Cognitive Assessment Scores Among Individuals With Magnetic Resonance Imaging-Detected Vascular Brain Injury, Sonia S Anand, Matthias G Friedrich, Dipika Desai, Karleen M Schulze, Philip Awadalla, David Busseuil, Trevor J B Dummer, Sébastien Jacquemont, Alexander Dick, David Kelton, Anish Kirpalani, Scott A Lear, Jonathan Leipsic, Michael D Noseworthy, Louise Parker, Grace Parraga, Paul Poirier, Paula Robson, Jean-Claude Tardif, Koon Teo, Jennifer Vena, Salim Yusuf, Alan R Moody, Sandra E Black, Eric E Smith

Medical Biophysics Publications

Background and Purpose- Little is known about the association between covert vascular brain injury and cognitive impairment in middle-aged populations. We investigated if scores on a cognitive screen were lower in individuals with higher cardiovascular risk, and those with covert vascular brain injury. Methods- Seven thousand five hundred forty-seven adults, aged 35 to 69 years, free of cardiovascular disease underwent a cognitive assessment using the Digital Symbol Substitution test and Montreal Cognitive Assessment, and magnetic resonance imaging (MRI) to detect covert vascular brain injury (high white matter hyperintensities, lacunar, and nonlacunar brain infarctions). Cardiovascular risk factors were quantified using the …