Medicine and Health Sciences Commons^™

Diffusion Of Elbulli’S Innovation: Rate Of Adoption In Allrecipes And Epicurious, Antonio Jimenez-Mavillard, Juan Luis Suárez

CulturePlex Lab Publications

Eating habits provide valuable input to the high-cuisine industry seeking to develop effective strategies to attract new clientele to its restaurants. It is noticeable that many professional chefs working in high-end restaurants have adopted elBulli’s innovation (ideas, practices, cooking style); however, this innovation trend is not so clear among amateur cooks, whose recipes could give us a more accurate idea of people’s food preferences. In this paper, we aim to check whether or not amateur cooks in online recipe communities are also adopting elBulli’s innovation, and if so, at what rate. In particular, we focused on the use of ingredients …

Histologic Tissue Components Provide Major Cues For Machine Learning-Based Prostate Cancer Detection And Grading On Prostatectomy Specimens, Wenchao Han, Carol Johnson, Mena Gaed, José A. Gómez, Madeleine Moussa, Joseph L. Chin, Stephen Pautler, Glenn S. Bauman, Aaron D. Ward

Medical Biophysics Publications

Automatically detecting and grading cancerous regions on radical prostatectomy (RP) sections facilitates graphical and quantitative pathology reporting, potentially benefitting post-surgery prognosis, recurrence prediction, and treatment planning after RP. Promising results for detecting and grading prostate cancer on digital histopathology images have been reported using machine learning techniques. However, the importance and applicability of those methods have not been fully investigated. We computed three-class tissue component maps (TCMs) from the images, where each pixel was labeled as nuclei, lumina, or other. We applied seven different machine learning approaches: three non-deep learning classifiers with features extracted from TCMs, and four deep learning, …

A Telescope Gwas Analysis Strategy, Based On Snps-Genes-Pathways Ensamble And On Multivariate Algorithms, To Characterize Late Onset Alzheimer’S Disease, Margherita Squillario, Giulia Abate, Federico Tomasi, Veronica Tozzo, Annalisa Barla, Daniela Uberti, Michael W. Weiner, Paul Aisen, Ronald Petersen, Jack R. Clifford, William Jagust, John Q. Trojanowki, Arthur W. Toga, Laurel Beckett, Robert C. Green, Andrew J. Saykin, John Morris, Leslie M. Shaw, Zaven Khachaturian, Greg Sorensen, Maria Carrillo, Lew Kuller, Marc Raichle, Steven Paul, Peter Davies, Howard Fillit, Franz Hefti, Davie Holtzman, M. Marcel Mesulam, William Potter, Peter Snyder, Tom Montine

Medical Biophysics Publications

Genome–wide association studies (GWAS) have revealed a plethora of putative susceptibility genes for Alzheimer’s disease (AD), with the sole exception of APOE gene unequivocally validated in independent study. Considering that the etiology of complex diseases like AD could depend on functional multiple genes interaction network, here we proposed an alternative GWAS analysis strategy based on (i) multivariate methods and on a (ii) telescope approach, in order to guarantee the identification of correlated variables, and reveal their connections at three biological connected levels. Specifically as multivariate methods, we employed two machine learning algorithms and a genetic association test and we considered …

Challenges And Opportunities With Causal Discovery Algorithms: Application To Alzheimer’S Pathophysiology, Xinpeng Shen, Sisi Ma, Prashanthi Vemuri, Gyorgy Simon, Michael W. Weiner, Paul Aisen, Ronald Petersen, Clifford R. Jack, Andrew J. Saykin, William Jagust, John Q. Trojanowki, Arthur W. Toga, Laurel Beckett, Robert C. Green, John Morris, Leslie M. Shaw, Zaven Khachaturian, Greg Sorensen, Maria Carrillo, Lew Kuller, Marc Raichle, Steven Paul, Peter Davies, Howard Fillit, Franz Hefti, David Holtzman, M. Marcel Mesulam, William Potter, Peter Snyder, Adam Schwartz, Tom Montine, Ronald G. Thomas

Medical Biophysics Publications

Causal Structure Discovery (CSD) is the problem of identifying causal relationships from large quantities of data through computational methods. With the limited ability of traditional association-based computational methods to discover causal relationships, CSD methodologies are gaining popularity. The goal of the study was to systematically examine whether (i) CSD methods can discover the known causal relationships from observational clinical data and (ii) to offer guidance to accurately discover known causal relationships. We used Alzheimer’s disease (AD), a complex progressive disease, as a model because the well-established evidence provides a “gold-standard” causal graph for evaluation. We evaluated two CSD methods, Fast …

Fam222a Encodes A Protein Which Accumulates In Plaques In Alzheimer’S Disease, Tingxiang Yan, Jingjing Liang, Ju Gao, Luwen Wang, Hisashi Fujioka, Michael W. Weiner, Norbert Schuff, Howard J. Rosen, Bruce L. Miller, David Perry, Paul Aisen, Paul Aisen, Arthur W. Toga, Gustavo Jimenez, Michael Donohue, Devon Gessert, Kelly Harless, Jennifer Salazar, Yuliana Cabrera, Sarah Walter, Lindsey Hergesheimer, Arthur W. Toga, Karen Crawford, Scott Neu, Lon S. Schneider, Sonia Pawluczyk, Mauricio Becerra, Liberty Teodoro, Bryan M. Spann, Ronald Petersen, Clifford R. Jack, Matthew Bernstein

Medical Biophysics Publications

Alzheimer’s disease (AD) is characterized by amyloid plaques and progressive cerebral atrophy. Here, we report FAM222A as a putative brain atrophy susceptibility gene. Our cross-phenotype association analysis of imaging genetics indicates a potential link between FAM222A and AD-related regional brain atrophy. The protein encoded by FAM222A is predominantly expressed in the CNS and is increased in brains of patients with AD and in an AD mouse model. It accumulates within amyloid deposits, physically interacts with amyloid-β (Aβ) via its N-terminal Aβ binding domain, and facilitates Aβ aggregation. Intracerebroventricular infusion or forced expression of this protein exacerbates neuroinflammation and cognitive dysfunction …

Social Cognition Impairment In Genetic Frontotemporal Dementia Within The Genfi Cohort, Lucy L. Russell, Caroline V. Greaves, Martina Bocchetta, Jennifer Nicholas, Rhian S. Convery, Katrina Moore, David M. Cash, John Van Swieten, Lize Jiskoot, Fermin Moreno, Raquel Sanchez-Valle, Barbara Borroni, Robert Laforce, Mario Masellis, Maria Carmela Tartaglia, Caroline Graff, Emanuela Rotondo, Daniela Galimberti, James B. Rowe, Elizabeth Finger, Matthis Synofzik, Rik Vandenberghe, Alexandre De Mendonça, Fabrizio Tagliavini, Isabel Santana, Simon Ducharme, Chris Butler, Alex Gerhard, Johannes Levin, Adrian Danek, Markus Otto, Jason D. Warren

Medical Biophysics Publications

A key symptom of frontotemporal dementia (FTD) is difficulty interacting socially with others. Social cognition problems in FTD include impaired emotion processing and theory of mind difficulties, and whilst these have been studied extensively in sporadic FTD, few studies have investigated them in familial FTD. Facial Emotion Recognition (FER) and Faux Pas (FP) recognition tests were used to study social cognition within the Genetic Frontotemporal Dementia Initiative (GENFI), a large familial FTD cohort of C9orf72, GRN, and MAPT mutation carriers. 627 participants undertook at least one of the tasks, and were separated into mutation-negative healthy controls, presymptomatic mutation carriers (split …

Dystrophic Calcification And Heterotopic Ossification In Fibrocartilaginous Tissues Of The Spine In Diffuse Idiopathic Skeletal Hyperostosis (Dish), Dale E. Fournier, Patti K. Kiser, Ryan J. Beach, S. Jeffrey Dixon, Cheryle A. Séguin

Bone and Joint Institute

© 2020, The Author(s). Diffuse idiopathic skeletal hyperostosis (DISH) is a prevalent noninflammatory spondyloarthropathy characterized by ectopic mineral formation along the anterolateral aspect of the vertebral column, yet little is known about its underlying pathogenesis. Our objective was to evaluate the histopathological features and composition of ectopic mineral within spinal tissues affected by DISH in humans. Thoracic spine segments from six embalmed cadaveric donors (one female and five males; median age 82 years) meeting the radiographic diagnostic criteria for DISH were evaluated using radiological, histological, and physical analyses. Overall, the histological features of ectopic mineralization at individual motion segments were …

Content Validation Of The Kamath And Stothard Questionnaire For Carpal Tunnel Syndrome Diagnosis: A Cognitive Interviewing Study, Armaghan Dabbagh, Joy C. Macdermid, Tara L. Packham, Luciana G. Macedo

Bone and Joint Institute

© 2020, The Author(s). Background: Accurate diagnosis of carpal tunnel syndrome (CTS) is essential for directing appropriate treatment; and for making decisions about work injury claims. The Kamath and Stothard Questionnaire (KSQ) is a self-reported tool used for the diagnosis of CTS. Comprehensibility and comprehensiveness of this questionnaire are critical to diagnostic performance and need to be established. The purpose of the study was to describe how potential respondents, clinicians, and measurement researchers interpret KSQ questions in order to identify and resolve potential sources of misclassification. Methods: Hand therapists, measurement researchers, participants with CTS, and a control group were interviewed …

Reproducibility: Reliability And Agreement Parameters Of The Revised Short Mcgill Pain Questionnaire Version-2 For Use In Patients With Musculoskeletal Shoulder Pain, Samuel U. Jumbo, Joy C. Macdermid, Tara L. Packham, George S. Athwal, Kenneth J. Faber

Bone and Joint Institute

© 2020, The Author(s). Background: The Revised Short McGill Pain Questionnaire Version-2 (SF-MPQ-2) is a multidimensional outcome measure designed to capture, evaluate and discriminate pain from neuropathic and non-neuropathic sources. A recent systematic review found insufficient psychometric data with respect to musculoskeletal (MSK) health conditions. This study aimed to describe the reproducibility (test–retest reliability and agreement) and internal consistency of the SF-MPQ-2 for use among patients with musculoskeletal shoulder pain. Methods: Eligible patients with shoulder pain from MSK sources completed the SF-MPQ-2: at baseline (n = 195), and a subset did so again after 3–7 days (n = 48), if …

Coexistence Of Perseveration And Apathy In The Tdp-43Q331k Knock-In Mouse Model Of Als–Ftd, Eosu Kim, Matthew A. White, Benjamin U. Phillips, Laura Lopez-Cruz, Hyunjeong Kim, Christopher J. Heath, Jong Eun Lee, Lisa M. Saksida, Jemeen Sreedharan, Timothy J. Bussey

Brain and Mind Institute Researchers' Publications

© 2020, The Author(s). Perseveration and apathy are two of the most common behavioural and psychological symptoms of dementia (BPSDs) in amyotrophic lateral sclerosis–frontotemporal dementia (ALS–FTD). Availability of a validated and behaviourally characterised animal model is crucial for translational research into BPSD in the FTD context. We behaviourally evaluated the male TDP-43Q331K mouse, an ALS–FTD model with a human-equivalent mutation (TDP-43Q331K) knocked into the endogenous Tardbp gene. We utilised a panel of behavioural tasks delivered using the rodent touchscreen apparatus, including progressive ratio (PR), extinction and visual discrimination/reversal learning (VDR) assays to examine motivation, response inhibition and cognitive flexibility, respectively. …

Face Selective Patches In Marmoset Frontal Cortex, David J. Schaeffer, Janahan Selvanayagam, Kevin D. Johnston, Ravi S. Menon, Winrich A. Freiwald, Stefan Everling

Brain and Mind Institute Researchers' Publications

© 2020, The Author(s). In humans and macaque monkeys, socially relevant face processing is accomplished via a distributed functional network that includes specialized patches in frontal cortex. It is unclear whether a similar network exists in New World primates, who diverged ~35 million years from Old World primates. The common marmoset is a New World primate species ideally placed to address this question given their complex social repertoire. Here, we demonstrate the existence of a putative high-level face processing network in marmosets. Like Old World primates, marmosets show differential activation in anterior cingulate and lateral prefrontal cortices while they view …

Shared Functional Connectivity Between The Dorso-Medial And Dorso-Ventral Streams In Macaques, R. Stefan Greulich, Ramina Adam, Stefan Everling, Hansjörg Scherberger

Brain and Mind Institute Researchers' Publications

© 2020, The Author(s). Manipulation of an object requires us to transport our hand towards the object (reach) and close our digits around that object (grasp). In current models, reach-related information is propagated in the dorso-medial stream from posterior parietal area V6A to medial intraparietal area, dorsal premotor cortex, and primary motor cortex. Grasp-related information is processed in the dorso-ventral stream from the anterior intraparietal area to ventral premotor cortex and the hand area of primary motor cortex. However, recent studies have cast doubt on the validity of this separation in separate processing streams. We investigated in 10 male rhesus …

Neural Responses And Perceptual Sensitivity To Sound Depend On Sound-Level Statistics, Björn Herrmann, Thomas Augereau, Ingrid S. Johnsrude

Brain and Mind Institute Researchers' Publications

© 2020, The Author(s). Sensitivity to sound-level statistics is crucial for optimal perception, but research has focused mostly on neurophysiological recordings, whereas behavioral evidence is sparse. We use electroencephalography (EEG) and behavioral methods to investigate how sound-level statistics affect neural activity and the detection of near-threshold changes in sound amplitude. We presented noise bursts with sound levels drawn from distributions with either a low or a high modal sound level. One participant group listened to the stimulation while EEG was recorded (Experiment I). A second group performed a behavioral amplitude-modulation detection task (Experiment II). Neural activity depended on sound-level statistical …

A Novel Approach To Investigate Subcortical And Cortical Sensitivity To Temporal Structure Simultaneously, Sonia Yasmin, David W. Purcell, Sangamanatha A. Veeranna, Ingrid S. Johnsrude, Björn Herrmann

Brain and Mind Institute Researchers' Publications

Hearing loss is associated with changes at the peripheral, subcortical, and cortical auditory stages. Research often focuses on these stages in isolation, but peripheral damage has cascading effects on central processing, and different stages are interconnected through extensive feedforward and feedback projections. Accordingly, assessment of the entire auditory system is needed to understand auditory pathology. Using a novel stimulus paired with electroencephalography in young, normal-hearing adults, we assess neural function at multiple stages of the auditory pathway simultaneously. We employ click trains that repeatedly accelerate then decelerate (3.5 Hz click-rate-modulation) introducing varying inter-click-intervals (4 to 40 ms). We measured the …

Modeling An Auditory Stimulated Brain Under Altered States Of Consciousness Using The Generalized Ising Model, Sivayini Kandeepan, Jorge Rudas, Francisco Gomez, Bobby Stojanoski, Sree Ram Valluri, Adrian Mark Owen, Lorina Naci, Emily Sophia Nichols, Andrea Soddu

Brain and Mind Institute Researchers' Publications

Propofol is a short-acting medication that results in decreased levels of consciousness and is used for general anesthesia. Although it is the most commonly used anesthetic in the world, much remains unknown about the mechanisms by which it induces a loss of consciousness. Characterizing anesthesia-induced alterations to brain network activity might provide a powerful framework for understanding the neural mechanisms of unconsciousness. The aim of this work was to model brain activity in healthy brains during various stages of consciousness, as induced by propofol, in the auditory paradigm. We used the generalized Ising model (GIM) to fit the empirical fMRI …

Hyoscine Butylbromide Versus Acetaminophen For Nonspecific Colicky Abdominal Pain In Children: A Randomized Controlled Trial., Naveen Poonai, Kriti Kumar, Kamary Coriolano, Graham Thompson, Shaily Brahmbhatt, Emily Dzongowski, Holly Stevens, Priti Gupta, Michael Miller, Sharlene Elsie, Dhandapani Ashok, Gary Joubert, Rod Lim, Andreana Bütter, Samina Ali

Paediatrics Publications

BACKGROUND: Less than two-thirds of children with abdominal pain in the emergency department receive analgesia. We sought to determine whether hyoscine butylbromide was superior to acetaminophen for children with nonspecific colicky abdominal pain.

METHODS: We randomly allocated children aged 8-17 years with nonspecific colicky abdominal pain who presented to the pediatric emergency department of London Health Sciences Centre, London, Ontario to receive hyoscine butylbromide, 10 mg given orally, or acetaminophen, 15 mg/kg given orally (maximum 975 mg). We considered the minimal clinically important difference for the primary outcome (self-reported pain at 80 min) to be 13 mm on a 100 …

Optimization Of Multi-Electrode Implant Configurations And Programming For The Delivery Of Non-Ablative Electric Fields In Intratumoral Modulation Therapy., Erin Iredale, Andrew Deweyert, Douglas A Hoover, Jeff Z Chen, Susanne Schmid, Matthew O Hebb, Terry M Peters, Eugene Wong

Medical Biophysics Publications

PURPOSE: Application of low intensity electric fields to interfere with tumor growth is being increasingly recognized as a promising new cancer treatment modality. Intratumoral modulation therapy (IMT) is a developing technology that uses multiple electrodes implanted within or adjacent tumor regions to deliver electric fields to treat cancer. In this study, the determination of optimal IMT parameters was cast as a mathematical optimization problem, and electrode configurations, programming, optimization, and maximum treatable tumor size were evaluated in the simplest and easiest to understand spherical tumor model. The establishment of electrode placement and programming rules to maximize electric field tumor coverage …

Brain Metabolite Levels In Sedentary Women And Non-Contact Athletes Differ From Contact Athletes, Amy L. Schranz, Gregory A. Dekaban, Lisa Fischer, Kevin Blackney, Christy Barreira, Timothy J. Doherty, Douglas D. Fraser, Arthur Brown, Jeff Holmes, Ravi S. Menon, Robert Bartha

Brain and Mind Institute Researchers' Publications

White matter tracts are known to be susceptible to injury following concussion. The objective of this study was to determine whether contact play in sport could alter white matter metabolite levels in female varsity athletes independent of changes induced by long-term exercise. Metabolite levels were measured by single voxel proton magnetic resonance spectroscopy (MRS) in the prefrontal white matter at the beginning (In-Season) and end (Off-Season) of season in contact (N = 54, rugby players) and non-contact (N = 23, swimmers and rowers) varsity athletes. Sedentary women (N = 23) were scanned once, at a time equivalent to the Off-Season …

Structure Of Population Activity In Primary Motor Cortex For Single Finger Flexion And Extension, Spencer A. Arbuckle, Jeff Weiler, Eric A. Kirk, Charles L. Rice, Marc Schieber, J. Andrew Pruszynski, Naveed Ejaz, Jörn Diedrichsen

Brain and Mind Institute Researchers' Publications

Copyright © 2020 the authors How is the primary motor cortex (M1) organized to control fine finger movements? We investigated the population activity in M1 for single finger flexion and extension, using 7T functional magnetic resonance imaging (fMRI) in female and male human participants and compared these results to the neural spiking patterns recorded in two male monkeys performing the identical task. fMRI activity patterns were distinct for movements of different fingers, but were quite similar for flexion and extension of the same finger. In contrast, spiking patterns in monkeys were quite distinct for both fingers and directions, which is …

Cortico-Subcortical Functional Connectivity Profiles Of Resting-State Networks In Marmosets And Humans, Yuki Hori, David J. Schaeffer, Atsushi Yoshida, Justine C. Cléry, Lauren K. Hayrynen, Joseph S. Gati, Ravi S. Menon, Stefan Everling

Brain and Mind Institute Researchers' Publications

Copyright © 2020 the authors Understanding the similarity of cortico-subcortical networks topologies between humans and nonhuman primate species is critical to study the origin of network alternations underlying human neurologic and neuropsychiatric diseases. The New World common marmoset (Callithrix jacchus) has become popular as a nonhuman primate model for human brain function. Most marmoset connectomic research, however, has exclusively focused on cortical areas, with connectivity to subcortical networks less extensively explored. Here, we aimed to first isolate patterns of subcortical connectivity with cortical resting-state networks in awake marmosets using resting-state fMRI, then to compare these networks with those in humans …

Gender, Technology And Innovation In Health Care Panel, Melanie Katsivo

Africa-Western Collaborations Day 2020

8 graduate student/recent graduate presentations on gender, technology, and innovation in health care. Moderated by Dr. Melanie Katsivo. Reporting of panel done by current GHS students of the 2021 class. Abstracts can be found under "Africa-Western Collaborations Day 2020 Abstracts". Presenters as follows:

Florence Wullo Anfaara, "To Include or Not to Include: Men and the Liberian Women's Peace Hut Initiatives Towards Transformational Justice"

Uche Ikenyei, "Diversification of Research Methodological Approach During Model Enhancements in Health Information System Research"

Denise Kamyuka, "Female Social Entrepreneurship in Sport, in the African Context: Systemic Review"

Ebenezer Martin-Yeboah, "Through the Lens of Egocentric Design: Do …

Drug Therapy During Pregnancy., Dongmei Sun, Janine R. Hutson, Facundo Garcia-Bournissen Md Phd

Paediatrics Publications

No abstract provided.

Pathway-Extended Gene Expression Signatures Integrate Novel Biomarkers That Improve Predictions Of Patient Responses To Kinase Inhibitors, Ashis Jem Bagchee-Clark, Eliseos J. Mucaki, Tyson Whitehead, Peter Rogan

Biochemistry Publications

No abstract provided.

A Live-Online Mindfulness-Based Intervention For Children Living With Epilepsy And Their Families: Protocol For A Randomized Controlled Trial Of Making Mindfulness Matter©., Klajdi Puka, Karen Bax, Andrea Andrade, Margo Devries-Rizzo, Hema Gangam, Simon Levin, Maryam N Nouri, Asuri N Prasad, Mary Secco, Guangyong Zou, Kathy N Speechley

Paediatrics Publications

BACKGROUND: Epilepsy extends far beyond seizures; up to 80% of children with epilepsy (CWE) may have comorbid cognitive or mental health problems, and up to 50% of parents of CWE are at risk for major depression. Past research has also shown that family environment has a greater influence on children's and parents' health-related quality of life (HRQOL) and mental health than epilepsy-related factors. There is a pressing need for low-cost, innovative interventions to improve HRQOL and mental health for CWE and their parents. The aim of this randomized controlled trial (RCT) is to evaluate whether an interactive online mindfulness-based intervention …

Development, Reliability And Validity Of The Safe Use Of Mobility Aids Checklist (Sumac) For 4-Wheeled Walker Use In People Living With Dementia., Susan W. Hunter, Alison Divine, Humberto Omana, Ed Madou, Jeffrey Holmes

Physical Therapy Publications

BACKGROUND: Balance and gait problems are common and progressive in dementia. Use of a mobility aid provides physical support and confidence. Yet, mobility aid use in people with dementia increases falls three-fold. An assessment tool of mobility aid safety in people with dementia does not currently exist. The objectives of this study were: 1) to develop a tool for the evaluation of physical function and safe use of a 4-wheeled walker in people with dementia, and 2) to evaluate its construct and criterion validity, inter-rater and test-retest reliability and minimal detectable change.

METHODS: Healthcare professionals (HCP) experienced in rehabilitation of …

Neural Effects Of Oxytocin And Mimicry In Frontotemporal Dementia: A Randomized Crossover Study, Lindsay D. Oliver, Chloe Stewart, Kristy Coleman, James H. Kryklywy, Robert Bartha, Derek G.V. Mitchell, Elizabeth C. Finger

Medical Biophysics Publications

OBJECTIVE: To determine whether intranasal oxytocin, alone or in combination with instructed mimicry of facial expressions, would augment neural activity in patients with frontotemporal dementia (FTD) in brain regions associated with empathy, emotion processing, and the simulation network, as indexed by blood oxygen-level dependent (BOLD) signal during fMRI. METHODS: In a placebo-controlled, randomized crossover design, 28 patients with FTD received 72 IU intranasal oxytocin or placebo and then completed an fMRI facial expression mimicry task. RESULTS: Oxytocin alone and in combination with instructed mimicry increased activity in regions of the simulation network and in limbic regions associated with emotional expression …

Tp63-Mutation As A Cause Of Prenatal Lethal Multicystic Dysplastic Kidneys, Isabel Friedmann, Carla Campagnolo, Nancy Chan, Ghislain Hardy, Maha Saleh

Paediatrics Publications

BACKGROUND: Ectrodactyly-ectodermal dysplasia-clefting syndrome 3 (EEC) is one of the six overlapping syndromes caused by mutations in the tumor protein p63 gene (TP63). EEC is suspected when patients have cleft hands or feet, polydactyly, and syndactyly, abnormal development of the ectodermally derived structures, and orofacial clefting. Genitourinary (GU) anomalies have been identified in patients with EEC, yet these are often under-recognized and under-reported. The available literature on sonographic prenatal findings is sparse, especially when considering GU anomalies.

METHODS: We present the case of a male stillborn fetus, who was found antenatally to have multicystic dysplastic kidneys and anhydramnios. Following the …

A National Spinal Muscular Atrophy Registry For Real-World Evidence., Victoria L Hodgkinson, Maryam Oskoui, Joshua Lounsberry, Saïd M'Dahoma, Emily Butler, Craig Campbell, Alex Mackenzie, Hugh J Mcmillan, Louise Simard, Jiri Vajsar, Bernard Brais, Kristine M Chapman, Nicolas Chrestian, Meghan Crone, Peter Dobrowolski, Susan Dojeiji, James J Dowling, Nicolas Dupré, Angela Genge, Hernan Gonorazky, Simona Hasal, Aaron Izenberg, Wendy Johnston, Edward Leung, Hanns Lochmüller, Jean K Mah, Alier Marerro, Rami Massie, Laura Mcadam, Anna Mccormick, Michel Melanson, Michelle M Mezei, Cam-Tu E Nguyen, Colleen O'Connell, Erin K O'Ferrall, Gerald Pfeffer, Cecile Phan, Stephanie Plamondon, Chantal Poulin, Xavier Rodrigue, Kerri L Schellenberg, Kathy Selby, Jordan Sheriko, Christen Shoesmith, Garth Smith, Monique Taillon, Sean Taylor, Jodi Warman Chardon, Scott Worley, Lawrence Korngut

Paediatrics Publications

BACKGROUND: Spinal muscular atrophy (SMA) is a devastating rare disease that affects individuals regardless of ethnicity, gender, and age. The first-approved disease-modifying therapy for SMA, nusinursen, was approved by Health Canada, as well as by American and European regulatory agencies following positive clinical trial outcomes. The trials were conducted in a narrow pediatric population defined by age, severity, and genotype. Broad approval of therapy necessitates close follow-up of potential rare adverse events and effectiveness in the larger real-world population.

METHODS: The Canadian Neuromuscular Disease Registry (CNDR) undertook an iterative multi-stakeholder process to expand the existing SMA dataset to capture items …

A Novel Sting1 Variant Causes A Recessive Form Of Sting-Associated Vasculopathy With Onset In Infancy (Savi)., Bin Lin, Roberta Berard, Abdulrahman Al Rasheed, Buthaina Aladba, Philip J Kranzusch, Maggie Henderlight, Alexi Grom, Dana Kahle, Sofia Torreggiani, Alexander G Aue, Jacob Mitchell, Adriana A De Jesus, Grant S Schulert, Raphaela Goldbach-Mansky

Paediatrics Publications

No abstract provided.

Nurses’ Use Of Personal Smartphone Technology In The Workplace: Scoping Review, Andrea De Jong, Lorie Donelle, Michael Kerr

Nursing Publications

Background: There has been an increase in the technological infrastructures of many health care organizations to support the practice of health care providers. However, many nurses are using their personal digital devices, such as smartphones, while at work for personal and professional purposes. Despite the proliferation of smartphone use in the health care setting, there is limited research on the clinical use of these devices by nurses. It is unclear as to what extent and for what reasons nurses are using their personal smartphones to support their practice. Objective: This review aimed to understand the current breadth of research on …