Medical Specialties Commons^™

Examining The Correlates Of Adolescent Food And Nutrition Knowledge, Rachel Brown, Jamie A. Seabrook, Saverio Stranges, Andrew F. Clark, Jess Haines, Colleen O’Connor, Sean Doherty, Jason A. Gilliland

Paediatrics Publications

Food literacy is a set of skills and knowledge that are integral to diet. It is common among teenagers to not have basic food literacy skills needed to consume a healthy diet. This study examined: (1) the current state of food and nutrition knowledge among adolescents 13–19 years of age in the census metropolitan area of London, ON, Canada; and (2) correlates of food knowledge and nutrition knowledge among adolescents. Data for this study were drawn from baseline youth and parent survey data collected from a larger population health intervention study. Statistical analysis of the survey data indicates that higher …

Translating Developmental Origins Of Health And Disease In Practice: Health Care Providers' Perspectives., Monica L Molinaro, Marilyn Evans, Timothy Regnault, Barbra De Vrijer

Paediatrics Publications

Currently, there is limited knowledge on how health care providers perceive and understand the Developmental Origins of Health and Disease (DOHaD), which may impact how they inform patients and their families throughout the perinatal period. This qualitative descriptive study explored if and how health care providers counsel on in utero programming and future health outcomes with parents, both preconception and during pregnancy. One-on-one, semi-structured interviews were conducted with 23 health care providers from varying health disciplines including obstetrics and gynaecology, midwifery, paediatrics, endocrinology and internal medicine. Audiotaped interviews were transcribed verbatim and analysed using inductive thematic analysis. Three themes were …

Biopharmaceutical Characteristics Of Nifurtimox Tablets For Age- And Body Weight-Adjusted Dosing In Patients With Chagas Disease., Heino Stass, Ethel Feleder, Facundo Garcia-Bournissen, Johannes Nagelschmitz, Boris Weimann, Gustavo Yerino, Jaime Altcheh

Paediatrics Publications

Treatment of Chagas disease with nifurtimox requires age- and body weight-adjusted dosing, resulting in complex dosing instructions. Appropriate formulations are needed for precise and compliant dosing, especially in pediatric patients. We characterized the biopharmaceutical features of a standard nifurtimox 120-mg tablet and a 30-mg tablet developed to improve dose accuracy. Two open-label, randomized crossover studies were conducted in adult outpatients with Chagas disease. One study investigated whether 4 × 30-mg tablets and 1 × 120-mg tablet were bioequivalent and whether tablets can be administered as an aqueous slurry without affecting bioavailability. The second study investigated the effect of a high-calorie/high-fat …

Risk Factors For Re-Hospitalization Following Neonatal Discharge Of Extremely Preterm Infants In Canada, Zakariya Bambala Puthattayil, Thuy Mai Luu, Marc Beltempo, Shannon Cross, Thevanisha Pillay, Marilyn Ballantyne, Anne Synnes, Prakesh Shah, Thierry Daboval

Paediatrics Publications

Objective: Survivors of extremely preterm birth are at risk of re-hospitalization but risk factors in the Canadian population are unknown. Our objective is to identify neonatal, sociodemographic, and geographic characteristics that predict re-hospitalization in Canadian extremely preterm neonates. Methods: This is a retrospective analysis of a prospective observational cohort study that included preterm infants born 22 to 28 weeks’ gestational age from April 1, 2009 to September 30, 2011 and seen at 18 to 24 months corrected gestational age in a Canadian Neonatal Follow-Up Network clinic. Characteristics of infants re-hospitalized versus not re-hospitalized are compared. The potential neonatal, sociodemographic, and …

Timing Of Cgm Initiation In Pediatric Diabetes: The Cgm Time Trial., Margaret L Lawson, Kate C Verbeeten, Jennilea M Courtney, Brenda J Bradley, Karen Mcassey, Cheril Clarson, Susan Kirsch, Jacqueline R Curtis, Farid H Mahmud, Christine Richardson, Tammy Cooper, Jason Chan, Ken Tang

Paediatrics Publications

OBJECTIVE: To determine whether timing of CGM initiation offering low glucose suspend (LGS) affects CGM adherence in children and youth starting insulin pump therapy.

METHODS: A 5-site RCT of pump-naïve subjects (aged 5-18 years) with type 1 diabetes (T1D) for at least 1 year compared simultaneous pump and CGM initiation offering LGS vs standard pump therapy with CGM initiation delayed for 6 months. Primary outcome was CGM adherence (hours per 28 days) (MiniMed™ Paradigm™ Veo™ system; CareLink Pro™ software) over 6 months after CGM initiation. Secondary outcome HbA1c was measured centrally. Linear mixed-models and ordinary least squares models were fitted …

Improving Access And Mental Health For Youth Using Smart Technologies, Cheryl Forchuk, Sandra Fisman, Jeffrey P. Reiss, Kerry Collins, Julie Eichstedt, Abraham Rudnick, Wanrudee Isaranuwatchai, Jeffrey S. Hoch, Xianbin Wang, Daniel Lizotte, Shona Macpherson, Richard Booth

Paediatrics Publications

The overall objective of this research is to evaluate the use of a mobile health smartphone application (app) to improve the mental health of youth between the ages of 14 and 25 years, with symptoms of anxiety and/or depression. This project includes 122 youth who are accessing outpatient mental health services at one of three hospitals and two community agencies. The youth and care providers are using the Smart technology to enhance care. The technology uses mobile questionnaires (QnairesTM) to help promote self-assessment and track changes to support the plan of care. The youth were provided a smartphone and talk/text/data …

Process Evaluation Of Fruit And Vegetables Distribution Interventions In School-Based Settings: A Systematic Review, Mariam R. Ismail, Jamie A. Seabrook, Jason A. Gilliland

Paediatrics Publications

Despite the importance of process evaluation in program evaluations, research has focused primarily on the effectiveness of fruit and vegetables (FVs) distribution interventions on children's consumption, with little attention given to how these interventions achieve their outcomes. Five bibliographic databases (Embase, PubMed, ProQuest, Scopus, and Web of Science Core Collection) were searched in June 2019 for studies of interventions where the main focus was the implementation of distributed FVs to school-aged children as a snack. The Critical Appraisal Skills Programme (CASP) tool was used to appraise the risk of bias within included studies. Data were extracted based on study characteristics …

Defining The Genotypic And Phenotypic Spectrum Of X-Linked Msl3-Related Disorder, Theresa Brunet, Kirsty Mcwalter, Katharina Mayerhanser, Grace M Anbouba, Amy Armstrong-Javors, Ingrid Bader, Evan Baugh, Amber Begtrup, Caleb P Bupp, Bert L Callewaert, Anna Cereda, Margot A Cousin, Juan C Del Rey Jimenez, Laurie Demmer, Nikita R Dsouza, Nicole Fleischer, Ralitza H Gavrilova, Sumedha Ghate, Elisabeth Graf, Andrew Green, Sarah R Green, Maria Iascone, Ameni Kdissa, Dirk Klee, Eric W Klee, Emily Lancaster, Kristin Lindstrom, Johannes A Mayr, Meriel Mcentagart, Naomi J L Meeks, Dana Mittag, Harrison Moore, Anne K Olsen, Damara Ortiz, Gretchen Parsons, Loren D M Pena, Richard E Person, Sumit Punj, Gonzalo Alonso Ramos-Rivera, Maria J Guillen Sacoto, G Bradley Schaefer, Rhonda E Schnur, Tiana M Scott, Daryl A Scott, Carolyn R Serbinski, Vandana Shashi, Victoria Mok Siu, Barbro Fossøy Stadheim, Jennifer A Sullivan, Jana Švantnerová, Lea Velsher, David S Wargowski, Ingrid M Wentzensen, Dagmar Wieczorek, Juliane Winkelmann, Patrick Yap, Michael Zech, Michael T Zimmermann, Thomas Meitinger, Felix Distelmaier, Matias Wagner

Paediatrics Publications

PURPOSE: We sought to delineate the genotypic and phenotypic spectrum of female and male individuals with X-linked, MSL3-related disorder (Basilicata-Akhtar syndrome).

METHODS: Twenty-five individuals (15 males, 10 females) with causative variants in MSL3 were ascertained through exome or genome sequencing at ten different sequencing centers.

RESULTS: We identified multiple variant types in MSL3 (ten nonsense, six frameshift, four splice site, three missense, one in-frame-deletion, one multi-exon deletion), most proven to be de novo, and clustering in the terminal eight exons suggesting that truncating variants in the first five exons might be compensated by an alternative MSL3 transcript. Three-dimensional modeling of …

Moyamoya Syndrome In An Infant With Aicardi-Goutières And Williams Syndromes: A Case Report, Jagraj S. Brar, Rahul Verma, Mohammed Al-Omari, Victoria M. Siu, Andrea V. Andrade, Michael T. Jurkiewicz, Saptharishi Lalgudi Ganesan

Paediatrics Publications

Stroke in infancy is a rare phenomenon but can lead to significant long-term disability. We present the story of a 6-month-old Old Order Amish infant with underlying Williams syndrome, a rare neurodevelopmental disorder caused by a microdeletion, encompassing the elastin gene that produces abnormalities in elastic fibers of the lungs and vessels. This infant presented with lethargy, irritability, and a new-onset generalized tonic-clonic seizure. Brain magnetic resonance imaging (MRI) was consistent with ischemic stroke in the supratentorial regions. MR angiogram demonstrated bilateral narrowing of the internal carotid arteries with ivy sign, suggestive of Moyamoya. Moyamoya disease/syndrome is a cerebrovascular condition …

Pannexin 1 Binds Β-Catenin To Modulate Melanoma Cell Growth And Metabolism, Samar Sayedyahossein, Kenneth Huang, Zhigang Li, Christopher Zhang, Alexandra M. Kozlov, Danielle Johnston, Daniel Nouri-Nejad, Lina Dagnino, Dean H. Betts, David B. Sacks, Silvia Penuela

Paediatrics Publications

Melanoma is the most aggressive skin malignancy with increasing incidence worldwide. Pannexin1 (PANX1), a member of the pannexin family of channel-forming glycoproteins, regulates cellular processes in melanoma cells including proliferation, migration, and invasion/metastasis. However, the mechanisms responsible for coordinating and regulating PANX1 function remain unclear. Here, we demonstrated a direct interaction between the C-terminal region of PANX1 and the N-terminal portion of β-catenin, a key transcription factor in the Wnt pathway. At the protein level, β-catenin was significantly decreased when PANX1 was either knocked down or inhibited by two PANX1 blockers, Probenecid and Spironolactone. Immunofluorescence imaging showed a disrupted pattern …

Examining How Children's Gender Influences Parents’ Perceptions Of The Local Environment And Their Influence On Children's Independent Mobility, Alina Medeiros, Andrew F. Clark, Gina Martin, Jamie A. Seabrook, Jason Gilliland

Paediatrics Publications

Physical inactivity among children is a public health concern. Children's ability to travel independently is associated with increased physical activity and social connectedness. Consequently, it is concerning that children's independent mobility has decreased in recent years. Studies have highlighted that rates of independent mobility vary by gender; this study analyzed how correlates of independent mobility vary between boys (n = 476) and girls (n = 618) attending 32 elementary schools in Southwestern Ontario. Hierarchical logistic regression modeling methods were used. All analyzes were stratified by gender. For boys, age was negatively associated with travel with peers. Having one or more …

Correlates Of Lifetime And Past Month Vape Use In A Sample Of Canadian University Students, Jamie A. Seabrook, Jasna Twynstra, Jason A. Gilliland

Paediatrics Publications

Introduction: This study examines correlates of lifetime (ie, ever vaped) and past month vape use among students aged 17 to 19 years, 20 to 25 years, and 26+ years from Western University in London, Ontario. The secondary objective is to assess lifetime and past month vape use among students not of legal age to purchase vaping products in Ontario (ie, those 17 to 18 years only). Methods: Using Qualtrics, a cross-sectional survey was sent via email to all students at Western University (N = 38 442), assessing their current and past risk-taking behaviors, mental health, sociodemographic characteristics, as well as …

The Quantity And Composition Of Household Food Waste During The Covid-19 Pandemic: A Direct Measurement Study In Canada, Haley Everitt, Paul Van Der Werf, Jamie A. Seabrook, Alexander Wray, Jason A. Gilliland

Paediatrics Publications

The COVID-19 pandemic may have amplified the environmental, social, and economic implications of household food waste. A better understanding of household food wasting during the pandemic is needed to improve the management of waste and develop best practices for municipal waste management programs under crisis circumstances. A waste composition study was undertaken with 100 single-family households across the city of London, Ontario, Canada to determine the quantity and composition of household food waste disposed in June 2020, during the first wave of the COVID-19 pandemic. This study examines how household demographic, socioeconomic, and neighbourhood food environment characteristics influence household food …

Examining How Changes In Provincial Policy On Vape Marketing Impacted The Distribution Of Vaping Advertisements Near Secondary Schools In London, Ontario, Gina Martin, Drew D. Bowman, Megan Graat, Andrew F. Clark, Alexander J. Wray, Zoe Askwith, Jamie A. Seabrook, Jason A. Gilliland

Paediatrics Publications

Objectives: On January 1, 2020, the Government of Ontario passed a regulation banning vaping advertisements by retailers, apart from specialty shops. A motivation for this ban was to limit youth exposure to vaping advertisements. The primary goal of this research was to evaluate the impact of this ban on the number and density of vaping advertisements surrounding secondary schools. Additionally, we examined whether the number of vaping advertisements varied by school socio-demographic characteristics. Methods: This study used a pre-post design. Audits were conducted December 2019 (pre-ban) and again January to February 2020 (post-ban), to identify vaping advertisements within 800 m …

Sensitivity Of Arterial Spin Labeling For Characterization Of Longitudinal Perfusion Changes In Frontotemporal Dementia And Related Disorders, Tracy Ssali, Udunna C. Anazodo, Lucas Narciso, Linshan Liu, Sarah Jesso, Lauryn Richardson, Matthias Günther, Simon Konstandin, Klaus Eickel, Frank Prato, Elizabeth Finger, Keith St. Lawrence

Paediatrics Publications

Background: Advances in the understanding of the pathophysiology of frontotemporal dementia (FTD) and related disorders, along with the development of novel candidate disease modifying treatments, have stimulated the need for tools to assess the efficacy of new therapies. While perfusion imaging by arterial spin labeling (ASL) is an attractive approach for longitudinal imaging biomarkers of neurodegeneration, sources of variability between sessions including arterial transit times (ATT) and fluctuations in resting perfusion can reduce its sensitivity. Establishing the magnitude of perfusion changes that can be reliably detected is necessary to delineate longitudinal perfusion changes related to disease processes from the effects …

Transcriptional Profiling Of Leukocytes In Critically Ill Covid19 Patients: Implications For Interferon Response And Coagulation, Sean E Gill, Claudia C Dos Santos, David B O'Gorman, David E Carter, Eric K Patterson, Marat Slessarev, Claudio Martin, Mark Daley, Michael R. Miller, Gediminas Cepinskas, Douglas Fraser

Paediatrics Publications

BACKGROUND: COVID19 is caused by the SARS-CoV-2 virus and has been associated with severe inflammation leading to organ dysfunction and mortality. Our aim was to profile the transcriptome in leukocytes from critically ill patients positive for COVID19 compared to those negative for COVID19 to better understand the COVID19-associated host response. For these studies, all patients admitted to our tertiary care intensive care unit (ICU) suspected of being infected with SARS-CoV-2, using standardized hospital screening methodologies, had blood samples collected at the time of admission to the ICU. Transcriptome profiling of leukocytes via ribonucleic acid sequencing (RNAseq) was then performed and …

Automated Office Blood Pressure Measurement For The Diagnosis Of Hypertension, Guido Filler, Maria E Díaz-González De Ferris

Paediatrics Publications

Editorial

Parental Psychosocial Aspects And Stressors Involved In The Management Of Inborn Errors Of Metabolism., Prashanth Rajasekar, Srinitya Gannavarapu, Melanie Napier, Asuri N Prasad, Akshya Vasudev, Andrew Mantulak, Beth K Potter, Chitra Prasad

Paediatrics Publications

Parents of children with inborn errors of metabolism (IEM) face numerous psychosocial challenges. An increased understanding and awareness of these stressors can ensure better overall outcomes for the entire family. We conducted semi-structured, in-person interviews with ten parents to identify psychosocial stressors, strategies, and supports they utilized to overcome their challenges. Our interview guide was designed to elicit familial experiences during the pre- and post-diagnosis periods. The themes and sub-themes were identified through qualitative descriptive textual analysis of audio-recorded transcripts. Major themes identified include ambiguity of illness, changing family and spousal dynamics, and navigating the healthcare system. Sub-themes revolved around …

Survival Benefit For Individuals With Constitutional Mismatch Repair Deficiency Syndrome And Brain Tumors Who Undergo Surveillance Protocol. A Report From The International Replication Repair Consortium, Ayse Bahar Ercan, Carol Durno, Vanessa J. Bianchi, Melissa Edwards, Melyssa Aronson, Eric Bouffet, Abeer Al-Battashi, Musa Alharbi, Donald Basel, Elizabeth Cairney

Paediatrics Publications

BACKGROUND

Constitutional mismatch repair deficiency syndrome (CMMRD) is a severe cancer predisposition syndrome resulting in early onset central nervous system (CNS) and other cancers. International guidelines for surveillance exist but no study has systematically evaluated the efficacy of this protocol. METHODS

We surveyed all confirmed CMMRD patients in the International Replication Repair Deficiency Consortium. A surveillance protocol consisting of frequent biochemical, endoscopic and imaging (CNS and total body MRI) studies were employed. Survival analyses and efficacy of each method were assessed. RESULTS

Surveillance data were collected from 105 CMMRD individuals from 41 countries. Of the 193 malignant tumors, CNS malignancies …

Frameshift Mutations At The C-Terminus Of Hist1h1e Result In A Specific Dna Hypomethylation Signature, A. Ciolfi, E. Aref-Eshghi, S. Pizzi, L. Pedace, E. Miele, J. Kerkhof, E. Flex, S. Martinelli, F.C. Radio, C.A.L Ruivenkamp, G.W.E. Santen, E.K. Bijlsma, D.Q.C.M. Barge-Schaapveld, K. Ounap, V. Mok Siu, F. F. Kooy, B. Dallapiccola, B. Sadikovic, M. Tartaglia

Paediatrics Publications

No abstract provided.

Isolated Sulfite Oxidase Deficiency: A Founder Mutation., Aizeddin A Mhanni, Cheryl R Greenberg, Elizabeth L Spriggs, Ronald Agatep, Reena Ray Sisk, Chitra Prasad

Paediatrics Publications

Isolated sulfite oxidase deficiency is a rare autosomal recessive inborn error of sulfur metabolism. Clinical features generally include devastating neurologic dysfunction, ectopia lentis, and increased urinary excretion of sulfite, thiosulfate, and

Five-Month-Old Male With Chronic Diarrhea., Hailey C Barootes, Erin R Peebles, Dhandapani Ashok, Suzanne Ratko, Andrea C Yu

Paediatrics Publications

No abstract provided.

Lactate Preconditioning Promotes A Hif-1Α-Mediated Metabolic Shift From Oxphos To Glycolysis In Normal Human Diploid Fibroblasts, Alexandra M. Kozlov, Asad Lone, Dean H. Betts, Robert C. Cumming

Paediatrics Publications

Recent evidence has emerged that cancer cells can use various metabolites as fuel sources. Restricting cultured cancer cells to sole metabolite fuel sources can promote metabolic changes leading to enhanced glycolysis or mitochondrial OXPHOS. However, the efect of metabolite-restriction on non-transformed cells remains largely unexplored. Here we examined the efect of restricting media fuel sources, including glucose, pyruvate or lactate, on the metabolic state of cultured human dermal fbroblasts. Fibroblasts cultured in lactate-only medium exhibited reduced PDH phosphorylation, indicative of OXPHOS, and a concurrent elevation of ROS. Lactate exposure primed fbroblasts to switch to glycolysis by increasing transcript abundance of …

Machine Learning Identifies Clinical And Genetic Factors Associated With Anthracycline Cardiotoxicity In Pediatric Cancer Survivors, Marie-A Chaix, Neha Parmar, Caroline Kinnear, Myriam Lafreniere-Roula,, Oyediran Akinrinade, Roderick Yao, Anastasia Miron, Emily Lam, Guoliang Meng, Anne Christie, Ashok Kumar Manickaraj, Stacey Marjerrison, Rejane Dillenburg, Mylène Bassal, Jane Lougheed, Shayna Zelcer, Herschel Rosenberg, David Hodgson, Leonard Sender, Paul Kantor, Cedric Manlhiot, James Ellis, Luc Mertens, Paul C. Nathan, Seema Mital

Paediatrics Publications

BACKGROUND Despite known clinical risk factors, predicting anthracycline cardiotoxicity remains challenging. OBJECTIVES This study sought to develop a clinical and genetic risk prediction model for anthracycline cardiotoxicity in childhood cancer survivors. METHODS We performed exome sequencing in 289 childhood cancer survivors at least 3 years from anthracycline exposure. In a nested case-control design, 183 case patients with reduced left ventricular ejection fraction despite low-dose doxorubicin (<= 250 mg/m(2)), and 106 control patients with preserved left ventricular ejection fraction despite doxorubicin >250 mg/m(2) were selected as extreme phenotypes. Rare/low-frequency variants were collapsed to identify genes differentially enriched for variants between case patients and control patients. The expression levels of 5 top-ranked genes were evaluated in …

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 …

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

Paediatrics 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 …

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.