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Sociodemographic Factors And The Risk Of Paediatric Out-Of-Hospital Cardiac Arrest, Samina Idrees

Electronic Thesis and Dissertation Repository

Paediatric out-of-hospital cardiac arrest (POHCA) is associated with poor survival and severe neurological sequelae. This thesis aims to explore the relationship between sociodemographic factors and POHCA. The findings from our systematic review indicate that there are racial disparities in POHCA risk and in the provision of bystander cardiopulmonary resuscitation. There was little evidence of sociodemographic disparities in bystander defibrillation, survival and neurological outcome, particularly across adjusted analyses. The findings from our case-control study in Ontario, Canada, indicate that children living in marginalized areas have an elevated risk of experiencing POHCA. We also found that children living in northern urban or …

Maturation Of Default Mode Network Functional Connectivity Strength In Utero And The Association With Subcortical Macrostructure: Mapping Brain Ontogeny Supporting Early Cognitive Processing, Susana Correa

Electronic Thesis and Dissertation Repository

The third trimester of gestation is scarcely studied despite this being a key window for the development of learning and memory systems. In a prospective cohort study, 30 pregnant women participated in one or two fetal MR imaging sessions between 28- and 39 weeks of gestational age. Activation time courses were extracted from the default mode (DMN), medial temporal lobe (MTL), and thalamocortical (TCN) networks of the fetal brain. Generalized estimating equations were used to examine the association between the DMN-MTL, DMN-TCV connectivity strength, and subcortical volumes. Increased functional connectivity strength between the DMN-MTL networks was negatively associated with smaller …

Sex-Specific Alterations In Hepatic Cholesterol Metabolism In Low Birth Weight Adult Guinea Pigs., Ousseynou Sarr, Katherine E Mathers, Christina Vanderboor, Kristina Wiggers, Aditya Devgan, Daniel B Hardy, Lin Zhao, Timothy Regnault

Paediatrics Publications

BACKGROUND: Intrauterine growth restriction and low birth weight (LBW) have been widely reported as an independent risk factor for adult hypercholesterolaemia and increased hepatic cholesterol in a sex-specific manner. However, the specific impact of uteroplacental insufficiency (UPI), a leading cause of LBW in developed world, on hepatic cholesterol metabolism in later life, is ill defined and is clinically relevant in understanding later life liver metabolic health trajectories.

METHODS: Hepatic cholesterol, transcriptome, cholesterol homoeostasis regulatory proteins, and antioxidant markers were studied in UPI-induced LBW and normal birth weight (NBW) male and female guinea pigs at 150 days.

RESULTS: Hepatic free and …

Parental Perspectives On The Transfer Process For Critically Ill Children, Saoirse Cameron, Anna C. Gunz

Paediatrics Publications

Objective: To understand parental stressors and identify potential stress-mitigators during interfacility transfer of critically ill children. Methods: Descriptive qualitative multi-case study using semi-structured interviews. This study involved caregivers of patients admitted to the Paediatric Critical Care Unit at Children’s Hospital, London Health Sciences Centre transported from outlying hospitals. Study participants were recruited through purposeful sampling. Interviews were recorded, transcribed verbatim and manually de-identified. Coding was performed by two independent coders using a standard method of content analysis to identify common themes. Results: Themes were identified and reached saturation after twelve interviews were completed. Children were admitted primarily from Northwestern and …

Cervicofacial Actinomycosis In The Pediatric Population: Presentation And Management, Karan Gandhi, Benjamin D. Van Der Woerd, M. Elise Graham, Michelle Barton, Julie E. Strychowsky

Paediatrics Publications

Background: Infection caused by Actinomyces species is a rare cause of head and neck infection in children. This chronic cervicofacial infection can present with localized swelling, abscess formation, sinus drainage and can be complicated by osteomyelitis. Methods: Presented are 2 pediatric cases of secondary actinomycosis in the context of congenital lesions: 1 patient with a previously excised preauricular sinus and another with a persistent sublingual mass. A comprehensive literature search was conducted for reported cases of pediatric actinomycosis in the cervicofacial region. Results: Both cases presented were successfully treated with a combination of complete surgical excision of the lesions and …

School-Level Perspectives Of The Ontario School Nutrition Program, Mariam R. Ismail, Jason A. Gilliland, June I. Matthews, Danielle S. Battram

Paediatrics Publications

The purpose of this study was to assess the implementation of a school snack program for children in elementary schools. School-level program volunteers’ experiences were explored using semi-structured interviews. Fieldnotes were taken during on-site school visits. Quantitative data were collected through a General Information Form and Weekly Logbooks. Seven elementary schools in Southwestern Ontario were invited and agreed to participate. Interviews (n = 27) revealed that volunteers valued the program for its universality, the excitement it created, the opportunity for students to try new foods, and the social interactions that it generated. Challenges included the burden on snack volunteers to …

Heterogeneity Of Diabetes: B-Cells, Phenotypes, And Precision Medicine: Proceedings Of An International Symposium Of The Canadian Institutes Of Health Research’S Institute Of Nutrition, Metabolism And Diabetes And The U.S. National Institutes Of Health’S National Institute Of Diabetes And Digestive And Kidney Diseases, William T. Cefalu, Dana K. Andersen, Guillermo Arreaza-Rubín, Christopher L. Pin, Sheryl Sato, C. Bruce Verchere, Minna Woo, Norman D. Rosenblum

Paediatrics Publications

One hundred years have passed since the discovery of insulin—an achievement that transformed diabetes from a fatal illness into a manageable chronic condition. The decades since that momentous achievement have brought ever more rapid innovation and advancement in diabetes research and clinical care. To celebrate the important work of the past century and help to chart a course for its continuation into the next, the Canadian Institutes of Health Research’s Institute of Nutrition, Metabolism and Diabetes and the U.S. National Institutes of Health’s National Institute of Diabetes and Digestive and Kidney Diseases recently held a joint international symposium, bringing together …

A Million Is More Than A Thousand: Children's Acquisition Of Very Large Number Words, Pierina Cheung, Daniel Ansari

Paediatrics Publications

Very large numbers words such as “hundred,” “thousand,” “million,” “billion,” and “trillion” pose a learning problem for children because they are sparse in everyday speech and children's experience with extremely large quantities is scarce. In this study, we examine when children acquire the relative ordering of very large number words as a first step toward understanding their acquisition. In Study 1, a hundred and twenty-five 5–8-year-olds participated in a verbal number comparison task involving very large number words. We found that children can judge which of two very large numbers is more as early as age 6, prior to entering …

Frequency Of Diabetes Team Contacts In Children And Adolescents Using Insulin Pumps, Funmbi T. Babalola, Michael R. Miller, Andrea R. Ens, Robert I. Stein, Patricia H. Gallego, Cheril L. Clarson

Paediatrics Publications

Background: The purpose of this study is to assess if a relationship exists between A1c within target (≤ 7.5%) and frequency of patient-initiated contact with diabetes team, in children with type 1 diabetes (T1DM) on an insulin pump. Additionally, to determine factors impacting frequency of contact. Methods: This was a retrospective study of children with T1DM on an insulin pump. Frequency of contact, type of contact, and A1c were collected. Study participants filled out a questionnaire at study entry. Results: One hundred and seventy-six participants were enrolled, with a mean age of 13 years. The median duration of T1DM was …

The 2021 Eurpean Alliance Of Associations For Rheumatology/American College Of Rheumatology Points To Consider For Diagnosis And Management Of Autoinflammatory Type I Interferonopathies: Candle/Praas, Savi And Ags, Kader Cetin Gedik, Lovro Lamot, Micol Romano, Erkan Demirkaya, David Piskin, Sofia Torreggiani, Laura A. Adang, Thais Armangue, Kathe Barchus, Devon R. Cordova, Yanick J. Crow, Russell C. Dale, Karen L. Durrant, Despina Eleftheriou, Elisa M. Fazzi, Marco Gattorno, Francesco Gavazzi, Eric P. Hanson, Min Ae Lee-Kirsch, Gina A. Montealegre Sanchez, Bénédicte Neven, Simona Orcesi, Seza Ozen, M. Cecilia Poli, Elliot Schumacher, Davide Tonduti, Katsiaryna Uss, Daniel Aletaha, Brian M. Feldman

Paediatrics Publications

Objective: Autoinflammatory type I interferonopathies, chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature/proteasome-associated autoinflammatory syndrome (CANDLE/PRAAS), stimulator of interferon genes (STING)-associated vasculopathy with onset in infancy (SAVI) and Aicardi-Goutières syndrome (AGS) are rare and clinically complex immunodysregulatory diseases. With emerging knowledge of genetic causes and targeted treatments, a Task Force was charged with the development of 'points to consider' to improve diagnosis, treatment and long-term monitoring of patients with these rare diseases. Methods: Members of a Task Force consisting of rheumatologists, neurologists, an immunologist, geneticists, patient advocates and an allied healthcare professional formulated research questions for a systematic literature …

Parents’ Report Of Canadian Elementary School Children’S Physical Activity And Screen Time During The Covid-19 Pandemic: A Longitudinal Study, Emma Ostermeier, Patricia Tucker, Andrew Clark, Jamie A. Seabrook, Jason Gilliland

Paediatrics Publications

COVID-19 public health protocols have altered children’s daily routines, limiting their physical activity opportunities. The purpose of this study was to examine how the COVID-19 pandemic affected children’s (ages 10–12 years) physical activity and screen time, and to explore the impact of gender, socioeconomic status (SES), and public health constraints (i.e., facility use and social interaction) on the changes in children’s health behaviors. Online surveys were disseminated to parents at two time points: before COVID-19 (May 2019 to February 2020) and during COVID-19 (November to December 2020). Wilcoxon signed-rank tests were used to assess changes in physical activity and screen …

Choosing Wisely Canada – Pediatric Otolaryngology Recommendations, Mitchell Mcdonough, Kalpesh Hathi, Gerard Corsten, Christopher J. Chin, Paolo Campisi, Jonathan Cavanagh, Neil Chadha, M. Elise Graham, Murad Husein, Liane B. Johnson, Jodi Jones, Bruce Korman, John Manoukian, Lily H.P. Nguyen, Doron D. Sommer, Julie Strychowsky, Trina Uwiera, Warren Yunker, Paul Hong

Paediatrics Publications

The Choosing Wisely Canada campaign raises awareness amongst physicians and patients regarding unnecessary or inappropriate tests and treatments. Using an online survey, members of the Pediatric Otolaryngology Subspecialty Group within the Canadian Society of Otolaryngology – Head & Neck Surgery developed a list of nine evidence based recommendations to help physicians and patients make treatment decisions regarding common pediatric otolaryngology presentations: (1) Don’t routinely order a plain film x-ray in the evaluation of nasal fractures; (2) Don’t order imaging to distinguish acute bacterial sinusitis from an upper respiratory infection; (3) Don’t place tympanostomy tubes in most children for a single …

Health Concerns Of Adolescents And Adults With Spina Bifida, Jessica Starowicz, Caitlin Cassidy, Laura Brunton

Paediatrics Publications

Due to advancements in medical care, people with spina bifida (SB) are surviving well into adulthood, resulting in a growing number of patients transitioning to an adult sector unequipped to care for people with chronic rehabilitative and medical needs. The Transitional and Lifelong Care (TLC) program is a multidisciplinary clinical service that compensates for this gap, providing comprehensive, coordinated care to adolescents, and adults with SB. As a relatively new clinical service, objective data about the patients using the service and their needs is scant. This study sought to identify the most common health concerns among TLC patients with SB …

Β2 Integrin Cd11d/Cd18: From Expression To An Emerging Role In Staged Leukocyte Migration, Eoin N. Blythe, Lynne C. Weaver, Arthur Brown, Gregory A. Dekaban

Paediatrics Publications

CD11d/CD18 is the most recently discovered and least understood β2 integrin. Known CD11d adhesive mechanisms contribute to both extravasation and mesenchymal migration – two key aspects for localizing peripheral leukocytes to sites of inflammation. Differential expression of CD11d induces differences in monocyte/macrophage mesenchymal migration including impacts on macrophage sub-set migration. The participation of CD11d/CD18 in leukocyte localization during atherosclerosis and following neurotrauma has sparked interest in the development of CD11d-targeted therapeutic agents. Whereas the adhesive properties of CD11d have undergone investigation, the signalling pathways induced by ligand binding remain largely undefined. Underlining each adhesive and signalling function, CD11d is under …

In Vivo Magnetic Resonance Spectroscopy Of Hyperpolarized [1-, Lauren M Smith, Conrad B Pitts, Lanette J Friesen-Waldner, Neetin H Prabhu, Katherine E Mathers, Kevin J Sinclair, Trevor P Wade, Timothy Regnault, Charles A Mckenzie

Paediatrics Publications

BACKGROUND: Alterations in glycolysis are central to the increasing incidence of non-alcoholic fatty liver disease (NAFLD), highlighting a need for in vivo, non-invasive technologies to understand the development of hepatic metabolic aberrations.

PURPOSE: To use hyperpolarized magnetic resonance spectroscopy (MRS) and proton density fat fraction (PDFF) magnetic resonance imaging (MRI) techniques to investigate the effects of a chronic, life-long exposure to the Western diet (WD) in an animal model resulting in NAFLD; to investigate the hypothesis that exposure to the WD will result in NAFLD in association with altered pyruvate metabolism.

STUDY TYPE: Prospective.

ANIMAL MODEL: Twenty-eight male guinea pigs …

The Mental Well-Being And Coping Strategies Of Canadian Adolescents During The Covid-19 Pandemic: A Qualitative, Cross-Sectional Study, Kendra Nelson Ferguson, Stephanie E. Coen, Danielle Tobin, Gina Martin, Jamie A. Seabrook, Jason A. Gilliland

Paediatrics Publications

BACKGROUND: Qualitative research is lacking on the mental well-being of adolescents during the COVID-19 pandemic. The aim of this study was to explore the feelings and emotions adolescents experienced during the first wave of the COVID-19 pandemic and the coping strategies they identified and employed to manage those emotions. METHODS: Participants living in Canada aged 13-19 years were recruited through social media platforms and youth-serving organizations. Qualitative data were gathered from 2 open-ended questions included in a youth-informed cross-sectional online survey: "What feelings and emotions have you experienced around the pandemic?" and "What coping strategies have you used during the …

Rates And Determinants Of Mother's Own Milk Feeding In Infants Born Very Preterm, Dinesh Dharel, Nalini Singhal, Christel Wood, Zenon Cieslak, Fabiana Bacchini, Prakesh S. Shah, Xiang Y. Ye, Belal Alshaikh

Paediatrics Publications

Objectives: To examine rates and determinants of mother's own milk (MOM) feeding at hospital discharge in a cohort of infants born very preterm within the Canadian Neonatal Network (CNN). Study design: This was a population-based cohort study of infants born at (NICUs) participating in the CNN between January 1, 2015, and December 31, 2018. We examined the rates and determinants of MOM use at discharge home among the participating NICUs. We used multivariable logistic regression analysis to identify independent determinants of MOM feeding. Results: Among the 6404 infants born very preterm and discharged home during the study period, 4457 (70%) …

Group A Streptococcal Septic Hip Arthritis In A Child With Spastic Triplegic Cerebral Palsy, Supriya Singh, Jacob Davidson, Timothy Carey, Michelle Barton Forbes, Megan Cashin

Paediatrics Publications

Reports of septic hip arthritis in children with cerebral palsy are exceedingly rare. This case report describes a 10-year-old boy with spastic triplegic cerebral palsy (Gross Motor Functional Classification System), who presented with fever and irritability. This case highlights the difficulties in diagnosing septic joint arthritis in patients with cerebral palsy who are nonverbal and have limited mobility. A high index of suspicion is necessary in this population when presented with fever and new limitations in mobility.

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 …

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 …

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 …

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 …

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 …

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 …

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

Paediatrics Publications

Editorial

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.