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Erratum: Correction To: Does Specialist Physician Supply Affect Pediatric Asthma Health Outcomes? (Bmc Health Services Research (2018) 18 1 (247)), Guido Filler, Tom Kovesi, Erik Bourdon, Sarah Ann Jones, Laurentiu Givelichian, Cheryl Rockman-Greenberg, Jason Gilliland, Marion Williams, Elaine Orrbine, Bruno Piedboeuf Nov 2019

Erratum: Correction To: Does Specialist Physician Supply Affect Pediatric Asthma Health Outcomes? (Bmc Health Services Research (2018) 18 1 (247)), Guido Filler, Tom Kovesi, Erik Bourdon, Sarah Ann Jones, Laurentiu Givelichian, Cheryl Rockman-Greenberg, Jason Gilliland, Marion Williams, Elaine Orrbine, Bruno Piedboeuf

Paediatrics Publications

In the original publication of this article [1], the institutional author's name needs to be revised from The Paediatric Chairs of Canada Mark Bernstein to The Paediatric Chairs of Canada.


The Transcription Factor Pu.1 Mediates Enhancer-Promoter Looping That Is Required For Il-1 Erna And Mrna Transcription In Mouse Melanoma And Macrophage Cell Lines, Soon-Duck Ha, Woohyun Cho, Rodney P. Dekoter, Sung Ouk Kim Nov 2019

The Transcription Factor Pu.1 Mediates Enhancer-Promoter Looping That Is Required For Il-1 Erna And Mrna Transcription In Mouse Melanoma And Macrophage Cell Lines, Soon-Duck Ha, Woohyun Cho, Rodney P. Dekoter, Sung Ouk Kim

Paediatrics Publications

The DNA-binding protein PU.1 is a myeloid lineage– determining and pioneering transcription factor due to its ability to bind “closed” genomic sites and maintain “open” chromatin state for myeloid lineage–specific genes. The precise mechanism of PU.1 in cell type–specific programming is yet to be elucidated. The melanoma cell line B16BL6, although it is nonmyeloid lineage, expressed Toll-like receptors and activated the transcription factor NF-B upon stimulation by the bacterial cell wall component lipopolysaccharide. However, it did not produce cytokines, such as IL-1 mRNA. Ectopic PU.1 expression induced remodeling of a novel distal enhancer (located 10 kbp upstream of the IL-1 …


Immunoreactive Trypsinogen Levels In Newborn Screened Infants With An Inconclusive Diagnosis Of Cystic Fibrosis., Chee Y Ooi, Rosie Sutherland, Carlo Castellani, Katherine Keenan, Margaret Boland, Joe Reisman, Candice Bjornson, Mark A Chilvers, Richard Van Wylick, Steven Kent, April Price, Dimas Mateos-Corral, Daniel Hughes, Melinda Solomon, Peter Zuberbuhler, Janna Brusky, Peter R Durie, Felix Ratjen, Tanja Gonska Oct 2019

Immunoreactive Trypsinogen Levels In Newborn Screened Infants With An Inconclusive Diagnosis Of Cystic Fibrosis., Chee Y Ooi, Rosie Sutherland, Carlo Castellani, Katherine Keenan, Margaret Boland, Joe Reisman, Candice Bjornson, Mark A Chilvers, Richard Van Wylick, Steven Kent, April Price, Dimas Mateos-Corral, Daniel Hughes, Melinda Solomon, Peter Zuberbuhler, Janna Brusky, Peter R Durie, Felix Ratjen, Tanja Gonska

Paediatrics Publications

BACKGROUND:
Newborn screening (NBS) for cystic fibrosis (CF) not only identifies infants with a diagnosis of CF, but also those with an uncertain diagnosis of cystic fibrosis (CF), i.e. CF transmembrane conductance regulator (CFTR)-related metabolic syndrome (CRMS) or CF screen positive inconclusive diagnosis (CFSPID). These infants have an uncertain long-term outcome and it is currently unclear around time of diagnosis, which infants are at higher risk of later fulfilling a CF diagnosis. In this study, we hypothesised that immunoreactive trypsinogen (IRT) levels, used in NBS as a marker of pancreatic disease and function, may reflect the degree of CFTR dysfunction …


Asthma Exacerbation Trajectories And Their Predictors In Children With Incident Asthma., Sharifa Nasreen, Piotr Wilk, Tara Mullowney, Igor Karp Sep 2019

Asthma Exacerbation Trajectories And Their Predictors In Children With Incident Asthma., Sharifa Nasreen, Piotr Wilk, Tara Mullowney, Igor Karp

Paediatrics Publications

BACKGROUND:
Asthma exacerbation trajectories in children after incident asthma diagnosis are understudied.

OBJECTIVE:
To identify trajectories of asthma exacerbation and predictors of these trajectories in children with incident asthma.

METHODS:
Children from the National Longitudinal Survey of Children and Youth, Canada, with incident asthma were followed-up for up to 12 years during childhood. Latent class growth modeling was used to identify distinct asthma exacerbation trajectory groups. Multinomial logistic regression was performed to identify predictors of trajectory group membership.

RESULTS:
The mean age at asthma diagnosis among 403 children was 5.9 years. Three distinct trajectories were identified: low increasing (21.3% of …


Utility Of Clinical Features With Fine Needle Aspiration Biopsy For Diagnosis Of Warthin Tumor., Thomas So, Axel Sahovaler, Anthony Nichols, Kevin Fung, John Yoo, Michele M Weir, S Danielle Macneil Aug 2019

Utility Of Clinical Features With Fine Needle Aspiration Biopsy For Diagnosis Of Warthin Tumor., Thomas So, Axel Sahovaler, Anthony Nichols, Kevin Fung, John Yoo, Michele M Weir, S Danielle Macneil

Paediatrics Publications

BACKGROUND:
Conservative management of Warthin tumor (WT) may be a viable alternative to surgery, but there are concerns of missed malignancies on fine needle aspiration biopsy (FNAB). The purpose of this study is to measure the sensitivity and positive predictive value of FNAB for WT, and to identify clinical features associated with WT that can aid in this diagnosis.

METHODS:
Retrospective analysis of patients from January 1, 2006 to April 30, 2017 at a tertiary care center in London, Ontario, Canada. All patients with a diagnosis of WT on FNAB or resection were included. Electronic medical records were identified for …


Neurodevelopmental Outcomes Of Infantile Hydrocephalus: An Fmri Case Study, Ikhlas Ahmed Hashi Aug 2019

Neurodevelopmental Outcomes Of Infantile Hydrocephalus: An Fmri Case Study, Ikhlas Ahmed Hashi

Electronic Thesis and Dissertation Repository

Ventricle dilatation caused by infantile hydrocephalus may result in extensive damage of the posterior cortex (parietal and occipital lobes). We hypothesize that pathological changes in the development of the posterior cortex can be linked to non-verbal learning disabilities in children with previous infantile hydrocephalus. This case study will investigate the neurodevelopmental outcomes of 3 treated hydrocephalus patients, when compared to a group of healthy control children (n = 12). Within the hydrocephalus group, patients displayed differences in non-verbal test performance as well as parietal brain activation during an fMRI number comparison task. We associated these differences with clinical variables such …


Classification Criteria For Autoinflammatory Recurrent Fevers., Marco Gattorno, Michael Hofer, Silvia Federici, Federica Vanoni, Francesca Bovis, Ivona Aksentijevich, Jordi Anton, Juan Ignacio Arostegui, Karyl Barron, Eldad Ben-Cherit, Paul A Brogan, Luca Cantarini, Isabella Ceccherini, Fabrizio De Benedetti, Fatma Dedeoglu, Erkan Demirkaya, Joost Frenkel, Raphaela Goldbach-Mansky, Ahmet Gul, Veronique Hentgen, Hal Hoffman, Tilmann Kallinich, Isabelle Kone-Paut, Jasmin Kuemmerle-Deschner, Helen J Lachmann, Ronald M Laxer, Avi Livneh, Laura Obici, Seza Ozen, Dorota Rowczenio, Ricardo Russo, Yael Shinar, Anna Simon, Nataša Toplak, Isabelle Touitou, Yosef Uziel, Marielle Van Gijn, Dirk Foell, Claudia Garassino, Dan Kastner, Alberto Martini, Maria Pia Sormani, Nicolino Ruperto Aug 2019

Classification Criteria For Autoinflammatory Recurrent Fevers., Marco Gattorno, Michael Hofer, Silvia Federici, Federica Vanoni, Francesca Bovis, Ivona Aksentijevich, Jordi Anton, Juan Ignacio Arostegui, Karyl Barron, Eldad Ben-Cherit, Paul A Brogan, Luca Cantarini, Isabella Ceccherini, Fabrizio De Benedetti, Fatma Dedeoglu, Erkan Demirkaya, Joost Frenkel, Raphaela Goldbach-Mansky, Ahmet Gul, Veronique Hentgen, Hal Hoffman, Tilmann Kallinich, Isabelle Kone-Paut, Jasmin Kuemmerle-Deschner, Helen J Lachmann, Ronald M Laxer, Avi Livneh, Laura Obici, Seza Ozen, Dorota Rowczenio, Ricardo Russo, Yael Shinar, Anna Simon, Nataša Toplak, Isabelle Touitou, Yosef Uziel, Marielle Van Gijn, Dirk Foell, Claudia Garassino, Dan Kastner, Alberto Martini, Maria Pia Sormani, Nicolino Ruperto

Paediatrics Publications

BACKGROUND:
Different diagnostic and classification criteria are available for hereditary recurrent fevers (HRF)-familial Mediterranean fever (FMF), tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), mevalonate kinase deficiency (MKD) and cryopyrin-associated periodic syndromes (CAPS)-and for the non-hereditary, periodic fever, aphthosis, pharyngitis and adenitis (PFAPA). We aimed to develop and validate new evidence-based classification criteria for HRF/PFAPA.

METHODS:
Step 1: selection of clinical, laboratory and genetic candidate variables; step 2: classification of 360 random patients from the Eurofever Registry by a panel of 25 clinicians and 8 geneticists blinded to patients' diagnosis (consensus ≥80%); step 3: statistical analysis for the selection of …


Offspring From Maternal Nutrient Restriction In Mice Show Variations In Adult Glucose Metabolism Similar To Human Fetal Growth Restriction., B N Radford, V K M Han Aug 2019

Offspring From Maternal Nutrient Restriction In Mice Show Variations In Adult Glucose Metabolism Similar To Human Fetal Growth Restriction., B N Radford, V K M Han

Paediatrics Publications

Fetal growth restriction (FGR) is a pregnancy condition in which fetal growth is suboptimal for gestation, and this population is at increased risk for type 2 diabetes as adults. In humans, maternal malnutrition and placental insufficiency are the most common causes of FGR, and both result in fetal undernutrition. We hypothesized that maternal nutrient restriction (MNR) in mice will cause FGR and alter glucose metabolism in adult offspring. Pregnant CD-1 mice were subjected to MNR (70% of average ad libitum) or control (ad libitum) from E6.5 to birth. Following birth, mice were fostered by mothers on ad libitum feeds. Weight, …


Chromium: Rise And Shine In Peritoneal Dialysis Patients?, Guido Filler, Christopher Mcintyre Jul 2019

Chromium: Rise And Shine In Peritoneal Dialysis Patients?, Guido Filler, Christopher Mcintyre

Paediatrics Publications

Some trace elements are altered with chronic kidney disease. Selenium, zinc, and manganese tend to be wasted, and there is growing evidence that selenium deficiency is associated with mortality on dialysis. Other trace elements accumulate, such as chromium, cobalt, lead, molybdenum, and vanadium. The highest chromium levels are found in dialysis patients. The dialysis modality may further affect these levels, especially in hemodialysis patients, where even small contaminations in the dialysis feed water may lead to a concentration gradient that increases the concentration of certain trace elements. Chromium levels in peritoneal dialysis (PD) patients have been understudied. A single cross-sectional …


The Stability Of Retrospective Pre-Injury Symptom Ratings Following Pediatric Concussion., Elizabeth F Teel, Roger L Zemek, Kenneth Tang, Gerard Gioia, Christopher Vaughan, Maegan Sady, Isabelle J Gagnon, Gurinder Sangha Jun 2019

The Stability Of Retrospective Pre-Injury Symptom Ratings Following Pediatric Concussion., Elizabeth F Teel, Roger L Zemek, Kenneth Tang, Gerard Gioia, Christopher Vaughan, Maegan Sady, Isabelle J Gagnon, Gurinder Sangha

Paediatrics Publications

Objective:
To determine the stability of children's retrospective ratings of pre-injury levels of symptoms over time following concussion.

Methods:
Children and adolescents (n = 3,063) between the ages of 5–17 diagnosed with a concussion by their treating pediatric emergency department (PED) physician within 48 h of injury completed the Post-Concussion Symptom Inventory (PCSI) at the PED and at 1, 2, 4, 8, and 12-weeks post-injury. At each time point, participants retrospectively recalled their pre-injury levels of post-injury symptoms. The PCSI has three age-appropriate versions for children aged 5–7 (PCSI-SR5), 8–12 (PCSI-SR8), and 13–18 (PCSI-SR13). Total scale, subscales (physical, cognitive, …


Placental Micrornas In Pregnancies With Early Onset Intrauterine Growth Restriction And Preeclampsia: Potential Impact On Gene Expression And Pathophysiology., Zain Awamleh, Gregory B Gloor, Victor K M Han Jun 2019

Placental Micrornas In Pregnancies With Early Onset Intrauterine Growth Restriction And Preeclampsia: Potential Impact On Gene Expression And Pathophysiology., Zain Awamleh, Gregory B Gloor, Victor K M Han

Paediatrics Publications

BACKGROUND:
A normally developed placenta is integral to a successful pregnancy. Preeclampsia (PE) and intrauterine growth restriction (IUGR) are two common pregnancy related complications that maybe a result of abnormal placental development. Placental microRNAs (miRNAs) have been investigated as potential biomarkers for these complications, as they may play a role in placental development and pathophysiology by influencing gene expression. The purpose of this study is to utilize next-generation sequencing to determine miRNA and gene expression in human placental (chorionic villous) samples from three distinct patient groups with early-onset (EO) PE, IUGR, or PE + IUGR.

METHODS:
Placental tissues were collected …


A National Survey Of Resources To Address Sepsis In Children In Tertiary Care Centers In Nigeria., Odiraa C Nwankwor, Brianna Mckelvie, Meg Frizzola, Krystal Hunter, Halima S Kabara, Abiola Oduwole, Tagbo Oguonu, Niranjan Kissoon Jun 2019

A National Survey Of Resources To Address Sepsis In Children In Tertiary Care Centers In Nigeria., Odiraa C Nwankwor, Brianna Mckelvie, Meg Frizzola, Krystal Hunter, Halima S Kabara, Abiola Oduwole, Tagbo Oguonu, Niranjan Kissoon

Paediatrics Publications

Background:
Infections leading to sepsis are major contributors to mortality and morbidity in children world-wide. Determining the capacity of pediatric hospitals in Nigeria to manage sepsis establishes an important baseline for quality-improvement interventions and resource allocations.

Objectives:
To assess the availability and functionality of resources and manpower for early detection and prompt management of sepsis in children at tertiary pediatric centers in Nigeria.

Methods:
This was an online survey of tertiary pediatric hospitals in Nigeria using a modified survey tool designed by the World Federation of Pediatric Intensive and Critical Care Societies (WFPICCS). The survey addressed all aspects of pediatric …


The Impact Of Pediatric Emergency Department Crowding On Patient And Health Care System Outcomes: A Multicentre Cohort Study., Quynh Doan, Hubert Wong, Garth Meckler, David Johnson, Antonia Stang, Andrew Dixon, Scott Sawyer, Tania Principi, April J Kam, Gary Joubert, Jocelyn Gravel, Mona Jabbour, Astrid Guttmann Jun 2019

The Impact Of Pediatric Emergency Department Crowding On Patient And Health Care System Outcomes: A Multicentre Cohort Study., Quynh Doan, Hubert Wong, Garth Meckler, David Johnson, Antonia Stang, Andrew Dixon, Scott Sawyer, Tania Principi, April J Kam, Gary Joubert, Jocelyn Gravel, Mona Jabbour, Astrid Guttmann

Paediatrics Publications

BACKGROUND:
Emergency department overcrowding has been associated with increased odds of hospital admission and mortality after discharge from the emergency department in predominantly adult cohorts. The objective of this study was to evaluate the association between crowding and the odds of several adverse outcomes among children seen at a pediatric emergency department.

METHODS:
We conducted a retrospective cohort study involving all children visiting 8 Canadian pediatric emergency departments across 4 provinces between 2010 and 2014. We analyzed the association between mean departmental length of stay for each index visit and hospital admission within 7 days or death within 14 days …


Twelve Tips For Enhancing Student Engagement., Harm Peters, Marko Zdravkovic, Manuel João Costa, Antonio Celenza, Kulsoom Ghias, Debra Klamen, Liz Mossop, Michael Rieder, Vishna Devi Nadarajah, Danai Wangsaturaka, Martin Wohlin, Margot Weggemans Jun 2019

Twelve Tips For Enhancing Student Engagement., Harm Peters, Marko Zdravkovic, Manuel João Costa, Antonio Celenza, Kulsoom Ghias, Debra Klamen, Liz Mossop, Michael Rieder, Vishna Devi Nadarajah, Danai Wangsaturaka, Martin Wohlin, Margot Weggemans

Paediatrics Publications

Student engagement refers to a broad range of activities where students participate in management, education, research, and community activities within their institutions. It is a mutually beneficial collaborative approach between students and their institutions. This article provides practical advice for the implementation or further development of student engagement at medical, dental, and veterinary schools. The tips provided are based on the experiences of a group of universities recently recognized for best practice in student engagement, and are supported by evidence from the literature. The tips cover overarching themes which include the creation of an institutional culture and formal framework for …


External Cold And Vibration For Pain Management Of Children Undergoing Needle-Related Procedures In The Emergency Department: A Randomised Controlled Non-Inferiority Trial Protocol., Ariane Ballard, Christelle Khadra, Samara Adler, Evelyne D Trottier, Benoit Bailey, Naveen Poonai, Jean Théroux, Sylvie Le May Jun 2019

External Cold And Vibration For Pain Management Of Children Undergoing Needle-Related Procedures In The Emergency Department: A Randomised Controlled Non-Inferiority Trial Protocol., Ariane Ballard, Christelle Khadra, Samara Adler, Evelyne D Trottier, Benoit Bailey, Naveen Poonai, Jean Théroux, Sylvie Le May

Paediatrics Publications

INTRODUCTION: Needle-related procedures are considered as the most important source of pain and distress in children in hospital settings. Considering the physiological and psychological consequences that could result from these procedures, management of pain and distress through pharmacological and non-pharmacological methods is essential. Therefore, it is important to have interventions that are rapid, easy-to-use and likely to be translated into clinical practice for routine use. The aim of this study will be to determine whether a device combining cold and vibration (Buzzy) is non-inferior to a topical anaesthetic (liposomal lidocaine 4% cream) for pain management of children undergoing needle-related procedures …


Unanticipated Admissions To Paediatric Cardiac Critical Care After Cardiac Catheterisations., Erin Peebles, Michael R Miller, Lee N Benson, Tilman Humpl Jun 2019

Unanticipated Admissions To Paediatric Cardiac Critical Care After Cardiac Catheterisations., Erin Peebles, Michael R Miller, Lee N Benson, Tilman Humpl

Paediatrics Publications

OBJECTIVES: Cardiac catheterisation is commonly used for diagnosis and therapeutic interventions in paediatric cardiology. The inherent risk of the procedure can result in unanticipated admissions to critical care. Our goals were to provide a qualitative description of characteristics and evaluation of children admitted unexpectedly to the cardiac critical care unit (CCCU).

METHODS: A retrospective single centre review of cardiac catheterisation procedures was done between 1 January, 2003 and 30 April, 2013.

RESULTS: Of 9336 cardiac catheterisations performed, 146 (1.6%) were admitted from the catheterisation laboratory to the CCCU and met inclusion criteria. Of these 146 patients, 117 (1.3%) met criteria …


Use Of A Radial Artery ‘Slender’ Sheath For Facilitating Transfemoral Arterial Access For Neuroendovascular Embolization In A Very Young Infant, Timothy L. Miao, Enriqueta Lucar Figueroa, Khalid Bajunaid, Michael Mayich, Sandrine De Ribaupierre, Sachin K. Pandey Jun 2019

Use Of A Radial Artery ‘Slender’ Sheath For Facilitating Transfemoral Arterial Access For Neuroendovascular Embolization In A Very Young Infant, Timothy L. Miao, Enriqueta Lucar Figueroa, Khalid Bajunaid, Michael Mayich, Sandrine De Ribaupierre, Sachin K. Pandey

Paediatrics Publications

Pediatric neuroendovascular procedures are increasingly performed as several studies have shown the safety of these interventions. In the literature, an upper limit of 4 French catheter size is conventionally used for femoral access in neuroangiography of very young infants. However, this constraint in luminal size may not allow for more complex procedures. We present the previously unreported use of a radial 5 French slender catheter with ultrathin walls for femoral access for aneurysm embolization in a 3-month-old boy presenting with left M2 aneurysm rupture.


The Canadian Childhood Nephrotic Syndrome (Childneph) Study: Report On Mid-Study Feasibility, Recruitment And Main Measures., Susan M Samuel, Allison Dart, Guido Filler, Martin Bitzan, Maury Pinsk, Cherry Mammen, Alberto Nettel-Aguirre, Maneka A Perinpanayagam, Tomoko Takano, Rahul Chanchlani, Michael Zappitelli May 2019

The Canadian Childhood Nephrotic Syndrome (Childneph) Study: Report On Mid-Study Feasibility, Recruitment And Main Measures., Susan M Samuel, Allison Dart, Guido Filler, Martin Bitzan, Maury Pinsk, Cherry Mammen, Alberto Nettel-Aguirre, Maneka A Perinpanayagam, Tomoko Takano, Rahul Chanchlani, Michael Zappitelli

Paediatrics Publications

BACKGROUND:
To assess reasons for continuing practice variation in the management of childhood nephrotic syndrome despite expert reviews and guidelines, we are conducting a longitudinal cohort study in children with glucocorticoid sensitive nephrotic syndrome. Objectives of this mid-study report are to describe patient and physician recruitment characteristics, glucocorticoid prescriptions, use of second line agents, biopsy practices, and adherence to study protocol.

METHODS:
Children with new onset nephrotic syndrome and providers are being recruited from all 12 pediatric nephrology centres across Canada with > 2½ years follow-up. Data collection points of observation are over a minimum 36 months. Details of prescribed glucocorticoids …


The Effects Of Tracheal Occlusion On Wnt Signaling In A Rabbit Model Of Congenital Diaphragmatic Hernia, Martina Mudri, Shane A. Smith, Christina Vanderboor, Jacob Davidson, Timothy R.H. Regnault, Andreana Bütter May 2019

The Effects Of Tracheal Occlusion On Wnt Signaling In A Rabbit Model Of Congenital Diaphragmatic Hernia, Martina Mudri, Shane A. Smith, Christina Vanderboor, Jacob Davidson, Timothy R.H. Regnault, Andreana Bütter

Paediatrics Publications

Purpose: Tracheal occlusion (TO)reverses pulmonary hypoplasia (PH)in congenital diaphragmatic hernia (CDH), but its mechanism of action remains poorly understood. Wnt signaling plays a critical role in lung development, but few studies exist. The purpose of our study was to a)confirm that our CDH rabbit model produced PH which was reversed by TO and b)determine the effects of CDH +/− TO on Wnt signaling. Methods: CDH was created in fetal rabbits at 23 days, TO at 28 days, and lung collection at 31 days. Lung body weight ratio (LBWR)and mean terminal bronchiole density (MTBD)were determined. mRNA and miRNA expression was determined …


Gene Domain-Specific Dna Methylation Episignatures Highlight Distinct Molecular Entities Of Adnp Syndrome., Eric G Bend, Erfan Aref-Eshghi, David B Everman, R Curtis Rogers, Sara S Cathey, Eloise J Prijoles, Michael J Lyons, Heather Davis, Katie Clarkson, Karen W Gripp, Dong Li, Elizabeth Bhoj, Elaine Zackai, Paul Mark, Hakon Hakonarson, Laurie A Demmer, Michael A Levy, Jennifer Kerkhof, Alan Stuart, David Rodenhiser, Michael J Friez, Roger E Stevenson, Charles E Schwartz, Bekim Sadikovic Apr 2019

Gene Domain-Specific Dna Methylation Episignatures Highlight Distinct Molecular Entities Of Adnp Syndrome., Eric G Bend, Erfan Aref-Eshghi, David B Everman, R Curtis Rogers, Sara S Cathey, Eloise J Prijoles, Michael J Lyons, Heather Davis, Katie Clarkson, Karen W Gripp, Dong Li, Elizabeth Bhoj, Elaine Zackai, Paul Mark, Hakon Hakonarson, Laurie A Demmer, Michael A Levy, Jennifer Kerkhof, Alan Stuart, David Rodenhiser, Michael J Friez, Roger E Stevenson, Charles E Schwartz, Bekim Sadikovic

Paediatrics Publications

BACKGROUND:
ADNP syndrome is a rare Mendelian disorder characterized by global developmental delay, intellectual disability, and autism. It is caused by truncating mutations in ADNP, which is involved in chromatin regulation. We hypothesized that the disruption of chromatin regulation might result in specific DNA methylation patterns that could be used in the molecular diagnosis of ADNP syndrome.

RESULTS:
We identified two distinct and partially opposing genomic DNA methylation episignatures in the peripheral blood samples from 22 patients with ADNP syndrome. The "epi-ADNP-1" episignature included ~ 6000 mostly hypomethylated CpGs, and the "epi-ADNP-2" episignature included ~ 1000 predominantly hypermethylated CpGs. The …


Diagnostic Utility Of Genome-Wide Dna Methylation Testing In Genetically Unsolved Individuals With Suspected Hereditary Conditions., Erfan Aref-Eshghi, Eric G Bend, Samantha Colaiacovo, Michelle Caudle, Rana Chakrabarti, Melanie Napier, Lauren Brick, Lauren Brady, Deanna Alexis Carere, Michael A Levy, Jennifer Kerkhof, Alan Stuart, Maha Saleh, Arthur L Beaudet, Chumei Li, Maryia Kozenko, Natalya Karp, Chitra Prasad, Victoria Mok Siu, Mark A Tarnopolsky, Peter J Ainsworth, Hanxin Lin, David I Rodenhiser, Ian D Krantz, Matthew A Deardorff, Charles E Schwartz, Bekim Sadikovic Apr 2019

Diagnostic Utility Of Genome-Wide Dna Methylation Testing In Genetically Unsolved Individuals With Suspected Hereditary Conditions., Erfan Aref-Eshghi, Eric G Bend, Samantha Colaiacovo, Michelle Caudle, Rana Chakrabarti, Melanie Napier, Lauren Brick, Lauren Brady, Deanna Alexis Carere, Michael A Levy, Jennifer Kerkhof, Alan Stuart, Maha Saleh, Arthur L Beaudet, Chumei Li, Maryia Kozenko, Natalya Karp, Chitra Prasad, Victoria Mok Siu, Mark A Tarnopolsky, Peter J Ainsworth, Hanxin Lin, David I Rodenhiser, Ian D Krantz, Matthew A Deardorff, Charles E Schwartz, Bekim Sadikovic

Paediatrics Publications

Conventional genetic testing of individuals with neurodevelopmental presentations and congenital anomalies (ND/CAs), i.e., the analysis of sequence and copy number variants, leaves a substantial proportion of them unexplained. Some of these cases have been shown to result from DNA methylation defects at a single locus (epi-variants), while others can exhibit syndrome-specific DNA methylation changes across multiple loci (epi-signatures). Here, we investigate the clinical diagnostic utility of genome-wide DNA methylation analysis of peripheral blood in unresolved ND/CAs. We generate a computational model enabling concurrent detection of 14 syndromes using DNA methylation data with full accuracy. We demonstrate the ability of this …


The 2014 Ontario Child Health Study—Methodology, Michael H. Boyle, Katholiki Georgiades, Laura Duncan, Laura Duncan, Jinette Comeau, Jinette Comeau, Li Wang, Tracie O. Afifi, William R. Avison, Graham Reid, Kathryn Bennett, Terry Bennett, Khrista Boylan, Michelle Butt, Charles Cunningham, Eric Duku, Jim Dunn, Katholiki Georgiades, Stelios Georgiades, Andrea Gonzalez, Geoffrey Hall, Magdalena Janus, Melissa Kimber, Ellen Lipman, Harriet Macmillan, Peter Rosenbaum, Roberto Sassi, Louis Schmidt, Noam Soreni Apr 2019

The 2014 Ontario Child Health Study—Methodology, Michael H. Boyle, Katholiki Georgiades, Laura Duncan, Laura Duncan, Jinette Comeau, Jinette Comeau, Li Wang, Tracie O. Afifi, William R. Avison, Graham Reid, Kathryn Bennett, Terry Bennett, Khrista Boylan, Michelle Butt, Charles Cunningham, Eric Duku, Jim Dunn, Katholiki Georgiades, Stelios Georgiades, Andrea Gonzalez, Geoffrey Hall, Magdalena Janus, Melissa Kimber, Ellen Lipman, Harriet Macmillan, Peter Rosenbaum, Roberto Sassi, Louis Schmidt, Noam Soreni

Paediatrics Publications

Objective: To describe the methodology of the 2014 Ontario Child Health Study (OCHS): a province-wide, cross-sectional, epidemiologic study of child health and mental disorder among 4- to 17-year-olds living in household dwellings. Method: Implemented by Statistics Canada, the 2014 OCHS was led by academic researchers at the Offord Centre for Child Studies (McMaster University). Eligible households included families with children aged 4 to 17 years, who were listed on the 2014 Canadian Child Tax Benefit File. The survey design included area and household stratification by income and 3-stage cluster sampling of areas and households to yield a probability sample of …


Poverty, Neighbourhood Antisocial Behaviour, And Children’S Mental Health Problems: Findings From The 2014 Ontario Child Health Study, Michael H. Boyle, Katholiki Georgiades, Laura Duncan, Laura Duncan, Li Wang, Jinette Comeau, Jinette Comeau, Tracie O. Afifi, William R. Avison, Graham Reid, Kathryn Bennett, Terry Bennett, Khrista Boylan, Michelle Butt, Charles Cunningham, Eric Duku, Jim Dunn, Katholiki Georgiades, Stelios Georgiades, Andrea Gonzalez, Geoffrey Hall, Magdalena Janus, Melissa Kimber, Ellen Lipman, Harriet Macmillan, Peter Rosenbaum, Roberto Sassi, Louis Schmidt, Noam Soreni Apr 2019

Poverty, Neighbourhood Antisocial Behaviour, And Children’S Mental Health Problems: Findings From The 2014 Ontario Child Health Study, Michael H. Boyle, Katholiki Georgiades, Laura Duncan, Laura Duncan, Li Wang, Jinette Comeau, Jinette Comeau, Tracie O. Afifi, William R. Avison, Graham Reid, Kathryn Bennett, Terry Bennett, Khrista Boylan, Michelle Butt, Charles Cunningham, Eric Duku, Jim Dunn, Katholiki Georgiades, Stelios Georgiades, Andrea Gonzalez, Geoffrey Hall, Magdalena Janus, Melissa Kimber, Ellen Lipman, Harriet Macmillan, Peter Rosenbaum, Roberto Sassi, Louis Schmidt, Noam Soreni

Paediatrics Publications

Objectives: To determine if levels of neighbourhood poverty and neighbourhood antisocial behaviour modify associations between household poverty and child and youth mental health problems. Methods: Data come from the 2014 Ontario Child Health Study—a provincially representative survey of 6537 families with 10,802 four- to 17-year-olds. Multivariate multilevel modelling was used to test if neighbourhood poverty and antisocial behaviour interact with household poverty to modify associations with children’s externalizing and internalizing problems based on parent assessments of children (4- to 17-year-olds) and self-assessments of youth (12- to 17-year-olds). Results: Based on parent assessments, neighbourhood poverty, and antisocial behaviour modified associations between …


Six-Month Prevalence Of Mental Disorders And Service Contacts Among Children And Youth In Ontario: Evidence From The 2014 Ontario Child Health Study, Katholiki Georgiades, Laura Duncan, Laura Duncan, Li Wang, Jinette Comeau, Jinette Comeau, Michael H. Boyle, Michael H. Boyle, Tracie O. Afifi, William R. Avison, Graham Reid, Kathryn Bennett, Terry Bennett, Khrista Boylan, Michelle Butt, Charles Cunningham, Eric Duku, Jim Dunn, Stelios Georgiades, Andrea Gonzalez, Geoffrey Hall, Magdalena Janus, Melissa Kimber, Ellen Lipman, Harriet Macmillan, Peter Rosenbaum, Roberto Sassi, Louis Schmidt, Noam Soreni Apr 2019

Six-Month Prevalence Of Mental Disorders And Service Contacts Among Children And Youth In Ontario: Evidence From The 2014 Ontario Child Health Study, Katholiki Georgiades, Laura Duncan, Laura Duncan, Li Wang, Jinette Comeau, Jinette Comeau, Michael H. Boyle, Michael H. Boyle, Tracie O. Afifi, William R. Avison, Graham Reid, Kathryn Bennett, Terry Bennett, Khrista Boylan, Michelle Butt, Charles Cunningham, Eric Duku, Jim Dunn, Stelios Georgiades, Andrea Gonzalez, Geoffrey Hall, Magdalena Janus, Melissa Kimber, Ellen Lipman, Harriet Macmillan, Peter Rosenbaum, Roberto Sassi, Louis Schmidt, Noam Soreni

Paediatrics Publications

Objectives: To present the 6-month prevalence and sociodemographic correlates of mental disorders and mental health–related service contacts in a sample of children (4 to 11 years) and youth (12 to 17 years) in Ontario. Methods: The 2014 Ontario Child Health Study is a provincially representative survey of 6537 families with children aged 4 to 17 years in Ontario. DSM-IV-TR mental disorders were assessed using the Mini International Neuropsychiatric Interview for Children and Adolescents (MINI-KID) and included mood (major depressive episode), anxiety (generalized anxiety, separation anxiety, social phobia, specific phobia), and behaviour disorders (attention-deficit/hyperactivity disorder, oppositional-defiant disorder, conduct disorder).The MINI-KID was …


Tracking Children’S Mental Health In The 21st Century: Lessons From The 2014 Ochs, Michael H. Boyle, Laura Duncan, Laura Duncan, Katholiki Georgiades, Jinette Comeau, Jinette Comeau, Graham J. Reid, Warren O’Briain, Robert Lampard, Charlotte Waddell, Kathryn Bennett, Terry Bennett, Khrista Boylan, Michelle Butt, Charles Cunningham, Eric Duku, Jim Dunn, Katholiki Georgiades, Stelios Georgiades, Andrea Gonzalez, Geoffrey Hall, Magdalena Janus, Melissa Kimber, Ellen Lipman, Harriet Macmillan, Peter Rosenbaum, Roberto Sassi, Louis Schmidt, Noam Soreni Apr 2019

Tracking Children’S Mental Health In The 21st Century: Lessons From The 2014 Ochs, Michael H. Boyle, Laura Duncan, Laura Duncan, Katholiki Georgiades, Jinette Comeau, Jinette Comeau, Graham J. Reid, Warren O’Briain, Robert Lampard, Charlotte Waddell, Kathryn Bennett, Terry Bennett, Khrista Boylan, Michelle Butt, Charles Cunningham, Eric Duku, Jim Dunn, Katholiki Georgiades, Stelios Georgiades, Andrea Gonzalez, Geoffrey Hall, Magdalena Janus, Melissa Kimber, Ellen Lipman, Harriet Macmillan, Peter Rosenbaum, Roberto Sassi, Louis Schmidt, Noam Soreni

Paediatrics Publications

No abstract provided.


Parents As Agents Of Change In The Treatment Of Childhood Obesity And The Promotion Of Children's Health Behaviours, Kristen C. Reilly Mar 2019

Parents As Agents Of Change In The Treatment Of Childhood Obesity And The Promotion Of Children's Health Behaviours, Kristen C. Reilly

Electronic Thesis and Dissertation Repository

The overarching purpose of this dissertation was to investigate the role of parents as agents of change in the treatment of childhood obesity and the promotion of children’s health behaviours. In order to achieve this purpose, four studies were conducted. The purpose of Study 1 was to explore parents’ perceptions of nutritional literacy, as well as their needs for nutritional literacy information, supports, and resources at familial and community levels. Next, Study 2 described the theoretical components and model used in the development and implementation of a parent-focused childhood overweight and obesity intervention (i.e., C.H.A.M.P. Families). The purpose of Study …


Pain Management Practices Surrounding Lumbar Punctures In Children: A Survey Of Canadian Emergency Physicians., Naveen Poonai, Victoria Brzozowski, Antonia S Stang, Amy L Drendel, Philippe Boisclair, Michael Miller, Stuart Harman, Samina Ali Mar 2019

Pain Management Practices Surrounding Lumbar Punctures In Children: A Survey Of Canadian Emergency Physicians., Naveen Poonai, Victoria Brzozowski, Antonia S Stang, Amy L Drendel, Philippe Boisclair, Michael Miller, Stuart Harman, Samina Ali

Paediatrics Publications

OBJECTIVES:
Lumbar punctures (LPs) are painful for children, and analgesia is recommended by academic societies. However, less than one-third of pediatric emergency physicians (EPs) adhere to recommendations. We assessed the willingness to provide analgesia among pediatric and general EPs and explored patient and provider-specific barriers.

METHODS:
We surveyed physicians in the Pediatric Emergency Research Canada (PERC) or Canadian Association of Emergency Physicians (CAEP) databases from May 1 to August 1, 2016, regarding hypothetical scenarios for a 3-week-old infant, a 3-year-old child, and a 16-year-old child requiring an LP. The primary outcome was the willingness to provide analgesia. Secondary outcomes included …


Edwardsiella Tarda Infection Triggering Acute Relapse In Pediatric Crohn’S Disease, A K Li, M Barton, J A Delport, D Ashok Mar 2019

Edwardsiella Tarda Infection Triggering Acute Relapse In Pediatric Crohn’S Disease, A K Li, M Barton, J A Delport, D Ashok

Paediatrics Publications

Crohn's disease exacerbations can often be associated with bacterial infections causing gastroenteritis. We report a child who experienced exacerbation of his Crohn's disease associated with a positive stool culture for


Numb Regulates The Endocytosis And Activity Of The Anaplastic Lymphoma Kinase In An Isoform-Specific Manner, Ran Wei, Xuguang Liu, Courtney Voss, Wentao Qin, Lina Dagnino, Lei Li, Marc Vigny, Shawn Shun Cheng Li Feb 2019

Numb Regulates The Endocytosis And Activity Of The Anaplastic Lymphoma Kinase In An Isoform-Specific Manner, Ran Wei, Xuguang Liu, Courtney Voss, Wentao Qin, Lina Dagnino, Lei Li, Marc Vigny, Shawn Shun Cheng Li

Paediatrics Publications

NUMB is an evolutionarily conserved protein that plays an important role in cell adhesion, migration, polarity, and cell fate determination. It has also been shown to play a role in the pathogenesis of certain cancers, although it remains controversial whether NUMB functions as an oncoprotein or tumor suppressor. Here, we show that NUMB binds to anaplastic lymphoma kinase (ALK), a receptor tyrosine kinase aberrantly activated in several forms of cancer, and this interaction regulates the endocytosis and activity of ALK. Intriguingly, the function of the NUMB-ALK interaction is isoform-dependent. While both p66-NUMB and p72-NUMB isoforms are capable of mediating the …


Multicentre, Randomised Clinical Trial Of Paediatric Concussion Assessment Of Rest And Exertion (Pedcare): A Study To Determine When To Resume Physical Activities Following Concussion In Children., Andrée-Anne Ledoux, Nicholas J Barrowman, Kathy Boutis, Adrienne Davis, Sarah Reid, Gurinder Sangha, Ken J Farion, Kevin Belanger, Mark S Tremblay, Keith Owen Yeates, Carol Dematteo, Nick Reed, Roger Zemek Feb 2019

Multicentre, Randomised Clinical Trial Of Paediatric Concussion Assessment Of Rest And Exertion (Pedcare): A Study To Determine When To Resume Physical Activities Following Concussion In Children., Andrée-Anne Ledoux, Nicholas J Barrowman, Kathy Boutis, Adrienne Davis, Sarah Reid, Gurinder Sangha, Ken J Farion, Kevin Belanger, Mark S Tremblay, Keith Owen Yeates, Carol Dematteo, Nick Reed, Roger Zemek

Paediatrics Publications

INTRODUCTION:
Rest until symptom-free, followed by a progressive stepwise return to activities, is often prescribed in the management of paediatric concussions. Recent evidence suggests prolonged rest may hinder recovery, and early resumption of physical activity may be associated with more rapid recovery postconcussion. The primary objective is to determine whether the early reintroduction of non-contact physical activity beginning 72 hours postinjury reduces postconcussive symptoms at 2 weeks in children following an acute concussion as compared with a rest until asymptomatic protocol.

METHODS AND ANALYSIS:
This study is a randomised clinical trial across three Canadian academic paediatric emergency departments. A total …