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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 Apr 2022

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 …


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 Nov 2020

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.


Medium-Term Complications Associated With Coronary Artery Aneurysms After Kawasaki Disease: A Study From The International Kawasaki Disease Registry., Brian W Mccrindle, Cedric Manlhiot, Jane W Newburger, Ashraf S Harahsheh, Therese M Giglia, Frederic Dallaire, Kevin Friedman, Tisiana Low, Kyle Runeckles, Mathew Mathew, Andrew S Mackie, Nadine F Choueiter, Pei-Ni Jone, Shelby Kutty, Anji T Yetman, Geetha Raghuveer, Elfriede Pahl, Kambiz Norozi, Kimberly E Mchugh, Jennifer S Li, Sarah D De Ferranti, Nagib Dahdah Aug 2020

Medium-Term Complications Associated With Coronary Artery Aneurysms After Kawasaki Disease: A Study From The International Kawasaki Disease Registry., Brian W Mccrindle, Cedric Manlhiot, Jane W Newburger, Ashraf S Harahsheh, Therese M Giglia, Frederic Dallaire, Kevin Friedman, Tisiana Low, Kyle Runeckles, Mathew Mathew, Andrew S Mackie, Nadine F Choueiter, Pei-Ni Jone, Shelby Kutty, Anji T Yetman, Geetha Raghuveer, Elfriede Pahl, Kambiz Norozi, Kimberly E Mchugh, Jennifer S Li, Sarah D De Ferranti, Nagib Dahdah

Paediatrics Publications

Background Coronary artery aneurysms (CAAs) may occur after Kawasaki disease (KD) and lead to important morbidity and mortality. As CAA in patients with KD are rare and heterogeneous lesions, prognostication and risk stratification are difficult. We sought to derive the cumulative risk and associated factors for cardiovascular complications in patients with CAAs after KD. Methods and Results A 34-institution international registry of 1651 patients with KD who had CAAs (maximum CAA


Transient Hyponatremia Of Prematurity Caused By Mild Bartter Syndrome Type Ii: A Case Report., Subhrata Verma, Rahul Chanchlani, Victoria Mok Siu, Guido Filler Jun 2020

Transient Hyponatremia Of Prematurity Caused By Mild Bartter Syndrome Type Ii: A Case Report., Subhrata Verma, Rahul Chanchlani, Victoria Mok Siu, Guido Filler

Paediatrics Publications

BACKGROUND: Bartter syndrome subtypes are a group of rare renal tubular diseases characterized by impaired salt reabsorption in the tubule, specifically the thick ascending limb of Henle's loop. Clinically, they are characterized by the association of hypokalemic metabolic alkalosis, hypercalciuria, nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II. Bartter syndrome type II is caused by mutations in the renal outer medullary potassium channel (ROMK) gene (KCNJ1), can present in the newborn period and typically requires lifelong therapy.

CASE PRESENTATION: We describe a case of a prematurely born female infant presenting with …


Age At Migration And The Risk Of Psychotic Disorders: A Systematic Review And Meta-Analysis., Kelly K. Anderson, Jordan Edwards May 2020

Age At Migration And The Risk Of Psychotic Disorders: A Systematic Review And Meta-Analysis., Kelly K. Anderson, Jordan Edwards

Epidemiology and Biostatistics Publications

OBJECTIVE: To conduct a systematic review and meta-analysis of the existing evidence on the association between age at migration and the risk of psychotic disorders.

METHODS: Observational studies were eligible for inclusion if they presented data on the association between age at migration and the risk of psychotic disorders among first-generation migrant groups. We used two random effects meta-analyses to pool effect estimates for each stratum of age at migration relative to (i) a native-born reference category and (ii) the youngest age stratum (0 to 2 years).

RESULTS: Ten studies met inclusion criteria, and five were included in the meta-analysis. …


Predictors Of Bicuspid Aortic Valve-Associated Aortopathy In Childhood: A Report From The Mibava Consortium, Michael Grattan, Andrea Prince, Rawan K Rumman, Conall Morgan, Michele Petrovic, Amanda Hauck, Luciana Young, Anders Franco-Cereceda, Bart Loeys, Salah A Mohamed, Harry Dietz, Seema Mital, Chun-Po Steve Fan, Cedric Manlhiot, Gregor Andelfinger, Luc Mertens Mar 2020

Predictors Of Bicuspid Aortic Valve-Associated Aortopathy In Childhood: A Report From The Mibava Consortium, Michael Grattan, Andrea Prince, Rawan K Rumman, Conall Morgan, Michele Petrovic, Amanda Hauck, Luciana Young, Anders Franco-Cereceda, Bart Loeys, Salah A Mohamed, Harry Dietz, Seema Mital, Chun-Po Steve Fan, Cedric Manlhiot, Gregor Andelfinger, Luc Mertens

Paediatrics Publications

BACKGROUND: Bicuspid aortic valve (BAV) is the most prevalent congenital heart defect affecting 1% to 2% of the population. It is associated with ascending aorta dilatation. Valve morphology, aortic stenosis (AS), and aortic insufficiency (AI) have been proposed as potential risk factors; however, evaluating their role is difficult, as these factors are inherently related. The aim of this study was to determine whether BAV morphology and dysfunction are independent determinants for ascending aorta dilatation in pediatric patients.

METHODS: A multicenter, retrospective, cross-sectional study of pediatric BAV patients followed since 2004 was performed. Imaging data were assessed for BAV morphology, severity …


Osteochondritis Dissecans In Pediatric Patients With Juvenile Idiopathic Arthritis., Bradley C Jackson, Debra L Bartley, Roberta A Berard Mar 2020

Osteochondritis Dissecans In Pediatric Patients With Juvenile Idiopathic Arthritis., Bradley C Jackson, Debra L Bartley, Roberta A Berard

Paediatrics Publications

No abstract provided.


Growth Hormone Deficiency In Megalencephaly-Capillary Malformation Syndrome: An Association With Activating Mutations In Pik3ca, Shanlee Davis, Meredith A Ware, Jordan Zeiger, Matthew A Deardorff, Katheryn Grand, Adda Grimberg, Stephanie Hsu, Megan Kelsey, Shideh Majidi, Revi P Matthew, Melanie Napier, Natalie Nokoff, Chitra Prasad, Andrew C Riggs, Margaret L Mckinnon, Ghayda Mirzaa Jan 2020

Growth Hormone Deficiency In Megalencephaly-Capillary Malformation Syndrome: An Association With Activating Mutations In Pik3ca, Shanlee Davis, Meredith A Ware, Jordan Zeiger, Matthew A Deardorff, Katheryn Grand, Adda Grimberg, Stephanie Hsu, Megan Kelsey, Shideh Majidi, Revi P Matthew, Melanie Napier, Natalie Nokoff, Chitra Prasad, Andrew C Riggs, Margaret L Mckinnon, Ghayda Mirzaa

Paediatrics Publications

Megalencephaly-capillary malformation syndrome (MCAP) is a brain overgrowth disorder characterized by cortical malformations (specifically polymicrogyria), vascular anomalies, and segmental overgrowth secondary to somatic activating mutations in the PI3K-AKT-MTOR pathway (PIK3CA). Cases of growth failure and hypoglycemia have been reported in patients with MCAP, raising the suspicion for unappreciated growth hormone (GH) deficiency. Here we report an observational multicenter study of children with MCAP and GH deficiency. Eleven participants were confirmed to have GH deficiency, all with very low or undetectable circulating concentrations of insulin-like growth factor-1 and insulin-like growth factor binding protein-3. Seven underwent GH stimulation testing and all had …


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 …


Multicenter Trial Of A Combination Probiotic For Children With Gastroenteritis., Stephen B Freedman, Sarah Williamson-Urquhart, Ken J Farion, Serge Gouin, Andrew R Willan, Naveen Poonai, Katrina Hurley, Philip M Sherman, Yaron Finkelstein, Bonita E Lee, Xiao-Li Pang, Linda Chui, David Schnadower, Jianling Xie, Marc Gorelick, Suzanne Schuh Nov 2018

Multicenter Trial Of A Combination Probiotic For Children With Gastroenteritis., Stephen B Freedman, Sarah Williamson-Urquhart, Ken J Farion, Serge Gouin, Andrew R Willan, Naveen Poonai, Katrina Hurley, Philip M Sherman, Yaron Finkelstein, Bonita E Lee, Xiao-Li Pang, Linda Chui, David Schnadower, Jianling Xie, Marc Gorelick, Suzanne Schuh

Paediatrics Publications

Background

Gastroenteritis accounts for approximately 1.7 million visits to the emergency department (ED) by children in the United States every year. Data to determine whether the use of probiotics improves outcomes in these children are lacking.

Methods

We conducted a randomized, double-blind trial involving 886 children 3 to 48 months of age with gastroenteritis who presented to six pediatric EDs in Canada. Participants received a 5-day course of a combination probiotic product containing Lactobacillus rhamnosus R0011 and L. helveticus R0052, at a dose of 4.0×10

Results

Moderate-to-severe gastroenteritis within 14 days after enrollment occurred in 108 of 414 participants (26.1%) …


Stability Of The Gross Motor Function Classification System, Manual Ability Classification System, And Communication Function Classification System., Robert J Palisano, Lisa Avery, Jan Willem Gorter, Barbara Galuppi, Sarah Westcott Mccoy Oct 2018

Stability Of The Gross Motor Function Classification System, Manual Ability Classification System, And Communication Function Classification System., Robert J Palisano, Lisa Avery, Jan Willem Gorter, Barbara Galuppi, Sarah Westcott Mccoy

Physical Therapy Publications

AIM: To determine the stability of the Gross Motor Function Classification System (GMFCS), Manual Ability Classification System (MACS), and Communication Function Classification System (CFCS) over 1-year and 2-year intervals using a process for consensus classification between parents and therapists.

METHOD: Participants were 664 children with cerebral palsy (CP), 18 months to 12 years of age, one of their parents, and 90 therapists. Consensus between parents and therapists on level of function was ≥92% for the GMFCS, MACS, and CFCS. A linearly weighted kappa coefficient of ≥0.75 was the criterion for stability.

RESULTS: Kappa coefficients varied from 0.76 to 0.88 for …


Magnetic Resonance Imaging In The Diagnosis Of White Matter Signal Abnormalities., Ravi Datar, Asuri Narayan Prasad, Keng Yeow Tay, Charles Anthony Rupar, Pavlo Ohorodnyk, Michael Miller, Chitra Prasad Aug 2018

Magnetic Resonance Imaging In The Diagnosis Of White Matter Signal Abnormalities., Ravi Datar, Asuri Narayan Prasad, Keng Yeow Tay, Charles Anthony Rupar, Pavlo Ohorodnyk, Michael Miller, Chitra Prasad

Paediatrics Publications

Background White matter abnormalities (WMAs) pose a diagnostic challenge when trying to establish etiologic diagnoses. During childhood and adult years, genetic disorders, metabolic disorders and acquired conditions are included in differential diagnoses. To assist clinicians and radiologists, a structured algorithm using cranial magnetic resonance imaging (MRI) has been recommended to aid in establishing working diagnoses that facilitate appropriate biochemical and genetic investigations. This retrospective pilot study investigated the validity and diagnostic utility of this algorithm when applied to white matter signal abnormalities (WMSAs) reported on imaging studies of patients seen in our clinics. Methods The MRI algorithm was applied to …


Nutrient Intake In The First Two Weeks Of Life And Brain Growth In Preterm Neonates., Juliane Schneider, Céline J Fischer Fumeaux, Emma G Duerden, Ting Guo, Justin Foong, Myriam Bickle Graz, Patric Hagmann, M Mallar Chakravarty, Petra S Hüppi, Lydie Beauport, Anita C Truttmann, Steven P Miller Mar 2018

Nutrient Intake In The First Two Weeks Of Life And Brain Growth In Preterm Neonates., Juliane Schneider, Céline J Fischer Fumeaux, Emma G Duerden, Ting Guo, Justin Foong, Myriam Bickle Graz, Patric Hagmann, M Mallar Chakravarty, Petra S Hüppi, Lydie Beauport, Anita C Truttmann, Steven P Miller

Brain and Mind Institute Researchers' Publications

BACKGROUND: Optimizing early nutritional intake in preterm neonates may promote brain health and neurodevelopment through enhanced brain maturation. Our objectives were (1) to determine the association of energy and macronutrient intake in the first 2 weeks of life with regional and total brain growth and white matter (WM) maturation, assessed by 3 serial MRI scans in preterm neonates; (2) to examine how critical illness modifies this association; and (3) to investigate the relationship with neurodevelopmental outcomes.

METHODS: Forty-nine preterm neonates (21 boys, median [interquartile range] gestational age: 27.6 [2.3] weeks) were scanned serially at the following median postmenstrual weeks: 29.4, …


Nusinersen Versus Sham Control In Later-Onset Spinal Muscular Atrophy., Eugenio Mercuri, Basil T Darras, Claudia A Chiriboga, John W Day, Craig Campbell, Anne M Connolly, Susan T Iannaccone, Janbernd Kirschner, Nancy L Kuntz, Kayoko Saito, Perry B Shieh, Már Tulinius, Elena S Mazzone, Jacqueline Montes, Kathie M Bishop, Qingqing Yang, Richard Foster, Sarah Gheuens, C Frank Bennett, Wildon Farwell, Eugene Schneider, Darryl C De Vivo, Richard S Finkel Feb 2018

Nusinersen Versus Sham Control In Later-Onset Spinal Muscular Atrophy., Eugenio Mercuri, Basil T Darras, Claudia A Chiriboga, John W Day, Craig Campbell, Anne M Connolly, Susan T Iannaccone, Janbernd Kirschner, Nancy L Kuntz, Kayoko Saito, Perry B Shieh, Már Tulinius, Elena S Mazzone, Jacqueline Montes, Kathie M Bishop, Qingqing Yang, Richard Foster, Sarah Gheuens, C Frank Bennett, Wildon Farwell, Eugene Schneider, Darryl C De Vivo, Richard S Finkel

Paediatrics Publications

BACKGROUND: Nusinersen is an antisense oligonucleotide drug that modulates pre-messenger RNA splicing of the survival motor neuron 2 ( SMN2) gene. It has been developed for the treatment of spinal muscular atrophy (SMA).

METHODS: We conducted a multicenter, double-blind, sham-controlled, phase 3 trial of nusinersen in 126 children with SMA who had symptom onset after 6 months of age. The children were randomly assigned, in a 2:1 ratio, to undergo intrathecal administration of nusinersen at a dose of 12 mg (nusinersen group) or a sham procedure (control group) on days 1, 29, 85, and 274. The primary end point was …


Nusinersen Versus Sham Control In Later-Onset Spinal Muscular Atrophy, Eugenio Mercuri, Basil T Darras, Claudia A Chiriboga, John W Day, Craig Campbell, Anne M Connolly, Susan T Iannaccone, Janbernd Kirschner, Nancy L Kuntz, Kayoko Saito, Perry B Shieh, Már Tulinius, Elena S Mazzone, Jacqueline Montes, Kathie M Bishop, Qingqing Yang, Richard Foster, Sarah Gheuens, C Frank Bennett, Wildon Farwell, Eugene Schneider, Darryl C De Vivo, Richard S Finkel Feb 2018

Nusinersen Versus Sham Control In Later-Onset Spinal Muscular Atrophy, Eugenio Mercuri, Basil T Darras, Claudia A Chiriboga, John W Day, Craig Campbell, Anne M Connolly, Susan T Iannaccone, Janbernd Kirschner, Nancy L Kuntz, Kayoko Saito, Perry B Shieh, Már Tulinius, Elena S Mazzone, Jacqueline Montes, Kathie M Bishop, Qingqing Yang, Richard Foster, Sarah Gheuens, C Frank Bennett, Wildon Farwell, Eugene Schneider, Darryl C De Vivo, Richard S Finkel

Paediatrics Publications

Background

Nusinersen is an antisense oligonucleotide drug that modulates pre-messenger RNA splicing of the survival motor neuron 2 ( SMN2) gene. It has been developed for the treatment of spinal muscular atrophy (SMA).

Methods

We conducted a multicenter, double-blind, sham-controlled, phase 3 trial of nusinersen in 126 children with SMA who had symptom onset after 6 months of age. The children were randomly assigned, in a 2:1 ratio, to undergo intrathecal administration of nusinersen at a dose of 12 mg (nusinersen group) or a sham procedure (control group) on days 1, 29, 85, and 274. The primary end point was …


Early Procedural Pain Is Associated With Regionally-Specific Alterations In Thalamic Development In Preterm Neonates., Emma G Duerden, Ruth E Grunau, Ting Guo, Justin Foong, Alexander Pearson, Stephanie Au-Young, Raphael Lavoie, M Mallar Chakravarty, Vann Chau, Anne Synnes, Steven P Miller Jan 2018

Early Procedural Pain Is Associated With Regionally-Specific Alterations In Thalamic Development In Preterm Neonates., Emma G Duerden, Ruth E Grunau, Ting Guo, Justin Foong, Alexander Pearson, Stephanie Au-Young, Raphael Lavoie, M Mallar Chakravarty, Vann Chau, Anne Synnes, Steven P Miller

Brain and Mind Institute Researchers' Publications

Very preterm human neonates are exposed to numerous invasive procedures as part of life-saving care. Evidence suggests that repetitive neonatal procedural pain precedes long-term alterations in brain development. However, to date the link between pain and brain development has limited temporal and anatomic specificity. We hypothesized that early exposure to painful stimuli during a period of rapid brain development, before pain modulatory systems reach maturity, will predict pronounced changes in thalamic development, and thereby cognitive and motor function. In a prospective cohort study, 155 very preterm neonates (82 males, 73 females) born 24-32 weeks' gestation underwent two MRIs at median …


Canadian Guidelines For Controlled Pediatric Donation After Circulatory Determination Of Death-Summary Report, Matthew J Weiss, Laura Hornby, Bram Rochwerg, Michael Van Manen, Sonny Dhanani, V Ben Sivarajan, Amber Appleby, Mary Bennett, Daniel Buchman, Catherine Farrell, Aviva Goldberg, Rebecca Greenberg, Ram Singh, Thomas A Nakagawa, William Witteman, Jill Barter, Allon Beck, Kevin Coughlin, Alf Conradi, Cynthia Cupido, Rosanne Dawson, Anne Dipchand, Darren Freed, Karen Hornby, Valerie Langlois, Cheryl Mack, Meagan Mahoney, Deepak Manhas, Christopher Tomlinson, Samara Zavalkoff, Sam D Shemie Nov 2017

Canadian Guidelines For Controlled Pediatric Donation After Circulatory Determination Of Death-Summary Report, Matthew J Weiss, Laura Hornby, Bram Rochwerg, Michael Van Manen, Sonny Dhanani, V Ben Sivarajan, Amber Appleby, Mary Bennett, Daniel Buchman, Catherine Farrell, Aviva Goldberg, Rebecca Greenberg, Ram Singh, Thomas A Nakagawa, William Witteman, Jill Barter, Allon Beck, Kevin Coughlin, Alf Conradi, Cynthia Cupido, Rosanne Dawson, Anne Dipchand, Darren Freed, Karen Hornby, Valerie Langlois, Cheryl Mack, Meagan Mahoney, Deepak Manhas, Christopher Tomlinson, Samara Zavalkoff, Sam D Shemie

Paediatrics Publications

OBJECTIVES: Create trustworthy, rigorous, national clinical practice guidelines for the practice of pediatric donation after circulatory determination of death in Canada.

METHODS: We followed a process of clinical practice guideline development based on World Health Organization and Canadian Medical Association methods. This included application of Grading of Recommendations Assessment, Development, and Evaluation methodology. Questions requiring recommendations were generated based on 1) 2006 Canadian donation after circulatory determination of death guidelines (not pediatric specific), 2) a multidisciplinary symposium of national and international pediatric donation after circulatory determination of death leaders, and 3) a scoping review of the pediatric donation after circulatory …


Legionellosis Following Water Birth In A Hot Tub In A Canadian Neonate, Michelle Barton, Brianna Mckelvie, Aaron Campigotto, Tara Mullowney Oct 2017

Legionellosis Following Water Birth In A Hot Tub In A Canadian Neonate, Michelle Barton, Brianna Mckelvie, Aaron Campigotto, Tara Mullowney

Paediatrics Publications

No abstract provided.


Therapeutic And Prognostic Implications Of Braf V600e In Pediatric Low-Grade Gliomas., Alvaro Lassaletta, Michal Zapotocky, Matthew Mistry, Vijay Ramaswamy, Marion Honnorat, Rahul Krishnatry, Ana Guerreiro Stucklin, Nataliya Zhukova, Anthony Arnoldo, Scott Ryall, Catriona Ling, Tara Mckeown, Jim Loukides, Ofelia Cruz, Carmen De Torres, Cheng-Ying Ho, Roger J Packer, Ruth Tatevossian, Ibrahim Qaddoumi, Julie H Harreld, James D Dalton, Jean Mulcahy-Levy, Nicholas Foreman, Matthias A Karajannis, Shiyang Wang, Matija Snuderl, Amulya Nageswara Rao, Caterina Giannini, Mark Kieran, Keith L Ligon, Maria Luisa Garre, Paolo Nozza, Samantha Mascelli, Alessandro Raso, Sabine Mueller, Theodore Nicolaides, Karen Silva, Romain Perbet, Alexandre Vasiljevic, Cécile Faure Conter, Didier Frappaz, Sarah Leary, Courtney Crane, Aden Chan, Ho-Keung Ng, Zhi-Feng Shi, Ying Mao, Elizabeth Finch, David Eisenstat, Bev Wilson, Anne Sophie Carret, Peter Hauser, David Sumerauer, Lenka Krskova, Valerie Larouche, Adam Fleming, Shayna Zelcer, Nada Jabado, James T Rutka, Peter Dirks, Michael D Taylor, Shiyi Chen, Ute Bartels, Annie Huang, David W Ellison, Eric Bouffet, Cynthia Hawkins, Uri Tabori Sep 2017

Therapeutic And Prognostic Implications Of Braf V600e In Pediatric Low-Grade Gliomas., Alvaro Lassaletta, Michal Zapotocky, Matthew Mistry, Vijay Ramaswamy, Marion Honnorat, Rahul Krishnatry, Ana Guerreiro Stucklin, Nataliya Zhukova, Anthony Arnoldo, Scott Ryall, Catriona Ling, Tara Mckeown, Jim Loukides, Ofelia Cruz, Carmen De Torres, Cheng-Ying Ho, Roger J Packer, Ruth Tatevossian, Ibrahim Qaddoumi, Julie H Harreld, James D Dalton, Jean Mulcahy-Levy, Nicholas Foreman, Matthias A Karajannis, Shiyang Wang, Matija Snuderl, Amulya Nageswara Rao, Caterina Giannini, Mark Kieran, Keith L Ligon, Maria Luisa Garre, Paolo Nozza, Samantha Mascelli, Alessandro Raso, Sabine Mueller, Theodore Nicolaides, Karen Silva, Romain Perbet, Alexandre Vasiljevic, Cécile Faure Conter, Didier Frappaz, Sarah Leary, Courtney Crane, Aden Chan, Ho-Keung Ng, Zhi-Feng Shi, Ying Mao, Elizabeth Finch, David Eisenstat, Bev Wilson, Anne Sophie Carret, Peter Hauser, David Sumerauer, Lenka Krskova, Valerie Larouche, Adam Fleming, Shayna Zelcer, Nada Jabado, James T Rutka, Peter Dirks, Michael D Taylor, Shiyi Chen, Ute Bartels, Annie Huang, David W Ellison, Eric Bouffet, Cynthia Hawkins, Uri Tabori

Paediatrics Publications

Purpose BRAF V600E is a potentially highly targetable mutation detected in a subset of pediatric low-grade gliomas (PLGGs). Its biologic and clinical effect within this diverse group of tumors remains unknown.

Patients and Methods A combined clinical and genetic institutional study of patients with PLGGs with long-term follow-up was performed (N = 510). Clinical and treatment data of patients with BRAF V600E mutated PLGG (n = 99) were compared with a large international independent cohort of patients with BRAF V600E mutated-PLGG (n = 180).

Results BRAF V600E mutation was detected in 69 of 405 patients (17%) with PLGG across a …


Parents' Experiences And Perceptions When Classifying Their Children With Cerebral Palsy: Recommendations For Service Providers., Natalie V Scime, Doreen J Bartlett, Laura K Brunton, Robert J Palisano Aug 2017

Parents' Experiences And Perceptions When Classifying Their Children With Cerebral Palsy: Recommendations For Service Providers., Natalie V Scime, Doreen J Bartlett, Laura K Brunton, Robert J Palisano

Physical Therapy Publications

AIMS: This study investigated the experiences and perceptions of parents of children with cerebral palsy (CP) when classifying their children using the Gross Motor Function Classification System (GMFCS), the Manual Ability Classification System (MACS), and the Communication Function Classification System (CFCS). The second aim was to collate parents' recommendations for service providers on how to interact and communicate with families.

METHODS: A purposive sample of seven parents participating in the On Track study was recruited. Semi-structured interviews were conducted orally and were audiotaped, transcribed, and coded openly. A descriptive interpretive approach within a pragmatic perspective was used during analysis.

RESULTS: …


Brain Biomarkers And Pre-Injury Cognition Are Associated With Long-Term Cognitive Outcome In Children With Traumatic Brain Injury, Amy A Wilkinson, Maureen Dennis, Nevena Simic, Margot J Taylor, Benjamin R Morgan, Helena Frndova, Karen Choong, Craig Campbell, Douglas Fraser, Vicki Anderson, Anne-Marie Guerguerian, Russell Schachar, Jamie Hutchison Jul 2017

Brain Biomarkers And Pre-Injury Cognition Are Associated With Long-Term Cognitive Outcome In Children With Traumatic Brain Injury, Amy A Wilkinson, Maureen Dennis, Nevena Simic, Margot J Taylor, Benjamin R Morgan, Helena Frndova, Karen Choong, Craig Campbell, Douglas Fraser, Vicki Anderson, Anne-Marie Guerguerian, Russell Schachar, Jamie Hutchison

Paediatrics Publications

BACKGROUND: Children with traumatic brain injury (TBI) are frequently at risk of long-term impairments of attention and executive functioning but these problems are difficult to predict. Although deficits have been reported to vary with injury severity, age at injury and sex, prognostication of outcome remains imperfect at a patient-specific level. The objective of this proof of principle study was to evaluate a variety of patient variables, along with six brain-specific and inflammatory serum protein biomarkers, as predictors of long-term cognitive outcome following paediatric TBI.

METHOD: Outcome was assessed in 23 patients via parent-rated questionnaires related to attention deficit hyperactivity disorder …


Guideline For The Prevention Of Oral And Oropharyngeal Mucositis In Children Receiving Treatment For Cancer Or Undergoing Haematopoietic Stem Cell Transplantation, Lillian Sung, Paula Robinson, Nathaniel Treister, Tina Baggott, Paul Gibson, Wim Tissing, John Wiernikowski, Jennifer Brinklow, L Lee Dupuis Mar 2017

Guideline For The Prevention Of Oral And Oropharyngeal Mucositis In Children Receiving Treatment For Cancer Or Undergoing Haematopoietic Stem Cell Transplantation, Lillian Sung, Paula Robinson, Nathaniel Treister, Tina Baggott, Paul Gibson, Wim Tissing, John Wiernikowski, Jennifer Brinklow, L Lee Dupuis

Paediatrics Publications

PURPOSE: To develop an evidence-based clinical practice guideline for the prevention of oral mucositis in children (0-18 years) receiving treatment for cancer or undergoing haematopoietic stem cell transplantation (HSCT).

METHODS: The Mucositis Prevention Guideline Development Group was interdisciplinary and included internationally recognised experts in paediatric mucositis. For the evidence review, we included randomised controlled trials (RCTs) conducted in either children or adults evaluating the following interventions selected according to prespecified criteria: cryotherapy, low level light therapy (LLLT) and keratinocyte growth factor (KGF). We also examined RCTs of any intervention conducted in children. For all systematic reviews, we synthesised the occurrence …


Evaluation Of Treatment-Related Mortality Among Paediatric Cancer Deaths: A Population Based Analysis., Jason D Pole, Paul Gibson, Marie-Chantal Ethier, Tanya Lazor, Donna L Johnston, Carol Portwine, Mariana Silva, Sarah Alexander, Lillian Sung Feb 2017

Evaluation Of Treatment-Related Mortality Among Paediatric Cancer Deaths: A Population Based Analysis., Jason D Pole, Paul Gibson, Marie-Chantal Ethier, Tanya Lazor, Donna L Johnston, Carol Portwine, Mariana Silva, Sarah Alexander, Lillian Sung

Paediatrics Publications

BACKGROUND: Objectives were to describe the proportion of deaths due to treatment-related mortality (TRM) and to identify risk factors and probable causes of TRM among paediatric cancer deaths in a population-based cohort.

METHODS: We included children with cancer ⩽18 years diagnosed and treated in Ontario who died between January 2003 and December 2012. Deaths were identified using a provincial registry, the Pediatric Oncology Group of Ontario Networked Information System. Probable causes of TRM were described.

RESULTS: Among the 964 deaths identified, 821 were included. The median age at diagnosis was 6.6 years (range 0-18.8) and 51.8% had at least one …


Pediatric Emergency Care Capacity In A Low-Resource Setting: An Assessment Of District Hospitals In Rwanda, Celestin Hategeka, Jean Shoveller, Lisine Tuyisenge, Cynthia Kenyon, David F Cechetto, Larry D Lynd Jan 2017

Pediatric Emergency Care Capacity In A Low-Resource Setting: An Assessment Of District Hospitals In Rwanda, Celestin Hategeka, Jean Shoveller, Lisine Tuyisenge, Cynthia Kenyon, David F Cechetto, Larry D Lynd

Paediatrics Publications

BACKGROUND: Health system strengthening is crucial to improving infant and child health outcomes in low-resource countries. While the knowledge related to improving newborn and child survival has advanced remarkably over the past few decades, many healthcare systems in such settings remain unable to effectively deliver pediatric advance life support management. With the introduction of the Emergency Triage, Assessment and Treatment plus Admission care (ETAT+)-a locally adapted pediatric advanced life support management program-in Rwandan district hospitals, we undertook this study to assess the extent to which these hospitals are prepared to provide this pediatric advanced life support management. The results of …


Maternal Postsecondary Education Associated With Improved Cerebellar Growth After Preterm Birth., Mikaela L Stiver, Daphne Kamino, Ting Guo, Angela Thompson, Emma G Duerden, Margot J Taylor, Emily W Y Tam Oct 2015

Maternal Postsecondary Education Associated With Improved Cerebellar Growth After Preterm Birth., Mikaela L Stiver, Daphne Kamino, Ting Guo, Angela Thompson, Emma G Duerden, Margot J Taylor, Emily W Y Tam

Brain and Mind Institute Researchers' Publications

The preterm cerebellum is vulnerable to impaired development impacting long-term outcome. Preterm newborns (<32 >weeks) underwent serial magnetic resonance imaging (MRI) scans. The association between parental education and cerebellar volume at each time point was assessed, adjusting for age at scan. In 26 infants, cerebellar volumes at term (P = .001), but not birth (P = .4), were associated with 2-year volumes. For 1 cm(3) smaller cerebellar volume (4% total volume) at term, the cerebellum was 3.18 cm(3) smaller (3% total volume) by 2 years. Maternal postsecondary education was not associated with cerebellar volume at term (P = .16). Maternal …


Tract-Based Spatial Statistics In Preterm-Born Neonates Predicts Cognitive And Motor Outcomes At 18 Months., E G Duerden, J Foong, V Chau, H Branson, K J Poskitt, R E Grunau, A Synnes, J G Zwicker, S P Miller Aug 2015

Tract-Based Spatial Statistics In Preterm-Born Neonates Predicts Cognitive And Motor Outcomes At 18 Months., E G Duerden, J Foong, V Chau, H Branson, K J Poskitt, R E Grunau, A Synnes, J G Zwicker, S P Miller

Brain and Mind Institute Researchers' Publications

BACKGROUND AND PURPOSE: Adverse neurodevelopmental outcome is common in children born preterm. Early sensitive predictors of neurodevelopmental outcome such as MR imaging are needed. Tract-based spatial statistics, a diffusion MR imaging analysis method, performed at term-equivalent age (40 weeks) is a promising predictor of neurodevelopmental outcomes in children born very preterm. We sought to determine the association of tract-based spatial statistics findings before term-equivalent age with neurodevelopmental outcome at 18-months corrected age.

MATERIALS AND METHODS: Of 180 neonates (born at 24-32-weeks' gestation) enrolled, 153 had DTI acquired early at 32 weeks' postmenstrual age and 105 had DTI acquired later at …


Pthrp-Related Hypercalcaemia In Infancy And Congenital Anomalies Of The Kidney And Urinary Tract (Cakut), Nardeen Kodous, Guido Filler, Ajay Parkash Sharma, Tamara Angela Van Hooren May 2015

Pthrp-Related Hypercalcaemia In Infancy And Congenital Anomalies Of The Kidney And Urinary Tract (Cakut), Nardeen Kodous, Guido Filler, Ajay Parkash Sharma, Tamara Angela Van Hooren

Paediatrics Publications

BACKGROUND: Severe hypercalcaemia is a rare but clinically significant condition in infancy and childhood. Parathyroid hormone-related peptide (PTHrP)-mediated hypercalcaemia resulting from a malignancy is rare and only a handful of case reports have outlined its incidence alongside a benign condition.

OBJECTIVES: To describe the diagnostic workup and management of an infant with hypercalcaemia, renal dysplasia, and elevated PTHrP levels.

DESIGN: Case report.

SETTING: The Victoria Hospital campus of the London Health Sciences Centre in London, Ontario, Canada.

PATIENTS: A child with congenital anomalies of the kidneys and urinary tract (CAKUT), stage 2 chronic kidney disease (CKD), and renal dysplasia who …


Male Gender Promotes An Increased Inflammatory Response To Lipopolysaccharide In Umbilical Vein Blood., Shunaha Kim-Fine, Timothy Regnault, James S Lee, Sarah A Gimbel, Jill A Greenspoon, Jonathan Fairbairn, Kelly Summers, Barbra De Vrijer Nov 2012

Male Gender Promotes An Increased Inflammatory Response To Lipopolysaccharide In Umbilical Vein Blood., Shunaha Kim-Fine, Timothy Regnault, James S Lee, Sarah A Gimbel, Jill A Greenspoon, Jonathan Fairbairn, Kelly Summers, Barbra De Vrijer

Paediatrics Publications

OBJECTIVES: To establish gender-specific differences in maternal and fetal immune response in healthy human fetuses at term.

METHODS: Forty-five women with elective caesarean sections for uncomplicated singleton pregnancies were recruited for two studies. Using a multiplex biomarker immunoassay system, unstimulated maternal and fetal plasma concentrations of interleukin (IL)-1β, IL-1ra, IL-6, IL-8, macrophage inflammatory protein (MIP)-1α, and tumor necrosis factor (TNF)-α were measured from one study population. Lipopolysaccharide (LPS)-stimulated cytokine response was measured in a second study.

RESULTS: There were no significant gender differences in either maternal or fetal unstimulated plasma cytokine concentrations, but concentrations of the proinflammatory cytokines IL-1β and …


Investigating The Causes Of Low Birth Weight In Contrasting Ovine Paradigms., J M Wallace, Timothy Regnault, S W Limesand, W W Hay, R V Anthony May 2005

Investigating The Causes Of Low Birth Weight In Contrasting Ovine Paradigms., J M Wallace, Timothy Regnault, S W Limesand, W W Hay, R V Anthony

Paediatrics Publications

Intrauterine growth restriction (IUGR) still accounts for a large incidence of infant mortality and morbidity worldwide. Many of the circulatory and transport properties of the sheep placenta are similar to those of the human placenta and as such, the pregnant sheep offers an excellent model in which to study the development of IUGR. Two natural models of ovine IUGR are those of hyperthermic exposure during pregnancy, and adolescent overfeeding, also during pregnancy. Both models yield significantly reduced placental weights and an asymmetrically growth-restricted fetus, and display altered maternal hormone concentrations, indicative of an impaired trophoblast capacity. Additionally, impaired placental angiogenesis …