Medicine and Health Sciences Commons^™

Prevalence And Clinical Features Of Inflammatory Bowel Diseases Associated With Monogenic Variants, Identified By Whole-Exome Sequencing In 1000 Children At A Single Center, Eileen Crowley, Neil Warner, Jie Pan, Sam Khalouei, Abdul Elkadri, Karoline Fiedler, Justin Foong, Andrei L Turinsky, Dana Bronte-Tinkew, Shiqi Zhang

Paediatrics Publications

BACKGROUND & AIMS: A proportion of infants and young children with inflammatory bowel diseases (IBDs) have subtypes associated with a single gene variant (monogenic IBD). We aimed to determine the prevalence of monogenic disease in a cohort of pediatric patients with IBD.

METHODS: We performed whole-exome sequencing analyses of blood samples from an unselected cohort of 1005 children with IBD, aged 0-18 years (median age at diagnosis, 11.96 years) at a single center in Canada and their family members (2305 samples total). Variants believed to cause IBD were validated using Sanger sequencing. Biopsies from patients were analyzed by immunofluorescence and …

Randomized Phase 2 Trial And Open-Label Extension Of Domagrozumab In Duchenne Muscular Dystrophy., Kathryn R. Wagner, Hoda Z. Abdel-Hamid, Jean K. Mah, Craig Campbell, Michela Guglieri, Francesco Muntoni, Yasuhiro Takeshima, Craig M. Mcdonald, Anna Kostera-Pruszczyk, Peter Karachunski, Russell J. Butterfield, Eugenio Mercuri, Chiara Fiorillo, Enrico S. Bertini, Cuixia Tian, Jeffery Statland, Alesia B. Sadosky, Vivek S. Purohit, Sarah P. Sherlock, Jeffrey P. Palmer, Michael Binks, Lawrence Charnas, Shannon Marraffino, Brenda L. Wong

Paediatrics Publications

We report results from a phase 2, randomized, double-blind, 2-period trial (48 weeks each) of domagrozumab and its open-label extension in patients with Duchenne muscular dystrophy (DMD). Of 120 ambulatory boys (aged 6 to <16 >years) with DMD, 80 were treated with multiple ascending doses (5, 20, and 40 mg/kg) of domagrozumab and 40 treated with placebo. The primary endpoints were safety and mean change in 4-stair climb (4SC) time at week 49. Secondary endpoints included other functional tests, pharmacokinetics, and pharmacodynamics. Mean (SD) age was 8.4 (1.7) and 9.3 (2.3) years in domagrozumab- and placebo-treated patients, respectively. Difference in mean …

Authorizing Medical Cannabis For Children., Michael Rieder

Paediatrics Publications

No abstract provided.

Determining A Bayesian Predictive Power Stopping Rule For Futility In A Non-Inferiority Trial With Binary Outcomes., Anna Heath, Martin Offringa, Petros Pechlivanoglou, Juan David Rios, Terry P Klassen, Naveen Poonai, Eleanor Pullenayegum

Paediatrics Publications

Background/Aims: Non-inferiority trials investigate whether a novel intervention, which typically has other benefits (i.e., cheaper or safer), has similar clinical effectiveness to currently available treatments. In situations where interim evidence in a non-inferiority trial suggests that the novel treatment is truly inferior, ethical concerns with continuing randomisation to the "inferior" intervention are raised. Thus, if interim data indicate that concluding non-inferiority at the end of the trial is unlikely, stopping for futility should be considered. To date, limited examples are available to guide the development of stopping rules for non-inferiority trials.

Methods: We used a Bayesian predictive power approach to …

A Systematic Review For The Management Of The Genetically Defined Il-1-Mediated Autoinflammatory Diseases, Caps, Traps, Mkd And Dira, R. Berard, M. Romano, Zs Arici, D. Piskin, O. Jones, K. Durrant, R. Goldbach-Mansky, M. Gattorno, E. Demirkaya

Paediatrics Publications

No abstract provided.

The Impact Of Covid-19 On Canadian Urology Residents, Ernest Pang Chan, Leandra Stringer, Peter Z.T. Wang, Sumit Dave, Jeffrey D. Campbell

Paediatrics Publications

No abstract provided.

Feminizing Genitoplasty In A Young Girl With Glanzmann's Thrombasthenia-Management Of Haemostasis, Kashaf Khalid Turk, Zafar Nazir

Section of Paediatric Surgery

We report peri- and post-operative management of haemostasis in a 11-year old girl with Glanzmann Thrombasthenia (GT) who had feminizing genitoplasty for genital ambiguity due to Congenital Adrenal Hyperplasia (CAH-21 Hydroxylase deficiency). A blend of Glanzmann Thrombasthenia (GT) and DSD 46XX due to CAH is not reported in literature. Surgery particularly genitourinary reconstruction in patients with GT is challenging due to risk of intra and post-operative bleeding. Haemostasis can successfully be achieved with platelet transfusions, antifibrinolytic (Tranexamic acid) and judicious use of recombinant factor VIIa (rFVIIa) even in a resource limited setting.

Bilateral Pulmonary Metastases Of Papillary Thyroid Carcinoma In A 12-Year-Old Child-A Case Report And Review Of The Literature., V Thirumala, C O'Souji, S Thirumala

Articles, Abstracts, and Reports

Metastatic disease of the lung has been extensively documented in the adult patient population. The most common primary sources for pulmonary metastases include breast, colon gastrointestinal including pancreas and urinary bladder. Malignant lung tumors in pediatric population is extremely rare. However, like in adult patient population, metastases are more common than primary tumors in lung in pediatric patients. Metastatic spread of tumors can occur both by way of hematogenous spread and lymphatic pathways. We present a rare case of biopsy proven metastatic thyroid carcinoma in the lung in a 12-year-old male child masquerading as bilateral miliary nodules on imaging studies. …

Prevalence Of Vitamin D Deficiency In Exclusively Breastfed Infants At A Tertiary Healthcare Facility In Nairobi, Kenya, Nusrat Abubakar, Rose Kamenwa, Mary Limbe, Mitchel Otieno Okumu, William Macharia

Paediatrics and Child Health, East Africa

Objective: To determine the prevalence of vitamin D deficiency (VDD) in exclusively breastfed infants at the Aga Khan University Hospital Nairobi, Kenya (AKUHN). The relationships between 25-hydroxyvitamin D; 25OHD, parathyroid hormone (PTH), maternal vitamin D supplementation, and sunlight exposure were also determined.

Subjects and methods: Blood from 98 infants was assayed for 25OHD, calcium, phosphate, and PTH. Socio-demographic and clinical characteristics were analyzed using descriptive statistics and inferential analysis (p < 0.05).

Results: The prevalence of VDD (25OHD <12 ng/mL), vitamin D insufficiency (VDI, 25OHD 12-20 ng/mL) and vitamin D sufficiency (VDS, 25OHD >20 ng/mL) was 11.2% (95% CI 8.0%-14.4%), 12.2% (95% CI 8.9%-15.5%), and 76.5% (95% CI 72.3%-80.8%) respectively. There was no difference in the …

The Perception Of Prosody In English-Speaking Children With Cochlear Implants: A Systematic Review, Grace R. Smith

Dissertations, Theses, and Capstone Projects

Objective: The goal of this paper was to systematically review literature in order to investigate the perception of prosody in English-speaking children with cochlear implants.

Methods: A comprehensive search utilizing various peer-reviewed databases accessible through the City University of New York (CUNY) Graduate Center Library was conducted to identify relevant studies. Inclusion criteria included studies that examined prosody perception in pre-and post-lingually deafened children with cochlear implants. Children who utilized unilateral, bilateral, and bimodal configurations of cochlear implants were therefore included in this search.

Results: 9 studies met the inclusion criteria for this systematic review. The findings …

Postnatal Loss Of The Insulin Receptor In Osteoprogenitor Cells Does Not Impart A Metabolic Phenotype, John L. Fowlkes, R. Clay Bunn, Evangelia Kalaitzoglou, Phil Ray, Iuliana Popescu, Kathryn M. Thrailkill

Barnstable Brown Diabetes Center Faculty Publications

The relationship between osteoblast-specific insulin signaling, osteocalcin activation and gluco-metabolic homeostasis has proven to be complex and potentially inconsistent across animal-model systems and in humans. Moreover, the impact of postnatally acquired, osteoblast-specific insulin deficiency on the pancreas-to-skeleton-to-pancreas circuit has not been studied. To explore this relationship, we created a model of postnatal elimination of insulin signaling in osteoprogenitors. Osteoprogenitor-selective ablation of the insulin receptor was induced after ~10 weeks of age in IR^l°^x/lox/Osx-Cre^+/− genotypic male and female mice (designated postnatal-OIRKO). At ~21 weeks of age, mice were then phenotypically and metabolically characterized. Postnatal-OIRKO mice demonstrated …

Multicenter Clinical Evaluation Of The Revogene Strep A Molecular Assay For Detection Of Streptococcus Pyogenes From Throat Swab Specimens, Dithi Banerjee, Jeff Michael, B. Schmitt, H. Salimnia, N. Mhaissen, D. M. Goldfarb, P. Lachance, M. L. Faron, T. Aufderheide, N. Ledeboer, A. Weissfeld, Rangaraj Selvarangan

Manuscripts, Articles, Book Chapters and Other Papers

Copyright © 2020 Banerjee et al. This is an open-access article distributed under the terms of the Creative Commons Attribution 4.0 International license Group A streptococcus (GAS) species cause bacterial pharyngitis in both adults and children. Early and accurate diagnosis of GAS is important for appropriate antibiotic therapy to prevent GAS sequalae. The Revogene Strep A molecular assay (Meridian Bioscience Canada Inc, Quebec City, QC, Canada) is an automated real-time PCR assay for GAS detection from throat swab specimens within approximately 70 min. This multicenter prospective study evaluated the performance of the Revogene Strep A molecular assay compared to that …

Intergrowth-21st Project International Inter-Nda Standards For Child Development At 2 Years Of Age: An International Prospective Population-Based Study, Michelle Fernandes, José Villar, Alan Stein, Eleonora Staines Urias, Cutberto Garza, Cesar G. Victora, Fernando C. Barros, Enrico Bertino, Maria Carvalho, Amina Abubakar, Roseline Ochieng

Obstetrics and Gynaecology, East Africa

Objectives To describe the construction of the international INTERGROWTH-21st Neurodevelopment Assessment (INTER-NDA) standards for child development at 2 years by reporting the cognitive, language, motor and behaviour outcomes in optimally healthy and nourished children in the INTERGROWTH-21st Project.

Design Population-based cohort study, the INTERGROWTH-21st Project.

Setting Brazil, India, Italy, Kenya and the UK.

Participants 1181 children prospectively recruited from early fetal life according to the prescriptive WHO approach, and confirmed to be at low risk of adverse perinatal and postnatal outcomes.

Primary measures Scaled INTER-NDA domain scores for cognition, language, fine and gross motor skills and behaviour; vision outcomes measured …

Brain Abscess And The Nonfenestrated Fontan Circulation, Bethany Runkel, William B. Drake, Geetha Raghuveer

Manuscripts, Articles, Book Chapters and Other Papers

Brain abscess is a rare but life-threatening condition. Intracardiac or extracardiac right-to-left shunting in patients with unrepaired cyanotic congenital heart disease, pulmonary arteriovenous malformations, or venovenous collaterals allows microbes unfiltered access to the brain. Brain abscess must be considered when cyanotic patients present with headache.

Sleep Patterns And Problems Among Children With 22q11 Deletion Syndrome., Jill M. Arganbright, Meghan Tracy, Susan Starling Hughes, David G. Ingram Md

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: To delineate sleep habits and problems in children with 22q11.2 deletion syndrome (22q11DS).

METHODS: Thirty children, age 1-15 (mean 6.8) years, participated in the study, which was an internet-based anonymous survey of parents of children with 22q11DS administered via the 22q11.2 Foundation. The main outcome was the Childhood Sleep Habits Questionnaire (CSHQ).

RESULTS: Scores on the CSHQ demonstrated clinically significant sleep problems in 29 of the 30 children. When compared with previously reported normative values for typically developing children of the same age, children with 22q11DS had significantly greater sleep problems. Only 30% of children had previously undergone sleep …

Mild Traumatic Brain Injury: Parental Education For An Active Child, Elizabeth W. Roth

Theses and Graduate Projects

Mild traumatic brain injuries in the pediatric population are prevalent and pervasive. Identification and recognition of concussion symptoms is complicated by variable symptom manifestation and duration. The purpose of this evidence-based DNP project was to implement a concussion education intervention to increase parental recognition and knowledge regarding pediatric concussions. Individualized, in-person education, evidence-based injury prevention, symptom recognition, and collaboration encouraged lifestyle modification to reduce childhood injuries. Evaluation of parental concerns concluded a desire for future health promotion education resulting in bimonthly meetings to further improve personal, familial, and professional health.

Multi-Dose Oral Ondansetron For Pediatric Gastroenteritis: Study Protocol For The Multi-Dose Oral Ondansetron For Pediatric Acute Gastroenteritis (Dose-Age) Pragmatic Randomized Controlled Trial, Stephen B Freedman, Sarah Williamson-Urquhart, Anna Heath, Petros Pechlivanoglou, Gareth Hopkin, Serge Gouin, Amy C Plint, Andrew Dixon, Darcy Beer, Gary Joubert, Christopher Mccabe, Yaron Finkelstein, Terry P Klassen

Paediatrics Publications

BACKGROUND: There are limited treatment options that clinicians can provide to children presenting to emergency departments with vomiting secondary to acute gastroenteritis. Based on evidence of effectiveness and safety, clinicians now routinely administer ondansetron in the emergency department to promote oral rehydration therapy success. However, clinicians are also increasingly providing multiple doses of ondansetron for home use, creating unquantified cost and health system resource use implications without any evidence to support this expanding practice.

METHODS/DESIGN: DOSE-AGE is a randomized, placebo-controlled, double-blinded, six-center, pragmatic clinical trial being conducted in six Canadian pediatric emergency departments (EDs). In September 2019 the study began …

C'Est Vraiment Compliqué: A Case Study On The Delivery Of Maternal And Child Health And Nutrition Interventions In The Conflict-Affected Regions Of Mali, Anushka Ataullahjan, Michelle F. Gaffey, Moctar Tounkara, Samba Diarra, Seydou Doumbia, Zulfiqar Ahmed Bhutta, Diego G. Bassani

Woman and Child Health

Background: Mali is currently in the midst of ongoing conflicts which involve jihadist groups, rebels, and the state. This conflict has primarily centered in the North of the country. Humanitarian actors delivering services in these geographies must navigate the complex environment created by conflict. This study aimed to understand how humanitarian actors make decisions around health service delivery within this context.
Methods: The current case-study utilized a mixed methods approach and focused on Mopti, Mali's fifth administrative region and fourth largest in population. Latent content analysis was used to analyze interview transcripts guided by our research objectives and new concepts …

Understanding The Factors Affecting The Humanitarian Health And Nutrition Response For Women And Children In Somalia Since 2000: A Case Study, Zahra Ahmed, Anushka Ataullahjan, Michelle F. Gaffey, Mohamed Osman, Chantal Umutoni, Zulfiqar Ahmed Bhutta, Abdirisak A. Dalmar

Woman and Child Health

Background: Somalia has been ravaged by more than two decades of armed conflict causing immense damage to the country's infrastructure and mass displacement and suffering among its people. An influx of humanitarian actors has sought to provide basic services, including health services for women and children, throughout the conflict. This study aimed to better understand the humanitarian health response for women and children in Somalia since 2000.
Methods: The study utilized a mixed-methods design. We collated intervention coverage data from publically available large-scale household surveys and we conducted 32 interviews with representatives from government, UN agencies, NGOs, and health facility …

Impact Of Conflict On Maternal And Child Health Service Delivery - How And How Not: A Country Case Study Of Conflict Affected Areas Of Pakistan, Jai K. Das, Zahra Ali Padhani, Sultana Jabeen, Arjumand Rizvi, Uzair Ansari, Malika Fatima, Ghulam Akbar, Wardah Ahmed, Zulfiqar Ahmed Bhutta

Woman and Child Health

Introduction: In conflict affected countries, healthcare delivery remains a huge concern. Pakistan is one country engulfed with conflict spanning various areas and time spans. We aimed to explore the effect of conflict on provision of reproductive, maternal, newborn, child and adolescent health and nutrition (RMNCAH&N) services and describe the contextual factors influencing the prioritization and implementation in conflict affected areas of Pakistan (Balochistan and FATA).
Method: We conducted a secondary quantitative and a primary qualitative analysis. For the quantitative analysis, we stratified the various districts/agencies of Balochistan and FATA into the conflict categories of minimal-, moderate- and severe based on …

Investigating The Delivery Of Health And Nutrition Interventions For Women And Children In Conflict Settings: A Collection Of Case Studies From The Branch Consortium, Anushka Ataullahjan, Michelle F. Gaffey, Samira Sami, Neha S. Singh, Hannah Tappis, Robert E. Black, Karl Blanchet, Ties Boerma, Ana Langer, Paul B. Spiegel, Ronald J. Waldman, Paul H. Wise, Zulfiqar Ahmed Bhutta

Woman and Child Health

Globally, the number of people affected by conflict is the highest in history, and continues to steadily increase. There is currently a pressing need to better understand how to deliver critical health interventions to women and children affected by conflict. The compendium of articles presented in this Conflict and Health Collection brings together a range of case studies recently undertaken by the BRANCH Consortium (Bridging Research & Action in Conflict Settings for the Health of Women and Children). These case studies describe how humanitarian actors navigate and negotiate the multiple obstacles and forces that challenge the delivery of health and …

Association Between Chronic Kidney Disease-Mineral Bone Disease (Ckd-Mbd) And Cognition In Children: Chronic Kidney Disease In Children (Ckid) Study., Jennifer S. Yokoyama, Mina Matsuda-Abedini, Michelle R. Denburg, Juhi Kumar, Bradley A. Warady, Susan L. Furth, Stephen R. Hooper, Anthony A. Portale, Farzana Perwad

Manuscripts, Articles, Book Chapters and Other Papers

Rationale & objective: Chronic kidney disease (CKD) in children is associated with cognitive dysfunction that affects school performance and quality of life. The relationship between CKD-mineral and bone disorder and cognitive function in children is unknown.

Study design: Observational study.

Participants: 702 children enrolled in the Chronic Kidney Disease in Children (CKiD) Study.

Predictors: Plasma fibroblast growth factor 23 (FGF-23), parathyroid hormone (PTH), calcium, phosphorus, 25 hydroxyvitamin D (25[OH]D), and 1,25 dihydroxyvitamin D (1,25[OH]2D).

Outcomes: Neurocognitive tests of intelligence, academic achievement, and executive functions.

Analytical approach: Linear regression models to analyze the cross-sectional associations between log2FGF-23, 25(OH)D, 1,25(OH)2D, PTH, calcium, …

Unplugging: An Evidence-Based Project To Reduce Screen Time And Improve Healthy Media Use In The Adolescent Population, Erica Persichetti

Doctor of Nursing Practice Final Manuscripts

Abstract

Background:Excessive media use is an emerging health concern amongst the pediatric population. The American Academy of Pediatrics (AAP) recommends less than 2 hours per day of recreational screen time, yet the national average is between 7 to 9 hours per day for adolescents. A media-saturated lifestyle has consequences on a child’s mental, physical, and emotional health. Despite guidelines stating media use should be assessed at annual well-visits, only 16% of providers are following this recommendation. This gap in care leaves many families with a limited understanding of the impact of media on their child's health and represents a …

Dosing Common Medications In Hospitalized Pediatric Patients With Obesity: A Review, Barbara Ameer, Michael Weintraub

Department of Medicine Faculty Papers

Medication management in children and adolescents with obesity is challenging since both developmental and pathophysiologic changes may impact drug disposition and response. Evidence to date indicates an effect of obesity on drug disposition for certain drugs used in this population. This work identified published studies evaluating drug dosing, pharmacokinetics, and effect in pediatric patients with obesity, focusing on 70 common medications used in a pediatric network of 42 U.S. medical centers. A PubMed search revealed 33 studies providing pharmacokinetic and/or effectiveness data for 23% (16/70) of medications, 44% of which have just one study and can be considered exploratory. This …

Neonatal Abstinence Syndrome And Infant Hearing Assessment: A Kids’ Inpatient Database Review, Liza Creel, Adam Van Horn, Alex Hines, Matthew L. Bush

Journal of Early Hearing Detection and Intervention

Objective: Neonatal abstinence syndrome (NAS) has become an epidemic. This study assesses documented rates of failed newborn hearing screening (NBHS) or hearing loss diagnosis (HL) in NAS infants, and sociodemographic factors associated with abnormal inpatient hearing results.

Methods: The 2016 HCUP/KID national database was used to identify a weighted sample of infants with failed NBHS/HL during birth hospitalization. Independent variables included diagnoses of NAS/in-utero opioid exposure, HL risk factor presence and sociodemographic data. Univariate analyses and multivariate logistic regression were used to determine associations between NAS and abnormal hearing assessment.

Results:NAS infants had lower odds ratio (OR) of documented …

Challenges And Special Aspects Of Pulmonary Hypertension In Middle- To Low-Income Regions: Jacc State-Of-The-Art Review, Babar Hasan, Georg Hansmann, Werner Budts, Alexandra Heath, Zahra Hoodbhoy, Zhi-Cheng Jing, Martin Koestenberger, Katharina Meinel, Ana Olga Mocumbi, Ganna D. Radchenko

Department of Paediatrics and Child Health

Challenges and special aspects related to the management and prognosis of pulmonary hypertension (PH) in middle- to low-income regions (MLIRs) range from late presentation to comorbidities, lack of resources and expertise, cost, and rare options of lung transplantation. Expert consensus recommendations addressing the specific challenges for prevention and therapy of PH in MLIRs with limited resources have been lacking. To date, 6 MLIR-PH registries containing mostly adult patients with PH exist. Importantly, the global prevalence of PH is much higher in MLIRs compared with high-income regions: group 2 PH (left heart disease), pulmonary arterial hypertension associated with unrepaired congenital heart …

Change In Sex Of Rearing In Individuals With Disorders Of Sex Development, Michelle Knoll

Research Days

No abstract provided.

Knowledge Of Autism Spectrum Disorder In Medical Students And Residents, Laura Katherine Hansen, Tammy D. Barry

Research Days

No abstract provided.

Indomethacin Exposure Is Associated With Birthweight In Extremely Preterm Infants: Non-Standard Exposure With Standard Weight-Based Dosing, Bradley C. Stockard

Research Days

No abstract provided.

Iv Amiodarone Vs Iv Sotalol For The Use In Postoperative Junctional Ectopic Tachycardia (Jet): A Randomized Study, Tanner Isaacson

Research Days

No abstract provided.