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The Effect Of Pigmentation On Latex And Non-Latex Orthodontic Elastics, Dustin Wilson Dec 2020

The Effect Of Pigmentation On Latex And Non-Latex Orthodontic Elastics, Dustin Wilson

Electronic Thesis and Dissertation Repository

Background: Intraoral Elastics have been widely used in Orthodontics for well over 100 years. Changes in material composition, manufacturing and addition of color to elastics has shown to effect force levels over time.

Aim: The purpose of the study was to determine the effect of pigmentation on force levels and their degradation over time in both Latex and Non-Latex orthodontic intraoral elastics.

Materials & Methods: Groups consisted of elastics in Latex from American Orthodontics in both natural and four different colors, American Orthodontics Non-Latex in natural, Ormco Latex in both natural and four different colors, Auradonics Latex in both natural …


Evidence Of An Antigen Presenting Cell Phenotype In Granular Cell Tumours, Benjamin J W A Rogala Dec 2020

Evidence Of An Antigen Presenting Cell Phenotype In Granular Cell Tumours, Benjamin J W A Rogala

Electronic Thesis and Dissertation Repository

Granular Cell Tumours (GCTs) are rare subepithelial lesions that are believed to develop from Schwann cells and are characterized by large polygonal cells with abundant lysosomes. Pilot studies from our laboratory showing unexpected HLA-DR immunoreactivity in GCTs lead us to hypothesize that GCTs have an antigen presenting cell (APC) phenotype.

To test our hypothesis, we assessed immunoreactivity of GCT lesions to APC phenotype markers, including CD68, HLA-DR, CD163, CD40 and CD11c. In addition, we assessed markers of neural crest cell (NCC) origin S100, SOX10, NSE and GAP43. Samples subjected to these studies included 23 cases of GCTs and 10 cases …


Cortico-Subcortical Functional Connectivity Profiles Of Resting-State Networks In Marmosets And Humans, Yuki Hori, David J. Schaeffer, Atsushi Yoshida, Justine C. Cléry, Lauren K. Hayrynen, Joseph S. Gati, Ravi S. Menon, Stefan Everling Nov 2020

Cortico-Subcortical Functional Connectivity Profiles Of Resting-State Networks In Marmosets And Humans, Yuki Hori, David J. Schaeffer, Atsushi Yoshida, Justine C. Cléry, Lauren K. Hayrynen, Joseph S. Gati, Ravi S. Menon, Stefan Everling

Brain and Mind Institute Researchers' Publications

Copyright © 2020 the authors Understanding the similarity of cortico-subcortical networks topologies between humans and nonhuman primate species is critical to study the origin of network alternations underlying human neurologic and neuropsychiatric diseases. The New World common marmoset (Callithrix jacchus) has become popular as a nonhuman primate model for human brain function. Most marmoset connectomic research, however, has exclusively focused on cortical areas, with connectivity to subcortical networks less extensively explored. Here, we aimed to first isolate patterns of subcortical connectivity with cortical resting-state networks in awake marmosets using resting-state fMRI, then to compare these networks with those in humans …


Mood And Anxiety Disorders, Measurement, And Migrant Groups In Ontario, Jordan Edwards Oct 2020

Mood And Anxiety Disorders, Measurement, And Migrant Groups In Ontario, Jordan Edwards

Electronic Thesis and Dissertation Repository

Our objectives were to: (1) evaluate the current literature on the epidemiology of mood or anxiety disorders among migrant groups; (2) assess how current tools for measuring mood or anxiety disorders at the population level influence our understanding of the epidemiology by a) analyzing the concordance between two commonly used population measures, and b) using a Bayesian analysis to create a combined estimate using both measures; (3) estimate the prevalence and effects of potential risk factors on the prevalence of mood or anxiety disorders among first-generation migrant groups compared to the general population in Ontario. We conducted a systematic review …


Developing And Implementing A Novel Mentorship Model (4+ 1) For Maternal, Newborn And Child Health In Rwanda, Anaclet Ngabonzima, Cynthia Kenyon, Celestin Hategeka, Aimee Josephine Utuza, Paulin Ruhato Banguti, Isaac Luginaah, David F Cechetto Oct 2020

Developing And Implementing A Novel Mentorship Model (4+ 1) For Maternal, Newborn And Child Health In Rwanda, Anaclet Ngabonzima, Cynthia Kenyon, Celestin Hategeka, Aimee Josephine Utuza, Paulin Ruhato Banguti, Isaac Luginaah, David F Cechetto

Paediatrics Publications

BACKGROUND: There are a number of factors that may contribute to high mortality and morbidity of women and newborns in low-income countries. These include a shortage of competent health care providers (HCP) and a lack of sufficient continuous professional development (CPD) opportunities. Strengthening the skills and building the capacity of HCP involved in the provision of maternal, newborn and child health (MNCH) is essential to ensure quality care for mothers, newborns and children. To address this challenge in Rwanda, mentorship of HCPs was identified as an approach that could help build capacity, improve the provision of care and accelerate the …


The Story Behind The Ontario Health Insurance Plan And Its Impact On The Public Sector, Marvin L. Simner Sep 2020

The Story Behind The Ontario Health Insurance Plan And Its Impact On The Public Sector, Marvin L. Simner

History Publications

The Ontario Health Insurance Plan is a provincially supported health care program that required fifteen years to develop and emerged though seven distinct and frequently controversial stages. It was said at the time to have generated more heated debate in the House than any other legislation that previously had been approved by the provincial government. The purpose of this report is to provide a comprehensive review of these seven stages, the arguments that accompanied each stage, and the impact of the stages on the local community. In the final section we discuss how certain elements in these stages, if known …


A Clinically Representative Rat Model Of Hip Hemiarthroplasty, Adam Dm Paish Aug 2020

A Clinically Representative Rat Model Of Hip Hemiarthroplasty, Adam Dm Paish

Electronic Thesis and Dissertation Repository

Joint replacement is an increasingly common surgery with over 130,000 procedures performed annually in Canada. Although joint replacement surgery is highly successful, implants do not last a lifetime, and often have to be replaced via costly revision surgeries. Before innovations aimed at extending the life of implants are applied to the clinic, testing must be performed in animal models. Clinically representative small-animal models of joint replacement would be ideal in the initial stages of research and development, due to ease of handling and low costs, but few such models have been established in the literature. Thus, we describe the development …


Metal Additive Manufacturing For Fixed Dental Prostheses, Mai El Najjar Jun 2020

Metal Additive Manufacturing For Fixed Dental Prostheses, Mai El Najjar

Electronic Thesis and Dissertation Repository

The use of additive manufacturing (AM) in dentistry has gained momentum in recent years. However, high initial costs and uncertainty surrounding the quality of AM products are considered barriers to their use. This research compared dental substructures fabricated by AM versus conventional casting and milling.

Cobalt-chromium alloy rectangular bars and three-unit bridge substructures were fabricated by AM, casting or milling. Bars manufactured by AM exhibited superior flexural strength, shear bond strength of porcelain coating, and Vickers hardness. Bridge substructures fabricated by AM showed similar flexural stiffness to cast, similar flexural loads at failure to milled and cast, and overall accuracy …


Does Endoscopic Sinus Surgery Alter The Biomechanics Of The Orbit?, Leigh J. Sowerby, Matthew S. Harris, Rootu Joshi, Marjorie Johnson, Tom Jenkyn, Corey C. Moore Jun 2020

Does Endoscopic Sinus Surgery Alter The Biomechanics Of The Orbit?, Leigh J. Sowerby, Matthew S. Harris, Rootu Joshi, Marjorie Johnson, Tom Jenkyn, Corey C. Moore

Bone and Joint Institute

© 2020 The Author(s). Objective: The purpose of this study is to determine if removal of ethmoid cell septations as commonly performed in endoscopic sinus surgery leads to a change in orbital wall fracture patterns and the force required to create them. Methods: Six fresh-frozen cadaveric heads were acquired and underwent endoscopic uncinectomy, maxillary antrostomy, and anterior and posterior ethmoidectomy on one, randomized, side. The contralateral sinuses were used as intra-specimen control. Hyaluronic acid gel globe injections were performed to simulate normal intra-ocular pressure. Post-op CT scans confirmed no orbital fractures or violation of the lamina papyracea prior to trauma …


Utilization Of Healthcare By Immigrants In Canada: A Cross-Sectional Analysis Of The Canadian Community Health Survey, Nisanthini Ravichandiran Jun 2020

Utilization Of Healthcare By Immigrants In Canada: A Cross-Sectional Analysis Of The Canadian Community Health Survey, Nisanthini Ravichandiran

Electronic Thesis and Dissertation Repository

Immigrants to Canada face unique barriers to health care, which leads to inequities in the utilization of health care. Lower utilization of health care by immigrants to Canada is associated with the deteriorating health of individual immigrants as well as costs to the health care system. The existing literature suggests that time since immigration is an important predictor for utilization of healthcare for Canadian immigrants. This thesis uses Andersen and Newman’s Framework of Health Service Utilization and data from the 2015-2016 Canadian Community Health Survey to examine health care utilization among immigrants in Canada. The objectives were: (1) To examine …


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 Jun 2020

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 …


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 Jun 2020

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 …


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 Jun 2020

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 …


Nurses' And Midwives' Experiences As Mentors In A Clinical Mentorship Program In Rwanda, Marie Chantal Murekatete Apr 2020

Nurses' And Midwives' Experiences As Mentors In A Clinical Mentorship Program In Rwanda, Marie Chantal Murekatete

Electronic Thesis and Dissertation Repository

In Rwanda, the provision of maternal and child health care is often hindered by gaps in health care providers’ (HCP) knowledge and skills, and the management of pregnancy-related complications in health facilities. These factors contribute to maternal and child mortality rates (MMR). To help respond to the gaps, the Training Support and Access Model (TSAM) project implemented a practice-based clinical mentorship program (CMP) in the Northern and Southern provinces of Rwanda that involved mentors supporting mentees’ professional development to strengthen nurses’ and midwives’ capacity to provide knowledgeable maternal and child health care.

This qualitative descriptive study aimed to explore nurses’ …


Machine Learning For Prostate Histopathology Assessment, Wenchao Han Apr 2020

Machine Learning For Prostate Histopathology Assessment, Wenchao Han

Electronic Thesis and Dissertation Repository

Pathology reporting on radical prostatectomy (RP) specimens is essential to post-surgery patient care. However, current pathology interpretation of RP sections is typically qualitative and subject to intra- and inter-observer variability, which challenges quantitative and repeatable reporting of lesion grade, size, location, and spread. Therefore, we developed and validated a software platform that can automatically detect and grade cancerous regions on whole slide images (WSIs) of whole-mount RP sections to support quantitative and visual reporting. Our study used hæmatoxylin- and eosin-stained WSIs from 299 whole-mount RP sections from 71 patients, comprising 1.2 million 480μm×480μm regions-of-interest (ROIs) covering benign and cancerous tissues …


Optimizing Fecal Microbiota Transplantations For Therapeutic Use Beyond Clostridioides Difficile Infection, Laura J. Craven Apr 2020

Optimizing Fecal Microbiota Transplantations For Therapeutic Use Beyond Clostridioides Difficile Infection, Laura J. Craven

Electronic Thesis and Dissertation Repository

Fecal microbiota transplantation (FMT) is an emerging and effective therapy for the treatment of recurrent Clostridioides difficile infection. Members of the gut microbiome have been implicated in other diseases and FMT has been considered as a potential therapy. Two such conditions include non-alcoholic fatty liver disease (NAFLD) and multiple sclerosis (MS), both of which involve increased small intestinal permeability believed to contribute to the development and disease progression. One of the aims of this project was to determine if FMT could be safely used in patients with NAFLD and MS to improve health outcomes. Before starting the clinical studies, optimal …


Organizational Guidance For The Care Of Patients With Head-And-Neck Cancer In Ontario., J Irish, J Kim, J Waldron, A C Wei, E Winquist, J Yoo, A Boasie, M Brouwers, E Meertens, S Mcnair, C Walker-Dilks Apr 2020

Organizational Guidance For The Care Of Patients With Head-And-Neck Cancer In Ontario., J Irish, J Kim, J Waldron, A C Wei, E Winquist, J Yoo, A Boasie, M Brouwers, E Meertens, S Mcnair, C Walker-Dilks

Paediatrics Publications

Background: At the request of the Head and Neck Cancers Advisory Committee of Ontario Health (Cancer Care Ontario), a working group and expert panel of clinicians with expertise in the management of head-and-neck cancer developed the present guideline. The purpose of the guideline is to provide advice about the organization and delivery of health care services for adult patients with head-and-neck cancer.

Methods: This document updates the recommendations published in the Ontario Health (Cancer Care Ontario) 2009 organizational guideline

Results: To ensure that all patients have access to the highest standard of care available in Ontario, the guideline establishes the …


New Horizons In The Genetic Etiology Of Systemic Lupus Erythematosus And Lupus-Like Disease: Monogenic Lupus And Beyond, Erkan Demirkaya, Sezgin Sahin, Micol Romano, Qing Zhou, Ivona Aksentijevich Mar 2020

New Horizons In The Genetic Etiology Of Systemic Lupus Erythematosus And Lupus-Like Disease: Monogenic Lupus And Beyond, Erkan Demirkaya, Sezgin Sahin, Micol Romano, Qing Zhou, Ivona Aksentijevich

Paediatrics Publications

Systemic lupus erythematosus (SLE) is a clinically and genetically heterogeneous autoimmune disease. The etiology of lupus and the contribution of genetic, environmental, infectious and hormonal factors to this phenotype have yet to be elucidated. The most straightforward approach to unravel the molecular pathogenesis of lupus may rely on studies of patients who present with early-onset severe phenotypes. Typically, they have at least one of the following clinical features: childhood onset of severe disease (<5 >years), parental consanguinity, and presence of family history for autoimmune diseases in a first-degree relative. These patients account for a small proportion of patients with lupus …


A Coaching And/Or Education Intervention Targeting Physical Activity And Nutrition Behaviours In Parents With Overweight/Obesity And Their Children, Shazya Karmali Feb 2020

A Coaching And/Or Education Intervention Targeting Physical Activity And Nutrition Behaviours In Parents With Overweight/Obesity And Their Children, Shazya Karmali

Electronic Thesis and Dissertation Repository

The purpose of this dissertation is to provide a detailed overview of, findings from, and experiences participating in a 3-month randomized controlled trial (RCT) targeting obesity-related behaviours in parents with overweight/obesity (body mass index [BMI] ≥ 25 kg/m2) and their children (2.5-10 years old, any weight; N = 50 dyads). A concurrent mixed methods study comprised of an RCT and descriptive qualitative design was utilized. Parent-participants received Co-Active Life Coaching (CALC) and webinar-based health education (intervention) or education only (control). To address the dissertation’s purpose, Chapter II provides a detailed methodological account of the program, including rationale and …


Survey Of Canadian Orthodontists Regarding Orthodontic Miniscrew Usage, Leah A. Van Sant Feb 2020

Survey Of Canadian Orthodontists Regarding Orthodontic Miniscrew Usage, Leah A. Van Sant

Electronic Thesis and Dissertation Repository

Purpose: To obtain information on the clinical utilization of orthodontic miniscrews (OMSs) among orthodontists in Canada

Methods: Web-based software was used to fabricate a questionnaire in which respondents were asked questions regarding their usage of OMSs in their clinical practice. The survey consisted of between 11 and 39 questions, depending on the respondents’ answers. The survey was distributed via email to the 353 active Canadian members of the American Association of Orthodontists (AAO).

Results: A total of 82 Canadian orthodontists responded to the survey, for a response rate of 23.2%. Among them, 65.8% currently used miniscrews in their clinical practice. …


Treatment De-Escalation For Hpv-Associated Oropharyngeal Squamous Cell Carcinoma With Radiotherapy Vs. Trans-Oral Surgery (Orator2): Study Protocol For A Randomized Phase Ii Trial., Anthony C Nichols, Pencilla Lang, Eitan Prisman, Eric Berthelet, Eric Tran, Sarah Hamilton, Jonn Wu, Kevin Fung, John R De Almeida, Andrew Bayley, David P Goldstein, Antoine Eskander, Zain Husain, Houda Bahig, Apostolos Christopoulous, Michael Hier, Khalil Sultanem, Keith Richardson, Alex Mlynarek, Suren Krishnan, Hien Le, John Yoo, S Danielle Macneil, Adrian Mendez, Eric Winquist, Nancy Read, Varagur Venkatesan, Sara Kuruvilla, Andrew Warner, Sylvia Mitchell, Martin Corsten, Murali Rajaraman, Stephanie Johnson-Obaseki, Libni Eapen, Michael Odell, Shamir Chandarana, Robyn Banerjee, Joseph Dort, T Wayne Matthews, Robert Hart, Paul Kerr, Samuel Dowthwaite, Michael Gupta, Han Zhang, Jim Wright, Christina Parker, Bret Wehrli, Keith Kwan, Julie Theurer, David A Palma Feb 2020

Treatment De-Escalation For Hpv-Associated Oropharyngeal Squamous Cell Carcinoma With Radiotherapy Vs. Trans-Oral Surgery (Orator2): Study Protocol For A Randomized Phase Ii Trial., Anthony C Nichols, Pencilla Lang, Eitan Prisman, Eric Berthelet, Eric Tran, Sarah Hamilton, Jonn Wu, Kevin Fung, John R De Almeida, Andrew Bayley, David P Goldstein, Antoine Eskander, Zain Husain, Houda Bahig, Apostolos Christopoulous, Michael Hier, Khalil Sultanem, Keith Richardson, Alex Mlynarek, Suren Krishnan, Hien Le, John Yoo, S Danielle Macneil, Adrian Mendez, Eric Winquist, Nancy Read, Varagur Venkatesan, Sara Kuruvilla, Andrew Warner, Sylvia Mitchell, Martin Corsten, Murali Rajaraman, Stephanie Johnson-Obaseki, Libni Eapen, Michael Odell, Shamir Chandarana, Robyn Banerjee, Joseph Dort, T Wayne Matthews, Robert Hart, Paul Kerr, Samuel Dowthwaite, Michael Gupta, Han Zhang, Jim Wright, Christina Parker, Bret Wehrli, Keith Kwan, Julie Theurer, David A Palma

Paediatrics Publications

BACKGROUND: Patients with human papillomavirus-positive (HPV+) oropharyngeal squamous cell carcinoma (OPC) have substantially better treatment response and overall survival (OS) than patients with HPV-negative disease. Treatment options for HPV+ OPC can involve either a primary radiotherapy (RT) approach (± concomitant chemotherapy) or a primary surgical approach (± adjuvant radiation) with transoral surgery (TOS). These two treatment paradigms have different spectrums of toxicity. The goals of this study are to assess the OS of two de-escalation approaches (primary radiotherapy and primary TOS) compared to historical control, and to compare survival, toxicity and quality of life (QOL) profiles between the two approaches. …


Outcomes In Pediatric Studies Of Medium-Chain Acyl-Coa Dehydrogenase (Mcad) Deficiency And Phenylketonuria (Pku): A Review., Michael Pugliese, Kylie Tingley, Andrea Chow, Nicole Pallone, Maureen Smith, Alvi Rahman, Pranesh Chakraborty, Michael T Geraghty, Julie Irwin, Laure Tessier, Stuart G Nicholls, Martin Offringa, Nancy J Butcher, Ryan Iverson, Tammy J Clifford, Sylvia Stockler, Brian Hutton, Karen Paik, Jessica Tao, Becky Skidmore, Doug Coyle, Kathleen Duddy, Sarah Dyack, Cheryl R Greenberg, Shailly Jain Ghai, Natalya Karp, Lawrence Korngut, Jonathan Kronick, Alex Mackenzie, Jennifer Mackenzie, Bruno Maranda, John J Mitchell, Murray Potter, Chitra Prasad, Andreas Schulze, Rebecca Sparkes, Monica Taljaard, Yannis Trakadis, Jagdeep Walia, Beth K Potter Jan 2020

Outcomes In Pediatric Studies Of Medium-Chain Acyl-Coa Dehydrogenase (Mcad) Deficiency And Phenylketonuria (Pku): A Review., Michael Pugliese, Kylie Tingley, Andrea Chow, Nicole Pallone, Maureen Smith, Alvi Rahman, Pranesh Chakraborty, Michael T Geraghty, Julie Irwin, Laure Tessier, Stuart G Nicholls, Martin Offringa, Nancy J Butcher, Ryan Iverson, Tammy J Clifford, Sylvia Stockler, Brian Hutton, Karen Paik, Jessica Tao, Becky Skidmore, Doug Coyle, Kathleen Duddy, Sarah Dyack, Cheryl R Greenberg, Shailly Jain Ghai, Natalya Karp, Lawrence Korngut, Jonathan Kronick, Alex Mackenzie, Jennifer Mackenzie, Bruno Maranda, John J Mitchell, Murray Potter, Chitra Prasad, Andreas Schulze, Rebecca Sparkes, Monica Taljaard, Yannis Trakadis, Jagdeep Walia, Beth K Potter

Paediatrics Publications

BACKGROUND: Inherited metabolic diseases (IMDs) are a group of individually rare single-gene diseases. For many IMDs, there is a paucity of high-quality evidence that evaluates the effectiveness of clinical interventions. Clinical effectiveness trials of IMD interventions could be supported through the development of core outcome sets (COSs), a recommended minimum set of standardized, high-quality outcomes and associated outcome measurement instruments to be incorporated by all trials in an area of study. We began the process of establishing pediatric COSs for two IMDs, medium-chain acyl-CoA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU), by reviewing published literature to describe outcomes reported by authors, …


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 …