Digital Commons Network^™

Adaptive Randomised Controlled Non-Inferiority Multicentre Trial (The Ketodex Trial) On Intranasal Dexmedetomidine Plus Ketamine For Procedural Sedation In Children: Study Protocol, Naveen Poonai, Kamary Coriolano, Terry Klassen, Anna Heath, Maryna Yaskina, Darcy Beer, Scott Sawyer, Maala Bhatt, April Kam, Quynh Doan, Vikram Sabhaney, Martin Offringa, Petros Pechlivanoglou, Serena Hickes, Samina Ali

Paediatrics Publications

Introduction Up to 40% of orthopaedic injuries in children require a closed reduction, almost always necessitating procedural sedation. Intravenous ketamine is the most commonly used sedative agent. However, intravenous insertion is painful and can be technically difficult in children. We hypothesise that a combination of intranasal dexmedetomidine plus intranasal ketamine (Ketodex) will be non-inferior to intravenous ketamine for effective sedation in children undergoing a closed reduction. Methods and analysis This is a six-centre, four-arm, adaptive, randomised, blinded, controlled, non-inferiority trial. We will include children 4-17 years with a simple upper limb fracture or dislocation that requires sedation for a closed …

Adaptive Randomised Controlled Non-Inferiority Multicentre Trial (The Ketodex Trial) On Intranasal Dexmedetomidine Plus Ketamine For Procedural Sedation In Children: Study Protocol, Naveen Poonai, Kamary Coriolano, Terry Klassen, Anna Heath, Maryna Yaskina, Darcy Beer, Scott Sawyer, Maala Bhatt, April Kam, Quynh Doan, Vikram Sabhaney, Martin Offringa, Petros Pechlivanoglou, Serena Hickes, Samina Ali

Paediatrics Publications

Introduction Up to 40% of orthopaedic injuries in children require a closed reduction, almost always necessitating procedural sedation. Intravenous ketamine is the most commonly used sedative agent. However, intravenous insertion is painful and can be technically difficult in children. We hypothesise that a combination of intranasal dexmedetomidine plus intranasal ketamine (Ketodex) will be non-inferior to intravenous ketamine for effective sedation in children undergoing a closed reduction. Methods and analysis This is a six-centre, four-arm, adaptive, randomised, blinded, controlled, non-inferiority trial. We will include children 4-17 years with a simple upper limb fracture or dislocation that requires sedation for a closed …

Higher-Dose Sitagliptin And The Risk Of Congestive Heart Failure In Older Adults With Ckd, Flory T. Muanda, Matthew A. Weir, Lavanya Bathini, Kristin K. Clemens, Vlado Perkovic, Manish M. Sood, Eric Mcarthur, Jessica M. Sontrop, Richard B. Borobia, Hoi Y. Tong, Cristina Dávila-Fajardo, Mariana Rodrigues Botton, Stephane Bourgeois, Panos Deloukas, Michael D. Caldwell, Jim K. Burmester, Richard L. Berg, Larisa H. Cavallari, Katarzyna Drozda, Min Huang, Li Zi Zhao, Han Jing Cen, Rocio Gonzalez-Conejero, Vanessa Roldan, Yusuke Nakamura, Taisei Mushiroda

Paediatrics Publications

Background and objectives Sitagliptin, a dipeptidylpeptidase-4 inhibitor, is commonlyprescribed to patientswith type 2 diabetes. As this drug is primarily eliminated by the kidney, a reduced dose is recommended for patients with CKD. Some evidence suggests that sitagliptin is associated with a higher risk of congestive heart failure, particularly at higher doses.Wecompare the 1-year risk of death or hospitalizationwith congestive heart failure in patients with CKD newly prescribed sitagliptin at <50 versus ≤50 mg/d. Design, setting, participants, & measurements This population-based cohort study included older adults (>66 years) with type 2 diabetes and an eGFR<45 ml/min per 1.73 m2 (but not receiving dialysis) who were newly prescribed sitagliptin between 2010 and 2017 in Ontario, Canada. We used inverse probability of treatment weighting on the basis of propensity scores to balance baseline characteristics. The primary composite outcome was death or hospitalization with congestive heart failure. Secondary outcomes included hospitalization with pancreatitis or hypoglycemia, all-cause hospitalization, and glycemic control. Weighted hazard ratios were obtained using Cox proportional hazards regression, and 95%confidence intervalswere obtained using bootstrap variance estimators. Results Of 9215 patients, 6518 started sitagliptin at >50 mg/d, and 2697 started sitagliptin at ≤50 mg/d. The 1-year risk of death or hospitalization with congestive heart failure did not …

Blast In Context: The Neuropsychological And Neurocognitive Effects Of Long-Term Occupational Exposure To Repeated Low-Level Explosives On Canadian Armed Forces' Breaching Instructors And Range Staff, Oshin Vartanian, Catherine Tenn, Shawn G. Rhind, Ann Nakashima, Alex P. Di Battista, Lauren E. Sergio, Diana J. Gorbet, Douglas D. Fraser, Angela Colantonio, Kristen King, Quan Lam, Doug Saunders, Rakesh Jetly

Paediatrics Publications

Currently, there is strong interest within the military to better understand the effects of long-term occupational exposure to repeated low-level blast on health and performance. To gain traction on the chronic sequelae of blast, we focused on breaching—a tactical technique for gaining entry into closed/blocked spaces by placing explosives and maintaining a calculated safe distance from the detonation. Using a cross-sectional design, we compared the neuropsychological and neurocognitive profiles of breaching instructors and range staff to sex- and age-matched Canadian Armed Forces (CAF) controls. Univariate tests demonstrated that breaching was associated with greater post-concussive symptoms (Rivermead Post Concussion Symptoms Questionnaire) …

Vascularization Of The Human Intervertebral Disc: A Scoping Review, Dale E. Fournier, Patti K. Kiser, J. Kevin Shoemaker, Michele C. Battié, Cheryle A. Séguin

Paediatrics Publications

Intervertebral discs (IVDs) are often referred to as the largest avascular structures of the human body, yet a collective resource characterizing the vascularization of the IVD does not exist. To address this gap, the objective of this study was to conduct a comprehensive search of the literature to review and summarize current knowledge of the prevalence and localization of blood supply in human IVDs, with a scoping review. A comprehensive search of peer-reviewed publications on the topic of IVD vascularization in humans was conducted across six electronic databases: PubMed, EMBASE, MEDLINE, Scopus, Web of Science, and BIOSIS Previews. Studies of …

Adding Team-Based Financial Incentives To The Carrot Rewards Physical Activity App Increases Daily Step Count On A Population Scale: A 24-Week Matched Case Control Study, Emma Pearson, Harry Prapavessis, Christopher Higgins, Robert Petrella, Lauren White, Marc Mitchell

Paediatrics Publications

Background: Mobile health applications (mHealth apps) targeting physical inactivity have increased in popularity yet are usually limited by low engagement. This study examined the impact of adding team-based incentives (Step Together Challenges, STCs) to an existing mHealth app (Carrot Rewards) that rewarded individual physical activity achievements. Methods: A 24-week quasi-experimental study (retrospective matched pairs design) was conducted in three Canadian provinces (pre-intervention: weeks 1–12; intervention: weeks 13–24). Participants who used Carrot Rewards and STCs (experimental group) were matched with those who used Carrot Rewards only (controls) on age, gender, province and baseline mean daily step count (±500 steps/d). Carrot Rewards …

Diagnostic Utility Of Genome-Wide Dna Methylation Analysis In Mendelian Neurodevelopmental Disorders, Sadegheh Haghshenas, Pratibha Bhai, Erfan Aref-Eshghi, Bekim Sadikovic

Paediatrics Publications

Mendelian neurodevelopmental disorders customarily present with complex and overlapping symptoms, complicating the clinical diagnosis. Individuals with a growing number of the so-called rare disorders exhibit unique, disorder-specific DNA methylation patterns, consequent to the underlying gene defects. Besides providing insights to the pathophysiology and molecular biology of these disorders, we can use these epigenetic patterns as functional biomarkers for the screening and diagnosis of these conditions. This review summarizes our current understanding of DNA methylation episignatures in rare disorders and describes the underlying technology and analytical approaches. We discuss the computational parameters, including statistical and machine learning methods, used for the …

Habitual Physical Activity Levels And Sedentary Time Of Children In Different Childcare Arrangements From A Nationally Representative Sample Of Canadian Preschoolers, Julie Statler, Piotr Wilk, Brian W. Timmons, Rachel Colley, Patricia Tucker

Paediatrics Publications

Background: Children spend substantial time in childcare, and the reasons parents choose a particular childcare type may differ by family. However, little is known about how childcare type influences habitual (full day) activity levels among children. Therefore, exploring patterns between childcare type and habitual physical activity (PA) (i.e., light, moderate-to-vigorous PA (MVPA), and total PA) and sedentary time (ST) in young Canadian children is needed. Methods: A nationally representative sample of preschoolers from Cycles 3 and 4 of the Canadian Health Measures Survey was used in this cross-sectional study. Childcare type (e.g., center-based childcare, home-based childcare, home with parent, kindergarten) …

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

Paediatrics Publications

Editorial

Survival Benefit For Individuals With Constitutional Mismatch Repair Deficiency Syndrome And Brain Tumors Who Undergo Surveillance Protocol. A Report From The International Replication Repair Consortium, Ayse Bahar Ercan, Carol Durno, Vanessa J. Bianchi, Melissa Edwards, Melyssa Aronson, Eric Bouffet, Abeer Al-Battashi, Musa Alharbi, Donald Basel, Elizabeth Cairney

Paediatrics Publications

BACKGROUND

Constitutional mismatch repair deficiency syndrome (CMMRD) is a severe cancer predisposition syndrome resulting in early onset central nervous system (CNS) and other cancers. International guidelines for surveillance exist but no study has systematically evaluated the efficacy of this protocol. METHODS

We surveyed all confirmed CMMRD patients in the International Replication Repair Deficiency Consortium. A surveillance protocol consisting of frequent biochemical, endoscopic and imaging (CNS and total body MRI) studies were employed. Survival analyses and efficacy of each method were assessed. RESULTS

Surveillance data were collected from 105 CMMRD individuals from 41 countries. Of the 193 malignant tumors, CNS malignancies …

Evaluation Of Dna Methylation Episignatures For Diagnosis And Phenotype Correlations In 42 Mendelian Neurodevelopmental Disorders, E. Aref-Eshghi, J. Kerkhof, V. Pedro, Groupe Di France, M. Barat-Houari, N. Ruiz-Pallares, M. Alders, M. Mannens, P. Henneman, R.C. Hennekam, A. Ciolf, S. Pizzi, M. Tartaglia, P.M. Campeau, J. Rousseau, M.A. Levy, L. Brick, M. Kozenko, T.B. Balci, V.M. Siu, A. Stuart, M. Kadour, J. Masters, K. Takano, T. Kleefstra, N. De Leeuw, M. Field, M. Shaw, J. Gecz, G. Merla, P.J. Ainsworth, H. Lin, D.I. Rodenhiser, M.J. Friez, M. Tedder, J.A. Dupont, R.E. Stevenson, S.A. Skinner, C.E. Schwartz, D. Genevieve, B. Sadikovic

Paediatrics Publications

No abstract provided.

Frameshift Mutations At The C-Terminus Of Hist1h1e Result In A Specific Dna Hypomethylation Signature, A. Ciolfi, E. Aref-Eshghi, S. Pizzi, L. Pedace, E. Miele, J. Kerkhof, E. Flex, S. Martinelli, F.C. Radio, C.A.L Ruivenkamp, G.W.E. Santen, E.K. Bijlsma, D.Q.C.M. Barge-Schaapveld, K. Ounap, V. Mok Siu, F. F. Kooy, B. Dallapiccola, B. Sadikovic, M. Tartaglia

Paediatrics Publications

No abstract provided.

The Case For Cautious Interpretation And Replication: Lead-Time Bias As A Potential Explanation For The Link Between Duration Of Untreated Psychosis And Outcome, Srividya N. Iyer, Kelly K. Anderson, Ashok Malla, Jai Shah, Ross Norman

Paediatrics Publications

No abstract provided.

Risk Factors Associated With Infection In Open Fractures Of The Upper And Lower Extremities, Paul Tornetta, Gregory J. Della Rocca, Saam Morshed, Clifford Jones, Diane Heels-Ansdell, Sheila Sprague, Brad Petrisor, Kyle J. Jeray, Gina Del Fabbro, Sofia Bzovsky, Mohit Bhandari, Gordon H. Guyatt, Stephen D. Walter, Emil H. Schemitsch, Jeffrey Anglen, Michael Bosse, Susan Liew, Parag Sancheti, Paula Mckay, Kim Madden, Kerry Tai, Lisa Buckingham, Aravin Duraikannan, Stephanie L. Tanner, Rebecca G. Snider, Douglas Altman, Rajiv Gandhi, Markus Bischoff, Bill Ristevski

Paediatrics Publications

Introduction: Open fractures are associated with a high risk of infection. The prevention of infection is the single most important goal, influencing perioperative care of patients with open fractures. Using data from 2,500 participants with open fracture wounds enrolled in the Fluid Lavage of Open Wounds trial, we conducted a multivariable analysis to determine the factors that are associated with infections 12 months postfracture. Methods: Eighteen predictor variables were identified for infection a priori from baseline data, fracture characteristics, and surgical data from the Fluid Lavage of Open Wounds trial. Twelve predictor variables were identified for deep infection, which included …

The Use Of Induced Pluripotent Stem Cells In Domestic Animals: A Narrative Review, Rachel A. Scarfone, Samantha M. Pena, Keith A. Russell, Dean H. Betts, Thomas G. Koch

Paediatrics Publications

Induced pluripotent stem cells (iPSCs) are undifferentiated stem cells characterized by the ability to differentiate into any cell type in the body. iPSCs are a relatively new and rapidly developing technology in many fields of biology, including developmental anatomy and physiology, pathology, and toxicology. These cells have great potential in research as they are self-renewing and pluripotent with minimal ethical concerns. Protocols for their production have been developed for many domestic animal species, which have since been used to further our knowledge in the progression and treatment of diseases. This research is valuable both for veterinary medicine as well as …

Risk Factors Associated With Infection In Open Fractures Of The Upper And Lower Extremities, Paul Tornetta, Gregory J. Della Rocca, Saam Morshed, Clifford Jones, Diane Heels-Ansdell, Sheila Sprague, Brad Petrisor, Kyle J. Jeray, Gina Del Fabbro, Sofia Bzovsky, Mohit Bhandari, Gordon H. Guyatt, Stephen D. Walter, Emil H. Schemitsch, Jeffrey Anglen, Michael Bosse, Susan Liew, Parag Sancheti, Paula Mckay, Kim Madden, Kerry Tai, Lisa Buckingham, Aravin Duraikannan, Stephanie L. Tanner, Rebecca G. Snider, Douglas Altman, Rajiv Gandhi, Markus Bischoff, Bill Ristevski

Paediatrics Publications

Introduction: Open fractures are associated with a high risk of infection. The prevention of infection is the single most important goal, influencing perioperative care of patients with open fractures. Using data from 2,500 participants with open fracture wounds enrolled in the Fluid Lavage of Open Wounds trial, we conducted a multivariable analysis to determine the factors that are associated with infections 12 months postfracture. Methods: Eighteen predictor variables were identified for infection a priori from baseline data, fracture characteristics, and surgical data from the Fluid Lavage of Open Wounds trial. Twelve predictor variables were identified for deep infection, which included …

Perfusion Bioreactor Culture Of Human Adipose-Derived Stromal Cells On Decellularized Adipose Tissue Scaffolds Enhances In Vivo Adipose Tissue Regeneration, Tim Tian Y. Han, Lauren E. Flynn

Paediatrics Publications

Tissue-engineering approaches hold promise to address the need in plastic and reconstructive surgery for new therapies that promote stable adipose tissue regeneration. Previous studies have demonstrated the potential of combining decellularized adipose tissue (DAT) scaffolds with adipose-derived stromal cells (ASCs) for volume augmentation applications. With the goal of enhancing in vivo angiogenesis and adipogenesis, this study evaluated the effects of culturing human ASCs on DAT scaffolds within a perfusion bioreactor. Using this system, the impact of both dynamic culture and hypoxic preconditioning were explored in vitro and in vivo. Initial studies compared the effects of 14 days of culture within …

Measuring Temporal Differences In Rural Canadian Children’S Moderate-To-Vigorous Physical Activity, Brenton L.G. Button, Andrew F. Clark, Gina Martin, Megan Graat, Jason A. Gilliland

Paediatrics Publications

The purpose of this study was to measure the factors that influence children’s moderate-to-vigorous physical activity (MVPA) during school curriculum time, recess time, and outside school time in a rural area. During the Fall and Winter of 2016, 34 boys and 55 girls aged 8–14 years from rural communities in rural Northwestern Ontario participated in the Spatial Temporal Environment and Activity Monitoring project. The children’s MVPA was measured using an accelerometer, and child-level demographic, behavioral, and environmental data were gathered from surveys, passively logging global positioning units, and municipal datasets. Data on daily temperature and precipitation were gathered from the …

Exploring Attitudes, Subjective Norms And Perceived Behavioural Control In A Genetic-Based And A Population-Based Weight Management Intervention: A One-Year Randomized Controlled Trial, Justine R. Horne, Jason A. Gilliland, Marie Claude Vohl, Janet Madill

Paediatrics Publications

Background: Several studies demonstrate that the provision of personalized lifestyle advice, based on genetics, can help motivate individuals to engage in greater nutrition and physical activity changes compared to the provision of population-based advice. The theoretical mechanism behind this phenomenon is poorly understood. The objective of this study was to determine the impact of providing genetically tailored and population-based lifestyle advice on key constructs of the Theory of Planned Behaviour (TPB). Materials and Methods: A pragmatic, cluster randomized controlled trial (n = 140) took place at the East Elgin Family Health Team, in Aylmer, Ontario, Canada. Participants were primarily Caucasian …

Two-Week Isocaloric Time-Restricted Feeding Decreases Liver Inflammation Without Significant Weight Loss In Obese Mice With Non-Alcoholic Fatty Liver Disease, Rachel B. Wilson, Richard Zhang, Yun Jin Chen, Kia M. Peters, Cynthia G. Sawyez, Brian G. Sutherland, Krisha Patel, John P. Kennelly, Kelly Ann Leonard, René L. Jacobs, Rennian Wang, Nica M. Borradaile

Paediatrics Publications

Prolonged, isocaloric, time-restricted feeding (TRF) protocols can promote weight loss, improve metabolic dysregulation, and mitigate non-alcoholic fatty liver disease (NAFLD). In addition, 3-day, severe caloric restriction can improve liver metabolism and glucose homeostasis prior to significant weight loss. Thus, we hypothesized that short-term, isocaloric TRF would improve NAFLD and characteristics of metabolic syndrome in diet-induced obese male mice. After 26 weeks of ad libitum access to western diet, mice either continued feeding ad libitum or were provided with access to the same quantity of western diet for 8 h daily, over the course of two weeks. Remarkably, this short-term TRF …

Hyoscine Butylbromide Versus Acetaminophen For Nonspecific Colicky Abdominal Pain In Children: A Randomized Controlled Trial., Naveen Poonai, Kriti Kumar, Kamary Coriolano, Graham Thompson, Shaily Brahmbhatt, Emily Dzongowski, Holly Stevens, Priti Gupta, Michael Miller, Sharlene Elsie, Dhandapani Ashok, Gary Joubert, Rod Lim, Andreana Bütter, Samina Ali

Paediatrics Publications

BACKGROUND: Less than two-thirds of children with abdominal pain in the emergency department receive analgesia. We sought to determine whether hyoscine butylbromide was superior to acetaminophen for children with nonspecific colicky abdominal pain.

METHODS: We randomly allocated children aged 8-17 years with nonspecific colicky abdominal pain who presented to the pediatric emergency department of London Health Sciences Centre, London, Ontario to receive hyoscine butylbromide, 10 mg given orally, or acetaminophen, 15 mg/kg given orally (maximum 975 mg). We considered the minimal clinically important difference for the primary outcome (self-reported pain at 80 min) to be 13 mm on a 100 …

Drug Therapy During Pregnancy., Dongmei Sun, Janine R. Hutson, Facundo Garcia-Bournissen Md Phd

Paediatrics Publications

No abstract provided.

Nightmare Recurrence In Patients With Post-Traumatic Stress Disorder Is Likely A Primary Feature Of Central Sympathetic Nervous Activation, Madhulika A. Gupta

Paediatrics Publications

No abstract provided.

Characterization Of Mutational Status, Spheroid Formation, And Drug Response Of A New Genomically-Stable Human Ovarian Clear Cell Carcinoma Cell Line, 105c, Bart Kolendowski, Yudith Ramos Valdes, Hal Hirte, Hiroaki Itamochi, Wonjae Lee, Mark Carey, Trevor G. Shepherd, Gabriel E. Dimattia

Paediatrics Publications

Ovarian clear cell carcinoma (OCCC) is a rare subtype of gynecological cancer for which well-characterized and authenticated model systems are scarce. We provide an extensive characterization of '105C', a cell line generated from an adenocarcinoma of the clear cell histotype using targeted next-generation sequencing, cytogenetic microarrays, along with analyses of AKT/mTOR signaling. We report that that the 105C cell line is a bona fide OCCC cell line, carrying PIK3CA, PTEN, and ARID1A gene mutations, consistent with OCCC, yet maintain a stable genome as reflected by low copy number variation. Unlike KOC-7c, TOV-21G, and RMG-V OCCC lines also mutated for the …

Personal Protective Equipment Availability And Usage Amongst Pediatric Otorhinolaryngologists During The Covid-19 Pandemic: An International Survey, Dong Hyun Kim, Neil K. Chadha, Lily Hp Nguyen, Murad Husein

Paediatrics Publications

Objectives: To survey a group of global pediatric otolaryngology specialists to assess their usage and access to personal protective equipment during the COVID-19 pandemic. Methods: A survey of 13 questions was created collecting information on: basic demographics of practice, types of PPE used for procedures of varying aerosolization risk, access to positive air-purifying respirator (PAPR) and patient testing for SARS-CoV-2. Pediatric otolaryngologists were invited to complete the survey via Whatsapp™. Results: 96 responses were collected from 17 different countries. N95 was the most commonly utilized PPE when dealing with COVID-19 patients (64.2%–81.9% depending on aerosolization risk of the procedure). Significantly …

Physical Activity Throughout Pregnancy Is Key To Preventing Chronic Disease, Taniya S. Nagpal, Michelle F. Mottola

Paediatrics Publications

According to The Developmental Origins of Health and Disease theory, the intrauterine environment of the developing fetus may impact later life physiology, including susceptibility to chronic disease conditions. Maternal exposures during pregnancy can affect the intrauterine environment and result in fetal programming for chronic diseases through changes in the structure or function of specific organs. Negative maternal exposures, such as poor nutrition intake, have been shown to increase the risk for later life chronic diseases. On the contrary, healthful behaviors, such as physical activity, may have a positive and protective effect against chronic disease risk. This narrative review summarizes literature …

An Environmental Scan Of Wellness Initiatives And Programs At Canadian Academic Emergency Medicine Programs: How Far Have We Come?, Rodrick Lim, Brittany Cameron, Sara Gray, Louise Rang, Kristine Van Aarsen

Paediatrics Publications

Objectives We sought to conduct a major objective of the Canadian Association of Emergency Physicians (CAEP) Wellness Committee, an environmental scan of the academic emergency medicine programs across the 17 Canadian medical schools. Methods An 89-question questionnaire was distributed to academic heads or wellness leads. The responses were verified by the lead author to ensure that the questions were answered completely and consistently. Results While formal wellness programs may exist in varying degrees across the 17 universities, most were found to exist only at local, divisional, or departmental levels. A broad variability of established leadership positions exists. Shift practices varied …

Competency-Based Assessment Tool For Pediatric Tracheotomy: International Modified Delphi Consensus, Evan J. Propst, Nikolaus E. Wolter, Stacey L. Ishman, Karthik Balakrishnan, Ashley R. Deonarain, Deepak Mehta, George Zalzal, Seth M. Pransky

Paediatrics Publications

Objectives/Hypothesis: Create a competency-based assessment tool for pediatric tracheotomy. Study Design: Blinded, modified, Delphi consensus process. Methods: Using the REDCap database, a list of 31 potential items was circulated to 65 expert surgeons who perform pediatric tracheotomy. In the first round, items were rated as “keep” or “remove,” and comments were incorporated. In the second round, experts were asked to rate the importance of each item on a seven-point Likert scale. Consensus criteria were determined a priori with a goal of 7 to 25 final items. Results: The first round achieved a response rate of 39/65 (60.0%), and returned questionnaires …

Emergency Physician Mental Health During The Subacute Phase Of The Covid-19 Pandemic, Rodrick Lim, Huma Ali, Rachel Gagnier, Michelle Marlborough, Sandra Northcott

Paediatrics Publications

No abstract provided.

Tp63-Mutation As A Cause Of Prenatal Lethal Multicystic Dysplastic Kidneys, Isabel Friedmann, Carla Campagnolo, Nancy Chan, Ghislain Hardy, Maha Saleh

Paediatrics Publications

BACKGROUND: Ectrodactyly-ectodermal dysplasia-clefting syndrome 3 (EEC) is one of the six overlapping syndromes caused by mutations in the tumor protein p63 gene (TP63). EEC is suspected when patients have cleft hands or feet, polydactyly, and syndactyly, abnormal development of the ectodermally derived structures, and orofacial clefting. Genitourinary (GU) anomalies have been identified in patients with EEC, yet these are often under-recognized and under-reported. The available literature on sonographic prenatal findings is sparse, especially when considering GU anomalies.

METHODS: We present the case of a male stillborn fetus, who was found antenatally to have multicystic dysplastic kidneys and anhydramnios. Following the …