Medicine and Health Sciences Commons^™

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.

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 …

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

Consensus Guidelines For Management Of Hyperammonaemia In Paediatric Patients Receiving Continuous Kidney Replacement Therapy., Rupesh Raina, Jirair K Bedoyan, Uta Lichter-Konecki, Philippe Jouvet, Stefano Picca, Nicholas Ah Mew, Marcel C Machado, Ronith Chakraborty, Meghana Vemuganti, Manpreet K Grewal, Timothy Bunchman, Sidharth Kumar Sethi, Vinod Krishnappa, Mignon Mcculloch, Khalid Alhasan, Arvind Bagga, Rajit K Basu, Franz Schaefer, Guido Filler, Bradley A Warady

Paediatrics Publications

Hyperammonaemia in children can lead to grave consequences in the form of cerebral oedema, severe neurological impairment and even death. In infants and children, common causes of hyperammonaemia include urea cycle disorders or organic acidaemias. Few studies have assessed the role of extracorporeal therapies in the management of hyperammonaemia in neonates and children. Moreover, consensus guidelines are lacking for the use of non-kidney replacement therapy (NKRT) and kidney replacement therapies (KRTs, including peritoneal dialysis, continuous KRT, haemodialysis and hybrid therapy) to manage hyperammonaemia in neonates and children. Prompt treatment with KRT and/or NKRT, the choice of which depends on the …

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 …

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 …

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

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

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 …