Umbilical cord blood culture for early onset sepsis in preterm infants.

Background: Umbilical cord blood culture (UCBC) may have a diagnostic utility for early onset sepsis (EOS) detection in preterm infants. It may prevent sampling the newborn and collect a higher volume of blood for pathogenic identification.

Methods: Retrospective analysis at a tertiary care center in Canada of preterm infants ≤ 34 0/7 weeks' gestation with UCBC taken at birth.

Resource use and disease severity of children hospitalized for COVID-19 versus multisystem inflammatory syndrome in children (MIS-C) in Canada.

Background: Direct comparisons of paediatric hospitalizations for acute coronavirus disease 2019 (COVID-19) and multisystem inflammatory syndrome in children (MIS-C) can inform health system planning. We describe the absolute and relative hospital burden of acute paediatric COVID-19 and MIS-C in Canada.

Methods: This national prospective study was conducted via the Canadian Paediatric Surveillance Program from March 2020-May 2021.

Wilms' tumor gene 1: lessons from the interface between kidney development and cancer.

In 1990, mutations of the Wilms' tumor-1 gene (), encoding a transcription factor in the embryonic kidney, were found in 10-15% of Wilms' tumors; germline mutations were associated with hereditary syndromes involving glomerular and reproductive tract dysplasia. For more than three decades, these discoveries prompted investigators to explore the embryonic role of WT1 and the mechanisms by which loss of leads to malignant transformation. Here, we discuss how alternative splicing of generates isoforms that act in a context-specific manner to activate or repress target gene transcription.

Hypomyelination, hypodontia and craniofacial abnormalities in a Polr3b mouse model of leukodystrophy.

RNA polymerase III (Pol III)-related hypomyelinating leukodystrophy (POLR3-HLD), also known as 4H leukodystrophy, is a severe neurodegenerative disease characterized by the cardinal features of hypomyelination, hypodontia and hypogonadotropic hypogonadism. POLR3-HLD is caused by biallelic pathogenic variants in genes encoding Pol III subunits. While approximately half of all patients carry mutations in POLR3B encoding the RNA polymerase III subunit B, there is no in vivo model of leukodystrophy based on mutation of this Pol III subunit.

Classification of Children and Adolescents With Avoidant/Restrictive Food Intake Disorder.

Background And Objectives: Evidence suggests that children and adolescents with avoidant/restrictive food intake disorder (ARFID) have heterogeneous clinical presentations. To use latent class analysis (LCA) and determine the frequency of various classes in pediatric patients with ARFID drawn from a 2-year surveillance study.

Methods: Cases were ascertained using the Canadian Pediatric Surveillance Program methodology from January 1, 2016, to December 31, 2017.

Distinguishing severe phenotypes associated with pathogenic variants in POLR3A.

A recent report by Majethia and Girisha described a patient with biallelic pathogenic variants in and Wiedemann-Rautenstrauch syndrome. In this correspondence, we compare the features of this patient to that of a cohort of patients with severe POLR3-related leukodystrophy and a similar genotype and clinical course. We comment on the phenotyping and classification of POLR3-related disorders.

Incidence and Age- and Sex-Specific Differences in the Clinical Presentation of Children and Adolescents With Avoidant Restrictive Food Intake Disorder.

Importance: To our knowledge, this is the first pediatric surveillance study of children and adolescents with avoidant restrictive food intake disorder (ARFID).

Objectives: To examine the incidence and age- and sex-specific differences in the clinical presentation of ARFID in children and adolescents in Canada.

Design, Setting, And Participants: In this cross-sectional study, patients with ARFID were identified through the Canadian Paediatric Surveillance Program by surveying 2700 Canadian pediatricians monthly from January 1, 2016, to December 31, 2017.

Clinical and psychosocial stress factors are associated with decline in physical activity over time in children with juvenile idiopathic arthritis.

Background: Physical activity (PA) patterns in children with juvenile idiopathic arthritis (JIA) over time are not well described. The aim of this study was to describe associations of physical activity (PA) with disease activity, function, pain, and psychosocial stress in the 2 years following diagnosis in an inception cohort of children with juvenile idiopathic arthritis (JIA).

Methods: In 82 children with newly diagnosed JIA, PA levels, prospectively determined at enrollment, 12 and 24 months using the Physical Activity Questionnaire for Children (PAQ-C) and Adolescents (PAQ-A) raw scores, were evaluated in relation to disease activity as reflected by arthritis activity (Juvenile Arthritis Disease Activity Score (JADAS-71)), function, pain, and psychosocial stresses using a linear mixed model approach.

Total glans amputation after neonatal circumcision.

Complete penile glans amputation is exceedingly rare in children with little known about the outcomes of management. We present a case of a 12-day-old male who underwent ritual circumcision complicated by total amputation of the glans, which was treated with reimplantation of the glans. Our technique was successfully carried out following reconstruction of anatomical planes with loop magnification and fine 7-0 sutures.

POLR3-Related Leukodystrophy: Exploring Potential Therapeutic Approaches.

Leukodystrophies are a class of rare inherited central nervous system (CNS) disorders that affect the white matter of the brain, typically leading to progressive neurodegeneration and early death. Hypomyelinating leukodystrophies are characterized by the abnormal formation of the myelin sheath during development. POLR3-related or 4H (hypomyelination, hypodontia, and hypogonadotropic hypogonadism) leukodystrophy is one of the most common types of hypomyelinating leukodystrophy for which no curative treatment or disease-modifying therapy is available.

Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy.

Objective: To expand the phenotypic spectrum of severity of POLR3-related leukodystrophy and identify genotype-phenotype correlations through study of patients with extremely severe phenotypes.

Methods: We performed an international cross-sectional study on patients with genetically proven POLR3-related leukodystrophy and atypical phenotypes to identify 6 children, 3 males and 3 females, with an extremely severe phenotype compared with that typically reported. Clinical, radiologic, and molecular features were evaluated for all patients, and functional and neuropathologic studies were performed on 1 patient.

Randomized Clinical Trial of First-Line Genome Sequencing in Pediatric White Matter Disorders.

Objective: Genome sequencing (GS) is promising for unsolved leukodystrophies, but its efficacy has not been prospectively studied.

Methods: A prospective time-delayed crossover design trial of GS to assess the efficacy of GS as a first-line diagnostic tool for genetic white matter disorders took place between December 1, 2015 and September 27, 2017. Patients were randomized to receive GS immediately with concurrent standard of care (SoC) testing, or to receive SoC testing for 4 months followed by GS.

Outcomes and care practices for preterm infants born at less than 33 weeks' gestation: a quality-improvement study.

Background: Preterm birth is the leading cause of morbidity and mortality in children younger than 5 years. We report the changes in neonatal outcomes and care practices among very preterm infants in Canada over 14 years within a national, collaborative, continuous quality-improvement program.

Methods: We retrospectively studied infants born at 23-32 weeks' gestation who were admitted to tertiary neonatal intensive care units that participated in the Evidence-based Practice for Improving Quality program in the Canadian Neonatal Network from 2004 to 2017.

Attitudes of healthcare providers towards cardiac donation after circulatory determination of death: a Canadian nation-wide survey.

Purpose: The number of patients on cardiac transplant waitlists exceeds the number of available donor organs. Cardiac donation is currently limited to those declared dead by neurologic criteria in all but three countries. Cardiac donation after circulatory determination of death (cardiac DCDD) can be conducted using direct procurement and perfusion (DPP) or normothermic regional perfusion (NRP).

Acceptability of cardiac donation after circulatory determination of death: a survey of the Canadian public.

Purpose: Cardiac transplantation is a definitive therapy for end-stage heart failure, but demand exceeds supply. Cardiac donation after circulatory determination of death (cardiac DCDD) can be performed using direct procurement and perfusion (DPP), where cardiac activity is restored after heart recovery, or (NRP), where brain blood supply is surgically interrupted, circulation to the thoraco-abdominal organs is restored within the donor's body, followed by heart recovery. While cardiac DCDD would increase the number of heart donors, uptake of programs has been slowed in part because of ethical concerns within the medical community.

Children with vesicoureteric reflux have joint hypermobility and occasional tenascin XB sequence variants.

Introduction: To consider alternative mechanisms that give rise to a refluxing ureterovesical junction (UVJ), we hypothesized that children with a common heritable urinary tract defect, vesicoureteric reflux (VUR), may have a defect in the extracellular matrix composition of the UVJ and other tissues that would be revealed by assessment of the peripheral joints. Hypermobile joints can arise from defects in the extracellular matrix within the joint capsule that affect proteins, including tenascin XB (TNXB).

Methods: We performed an observational study of children with familial and non-familial VUR to determine the prevalence of joint hypermobility, renal scarring, and DNA sequence variants in TNXB.

Theophylline and aminophylline for prevention of acute kidney injury in neonates and children: a systematic review.

Objective: To compare the efficacy and safety of theophylline or aminophylline for prevention of acute kidney injury (AKI) in neonates and children.

Design: Systematic review and meta-analysis with application of Grading of Recommendations, Assessment, Development and Evaluation system.

Data Sources: PubMed/MEDLINE, Embase, Google Scholar and Cochrane renal group were searched from 1970 to May 2018.

Developing a Clinical Pathway for Somatic Symptom and Related Disorders in Pediatric Hospital Settings.

Somatic symptom and related disorders (SSRDs) are commonly encountered in pediatric hospital settings. There is, however, a lack of standardization of care across institutions for youth with these disorders. These patients are diagnostically and psychosocially complex, posing significant challenges for medical and behavioral health care providers.