Posthemorrhagic ventricular dilatation in preterm infants: When best to intervene?

Objective: To compare neurodevelopmental outcomes of preterm infants with and without intervention for posthemorrhagic ventricular dilatation (PHVD) managed with an "early approach" (EA), based on ventricular measurements exceeding normal (ventricular index [VI] <+2 SD/anterior horn width <6 mm) with initial temporizing procedures, followed, if needed, by permanent shunt placement, and a "late approach" (LA), based on signs of increased intracranial pressure with mostly immediate permanent intervention.

Methods: Observational cohort study of 127 preterm infants (gestation <30 weeks) with PHVD managed with EA (n = 78) or LA (n = 49). Ventricular size was measured on cranial ultrasound.

Sarcopenia in Children With End-Stage Liver Disease.

Background: Sarcopenia, reflected by decreased psoas muscle surface area (PMSA), has been identified as a novel and independent predictor of wait-list mortality and outcomes in adult liver transplantation (LT). We hypothesized that children with end-stage liver disease (ESLD) would have smaller PMSA than healthy controls.

Methods: Computer tomography images of children (ages 0 to 18 years) listed for LT in 2015 and a control group comprised 2:1 age- and gender-matched healthy pediatric trauma victims were reviewed.

A homozygous mutation in the stem II domain of causes typical Roifman syndrome.

Roifman syndrome (OMIM# 616651) is a complex syndrome encompassing skeletal dysplasia, immunodeficiency, retinal dystrophy and developmental delay, and is caused by compound heterozygous mutations involving the Stem II region and one of the other domains of the gene. This small nuclear RNA gene is essential for minor intron splicing. The Canadian Centre for Primary Immunodeficiency Registry and Repository were used to derive patient information as well as tissues.

Early intervention for children at risk for reading disabilities: The impact of grade at intervention and individual differences on intervention outcomes.

Across multiple schools in three sites, the impact of grade-at-intervention was evaluated for children at risk or meeting criteria for reading disabilities. A multiple-component reading intervention with demonstrated efficacy was offered to small groups of children in 1, 2, or 3 grade. In a quasi-experimental design, 172 children received the Triple-Focus Program (PHAST + RAVE-O), and 47 were control participants.

Combined immunodeficiency and atopy caused by a dominant negative mutation in caspase activation and recruitment domain family member 11 (CARD11).

Background: Combined immunodeficiency (CID) is a T-cell defect frequently presenting with recurrent infections, as well as associated immune dysregulation manifesting as autoimmunity or allergic inflammation.

Objective: We sought to identify the genetic aberration in 4 related patients with CID, early-onset asthma, eczema, and food allergies, as well as autoimmunity.

Methods: We performed whole-exome sequencing, followed by Sanger confirmation, assessment of the genetic variant effect on cell signaling, and evaluation of the resultant immune function.

How Canada can help global adolescent health mature.

Background: There is an emerging focus on adolescent health within the global health community as we come to recognize that the adolescent years are formative in determining health and health-related behaviours across the life-course. Such attention is not only relevant on the global scale but is imperative in Canada as well.

Main Body: This commentary provides a brief review of recent investments targeting global adolescent health and presents five potential avenues for action which emerged out of the recent Canadian Partnership for Women and Children's Health (CanWaCH) Global Adolescent Health conference.

The Fetal Safety of Enoxaparin Use During Pregnancy: A Population-Based Retrospective Cohort Study.

Introduction: Enoxaparin is widely used during pregnancy as pregnancy is a hypercoagulable state; however, its fetal safety has scarcely been investigated.

Objective: Our study aimed to examine fetal safety following enoxaparin exposure during pregnancy.

Methods: A population-based, retrospective cohort study was performed by linking computerized databases, including the drug dispensing registries of Clalit Health Services in Israel and maternal and infant hospital records, between 1998 and 2009.

Development of a Novel Tool to Assess the Impact of Itching in Pediatric Cholestasis.

Objectives: The aim was to develop a clinical outcome assessment (COA) for itching in children with cholestatic pruritus.

Methods: This prospective study aimed to enroll patients aged 4-30 years with Alagille syndrome (ALGS) or progressive familial intrahepatic cholestasis type 1 and caregivers of patients aged 5 months to 14 years. Eligible patients experienced itching during ≥3 of the 7 days before enrollment and had not undergone liver transplant or surgical interruption of the enterohepatic circulation.

Complementary cortical gray and white matter developmental patterns in healthy, preterm neonates.

Preterm birth is associated with brain injury and altered cognitive development. However, the consequences of extrauterine development are not clearly distinguished from perinatal brain injury. Therefore, we characterized cortical growth patterns from 30 to 46 postmenstrual weeks (PMW) in 27 preterm neonates (25-32 PMW at birth) without detectable brain injury on magnetic resonance imaging.

Accuracy of Point-of-Care Ultrasonography for Pediatric Ankle Sprain Injuries.

Objectives: In children with radiograph fracture-negative lateral ankle injuries, the main objective of this pilot study was to explore the accuracy, sensitivity, and specificity of point-of-care ultrasound (POCUS) performed by a pediatric emergency physician in diagnosing anterior talofibular ligament injuries, radiographically occult distal fibular fractures, and effusions compared with reference standard magnetic resonance imaging (MRI).

Methods: This was a prospective cohort pilot study. Children aged 5 to 17 years with an isolated, acute lateral ankle injury and fracture-negative ankle radiographs were eligible for enrolment.

Characteristics and Course of Enthesitis in a Juvenile Idiopathic Arthritis Inception Cohort.

Objective: To describe the prevalence, associated characteristics, and course of enthesitis in a juvenile idiopathic arthritis (JIA) inception cohort.

Methods: Canadian children newly diagnosed with JIA between 2005 and 2010 were categorized using International League of Associations for Rheumatology criteria at the 6-month visit and followed in the Research in Arthritis in Canadian Children Emphasizing Outcomes (ReACCh-Out) cohort for up to 5 years. The presence of entheseal tenderness on examination at 33 sites shown on a homunculus was recorded at 0, 6, 12, 18, 24, 36, 48, and 60 months after enrollment.

The fetal safety of clomiphene citrate: a population-based retrospective cohort study.

Objective: To evaluate whether exposure to clomiphene citrate (CC) for ovulation induction is associated with major malformations overall or with specific fetal anomalies.

Design: We conducted a population-based retrospective cohort study. Exposure was defined as CC dispension from 2 months before conception through the first month of pregnancy.

Quantitative assessment of white matter injury in preterm neonates: Association with outcomes.

Objective: To quantitatively assess white matter injury (WMI) volume and location in very preterm neonates, and to examine the association of lesion volume and location with 18-month neurodevelopmental outcomes.

Methods: Volume and location of WMI was quantified on MRI in 216 neonates (median gestational age 27.9 weeks) who had motor, cognitive, and language assessments at 18 months corrected age (CA).

Health care for children with diabetes mellitus from low-income families in Ontario and California: a population-based cohort study.

Background: Children with diabetes mellitus in low-income families have poor outcomes, but little is known as to how this relates to healthcare system structure. Our objective was to gain insight into how best to structure health systems to serve these children by describing their health care use in 2 health system models: a Canadian model, with an organized diabetes care network that includes generalists, and an American model, with targeted support services for children from low-income families.

Methods: We performed a population-based retrospective cohort study involving children aged 1-17 years with type 1 diabetes mellitus.

Association between corpus callosum development on magnetic resonance imaging and diffusion tensor imaging, and neurodevelopmental outcome in neonates born very preterm.

Aim: To characterize corpus callosum development in neonates born very preterm from early in life to term-equivalent age and its relationship with neurodevelopmental outcome at 18 months corrected age.

Method: In a prospective cohort of 193 neonates born preterm, 24 to 32 weeks' gestation, we used magnetic resonance imaging and diffusion tensor imaging acquired early in life (n=193) and at term-equivalent age (n=159) to measure corpus callosum development: mid-sagittal area (including corpus callosum subdivisions) and length, and fractional anisotropy from the genu and splenium. We examined the association of (1) intraventricular haemorrhage (IVH) and white matter injury (WMI) severity, and (2) neurodevelopmental outcome at 18 months corrected age with corpus callosum development.

Antenatal exposure to antidepressants is associated with altered brain development in very preterm-born neonates.

Background: Antenatal exposure to selective serotonin reuptake inhibitors (SSRIs) is associated with an enhanced risk of preterm birth. Very preterm-born neonates (<32weeks' gestation) antenatally-exposed to SSRIs may show altered brain development.

Objective: To examine whether antenatal-SSRI exposure was associated with adverse neonatal brain microstructural and metabolic development using diffusion tensor and magnetic resonance spectroscopic imaging.

BrainNetCNN: Convolutional neural networks for brain networks; towards predicting neurodevelopment.

We propose BrainNetCNN, a convolutional neural network (CNN) framework to predict clinical neurodevelopmental outcomes from brain networks. In contrast to the spatially local convolutions done in traditional image-based CNNs, our BrainNetCNN is composed of novel edge-to-edge, edge-to-node and node-to-graph convolutional filters that leverage the topological locality of structural brain networks. We apply the BrainNetCNN framework to predict cognitive and motor developmental outcome scores from structural brain networks of infants born preterm.

Lafora disease.

Lafora disease (LD) is an autosomal recessive progressive myoclonus epilepsy due to mutations in the EPM2A (laforin) and EPM2B (malin) genes, with no substantial genotype-phenotype differences between the two. Founder effects and recurrent mutations are common, and mostly isolated to specific ethnic groups and/or geographical locations. Pathologically, LD is characterized by distinctive polyglucosans, which are formations of abnormal glycogen.

Interplay of brain structure and function in neonatal congenital heart disease.

Objective: To evaluate whether structural and microstructural brain abnormalities in neonates with congenital heart disease (CHD) correlate with neuronal network dysfunction measured by analysis of EEG connectivity.

Methods: We studied a prospective cohort of 20 neonates with CHD who underwent continuous EEG monitoring before surgery to assess functional brain maturation and network connectivity, structural magnetic resonance imaging (MRI) to determine the presence of brain injury and structural brain development, and diffusion tensor MRI to assess brain microstructural development.

Results: Neonates with MRI brain injury and delayed structural and microstructural brain development demonstrated significantly stronger high-frequency (beta and gamma frequency band) connectivity.

Paediatric extracranial germ-cell tumours.

Management of paediatric extracranial germ-cell tumours carries a unique set of challenges. Germ-cell tumours are a heterogeneous group of neoplasms that present across a wide age range and vary in site, histology, and clinical behaviour. Patients with germ-cell tumours are managed by a diverse array of specialists.

Sources of Variation in Sweat Chloride Measurements in Cystic Fibrosis.

Rationale: Expanding the use of cystic fibrosis transmembrane conductance regulator (CFTR) potentiators and correctors for the treatment of cystic fibrosis (CF) requires precise and accurate biomarkers. Sweat chloride concentration provides an in vivo assessment of CFTR function, but it is unknown the degree to which CFTR mutations account for sweat chloride variation.

Objectives: To estimate potential sources of variation for sweat chloride measurements, including demographic factors, testing variability, recording biases, and CFTR genotype itself.