Lived Employment Experiences of Young Adults With Childhood- and Adult-Onset Systemic Lupus Erythematosus: A Multicenter Canadian Qualitative Study.

Objective: This study examined the lived employment experiences of young adults with childhood- and adult-onset systemic lupus erythematosus (SLE).

Methods: Participants were recruited from three Canadian lupus clinics and asked to complete semistructured, qualitative video/phone interviews. Interviews were transcribed verbatim and analyzed using thematic analysis.

Hospitalizations for Eating Disorders and Other Mental, Behavioral, and Neurodevelopmental Disorders Before and During COVID-19 in Canada.

Purpose: We assessed hospital admission rates for anorexia nervosa (AN)/atypical AN (AAN) relative to other mental, behavioral, and neurodevelopmental disorders across age groups before and 1-year postpandemic onset.

Methods: Using the Canadian Discharge Abstracts Database, we analyzed admissions for AN/AAN and mental, behavioral, and neurodevelopmental disorders in ages 10-84-year-olds, grouped into 10-24, 25-44, and 45+ year olds. Data spanned fiscal years (FY) 2006-2021.

Novel deletion and nonsense pathogenic variant in Bardet-Biedl syndrome.

Background: Bardet-Biedl syndrome (BBS) is a rare syndromic ciliopathy characterized with retinal degeneration and a broad range of systemic features. Twenty-six BBS-associated genes have been identified to date and clinical genetic testing resolves around 80% of the cases. Two BBS cases unsolved by clinical genetic testing were recruited to identify causative variants using next-generation sequencing.

"We are very family like": How do relationships with colleagues affect career satisfaction for surgeons?

Purpose: The objective of this research was to explore the role of surgeon relationships with their colleagues on career satisfaction.

Methods: This qualitative study employed a thematic analysis based on the core elements of The Grounded Theory Method. Forty-two pediatric neurosurgeons, cardio-thoracic surgeons and ophthalmologists were recruited from 9 countries around the globe and interviewed in-depth about the role of their collegial relationships on their career satisfaction.

Brain and lung arteriovenous malformation rescreening practices for children and adults with hereditary hemorrhagic telangiectasia.

Background: Patients with hereditary hemorrhagic telangiectasia (HHT) are at risk for organ vascular malformations including arteriovenous malformations (AVMs) in the brain and lungs. North American HHT Centers of Excellence (CoEs) routinely screen for brain and lung AVMs, with the primary goal of detecting AVMs which can be treated before complications arise. Current international HHT guidelines provide recommendations for initial screening for brain and lung AVMs among children and adults with the disease, but rescreening recommendations are not comprehensively addressed and have not been reported.

Severity-adjusted evaluation of initial dialysis on short-term health outcomes in urea cycle disorders.

Objective: In individuals with urea cycle disorders (UCDs) and neonatal disease onset, extracorporeal detoxification by continuous kidney replacement therapy is considered the therapeutic method of choice in addition to metabolic emergency treatment to resolve hyperammonemic decompensation. However, the indications for the initiation of dialysis are heterogeneously implemented transnationally, thereby hampering our understanding of (optimal) short-term health outcomes.

Methods: We performed a retrospective comparative analysis evaluating the therapeutic effects of initial dialysis on survival as well as neurocognitive outcome parameters in individuals with UCDs in comparison to a severity-adjusted non-dialyzed control cohort.

Neonatal Adverse Outcomes among Hospital Livebirths in Canada: A National Retrospective Study.

Introduction: In Canada, newborn morbidity far surpasses mortality. The neonatal adverse outcome indicator (NAOI) summarizes neonatal morbidity, but Canadian trend data are lacking.

Methods: This Canada-wide retrospective cross-sectional study included hospital livebirths between 24 and 42 weeks' gestation, from 2013 to 2022.

Socioeconomic status moderates associations between hippocampal development and cognition in preterms.

Objective: The hippocampus plays a critical role in cognitive networks. The anterior hippocampus is vulnerable to early-life stress and socioeconomic status (SES) with alterations persisting beyond childhood. How SES modifies the relationship between early hippocampal development and cognition remains poorly understood.

A fibronectin gradient remodels mixed-phase mesoderm.

Physical processes ultimately shape tissue during development. Two emerging proposals are that cells migrate toward stiffer tissue (durotaxis) and that the extent of cell rearrangements reflects tissue phase, but it is unclear whether and how these concepts are related. Here, we identify fibronectin-dependent tissue stiffness as a control variable that underlies and unifies these phenomena in vivo.

Cellular origins and translational approaches to congenital diaphragmatic hernia.

Congenital Diaphragmatic Hernia (CDH) is a complex developmental abnormality characterized by abnormal lung development, a diaphragmatic defect and cardiac dysfunction. Despite significant advances in management of CDH, mortality and morbidity continue to be driven by pulmonary hypoplasia, pulmonary hypertension, and cardiac dysfunction. The etiology of CDH remains unknown, but CDH is presumed to be caused by a combination of genetic susceptibility and external/environmental factors.

Aberrant early hematopoietic progenitor formation marks the onset of hematopoietic defects in Shwachman-Diamond syndrome.

Shwachman-Diamond syndrome (SDS) is an inherited bone marrow failure disorder that often presents at infancy. Progress has been made in revealing causal mutated genes (SBDS and others), ribosome defects, and hematopoietic aberrations in SDS. However, the mechanism underlying the hematopoietic failure remained unknown, and treatment options are limited.

Effects of pain, sedation and analgesia on neonatal brain injury and brain development.

Critically ill newborns experience numerous painful procedures as part of lifesaving care in the Neonatal Intensive Care Unit. However, painful exposures in the neonatal period have been associated with alterations in brain maturation and poorer neurodevelopmental outcomes in childhood. The most frequently used medications for pain and sedation in the NICU are opioids, benzodiazepines and sucrose; these have also been associated with abnormalities in brain maturation and neurodevelopment making it challenging to know what the best approach is to treat neonatal pain.

Association of BNT162b2 SARS-CoV-2 vaccination during pregnancy with postnatal outcomes in premature infants.

Aim: The effect of COVID-19 vaccine given during pregnancy on premature infants is unknown. This study aims to determine the association between maternal COVID-19 vaccine with postnatal outcome in premature infants.

Methods: This is a single-centre retrospective case-control study of infants born before 35 weeks gestation to mothers who received SARS-CoV-2 vaccine during pregnancy compared with infant born to non-vaccinated mothers.

Relationship of Fatigue, Pain Interference, and Physical Disability in Children Newly Diagnosed With Juvenile Idiopathic Arthritis.

Objective: Our objectives were to quantify the relationships among fatigue, pain interference, and physical disability in children with juvenile idiopathic arthritis (JIA) and to test whether fatigue mediates the relationship between pain interference and physical disability in JIA.

Methods: Patients enrolled within three months of JIA diagnosis in the Canadian Alliance of Pediatric Rheumatology Investigators (CAPRI) Registry between February 2017 and May 2023 were included. Their parents completed the Patient-Reported Outcomes Measurement Information System fatigue and pain interference short proxy questionnaires and the Childhood Health Assessment Questionnaire disability index at registry enrollment.

Change in Volumes and Location of Preterm White Matter Injury over a Period of 15 Years.

Objective: To evaluate whether white matter injury (WMI) volumes and spatial distribution, which are important predictors of neurodevelopmental outcomes in preterm infants, have changed over a period of 15 years.

Study Design: Five hundred and twenty-eight infants born <32 weeks' gestational age from 2 sequential prospective cohorts (cohort 1: 2006 through 2012; cohort 2: 2014 through 2019) underwent early-life (median 32.7 weeks postmenstrual age) and/or term-equivalent-age MRI (median 40.

Diabetes mellitus in pregnancy across Canada.

Background: Contemporary estimates of diabetes mellitus (DM) rates in pregnancy are lacking in Canada. Accordingly, this study examined trends in the rates of type 1 (T1DM), type 2 (T2DM) and gestational (GDM) DM in Canada over a 15-year period, and selected adverse pregnancy outcomes.

Methods: This study used repeated cross-sectional data from the Canadian Institute of Health Information (CIHI) hospitalization discharge abstract database (DAD).