Alberta Children's Hospital

Consented Universal Newborn Screening for Congenital Cytomegalovirus Infection Using Dried Blood Spot and Dried Saliva Spot Specimens: Implementation and Relative Programmatic Accuracy

The purpose of this research was to evaluate the implementation and relative diagnostic accuracy of dried blood spot (DBS) and dried saliva spot (DSS)-based newborn screening for congenital cytomegalovirus infection (cCMV). This prospective paired-sample pilot studied consecutive...

Indigenous harvesters detect climate-sensitive emerging disease in barren-ground caribou (Rangifer tarandus) threatening food security

We report a filarioid nematode outbreak in barren-ground caribou ( Rangifer tarandus ) from the Canadian Arctic that was identified by Inuit harvesters through a community-based surveillance program. Harvesters reported discolouration of tissues and presence of yellowish fluid ac...

Adherence to treat-to-target recommendations in juvenile idiopathic arthritis in clinical practice

Abstract Objective To assess adherence to Treat-to-Target (T2T) recommendations for juvenile idiopathic arthritis (JIA) in clinical practice. Methods A nested cohort study in the multicenter international prospective UCAN JIA cohort was performed. Patient characteristics, clinica...

Eye Findings Following Congenital Cytomegalovirus Newborn Screening

BACKGROUND AND OBJECTIVE: Consensus guidelines have recommended eye examinations for all newborns with congenital cytomegalovirus (cCMV) infection; however, structured ophthalmic examinations are seldom reported. Existing literature suggests ocular pathology is uncommon in cCMV,...

Anomalies in regional cortical morphology and associations with neurocognitive function in children with prenatal cannabis exposure and unexposed comparisons

Prenatal cannabis exposure (PCE) is associated with neurocognitive impairments in childhood, but the underlying neurodevelopmental process remains unclear. In analysis of a subset of data from a prospective cohort of children (age 7–8 years, n = 56) with and without PCE in the US...

Does child exposure to different discipline types vary by religion of caregiver in religiously diverse Trinidad and Tobago?

Background Some United States' (US) studies report that children in Conservative Protestant households are more exposed to physical punishments than children in other Christian and non-religious households. However, few studies examine the relationship between caregiver religion...

Quality and concordance of international paediatric sepsis guidelines: a cross-sectional appraisal from the SENTINEL International study

Objectives To evaluate the methodological quality of hospital-specific paediatric sepsis clinical practice guidelines (CPGs) from sites participating in an international study using the Appraisal of Guidelines for Research and Evaluation II (AGREE II) tool and to assess the consi...

Beyond in silico prediction: multi-omics to identify a pathogenic deep intronic HNRNPK variant in Au-Kline syndrome

Abstract Pathogenic variants in HNRNPK are associated with autosomal dominant Au-Kline syndrome (AKS, Au-Kline-Okamoto syndrome, OMIM #616580). This syndrome is characterized by developmental delay and intellectual disability, hypotonia, and distinctive facial features. Despite t...

Correlation of polygenic risk score and clinical phenotype in patients with genetic generalized epilepsy

Abstract Objective The polygenic risk score (PRS) for individuals with genetic generalized epilepsy (GGE) quantifies the common risk variants in genes identified in genome‐wide association studies. We hypothesized that the phenotype of GGE patients differs based on their GGE PRS....

IBAS: Interaction-bridged association studies discovering novel genes underlying complex traits

Genetic contributions to complex traits are often mediated through coordinated gene–gene interaction networks, yet most existing association frameworks focus on marginal single-gene effects and overlook higher-order dependency structures. Direct modeling of interactions remains c...

Dr. Tsai et al reply

We appreciate the interest of Drs. Wang and Qu¹ in our work,² and their call for more family-friendly metrics to help convey meaningful quality of life improvements in juvenile idiopathic arthritis ( JIA). After considering the different ideas suggested in t...

The Association Between Intranasal Steroids and Length of Stay in Children With Orbital Infections

OBJECTIVE: Little is known about the use of intranasal agents in the management of orbital infections in children. This study aims to describe intranasal corticosteroid use in children hospitalized with orbital infections and to determine whether an association exists between int...

Nutrient/ TOR signaling controls adipose mitochondrial transcription factor A ( TFAM ) to regulate organismal growth in Drosophila

Animals must adapt their growth to fluctuations in nutrient availability to ensure proper development. While nutrient-sensing tissues coordinate organismal growth through interorgan signaling, the metabolic changes within these tissues that mediate whole-body growth control remai...

Early‐Life Dietary Protein Source Reshapes Gut Microbiota but Fails to Curtail Diet‐Induced Metabolic Syndrome in Young Rats

OBJECTIVE: Dairy consumption plays a protective role in obesity that may be mediated through the gut microbiota. This study examined the role of dairy proteins, casein, whey, and complete dairy (skim milk powder), and a plant-based alternative, soy, on gut microbiota composition,...

Frailty and Surgical Invasiveness Are Independently Associated with Complications in Pediatric Spinal Deformity Surgery

Background: The purposes of this study were to determine whether frailty and surgical invasiveness are independently associated with perioperative outcomes and to describe the outcome rates when these 2 risk domains are considered together in pediatric patients undergoing spinal...

Moving Equity into Practice: Evaluation of an Online Asynchronous Continuing Medical Education Program for Rheumatology Care

Objectives Persistent health inequities exist in the diagnosis, treatment, and outcomes of rheumatologic diseases among at-risk populations in Canada. Prior research identified barriers and facilitators experienced by at-risk populations in Canada when accessing rheumatology care...