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Research

An estimated 3.5%-5.9% of the global population live with rare diseases, and approximately 80% of these diseases have a genetic cause. Rare genetic diseases are difficult to diagnose, with some affected individuals experiencing diagnostic delays of 5-30 years. Next-generation sequencing has improved clinical diagnostic rates to 33%-48%. In a majority of cases, novel variants potentially causing the disease are discovered. 

Research

Regular physical activity is important for children's physical and mental health, yet many children do not achieve recommended amounts of physical activity. Dog ownership has been associated with increased physical activity in children, however, there have been no longitudinal studies examining this relationship.

Research

Airway management is required during general anaesthesia and is essential for life-threatening conditions such as cardiopulmonary resuscitation. Evidence from recent trials indicates a high incidence of critical events during airway management, especially in neonates or infants. It is important to define the optimal techniques and strategies for airway management in these groups.

Research

To describe the prevalence of eating disorder symptoms among adolescents seeking gender-affirming care.

Research

Affecting one in 20 children, Developmental Coordination Disorder (DCD) is a common neurodevelopmental disorder impacting a child's ability to learn motor skills. Despite its high prevalence, DCD is under-recognized and under-diagnosed, causing unnecessary frustration and stress for families who are seeking help for their child. This study aimed to understand how parents procure diagnostic services and their perspectives on needed supports and services to improve early identification and diagnosis of DCD. 

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Neisseria meningitidis is commensal of the human pharynx and occasionally invades the host, causing the life-threatening illness invasive meningococcal disease. The meningococcus is a highly diverse and adaptable organism thanks to natural competence, a propensity for recombination, and a highly repetitive genome.

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Rett syndrome is a genetically caused neurodevelopmental disorder associated with severe impairments and complex comorbidities. This study examined predictors of anxiety and depression in Rett syndrome, including genotype.

Research

The mitogen-activated protein kinase (MAPK) pathway signaling pathway is one of the most commonly mutated pathways in human cancers. In particular, BRAF alterations result in constitutive activation of the rapidly accelerating fibrosarcoma-extracellular signal-regulated kinase-MAPK significant pathway, leading to cellular proliferation, survival, and dedifferentiation.

Research

Adolescents are heavily exposed to unhealthy outdoor food advertisements near schools, however, the marketing power of these advertisements among adolescents has not yet been explored. This study aimed to investigate the teen-directed marketing features present and quantify the overall marketing power of outdoor food advertisements located near schools to explore any differences by content (ie, alcohol, discretionary, core and miscellaneous foods) school type (ie, primary, secondary, K-12) and area-level socio-economic status (SES; ie, low vs high).

Research

High-risk childhood leukemia has a poor prognosis because of treatment failure and toxic side effects of therapy. Drug encapsulation into liposomal nanocarriers has shown clinical success at improving biodistribution and tolerability of chemotherapy. However, enhancements in drug efficacy have been limited because of a lack of selectivity of the liposomal formulations for the cancer cells.