Royal Children's Hospital

Efficacy and safety of fenfluramine in Dravet syndrome: The impact of patient clinical characteristics

Abstract Objective To assess the efficacy and safety of fenfluramine in patients with Dravet syndrome (DS) stratified by age, number of previously attempted antiseizure medications (ASMs), and SCN1A pathogenic variant status. Methods In this post hoc analysis, data from three ran...

The DLX/Notch axis is necessary for spatiotemporal regulation of neural cell fate

Neuronal-glial cell fate switch during forebrain development is highly regulated. DLX transcription factors are necessary for promoting GABAergic interneuron differentiation and migration but the mechanisms for concomitant repression of glial fate in neural progenitors remain elu...

Malaria Transmission Via Needle Stick Injury

We present the case of an 11-year-old boy with severe Plasmodium falciparum malaria, whose attending doctor sustained a needle stick injury (NSI) during phlebotomy. We also report the findings of a systematic literature review of papers describing malaria transmission to healthca...

Scaling up Genomics

Introduction: Genomic testing has substantial diagnostic and clinical value in nephrology, yet integrating testing into routine care requires service-level changes to ensure timely and equitable access. Methods: We conducted an observational cohort study at four tertiary centres,...

“I know how important it is”: A qualitative analysis of participants’ experiences in a vaccine safety study

Specialist immunization clinics can support vaccination counseling for individuals experiencing adverse events following immunization (AEFIs) and research into AEFIs. We sought to describe the experiences of participants from the Canadian Special Immunization Clinic Network COVID...

The Impact of 40 Years of Data Collection: The Victoria Cerebral Palsy Register

Background: The Victorian Cerebral Palsy Register (VCPR) project collects information on all individuals born or living in Victoria since 1970. It is one of the largest cerebral palsy (CP) registers internationally, with over 6800 participants. Methods: This paper will explain ho...

An autoinflammatory CDC42 variant M45L demonstrates the mechanism of pyrin inflammasome activation

CDC42 is an evolutionarily conserved guanosine triphosphatase (GTPase) regulating critical cellular and immune processes. Variants in CDC42 therefore cause a spectrum of developmental phenotypes, including hematological and immunological symptoms. Here, we identify a previously u...

Long-term type 2 diabetes risk prediction using machine learning with childhood, adolescent, and genetic factors

Abstract Late diagnosis of type 2 diabetes increases patient morbidity and healthcare burden, yet current prediction models use adult risk factors to estimate 5–10-year risk. In this manuscript, we evaluate long-term prediction of type 2 diabetes over 38 years using childhood fac...

Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE): genetics, mechanisms and precision therapy

Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is a recently defined malformation of cortical development that is an important cause of childhood-onset drug-resistant epilepsy. Clinically, the epilepsies associated with MOGHE are h...

Inspiration or instigation? Bidirectional links between body-focused content, body image, and disordered eating urges

Using ecological momentary assessment (EMA), we examined the bidirectional relationship between body-focused inspiration content and body image and disordered eating urges, as well as the potential moderating effect of gender on these relationships. Undergraduate men and women (n...