Royal Children's Hospital

Implementing a patient decision aid about selective dorsal rhizotomy in clinical practice: pre-post pilot study

PURPOSE: To evaluate whether implementing a patient decision aid about Selective Dorsal Rhizotomy (SDR) for carers of children with bilateral spastic cerebral palsy (CP) improves carer decision-making outcomes and is acceptable to healthcare providers, and to explore carers' expe...

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...

Diabetes and Driving: How Predictive Technologies Will Alter Ethical and Legal Responsibilities

In 2023, a 67-year-old man with long-standing type 1 diabetes experienced a severe hypoglycemic episode and drove into an outdoor dining area in Victoria, Australia, killing 5 people and injuring several others. Although the charges against the driver were dismissed, future cases...

Human-inherited RORγT deficiency encompasses genetic heterogeneity, T cell deficiency, and clinical homogeneity

Abstract We previously reported inherited RORγT deficiency in seven patients from three ancestries (Chilean, Palestinian, Saudi Arabian) with mycobacterial disease and chronic mucocutaneous candidiasis (CMC). We report here five additional patients from different ancestries (Afgh...

A Modified Delphi Study on the Ethics and Governance of Live Injecting at Aesthetic Conferences. Is There a Better and Safer Alternative?

BACKGROUND: Live clinical demonstrations at aesthetic medicine conferences is common, yet concerns regarding patient safety, commercial influence, and ethical governance. This study established a consensus-based governance framework for live injecting and compared expert and atte...

Disruptions in speech, language and social communication in lysosomal storage diseases

Communication enables social connection, autonomy and identity, making it a fundamental domain of human functioning. In lysosomal storage diseases (LSDs), progressive neurological dysfunction can severely disrupt speech, language and social communication, resulting in profound is...

A necroptotic-to-apoptotic signaling axis underlies inflammatory bowel disease

ABSTRACT Inflammatory bowel disease (IBD) is a chronic condition caused by altered cytokine signaling, maladaptive immunity, dysbiosis, and intestinal barrier dysfunction. Patients with IBD receive therapy to correct these imbalances and achieve remission. However, most patients...

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...

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...

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...

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...