Sydney Children’s Hospitals Network

AAV8-PDE6B with 3’UTR provides rescue of photoreceptor structure and function in the rd10 mouse model of retinitis pigmentosa

Abstract Retinitis pigmentosa (RP), a leading cause of inherited blindness, results in a subset of cases from phosphodiesterase 6 (PDE6) deficiency. We evaluated a novel gene therapy construct, AAV8-RK- PDE6B -3′UTR, in the rd10 mouse model which has a homozygous missense variant...

A systematic review of measures for the core outcomes of chest health in children and young people with cerebral palsy: a protocol

Background A core outcome set (COS) for chest health in children and young people with cerebral palsy (CP) has been developed for use in research and routine clinical care. Three core outcomes were agreed: the views of the child, young person and/or parent/carer, chest infection(...

Predicting high‐risk novel benzodiazepines: A surveillance study of novel benzodiazepine detections and a case series of bromazolam exposures in New South Wales, Australia

Abstract Background and aims Novel benzodiazepines are increasingly detected in poisonings. Their relative toxicities remain poorly defined, complicating public health responses. Bromazolam has emerged in recent reports of severe poisoning. We sought a method to identify higher‐r...

Envolvimento público no Registro Brasileiro de Paralisia Cerebral: um estudo exploratório, sequencial, de métodos mistos

Resumo Objetivo Descrever a implementação da estratégia de envolvimento do público baseada nas normas do Reino Unido para o envolvimento do público em pesquisa no Registro Brasileiro de Paralisia Cerebral (RB‐PC). Métodos Realizamos um estudo participativo, exploratório, sequenci...

Expanding the genotypic and phenotypic spectrum of PGAP1 deficiency: clinical and functional insights from 15 patients

Glycosylphosphatidylinositol-anchored proteins (GPI-APs) are essential for neuronal development, synaptic organization and signaling. Defects in GPI-anchor biosynthesis or remodeling cause rare neurodevelopmental disorders, including post-GPI attachment to proteins 1 (PGAP1) defi...

Clinicians' Perspectives and Experiences of Barriers, Enablers and Implementation of a Child and Adolescent Mental Health Crisis Service: A Qualitative Evaluation of the Safeguards Team Program

BACKGROUND: Presentations of children and young people (CYP) to Emergency Departments (ED) for acute mental health (MH) issues have increased globally and in Australia. The Safeguards Teams Program (STP) was implemented to provide acute, rapid response, recovery-focused, trauma-i...