Long-term outcomes in children with riboflavin transporter deficiency and surveillance recommendations.

The aim of this longitudinal case series was to describe long-term functional outcome in a group of individuals with riboflavin transporter deficiency (RTD) treated with high-dose oral riboflavin. Data were collected between 2012 to 2022. Eleven individuals with RTD were assessed at 12-month intervals for monitoring of disease progression.

Early moderate prenatal alcohol exposure and maternal diet impact offspring DNA methylation across species.

Alcohol consumption in pregnancy can affect genome regulation in the developing offspring but results have been contradictory. We employed a physiologically relevant murine model of short-term moderate prenatal alcohol exposure (PAE) resembling common patterns of alcohol consumption in pregnancy in humans. Early moderate PAE was sufficient to affect site-specific DNA methylation in newborn pups without altering behavioural outcomes in adult littermates.

Performance of upper limb entry item to predict forced vital capacity in dysferlin-deficient limb girdle muscular dystrophy.

Dysferlin-deficient limb girdle muscular dystrophy (LGMD R2), also referred to as dysferlinopathy, can be associated with respiratory muscle weakness as the disease progresses. Clinical practice guidelines recommend biennial lung function assessments in patients with dysferlinopathy to screen for respiratory impairment. However, lack of universal access to spirometry equipment and trained specialists makes regular monitoring challenging.

Australian Group on Antimicrobial Resistance surveillance outcome programs - bloodstream infections and antimicrobial resistance patterns from patients less than 18 years of age, January 2020 - December 2021.

From 1 January 2020 to 31 December 2021, thirty-eight institutions across Australia submitted data to the Australian Group on Antimicrobial Resistance (AGAR) from patients aged < 18 years (AGAR-Kids). Over the two years, 1,679 isolates were reported from 1,611 patients. This AGAR-Kids report aims to describe the population of children and adolescents with bacteraemia reported to AGAR and the proportion of resistant isolates.

Stable transduction of the neonatal mouse liver using a hybrid rAAV/sleeping beauty transposon gene delivery system.

Background: Conventional adeno-associated viral (AAV) vectors, while highly effective in quiescent cells such as hepatocytes in the adult liver, confer less durable transgene expression in proliferating cells owing to episome loss. Sustained therapeutic success is therefore less likely in liver disorders requiring early intervention. We have previously developed a hybrid, dual virion approach, recombinant AAV (rAAV)/piggyBac transposon system capable of achieving stable gene transfer in proliferating hepatocytes at levels many fold above conventional AAV vectors.

A qualitative study investigating the experiences of unmet social needs for children with cerebral palsy and their families: perspectives of parents and clinicians.

Purpose: To explore (i) the impact of unmet social needs on children with cerebral palsy and their families; (ii) enablers-, and (iii) barriers to addressing unmet social needs.

Material And Methods: Eligible participants attended or worked at one of the three Paediatric Rehabilitation Departments including: children with a diagnosis of cerebral palsy; parents/carers; and clinicians. One-on-one interviews were conducted with parents/carers and focus groups with clinicians.

Factorial randomised controlled trial to examine the potential effect of a text message-based intervention on reducing adolescent susceptibility to e-cigarette use: a study protocol.

Introduction: Adolescent e-cigarette use, globally and within Australia, has increased in recent years. In response, public health agencies have called for the development of education and communication programmes targeting adolescents. Despite such recommendations, few rigorous evaluations of such interventions currently exist.

Internet-based Surveillance Systems and Infectious Diseases Prediction: An Updated Review of the Last 10 Years and Lessons from the COVID-19 Pandemic.

The last decade has seen major advances and growth in internet-based surveillance for infectious diseases through advanced computational capacity, growing adoption of smart devices, increased availability of Artificial Intelligence (AI), alongside environmental pressures including climate and land use change contributing to increased threat and spread of pandemics and emerging infectious diseases. With the increasing burden of infectious diseases and the COVID-19 pandemic, the need for developing novel technologies and integrating internet-based data approaches to improving infectious disease surveillance is greater than ever. In this systematic review, we searched the scientific literature for research on internet-based or digital surveillance for influenza, dengue fever and COVID-19 from 2013 to 2023.

Gene therapy clinical trials worldwide to 2023-an update.

To date, 3,900 gene therapy clinical trials have been completed, are ongoing or have been approved worldwide. Our database brings together global information on gene therapy clinical activity from trial databases, official agency sources, published literature, conference presentations and posters kindly provided to us by individual investigators or trial sponsors. This review presents our analysis of clinical trials that, to the best of our knowledge, have been or are being performed worldwide.

Developing a Research Network of Early Warning Systems for Infectious Diseases Transmission Between China and Australia.

This article offers a thorough review of current early warning systems (EWS) and advocates for establishing a unified research network for EWS in infectious diseases between China and Australia. We propose that future research should focus on improving infectious disease surveillance by integrating data from both countries to enhance predictive models and intervention strategies. The article highlights the need for standardized data formats and terminologies, improved surveillance capabilities, and the development of robust spatiotemporal predictive models.

Enhanced AAV transduction across preclinical CNS models: A comparative study in human brain organoids with cross-species evaluations.

Viral vectors based on recombinant adeno-associated virus (rAAV) have become the most widely used system for therapeutic gene delivery in the central nervous system (CNS). Despite clinical safety and efficacy in neurological applications, a barrier to adoption of the current generation of vectors lies in their limited efficiency, resulting in limited transduction of CNS target cells. To address this limitation, researchers have bioengineered fit-for-purpose AAVs with improved CNS tropism and tissue penetration.

Perioperative pathways for children with neurodevelopmental conditions and behaviours that challenge: An evaluation of parent experiences for service improvement.

Aim: To elicit experiences of parents of children with neurodevelopmental conditions using a new perioperative pathway.

Method: Parents of children accessing an adapted perioperative clinical pathway in a tertiary children's hospital between July 2019 and December 2020 were invited to participate. A mixed method study was conducted comprising a short survey questionnaire followed by telephonic interviews.

Patient and carer transition outcomes and experiences at the Westmead Centre for Adolescent and Young Adult Health, Westmead, Australia: protocol for a longitudinal cohort study.

Introduction: The Westmead Centre for Adolescent and Young Adult Health is a purpose-built facility supporting integrated care for young patients with a variety of long-term health conditions transitioning from paediatric services at the Children's Hospital at Westmead to adult services at Westmead Hospital, Australia.

Methods And Analysis: This protocol outlines a prospective, within-subjects, repeated-measures longitudinal cohort study to measure self-reported experiences and outcomes of patients (12-25 years) and carers accessing transition care at the Centre for Adolescent and Young Adult Health. Longitudinal self-report data will be collected using Research Electronic Data Capture surveys at the date of service entry (recruitment baseline), with follow-ups occurring at 6 months, 12 months, 18 months and after transfer to adult services.

A national education program for rapid genomics in pediatric acute care: Building workforce confidence, competence, and capability.

Purpose: To develop and evaluate a scalable national program to build confidence, competence and capability in the use of rapid genomic testing (rGT) in the acute pediatric setting.

Methods: We used theory-informed approaches to design a modular, adaptive program of blended learning aimed at diverse professional groups involved in acute pediatric care. The program comprised 4 online learning modules and an online workshop and was centered on case-based learning.

Herpes simplex virus in infancy: Evaluation of national surveillance case capture.

Aim: As herpes simplex virus (HSV) in infancy is not a mandatory notifiable condition in Australia, completeness of ascertainment by the Australian Paediatric Surveillance Unit (APSU) has been difficult to evaluate to date. We evaluated case capture in Queensland (QLD) and Western Australia (WA) using statewide laboratory and clinical data and complementary surveillance data collected via the APSU.

Methods: HSV polymerase chain reaction positive results in infants (0-3 months) from 2007 to 2017 were obtained from statewide public pathology providers in QLD and WA.

State- and Circuit-Dependent Opponent Processing of Fear.

The presence of valence coding neurons in the basolateral amygdala (BLA) that form distinct projections to other brain regions implies functional opposition between aversion and reward during learning. However, evidence for opponent interactions in fear learning is sparse and may only be apparent under certain conditions. Here we test this possibility by studying the roles of the BLA→central amygdala (CeA) and BLA→nucleus accumbens (Acb) pathways in fear learning in male rats.

Prevalence, distribution, and inequitable co-occurrence of mental ill-health and substance use among gender and sexuality diverse young people in Australia: epidemiological findings from a population-based cohort study.

Purpose: To estimate the prevalence, distribution, and co-occurrence of mental ill-health and substance use among gender and sexuality diverse young people relative to their cisgender and heterosexual peers in Australia using population-level, nationally representative data.

Methods: We utilised Wave 8 (2018) data from the Longitudinal Study of Australian Children (N = 3037, M = 18.4) collected via an assessment protocol comprising interviews, direct observations, and assessments (on average 60 min per survey occasion).

Health Care Needs and Costs for Children Exposed to Prenatal Substance Use to Adulthood.

Importance: Children exposed to substance use during pregnancy have increased health needs but whether these are influenced by engagement in out-of-home care is uncertain.

Objective: To evaluate the association between substance use during pregnancy, out-of-home care and hospitalization utilization, and costs from birth up to age 20 years.

Design, Setting, And Participants: This was a retrospective cohort study using individual-linked population birth, hospital, and out-of-home care information of all liveborn infants from New South Wales, Australia, between 2001 and 2020 using longitudinal population-based linkage records from administrative databases.

Development of a new social prescribing intervention for families of children with cerebral palsy.

Aim: To co-design a social prescribing intervention (the EPIC-CP programme: Equitable Pathways and Integrated Care in Cerebral Palsy) with children with cerebral palsy (CP), their families, and clinicians to address unmet social needs.

Method: The study was conducted (August 2021 to March 2023) at the paediatric rehabilitation departments of the three tertiary paediatric hospitals in New South Wales, Australia. Eligible participants attended or worked at one of the departments, including children with CP, parents/caregivers, and clinicians.

Clinician Perceptions of Family-Centered Care in Pediatric and Congenital Heart Settings.

Importance: Family-centered care recognizes families as central to child health and well-being and prioritizes clinician collaboration with families to ensure optimal pediatric care and outcomes. Clinician interpersonal sensitivity and communication skills are key to this approach.

Objective: To examine perceptions of and factors associated with family-centered care among clinicians working in pediatric and congenital heart care.