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Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart disease

Genomic sequencing in congenital heart disease (CHD) patients often discovers novel genetic variants, which are classified as variants of uncertain significance (VUS). Functional analysis of each VUS is required in specialised laboratories, to determine whether the VUS is disease causative or not, leading to lengthy diagnostic delays.

What happens at two? Immunisation stakeholders’ perspectives on factors influencing sub-optimal childhood vaccine uptake for toddlers in regional and remote Western Australia

In Western Australia (WA), children aged 24 months living regionally or remotely (non-urban) have suboptimal vaccine uptake. As there has not yet been a systematic approach to understanding the facilitators and barriers to childhood vaccination in regional and remote WA, this study aimed to understand the views of key immunisation stakeholders regarding barriers and solutions.

Impact of early childhood infection on child development and school performance: a population-based study

Childhood infection might be associated with adverse child development and neurocognitive outcomes, but the results have been inconsistent. 

Effects of a live versus heat-inactivated probiotic Bifidobacterium spp in preterm infants: a randomised clinical trial

Heat-inactivated probiotics (HPs) may provide an effective alternative to live probiotics by avoiding their risks (eg, probiotic sepsis) while retaining the benefits. We assessed the safety and efficacy of a HP in very preterm (VP: gestation <32 weeks) infants.  

Erdosteine in children and adults with bronchiectasis (BETTER trial): study protocol for a multicentre, double-blind, randomised controlled trial

Bronchiectasis is a worldwide chronic lung disorder where exacerbations are common. It affects people of all ages, but especially Indigenous populations in high-income nations. Despite being a major contributor to chronic lung disease, there are no licensed therapies for bronchiectasis and there remain relatively few randomised controlled trials (RCTs) conducted in children and adults.

The longitudinal microbial and metabolic landscape of infant cystic fibrosis: the gut-lung axis

In cystic fibrosis, gastrointestinal dysfunction and lower airway infection occur early and are independently associated with poorer outcomes in childhood. This study aimed to define the relationship between the microbiota at each niche during the first 2 years of life, its association with growth and airway inflammation, and explanatory features in the metabolome. 

Contribution of vaccination to improved survival and health: modelling 50 years of the Expanded Programme on Immunization

WHO, as requested by its member states, launched the Expanded Programme on Immunization (EPI) in 1974 to make life-saving vaccines available to all globally. To mark the 50-year anniversary of EPI, we sought to quantify the public health impact of vaccination globally since the programme's inception.

Respiratory Viral Testing Rate Patterns in Young Children Attending Tertiary Care Across Western Australia: A Population-Based Birth Cohort Study

Belaynew Christopher Peter Hannah Minda Huong Taye Blyth Richmond Moore Sarna Le MD, MPH, PhD MBBS (Hons) DCH FRACP FRCPA PhD MBBS MRCP(UK) FRACP OAM

Pathways of Socioeconomic Disadvantage and Peer Bullying in Children and Youth: A Scoping Review

Growing up in socioeconomic disadvantage increases risk of peer bullying at school. Both socioeconomic status and involvement in bullying are predictive of a range of adverse developmental outcomes. However, neither (a) the mechanisms whereby disadvantage increases bullying risk nor (b) the developmental outcomes for which bullying may mediate disadvantage are clear. 

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 resembling common patterns of alcohol consumption in pregnancy in humans.