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Research

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.

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The type II RAF inhibitor tovorafenib in relapsed/refractory pediatric low-grade glioma: the phase 2 FIREFLY-1 trial

BRAF genomic alterations are the most common oncogenic drivers in pediatric low-grade glioma.

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Factors influencing public perceptions of child neglect: A mixed methods study

More than 1 in 5 children experience neglect, exposing them to several adverse consequences. Children with intellectual disability experience additional neglect related challenges. Public perceptions significantly influence the identification, intervention, and prevention of child neglect. 

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Goal Motives, Mental Contrasting With Implementation Intentions, and the Self-Regulation of Saving Goals: A Longitudinal Investigation

We investigated howautonomous and controlled motives for saving money contribute longitudinally to selfregulatory coping, goal progress, and psychological need satisfaction/frustration. We also investigated whether mental contrasting with implementation intentions (MCII) facilitates saving through interactions with controlled goal motives.

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The influence of the COVID pandemic on the management of URTI in children

Britta Regli-von Ungern-Sternberg MD, PhD, DEAA, FANZA Chair of Paediatric anaesthesia, University of Western Australia; Consultant Paediatric

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Skin-Microbiome Assembly in Preterm Infants during the First Three Weeks of Life and Impact of Topical Coconut Oil Application

The structure and function of infant skin is not fully developed until 34 weeks of gestation, and this immaturity is associated with risk of late-onset sepsis (LOS). Topical coconut oil improves preterm-infant skin integrity and may reduce LOS. However, data on early-life skin-microbiome succession and potential effects of emollient skin care in preterm infants are scarce.

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A novel Fc-enhanced humanized monoclonal antibody targeting B7-H3 suppresses the growth of ESCC

Esophageal squamous cell carcinoma (ESCC) is a prevalent malignant tumor of the digestive tract with a low 5-year survival rate due to the lack of effective treatment methods. Although therapeutic monoclonal antibodies (mAbs) now play an important role in cancer therapy, effective targeted mAbs are still lacking for ESCC. 

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The Effectiveness of Strategies to Improve User Engagement With Digital Health Interventions Targeting Nutrition, Physical Activity, and Overweight and Obesity: Systematic Review and Meta-Analysis

Digital health interventions (DHIs) are effective in improving poor nutrition, physical inactivity, overweight and obesity. There is evidence suggesting that the impact of DHIs may be enhanced by improving user engagement. However, little is known about the overall effectiveness of strategies on engagement with DHIs.

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Parental awareness and attitudes towards prevention of respiratory syncytial virus in infants and young children in Australia

To assess parental awareness of respiratory syncytial virus (RSV) and the level of acceptance of future RSV prevention strategies. A cross-sectional online survey was implemented targeting "future" and "current" parents of children aged ≤5 years in Australia.

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Systematic Review and Meta-Analysis: Early Irritability as a Transdiagnostic Neurodevelopmental Vulnerability to Later Mental Health Problems

Irritability is a transdiagnostic indicator of child and adolescent internalizing and externalizing problems that is measurable from early life. The objective of this systematic review was to determine the strength of the association between irritability measured from 0 to 5 years and later internalizing and externalizing problems, to identify mediators and moderators of these relationships, and to explore whether the strength of the association varied according to irritability operationalization.