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Research
Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart diseaseGenomic 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 trialBRAF 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 studyMore 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 InvestigationWe 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 childrenBritta Regli-von Ungern-Sternberg AM FAHMS MD, PhD, DEAA, FANZA Chair of Paediatric anaesthesia, University of Western Australia; Consultant
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What Do Food Business Owners and Managers Think About Enhancing the Nutritional Quality of Kids' Menus in Sit-Down Eating-Out-of-Home Venues?As the frequency of eating out-of-home among Australian families increases, concerns have arisen regarding the nutritional quality of Kids' Menus. This study investigated the views of food business owners and managers on Kids' Menus at sit-down venues, specifically factors influencing the choice of meals offered on Kids' Menus and potential initiatives for enhancing the nutritional quality of these menus.
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Functional characterization of the MED12 p.Arg1138Trp variant in females: implications for neural development and disease mechanismSeven female individuals with multiple congenital anomalies, developmental delay and/or intellectual disability have been found to have a genetic variant of uncertain significance in the mediator complex subunit 12 gene. The functional consequence of this genetic variant in disease is undetermined, and insight into disease mechanism is required.
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Emerging elements of paediatric post-sepsis care programs: A scoping reviewSepsis is a significant cause of mortality for children in Australia, particularly affecting young children, those with pre-existing health conditions and Aboriginal and Torres Strait Islander populations. The transition from hospital to home can be challenging for survivors, often leaving long-term impacts unaddressed.
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Pediatric Bronchiectasis Action Management Plan to Improve Clinical Outcomes: A Randomized Controlled TrialManaging bronchiectasis exacerbations is a priority for patients, parents, and caregivers of children with bronchiectasis. However, evidence-based strategies among the pediatric population remain limited.
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Guiding practice principles for clinicians who work with Indigenous peopleCulturally safe healthcare approaches are important to improve outcomes of Indigenous people. Non-Indigenous clinicians are often ill-prepared to provide such healthcare. The NHMRC Centre for Research Excellence (CRE) especially for First Nations Children has been studying for several years how to improve clinical care for Indigenous children with respiratory disease in hospital, clinic, urban, rural and remote settings.