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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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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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The role of WhatsApp™ in pediatric difficult airway management: A study from the PeDI Collaborative

Management of the pediatric difficult airway can present unique clinical challenges. The Pediatric Difficult Intubation Collaborative (PeDI-C) is an international collaborative group engaging in quality improvement and research in children with difficult airways. The PeDI-C established a WhatsApp™ group to facilitate real-time discussions around the management of the difficult airway in pediatric patients.

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

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

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Stroke incidence in Indigenous, minority populations: a review of methods for studying stroke in Aboriginal and Torres Strait Islander Australians

Declining worldwide or national stroke incidence rates are not always mirrored in disadvantaged, minority populations. Logistical barriers exist for effective measurement of incidence in minority populations; such data are required to identify targets for culturally appropriate interventions. In this comparative review, we aimed to examine whether “gold-standard” methodologies of stroke incidence studies are most effective for minority populations.

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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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Iron Deficiency in Young Australian Children: A Hidden Health Crisis Demanding Urgent Action

Desiree Silva MBBS, FRACP, MPH, PhD Co-Head, ORIGINS Co-Head, The ORIGINS Project Professor Desiree Silva is Co-Director of ORIGINS and a Professor

Research

Oscillometry: clinical significance and applications

Respiratory oscillometry (or the forced oscillation technique) is a highly practical lung function test that can be applied in a wide range of clinical scenarios in children and adults, including the clinic, intensive care unit, patient home monitoring and emergency departments. Oscillometry measurements complement spirometry in detecting abnormal lung function, measuring effects of treatment such as inhaled corticosteroids or bronchodilators, and changes due to disease activity.

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Predicting NSSI among trans young people: the role of transphobic experiences, body image, and gender dysphoria

Non-suicidal self-injury (NSSI) is particularly common among trans young people. NSSI is most commonly used as an emotion regulation strategy, which may explain the high prevalence of the behavior among trans young people, who often experience unique stressors. In the current study we test an application of the Pantheoretical Framework of Dehumanization, in which transphobic experiences, body surveillance, body dissatisfaction, and gender dysphoria are all theorized to predict NSSI.