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Patterns, trends, and factors influencing hospitalizations for craniosynostosis in Western Australia. A population-based study

Understanding hospital service use among children with a diagnosis of craniosynostosis is important to improve services and outcomes. This study aimed to describe population-level trends, patterns, and factors influencing hospitalizations for craniosynostosis in Western Australia.

Investigating the Validity of the Australian Early Development Census

This article continues evaluation of the construct validity of the Australian Early Development Census through comparison with linked data from a sample of 2216 4-5 year old children collected as part of the Longitudinal Study of Australian Children.

It is more “unbalanced” than you think

Sébastien Malinge PhD Laboratory Head, Translational Genomics in Leukaemia, Senior Research Fellow (University of Western Australia), Adjunct Senior

Functional characterization of the MED12 p.Arg1138Trp variant in females: implications for neural development and disease mechanism

Seven 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.

Pediatric Bronchiectasis Action Management Plan to Improve Clinical Outcomes: A Randomized Controlled Trial

Managing bronchiectasis exacerbations is a priority for patients, parents, and caregivers of children with bronchiectasis. However, evidence-based strategies among the pediatric population remain limited.

The autism phenotype and transdiagnostic dimensional frameworks

A reliable and valid diagnostic classification system is pivotal for guiding clinical decision-making, facilitating rigorous and reproducible research findings, informing population-level health planning and resource allocation, and promoting well-being.

Patient-reported perceptions, experiences and preferences around intravenous and oral antibiotics for the treatment of Staphylococcus aureus bacteremia: a descriptive qualitative study

There is growing evidence to support partial oral antibiotic treatment of severe infections such as Staphylococcus aureus bacteremia, but clinical practice is slow to adopt this paradigm. We know little about how patients with severe infection experience and perceive intravenous and oral antibiotics in terms of quality of life and clinical effectiveness. We performed a qualitative study to elicit patients' views on treatment with intravenous and oral antibiotics, aiming to provide insights that could inform collaborative treatment decision-making.

Inferring temporal trends of multiple pathogens, variants, subtypes or serotypes from routine surveillance data

Estimating the temporal trends in infectious disease activity is crucial for monitoring disease spread and the impact of interventions. Surveillance indicators routinely collected to monitor these trends are often a composite of multiple pathogens. For example, "influenza-like illness"-routinely monitored as a proxy for influenza infections-is a symptom definition that could be caused by a wide range of pathogens, including multiple subtypes of influenza, SARS-CoV-2, and RSV.

Current Practices and Priorities of Anesthetists and Consumers for Infants Undergoing Inguinal Hernia Surgery

There is a paucity of data on the chosen anesthesia management for infant inguinal hernia surgery. We aimed to characterize self-reported anesthetic practice in Australia and New Zealand. We also aimed to identify the outcomes that matter to both anesthetists and to parents and carers.

A microRNA-based dynamic risk score for type 1 diabetes

Identifying individuals at high risk of type 1 diabetes (T1D) is crucial as disease-delaying medications are available. Here we report a microRNA (miRNA)-based dynamic (responsive to the environment) risk score developed using multicenter, multiethnic and multicountry ('multicontext') cohorts for T1D risk stratification. Discovery (wet and dry lab) analysis identified 50 miRNAs associated with functional β cell loss, which is a hallmark of T1D.