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Research

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.

Research

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.

Research

We performed a genome-wide association meta-analysis of 290,134 attention-deficit/hyperactivity disorder symptom measures of 70,953 unique individuals from multiple raters, ages and instruments. 

Research

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.

Research

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.

Research

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.

Research

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. 

Research

Impaired oxygen delivery or blood flow to the brain around the time of birth can cause injury. Hypoxic ischaemic encephalopathy is a leading cause of death and disability in term and near-term infants.

Research

Vitamin D has been recognized to have a significant impact on modulating immune response in the host body. The relationship between deficiency of Vitamin D and rectovaginal colonization with Group B Streptococcus (GBS) in pregnant women is still not well understood. 

Research

International guidelines recommend multidisciplinary intervention programs for addressing childhood obesity. In Western Australia, community-based healthy lifestyle programs for children and young people are insufficient for demand, especially for those over-represented in obesity statistics relating to prevalence. This protocol outlines the implementation and evaluation of an adapted, evidenced, community-based program in Perth, Western Australia.