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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.
Yalemzewod Assefa Gelaw PhD, MPH, BSc Honorary Research Associate Yalemzewod.Gelaw@thekids.org.au Honorary Research Associate Dr Yalemzewod Gelaw
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.
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.
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.
Childhood is a critical period for the development of movement behaviours such as physical activity, sleep and sedentary behaviour. The PLAYCE Cohort was established to investigate how movement behaviours change over early to middle childhood, across key behaviour settings and relationships with health and development. An overview of the PLAYCE cohort, summary of key findings to date, and future research opportunities are presented.
Shannon Simpson BMedSci (hons), PhD Head, Strong Beginnings Research, Co-head Foundations of Lung Disease 08 6319 1631 Shannon.simpson@thekids.org.au
Active nasal surveillance culture (ANSC) is recognized to enable rapid detection of antibiotic-resistant bacteria in the intensive care unit (ICU), which can contribute to the prevention of Ventilator-associated pneumonia (VAP). This study aims to evaluate the usefulness of ANSC in assessing the development of VAP in ICU patients.
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.
Youth sports programs provide an opportunity to embed mental health and wellbeing programs to reach young people with mental health support. The aims of this study were to (a) examine mental health outcomes from a youth sports program including a mental health program (Life-Fit-Learning) in adolescent boys and girls, and (b) among the larger cohort of adolescent boys, to examine whether partial or full completion of Life-Fit-Learning yielded different outcomes for boys within healthy and high-risk ranges for anxiety, depression and behavioral concerns.