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Research

Birk-Landau-Perez syndrome is a genetic disorder caused by biallelic pathogenic variants in SLC30A9 presenting with a complex movement disorder, developmental regression, oculomotor abnormalities, and renal impairment. It has previously been reported in 2 families. We describe the clinical phenotype of 8 further individuals from 4 unrelated families with SLC30A9-related disease.

Research

Preterm birth (PTB) and stillbirth remain two of the most important causes of death, morbidity, and disability in childhood. Despite efforts to reduce PTB and stillbirth worldwide, rates of these adverse outcomes remain persistently elevated, independent of income setting. There is an urgent need for more effective interventions to reduce associated neonatal and early childhood morbidity and mortality.

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Previous studies showed that unfavourable weather conditions discourage physical activity. However, it remains unclear whether unfavourable weather conditions have a differential impact on physical activity in children compared with adults.

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No studies have yet examined high-resolution shifts in the spatial patterns of human movement in Australia throughout 2020 and 2021, a period coincident with the repeated enactment and removal of varied governmental restrictions aimed at reducing community transmission of SARS-CoV-2. We compared overlapping timeseries of COVID-19 pandemic-related restrictions, epidemiological data on cases and vaccination rates, and high-resolution human movement data to characterize population-level responses to the pandemic in Australian cities.

Research

Seasonal influenza vaccine is effective against influenza hospitalisations, but little is known about non-specific effects of the vaccine on other respiratory pathogens with similar seasonal patterns. We aimed to assess the causal impact of seasonal influenza vaccine on laboratory-confirmed hospitalisations for respiratory syncytial virus (RSV) in children using an instrumental variable strategy.

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Children with congenital heart defects (CHDs) are at higher risk of developing an intellectual disability. However, severity of intellectual disabilities among this group of children are largely unknown. Our objective was to determine the risk of intellectual disability (ID), ID severity, and autism among children with CHDs.

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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.

Research

Parents must rapidly adapt goals from various aspects of their lives to accommodate the demands of the early stages of parenthood. According to the self-concordance model, having autonomous goal motives (based on enjoyment or personal goal value) should foster effective self-regulation (e.g., coping strategies), better goal management, and increase the likelihood of goal attainment, compared to controlled motives (goals driven by demands/pressures).

Research

The COVID-19 pandemic has highlighted personal protective equipment (PPE) supply, distribution, and disposal issues worldwide. Calls to conserve PPE stocks and increase supply resulted in the rapid development of potential disinfection methods, with the possibility of improvements in medical waste reduction. However, how receptive health-care workers are to PPE reuse remains unknown. We aimed to examine the views of health-care workers who used PPE during the first COVID-19 wave in Aotearoa New Zealand, in relation to acceptability of PPE disinfection and reuse.

Research

Patients with comorbid asthma-obesity experience greater disease severity and are less responsive to therapy. We have previously reported adipose tissue within the airway wall that positively correlated with body mass index. Accumulation of biologically active adipose tissue may result in the local release of adipokines and disrupt large and small airway function depending on its anatomical distribution. This study therefore characterized airway-associated adipose tissue distribution, lipid composition, and adipokine activity in a porcine model.