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Research

Interactions between the lipidome and genetic and environmental factors in autism

Autism omics research has historically been reductionist and diagnosis centric, with little attention paid to common co-occurring conditions (for example, sleep and feeding disorders) and the complex interplay between molecular profiles and neurodevelopment, genetics, environmental factors and health. Here we explored the plasma lipidome in 765 children (485 diagnosed with autism spectrum disorder (ASD)) within the Australian Autism Biobank.

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Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology

The large diversity of central nervous system (CNS) tumor types in children and adolescents results in disparate patient outcomes and renders accurate diagnosis challenging. In this study, we prospectively integrated DNA methylation profiling and targeted gene panel sequencing with blinded neuropathological reference diagnostics for a population-based cohort of more than 1,200 newly diagnosed pediatric patients with CNS tumors, to assess their utility in routine neuropathology.

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Stimulation of alpha-1 adrenoceptors may intensify cutaneous inflammation in complex regional pain syndrome

Alpha-1 adrenoceptors are overexpressed in the epidermis of a subgroup of patients with complex regional pain syndrome. Activating α 1 -adrenoceptors in epidermal cells increases production of the proinflammatory cytokine interleukin-6, a mediator of inflammation.

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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

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Thoracic Society of Australia and New Zealand (TSANZ) position statement on chronic suppurative lung disease and bronchiectasis in children, adolescents and adults in Australia and New Zealand

This position statement, updated from the 2015 guidelines for managing Australian and New Zealand children/adolescents and adults with chronic suppurative lung disease (CSLD) and bronchiectasis, resulted from systematic literature searches by a multi-disciplinary team that included consumers.

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The effect of TNF treatment uptake on incident hospital admission in Western Australia

Treatment strategies for juvenile idiopathic arthritis (JIA) have shifted significantly over the last 20 years. We examined the effect of the introduction of government-subsidised TNF inhibitor (TNFi) treatment on incident hospitalisation for JIA.

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Outcomes of rheumatic fever in Uganda: a prospective cohort study

Rheumatic heart disease is the largest contributor to cardiac-related mortality in children worldwide. Outcomes in endemic settings after its antecedent illness, acute rheumatic fever, are not well understood. We aimed to describe 3-5 year mortality, acute rheumatic fever recurrence, changes in carditis, and correlates of mortality after acute rheumatic fever. 

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Estimating measures to reduce the transmission of SARS-CoV-2 in Australia to guide a ‘National Plan’ to reopening

The availability of COVID-19 vaccines promised a reduction in the severity of disease and relief from the strict public health and social measures (PHSMs) imposed in many countries to limit spread and burden of COVID-19. We were asked to define vaccine coverage thresholds for Australia's transition to easing restrictions and reopening international borders. 

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Neonatal high frequency ventilation: Current trends and future directions

High frequency ventilation (HFV) in neonates has been in use for over forty years. Some early HFV ventilators are no longer available, but high frequency oscillatory ventilation (HFOV) and jet ventilators (HFJV) continue to be commonly employed. Advanced HFOV models available outside of the United States are much quieter and easier to use, and are available as options on many conventional ventilators, providing important improvements such as tidal volume measurement and targeting.