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Research

Zika Virus Changes Methylation of Genes Involved in Immune Response and Neural Development in Brazilian Babies Born With Congenital Microcephaly

The recent increase in babies born with brain and eye malformations in Brazil is associated with Zika virus (ZIKV) infection in utero. ZIKV alters host DNA methylation in vitro. Using genome-wide DNA methylation profiling we compared 18 babies born with congenital ZIKV microcephaly with 20 controls. We found ZIKV-associated alteration of host methylation patterns, notably at RABGAP1L which is important in brain development, at viral host immunity genes MX1 and ISG15, and in an epigenetic module containing the causal microcephaly gene MCPH1. Our data support the hypothesis that clinical signs of congenital ZIKV are associated with changes in DNA methylation.

Research

Pulmonary Gas Exchange Improves over the First Year in Preterm Infants with and without Bronchopulmonary Dysplasia

Right shift of the peripheral oxyhaemoglobin saturation (SpO2) versus inspired oxygen pressure (PIO2) curve is a sensitive marker of pulmonary gas exchange. The aim of this study was to assess the impact of prematurity and bronchopulmonary dysplasia (BPD) on gas exchange and right-to-left shunt in the neonatal period, and its evolution over the first year of life.

Research

Impact of covid-19 restrictions on western Australian children’s physical activity and screen time

Physical activity is essential for children’s healthy development, yet COVID-19 physical distancing restrictions such as school closures and staying at home, playground closures, and the cancelling of organised community sport have dramatically altered children’s opportunities to be physically active. This study describes changes in levels of physical activity and screen time from February 2020 (i.e., before COVID-19 restrictions were introduced in Western Australia) to May 2020 (i.e., when COVID-19 restrictions were in place). Parents of children aged 5 to 9 years from Western Australia were eligible to participate and recruited through convenience sampling.

Research

Maternal Allergic Disease Phenotype and Infant Birth Season Influence the Human Milk Microbiome

Early infancy is a critical period for immune development. In addition to being the primary food source during early infancy, human milk also provides multiple bioactive components that shape the infant gut microbiome and immune system and provides a constant source of exposure to maternal microbiota. Given the potential interplay between allergic diseases and the human microbiome, this study aimed to characterise the milk microbiome of allergic mothers.

Research

The Feasibility of Personalized Endpoints in Assessing Treatment Outcomes for Rare Diseases: A Pilot Study of Goal Attainment Scaling in SCN2A-Associated

For individuals living with rare neurodevelopmental disorders, particularly those who are at the most severe end of the spectrum, standardized outcome measures may lack the sensitivity to capture small but meaningful changes. 

Research

The Vsr-like protein FASTKD4 regulates the stability and polyadenylation of the MT-ND3 mRNA

Expression of the compact mitochondrial genome is regulated by nuclear encoded, mitochondrially localized RNA-binding proteins (RBPs). RBPs regulate the lifecycles of mitochondrial RNAs from transcription to degradation by mediating RNA processing, maturation, stability and translation. The Fas-activated serine/threonine kinase (FASTK) family of RBPs has been shown to regulate and fine-tune discrete aspects of mitochondrial gene expression.

Research

Mining single-cell data for cell type-disease associations

A robust understanding of the cellular mechanisms underlying diseases sets the foundation for the effective design of drugs and other interventions. The wealth of existing single-cell atlases offers the opportunity to uncover high-resolution information on expression patterns across various cell types and

Research

Social Support Buffers the Association Between Alcohol Use and Depression in Australian Men

Alcohol use and depression are known correlates of one another, especially in men, and are influenced by a range of demographic and psychosocial factors. This study examined the association between alcohol use and depressive symptoms in a large representative cohort of Australian men. We also tested whether this association differed by men's age, household income, social support, illicit drug use and help-seeking.

Research

Are assisted reproductive technology pregnancies more likely to be exposed to teratogenic medication? A whole-population study

Assisted reproductive technology (ART) pregnancies are at greater risk of birth defects than non-ART pregnancies. Teratogenic medication exposure is a potential cause of birth defects that has not been compared between ART and non-ART pregnancies.

Research

Profiling epithelial viral receptor expression in amniotic membrane and nasal epithelial cells at birth

Children with wheeze and asthma present with airway epithelial vulnerabilities, such as impaired responses to viral infection. It is postulated that the in utero environment may contribute to the development of airway epithelial vulnerabilities.