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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

Determining risk features for medulloblastoma in the molecular era

Nick Gottardo MBChB FRACP PhD Co-Head, Brain Tumour Research nicholas.gottardo@thekids.org.au Co-Head, Brain Tumour Research Professor Nick Gottardo

Research

Malaria in Nepal: A Spatiotemporal Study of the Disease Distribution and Challenges on the Path to Elimination

Malaria incidence (MI) has significantly declined in Nepal, and this study aimed to investigate the spatiotemporal distribution and drivers of MI at the ward level. Data for malaria cases were obtained from the National Surveillance System from 2013 to 2021. Data for covariates, including annual mean temperature, annual mean precipitation, and distance to the nearest city, were obtained from publicly available sources. A Bayesian spatial model was used to identify factors associated with the spatial distribution of MI.

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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.  

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Pregnancy with multiple high-risk factors: a systematic review and meta-analysis

A wide spectrum of high-risk factors in pregnancy can lead to adverse pregnancy outcomes or short- or long-term health effects. Despite this, there has been no synthesis of findings on the measurement, potential causes, and health outcomes of multiple high-risk factors in pregnancy. We aimed to address this gap by summarising the existing research on this topic.

Research

Optimisation of the sampling method for skin microbiome studies in healthy children: a pilot cohort study

Recent interest in the diverse ecosystem of bacteria, fungi and viruses that make up the skin microbiome has led to numerous studies investigating the skin microbiome in healthy skin and in dermatological conditions. However, skin microbiome analysis is challenging due to relatively low numbers of skin microorganisms compared to mucosal sites, such as the respiratory or gastrointestinal tracts. Microbiome results are heavily influenced by sampling methods.

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Antimicrobial Resistance in Enterobacterales, Acinetobacter spp. and Pseudomonas aeruginosa Isolates From Bloodstream Infections in Australian Children, 2013–2021

Gram-negative bloodstream infections are associated with significant morbidity and mortality in children. Increasing antimicrobial resistance (AMR) is reported globally, yet efforts to track pediatric AMR at a national level over time are lacking.

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Invasive fungal disease and antifungal prophylaxis in children with acute leukaemia: a multicentre retrospective Australian cohort study

Invasive fungal disease (IFD) is a common and important complication in children with acute myeloid leukaemia (AML). We describe the epidemiology of IFD in a large multicentre cohort of children with AML.

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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.