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Research

Germline pathogenic variants in the RAS/mitogen-activated protein kinase (MAPK) signaling pathway are the molecular cause of RASopathies, a group of clinically overlapping genetic syndromes. RASopathies constitute a wide clinical spectrum characterized by distinct facial features, short stature, predisposition to cancer, and variable anomalies in nearly all the major body systems. 

Research

Diabetes in pregnancy is associated with increased risk of long-term metabolic disease in the offspring, potentially mediated by in utero epigenetic variation. Previously, we identified multiple differentially methylated single CpG sites in offspring of women with gestational diabetes mellitus, but whether stretches of differentially methylated regions can also be identified in adolescent GDM offspring is unknown.

Research

While undernutrition has been identified as a common risk factor for tuberculosis (TB), its impact on treatment outcomes has yet to be investigated in high TB burden and low-income countries such as Ethiopia. Therefore, this study aimed to investigate the effect of undernutrition on treatment outcomes among patients with TB in northwest Ethiopia. 

Research

Respiratory syncytial virus (RSV) is a leading cause of acute lower respiratory tract infection in young children and the second leading cause of infant death worldwide. While global circulation has been extensively studied for respiratory viruses such as seasonal influenza, and more recently also in great detail for SARS-CoV-2, a lack of global multi-annual sampling of complete RSV genomes limits our understanding of RSV molecular epidemiology.

Research

Language is significant for communicating knowledge across cultures and generations and has the power to attribute meanings and alter our worldviews. More than 250 Aboriginal and Torres Strait Islanders languages were spoken in 1788. This number has diminished to approximately 110 languages spoken in 2016, of which 90% were considered endangered in 2019. Language custodians and speakers across Australia are working to preserve and ensure languages are strongly spoken into the future.

Research

Peers play a crucial role in supporting wellbeing and psychosocial development for young people aged 12-25. However, a cancer experience often leads to challenges maintaining friendships. There have been no prior attempts to map or synthesise available research or resources on support specifically from friends for young people with cancer, limiting the capacity to draw conclusions or determine next steps for how to best support young people with cancer. This review aims to address this gap by mapping and synthesising the available literature and resources.

Research

To characterise small-area geographical variation in the prevalence of diabetes in Australian youth. A combined statistical reconstruction and small-area estimation algorithm was applied to privacy-modulated data from the 2021 Australian Census. 

Research

Sleep problems occur in up to 20%-45% of adolescents. This systematic review and meta-analysis examined the effectiveness of digital sleep interventions, based on cognitive behavioural therapy for insomnia, for adolescents with insomnia symptoms. The objective was to synthesise and quantify, through meta-analyses, changes in sleep following completion of a digital sleep-based intervention. 

Research

Tropomyosin receptor kinase (TRK) fusions are detected in less than 2% of central nervous system tumors. There are limited data on the clinical course of affected patients. 

Research

In pediatric cancer precision medicine clinical trials settings, parents proactively seeking treatment and answers to causation may request return of their child's raw data and/or biospecimen. To satisfy such requests, the ZERO Childhood Cancer Program required a guidance document.