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The landscape of genomic structural variation in Indigenous AustraliansIndigenous Australians harbour rich and unique genomic diversity. However, Aboriginal and Torres Strait Islander ancestries are historically under-represented in genomics research and almost completely missing from reference datasets. Addressing this representation gap is critical, both to advance our understanding of global human genomic diversity and as a prerequisite for ensuring equitable outcomes in genomic medicine.
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Developmental origins of psycho-cardiometabolic multimorbidity in adolescence and their underlying pathways through methylation markers: a two-cohort studyUnderstanding the biological mechanisms behind multimorbidity patterns in adolescence is important as they may act as intermediary risk factor for long-term health. We aimed to explore relationship between prenatal exposures and adolescent's psycho-cardiometabolic intermediary traits mediated through epigenetic biomarkers, using structural equation modeling (SEM).
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Altered dietary behaviour during pregnancy impacts systemic metabolic phenotypesEvidence suggests consumption of a Mediterranean diet (MD) can positively impact both maternal and offspring health, potentially mediated by a beneficial effect on inflammatory pathways. We aimed to apply metabolic profiling of serum and urine samples to assess differences between women who were stratified into high and low alignment to a MD throughout pregnancy and investigate the relationship of the diet to inflammatory markers.
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Feasibility and acceptability of the use of flash glucose monitoring encountered by Indigenous Australians with type 2 diabetes mellitus: initial experiences from a pilot studyType 2 diabetes mellitus (T2DM) is highly prevalent within the Indigenous Australian community. Novel glucose monitoring technology offers an accurate approach to glycaemic management, providing real-time information on glucose levels and trends. The acceptability and feasibilility of this technology in Indigenous Australians with T2DM has not been investigated.
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Maternal educational attainment in pregnancy and epigenome-wide DNA methylation changes in the offspring from birth until adolescenceMaternal educational attainment (MEA) shapes offspring health through multiple potential pathways. Differential DNA methylation may provide a mechanistic understanding of these long-term associations. We aimed to quantify the associations of MEA with offspring DNA methylation levels at birth, in childhood and in adolescence.
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Impacts of body weight change on treatment outcomes in patients with multidrug-resistant tuberculosis in Northwest EthiopiaMeasuring body weight during therapy has received insufficient attention in poor resource settings like Ethiopia. We aimed to investigate the association between weight change during therapy and treatment outcomes among patients with multidrug-resistant tuberculosis in northwest Ethiopia.
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Indigenous Australian genomes show deep structure and rich novel variationThe Indigenous peoples of Australia have a rich linguistic and cultural history. How this relates to genetic diversity remains largely unknown because of their limited engagement with genomic studies. Here we analyse the genomes of 159 individuals from four remote Indigenous communities, including people who speak a language (Tiwi) not from the most widespread family (Pama-Nyungan). This large collection of Indigenous Australian genomes was made possible by careful community engagement and consultation.
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A Deep Learning-Based System for the Assessment of Dental Caries Using Colour Dental PhotographsDental caries remains the most common chronic disease in childhood, affecting almost half of all children globally. Dental care and examination of children living in remote and rural areas is an ongoing challenge that has been compounded by COVID.
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Arriving at the empirically based conceptualization of restricted and repetitive behaviors: A systematic review and meta-analytic examination of factor analysesAn empirically based understanding of the factor structure of the restricted and repetitive behaviors (RRB) domain is a prerequisite for interpreting studies attempting to understand the correlates and mechanisms underpinning RRB and for measurement development. Therefore, this study aimed to conduct a systematic review and meta-analysis of RRB factor analytic studies.
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Reference exome data for Australian Aboriginal populations to support health-based researchOur data set provides a useful reference point for genomic studies on Aboriginal Australians