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Future-proofing genomic data and consent management: a comprehensive review of technology innovationsGenomic information is increasingly used to inform medical treatments and manage future disease risks. However, any personal and societal gains must be carefully balanced against the risk to individuals contributing their genomic data. Expanding our understanding of actionable genomic insights requires researchers to access large global datasets to capture the complexity of genomic contribution to diseases.
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Lung function changes in children exposed to mine fire smoke in infancyChronic, low-intensity air pollution exposure has been consistently associated with reduced lung function throughout childhood. However, there is limited research regarding the implications of acute, high-intensity air pollution exposure. We aimed to determine whether there were any associations between early life exposure to such an episode and lung growth trajectories.
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Quantitative subcellular reconstruction reveals a lipid mediated inter-organelle biogenesis networkThe structures and functions of organelles in cells depend on each other but have not been systematically explored. We established stable knockout cell lines of peroxisomal, Golgi and endoplasmic reticulum genes identified in a whole-genome CRISPR knockout screen for inducers of mitochondrial biogenesis stress, showing that defects in peroxisome, Golgi and endoplasmic reticulum metabolism disrupt mitochondrial structure and function.
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Malaria risk stratification in Lao PDR guides program planning in an elimination settingMalaria in Lao People's Democratic Republic (Lao PDR) has declined rapidly over the last two decades, from 279,903 to 3926 (99%) cases between 2001 and 2021. Elimination of human malaria is an achievable goal and limited resources need to be targeted at remaining hotspots of transmission.
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Burden of drug-resistant tuberculosis among contacts of index cases: A protocol for a systematic reviewPeople having close contact with drug-resistant tuberculosis (DR-TB) patients are at increased risk of contracting and developing the disease. However, no comprehensive review has been undertaken to estimate the burden of DR-TB among contacts of DR-TB patients. Therefore, the current systematic review will quantify the prevalence and incidence of DR-TB among contacts of DR-TB patients.
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Updating estimates of Plasmodium knowlesi malaria risk in response to changing land use patterns across Southeast AsiaPlasmodium knowlesi is a zoonotic parasite that causes malaria in humans. The pathogen has a natural host reservoir in certain macaque species and is transmitted to humans via mosquitoes of the Anopheles Leucosphyrus Group. The risk of human P. knowlesi infection varies across Southeast Asia and is dependent upon environmental factors.
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Pediatric Staphylococcus aureus Bacteremia: Clinical Spectrum and Predictors of Poor OutcomeStaphylococcus aureus is a common cause of bacteremia, yet the epidemiology and predictors of poor outcome remain inadequately defined in childhood. ISAIAH (Invasive Staphylococcus aureus Infections and Hospitalizations in children) is a prospective, cross-sectional study of S. aureus bacteremia in children hospitalized in Australia and New Zealand over 24 months.
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The burden of bacterial skin infection, scabies and atopic dermatitis among urban-living Indigenous children in high-income countries: a protocol for a systematic reviewBacterial skin infections and scabies disproportionately affect children in resource-poor countries as well as underprivileged children in high-income countries. Atopic dermatitis is a common childhood dermatosis that predisposes to bacterial skin infection.
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A brief history of MECP2 duplication syndrome: 20-years of clinical understandingMECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl-CpG-binding protein 2 (MECP2) gene-a gene in which loss-of-function mutations lead to Rett syndrome (RTT). MDS has an estimated live birth prevalence in males of 1/150,000.
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An investigation of a novel broad autism phenotype: increased facial masculinity among parents of children on the autism spectrumThe broad autism phenotype commonly refers to sub-clinical levels of autistic-like behaviour and cognition presented in biological relatives of autistic people. In a recent study, we reported findings suggesting that the broad autism phenotype may also be expressed in facial morphology, specifically increased facial masculinity.