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Stepwise GATA1 and SMC3 mutations alter megakaryocyte differentiation in a Down syndrome leukemia modelAcute megakaryoblastic leukemia of Down syndrome (DS-AMKL) is a model of clonal evolution from a preleukemic transient myeloproliferative disorder requiring both a trisomy 21 (T21) and a GATA1s mutation to a leukemia driven by additional driver mutations.
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3DFAACTS-SNP: using regulatory T cell-specific epigenomics data to uncover candidate mechanisms of type 1 diabetes (T1D) riskGenome-wide association studies (GWAS) have enabled the discovery of single nucleotide polymorphisms (SNPs) that are significantly associated with many autoimmune diseases including type 1 diabetes (T1D). However, many of the identified variants lie in non-coding regions, limiting the identification of mechanisms that contribute to autoimmune disease progression.
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Associations between the built environment and emotional, social and physical indicators of early child development across high and low socioeconomic neighbourhoodsEmerging evidence indicates that the built environment influences early child development. Access to, and the quality of, built environment features vary with the socioeconomic status (SES) of neighbourhoods. It has not yet been established whether the association between built environment features and early child development varies by neighbourhood SES.
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Modelled estimates of hospitalisations attributable to respiratory syncytial virus and influenza in Australia, 2009–2017Respiratory syncytial virus (RSV) and influenza are important causes of disease in children and adults. In Australia, information on the burden of RSV in adults is particularly limited.
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Macrophage PD-1 associates with neutrophilia and reduced bacterial killing in early cystic fibrosis airway diseaseMacrophages are the major resident immune cells in human airways coordinating responses to infection and injury. In cystic fibrosis, neutrophils are recruited to the airways shortly after birth, and actively exocytose damaging enzymes prior to chronic infection, suggesting a potential defect in macrophage immunomodulatory function.
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Epidemiology of Neonatal Acute Respiratory Distress Syndrome: Prospective, Multicenter, International Cohort StudyAge-specific definitions for acute respiratory distress syndrome (ARDS) are available, including a specific definition for neonates (the "Montreux definition"). The epidemiology of neonatal ARDS is unknown. The objective of this study was to describe the epidemiology, clinical course, treatment, and outcomes of neonatal ARDS.
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Mapping BCG vaccination coverage in Ethiopia between 2000 and 2019The Bacille-Calmette–Guerin (BCG) vaccination remains the primary strategy to prevent severe disseminated TB in young children, particularly in high TB-burden countries such as Ethiopia. Accurate knowledge of vaccination coverage in small geographical areas is critically important to developing targeted immunization campaigns. Thus, this study aimed to investigate the spatiotemporal distributions and ecological level determinants of BCG vaccination coverage in Ethiopia.
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A pilot study to develop assessment tools for Group A Streptococcus surveillance studiesGroup A Streptococcus (GAS) causes pharyngitis (sore throat) and impetigo (skin sores) GAS pharyngitis triggers rheumatic fever (RF) with epidemiological evidence supporting that GAS impetigo may also trigger RF in Australian Aboriginal children. Understanding the concurrent burden of these superficial GAS infections is critical to RF prevention. This pilot study aimed to trial tools for concurrent surveillance of sore throats and skins sore for contemporary studies of RF pathogenesis including development of a sore throat checklist for Aboriginal families and pharynx photography.
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Ancestral SARS-CoV-2, but not Omicron, replicates less efficiently in primary pediatric nasal epithelial cellsChildren typically experience more mild symptoms of Coronavirus Disease 2019 (COVID-19) when compared to adults. There is a strong body of evidence that children are also less susceptible to Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) infection with the ancestral viral isolate.
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Spatiotemporal mapping of malaria incidence in Sudan using routine surveillance dataMalaria is a serious threat to global health, with over 95 % of the cases reported in 2020 by the World Health Organization in African countries, including Sudan. Sudan is a low-income country with a limited healthcare system and a substantial burden of malaria.