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Research

Excess Deaths Associated with Rheumatic Heart Disease, Australia, 2013-2017

During 2013–2017, the mortality rate ratio for rheumatic heart disease among Indigenous versus non-Indigenous persons in Australia was 15.9, reflecting health inequity. Using excess mortality methods, we found that deaths associated with rheumatic heart disease among Indigenous Australians were probably substantially undercounted, affecting accuracy of calculations based solely on Australian Bureau of Statistics data.

Research

World Society for Pediatric Infectious Diseases calls for action to ensure fair prices for vaccines

The eradication of smallpox is considered one of the greatest achievements of humankind, thanks to vaccination. The widespread availability of childhood vaccines has substantially reduced childhood morbidity and mortality. Devastating infections, such as polio, have almost disappeared due to vaccination. In 2021, it was estimated that vaccination against ten selected pathogens will have averted 69 million deaths between 2000 and 2030. Increases in vaccine coverage and introduction of additional vaccines should reduce lifetime mortality by 72% in the 2019 birth cohort. However, access to vaccines that prevent life-threatening and disabling infectious diseases remains unequal.

Research

Future-proofing genomic data and consent management: a comprehensive review of technology innovations

Genomic 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.

Research

Lung function changes in children exposed to mine fire smoke in infancy

Chronic, 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.

Research

Quantitative subcellular reconstruction reveals a lipid mediated inter-organelle biogenesis network

The 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 setting

Malaria 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. 

Research

Growth patterns in individuals with CDKL5 deficiency disorder

Aim: To compare growth in individuals with cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder with population norms and to investigate the effect of gastrostomy on growth. 

Research

Modeling COVID-19 disease processes by remote elicitation of causal Bayesian networks from medical experts

COVID-19 is a new multi-organ disease causing considerable worldwide morbidity and mortality. While many recognized pathophysiological mechanisms are involved, their exact causal relationships remain opaque. Better understanding is needed for predicting their progression, targeting therapeutic approaches, and improving patient outcomes. While many mathematical causal models describe COVID-19 epidemiology, none have described its pathophysiology.

Research

A novel transcriptional signature identifies T-cell infiltration in high-risk paediatric cancer

Molecular profiling of the tumour immune microenvironment (TIME) has enabled the rational choice of immunotherapies in some adult cancers. In contrast, the TIME of paediatric cancers is relatively unexplored. We speculated that a more refined appreciation of the TIME in childhood cancers, rather than a reliance on commonly used biomarkers such as tumour mutation burden (TMB), neoantigen load and PD-L1 expression, is an essential prerequisite for improved immunotherapies in childhood solid cancers.

Research

Experiences and Attitudes of Parents Reducing Carbohydrate Intake in the Management of Their Child’s Type 1 Diabetes: A Qualitative Study

Reducing carbohydrate (CHO) intake is being used as an approach to manage type 1 diabetes (T1D) in children. This study aimed to investigate the experiences and attitudes of parents of children with T1D who are reducing CHO intake to help manage blood glucose levels.