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Benchmarking Imputed Low Coverage Genomes in a Human Population Genetics Context

Ongoing advances in population genomic methodologies have recently enabled the study of millions of loci across hundreds of genomes at a relatively low cost, by leveraging a combination of low-coverage shotgun sequencing and innovative genotype imputation methods. This approach has the potential to provide abundant genotype information at low costs comparable to another widely used cost-effective genotyping approach-that is, SNP panels-while avoiding potential issues related to loci being ascertained in distantly related populations.

Rewiring endogenous genes in CAR T cells for tumour-restricted payload delivery

The efficacy of chimeric antigen receptor (CAR) T cell therapy in solid tumours is limited by immunosuppression and antigen heterogeneity. To overcome these barriers, 'armoured' CAR T cells, which secrete proinflammatory cytokines, have been developed. However, their clinical application has been limited because of toxicity related to peripheral expression of the armouring transgene. 

The mitophagy receptors BNIP3 and NIX mediate tight attachment and expansion of the isolation membrane to mitochondria

BNIP3 and NIX are the main receptors for mitophagy, but their mechanisms of action remain elusive. Here, we used correlative light EM (CLEM) and electron tomography to reveal the tight attachment of isolation membranes (IMs) to mitochondrial protrusions, often connected with ER via thin tubular and/or linear structures.

Examining the overlap in lymphatic filariasis prevalence and malaria insecticide-treated net access-use in endemic Africa

Eradication and elimination strategies for lymphatic filariasis (LF) primarily rely on multiple rounds of annual mass drug administration (MDA), but also may benefit from vector control interventions conducted by malaria vector control programs. We aim to examine the overlap in LF prevalence and malaria vector control to identify potential gaps in program coverage. 

Caregiver-reported meaningful change in functional domains for individuals with developmental and epileptic encephalopathy: A convergent mixed-methods design

To investigate how caregivers of children with developmental and epileptic encephalopathy and severe developmental impairments describe meaningful change for functional domains and why it is important.

Azithromycin mitigates human rhinovirus impact on barrier integrity and function in non-diseased airway epithelium

Azithromycin improves symptomology in various chronic airway diseases exacerbated by viral infections. However, the mechanisms underlying the apparent antiviral effects of azithromycin remain unclear.

The Costs and Benefits of ‘Passing’: A Systematic Review of the Qualitative Evidence on Passing for Trans Individuals and Communities

Passing is a contentious issue within the trans community. Some trans people strive to pass as cisgender as an inherent goal or to reduce dysphoria, enhance safety, and potentially to facilitate acceptance. Others argue that trans people should not need to pass and that expectations to do so can cause harm to the trans community. This review aimed to systematically source and synthesize the existing qualitative literature that explores the costs and benefits of passing for trans people. 

Diaphragm Function in Very Preterm Infants at 36 Weeks' Postmenstrual Age

Understand how bronchopulmonary dysplasia (BPD) and antenatal and postnatal factors influence diaphragmatic functional effectiveness in very preterm infants.

Mapping traditional birth attendance in sub-Saharan Africa between 2012 and 2023: analysis of data from demographic and health surveys

Traditional birth attendance (TBA) remains common in Sub-Saharan Africa (SSA), impacting maternal and neonatal mortality rates. This study aimed at producing high-resolution geospatial estimates and identifying predictors of TBA-assisted childbirth in SSA.

Teaching Kitchens: An innovative program for enhancing self-management skills in adolescents living with type 1 diabetes (T1D) – A feasibility study

Adolescents living with type 1 diabetes (T1D) are faced with unique challenges to nutrition management. The current Perth Children's Hospital (PCH) T1D management model includes individualised education at diagnosis and annual reviews. Currently, no group education is provided to develop self-management skills for healthy meal preparation. Teaching Kitchens offers a skills-based program in food literacy and nutrition. This feasibility study explored if a Teaching Kitchens program at PCH engaged adolescents aged between 13 and 17 years, living with T1D.