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X-Linked Hypophosphataemia and Burosumab: A Systemic Disease With a New TreatmentX linked hypophosphataemia (XLH) is a systemic, chronic condition that significantly impairs quality of life. In XLH, a phosphate regulating endopeptidase homologue X-linked (PHEX) gene mutation leads to excess fibroblast growth factor 23 (FGF23), causing hypophosphataemia and subsequent rickets, lower limb deformity, pain and other sequelae, however there are likely other non-FGF23 mediated mechanisms contributing to disease
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Trends in paediatric anaesthesia research publications and the impact of author sex, country of origin, topic, and external fundingThe current research landscape has become increasingly competitive with approximately 35% of submitted manuscripts accepted for publication by peer-review journals. It is known that studies with certain 'favourable characteristics' have an increased likelihood of acceptance for publication, such as prospective study design, multiple sites, and notable authors.
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Deciphering IGH rearrangement complexity and detection strategies in acute lymphoblastic leukaemiaAcute lymphoblastic leukaemia is a highly heterogeneous malignancy characterised by various genomic alterations that influence disease progression and therapeutic outcomes. Gene fusions involving the immunoglobulin heavy chain gene represent a complex and diverse category.
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Mapping traditional birth attendance in sub-Saharan Africa between 2012 and 2023: analysis of data from demographic and health surveysTraditional 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.
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Clostridioides (Clostridium) difficile infection in hospitalized adult patients in CambodiaDespite high levels of global concern, little is known about the epidemiology of Clostridioides (Clostridium) difficile infection (CDI) in Cambodia. This study aimed to identify the prevalence and risk factors for CDI, and molecular types of C. difficile in hospitalized adults at Calmette Hospital, Phnom Penh, Cambodia.
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Multi-methods process evaluation of the SToP (See, Treat, Prevent) trial: a cluster randomised, stepped wedge trial to support healthy skinHealthy skin is important for maintaining overall physical and cultural health and wellbeing. However, remote-living Australian Aboriginal children contend with disproportionally high rates of Streptococcus pyogenes (Strep A) infected impetigo.
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NEARER SCAN (LENO BESIK) evaluation of a task-sharing echocardiographic active case finding programme for rheumatic heart disease in Australia and Timor-LesteRheumatic heart disease (RHD) is underdiagnosed globally resulting in missed treatment opportunities and adverse clinical outcomes. We describe the protocol for a study which aims to co-design, implement and conduct an evaluation of a task-sharing approach to echocardiographic active case finding for early detection and management of RHD in high-risk settings in Australia and Timor-Leste.
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Impaired calcium influx underlies skewed T helper cell differentiation in children with IgE-mediated food allergiesReasons for Th2 skewing in IgE-mediated food allergies remains unclear. Clinical observations suggest impaired T cell activation may drive Th2 responses evidenced by increased atopic manifestations in liver transplant patients on tacrolimus (a calcineurin inhibitor). We aimed to assess differentiation potential, T cell activation and calcium influx of naïve CD4+ T cells in children with IgE-mediated food allergies.
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The Platform Trial In COVID-19 Priming and BOOsting (PICOBOO): The immunogenicity, reactogenicity, and safety of different COVID-19 vaccinations administered as a second boosterPICOBOO is a randomised, adaptive trial evaluating the immunogenicity, reactogenicity, and safety of COVID-19 booster strategies. We report data for second boosters among individuals 50-<70 years old primed with AZD1222 (50-<70y-AZD1222) until Day 84.
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Biologic and Clinical Analysis of Childhood Gamma Delta T-ALL Identifies LMO2/STAG2 Rearrangements as Extremely High RiskAcute lymphoblastic leukemia expressing the gamma delta T-cell receptor (γδ T-ALL) is a poorly understood disease. We studied 200 children with γδ T-ALL from 13 clinical study groups to understand the clinical and genetic features of this disease. We found age and genetic drivers were significantly associated with outcome.