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Research

Genetic diagnosis plays a crucial role in rare diseases, particularly with the increasing availability of emerging and accessible treatments. The International Rare Diseases Research Consortium (IRDiRC) has set its primary goal as: "Ensuring that all patients who present with a suspected rare disease receive a diagnosis within one year if their disorder is documented in the medical literature". 

Research

Diabetic nephropathy, vision loss and diabetic retinopathy are frequent comorbidities among individuals with type 2 diabetes (T2D). The Retinopathy in People Currently On Renal Dialysis study sought to examine the epidemiology and risk of vision impairment and among a cohort of Indigenous and non-Indigenous Australians with T2D currently receiving haemodialysis for end-stage renal failure.  

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Compromised neonatal intensive care unit neonates are at risk of acquiring late-onset infections (late-onset sepsis [LOS]). Neonates born with congenital anomalies could have an additional LOS risk. 

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Trans individuals face elevated health risks and socio-environmental challenges, influencing their engagement in health-protective behaviors (e.g. exercise and nutrition). Despite these challenges, there is a significant gap in understanding the specific eating and exercise experiences of Australian trans adults, including barriers to healthy behaviors and healthcare experiences. This study aims to address this gap by exploring these experiences, informing targeted interventions and healthcare practices to improve health outcomes.

Research

Worldwide, tuberculosis (TB) remains the leading cause of death from infectious diseases. Africa is the second most-affected region, accounting for a quarter of the global TB burden, but there is limited evidence whether there is subnational variation of TB prevalence across the continent. Therefore, this study aimed to estimate sub-national and local TB prevalence across Africa.

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Nasal epithelial cells from young adults with a history of very preterm birth show delayed closure following scratch-wounding. Repair correlated with lung function, suggesting epithelial barrier integrity may play a role in preterm-associated lung disease.

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Aboriginal and Torres Strait Islander ways of knowing, being and doing have fostered physical, social, and emotional wellbeing for millenia, forming a foundation of strength and resilience. However, colonisation, systemic violence and discrimination—including the forced removal of Aboriginal and Torres Strait Islander children, which continues today—have disrupted this foundation, leading to compounding cycles of intergenerational and complex trauma.

Research

Septo-optic dysplasia (SOD) is a major cause of congenital hypopituitarism and is known to be associated with overweight and obesity in up to 44% of children. Given the role of the hypothalamus in hormonal regulation, we sought to assess the association of resting energy expenditure (REE), appetite and physical activity with SOD. 

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Self-compassion has emerged as a promising treatment target to promote healthy parent–child relationships, though mostly in maternal samples. The mechanisms through which self-compassion may optimise the father-child relationships are not yet well-established.

Research

Subcutaneous delivery of antibiotics is a practical alternative to IV administration. Meropenem is commonly used to treat infections caused by resistant Gram-negative organisms.