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Allergic diseases are rising worldwide, especially in childhood, and their clinical diversity increasingly exposes the limits of traditional phenotype-based classifications. Genetic susceptibility, environmental exposures, epithelial barrier biology, and immune pathways interact to shape highly variable disease trajectories and treatment responses. In this context, precision medicine is no longer only an aspirational concept, but a practical effort to define meaningful endotypes, identify clinically useful biomarkers, and connect biological insight to prevention and care.
Childhood emotional abuse (CEA) has been linked to response-focused emotion regulation in adulthood. However, the underlying mechanisms remain unexplored. This pre-registered study examined whether shame mediates the association between CEA history and aversive cognitive perseveration (ACP), including brooding rumination, experiential avoidance and emotional non-acceptance, in adulthood.
Neonatal sepsis-induced cardiovascular dysfunction includes impaired myocardial function (which may be systolic and/or diastolic) and vasoregulatory failure (which may lead to vasodilation or vasoconstriction). The haemodynamic response in neonatal sepsis may therefore be hyperdynamic or hypodynamic, and the underlying pathophysiological mechanisms are heterogenous.
The everyday use of plastic products exposes us to plastic-associated chemicals (PACs), which have been associated with risks to human health. We present the results of the Plastic Exposure Reduction Transforms Health Trial, with an observational cohort of 211 Australian participants and a 7-day pilot randomized controlled trial in 60 participants. Intervention groups received combinations of plastic-free kitchenware, low-plastic personal-care products and food sourced from more than 100 producers that minimized all plastic touchpoints from paddock to plate, while the control group received no intervention.
Human milk is a rich source of immunomodulatory factors that influence the development of the infant immune system, including susceptibility to allergic diseases. Among these components, milk antibodies have been extensively studied for their role in protecting against infections; however, their potential contribution to allergy prevention may be equally important. The mechanisms of protection include allergen exclusion, enhanced and targeted antigen presentation, immune modulation via shaping of the infant gut microbiome, and direct regulation of gut immune responses.
MECP2 duplication syndrome (MDS) is an ultrarare, X-linked neurodevelopmental disorder that is poorly understood in terms of its natural history and phenotypic variability. There is limited information on how individuals with MDS acquire, retain or lose fundamental functional skills (gross motor, purposeful hand function and communication) - that of which this study aimed to better characterise in the largest case series to date.
The aim of this study was to identify and prioritise the ten most important unanswered themes in rare disease research in Australia by integrating perspectives of key stakeholders, including people living with rare disease, parents/carers, health professionals, and rare disease community advocates.
Antibiotic exposure in neonatal intensive care units (NICU) is high. This study describes antibiotic use in very preterm infants and examines the association between duration of exposure and outcomes in blood culture negative (CN) infants.
Hereditary pancreatitis causes severe early-onset pain and hospitalisation. In 15 Australian patients undergoing total pancreatectomy and islet auto transplantation (TPIAT), we observed a marked reduction in hospital admissions, inpatient days and emergency visits, complete analgesic cessation by 24 months and durable insulin independence in nearly half of the patients. These findings highlight TPIAT's potential to improve quality of life and reduce healthcare burden. Our programme aims to build evidence to support public funding and ensure equitable access to this procedure.
Monkeypox virus (MPXV) has been linked to vertical transmission, but systematic data are scarce. We aimed to describe the sociodemographic, clinical, and virological characteristics and assess the frequency and determinants of adverse outcomes in pregnant women with MPXV clade I infection.