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X-linked hypophosphatemia (XLH) is a rare, X-linked dominant condition with a high burden of both physical and psychosocial disease. This study aimed to describe the experience and burden of disease for children and adults living with XLH in Australia by inviting affected individuals and their carers to complete an online questionnaire. Of the 46 responses, half were completed by a person with XLH, and half by carers. Thirty percent were male, 33% were aged less than 18 yr.
Citation: Junaid M, Downs J, Groza T, Lassmann T, Baker S, et al. The United Nations convention on rare diseases—A framework for research
Type 1 interferons (T1IFNs) are typically expressed in low concentrations under homeostatic conditions, but upon pathogenic insult or perturbation of the pathway, these critical immune signaling molecules can become either protectors from or drivers of pathology. While essential for initiating antiviral defense and modulating inflammation, dysregulation of T1IFN signaling can contribute to immunopathology, making it and its associated pathways prime targets for immune evasion and disruption by pathogens.
This study examines the enablers and barriers to accessing primary health care services from the perspective of Aboriginal and Torres Strait Islander people aged 15-24 years in urban southeast Queensland.
The primary objective was to determine whether a behaviour change intervention delivered to hospital staff would (1) improve the proportion of Aboriginal and/or Torres Strait Islander (Aboriginal) babies being registered and (2) reduce hospital admissions and emergency presentations for babies <6 months old. The secondary objective was an observational analysis to determine factors that might influence the proportion of registered Aboriginal births in Western Australia.
Acute rheumatic fever is a preventable condition that can lead to chronic illness and early death. Standard prevention with 4-weekly intramuscular (IM) benzathine penicillin G (BPG) injections for ≥10 years may be associated with poor adherence. High-dose 10-weekly subcutaneous penicillin injections (SCIP) may improve adherence by reducing injection frequency.
To explore trends in the receipt of commonly prescribed medications (beyond insulin) in people with type 1 diabetes in Australia, including polypharmacy, and to investigate socioeconomic disparities across these trends.
Effective social skills are essential for functional social support, help-seeking, and resource access. Digital social skills training plays a key role in empowering individuals to develop social competence, improve access to various support and resources, and enhance locus of control through dynamic media.
The literature is replete with multi-dimensional self-report assessments of trust. It is not clear whether these dimensions are statistically distinguishable across institutional and interpersonal contexts, respectively.
The neonatal skin is central to early survival and immune development. Far from being a passive mechanical barrier, it integrates physical, chemical, and microbial defences that together protect the infant in the immediate postnatal period. In preterm infants, structural immaturity, reduced antimicrobial capacity, and altered microbial colonisation confer heightened vulnerability to infection and inflammation.