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Collecting behavioural data across countries during pandemics: Development of the COVID-19 Risk Assessment Tool

Tools that can be used to collect behavioural data during pandemics are needed to inform policy and practice. The objective of this project was to de…

The diagnostic odyssey for children living with a rare disease – Caregiver and patient perspectives: A narrative review with recommendations

Children living with a rare disease often endure a lengthy journey to diagnosis, commonly referred to as a diagnostic odyssey. This journey significa…

Screening Measures of Perinatal Mental Health and Wellbeing in Fathers: A Scoping Review

Accurately screening fathers for perinatal mental health problems requires well-validated screening instruments that assess the expression of paterna…

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 apparen…

Plasma testosterone concentration is correlated with circulating immune cell abundance in transgender young people on gender-affirming hormone treatment

Sex hormones, such as oestrogen and testosterone, display significant immune modulatory properties. This is highly relevant for transgender (trans) p…

Atopy-related immune profiles are subject to genetic influence as evaluated using school-aged twin pairs

The interaction of genetic and environmental contributions to immunological traits and their association with atopic disease remain unclear. Flow cyt…

Validation and Comparison of Pediatric Appendicitis Scores and Management Strategies (Project SPASMS): Protocol for a Prospective Multicenter Observational Study

Abdominal pain is a common reason for children to attend the Emergency Department (ED) with acute appendicitis being the most common surgical cause.…

Pandemic preparedness needs for children with rare diseases and their families: A perspective of COVID-19 experiences

People living with rare diseases had a high risk of negative health outcomes due to COVID-19. Pandemic preparedness will ensure best practice procedu…

‘People don't trust those pieces of paper that are provided’: A qualitative study of cultural planning and outsourced out-of-home care services in Western Australia

Aboriginal and Torres Strait Islander children continue to be removed at high rates from their families by child protection services, placing them at…

Realising the potential impact of artificial intelligence for rare diseases – A framework

Rare diseases (RD) are conditions affecting fewer than 1 in 2000 persons, with over 7000 largely genetic RDs affecting 3.5 %-5.9 % of the global popu…