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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.
To investigate the follow-up and outcomes of HIV-exposed infants in a setting of low HIV prevalence. This was a multicenter, retrospective study of live-born infants of women known to be living with HIV, at 9 tertiary pediatric centers in Australia and New Zealand from 2009-2025. Antenatal, perinatal, and postnatal data, and outcomes at clinic visits to 18 months of age were collected, including co-morbidities, development, and HIV results.
Acute rheumatic fever is an immune-mediated condition triggered by Streptococcus pyogenes sore throat and possibly skin infection, with a substantial burden in resource-limited settings. Clinical decision rules (CDRs) are commonly used to guide antibiotic treatment of sore throat based on signs and symptoms, but their diagnostic accuracy varies by study and setting. This work aimed to assess the accuracy of multiple CDRs in Fiji to diagnose S. pyogenes sore throat.
Convalscent plasma (CP) was identified as a potential therapy for COVID-19 available early in the pandemic.
Dynamic molecular changes in early life follow a robust ontogeny as the infant immune system adapts to the demands of its new environment. Studies of plasma immunomodulatory cytokines and chemokines have previously demonstrated ontogenetic patterns of immune development across the first week of life. However, how plasma cytokine and chemokines concentrations evolve over the first 4 months of life remains unknown.
Serosurveys are considered as a valuable tool in estimating population immunity and infection rates but recruitment of children to provide paediatric estimates can be challenging. A novel approach of sampling children undergoing anaesthesia was utilised for a SARS-CoV-2 serosurvey in Australian children and we explore the reasons for participation, feedback on the approach and importance of research into Coronavirus Diseases 2019 (COVID-19).
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.
Meta-analyses and single-site studies have established that children are less infectious than adults within a household when positive for ancestral SARS-CoV-2. In addition, children appear less susceptible to infection when exposed to ancestral SARS-CoV-2 within a household. The emergence of SARS-CoV-2 variants of concern (VOC) has been associated with an increased number of paediatric infections worldwide.
The prevalence of scar formation following Bacille Calmette-Guérin (BCG) vaccination varies globally. The beneficial off-target effects of BCG are proposed to be stronger amongst children who develop a BCG scar. Within an international randomised trial ('BCG vaccination to reduce the impact of coronavirus disease 2019 (COVID-19) in healthcare workers'; BRACE Trial), this nested prospective cohort study assessed the prevalence of and factors influencing scar formation, as well as participant perception of BCG scarring 12 months following vaccination.
COVID-19 is a new multi-organ disease causing considerable worldwide morbidity and mortality. While many recognized pathophysiological mechanisms are involved, their exact causal relationships remain opaque. Better understanding is needed for predicting their progression, targeting therapeutic approaches, and improving patient outcomes. While many mathematical causal models describe COVID-19 epidemiology, none have described its pathophysiology.