Search
Research
CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiencyOver 400 million people worldwide are living with a rare disease. Next Generation Sequencing identifies potential disease causative genetic variants. However, many are identified as variants of uncertain significance and require functional laboratory validation to determine pathogenicity, and this creates major diagnostic delays.
Research
Sleep Disordered Breathing and Recurrent Tonsillitis Are Associated With Polymicrobial Bacterial Biofilm Infections Suggesting a Role for Anti-Biofilm TherapiesThe underlying pathogenesis of pediatric obstructive sleep disordered breathing (SDB) and recurrent tonsillitis (RT) are poorly understood but need to be elucidated to develop less invasive treatment and prevention strategies.
Research
Patterns of recurrent preterm birth in Western Australia: A 36-year state-wide population-based studyIt is known that a previous preterm birth increases the risk of a subsequent preterm birth, but a limited number of studies have examined this beyond two consecutive pregnancies. This study aimed to assess the risk and patterns of (recurrent) preterm birth up to the fourth pregnancy.
Research
Interventions to Improve Child Physical Activity in the Early Childhood Education and Care Setting: An Umbrella ReviewEarly childhood education and care (ECEC) services are a key setting to support improvements in the physical activity of young children. This umbrella review gathered and synthesised systematic review evidence of the effectiveness of interventions in the ECEC setting on the physical activity levels of children aged 0–6.
Research
The Allure of Big Data to Improve Stroke Outcomes: Review of Current LiteratureTo critically appraise literature on recent advances and methods using "big data" to evaluate stroke outcomes and associated factors.
Research
Trends and burden of diabetes in pregnancy among Aboriginal and non-Aboriginal mothers in Western Australia, 1998-2015Diabetes in pregnancy (DIP), which includes pre-gestational and gestational diabetes, is more prevalent among Aboriginal women. DIP and its adverse neonatal outcomes are associated with diabetes and cardiovascular disease in the offspring.
Research
Gastrostomy feeding in children with severe cerebral palsy in Western AustraliaCitation: Marpole R, Langdon K, Wilson A. Gastrostomy feeding in children with severe cerebral palsy in Western Australia. Acta Paediatr Int J
Research
Modes of transmission and attack rates of group A Streptococcal infection: a protocol for a systematic review and meta-analysisSummarising the current knowledge of Strep A transmission to humans will address gaps in the evidence and inform prevention and control strategies. The objective of this study is to evaluate the modes of transmission and attack rates of group A streptococcal infection in human populations.
Research
Case Report: Neonatal Varicella Acquired From Maternal ZosterThe incidence of neonatal varicella has decreased dramatically since the introduction of the varicella vaccination. Although the varicella zoster virus is often associated with a mild infection, it may cause severe morbidity and mortality, particularly in the neonatal period and immunocompromised hosts. We report a case of neonatal varicella acquired from maternal zoster in a mother on biological immunosuppressive therapy.
Research
COVID-19, children and schools: overlooked and at riskWe have closely followed the international literature about severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) transmission dynamics in children (aged 0–18 years).2 Evidence‐informed discussion about school attendance in the context of COVID‐19 is a high priority and this complex subject requires weighted expert review of the literature to accurately inform policy. As paediatricians and infectious diseases specialists, we wish to highlight important considerations when interpreting the available data.