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The clinical, research and advocacy communities for Rett syndrome are striving to achieve clinical trial readiness, including having fit-for-purpose clinical outcome assessments. This study aimed to (1) describe psychometric properties of clinical outcome assessment for Rett syndrome and (2) identify what is needed to ensure that fit-for-purpose clinical outcome assessments are available for clinical trials.
Promoting healthy eating and physical activity in early childhood education and care is recommended within guidelines and supported by health promotion programs; however, implementation is suboptimal. Evidence suggests implementation within the sector varies over time; however, this has not been empirically examined in relation to implementation barriers.
A robust understanding of the cellular mechanisms underlying diseases sets the foundation for the effective design of drugs and other interventions. The wealth of existing single-cell atlases offers the opportunity to uncover high-resolution information on expression patterns across various cell types and
Ensitrelvir, a 3C-like protease inhibitor, received emergency approval in Japan in November 2022 for treating non-hospitalized patients with mild-to-moderate COVID-19. However, confirmation of its real-world clinical effectiveness is limited.
In this review, we provide an overview of food allergy genetics and epigenetics aimed at clinicians and researchers. This includes a brief review of the current understanding of genetic and epigenetic mechanisms, inheritance of food allergy, as well as a discussion of advantages and limitations of the different types of studies in genetic research.
Assisted reproductive technology (ART) pregnancies are at greater risk of birth defects than non-ART pregnancies. Teratogenic medication exposure is a potential cause of birth defects that has not been compared between ART and non-ART pregnancies.
Australian Aboriginal people experience stressors from inequalities across crucial social determinants, including deep and entrenched disadvantage and exclusion. The impact of unaddressed historical issues is pervasive and intergenerational. The disproportionate rates of Aboriginal youth suicide, juvenile detention and imprisonment highlight the inadequacy of existing social and emotional wellbeing programs and services for Aboriginal children and young people.
In an era of expanding indications for iatrogenic immunosuppression, invasive fungal disease (IFD) remains a significant challenge in immunocompromised children, with case fatality rates ranging from 10 to 70%. Understanding of current recommendations and recent evidence is essential to guide optimal IFD management.
Christopher Peter Hannah Blyth Richmond Moore MBBS (Hons) DCH FRACP FRCPA PhD MBBS MRCP(UK) FRACP OAM BSc (Hons) GradDipClinEpi PhD Centre Head,
This study aims to describe the risk factors and trends in birth prevalence of septo-optic dysplasia (SOD) and gastroschisis between 1980 and 2023. This descriptive, population-based study of SOD and gastroschisis used Western Australian Register of Developmental Anomalies data from 1980 to 2023. Birth prevalence was calculated using Midwives Notification System data for all births after 20 weeks gestation.