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Research

MECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl-CpG-binding protein 2 (MECP2) gene-a gene in which loss-of-function mutations lead to Rett syndrome (RTT). MDS has an estimated live birth prevalence in males of 1/150,000.

Research

The broad autism phenotype commonly refers to sub-clinical levels of autistic-like behaviour and cognition presented in biological relatives of autistic people. In a recent study, we reported findings suggesting that the broad autism phenotype may also be expressed in facial morphology, specifically increased facial masculinity.

Research

In this paper, we aim to contribute to the understanding of the multidimensional nature of school readiness. In a sample of over 4,000 Australian children in their first year of school, we used latent class analysis to examine patterns of school readiness based on child, family, school and community characteristics, and examine the relationship between these patterns of school readiness and subsequent outcomes (reading comprehension, school absence and emotional and behavioural difficulties).

Research

Real-time continuous glucose monitoring allows patients with diabetes to adjust insulin dosing, potentially improving glucose control. This study aimed to compare the long-term cost-effectiveness of the Dexcom G6 rt-CGM device versus self-monitoring of blood glucose and flash glucose monitoring in Australia in people with type 1 diabetes.

Research

Suicide clusters involve an excessive number of suicides, suicide attempts, or both, that occur close in space or time or involve social links between cluster members. Although suicide clusters are rare, evidence documenting the implementation of suicide cluster response activities in communities is required yet remains limited.

Research

The airway smooth muscle (ASM) layer thickens during development. Identifying the mechanism(s) for normal structural maturation of the ASM reveals pathways susceptible to disease processes. This study characterized thickening of the ASM layer from foetal life to childhood and elucidated the underlying mechanism in terms of hypertrophy, hyperplasia and extracellular matrix (ECM) deposition.

Research

Mucus hyperconcentration in cystic fibrosis (CF) lung disease is marked by increases in both mucin and DNA concentration. Additionally, it has been shown that half of the mucins present in bronchial alveolar lavage fluid from preschool-aged CF patients are present in as non-swellable mucus flakes.

Research

The lack of a consensus definition of neonatal sepsis and a core outcome set proves a substantial impediment to research that influences policy and practice relevant to key stakeholders, patients and parents.

Research

Rheumatic heart disease (RHD) persists in low-middle-income countries and in high-income countries where there are health inequities. RHD in pregnancy (RHD-P) is associated with poorer maternal and perinatal outcomes. Our study examines models of care for women with RHD-P from the perspectives of health care providers.

Research

RHD in pregnancy (RHD-P) is associated with an increased burden of maternal and perinatal morbidity and mortality. A sequellae of rheumatic fever resulting in heart valve damage if untreated, RHD is twice as common in women. In providing an historical overview, this commentary provides context for prevention and treatment in the 21 st century. Four underlying themes inform much of the literature on RHD-P: its association with inequities; often-complex care requirements; demands for integrated care models, and a life-course approach.