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Research

Rett Syndrome Behaviour Questionnaire: Variability of Scores and Related Factors

Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting predominantly females and associated with variants in the MECP2 gene. Recent success in clinical trials have resulted in an expanded use of the Rett Syndrome Behaviour Questionnaire (RSBQ) for clinical and research purposes.

Research

Preclinical Assessment of Dactinomycin in KMT2A-Rearranged Infant Acute Lymphoblastic Leukemia

Infants with KMT2A-rearranged B-cell acute lymphoblastic leukemia (ALL) have high rates of relapse and poor survival compared with children. Few new therapies have been identified over the past twenty years. The aim of this study was to identify existing anti-cancer agents that have the potential to be repurposed for the treatment of infant ALL.

Research

Polyamine depletion limits progression of acute leukaemia

Cancer cells are addicted to polyamines, polycations essential for cellular function. While dual targeting of cellular polyamine biosynthesis and polyamine uptake is under clinical investigation in solid cancers, preclinical and clinical studies into its potential in haematological malignancies are lacking. Here we investigated the preclinical efficacy of polyamine depletion in acute leukaemia.

Research

Experiences of exercise services for individuals with severe mental illness: A qualitative approach

Regular exercise can be beneficial for people living with a severe mental illness. By better understanding the perspectives and challenges of adults with severe mental illness who are engaged in exercise, we can enhance the design and implementation of exercise programs to better support their mental health and recovery.

Research

Proposed Core Outcomes After Neonatal Sepsis: A Consensus Statement

Sepsis is one of the leading causes of neonatal mortality. There is heterogeneity in the outcomes measured and reported in studies of neonatal sepsis. To address this challenge, a core outcome set (COS) for research on neonatal sepsis was needed.

Research

Maternal concentrations of perfluoroalkyl sulfonates and alterations in white matter microstructure in the developing brains of young children

Maternal exposure to per- and polyfluoroalkyl substances (PFAS) has been linked to child neurodevelopmental difficulties. Neuroimaging research has linked these neurodevelopmental difficulties to white matter microstructure alterations, but the effects of PFAS on children's white matter microstructure remains unclear.

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Pre-natal, clonal origin of t(1;11)(p32;q23) acute lymphoblastic leukemia in monozygotic twins

Investigation of this rare mixed lineage leukemia cytogenetic abnormality aims to provide further evidence of the genetic changes that underpin this leukemia.

Research

The future of acute rheumatic fever and rheumatic heart disease in Australia

Globally, ARF and RHD cause more than a quarter of a million deaths and substantial disability each year.

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Social gradients in the health of indigenous australians

We begin to bridge this knowledge gap by assessing evidence on social gradients in indigenous health in Australia.

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Are autistic traits in the general population stable across development?

There is accumulating evidence that autistic traits (AT) are on a continuum in the general population.