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Research

There is a dearth of literature available on the comparative oral health status of those with Rett syndrome (RTT) despite diurnal bruxism being a supportive diagnostic criterion for the disorder. This study was designed to investigate the dental experiences of individuals with RTT in terms of perceived at-home and professional dental care.

Research

Both tumour suppressive and oncogenic functions have been reported for dual-specificity tyrosine phosphorylation-regulated kinase 1A (DYRK1A). Herein, we performed a detailed investigation to delineate the role of DYRK1A in glioblastoma. Our phosphoproteomic and mechanistic studies show that DYRK1A induces degradation of cyclin B by phosphorylating CDC23, which is necessary for the function of the anaphase-promoting complex, a ubiquitin ligase that degrades mitotic proteins.

Research

This paper presents the first causal estimates of the effect of weather on children's time allocation. It exploits exogenous variations in local weather observed during the random diary dates of two nationally representative cohorts of Australian children whose time-use diaries were surveyed biennially over 10 years.

Research

The Australasian guidelines recommend use of the CHA2 DS2 -VA schema to stratify ischaemic stroke risk in patients with non-valvular atrial fibrillation (N-VAF) and determine risk thresholds for recommending oral anticoagulant (OAC) therapy. However, the CHA2 DS2 -VA score has not been validated in a representative Australian population cohort with N-VAF, including in Aboriginal people who are known to have a higher age-adjusted stroke risk than other Australians.

Research

This article considers the role of governance in Indigenous medical education research through the lens of an Australian Aboriginal research project titled Healing Conversations. The Healing Conversations project is developing and testing a targeted educational framework for improved clinical communication between healthcare practitioners and Australian Aboriginal peoples in regional and urban locations. It is proposed that an effective governance approach can support Indigenous and non-Indigenous stakeholders to work together in decision-making structures to enable outcomes that promote and prioritise Indigenous worldviews and values in medical education research.

Research

To assess the safety of live attenuated herpes zoster vaccine live (ZVL) through cumulative analysis of near real-time, participant-based active surveillance from Australia's AusVaxSafety system. ZVL was funded in Australia for adults aged 70 years from November 2016, with a time-limited catch up programme for those up to 79 years. This cohort study monitored safety in the first two programme years through active surveillance at 246 sentinel surveillance immunisation sites.

Research

Citation: Ibilola O, Silva D. Environmental (Perinatal) risk factors of ADHD in a sibling control design study. Open Access Journal of Behavioural

Research

Itraconazole remains a first-line antifungal agent for certain fungal infections in children, including allergic bronchopulmonary aspergillosis (ABPA) and sporotrichosis, but poor attainment of therapeutic drug levels is frequently observed with available oral formulations. A formulation of 'SUper BioAvailability itraconazole' (SUBA-itraconazole; Lozanoc®) has been developed, with adult studies demonstrating rapid and reliable attainment of therapeutic levels, yet paediatric data are lacking.

Research

Exome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar.

Research

Exome sequencing is widely used in the diagnosis of rare genetic diseases and provides useful variant data for analysis of complex diseases. There is not always adequate population-specific reference data to assist in assigning a diagnostic variant to a specific clinical condition.