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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

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

The 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

Conventional vaccine design has been based on trial-and-error approaches, which have been generally successful. However, there have been some major failures in vaccine development and we still do not have highly effective licensed vaccines for tuberculosis, HIV, respiratory syncytial virus, and other major infections of global significance. Approaches at rational vaccine design have been limited by our understanding of the immune response to vaccination at the molecular level. Tools now exist to undertake in-depth analysis using systems biology approaches, but to be fully realized, studies are required in humans with intensive blood and tissue sampling.

Research

Maternal immunization with pneumococcal conjugate vaccine (PCV) may protect young infants in high-risk settings against the high risk of pneumococcal infections in early life. The aim of this study was to determine the safety and immunogenicity of 13-valent PCV (PCV13) in healthy women of childbearing age in PNG.

Research

Higher dietary fiber intakes during pregnancy may have the potential health benefits of increasing gut microbiome diversity, lowering the risk of glucose intolerance and pre-eclampsia, achieving appropriate gestational weight gain, and preventing constipation. In this observational cohort study, we have assessed the dietary fiber intakes of 804 women in late pregnancy, using a semi-quantitative food frequency questionnaire (SQ-FFQ). Overall, the median (interquartile range) dietary fiber intake was 24.1 (19.0-29.7) grams per day (g/day). Only 237/804 (29.5%) women met the recommended Adequate Intake (AI) of dietary fiber during pregnancy of 28 g/day.

Research

The prevention of suicide and suicide-related behaviour are key policy priorities in Australia and internationally. The World Health Organization has recommended that member states develop self-harm surveillance systems as part of their suicide prevention efforts. This is also a priority under Australia's Fifth National Mental Health and Suicide Prevention Plan. The aim of this paper is to describe the development of a state-based self-harm monitoring system in Victoria, Australia. In this system, data on all self-harm presentations are collected from eight hospital emergency departments in Victoria. A natural language processing classifier that uses machine learning to identify episodes of self-harm is currently being developed.