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Research

ZFTA-RELA (formerly known as c11orf-RELA) fused supratentorial ependymoma has been recognized as a novel entity in the 2016 WHO classification of CNS tumors and further defined in the recent 2021 edition.

Research

Birk-Landau-Perez syndrome is a genetic disorder caused by biallelic pathogenic variants in SLC30A9 presenting with a complex movement disorder, developmental regression, oculomotor abnormalities, and renal impairment. It has previously been reported in 2 families. We describe the clinical phenotype of 8 further individuals from 4 unrelated families with SLC30A9-related disease.

Research

Many people with tuberculosis (TB) rely solely on traditional healthcare services. Integrating traditional healthcare with modern healthcare services can increase access, quality, continuity, consumer satisfaction, and efficiency. However, successful integration of traditional healthcare with modern healthcare services requires stakeholder acceptance.

Research

The gut microbiome plays a significant role in regulating the host’s ability to store fat, which impacts the development of obesity. This observational cohort study recruited obese adult men and women scheduled to undergo sleeve gastrectomy and followed up with them 6 months post-surgery to analyse their microbial taxonomic profiles and associated metabolites in comparison to a healthy control group.

Research

Acute flaccid paralysis (AFP) surveillance continues globally as part of the World Health Organization's goal to eradicate poliomyelitis. The Australian Paediatric Surveillance Unit, Paediatric Active Enhanced Disease Surveillance network, and National Enterovirus Reference Laboratory collaborate in AFP surveillance in Australia, capturing and reviewing cases of AFP for all aetiologies in order to exclude poliovirus. We aimed to describe the AFP epidemiology in childhood over an 11 year period.

Research

The assessment of sleep biomechanics (comprising movement and position during sleep) is of interest in a wide variety of clinical and research settings. However, there is no standard method by which sleep biomechanics are measured. This study aimed to (1) compare the intra- and inter-rater reliability of the current clinical standard, manually coded overnight videography, and (2) compare sleep position recorded using overnight videography to sleep position recorded using the XSENS DOT wearable sensor platform.

Research

Lung transcriptomics studies in asthma have provided valuable information in the whole lung context, however, deciphering the individual contributions of the airway and parenchyma in disease pathogenesis may expedite the development of novel targeted treatment strategies. In this study, we performed transcriptomics on the airway and parenchyma using a house dust mite (HDM)-induced model of experimental asthma that replicates key features of the human disease.

Research

A comparison of parents’ experiences of getting a diagnosis for their child with autism, attention deficit hyperactivity disorder (ADHD) and both diagnoses can inform our understanding of common and unique themes across these neurodevelopmental conditions.

Research

Research has shown differences in how fathers and mothers respond to a child's cancer diagnosis. Previous studies have highlighted that sociocultural norm shape fathers' experiences of their child's cancer diagnosis. Our phenomenological qualitative study aimed to examine the lived experiences of fathers whose children have been diagnosed with cancer and explore the impact of sociocultural gender roles.

Research

Despite their increasing popularity, and Australia's unique regulatory environment, how and why Australian adults use e-cigarettes and their perceptions of their safety, efficacy and regulation have not been extensively reported before. In this study, we screened 2217 adult Australians with the aim of assessing these questions in a sample of current or former e-cigarette users.