Reports and Findings
Over 400 million people worldwide are living with a rare disease. Next Generation Sequencing identifies potential disease causative genetic variants. However, many are identified as variants of uncertain significance and require functional laboratory validation to determine pathogenicity, and this creates major diagnostic delays.
Cross-sectional observational study across ten primary schools in Fiji in school children aged 5-14 years.
Globally, China has the third highest number of tuberculosis (TB) cases despite high rates (85.6%) of effective treatment coverage. Identifying risk factors associated with unsuccessful treatment outcomes is an important component of maximising the efficacy of TB control programmes.
This paper is a clinical report of a boy presenting with a kidney cyst. Family history and genetic analysis revealed the family had a mutation in the DICER1...
Young people with neurodevelopmental disorders are overrepresented in the youth justice system and face many disadvantages due to their impairments. The current study investigated what factors predict and contribute to the behavior of youth justice professionals working in the Queensland (QLD) youth justice system, utilizing a behavior change wheel framework.
In this study, we combined human-rhinovirus infection with a clinically relevant mouse model of aero-allergen exposure using house-dust-mite in an attempt to...
Recently, "Technical standards for respiratory oscillometry" was published, which reviewed the physiological basis of oscillometric measures and detailed the technical factors related to equipment and test performance, quality assurance and reporting of results. Here we present a review of the clinical significance and applications of oscillometry.
We aimed to establish the prevalence of RHD in high-risk Indigenous Australian children using these criteria and to compare the findings with a group of...
Many important allergens are not covalently bound to lipid or carbohydrate, but have structures belonging to lipid, glycan and glycolipid-binding families.
The purpose of this study was to investigate whether antecedent hypoglycaemia impairs the glycaemia-raising effect of a 10 s sprint in individuals with type...
We evaluated whether the measurement of serum phosphorylated neurofilament heavy chain (pNF-H) titre is likely to be a valid biomarker of axonal injury in...
Maternal occupational pesticide exposure during pregnancy and/or paternal occupational pesticide exposure around conception have been suggested to increase...
The aim of this study was to evaluate the associations between bone mass in young adults and three body composition measurements: lean body mass, fat mass...
We investigated the types and determinants of noncompliance associated with a protocol for use of polysulphone UVR dosimeters.