Search
Research
Longitudinal Evaluation of the Stability of Hand Function in Rett SyndromeWe investigated the longitudinal stability of hand function in Rett syndrome and to analyze further the relationships between stability of hand function and genotype, age, and walking ability. Study design: Longitudinal video data of functional abilities of individuals with genetically confirmed Rett syndrome were collected by families of individuals registered with the Australian Rett Syndrome Database.
Research
Lung inflammation and simulated airway resistance in infants with cystic fibrosisCystic fibrosis (CF) is characterized by small airway disease; but central airways may also be affected. We hypothesized that airway resistance estimated from computational fluid dynamic (CFD) methodology in infants with CF was higher than controls and that early airway inflammation in infants with CF is associated with airway resistance.
Research
Data Resource Profile: The South Australian Well-being and Engagement Collection (WEC)Mental health and well-being during childhood and adolescence have been shown to impact on health, educational attainment and employment in adulthood.1–3 Although health and education systems worldwide have long recognized the importance of promoting student well-being,4–6 population-wide monitoring of well-being remains uncommon.
Research
Spatiotemporal patterns of tuberculosis in Hunan province, ChinaTuberculosis (TB) is the leading cause of death from a bacterial pathogen worldwide. China has the third highest TB burden in the world, with a high reported burden in Hunan Province (amongst others). This study aimed to investigate the spatial distribution of TB and identify socioeconomic, demographic, and environmental drivers in Hunan Province, China. Numbers of reported cases of TB were obtained from the Tuberculosis Control Institute of Hunan Province, China.
Research
Deletion of ERF and CIC causes abnormal skull morphology and global developmental delayThe ETS2 repressor factor (ERF) is a transcription factor in the RAS-MEK-ERK signal transduction cascade that regulates cell proliferation and differentiation, and pathogenic sequence variants in the ERF gene cause variable craniosynostosis inherited in an autosomal dominant pattern. The reported ERF variants are largely loss-of-function, implying haploinsufficiency as a primary disease mechanism; however, ERF gene deletions have not been reported previously. Here we describe three probands with macrocephaly, craniofacial dysmorphology, and global developmental delay.
Research
Systems biology and bile acid signalling in microbiome-host interactions in the cystic fibrosis lungThe study of the respiratory microbiota has revealed that the lungs of healthy and diseased individuals harbour distinct microbial communities. Imbalances in these communities can contribute to the pathogenesis of lung disease. How these imbalances occur and establish is largely unknown. This review is focused on the genetically inherited condition of Cystic Fibrosis.
Research
Disparities between Aboriginal and non-Aboriginal perinatal mortality rates in Western Australia from 1980 to 2015This study aimed to examine the pattern of stillbirth and neonatal mortality rate disparities over time in Western Australia
Research
Infant removals: The need to address the over-representation of Aboriginal infants and community concerns of another ‘stolen generation’The disparity between Aboriginal and non-Aboriginal infant removals needs to be seen as a priority requiring urgent action to prevent further intergenerational trauma
Research
Understanding group A streptococcal pharyngitis and skin infections as causes of rheumatic fever: Protocol for a prospective disease incidence studyThis study will identify the incidence of true Group A Streptococcal pharyngitis and serological responses to Group A Streptococcal GAS skin infections
Research
Powered standing wheelchairs promote independence, health and community involvement in adolescents with Duchenne muscular dystrophyThis study used qualitative methods to explore how adolescents with Duchenne muscular dystrophy used a powered wheelchair standing device in their daily lives