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Research

Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families

We report three babies from two families with a severe lethal form of congenital cutis laxa. All three had redundant and doughy-textured skin and two siblings from one family had facial dysmorphism. Echocardiograms showed thickened and poorly contractile hearts, arterial dilatation and tortuosity. Post-mortem examination in two of the babies further revealed widespread ectasia and tortuosity of medium and large sized arteries, myocardial hypertrophy, rib and skull fractures.

Research

Justice capital: A model for reconciling structural and agentic determinants of desistance

The emerging literature on desistance (and recovery from addictions) has focused on key life-course transitions that can be characterised as the need for jobs (meaningful activities), friends (transitioning to pro-social) and houses (a home free from threat). The term ‘recovery capital’ is used to characterise personal, social and community resources an individual can draw upon to support their recovery, partly bridging agentic (personal) and structural (community) factors.

Research

Interpregnancy intervals and child development at age 5: A population data linkage study

To investigate the associations between interpregnancy intervals (IPIs) and developmental vulnerability in children's first year of full-time school (age 5). A retrospective cohort study using logistic regression. ORs were estimated for associations with IPIs with adjustment for child, parent and community sociodemographic variables.

Research

Autoantibodies and cancer among asbestos-exposed cohorts in Western Australia

Asbestos exposure is associated with many adverse health conditions including malignant mesothelioma and lung cancer as well as production of autoantibodies. Autoantibodies may serve as biomarkers for asbestos exposure in patients with cancer, and autoimmune dysfunction has been linked to increased rates of various cancers. The aim of this study was to examine the hypothesis that autoantibodies are more frequent in asbestos-exposed individuals with either lung cancer or mesothelioma than those without these conditions.

Research

The familial risk of infection-related hospitalization in children: A population-based sibling study

To assess the risk of severe childhood infections within families, we conducted a sibling analysis in a population-based cohort study with genealogical linkage. We investigated the sibling risk of hospitalization with common infections, a marker of severity. We hypothesized that having siblings hospitalized for infection would increase the proband's risk of admission with infection.

Research

Mapping malaria by sharing spatial information between incidence and prevalence data sets

As malaria incidence decreases and more countries move towards elimination, maps of malaria risk in low-prevalence areas are increasingly needed. For low-burden areas, disaggregation regression models have been developed to estimate risk at high spatial resolution from routine surveillance reports aggregated by administrative unit polygons.

Research

Longitudinal Evaluation of the Stability of Hand Function in Rett Syndrome

We 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 fibrosis

Cystic 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

Glycaemic outcomes in Australasian children and adults with Type 1 Diabetes: failure to meet targets across the age spectrum

The goal of therapy in Type 1 diabetes is to achieve optimal glycaemic targets and reduce complications. Robust data representing glycaemic outcomes across the lifespan are lacking in Australasia.

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.