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Research

Ellis van Creveld syndrome and Weyers acrofacial dysostosis are two rare genetic diseases affecting skeletal development. They are both ciliopathies, as they are due to malfunction of primary cilia, microtubule-based plasma membrane protrusions that function as cellular antennae and are required for Hedgehog signaling, a key pathway during skeletal morphogenesis.

Research

Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, and other systemic features.

Research

Streptococcus pyogenes, also known as group A streptococcus (StrepA), is a bacterium that causes a range of human diseases, including pharyngitis, impetigo, invasive infections, and post-infection immune sequelae such as rheumatic fever and rheumatic heart disease. StrepA infections cause some of the highest burden of disease and death in mostly young populations in low-resource settings. Despite decades of effort, there is still no licensed StrepA vaccine, which if developed, could be a cost-effective way to reduce the incidence of disease. 

Research

Studies on health insurance coverage often rely on measures self-reported by respondents, but the accuracy of such measures has not been thoroughly validated. This paper is the first to use linked Australian National Health Survey and administrative population tax data to explore the accuracy of self-reported private health insurance (PHI) coverage in survey data.

Research

Children with early-life recurrent otitis media (OM) will often endure pain, sleep disturbances, and other developmental setbacks that impact the surrounding family system. The aim of this study was to investigate the psychological well-being and family functioning of caregivers of children with early-life recurrent OM (rOM).

Research

The Toronto Paediatric Cancer Stage Guidelines are a compendium of staging systems developed to facilitate collection of consistent and comparable data on stage at diagnosis for childhood cancers by cancer registries.

Research

This study aimed to address the acceptance of mHealth applications for a dental screening app that facilitates patient information entry and captures dental photos remotely to assist in caries diagnosis in preschool children in Australia.

Research

Pulmonary bacterial infections present a significant health risk to those with chronic respiratory diseases including cystic fibrosis and chronic-obstructive pulmonary disease. With the emergence of antimicrobial resistance, novel therapeutics are desperately needed to combat the emergence of resistant superbugs.

Research

This review paper explores the role of human taste panels and artificial neural networks (ANNs) in taste-masking paediatric drug formulations. Given the ethical, practical, and regulatory challenges of employing children, young adults (18-40) can serve as suitable substitutes due to the similarity in their taste sensitivity. Taste panellists need not be experts in sensory evaluation so long as a reference product is used during evaluation; however, they should be screened for bitterness taste detection thresholds.

Research

Childhood dementias are a group of rare and ultra-rare paediatric conditions clinically characterised by enduring global decline in central nervous system function, associated with a progressive loss of developmentally acquired skills, quality of life and shortened life expectancy. Traditional research, service development and advocacy efforts have been fragmented due to a focus on individual disorders, or groups classified by specific mechanisms or molecular pathogenesis.