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Research
Maternal Vaccination to Prevent Adverse Pregnancy Outcomes: An Underutilized Molecular Immunological Intervention?Adverse pregnancy outcomes including maternal mortality, stillbirth, preterm birth, intrauterine growth restriction cause millions of deaths each year. More effective interventions are urgently needed. Maternal immunization could be one such intervention protecting the mother and newborn from infection through its pathogen-specific effects.
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EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMOEllis 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.
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Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanismsCornelia 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.
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High-flow nasal oxygen for children's airway surgery to reduce hypoxaemic events: a randomised controlled trialTubeless upper airway surgery in children is a complex procedure in which surgeons and anaesthetists share the same operating field. These procedures are often interrupted for rescue oxygen therapy.
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Erdosteine in children and adults with bronchiectasis (BETTER trial): study protocol for a multicentre, double-blind, randomised controlled trialBronchiectasis is a worldwide chronic lung disorder where exacerbations are common. It affects people of all ages, but especially Indigenous populations in high-income nations. Despite being a major contributor to chronic lung disease, there are no licensed therapies for bronchiectasis and there remain relatively few randomised controlled trials (RCTs) conducted in children and adults.
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Patient preferences for prophylactic regimens requiring regular injections in children and adolescents: A systematic review and thematic analysisAt present, limited literature exists exploring patient preferences for prophylactic treatment of acute rheumatic fever and rheumatic heart disease. Given low treatment completion rates to this treatment in Australia, where the burden of disease predominantly affects Aboriginal and Torres Strait Islander people, an improved understanding of factors driving patient preference is required to improve outcomes.
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Recombinational exchange of M-fibril and T-pilus genes generates extensive cell surface diversity in the global group A Streptococcus populationAmong genes present in all group A streptococci (GAS), those encoding M-fibril and T-pilus proteins display the highest levels of sequence diversity, giving rise to the two primary serological typing schemes historically used to define strain. A new genotyping scheme for the pilin adhesin and backbone genes is developed and, when combined with emm typing, provides an account of the global GAS strain population.
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Lung structural and functional impairments in young children with cystic fibrosis diagnosed following newborn screening – A nationwide observational studyNon-invasive and sensitive clinical endpoints are needed to monitor onset and progression of early lung disease in children with cystic fibrosis (CF). We compared lung clearance index (LCI), FEV1, functional and structural lung magnetic resonance imaging (MRI) outcomes in Swiss children with CF diagnosed following newborn screening.
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Barriers and facilitators to mental health treatment access and engagement for LGBTQA+ people with psychosis: a scoping review protocolThe prevalence of psychosis has been shown to be disproportionately high amongst sexual and gender minority individuals. However, there is currently little consideration of the unique needs of this population in mental health treatment, with LGBTQA+ individuals facing barriers in accessing timely and non-stigmatising support for psychotic experiences.
Research
Strategies for coping and dealing with lateral violence among Aboriginal people living in south-east AustraliaLateral violence, a group of behaviours directed towards people of the same group, is considered endemic among Aboriginal people. Behaviours include bullying, gossiping, isolation or exclusion of certain group members, and challenges to one’s Aboriginal identity. Lateral violence impacts all aspects of one’s life. Due to its pervasiveness, this qualitative study investigated strategies employed by Aboriginal people to deal with lateral violence.