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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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A study protocol for community implementation of a new mental health monitoring system spanning early childhood to young adulthoodFindings from longitudinal research, globally, repeatedly emphasise the importance of a taking an early life course approach to mental health promotion; one that invests in the formative years of development, from early childhood to young adulthood, just prior to the transition to parenthood for most. While population monitoring systems have been developed for this period, they are typically designed for use within discrete stages.
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Australian children living with rare diseases: health service use and barriers to accessing careChildren with rare diseases experience challenges at home and school and frequently require multi-disciplinary healthcare. We aimed to determine health service utilization by Australian children with rare diseases and barriers to accessing healthcare.
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Kids Voices, the perioperative experience of emergency surgery from children's perspectives: A qualitative studyThe study aimed to better understand children's emergency perioperative experience, a little researched topic. Current literature shows discrepancies between child and adult perceptions for the same healthcare experience. Acquisition of knowledge from the child's perspective can be utilized to improve perioperative care.
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Bacteriophage: A new therapeutic player to combat neutrophilic inflammation in chronic airway diseasesPersistent respiratory bacterial infections are a clinical burden in several chronic inflammatory airway diseases and are often associated with neutrophil infiltration into the lungs. Following recruitment, dysregulated neutrophil effector functions such as increased granule release and formation of neutrophil extracellular traps (NETs) result in damage to airway tissue, contributing to the progression of lung disease.
Research
Getting to the heart of the matter: a research partnership with Aboriginal women in South and Central AustraliaWithin the vast majority of qualitative health research involving Indigenous populations, Indigenous people have been marginalised from research conceptualisation and conduct. This reflects a lack of regard for Indigenous ways of knowing, being, and doing, has served to perpetuate deficit narratives of Indigenous peoples’ health and wellbeing, and contributes to failure in addressing inequities as a result of ongoing colonisation and institutionalised oppression and racism.
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Arsenic and respiratory diseaseArsenic is the only environmental toxin that has been linked to both malignant and nonmalignant respiratory disease following ingestion, rather than inhalation, making arsenic a unique toxicant to the respiratory system. Chronic exposure to arsenic has been associated with the development of respiratory symptoms, impaired lung function, and chronic lung disease.
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Murru Minya-informing the development of practical recommendations to support ethical conduct in Aboriginal and Torres Strait Islander health research: a protocol for a national mixed-methods studyConducting ethical and high-quality health research is crucial for informing public health policy and service delivery to reduce the high and inequitable burden of disease experienced by Aboriginal and Torres Strait Islander people.