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An investigation of a novel broad autism phenotype: increased facial masculinity among parents of children on the autism spectrumThe broad autism phenotype commonly refers to sub-clinical levels of autistic-like behaviour and cognition presented in biological relatives of autistic people. In a recent study, we reported findings suggesting that the broad autism phenotype may also be expressed in facial morphology, specifically increased facial masculinity.
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A brief history of MECP2 duplication syndrome: 20-years of clinical understandingMECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl-CpG-binding protein 2 (MECP2) gene-a gene in which loss-of-function mutations lead to Rett syndrome (RTT). MDS has an estimated live birth prevalence in males of 1/150,000.
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Childhood Systemic Lupus Erythematosus: Presentation, management and long-term outcomes in an Australian cohortSystemic Lupus Erythematosus (SLE) is a serious autoimmune disease often resulting in major end-organ damage and increased mortality. Currently, no data exists focussing on the presentation, long-term management and progression of SLE in the Australian paediatric population.
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Mapping malaria by sharing spatial information between incidence and prevalence data setsAs 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.
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Healing Right Way: Study protocol for a stepped wedge cluster randomised controlled trial to enhance rehabilitation services and improve quality of life in Aboriginal Australians after brain injuryDespite higher incidence of brain injury among Aboriginal compared with non-Aboriginal Australians, suboptimal engagement exists between rehabilitation services and Aboriginal brain injury survivors. Aboriginal patients often feel culturally insecure in hospital and navigation of services post discharge is complex.
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A simulation study of disaggregation regression for spatial disease mappingDisaggregation regression has become an important tool in spatial disease mapping for making fine-scale predictions of disease risk from aggregated response data.
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Stability of Pentoxifylline Injection: Application to Neonatal/Pediatric Care SettingPentoxifylline (PTX) is administered as 6- or 12-hour intravenous infusions in the treatment of sepsis or necrotizing enterocolitis in neonates; however, there is a paucity of formal stability data for PTX in the end-use solution. We investigated PTX stability in the simulated clinical conditions of neonatal intensive care, where PTX injection is diluted to 5 mg/mL and administered via syringe pump.
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Error traps in pediatric difficult airway managementDifficult airway management in children is associated with significant morbidity. This narrative review on error traps in airway management aims to highlight the common pitfalls and proposes solutions to optimize best practices for pediatric difficult airway management. We have categorized common errors of pediatric difficult airway management into three main error traps.
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Risks and Benefits of UV RadiationWhile UV radiation is a skin carcinogen, this should not obscure the growing evidence that sunlight has significant health benefits, including impacts on cardiovascular and metabolic health.
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Immune checkpoint inhibitor therapy for malignant pleural mesotheliomaMesothelioma is a rare and universally fatal cancer linked to exposure to asbestos. Until recently, standard of care treatment was chemotherapy; a treatment resulting in a minimal survival extension, and not improved upon for almost twenty years. However, the advent of cancer immunotherapy – and in particular the immune checkpoint inhibitor class of drugs - has resulted in recently approved new treatment options, with more currently under investigation.