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The diagnostic odyssey for children living with a rare disease – Caregiver and patient perspectives: A narrative review with recommendationsChildren living with a rare disease often endure a lengthy journey to diagnosis, commonly referred to as a diagnostic odyssey. This journey significantly impacts their physical, mental and financial wellbeing, in addition to that of their families. The diagnostic odyssey is often characterised by anxiety and stress surrounding the uncertainty of the future. This is experienced by the patient as well as by the family.
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Stiffness Mediated-Mechanosensation of Airway Smooth Muscle Cells on Linear Stiffness Gradient HydrogelsIn obstructive airway diseases such as asthma and chronic obstructive pulmonary disease (COPD), the extracellular matrix (ECM) protein amount and composition of the airway smooth muscle (ASM) is often remodelled, likely altering tissue stiffness. The underlying mechanism of how human ASM cell (hASMC) mechanosenses the aberrant microenvironment is not well understood.
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What supports are people with intellectual disability living in group homes provided to access health care? A case studyPeople with intellectual disabilities living in group homes often have complex health needs, are high health service users and need support from their service provider to access health services. In Australia, little is known about the types and amounts of these supports.
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Perspectives on the essential skills of healthcare decision making in children and adolescents with intellectual disabilityInvolvement in healthcare decisions is associated with better health outcomes for patients. For children and adolescents with intellectual disability, parents and healthcare professionals need to balance listening to a child's wishes with the responsibility of keeping them safe.
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qPCR assay optimisation for a clinical study comparing oral health risk in Rett syndromeThis study aimed to validate qPCR assays for specific microbiota, for use on dental plaque samples stored on Whatman FTA cards to compare relative oral health risk in Rett syndrome.
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Risk of otitis media in offspring following maternal prenatal stress exposureThere is limited but consistent evidence that suggests prenatal factors, including maternal stress, may contribute to susceptibility for otitis media. We aimed to determine the effect of multiple life stress events during pregnancy on risk of acute and recurrent otitis media in offspring at three and five years of age.
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Unique architectural features of mammalian mitochondrial protein synthesisMitochondria rely on coordinated expression of their own mitochondrial DNA (mtDNA) with that of the nuclear genome for their biogenesis. The bacterial ancestry of mitochondria has given rise to unique and idiosyncratic features of the mtDNA and its expression machinery that can be specific to different organisms. In animals, the mitochondrial protein synthesis machinery has acquired many new components and mechanisms over evolution.
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Can flash glucose monitoring improve glucose management for Aboriginal and Torres Strait Islander peoples with type 2 diabetes? A protocol for a randomised controlled trialAboriginal and Torres Strait Islander peoples are disproportionately impacted by type 2 diabetes. Continuous glucose monitoring technology (such as Abbott Freestyle Libre 2, previously referred to as Flash Glucose Monitoring) offers real-time glucose monitoring that is convenient and easy to use compared to self-monitoring of blood glucose.
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Molecular analysis of human tick-bitten skin yields signatures associated with distinct spatial and temporal trajectories - A proof-of-concept studyTick-associated diseases present challenges due to tridirectional interactions among host-specific responses, tick toxins and salivary proteins as well as microbes. We aimed to uncover molecular mechanisms in tick-bitten skin samples and contralateral skin samples collected simultaneously from the same participants, using spatial transcriptomics.
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Prolonged Grief Disorder, but Not Death From COVID-19, Elicits Public Stigma: A Vignette-Based ExperimentWe investigated the effects of cause of death (COVID-19 with an underlying medical condition vs. without) and prolonged grief disorder status (PGD present or absent) on participants' reported public stigma towards the bereaved.