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Elucidating the interaction of CF airway epithelial cells and rhinovirus: Using the host-pathogen relationship to identify future therapeutic strategiesA better understanding of the innate immune responses by CF airway epithelial cells is needed to identify why viral infections are more severe in CF
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Sharing knowledge about immunisation (SKAI): An exploration of parents' communication needs to inform development of a clinical communication support interventionThe Sharing Knowledge About Immunisation project aims to develop effective communication tools to support primary health care providers' consultations with parents
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Investigation of group A Streptococcus immune responses in an endemic setting, with a particular focus on J8We analysed the stimulation of J8 antibodies in response to infection, and the role of existing J8 antibodies in protection against subsequent infection
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Missing Voices: Profile, Extent, and 12-Month Outcomes of Nonfatal Traumatic Brain Injury in Aboriginal and Non-Aboriginal Adults in Western AustraliaThese findings suggest an urgent need for multisectoral primary prevention of traumatic brain injury
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Feasibility Testing and Refinement of a Supportive Educational Intervention for Carers of Patients with High-Grade Glioma — a Pilot StudyThe aim of this pilot study was to test the feasibility and acceptability of a family carer intervention for carers of patients with high-grade glioma
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The role of coping in the association between subclinical psychotic experiences and functioning: A within study replication in two independent adolescent samplesThe within study replication consistently found that coping style mediates subclinical psychotic experiences and psychosocial functioning
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Motor impairments in children: More than just the clumsy childDevelopmental co-ordination disorder is a motor skill disorder that affects an estimated 5-6% of children but lacks recognition and understanding, leading to under-diagnosis
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Clinical experience with SUBA-itraconazole at a tertiary paediatric hospitalItraconazole remains a first-line antifungal agent for certain fungal infections in children, including allergic bronchopulmonary aspergillosis (ABPA) and sporotrichosis, but poor attainment of therapeutic drug levels is frequently observed with available oral formulations. A formulation of 'SUper BioAvailability itraconazole' (SUBA-itraconazole; Lozanoc®) has been developed, with adult studies demonstrating rapid and reliable attainment of therapeutic levels, yet paediatric data are lacking.
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A flexible computational pipeline for research analyses of unsolved clinical exome casesExome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar.
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Reference exome data for a Northern Brazilian populationExome sequencing is widely used in the diagnosis of rare genetic diseases and provides useful variant data for analysis of complex diseases. There is not always adequate population-specific reference data to assist in assigning a diagnostic variant to a specific clinical condition.