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SMART Work Design: Accelerating the Diagnosis of Rare Diseases in the Western Australian Undiagnosed Diseases ProgramThe accurate and efficient diagnosis of rare diseases, many of which include congenital anomalies, depends largely on the specialists who diagnose them - including their ability to work alongside specialists from other fields and to take full advantage of cutting-edge precision medicine technologies and precision public health approaches.
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High concentrations of middle ear antimicrobial peptides and proteins are associated with detection of middle ear pathogens in children with recurrent acute otitis mediaElevated antimicrobial proteins and peptides and cytokines in middle ear effusion are a marker of inflammation and bacterial persistence
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Disparities between Aboriginal and non-Aboriginal perinatal mortality rates in Western Australia from 1980 to 2015This study aimed to examine the pattern of stillbirth and neonatal mortality rate disparities over time in Western Australia
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Invasive group A Streptococcus disease in Australian children: 2016 to 2018 - a descriptive cohort studyOur aims were to describe the epidemiological distribution of paediatric invasive group A Streptococcus disease in Australia and correlate this with influenza notifications
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The dystroglycan receptor maintains glioma stem cells in the vascular nicheThese findings reveal a central role of the DG receptor, not only as a structural element, but also as a critical factor promoting mesenchymal-like GBM
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Oxidative stress and abnormal bioactive lipids in early cystic fibrosis lung diseaseSeveral lipid biomarkers of early cystic fibrosis lung disease were identified, which point toward potential disease monitoring and therapeutic approaches
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Paternal Attachment in the First Five Years: the Role of Self-compassion, Negative Emotional Symptoms, Parenting Stress, and Parent Self-efficacyFather-child attachment during the first five years of life plays a vital role in child health and wellbeing but remains an under-researched area. Recently, self-compassion has emerged as a mechanism through which parent–child attachment may be optimized via its capacity to promote parental mental health and wellbeing, yet little is known about self-compassion among fathers specifically.
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Updates in infant acute lymphoblastic leukemia and the potential for targeted therapyOutcomes for infants diagnosed under 1 year of age with KMT2A-rearranged acute lymphoblastic leukemia (ALL) have remained stagnant over the past 20 years. Successive treatment protocols have previously focused on intensification of conventional chemotherapy, but increased treatment-related toxicity and chemoresistance have led to a plateau in survival.
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RaScALL: Rapid (Ra) screening (Sc) of RNA-seq data for prognostically significant genomic alterations in acute lymphoblastic leukaemia (ALL)RNA-sequencing (RNA-seq) efforts in acute lymphoblastic leukaemia have identified numerous prognostically significant genomic alterations which can guide diagnostic risk stratification and treatment choices when detected early.
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Immuno-epigenomic analysis identifies attenuated interferon responses in naïve CD4 T cells of adolescents with peanut and multi-food allergyIgE-mediated food allergies have been linked to suboptimal naïve CD4 T (nCD4T) cell activation in infancy, underlined by epigenetic and transcriptomic variation. Similar attenuated nCD4T cell activation in adolescents with food allergy have also been reported, but these are yet to be linked to specific epigenetic or transcriptional changes.