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Tonsils at Telethon: developing a standardised collection of tonsil photographs for group A streptococcal (GAS) researchGroup A streptococcus (GAS) infections, such as pharyngitis and impetigo, can lead to rheumatic fever and rheumatic heart disease (RHD). Australian Aboriginal and Torres Strait Islander populations experience high rates of RHD and GAS skin infection, yet rates of GAS pharyngitis are unclear.
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Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndromeIn 2014, germline signal transducer and activator of transcription (STAT) 3 gain-of-function (GOF) mutations were first described to cause a novel multisystem disease of early-onset lymphoproliferation and autoimmunity.
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Experience of gastrostomy using a quality care framework: The example of rett syndromeGastrostomy assisted the management of feeding difficulties and poor weight gain, and was acceptable to families
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Confirmation of childhood acute lymphoblastic leukemia Variants, ARID5B and IKZF1, and interaction with parental environmental exposuresThe polygenic nature of childhood ALL predisposition together with the timing of environmental triggers may hold vital clues for disease etiology.
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The trajectories of sleep disturbances in Rett syndromeThis paper demonstrated that the evolution of sleep problems differed between subgroups of girls and women with Rett syndrome, in part explained by age and...
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Clinical and demographic risk factors associated with mortality during early adulthood in a population-based cohort of childhood-onset Type 1 diabetesThis paper reports calculated standardized mortality ratios in patients with Type 1 diabetes, and assesses the association between poor management of...
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Modelling the seasonal epidemics of respiratory syncytial virus in young childrenThis paper describes a mathematical model used to predict when an epidemic of respiratory syncytial virus (RSV) will occur so that preventive measures, such...
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The western dietary pattern is prospectively associated with nonalcoholic fatty liver disease in adolescenceIn centrally obese adolescents with NAFLD, a healthy dietary pattern may be protective, whereas a Western dietary pattern may increase the risk.
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Cancer incidence and mortality among underground and surface goldminers in Western AustraliaOverall cancer mortality and incidence was higher among Western Australian goldminers compared with the general male population, particularly for underground...
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Genetic Variants Associated with Increased Risk of Malignant Pleural Mesothelioma: A Genome-Wide Association StudyAsbestos exposure is the main risk factor for malignant pleural mesothelioma (MPM), a rare aggressive tumor.