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A Novel Missense Mutation Affecting the N-terminal Domain of SAP Protein in X-linked Lymphoproliferative DiseaseWe have revealed a novel SH2D1A gene mutation in a patient with XLP resulting in fulminant refractory EBV-driven HLH, which is a recognized severe complication
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Standardization of Spirometry 2019 Update. An Official American Thoracic Society and European Respiratory Society Technical StatementStandards and consensus recommendations are presented for manufacturers, clinicians, operators, and researchers
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The impact of pre-pregnancy body mass index and gestational weight gain on placental abruption risk: a systematic review and meta-analysisMothers that are underweight prior to or in early pregnancy are at a moderately increased risk of placental abruption
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Inflammatory bowel diseases: interrelationships between dietary vitamin D, exposure to UV radiation and the fecal microbiomeThis review explores the interaction of vitamin D, and ultraviolet radiation, with the intestinal innate and adaptive immune systems
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Family history of cancer and the risk of childhood brain tumors: a pooled analysis of the ESCALE and ESTELLE studies (SFCE)Our findings support the hypothesis of a familial susceptibility of childhood brain tumors, not due to being a known neurofibromatosis carrier
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Use of remote monitoring with continuous glucose monitoring in young children with Type 1 diabetes: the parents’ perspectiveParents of primary school children reported that using remote monitoring and continuous glucose monitoring was a mostly beneficial experience
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The AuTOMATIC trial: a study protocol for a multi-arm Bayesian adaptive randomised controlled trial of text messaging to improve childhood immunisation coverageWhile most Australian children are vaccinated, delays in vaccination can put them at risk from preventable infections. Widespread mobile phone ownership in Australia could allow automated short message service (SMS) reminders to be used as a low-cost strategy to effectively 'nudge' parents towards vaccinating their children on time.
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The use of language in autism researchThe past three decades have seen a major shift in our understanding of the strong links between autism and identity. These developments have called for careful consideration of the language used to describe autism.
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Diabetic Ketoacidosis at Onset of Type 1 Diabetes and Long-term HbA1c in 7,961 Children and Young Adults in the Australasian Diabetes Data NetworkThe relationship between diabetic ketoacidosis (DKA) at diagnosis of type 1 diabetes and long-term glycemic control varies between studies. We aimed, firstly, to characterize the association of DKA and its severity with long-term HbA1c in a large contemporary cohort, and secondly, to identify other independent determinants of long-term HbA1c.
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Type I interferon subtypes differentially activate the anti-leukaemic function of natural killer cellsNatural killer (NK) cells have an intrinsic ability to detect and eliminate leukaemic cells. Cellular therapies using cytokine-activated NK cells have emerged as promising treatments for patients with advanced leukaemia. However, not all patients respond to current NK cell therapies, and thus improvements in efficacy are required.