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A brief history of MECP2 duplication syndrome: 20-years of clinical understandingMECP2 duplication syndrome (MDS) is a rare, X-linked, neurodevelopmental disorder caused by a duplication of the methyl-CpG-binding protein 2 (MECP2) gene-a gene in which loss-of-function mutations lead to Rett syndrome (RTT). MDS has an estimated live birth prevalence in males of 1/150,000.
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Safety evaluation of closed loop system during hypoglyaemic stimuliThe purpose of this study is to evaluate the safety of new system called the Medtronic MinimedTM 670G that has been designed for long term outpatient use.
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Causes and Clinical Features of Childhood Encephalitis: A Multicenter, Prospective Cohort StudyEpidemic viral infections predominated as causes of childhood encephalitis in Australia. The leading causes include vaccine-preventable diseases
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Comparative Postmarket Safety Profile of Adjuvanted and High-Dose Influenza Vaccines in Individuals 65 Years or OlderThe findings of this postmarketing assessment of the safety of 2 new enhanced influenza vaccines support confidence in ongoing vaccine use
The Rio Tinto Children’s Diabetes Centre acknowledges the importance of those living with type 1 diabetes (T1D), those that care for them and the type 1 diabetes community (T1D community) in sharing your lived-experience.
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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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tesG expression as a potential clinical biomarker for chronic Pseudomonas aeruginosa pulmonary biofilm infectionsPseudomonas aeruginosa infections in the lungs affect millions of children and adults worldwide. To our knowledge, no clinically validated prognostic biomarkers for chronic pulmonary P. aeruginosa infections exist. Therefore, this study aims to identify potential prognostic markers for chronic P. aeruginosa biofilm lung infections.
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Neurodivergence, intersectionality, and eating disorders: a lived experience-led narrative reviewAutistic people and those with attention deficit hyperactivity disorder are at a high risk of developing an eating disorder. While there is limited evidence on the relationship between other forms of neurodivergence and eating disorders, research suggests associations between giftedness, intellectual disability, obsessive-compulsive disorder, psychosis, Tourette's syndrome, and disordered eating.
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Vitamin D deficiency at melanoma diagnosis is associated with higher Breslow thicknessBackground: Epidemiological evidence shows that people with thicker, or higher stage, melanomas have lower vitamin D status compared to those with thinner...
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Prevention - what is the most promising approach?This paper is an editorial comment by Professor Patrick Holt on the potential for developing early intervention strategies in children with allergies and asthma