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        Research

        CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiency

        Over 400 million people worldwide are living with a rare disease. Next Generation Sequencing identifies potential disease causative genetic variants. However, many are identified as variants of uncertain significance and require functional laboratory validation to determine pathogenicity, and this creates major diagnostic delays. ...

        Research

        Sleep Disordered Breathing and Recurrent Tonsillitis Are Associated With Polymicrobial Bacterial Biofilm Infections Suggesting a Role for Anti-Biofilm Therapies

        The underlying pathogenesis of pediatric obstructive sleep disordered breathing (SDB) and recurrent tonsillitis (RT) are poorly understood but need to be elucidated to develop less invasive treatment and prevention strategies. ...

        Research

        Secondary Antibiotic Prophylaxis for Latent Rheumatic Heart Disease

        Rheumatic heart disease affects more than 40.5 million people worldwide and results in 306,000 deaths annually. Echocardiographic screening detects rheumatic heart disease at an early, latent stage. Whether secondary antibiotic prophylaxis is effective in preventing progression of latent rheumatic heart disease is unknown. ...

        Research

        Patterns of recurrent preterm birth in Western Australia: A 36-year state-wide population-based study

        It is known that a previous preterm birth increases the risk of a subsequent preterm birth, but a limited number of studies have examined this beyond two consecutive pregnancies. This study aimed to assess the risk and patterns of (recurrent) preterm birth up to the fourth pregnancy. ...

        Research

        Interventions to Improve Child Physical Activity in the Early Childhood Education and Care Setting: An Umbrella Review

        Early childhood education and care (ECEC) services are a key setting to support improvements in the physical activity of young children. This umbrella review gathered and synthesised systematic review evidence of the effectiveness of interventions in the ECEC setting on the physical activity levels of children aged 0–6. ...

        Research

        Longitudinal audit of assessment and pharmaceutical intervention for cardiovascular risk in the Australasian Diabetes Data Network

        Tim Liz Jones Davis TW EA MBBS DCH FRACP MD MBBS FRACP PhD Co-head, Diabetes and Obesity Research Head, Chronic & Severe Diseases Research Focus Area ...

        Research

        Trends and burden of diabetes in pregnancy among Aboriginal and non-Aboriginal mothers in Western Australia, 1998-2015

        Diabetes in pregnancy (DIP), which includes pre-gestational and gestational diabetes, is more prevalent among Aboriginal women. DIP and its adverse neonatal outcomes are associated with diabetes and cardiovascular disease in the offspring. ...

        Research

        Quantification of Helicobacter pylori and its oncoproteins in the oral cavity: A cross-sectional study

        To identify Helicobacter pylori and related oncogenic and virulent proteins in patients with gingivitis, periodontitis, oral cancer and gastric cancer. ...

        Research

        Gastrostomy feeding in children with severe cerebral palsy in Western Australia

        Citation: Marpole R, Langdon K, Wilson A. Gastrostomy feeding in children with severe cerebral palsy in Western Australia. Acta Paediatr Int J ...

        Research

        Urinary tract infections in children: building a causal model-based decision support tool for diagnosis with domain knowledge and prospective data

        Diagnosing urinary tract infections (UTIs) in children in the emergency department (ED) is challenging due to the variable clinical presentations and difficulties in obtaining a urine sample free from contamination. ...

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