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CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiencyOver 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.
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Interventions to Improve Child Physical Activity in the Early Childhood Education and Care Setting: An Umbrella ReviewEarly 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.
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Longitudinal audit of assessment and pharmaceutical intervention for cardiovascular risk in the Australasian Diabetes Data NetworkTim Liz Jones Davis MBBS DCH FRACP MD MBBS FRACP PhD Co-head, Diabetes and Obesity Research Co-director of Children’s Diabetes Centre Co-head,
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Secondary Antibiotic Prophylaxis for Latent Rheumatic Heart DiseaseRheumatic 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.
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Linkage of the Australian Childhood Immunisation Register (ACIR) and state-based registers to evaluate and inform Australia’s immunisation programChristopher Hannah Tom Blyth Moore Snelling MBBS (Hons) DCH FRACP FRCPA PhD OAM BSc (Hons) GradDipClinEpi PhD BMBS DTMH GDipClinEpid PhD FRACP Centre
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Quantification of Helicobacter pylori and its oncoproteins in the oral cavity: A cross-sectional studyTo identify Helicobacter pylori and related oncogenic and virulent proteins in patients with gingivitis, periodontitis, oral cancer and gastric cancer.
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Local immunotherapy for sarcomaWe are developing a gel that can be left behind in the wound bed after sarcoma surgery.
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Making FASD History: A multi-site prevention programInvestigators: Elizabeth Connor, James Fitzpatrick, Rebecca Pedruzzi Project partners: Central Australian Aboriginal Congress, Mercy Services,
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The Mental Health Implications of Domestic Violence During COVID-19Citation: Newnham EA, Chen Y, Gibbs L, Dzidic PL, Guragain B, Balsari S, et al. The Mental Health Implications of Domestic Violence During COVID-19.
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Moort Vax Waangkiny: Understanding reasons for routine vaccine uptake among Aboriginal children aged <5 years in Perth (Boorloo) metroAboriginal children aged younger than 5 years in Perth (Boorloo) have lower vaccine uptake compared to non-Aboriginal children.
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Strengths and challenging behaviors in children and adolescents with Prader-Willi syndrome: Two sides to the coinPrader-Willi Syndrome (PWS) is a rare genetic disorder associated with emotional/behavioral disturbances. These difficulties are well documented in the literature, but the positive attributes of these individuals are not described.
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Ngangk Ngabala Ngoonda (Sun Safety)The ‘Ngangk Ngabala Ngoonda (Sun Safety) of Aboriginal young mob of WA’ is a community-led project that aims to identify the sun safety needs and strengthen sun safety knowledge of Aboriginal Children and Young People in Western Australia.
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Anxiety Trajectories in Adolescents and the Impact of Social Support and Peer VictimizationThis paper examines whether adolescents can be reliably categorized into subgroups based on their patterns of anxiety levels over time and whether low levels of social support from parents, peers, and their school, and high levels of peer victimization, predict a pattern of increasing anxiety.
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Optimise+Optimise+ is a research project designed to build on the best parts of LGBTQ+ community-controlled mental health and AOD services across Australia, with the aim of further enhancing service options.
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Preferred health outcome states following treatment for pulmonary exacerbations of cystic fibrosisTreatment for pulmonary exacerbations of cystic fibrosis (CF) can produce a range of positive and negative outcomes. Understanding which of these outcomes are achievable and desirable to people affected by disease is critical to agreeing to goals of therapy and determining endpoints for trials.
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Exacerbation of chronic cigarette-smoke induced lung disease by rhinovirus in miceA significant proportion of chronic obstructive pulmonary disease exacerbations are strongly associated with rhinovirus infection (HRV). In this study, we combined long-term cigarette smoke exposure with HRV infection in a mouse model.
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Paediatric Active Enhanced Diseases Surveillance (PAEDS)PAEDS monitors for key vaccine preventable conditions and severe side effects from vaccine in 5 paediatric hospitals in Australia.
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Parent and Child Engagement in Family-oriented Therapies for Childhood ObesityThis project will be conducted in conjunction with the Perth Childrens Hospital Health Weight Service (PCHHWS) and will involve three phases.
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Evaluation of the Child and Family Assessment and Referral Network (CFARN)Yasmin Sandra Mary Harman-Smith Van Diermen Brushe BA, BHlthSc(Hons), PhD BPsych(Hons), PhD (Public Health) Head, Early Years Systems Evidence; Head