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Study Protocol for a Stepped-Wedge Cluster (Nested) Randomized Controlled Trial of Antenatal Colostrum Expression (ACE) Instruction in First-Time Mothers: The ACE StudyAlthough many mothers initiate breastfeeding, supplementation with human-milk substitutes (formula) during the birth hospitalization is common and has been associated with early breastfeeding cessation. Colostrum hand expressed in the last few weeks before birth, known as antenatal colostrum expression (ACE), can be used instead of human-milk substitutes. However, evidence is lacking on the efficacy of ACE on breastfeeding outcomes and in non-diabetic mothers.
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Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart diseaseGenomic sequencing in congenital heart disease (CHD) patients often discovers novel genetic variants, which are classified as variants of uncertain significance (VUS). Functional analysis of each VUS is required in specialised laboratories, to determine whether the VUS is disease causative or not, leading to lengthy diagnostic delays.
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The psychosocial impact of childhood dementia on children and their parents: a systematic reviewChildhood dementias are a group of rare and ultra-rare paediatric conditions clinically characterised by enduring global decline in central nervous system function, associated with a progressive loss of developmentally acquired skills, quality of life and shortened life expectancy. Traditional research, service development and advocacy efforts have been fragmented due to a focus on individual disorders, or groups classified by specific mechanisms or molecular pathogenesis.
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Skin infections flying under the radarThe Kids Research Institute Australia researchers have confirmed that skin infections in many Aboriginal children across northern Western Australia are going unrecognised.
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CAGE-defined promoter regions of the genes implicated in Rett SyndromeA comprehensive picture of the regulatory regions of the three genes involved in Rett Syndrome
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CAGEd-oPOSSUM: motif enrichment analysis from CAGE-derived TSSsCAGEd-oPOSSUM can identify transcription factors that act as key regulators of genes involved in specific mammalian cell and tissue types
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Autism risk associated with parental age and with increasing difference in age between the parentsIncreases in ASD was not only limited to advancing paternal or maternal age alone but also to differences parental age including younger or older similarly age
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Zika threat leads to Australian-first microcephaly studyWA Researchers have conducted an Australian-first study to determine the prevalence of microcephaly, in preparation of any future outbreak of the Zika virus.
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Reference genotype and exome data from an Australian Aboriginal population for health-based researchThis data set provides a useful reference point for genomic studies on Aboriginal Australians
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General Movement Optimality Score-Revised (GMOS-R) with General Population-Based Percentile RanksTo describe writhing General Movements Assessment (GMA) classification and General Movement Optimality Score-Revised (GMOS-R) profiles in the general population; to explore relationships between GMOS-R scores and GMA classification, age of assessment and infant socio-demographic factors; and to establish the inter-rater reproducibility of writhing age GMA classification and GMOS-R.
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The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical serviceThe Rare and Undiagnosed Diseases Diagnostic Service refers to a genomic diagnostic platform operating within the Genetic Services of Western Australia
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Psychological wellbeing outcomes across genders in childhood and adolescence aged 8–18 years: a population-level perspectiveThis study aimed to examine the difference in levels of psychological wellbeing outcomes of binary and non-binary transgender and cisgender students aged 8–18 years in South Australia using population-level data.
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Functional annotation of the vlinc class of non-coding RNAs using systems biology approachWe show that vlincRNAs genes likely function in cis to activate nearby genes
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Understanding parental decisions to decline or delay infant RSV immunisation, nirsevimab, in Western Australia in 2024In 2024, the government of Western Australia introduced 'nirsevimab', a monoclonal antibody offering protection from respiratory syncytial virus (RSV), for eligible infants. This study explores why parents of infants who were eligible to receive nirsevimab opted to decline or delay the immunisation.
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Systematic chemical and molecular profiling of MLL-rearranged infant acute lymphoblastic leukemia reveals efficacy of romidepsinPresent a valuable resource for drug discovery and have identified ROM as a promising therapeutic for MLL-rearranged iALL
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Evaluating placebo responses to intranasal oxytocin in autism: findings from the placebo lead-in phase of a randomised controlled trialThe placebo effect is established in clinical trials, but for paediatric research, questions remain about how to best manage its influence. Within the autism field, data on these issues is sparse. This is particularly important in the oxytocin field where placebo responses are thought to play an important role. This study reports on data from the single-blind, placebo lead-in phase of a randomised controlled trial to investigate the placebo response and its relationship to treatment response in autistic children.