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Functional validation of variants of unknown significance using CRISPR gene editing and transcriptomics: A Kleefstra syndrome case studyThere are an estimated > 400 million people living with a rare disease globally, with genetic variants the cause of approximately 80% of cases. Next Generation Sequencing (NGS) rapidly identifies genetic variants however they are often of unknown significance.
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Association between preschooler movement behaviours, family dog ownership, dog play and dog walking: Findings from the PLAYCE studyPhysical inactivity in childhood is a major public health issue. Dog ownership has been widely reported to lead to greater physical activity in adults and school-aged children. We examined if dog ownership and dog-facilitated physical activity were associated with higher physical activity in preschoolers. Secondary analysis of the 'Play Spaces & Environments for Children's Physical Activity' (PLAYCE, 2015-2018) study involving 1366, 2-5-year-olds from 122 long day-care centres in Perth, Australia was conducted.
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Correlates of Help-Seeking Behaviour in Adolescents Who Experience Bullying VictimisationA commonly suggested strategy for addressing bullying is for victims to seek help from a trusted person. Despite this recommendation, there are a group of adolescent victims who choose not to seek help. This study aimed to identify factors associated with not seeking help among adolescents who experienced bullying victimisation.
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Anesthetic considerations in children with asthmaDue to the high prevalence of asthma and general airway reactivity, anesthesiologists frequently encounter children with asthma or asthma-like symptoms. This review focuses on the epidemiology, the underlying pathophysiology, and perioperative management of children with airway reactivity, including controlled and uncontrolled asthma.
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The relationship between intrauterine foetal growth trajectories and blood pressure in young adultsPrevious studies have reported an association between low birthweight and elevated blood pressure (BP) in adulthood, but few have examined the relationship between foetal growth and adult BP.
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B Part of It School Leaver Study: A Repeat Cross-Sectional Study to Assess the Impact of Increasing Coverage With Meningococcal B (4CMenB) Vaccine on Carriage of Neisseria meningitidisRecombinant protein-based vaccines targeting serogroup B meningococci protect against invasive disease but impacts on carriage are uncertain. This study assessed carriage prevalence of disease-associated meningococci in 2018-2020 as the proportion of vaccinated adolescents increased following introduction of a school-based 4CMenB immunization program.
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Outcomes in extremely low birth weight (≤500 g) preterm infants: A Western Australian experienceExtremely preterm infant survival has significantly improved with advanced neonatal care; however outcomes of infants born with birth weight ≤500 g remain poor. We aimed to review outcomes of this cohort in our Institution.
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Pediatric Staphylococcus aureus Bacteremia: Clinical Spectrum and Predictors of Poor OutcomeStaphylococcus aureus is a common cause of bacteremia, yet the epidemiology and predictors of poor outcome remain inadequately defined in childhood. ISAIAH (Invasive Staphylococcus aureus Infections and Hospitalizations in children) is a prospective, cross-sectional study of S. aureus bacteremia in children hospitalized in Australia and New Zealand over 24 months.
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Systematic In Vitro Evaluation of a Library of Approved and Pharmacologically Active Compounds for the Identification of Novel Candidate Drugs for KMT2A-Rearranged LeukemiaPatients whose leukemias harbor a rearrangement of the Mixed Lineage Leukemia (MLL/KMT2A) gene have a poor prognosis, especially when the disease strikes in infants. The poor clinical outcome linked to this aggressive disease and the detrimental treatment side-effects, particularly in children, warrant the urgent development of more effective and cancer-selective therapeutics.
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Cancer therapies inducing DNA damageThe induction of DNA damage has been employed as an anticancer strategy for more than 100years, first starting with the use of radiation to treat stomach cancer followed by the first uses of DNA-damaging chemotherapy to treat childhood leukemia.