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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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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.
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COVID-19 implications for pediatric anesthesia: Lessons learnt and how to prepare for the next pandemicCOVID-19 is mainly considered an “adult pandemic,” but it also has strong implications for children and consequently for pediatric anesthesia. Despite the lethality of SARS-CoV-2 infection being directly correlated with age, children have equally experienced the negative impacts of this pandemic.
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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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Women with type 1 diabetes exhibit a progressive increase in gut Saccharomyces cerevisiae in pregnancy associated with evidence of gut inflammationStudies of the gut microbiome have focused on its bacterial composition. We aimed to characterize the gut fungal microbiome (mycobiome) across pregnancy in women with and without type 1 diabetes.
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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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Modeling COVID-19 disease processes by remote elicitation of causal Bayesian networks from medical expertsCOVID-19 is a new multi-organ disease causing considerable worldwide morbidity and mortality. While many recognized pathophysiological mechanisms are involved, their exact causal relationships remain opaque. Better understanding is needed for predicting their progression, targeting therapeutic approaches, and improving patient outcomes. While many mathematical causal models describe COVID-19 epidemiology, none have described its pathophysiology.
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Continuity of temperament subgroup classifications from infancy to toddlerhood in the context of early autism traitsOur previous cross-sectional investigation (Chetcuti et al., 2020) showed that infants with autism traits could be divided into distinct subgroups based on temperament. This longitudinal study builds on this existing work by exploring the continuity of temperament subgroup classifications and their associations with behavioral/clinical phenotypic features from infancy to toddlerhood.
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Psychological Flow Scale (PFS): Development and Preliminary Validation of a New Flow Instrument that Measures the Core Experience of Flow to Reflect Recent Conceptual AdvancementsIn this study, we sought to develop—and provide preliminary validity evidence for scores derived from—a new Psychological Flow Scale (PFS). We propose a parsimonious model of three core dimensions of flow, reflecting the findings from a recent scoping review that synthesised flow research across scientific disciplines.