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Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disordersWe aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder. Clinical and genetic data from affected individuals were collected through Facebook-based family support group, GeneMatcher, and our network of collaborators.
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Influenza epidemiology in patients admitted to sentinel Australian hospitals in 2019: the Influenza Complications Alert Network (FluCAN)This report summarises the epidemiology of hospitalisations with laboratory-confirmed influenza during the 2019 influenza season. The Influenza Complications Alert Network (FluCAN) is a sentinel hospital-based surveillance program that operates at sites in all jurisdictions in Australia.
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Impact of airway and a standardized recruitment maneuver on CT chest imaging quality in a pediatric population: A retrospective reviewWhen performing computerized tomography chest imaging in children, obtaining high quality, motion-free images is important in the accurate diagnosis of underlying pathology. General anesthesia is associated with the development of atelectasis, which can impair accurate diagnosis by obscuring or altering the appearance of the lung parenchyma or airways.
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A randomised controlled trial of a novel tramadol chewable tablet: pharmacokinetics and tolerability in childrenTramadol is a bitter atypical opioid analgesic drug and is prescribed to treat postoperative pain in children. However, in many countries there is no licensed paediatric tramadol formulation available. We have formulated a novel chewable chocolate-based drug delivery system for the administration of tramadol to children.
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Don't Get Lost in Translation: Integrating Developmental and Implementation Sciences to Accelerate Real-World Impact on Children's Development, Health, and WellbeingTranslation of developmental science discoveries is impeded by numerous barriers at different stages of the research-to-practice pipeline. Actualization of the vast potential of the developmental sciences to improve children's health and development in the real world is imperative but has not yet been fully realized.
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Investigating the Implications of CFTR Exon Skipping Using a Cftr Exon 9 Deleted Mouse ModelSeverity and disease progression in people with Cystic Fibrosis is typically dependent on their genotype. One potential therapeutic strategy for people with specific mutations is exon skipping with antisense oligonucleotides. CFTR exon 9 is an in-frame exon and hence the exclusion of this exon would excise only 31 amino acids but not alter the reading frame of the remaining mRNA.
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Stability of benzylpenicillin for continuous intravenous infusions: An isotonic formulation for therapeutic use and a low-dose formulation for clinical trialThe objectives of this study were to develop a stability-indicating high performance liquid chromatography assay for benzylpenicillin in pharmaceutical fluids, and to investigate the stability of (i) isotonic citrate-buffered BPC solutions at the clinically relevant concentration of 30 mg/mL, and (ii) low concentration citrate-buffered BPC intravenous infusions (5–30 μg/mL).
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Maternal and neonatal outcomes of women with gestational diabetes and without specific medical conditions: an Australian population-based study comparing induction of labor with expectant managementTo evaluate maternal birth and neonatal outcomes among women with gestational diabetes mellitus (GDM), but without specific medical conditions and eligible for vaginal birth who underwent induction of labour (IOL) at term compared with those who were expectantly managed.
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Consistency of self-reported and documented historical influenza vaccination status of US healthcare workersHealthcare personnel (HCP) are a priority group for annual influenza vaccination. Few studies have assessed the validity of recall of prior influenza vaccination status among HCP, especially for more than one preceding season.
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Molecular Methodologies for Improved Polymicrobial Sepsis DiagnosisPolymicrobial sepsis is associated with worse patient outcomes than monomicrobial sepsis. Routinely used culture-dependent microbiological diagnostic techniques have low sensitivity, often leading to missed identification of all causative organisms.