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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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Consensus guidelines for antifungal prophylaxis in haematological malignancy and haemopoietic stem cell transplantation, 2021Antifungal prophylaxis can reduce morbidity and mortality from invasive fungal disease (IFD). However, its use needs to be optimised and appropriately targeted to patients at highest risk to derive the most benefit. In addition to established risks for IFD, considerable recent progress in the treatment of malignancies has resulted in the development of new 'at-risk' groups.
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Pertussis immunisation in infancy and atopic outcomes: A protocol for a population-based cohort study using linked administrative dataThe burden of IgE-mediated food allergy in Australian born children is reported to be among the highest globally. This illness shares risk factors and frequently coexists with asthma, one of the most common noncommunicable diseases of childhood.
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Interrupted time-series analysis showed unintended consequences of non-pharmaceutical interventions on paediatric hospital admissionsCOVID-19-associated non-pharmaceutical interventions (NPI) have disrupted respiratory viral transmission. We quantified the changes in paediatric hospital admissions in 2020 from five different NPI phases in Western Australia for acute lower respiratory infections (ALRI) in children in the context of all-cause admissions.
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Risk assessment and optimization strategies to reduce perioperative respiratory adverse events in Pediatric Anesthesia—Part 2: Anesthesia-related risk and treatment optionsPerioperative respiratory adverse events are the most common cause of critical events in children undergoing anesthesia and surgery. While many risk factors remain unmodifiable, there are numerous anesthetic management decisions which can impact the incidence and impact of these events, especially in at-risk children.
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Cohort description: Measures of early-life behaviour and later psychopathology in the LifeCycle Project - EU Child Cohort NetworkThe EU LifeCycle Project was launched in 2017 to combine, harmonise, and analyse data from more than 250,000 participants across Europe and Australia, involving cohorts participating in the EU-funded LifeCycle Project. The purpose of this cohort description is to provide a detailed overview over the major measures within mental health domains that are available in 17 European and Australian cohorts participating in the LifeCycle Project.
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Staying moving, staying strong: Protocol for developing culturally appropriate information for Aboriginal people with osteoarthritis, rheumatoid arthritis, lupus and goutAddressing disparities in arthritis care is an important yet unmet health need for Aboriginal and Torres Strait Islander people in Australia (respectfully Aboriginal people herewith). Despite the significant prevalence and burden of arthritis within Aboriginal communities, access to care for arthritis is low.
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Evidence that infant and early childhood developmental impairments are associated with hallucinatory experiences: Results from a large, population-based cohort studyCognitive and motor dysfunction are hallmark features of the psychosis continuum, and have been detected during late childhood and adolescence in youth who report psychotic experiences (PE). However, previous investigations have not explored infancy and early childhood development.
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Levels of pneumococcal conjugate vaccine coverage and indirect protection against invasive pneumococcal disease and pneumonia hospitalisations in Australia: An observational studyThere is limited empiric evidence on the coverage of pneumococcal conjugate vaccines (PCVs) required to generate substantial indirect protection. We investigate the association between population PCV coverage and indirect protection against invasive pneumococcal disease (IPD) and pneumonia hospitalisations among undervaccinated Australian children.
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Fuel feedstock determines biodiesel exhaust toxicity in a human airway epithelial cell exposure modelBiodiesel is promoted as a sustainable replacement for commercial diesel. Biodiesel fuel and exhaust properties change depending on the base feedstock oil/fat used during creation. The aims of this study were, for the first time, to compare the exhaust exposure health impacts of a wide range of biodiesels made from different feedstocks and relate these effects with the corresponding exhaust characteristics.