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Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 LocusIn about half of all patients with a suspected monogenic disease, genomic investigations fail to identify the diagnosis. A contributing factor is the difficulty with repetitive regions of the genome, such as those generated by segmental duplications. The ATAD3 locus is one such region, in which recessive deletions and dominant duplications have recently been reported to cause lethal perinatal mitochondrial diseases characterized by pontocerebellar hypoplasia or cardiomyopathy, respectively.
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Role of Tris-CaEDTA as an adjuvant with nebulised tobramycin in cystic fibrosis patients with Pseudomonas aeruginosa lung infections: A randomised controlled trialWe tested if disrupting iron utilisation by P. aeruginosa by adding the Tris-buffered chelating agent CaEDTA to nebulised tobramycin would enhance bacterial clearance and improve lung function in CF patients.
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COVID-19 Response and Lessons Learned on Dengue Control in BhutanCoronavirus disease 2019 (COVID-19) is an acute respiratory illness caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). SARS-CoV-2 initially was identified from a cluster of patients admitted with ‘pneumonia of unknown etiology’ in late December 2019 to hospitals in Wuhan, Hubei Province, China.
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Clinical Management of Staphylococcus aureus Bacteremia in Neonates, Children, and AdolescentsStaphylococcus aureus is a common cause of community and health care-associated bacteremia, with authors of recent studies estimating the incidence of S aureus bacteremia (SAB) in high-income countries between 8 and 26 per 100 000 children per year. Despite this, <300 children worldwide have ever been randomly assigned into clinical trials to assess the efficacy of treatment of SAB.
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Simultaneous Targeting of DNA Replication and Homologous Recombination in Glioblastoma with a Polyether IonophoreOur findings highlight the potential of salinomycin to induce DNA lesions and inhibit homologous recombination to greatly enhance the effect of radiotherapy
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The impact of new universal child influenza programs in Australia: Vaccine coverage, effectiveness and disease epidemiology in hospitalised children in 2018A significant reduction in severe influenza was observed in Australian children, possibly contributed to by improved vaccine coverage and high vaccine effectiveness
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A method for the generation of large numbers of dendritic cells from CD34+ hematopoietic stem cells from cord bloodNeonatal dendritic cells generated form CD34+ cord blood progenitors have a higher inflammatory potential when exposed to viral than bacterial related stimuli
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Early life exposure to coal mine fire smoke emissions and altered lung function in young childrenInfant exposure to coal mine fire emissions could be associated with long-term impairment of lung reactance
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Low-dose UV radiation before running wheel access activates brown adipose tissueWhen combined with physical activity, low-dose UVR may more effectively limit adiposity and modulate metabolic and immune pathways in iBAT
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Optimized peripheral blood progenitor cell mobilization for autologous hematopoietic cell transplantation in children with high-risk and refractory malignanciesOur approach to hematopoietic progenitor cells mobilization resulted in highly effective HPC harvest in children and adolescents with high-risk cancers