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Discrete choice experiment to evaluate preferences of patients with cystic fibrosis among alternative treatment-related health outcomes: A protocolThe aim of this study is to identify and quantify the preferences of patients with cystic fibrosis regarding treatment outcomes
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Hospitalisations for maternal assault are associated with increased risk of child protection involvementChild maltreatment allegation is common in children following a maternal hospitalisation for assault
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Validation of monoclonal anti-PKC isozyme antibodies for flow cytometry analyses in human T cell subsets and expression in cord blood T cellsWe have undertaken to validating the specificity of commercially available antibodies marketed for flow cytometry to measure PKCα, βI, βII, δ, ε, η, θ, ζ, ι/λ and μ
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Agreement between units of measure for paediatric antibiotic utilisation surveillance using hospital pharmacy supply dataAgreement between the DDD and vial-based measures of use supports the use of DDD for select antibiotics that may be targeted by antimicrobial stewardship programs
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The role and therapeutic implications of T cells in cancer of the lungThis review examines the role of T cells in lung cancer, discussing the direction and clinical significance of current and future immunotherapeutic strategies
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Innate immune activation occurs in acute food protein–induced enterocolitis syndrome reactionsFood reactions in food protein–induced enterocolitis syndrome are predominantly underpinned by activation of the innate immune system
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Spatial clustering of notified tuberculosis in Ethiopia: A nationwide studySubstantial spatial clustering of notified tuberculosis was detected at region, zone and district level in Ethiopia
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Longitudinal Cognitive Performance in Individuals at Ultrahigh Risk for Psychosis: A 10-year Follow-upThe onset of psychosis was not associated with deterioration in cognitive ability
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The public health control of scabies: priorities for research and actionScabies causes considerable morbidity and leads to severe bacterial infection and immune-mediated disease
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Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international datasetCharacterized by early-onset seizures, global developmental delay and severe motor deficits, CDKL5 deficiency disorder is caused by pathogenic variants in the cyclin-dependent kinase-like 5 gene. Previous efforts to investigate genotype-phenotype relationships have been limited due to small numbers of recurrent mutations and small cohort sizes. Using data from the International CDKL5 Disorder Database we examined genotype-phenotype relationships for 13 recurrent CDKL5 variants and the previously analyzed historic variant groupings. We have applied the CDKL5 Developmental Score (CDS) and an adapted version of the CDKL5 Clinical Severity Assessment (CCSA), to grade the severity of phenotype and developmental outcomes for 285 individuals with CDKL5 variants.