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Research
Protective benefit of predominant breastfeeding against otitis media may be limited to early childhood: results from a prospective birth cohort studyOur findings are in line with a number of epidemiological studies which show a positive association between breastfeeding and OM in early childhood
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The genetic associations of acute anterior uveitis and their overlap with the genetics of ankylosing spondylitisThese findings also suggest that variants in ERAP1 have a differential impact on the risk of AAU when compared with AS, and hence the genetic risk for AAU...
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A microbiome case-control study of recurrent acute otitis media identified potentially protective bacterial generaWe characterised the nasopharyngeal microbiome of these children in comparison to children with rAOM to identify potentially protective bacteria.
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Structural and IgE binding analyses of recombinant Der p 2 expressed from the hosts Escherichia coli and Pichia pastorisThe house dust mite allergen Der p 2 is one of the most important indoor allergens associated with allergic disease.
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Reference exome data for a Northern Brazilian populationExome sequencing is widely used in the diagnosis of rare genetic diseases and provides useful variant data for analysis of complex diseases. There is not always adequate population-specific reference data to assist in assigning a diagnostic variant to a specific clinical condition.
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A flexible computational pipeline for research analyses of unsolved clinical exome casesExome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar.
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Transketolase and vitamin B1 influence on ROS-dependent neutrophil extracellular traps (NETs) formationThe regulation of Transketolase by oxythiamine and/or vitamin B1 may therefore be associated with response to the modulation of NET formation
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Corynebacterium and Dolosigranulum: Future probiotic candidates for upper respiratory tract infectionsWe recently identified C. pseudodiphtheriticum and D. pigrum as the major nasopharyngeal species associated with resistance to recurrent ear infections
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Anti-Interleukin-10 Unleashes Transcriptional Response to Leishmanial Antigens in Visceral Leishmaniasis PatientsVisceral leishmaniasis (VL; Leishmania donovani) cases produce interferon-γ and tumor necrosis factor in response to soluble leishmanial antigen in whole-blood assays. Using transcriptional profiling, we demonstrate the impact of interleukin-10, a cytokine implicated in VL, on this response.
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Maternal and umbilical cord androgen concentrations do not predict digit ratio (2D:4D) in girls:Digit ratio (2D:4D) is widely used as a marker of prenatal androgen exposure