21 research outputs found

    Worldwide Testing of the eFACE Facial Nerve Clinician-Graded Scale

    No full text
    Item does not contain fulltextBACKGROUND: The electronic, clinician-graded facial function scale (eFACE) is a potentially useful tool for assessing facial function. Beneficial features include its digital nature, use of visual analogue scales, and provision of graphic outputs and scores. The authors introduced the instrument to experienced facial nerve clinicians for feedback, and examined the effect of viewing a video tutorial on score agreement. METHODS: Videos of 30 patients with facial palsy were embedded in an Apple eFACE application. Facial nerve clinicians were invited to perform eFACE video rating and tutorial observation. Participants downloaded the application, viewed the clips, and applied the scoring. They then viewed the tutorial and rescored the clips. Analysis of mean, standard deviation, and confidence interval were performed. Values were compared before and after tutorial viewing, and against scores obtained by an experienced eFACE user. RESULTS: eFACE feedback was positive; participants reported eagerness to apply the instrument in clinical practice. Standard deviation decreased significantly in only two of the 16 categories after tutorial viewing. Subscores for static, dynamic, and synkinesis all demonstrated stable standard deviations, suggesting that the instrument is intuitive. Participants achieved posttutorial scores closer to the experienced eFACE user in 14 of 16 scores, although only a single score, nasolabial fold orientation with smiling, achieved statistically significant improvement. CONCLUSIONS: The eFACE may be a suitable, cross-platform, digital instrument for facial function assessment, and was well received by facial nerve experts. Tutorial viewing does not appear to be necessary to achieve agreement, although it does mildly improve agreement between occasional and frequent eFACE users

    A GWAS meta-analysis from 5 population-based cohorts implicates ion channel genes in the pathogenesis of irritable bowel syndrome

    No full text
    BackgroundIrritable bowel syndrome (IBS) shows genetic predisposition, however, large-scale, powered gene mapping studies are lacking. We sought to exploit existing genetic (genotype) and epidemiological (questionnaire) data from a series of population-based cohorts for IBS genome-wide association studies (GWAS) and their meta-analysis. MethodsBased on questionnaire data compatible with Rome III Criteria, we identified a total of 1335 IBS cases and 9768 asymptomatic individuals from 5 independent European genotyped cohorts. Individual GWAS were carried out with sex-adjusted logistic regression under an additive model, followed by meta-analysis using the inverse variance method. Functional annotation of significant results was obtained via a computational pipeline exploiting ontology and interaction networks, and tissue-specific and gene set enrichment analyses. Key ResultsSuggestive GWAS signals (P5.0x10(-6)) were detected for 7 genomic regions, harboring 64 gene candidates to affect IBS risk via functional or expression changes. Functional annotation of this gene set convincingly (best FDR-corrected P=3.1x10(-10)) highlighted regulation of ion channel activity as the most plausible pathway affecting IBS risk. Conclusion & InferencesOur results confirm the feasibility of population-based studies for gene-discovery efforts in IBS, identify risk genes and loci to be prioritized in independent follow-ups, and pinpoint ion channels as important players and potential therapeutic targets warranting further investigation
    corecore