ObjectiveDiverticular disease is a common complex disorder characterised by mucosal outpouchings of the colonic wall that manifests through complications such as diverticulitis, perforation and bleeding. We report the to date largest genome-wide association study (GWAS) to identify genetic risk factors for diverticular disease.DesignDiscovery GWAS analysis was performed on UK Biobank imputed genotypes using 31 964 cases and 419 135 controls of European descent. Associations were replicated in a European sample of 3893 cases and 2829 diverticula-free controls and evaluated for risk contribution to diverticulitis and uncomplicated diverticulosis. Transcripts at top 20 replicating loci were analysed by real-time quatitative PCR in preparations of the mucosal, submucosal and muscular layer of colon. The localisation of expressed protein at selected loci was investigated by immunohistochemistry.ResultsWe discovered 48 risk loci, of which 12 are novel, with genome-wide significance and consistent OR in the replication sample. Nominal replication (p<0.05) was observed for 27 loci, and additional 8 in meta-analysis with a population-based cohort. The most significant novel risk variant rs9960286 is located near CTAGE1 with a p value of 2.3×10−10 and 0.002 (ORallelic=1.14 (95% CI 1.05 to 1.24)) in the replication analysis. Four loci showed stronger effects for diverticulitis, PHGR1 (OR 1.32, 95% CI 1.12 to 1.56), FAM155A-2 (OR 1.21, 95% CI 1.04 to 1.42), CALCB (OR 1.17, 95% CI 1.03 to 1.33) and S100A10 (OR 1.17, 95% CI 1.03 to 1.33).ConclusionIn silico analyses point to diverticulosis primarily as a disorder of intestinal neuromuscular function and of impaired connective fibre support, while an additional diverticulitis risk might be conferred by epithelial dysfunction.
FS analysis with intraoperative re-resection should be performed routinely in patients undergoing pancreatic cancer surgery with the aim to achieve a R0 resection.
The fields of music, health, and technology have seen significant interactions in recent years in developing music technology for health care and well-being. In an effort to strengthen the collaboration between the involved disciplines, the workshop “Music, Computing, and Health” was held to discuss best practices and state-of-the-art at the intersection of these areas with researchers from music psychology and neuroscience, music therapy, music information retrieval, music technology, medical technology (medtech), and robotics. Following the discussions at the workshop, this article provides an overview of the different methods of the involved disciplines and their potential contributions to developing music technology for health and well-being. Furthermore, the article summarizes the state of the art in music technology that can be applied in various health scenarios and provides a perspective on challenges and opportunities for developing music technology that (1) supports person-centered care and evidence-based treatments, and (2) contributes to developing standardized, large-scale research on music-based interventions in an interdisciplinary manner. The article provides a resource for those seeking to engage in interdisciplinary research using music-based computational methods to develop technology for health care, and aims to inspire future research directions by evaluating the state of the art with respect to the challenges facing each field.
Purpose Characterization of intraabdominal fluid collections as postoperative complication is a challenging task. The aim was to develop and validate a new score to differentiate infected from sterile postoperative abdominal fluid collections and to compare it with a published score. Materials and methods From May to November 2015, all patients with postoperative CT and C-reactive protein (CRP) 24 hours before CT-guided drainage were retrospectively included (Group A). HU, gas entrapment and wall enhancement of fluid collections were evaluated in the CT. All parameters were correlated with microbiology. To validate the score and to compare it with a published score, a second patient cohort was retrospectively recruited (Group B; January 2013-April 2015; December 2015-September 2016). Results In Group A (50 patients), univariate analysis confirmed that the four parameters were significantly associated with infected fluid collections. Based on binary logistic regression analysis, a score from 0 to 11 was developed (CRP ≥ 150 mg/l: 0/4 points; HU ≥ 20: 0/2 points; wall enhancement no/yes: 0/2 points; gas entrapment no/yes: 0/3 points). The best cutoff to diagnose infected fluid collections was ≥ 5 points (sensitivity 85%, specificity 79%, PPV 82%, NPV 79%). In Group B (425 patients), this score yielded sensitivity, specificity, PPV and NPV of 93%, 80%, 90% and 86%, respectively. For the published score, values were in the same range (93%, 44%, 77%, 77%). Conclusion The score provides good discrimination between infected and sterile postoperative abdominal fluid collections. It yields comparable accuracy as the published score.
Background: Pancreatic metastases from renal cell carcinoma (RCC) are clinically rare but highly resectable. The aim of this article is to identify patients who profit from pancreatic resection of RCC despite the invasiveness of the surgery. Methods: Between January 1996 and December 2007, data from 744 patients were collected in a prospective pancreatic surgery database, and patients with metastasis into the pancreas from RCC were identified. Results: Resective surgery was performed in 14 patients with metastasis to the pancreas from RCC. Most patients were clinically asymptomatic. The median interval between primary treatment of RCC and occurrence of pancreatic metastasis was 94 months (range 32–158). The morbidity rate was 42.8%. Patients with a metastasis size <2.5 cm had a much better survival after resection (100 months) than those with a metastasis size >2.5 cm (44 months). Moreover, the number of metastases predicts the survival after resection. Conclusions: In patients with pancreatic metastases from RCC who have only limited disease, complete resection of all lesions can be successfully performed with a low rate of complications. Thus, patients with a history of RCC should be monitored for more than 10 years after nephrectomy to detect recurrence.
In this article we determine the role of different musical features for the human categorization of folk songs into tune families in a large collection of Dutch folk songs. Through an annotation study we investigate the relation between musical features, perceived similarity and human categorization in music. We introduce a newly developed annotation method which is used to create an annotation data set for 360 folk song melodies in 26 tune families. This dataset delivers valuable information on the contribution of musical features to the process of categorization which is based on assessing the similarity between melodies. The analysis of the annotation data set reveals that the importance of single musical features for assessing similarity varies both between and within tune families. In general, the recurrence of short characteristic motifs is most relevant for the perception of similarity between songs belonging to the same tune family. Global melodic features often used for the description of melodies (such as melodic contour) play a less important role. The annotation data set is a valuable resource for further research on melodic similarity and can be used as enriched 'ground truth' to test various kinds of retrieval algorithms in Music Information Retrieval. Our annotation study exemplifies that assessing similarity is crucial for human categorization processes, which has been questioned within Cognitive Science in the context of rule-based approaches to categorization.2
Single-layer continuous anastomoses for ileo-colonic surgery can be safely performed, even in a teaching setting. Four preoperative risk factors for morbidity and four different factors for anastomotic leakage could be identified in multivariate analysis. If feasible, these factors should have an impact on the preoperative decision-making progress.
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