Guidelines for autopsy investigation of sudden cardiac death: 2017 update from the Association for European Cardiovascular Pathology.

Although sudden cardiac death (SCD) is one of the most important modes of death in Western countries, pathologists and public health physicians have not given this problem the attention it deserves. New methods of preventing potentially fatal arrhythmias have been developed and the accurate diagnosis of the causes of SCD is now of particular importance. Pathologists are responsible for determining the precise cause and mechanism of sudden death but there is still considerable variation in the way in which they approach this increasingly complex task. The Association for European Cardiovascular Pathology has developed these guidelines, which represent the minimum standard that is required in the routine autopsy practice for the adequate investigation of SCD. The present version is an update of our original article, published 10 years ago. This is necessary because of our increased understanding of the genetics of cardiovascular diseases, the availability of new diagnostic methods, and the experience we have gained from the routine use of the original guidelines. The updated guidelines include a detailed protocol for the examination of the heart and recommendations for the selection of histological blocks and appropriate material for toxicology, microbiology, biochemistry, and molecular investigation. Our recommendations apply to university medical centers, regionals hospitals, and all healthcare professionals practicing pathology and forensic medicine. We believe that their adoption throughout Europe will improve the standards of autopsy practice, allow meaningful comparisons between different communities and regions, and permit the identification of emerging patterns of diseases causing SCD. Finally, we recommend the development of regional multidisciplinary networks of cardiologists, geneticists, and pathologists. Their role will be to facilitate the identification of index cases with a genetic basis, to screen appropriate family members, and ensure that appropriate preventive strategies are implemented

Gluten: Is the information available on the Internet valid?

International audienceBackground. Internet provides easy access to health information, but the quality and validity of this information vary. Objectives. Evaluate the quality of website structures and the information provided on celiac disease (CD), gluten sensitivity (CS), and wheat allergy (WA). Materials and methods. The websites addressing CD, GS, and WA appearing on the first two pages of Google, Yahoo, and Bing from seven selected queries were investigated. We initially assessed the website structures with one instrument (Netscoring) and the presence of certification (quality label Health On the Net (HON code)). Then we evaluated the content of each website concerning the information about CD, CS, and WA. Our repository was based on the most recent guidelines of the European Society of Pediatric Gastroenterology, Hepatology, and Nutrition (ESPGHAN) and the World Gastroenterology Organization (WGO) published in 2012. The websites were classified into eight categories. Results. One hundred and five websites were included. Twenty-one websites obtained a sufficient score with the Netscoring instrument (average 113.6/312). There was a significant correlation between the referenced websites analyzed and the grades obtained with the Netscoring instrument (Pearson = 0.39, P = 0.2 x 10(-5)): websites of scientific societies (11.8/18), community websites (9.44/18), and website associations (9.4/18). There was a significant correlation between the results obtained for the websites on CD, GS, and WA and the results obtained for the websites with the Netscoring instruments (Pearson = 0.41, P = 2.6 x 10(-6)). Only three websites were consistent with the guidelines on CD, GS, and WA. Conclusion. The websites were partially in agreement with the guidelines. To date, the pediatrician remains the main actor in parental guidance concerning gluten information. (C) 2017 Elsevier Masson SAS. All rights reserved

Consideration surrounding incidental findings throughout multigene panelă testing in cancer genetics

International audienceno abstrac

OISO, traitement informatisé de la prise en charge en oncogénétique clinique

International audienceOncogenetics is a long-term process, which requires a close relation between patients and medical teams, good familial links allowing lifetime follow-up. Numerous documents are exchanged in between the medical team, which has to frequently interact. We present here a new tool that has been conceived specifically for this management

Three-dimensional investigation and scoring of extracellular matrix remodeling during lung fibrosis using multiphoton microscopy

International audienceThe organization of collagen during fibrotic processes is poorly characterized because of the lack of appropriate methodologies. Here we show that multimodal multiphoton microscopy provides novel insights into lung fibrosis. We characterize normal and fibrotic pulmonary tissue in the bleomycin model, and show that second-harmonic generation by fibrillar collagen reveals the micrometer-scale three-dimensional spatial distribution of the fibrosis. We find that combined two-photon excited fluorescence and second-harmonic imaging of unstained lung tissue allows separating the inflammatory and fibrotic steps in this pathology, underlining characteristic features of fibroblastic foci in human Idiopathic Pulmonary Fibrosis samples. Finally, we propose phenomenological scores of lung fibrosis and we show that they unambiguously sort out control and treated mice, with a better sensitivity and reproducibility in the subpleural region. These results should be readily generalized to other organs, as an accurate method to assess extracellular matrix remodeling during fibrosis. Microsc. Res. Tech., 2007. © 2006 Wiley-Liss, Inc

UMD-MLH1/MSH2/MSH6 databases: description and analysis of genetic variations in French Lynch syndrome families

International audienceLynch syndrome is an autosomal dominant disease caused by germ line heterozygous mutations mainly involving the MSH2, MLH1 and MSH6 genes that belong to the DNA MisMatch Repair (MMR) genes family. The French network counting the 16 licensed laboratories involved in Lynch syndrome genetic testing developed three locus-specific databases with the UMD software (www.umd.be/MLH1/, www.umd.be/MSH2/ and www.umd.be/MSH6/) that presently contain a total of 7047 sequence variations including 707 distinct variations of a priori unknown functional significance (VUS) that were identified through complete mutation screening or targeted predictive testing. Mutation carriers are at high risk for developing early-onset colorectal and endometrial adenocarcinomas. Consensus clinical guidelines have been proposed, allowing the efficient detection of curable lesions. The major challenge of genetic testing is to reliably classify the genomic variations in those patients who seek genetic counseling. Combining the interactive tools of the software, the relevant published data and mainly original information produced by the French MisMatch Repair network, the UMD-MLH1/MSH2/MSH6 databases provide interpretation data for the 707 VUS that were classified according to the IARC 5-Class system. These public databases are regularly updated to improve the classification of all registered VUS, exploring their role in cancer pre-disposition based on structural and functional approaches