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1. Suspicions of two bridgehead invasions of Xylella fastidiosa subsp. multiplex in France

Author

Enora Dupas, Karine Durand, Adrien Rieux, Martial Briand, Olivier Pruvost, Amandine Cunty, Nicolas Denancé, Cécile Donnadieu, Bruno Legendre, Céline Lopez-Roques, Sophie Cesbron, Virginie Ravigné, Marie-Agnès Jacques, Institut de Recherche en Horticulture et Semences (IRHS), Université d'Angers (UA)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Institut Agro Rennes Angers, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), Peuplements végétaux et bioagresseurs en milieu tropical (UMR PVBMT), Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad)-Institut de Recherche pour le Développement (IRD)-Université de La Réunion (UR)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Département Systèmes Biologiques (Cirad-BIOS), Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad), Laboratoire de santé des végétaux (LSV Angers), Laboratoire de la santé des végétaux (LSV), Agence nationale de sécurité sanitaire de l'alimentation, de l'environnement et du travail (ANSES)-Agence nationale de sécurité sanitaire de l'alimentation, de l'environnement et du travail (ANSES), Génome et Transcriptome - Plateforme Génomique ( GeT-PlaGe), Plateforme Génome & Transcriptome (GET), Génopole Toulouse Midi-Pyrénées [Auzeville] (GENOTOUL), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Génopole Toulouse Midi-Pyrénées [Auzeville] (GENOTOUL), Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Plant Health Institute of Montpellier (UMR PHIM), Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad)-Institut de Recherche pour le Développement (IRD)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE)-Institut Agro Montpellier, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Université de Montpellier (UM), the GET-PACBIO program (« Programme operationnel FEDER-FSE MIDI-PYRENEES ET GARONNE 2014-2020 ») European Union (European Regional Development Fund, ERDF contract GURDT 2016-1731-0006632), Conseil Régional de La Réunion and Centre de Coopération Internationale en Recherche Agronomique pour le Développement (CIRAD). Agence Nationale pour la Recherche., and ANR-17-CE35-0009,MUSEOBACT,'Une nuit au musée': mieux reconstuire les emergences de bactéries pathogènes des cultures grâce à des échantillons historiques(2017)

Subjects
MESH: France, MESH: Xylella, Medicine (miscellaneous), MESH: Italy, [SDV.BV]Life Sciences [q-bio]/Vegetal Biology, MESH: Europe, General Agricultural and Biological Sciences, General Biochemistry, Genetics and Molecular Biology
Abstract

Of American origin, a wide diversity of Xylella fastidiosa strains belonging to different subspecies have been reported in Europe since 2013 and its discovery in Italian olive groves. Strains from the subspecies multiplex (ST6 and ST7) were first identified in France in 2015 in urban and natural areas. To trace back the most probable scenario of introduction in France, the molecular evolution rate of this subspecies was estimated at 3.2165 × 10-7 substitutions per site per year, based on heterochronous genome sequences collected worldwide. This rate allowed the dating of the divergence between French and American strains in 1987 for ST6 and in 1971 for ST7. The development of a new VNTR-13 scheme allowed tracing the spread of the bacterium in France, hypothesizing an American origin. Our results suggest that both sequence types were initially introduced and spread in Provence-Alpes-Côte d’Azur (PACA); then they were introduced in Corsica in two waves from the PACA bridgehead populations.

Published
2023

2. Liver transplantation for patients with acute-on-chronic liver failure (ACLF) in Europe: Results of the ELITA/EF-CLIF collaborative study (ECLIS)

Author

Luca S. Belli, Christophe Duvoux, Thierry Artzner, William Bernal, Sara Conti, Paolo A. Cortesi, Sophie-Caroline Sacleux, George-Philippe Pageaux, Sylvie Radenne, Jonel Trebicka, Javier Fernandez, Giovanni Perricone, Salvatore Piano, Silvio Nadalin, Maria C. Morelli, Silvia Martini, Wojciech G. Polak, Krzysztof Zieniewicz, Christian Toso, Marina Berenguer, Claudia Iegri, Federica Invernizzi, Riccardo Volpes, Vincent Karam, René Adam, François Faitot, Liane Rabinovich, Faouzi Saliba, Lucy Meunier, Mickael Lesurtel, Frank E. Uschner, Costantino Fondevila, Baptiste Michard, Audrey Coilly, Magdalena Meszaros, Domitille Poinsot, Andreas Schnitzbauer, Luciano G. De Carlis, Roberto Fumagalli, Paolo Angeli, Vincente Arroyo, Rajiv Jalan, Raffaella Viganò, Chiara Mazzarelli, Andrea Lauterio, Alessandro Giacomoni, Francesca Donato, Pietro Lampertico, Luisa Pasulo, Stefano Fagiuoli, Michele Colledan, Maria Cristina Morelli, Giovanni Vitale, Damiano Patrono, Renato Romagnoli, Antonio Ottobrelli, Ioannis Petridis, Umberto Cillo, Giacomo Germani, Patrizia Burra, Philippe Bachellier, Pietro Addeo, Camille Besch, Francoise Faitot, Sophie Caroline Sacleux, Saliba Faouzi, Rene Adam, Didier Samuel, Celine Guichon, Stéfanie Faure, Josè Ursic-Bedoya, Jorde Colmenero, David Toapanta, María Hernández-Tejero, Carmen Vinaixa, Caroline den Hoed, Jubi E. de Haan, Andrea Della Penna, Frank Erhard Uschner, Martin Welker, Stefan Zeuzem, Wolf Bechstein, Nicolas Goossens, Joanna Raszeja-Wyszomirska, Dev Katarey, Banwari Agarwal, Surgery, Internal Medicine, Gastroenterology & Hepatology, Intensive Care, ASST Great Metropolitan Niguarda / ASST Grande Ospedale Metropolitano Niguarda [Milan, Italia], Hôpital Henri Mondor, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Henri Mondor-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Hôpital de Hautepierre [Strasbourg], King‘s College London, Ospedale Multimedica Sesto San Giovanni, Università degli Studi di Milano-Bicocca = University of Milano-Bicocca (UNIMIB), Centre Hépato-Biliaire [Hôpital Paul Brousse] (CHB), Hôpital Paul Brousse-Assistance Publique - Hôpitaux de Paris, Physiopathologie et traitement des maladies du foie, Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Département d'Hépato-Gastroentérologie et de Transplantation Hépatique [CHU Saint-Eloi], Hôpital Saint Eloi (CHRU Montpellier), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)-Université de Montpellier (UM), Service d'Hépatologie [Hôpital de la Croix-Rousse - HCL], Hôpital de la Croix-Rousse [CHU - HCL], Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Goethe-University Frankfurt am Main, European Foundation for Study of Chronic Liver Failure [Barcelona] (EF CLIF), Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Universitat de Barcelona (UB), Centro de Investigación Biomédica en Red en el Área temática de Enfermedades Hepáticas y Digestivas (CIBERehd), Liver Unit, Clínica Universitaria, CIBER-EHD, Azienda Ospedale Università di Padova = Hospital-University of Padua (AOUP), Universitätsklinikum Tübingen - University Hospital of Tübingen, Eberhard Karls Universität Tübingen = Eberhard Karls University of Tuebingen, Azienda Ospedaliero-Universitaria di Bologna, Azienda Ospedalerio - Universitaria Città della Salute e della Scienza di Torino = University Hospital Città della Salute e della Scienza di Torino, Erasmus University Medical Center [Rotterdam] (Erasmus MC), Medical University of Warsaw - Poland, Geneva University Hospitals and Geneva University, Hospital Universitari i Politècnic La Fe = University and Polytechnic Hospital La Fe, Hospital Papa Giovanni XXIII (Hosp P Giovanni XXIII), Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, Istituto Mediterraneo per i Trapianti e Terapie ad Alta Specializzazione (ISMETT), Pôle des Pathologies Digestives Hépatiques et Transplantation [Hôpital Hautepierre-Strasbourg], Department of Physiopatology and Transplantation, University of Milan (DEPT), Università degli Studi di Milano = University of Milan (UNIMI), Ospedale S. Giovanni Battista-Molinette, Azienda Ospedaliera di Padova, Università degli Studi di Padova = University of Padua (Unipd), Hospital Clinic i Provincial de Barcelona (SCReN), University College London Hospitals (UCLH), Belli, L, Duvoux, C, Artzner, T, Bernal, W, Conti, S, Cortesi, P, Sacleux, S, Pageaux, G, Radenne, S, Trebicka, J, Fernandez, J, Perricone, G, Piano, S, Nadalin, S, Morelli, M, Martini, S, Polak, W, Zieniewicz, K, Toso, C, Berenguer, M, Iegri, C, Invernizzi, F, Volpes, R, Karam, V, Adam, R, Faitot, F, Rabinovich, L, Saliba, F, Meunier, L, Lesurtel, M, Uschner, F, Fondevila, C, Michard, B, Coilly, A, Meszaros, M, Poinsot, D, Schnitzbauer, A, De Carlis, L, Fumagalli, R, Angeli, P, Arroyo, V, Jalan, R, Fagiuoli, S, Goossens, Nicolas, and Salvy-Córdoba, Nathalie

Subjects
Male, 0301 basic medicine, Multi-drug resistant organisms, medicine.medical_treatment, Waiting list, Salvage therapy, Liver transplantation, Severity of Illness Index, MESH: Proportional Hazards Models, Cohort Studies, 0302 clinical medicine, MESH: Risk Factors, Risk Factors, Medicine, MESH: Cohort Studies, Acute-on-Chronic Liver Failure, MESH: Aged, High rate, MESH: Middle Aged, ddc:617, Hazard ratio, MESH: Acute-On-Chronic Liver Failure, Middle Aged, Prognosis, Predictive factors, Italy, Female, 030211 gastroenterology & hepatology, Adult, MESH: Liver Transplantation, medicine.medical_specialty, MESH: Prognosis, 03 medical and health sciences, MESH: Severity of Illness Index, Internal medicine, Humans, Acute on chronic liver failure, Renal replacement therapy, Aged, Proportional Hazards Models, Retrospective Studies, MESH: Humans, Hepatology, business.industry, MESH: Italy, MESH: Adult, MESH: Retrospective Studies, [SDV.MHEP.HEG]Life Sciences [q-bio]/Human health and pathology/Hépatology and Gastroenterology, Retrospective cohort study, [SDV.MHEP.HEG] Life Sciences [q-bio]/Human health and pathology/Hépatology and Gastroenterology, Multi-drug resistant organism, MESH: Male, 030104 developmental biology, Predictive factor, business, MESH: Female
Abstract

Background & Aims: Liver transplantation (LT) has been proposed as an effective salvage therapy even for the sickest patients with acute-on-chronic liver failure (ACLF). This large collaborative study was designed to assess the current clinical practice and outcomes of patients with ACLF who are wait-listed for LT in Europe. Methods: This was a retrospective study including 308 consecutive patients with ACLF, listed in 20 centres across 8 European countries, from January 2018 to June 2019. Results: A total of 2,677 patients received a LT: 1,216 (45.4%) for decompensated cirrhosis. Of these, 234 (19.2%) had ACLF at LT: 58 (4.8%) had ACLF-1, 78 (6.4%) had ACLF-2, and 98 (8.1%) had ACLF-3. Wide variations were observed amongst countries: France and Germany had high rates of ACLF-2/3 (27-41%); Italy, Switzerland, Poland and the Netherlands had medium rates (9-15%); and the United Kingdom and Spain had low rates (3-5%) (p 4 mmol/L (hazard ratio [HR] 3.14; 95% CI 1.37-7.19), recent infection from multidrug resistant organisms (HR 3.67; 95% CI 1.63-8.28), and renal replacement therapy (HR 2.74; 95% CI 1.37-5.51) were independent predictors of post-LT mortality. During the same period, 74 patients with ACLF died on the waiting list. In an intention-to-treat analysis, 1-year survival of patients with ACLF on the LT waiting list was 73% for ACLF-1 or-2 and 50% for ACLF-3. Conclusion: The results reveal wide variations in the listing of patients with ACLF in Europe despite favourable post-LT survival. Risk factors for mortality were identified, enabling a more pre-cise prognostic assessment of patients with ACLF. Lay summary: Acute-on-chronic liver failure (ACLF) is a severe clinical condition for which liver transplantation is an effective therapeutic option. This study has demonstrated that in Europe, referral and access to liver transplantation (LT) for patients with ACLF needs to be harmonised to avoid inequities. Post-LT survival for patients with ACLF was >80% after 1 year and some factors have been identified to help select patients with favourable outcomes. (C) 2021 European Association for the Study of the Liver. Published by Elsevier B.V. All reserved.

Published
2021

3. Outcome associated with prescription of cardiac rehabilitation according to predicted risk after acute myocardial infarction: Insights from the FAST-MI registries

Author

Debiec, Hanna, Dossier, Claire, Letouzé, Eric, Gillies, Christopher, Vivarelli, Marina, Putler, Rosemary, Ars, Elisabet, Jacqz-Aigrain, Evelyne, Elie, Valery, Colucci, Manuela, Debette, Stéphanie, Amouyel, Philippe, Elalaoui, Siham, Sefiani, Abdelaziz, Dubois, Valérie, Kretzler, Matthias, Ballarin, Jose, Emma, Francesco, Sampson, Matthew, Deschênes, Georges, Ronco, Pierre, Ederhy, Stephane, Cohen, Ariel, Boccara, Franck, Aissaoui, Nadia, Elbaz, Meyer, Bonnefoy-Cudraz, Eric, Druelles, Philipe, Andrieu, Stéphane, Angoulvant, Denis, Furber, Alain, Cottin, Yves, Puymirat, Etienne, Bonaca, Marc, Iliou, Marie-Christine, Tea, Victoria, Ducrocq, Grégory, Douard, Hervé, Labrunee, Marc, Plastaras, Philoktimon, Chevallereau, Pierre, Taldir, Guillaume, Bataille, Vincent, Ferrières, Jean, Schiele, François, Simon, Tabassome, Danchin, Nicolas, Centre de Ressources Biologiques APHP-SU (PASS-CRB-APHP-SU), Unité Mixte de Service Production et Analyse de données en Sciences de la vie et en Santé (PASS), and Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
Male, Time Factors, MESH: Registries, health care facilities, manpower, and services, [SDV]Life Sciences [q-bio], medicine.medical_treatment, Cardiac rehabilitation, 030204 cardiovascular system & hematology, MESH: Risk Assessment, MESH: Aged, 80 and over, 0302 clinical medicine, Risk Factors, MESH: Risk Factors, Medicine, Registries, MESH: Cardiac Rehabilitation, 030212 general & internal medicine, Myocardial infarction, Atherothrombotic risk stratification, Non-ST Elevated Myocardial Infarction, health care economics and organizations, Cancer, MESH: Treatment Outcome, Aged, 80 and over, MESH: Aged, education.field_of_study, MESH: Middle Aged, Framingham Risk Score, Rehabilitation, nephrotic syndrome, MESH: Polymorphism, Single Nucleotide, Hazard ratio, Score, genetic renal disease, General Medicine, Middle Aged, MESH: Recovery of Function, 3. Good health, In-hospital mortality, Treatment Outcome, Stratification risque athérothrombotique, cardiovascular system, Female, France, Cardiology and Cardiovascular Medicine, medicine.medical_specialty, pediatrics, education, Population, Infarctus du myocarde, Acute myocardial infarction, Mortalité, MESH: Phenotype, Risk Assessment, 03 medical and health sciences, Intensive care, Internal medicine, MESH: Spain, Humans, cardiovascular diseases, Mortality, Réadaptation cardiaque, MESH: ST Elevation Myocardial Infarction, Medical prescription, Aged, focal segmental glomerulosclerosis, genome-wide association study, MESH: Humans, business.industry, MESH: Time Factors, MESH: Italy, Recovery of Function, medicine.disease, MESH: Male, MESH: Quantitative Trait Loci, MESH: Steroids, Confidence interval, MESH: France, MESH: Non-ST Elevated Myocardial Infarction, gene expression, Mortalité hospitalière, ST Elevation Myocardial Infarction, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, MESH: Nephrotic Syndrome, business, MESH: Female
Abstract

Cardiac rehabilitation is strongly recommended in patients after acute myocardial infarction.To assess cardiac rehabilitation prescription after acute myocardial infarction according to predicted risk, and its association with 1-year mortality, using the FAST-MI registries.We used data from three 1-month French nationwide registries, conducted 5 years apart from 2005 to 2015, including 13130 patients with acute myocardial infarction admitted to coronary or intensive care units. Atherothrombotic risk stratification was performed using the Thrombolysis In Myocardial Infarction Risk Score for Secondary Prevention (TRS-2P). Patients were classified into three categories: Group 1 (low risk; no or one risk indicator; score of 0 or 1); Group 2 (intermediate risk; two risk indicators; score of 2); and Group 3 (high risk; at least three risk indicators; score of≥3).Among the 12291 patients, cardiac rehabilitation prescription was 43.6% (49.9% in Group 1; 43.0% in Group 2; 35.2% in Group 3). Using Cox multivariable analysis, cardiac rehabilitation prescription was associated with lower mortality at 1 year in the overall population (3.8% vs. 8.2%; hazard ratio [HR] 0.72, 95% confidence interval [CI] 0.61-0.85; P0.001). Cardiac rehabilitation was associated with improved 1-year mortality, with homogeneous relative risk reductions in low- and intermediate-risk categories (HR 0.70, 95% CI 0.51-0.94) compared with high-risk patients (HR 0.72, 95% CI 0.59-0.88). In absolute terms, however, mortality decrease associated with cardiac rehabilitation was positively correlated with risk level (Group 1, 0.9% vs. 2.4%; Group 2, 3.0% vs. 4.2%; Group 3, 10.5% vs. 17.3%).Cardiac rehabilitation prescription was inversely correlated with patient risk. A positive association between cardiac rehabilitation and 1-year survival after acute myocardial infarction was present whatever the risk level, but the greatest mortality reduction was observed in high-risk patients.

Published
2019

4. Consensus report: clinical recommendations for the prevention and management of the nocebo effect in biosimilar-treated IBD patients

Author

Simona Radice, Maria Fazio, Marjorie Argollo, Marie Socha, Damien Loeuille, Ailsa Hart, Elena Vegni, Gionata Fiorino, Carmelo Carlo-Stella, Laurent Peyrin-Biroulet, Anthony Lopez, Silvio Danese, Stefanos Bonovas, Antonio Costanzo, Marien González-Lorenzo, Carlo Selmi, Fernando Magro, Daniela Gilardi, Lieven Pouillon, Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Imelda General Hospital, Humanitas Clinical and Research Center [Rozzano, Milan, Italy], St Mark's Hospital, Universidade Federal de São Paulo, Ingénierie Moléculaire et Physiopathologie Articulaire (IMoPA), Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS), Hospital de São João [Porto], Pouillon, L, Danese, S, Hart, A, Fiorino, G, Argollo, M, Selmi, C, Carlo Stella, C, Loeuille, D, Costanzo, A, Lopez, A, Vegni, E, Radice, S, Gilardi, D, Socha, M, Fazio, M, Gonzalez-Lorenzo, M, Bonovas, S, Magro, F, and Peyrin-Biroulet, L

Subjects
medicine.medical_specialty, Consensus, MESH: Biosimilar Pharmaceuticals, [SDV]Life Sciences [q-bio], media_common.quotation_subject, education, Treatment outcome, MEDLINE, 03 medical and health sciences, 0302 clinical medicine, MESH: Practice Guidelines as Topic, Voting, Secondary Prevention, Humans, [CHIM]Chemical Sciences, Medicine, Pharmacology (medical), Lack of knowledge, MESH: Nocebo Effect, 030212 general & internal medicine, Nocebo Effect, MESH: Consensus, Biosimilar Pharmaceuticals, MESH: Treatment Outcome, media_common, [PHYS]Physics [physics], MESH: Humans, MESH: Secondary Prevention, Hepatology, Medical treatment, business.industry, Gastroenterology, MESH: Italy, Biosimilar, Evidence-based medicine, Inflammatory Bowel Diseases, MESH: Inflammatory Bowel Diseases, 3. Good health, Europe, Treatment Outcome, Italy, Family medicine, Practice Guidelines as Topic, 030211 gastroenterology & hepatology, MESH: Europe, business
Abstract

Background The nocebo effect is a negative effect of a pharmacological or nonpharmacological medical treatment that is induced by patients' expectations, and that is unrelated to the physiological action of the treatment. The nocebo effect can negatively affect treatment outcomes. Aim To develop evidence-based consensus recommendations for the prevention and management of the nocebo effect in biosimilar-treated patients with IBD. Methods The "NOCE-BIO Consensus Group" was composed of 19 members from five European countries, and with different fields of expertise. A literature review on the nocebo effect, with specific focus on information about its prevention and management in biosimilar-treated IBD patients, was performed. Preliminary statements were formulated and voted on during a consensus group meeting held in Milan, Italy, in July 2018. A statement was accepted if >75% of participants voted 4 ("agree") or 5 ("strongly agree") on a scale of 1-5. Results Consensus was reached on 11 recommendation statements. Seven statements reached consensus after one voting round and four statements reached consensus after two voting rounds. All statements were supported by very low-quality level of evidence. The panel agreed that patient-health-care provider relationship is a key driver of acceptance of biosimilars, which limits the risk of negative bias and the nocebo effect. Lack of knowledge among patients and health-care providers about the effectiveness and safety of biosimilars should be minimized. Education about biosimilars needs to be tailored to the individual patient, and positive framing is recommended. Conclusions The nocebo effect is under-recognised in the era of biosimilars, although it may negatively impact on the cost-savings of biosimilars. Future research should focus on the magnitude, the risk factors, the impact, and the management of the nocebo effect in biosimilars-treated IBD patients.

Published
2019

5. Is Yersinia bercovieri Surpassing Yersinia enterocolitica in Wild Boars (Sus scrofa)?

Author

Bonardi, Silvia, Brémont, Sylvie, Vismarra, Alice, Poli, Ida, Diegoli, Giuseppe, Bolzoni, Luca, Corradi, Margherita, Gilioli, Stefano, Le Guern, Anne, Le Guern, Anne Sophie, Università degli studi di Parma = University of Parma (UNIPR), Centre National de Référence de la Peste et autres Yersinioses - National Reference Center Plague and Yersinioses (CNR), Institut Pasteur [Paris] (IP), Yersinia, Emilia-Romagna Region, Collective Prevention and Public Health Service [Bologna], Istituto Zooprofilattico Sperimentale della Lombardia e dell'Emilia Romagna 'Bruno Ubertini' (IZSLER), This study was partially supported by the Emilia-Romagna Region [Grant Number 964/25.06.2018]., University of Parma = Università degli studi di Parma [Parme, Italie], and Institut Pasteur [Paris]

Subjects
Serotype, Yersinia Infections, Y. bercovieri, 040301 veterinary sciences, Health, Toxicology and Mutagenesis, [SDV]Life Sciences [q-bio], 030231 tropical medicine, Sus scrofa, Animals, Wild, MESH: Yersinia enterocolitica, Yersinia bercovieri, Microbiology, 0403 veterinary science, 03 medical and health sciences, 0302 clinical medicine, Y enterocolitica 1A, Misidentification, medicine, Mesenteric lymph nodes, media_common.cataloged_instance, Animals, MESH: Animals, MESH: Animals, Wild, European union, Yersinia enterocolitica, media_common, Y. enterocolitica 1A, Ecology, biology, Zoonosis, MESH: Yersinia, Yersiniosis, MESH: Italy, 04 agricultural and veterinary sciences, Seasonality, biology.organism_classification, medicine.disease, Wild boars, MESH: Yersinia Infections, Yersinia, 3. Good health, Y bercovieri, MESH: Sus scrofa, medicine.anatomical_structure, Italy, Animal ecology, Seasons, MESH: Seasons
Abstract

International audience; Yersiniosis was the fourth reported zoonosis in the European Union in 2018. As well-known, pigs are recognized important reservoirs of Yersinia enterocolitica. The study was focused on Y. enterocolitica detection in mesenteric lymph nodes and faeces of 305 wild boars, but Yersinia bercovieri was more common, being isolated from 108 animals (35.4%). Cold season (p = 1.17 9 10-5) and young age (p = 0.004) significantly increased Y. bercovieri detection. Y. enterocolitica 1A belonging to six serotypes (O:4.32-4.33; O:5; O:6.30-6.31; O:7.8-8-8.19; O:10-34; O:12.25-12.26) was isolated from 8.2% (25/305) of the animals. Cold season significantly affected (p = 0.037) Y. enterocolitica detection.

Published
2020

6. Prevalence of SARS-CoV-2 in an area of unrestricted viral circulation: Mass seroepidemiological screening in Castiglione d'Adda, Italy

Author

Bruno Alessandro Rivieccio, Giuseppe Marano, Patrizia Boracchi, Dario Bernacchia, Cosimo Ottomano, Silvana Castaldi, Giacomo Buonanno, Vittore F. Scolari, Elia Biganzoli, Cecilia Eugenia Gandolfi, Camilla Caimi, Federico Conti, Andrea Giacomelli, Arianna Rizzo, Massimo Galli, Andrea Prina, Martina Beltrami, Gabriele Pagani, Rossana Rondanin, Università degli Studi di Milano [Milano] (UNIMI), Institut Curie [Paris], Centre National de la Recherche Scientifique (CNRS), Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), and Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico

Subjects
Male, Pulmonology, Cross-sectional study, Artificial Gene Amplification and Extension, Cardiovascular Medicine, Logistic regression, Antibodies, Viral, Polymerase Chain Reaction, Vascular Medicine, Biochemistry, Persistence (computer science), 0302 clinical medicine, Medical Conditions, Medicine, 050207 economics, MESH: Immunoglobulin G, education.field_of_study, Mediolanum, MESH: Immunoglobulin M, 3. Good health, Italy, Cardiovascular Diseases, SARS CoV 2, medicine.medical_specialty, Science, education, Immunology, Microbiology, 03 medical and health sciences, MESH: Cross-Sectional Studies, 0502 economics and business, Humans, MESH: SARS-CoV-2, Molecular Biology Techniques, Molecular Biology, MESH: Prevalence, Medicine and health sciences, MESH: Humans, Organisms, Proteins, Covid 19, Reverse Transcriptase-Polymerase Chain Reaction, 030104 developmental biology, Cross-Sectional Studies, MESH: Female, MESH: Antibodies, Viral, 0301 basic medicine, RNA viruses, Viral Diseases, Coronaviruses, Physiology, [SDV]Life Sciences [q-bio], Serology, Immune Physiology, Epidemiology, Prevalence, MESH: COVID-19, Mass Screening, Coronary Heart Disease, 030212 general & internal medicine, Pathology and laboratory medicine, Virus Testing, 050208 finance, Multidisciplinary, Immune System Proteins, Transmission (medicine), 05 social sciences, Medical microbiology, Infectious Diseases, Viruses, Female, Pathogens, Research Article, SARS coronavirus, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Chronic Obstructive Pulmonary Disease, Population, Cardiology, MESH: COVID-19 Serological Testing, Research and Analysis Methods, Antibodies, COVID-19 Serological Testing, Diagnostic Medicine, Internal medicine, Seroprevalence, MESH: Mass Screening, Entire population, Biology and life sciences, business.industry, SARS-CoV-2, Viral pathogens, MESH: Italy, COVID-19, MESH: Male, Microbial pathogens, Immunoglobulin M, Immunoglobulin G, business
Abstract

Introduction: Castiglione D’Adda is one of the municipalities more precociously and severely affected by the Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) epidemic in Lombardy. With our study we aimed to understand the diffusion of the infection by mass serological screening. Methods: We searched for SARS-CoV-2 IgGs in the population on a voluntary basis using lateral flow immunochromatographic tests (RICT) on capillary blood (rapid tests). We then performed chemioluminescent serological assays (CLIA) and naso-pharyngeal swabs (NPS) in a randomized representative sample and in each subject with a positive rapid test. Factors associated with RICT IgG positivity were assessed by uni- and multivariable logistic regression models. Results: Out of the 4143 participants, 918 (22·2%) showed an RICT IgG positivity. In multivariable analysis, IgG positivity increases with age, with a significant non-linear effect (p=0·0404). We found 22 positive NPSs out of the 1330 performed. Conclusions: Albeit relevant, the IgG prevalence is lower than expected and suggests that a large part of the population remains susceptible to the infection. The observed differences in prevalence might reflect a different infection susceptibility by age group. A limited persistence of active infections (positive NPSs) could be found after several weeks after the epidemic peak in the area. Funding Statement: CISOM (Corpo Italiano di Soccorso dell'Ordine di Malta), FC Internazionale Milano, SFD s.p.a , Emporio Armani Olimpia Milano through donations to the Dipartimento di Scienze Biomediche e Cliniche (DIBIC) of the University of Milan and to Banca Mediolanum through donation to ASST FatebenefratelliSacco, Milano. Declaration of Interests: The authors declare no conflicts of interest. Ethics Approval Statement: The study was approved by University of Milan’s Ethical Committee.

Published
2020

7. Population genetics of Aedes albopictus (Diptera: Culicidae) in its native range in Lao People’s Democratic Republic

Author

Elliott F. Miot, Maysa T Motoki, Phoutmany Thammavong, Bruna Demari-Silva, Paul T. Brey, Pattamaporn Kittayapong, Nothasine Phommavanh, Dina M. Fonseca, Sébastien Marcombe, Somsanith Chonephetsarath, Jeffrey C. Hertz, Institut Pasteur du Laos, Réseau International des Instituts Pasteur (RIIP), Vysnova Partners, Inc. [Landover, MD], Smithsonian Institution, Rutgers, The State University of New Jersey [New Brunswick] (RU), Rutgers University System (Rutgers), Cellule Pasteur UPMC, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut Pasteur [Paris], Interactions Virus-Insectes - Insect-Virus Interactions (IVI), Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Universidade de São Paulo (USP), Naval Medical Research Unit Two [Singapore] (NAMRU-2), Naval Medical Research, Mahidol University [Bangkok], The views expressed in this publication are those of the author and do not necessarily reflect the official policy or position of the Department of the Navy, Department of Defense, nor the U.S. Government. This study was partially supported by the U.S. Naval Medical Research Unit TWO, work unit number D1428, in support of the Military Infectious Diseases Research Program and Institut Pasteur du Laos. I (JCH) am a military service member. This work was prepared as part of my official duties. Title 17, U.S.C., §105 provides that copyright protection under this title is not available for any work of the U.S. Government. Title 17, U.S.C., §101 defines a U.S. Government work as a work prepared by a military service member or employee of the U.S. Government as part of that person’s official duties., Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut Pasteur [Paris] (IP), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), and Universidade de São Paulo = University of São Paulo (USP)

Subjects
0301 basic medicine, MESH: Sequence Analysis, DNA, Mosquito Control, viruses, MESH: Asia, Southeastern, Population genetics, cox1 gene, Gene flow, 0302 clinical medicine, Aedes, Cluster Analysis, MESH: Animals, MESH: Genetic Variation, MESH: Phylogeny, Asia, Southeastern, Phylogeny, MESH: Mosquito Control, education.field_of_study, biology, Asia, Eastern, Ecology, MESH: DNA, MESH: Aedes, Aedes albopictus, Mitochondria, Infectious Diseases, Italy, Laos, Genetic structure, MESH: Tropical Climate, Female, MESH: Mosquito Vectors, Algorithms, Genetic population, MESH: Mitochondria, MESH: Bayes Theorem, 030231 tropical medicine, Population, MESH: Genetics, Population, MESH: Algorithms, Mosquito Vectors, lcsh:Infectious and parasitic diseases, Electron Transport Complex IV, 03 medical and health sciences, Lao PDR, MESH: Electron Transport Complex IV, MESH: United States, Animals, lcsh:RC109-216, Genetic variability, education, Isolation by distance, Tropical Climate, Research, fungi, Genetic Variation, MESH: Italy, Bayes Theorem, DNA, Sequence Analysis, DNA, MESH: Haplotypes, 15. Life on land, biology.organism_classification, MESH: Far East, MESH: Cluster Analysis, United States, [SDV.BA.ZI]Life Sciences [q-bio]/Animal biology/Invertebrate Zoology, Genetics, Population, 030104 developmental biology, Haplotypes, MESH: Laos, Parasitology, MESH: Female
Abstract

BackgroundThe Asian tiger mosquito,Aedes(Stegomyia)albopictus(Skuse) is an important worldwide invasive species and can be a locally important vector of chikungunya, dengue and, potentially, Zika. This species is native to Southeast Asia where populations thrive in both temperate and tropical climates. A better understanding of the population structure ofAe. albopictusin Lao PDR is very important in order to support the implementation of strategies for diseases prevention and vector control. In the present study, we investigated the genetic variability ofAe. albopictusacross a north-south transect in Lao PDR.MethodsWe used variability in a 1337-bp fragment of the mitochondrial cytochromecoxidase subunit 1 gene (cox1), to assess the population structure ofAe. albopictusin Lao PDR. For context, we also examined variability at the same genetic locus in samples ofAe. albopictusfrom Thailand, China, Taiwan, Japan, Singapore, Italy and the USA.ResultsWe observed very high levels of genetic polymorphism with 46 novel haplotypes inAe. albopictusfrom 9 localities in Lao PDR and Thailand populations. Significant differences were observed between the Luangnamtha population and other locations in Lao PDR. However, we found no evidence of isolation by distance. There was overall little genetic structure indicating ongoing and frequent gene flow among populations or a recent population expansion. Indeed, the neutrality test supported population expansion in LaotianAe. albopictusand mismatch distribution analyses showed a lack of low frequency alleles, a pattern often seen in bottlenecked populations. When samples from Lao PDR were analyzed together with samples from Thailand, China, Taiwan, Japan, Singapore, Italy and the USA, phylogenetic network and Bayesian cluster analysis showed that most populations from tropical/subtropical regions are more genetically related to each other, than populations from temperate regions. Similarly, most populations from temperate regions are more genetically related to each other, than those from tropical/subtropical regions.ConclusionsAedes albopictusin Lao PDR are genetically related to populations from tropical/subtropical regions (i.e. Thailand, Singapore, and California and Texas in the USA). The extensive gene flow among locations in Lao PDR indicates that local control is undermined by repeated introductions from untreated sites.

Published
2019

8. Trauma and amyotrophic lateral sclerosis: a european population-based case-control study from the EURALS consortium

Author

Christian Lunetta, Danira Damiani, Giorgia Giussani, Lucio Tremolizzo, Giancarlo Logroscino, Douglas Mitchell, Maria Cotelli, Elisabetta Pupillo, Zorica Stevic, Monica Bandettini di Poggio, Massimiliano Filosto, Elisa Bianchi, Nilo Riva, Ettore Beghi, Benoît Marin, Massimo Corbo, Eugenio Vitelli, Michele Perini, Adriano Chiò, Orla Hardiman, Stefano Zoccolella, M. Poloni, James Rooney, Andrea Calvo, Laboratory of Neurologic Diseases, Mario Negri Institute, Milan, Università degli studi di Bari Aldo Moro (UNIBA), Dept. Medical Biochemistry, Biology and Physics, Università degli studi di Torino (UNITO), Neuroépidémiologie Tropicale (NET), Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-CHU Limoges-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de l'Information Médicale et de l'Évaluation [CHU Limoges] (SIME), CHU Limoges, Laboratoire de Biostatistique et d'Informatique Médicale, Université de Limoges (UNILIM), Trinity College Dublin, Institute of Neurology, Clinical Center of Serbia, University of Belgrade, Belgrade, University of Belgrade [Belgrade], Dipartimento di Neuroscienze, riabilitazione, oftalmologia, genetica e scienze materno-infantili [Genova] (DINOGMI), Universita degli studi di Genova, Pupillo, E, Poloni, M, Bianchi, E, Giussani, G, Logroscino, G, Zoccolella, S, Chiò, A, Calvo, A, Corbo, M, Lunetta, C, Marin, B, Mitchell, D, Hardiman, O, Rooney, J, Stevic, Z, Bandettini Di Poggio, M, Filosto, M, Cotelli, M, Perini, M, Riva, N, Tremolizzo, L, Vitelli, E, Damiani, D, and Beghi, E

Subjects
0301 basic medicine, Male, MESH: United Kingdom, Pediatrics, Poison control, MESH: Logistic Models, Occupational safety and health, 0302 clinical medicine, Risk Factors, MESH: Risk Factors, Epidemiology, Ethnicity, Odds Ratio, Craniocerebral Trauma, Amyotrophic lateral sclerosis, case-control, epidemiology, Europe, trauma, MESH: Amyotrophic Lateral Sclerosis, MESH: Aged, education.field_of_study, Neurology, Neurology (clinical), MESH: Middle Aged, MESH: Ireland, Age Factors, Middle Aged, MESH: Case-Control Studies, 3. Good health, Italy, Female, MESH: Ethnic Groups, France, Serbia, Adult, medicine.medical_specialty, Population, MESH: Craniocerebral Trauma, 03 medical and health sciences, Injury prevention, medicine, Humans, education, Amyotrophic lateral sclerosi, Aged, MESH: Age Factors, MESH: Humans, business.industry, Case-control study, MESH: Italy, MESH: Adult, Odds ratio, medicine.disease, United Kingdom, MESH: Male, MESH: Odds Ratio, MESH: Serbia, MESH: France, 030104 developmental biology, Logistic Models, Case-Control Studies, Physical therapy, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, business, Ireland, MESH: Female, 030217 neurology & neurosurgery
Abstract

International audience; OBJECTIVES:To assess the association between amyotrophic lateral sclerosis (ALS) and previous traumatic events, age of trauma, and site of injury.METHODS:A population-based case-control study was performed in five European countries (Italy, Ireland, France, United Kingdom, Serbia). Newly diagnosed ALS patients and matched controls were interviewed to collect relevant demographic factors and exposures. Key clinical features at diagnosis were collected in ALS patients. Trauma was any accidental event causing an injury. Injuries were dated and classified according to cause, severity, type, site, and complications. All exposures were censored five years before symptoms onset. Risks were computed as odds ratios (OR) with 95% confidence intervals (CI) using univariate and multivariate conditional logistic regression models.RESULTS:Five hundred and seventy-five ALS patients and 1150 controls were interviewed. Disabling traumatic events predominated in the cases (OR 1.54 (95% CI 1.24-1.92)) and maintained significance after adjustment, with a significant gradient. A history of 2 + head injuries was associated with an almost three-fold increased risk of ALS. The risk was almost two-fold when trauma occurred at age 35-54 years. Site of injury was uneventful.CONCLUSIONS:Traumatic events leading to functional disability or confined to the head are risk factors for ALS. Traumatic events experienced at age 35-54 years carry the highest risk.

Published
2018

9. Is chronic exposure to air pollutants a risk factor for the development of idiopathic pulmonary fibrosis?

Author

Bruno Crestani, Valérie Siroux, Université Grenoble Alpes (UGA), Institute for Advanced Biosciences / Institut pour l'Avancée des Biosciences (Grenoble) (IAB), Centre Hospitalier Universitaire [Grenoble] (CHU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Etablissement français du sang - Auvergne-Rhône-Alpes (EFS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Physiopathologie et Epidémiologie des Maladies Respiratoires (PHERE (UMR_S_1152 / U1152)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Pneumologie A [Paris], AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Fibrose Inflammation Remodelage [Hôpitaux Universitaires Paris Nord Val de Seine] (DHU FIRE ), Hôpitaux Universitaires Paris Nord Val de Seine, Siroux, Valérie, and Centre Hospitalier Universitaire [Grenoble] (CHU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Etablissement français du sang - Auvergne-Rhône-Alpes (EFS)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])

Subjects
Pulmonary and Respiratory Medicine, Chronic exposure, medicine.medical_specialty, MESH: Air Pollution, MESH: Air Pollutants, MESH: Idiopathic Pulmonary Fibrosis, Pulmonary Fibrosis, Gastroenterology, [SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract, 03 medical and health sciences, Idiopathic pulmonary fibrosis, 0302 clinical medicine, Air pollutants, MESH: Risk Factors, Risk Factors, Internal medicine, Air Pollution, Pulmonary fibrosis, medicine, Humans, 030212 general & internal medicine, MESH: Incidence, Risk factor, ComputingMilieux_MISCELLANEOUS, Air Pollutants, MESH: Humans, MESH: Pulmonary Fibrosis, business.industry, Incidence (epidemiology), Incidence, MESH: Italy, medicine.disease, Idiopathic Pulmonary Fibrosis, 3. Good health, 030228 respiratory system, Italy, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, 13. Climate action, [SDV.MHEP.PSR] Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, business
Abstract

For the first time, a role of air pollution in the development of idiopathic pulmonary fibrosis is suggested http://ow.ly/EH2V30hBapf

Published
2017

10. Pseudobulbar affect (PBA) in an incident ALS cohort: results from the Apulia registry (SLAP)

Author

Tortelli, Rosa, Copetti, Massimiliano, Arcuti, Simona, Tursi, Marianna, Iurillo, Annalisa, Barulli, Rosa, Cortese, Rosa, Capozzo, Rosa, D’Errico, Eustachio, Marin, Benoît, Simone, Isabella Laura, Logroscino, Giancarlo, D'Errico, Eustachio, Università degli studi di Bari Aldo Moro (UNIBA), Statistic Unit, Istituto di Ricovero e Cura a Carattere Scientifico, Ospedale Casa Sollievo della Sofferenza [San Giovanni Rotondo] (IRCCS), Neuroépidémiologie Tropicale (NET), CHU Limoges-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), Laboratoire de Biostatistique et d'Informatique Médicale, Université de Limoges (UNILIM), Service de l'Information Médicale et de l'Évaluation [CHU Limoges] (SIME), and CHU Limoges

Subjects
Male, 0301 basic medicine, Pathology, Neurology, MESH: Registries, Cohort Studies, MESH: Aged, 80 and over, 0302 clinical medicine, Surveys and Questionnaires, Prospective Studies, Registries, MESH: Incidence, Amyotrophic lateral sclerosis, MESH: Cohort Studies, MESH: Amyotrophic Lateral Sclerosis, Neuroradiology, Aged, 80 and over, MESH: Aged, education.field_of_study, MESH: Middle Aged, medicine.diagnostic_test, Incidence, Middle Aged, 3. Good health, Italy, Cohort, Female, medicine.symptom, Adult, medicine.medical_specialty, Pseudobulbar affect, Pseudobulbar Palsy, Population, Neurological examination, 03 medical and health sciences, Internal medicine, medicine, Humans, MESH: Surveys and Questionnaires, education, Pathological, Aged, MESH: Humans, business.industry, MESH: Italy, MESH: Adult, medicine.disease, MESH: Male, MESH: Prospective Studies, MESH: Pseudobulbar Palsy, 030104 developmental biology, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Neurology (clinical), business, MESH: Female, 030217 neurology & neurosurgery
Abstract

International audience; The aim of this study is to investigate the frequency and the clinical correlations of pseudobulbar affect (PBA) in a population-based incident cohort of ALS patients. Incident ALS cases, diagnosed in 2011 and 2012, according to El Escorial criteria were enrolled from a prospective population-based registry in Apulia, Southern Italy. Neurological status was assessed using a standard neurological examination and the revised ALS Functional Rating Scale (ALSFRSr). The Center for Neurologic Study-Lability Scale (CNS-LS), a self-administered questionnaire, was used to evaluate the presence and severity of PBA. Total scores range from 7 to 35. A score ≥13 was used to identify the presence of PBA. One-hundred thirty-two sporadic incident ALS cases were enrolled. Median disease duration was 20 months (range 2-143), median onset-diagnosis interval (ODI) 12 months (range 2-131), median ALSFRSr at baseline 36/48 (range 2-47) and median ALSFRSr bulbar sub-score 10/12 (range 0-12). Neurological examination revealed presence of PBA in 34/132 patients (26%). Pathological CNS-LS score was found in 45/132 patients (34%). Median total CNS-LS score was 9/35 (range 7-29). The subgroup with pathological CNS-LS was characterized by a short disease duration from symptom onset, ODI, time to diffusion to a second region, time to generalization and ALSFRSr bulbar sub-score, bulbar onset, "definite" diagnostic category, bulbar upper motor-neuron involvement and presence of PBA at neurological examination. In population-based setting, one-third of ALS patients present PBA at diagnosis. The presence of PBA is associated with bulbar UMN involvement and markers of a more severe phenotype.

Published
2015

11. Strategies for Phasing and Imputation in a Population Isolate

Author

Teresa Nutile, Anthony F. Herzig, Céline Bellenguez, Anne-Louise Leutenegger, Marie Claude Babron, Marina Ciullo, Variabilité Génétique et Maladies Humaines, Institut Universitaire d'Hématologie (IUH), Université Paris Diderot - Paris 7 (UPD7)-Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Sorbonne Paris Cité (USPC), Institute of Genetics and Biophysics 'A. Buzzati Traverso' [Naples, Italy], National Research Council of Italy | Consiglio Nazionale delle Ricerche (CNR), Istituto Neurologico Mediterraneo (NEUROMED I.R.C.C.S.), Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome] (UNIROMA)-University of Naples Federico II = Università degli studi di Napoli Federico II, Facteurs de Risque et Déterminants Moléculaires des Maladies liées au Vieillissement - U 1167 (RID-AGE), Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Excellence Laboratory LabEx DISTALZ, ESGI—The research leading to these results has received funding from the Seventh Framework Programme [FP7/2007‐2013] under grant agreement no. 262055. A.F.H. was funded by an international Ph.D. fellowship from Sorbonne Paris Cité (convention HERZI15RDXMTSPC1LIETUE)., We address special thanks to the people of Campora for their participation in the study. We kindly thank the European Genome‐phenome Archive at the European Bioinformatics Institute for making available the UK10K imputation panel (EGAD00001000776) and HRC imputation panel (EGAD00001002729) for the use in our simulation study. We also thank the two anonymous reviewers for their comments that greatly improved the manuscript., European Project: 262055,EC:FP7:INFRA,FP7-INFRASTRUCTURES-2010-1,ESGI(2011), Consiglio Nazionale delle Ricerche [Roma] (CNR), Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome]-Università degli studi di Napoli Federico II, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Université de Lille-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Herzig, Anthony, and European Sequencing and Genotyping Infrastructure - ESGI - - EC:FP7:INFRA2011-02-01 - 2015-07-31 - 262055 - VALID

Subjects
0301 basic medicine, Male, Linkage disequilibrium, Epidemiology, Computer science, MESH: Software, [SDV.GEN] Life Sciences [q-bio]/Genetics, MESH: Haplotypes/genetics, Identity by descent, Software, MESH: Models, Genetic, Genetics (clinical), education.field_of_study, MESH: Chromosomes, Human, Pair 10/genetics, MESH: Genetics, Population, genotyping errors, Pedigree, Phenotype, founder effect, Italy, Research Design, study specific panel, Female, Algorithms, MESH: Pedigree, Population, MESH: Algorithms, Computational biology, MESH: Phenotype, identity by descent, 03 medical and health sciences, Gene mapping, MESH: Founder Effect, Humans, MESH: Research Design, education, Genotyping, MESH: Linkage Disequilibrium/genetics, [SDV.GEN]Life Sciences [q-bio]/Genetics, MESH: Humans, Models, Genetic, business.industry, Chromosomes, Human, Pair 10, Genome, Human, MESH: Italy, MESH: Male, 030104 developmental biology, Genetics, Population, MESH: Genome, Human/genetics, Haplotypes, business, MESH: Female, Imputation (genetics), linkage disequilibrium, Founder effect
Abstract

International audience; In the search for genetic associations with complex traits, population isolates offer the advantage of reduced genetic and environmental heterogeneity. In addition, cost-efficient next-generation association approaches have been proposed in these populations where only a sub-sample of representative individuals is sequenced and then genotypes are imputed into the rest of the population. Gene mapping in such populations thus requires high quality genetic imputation and preliminary phasing. To identify an effective study-design, we compare by simulation a range of phasing and imputation software and strategies. We simulated 1,115,604 variants on chromosome 10 for 477 members of the large complex pedigree of Campora, a village within the established isolate of Cilento in southern Italy. We assessed the phasing performance of IBD-based software ALPHAPHASE and SLRP, LD-based software SHAPEIT2, SHAPEIT3, and BEAGLE, and new software EAGLE which combines both methodologies. For imputation we compared IMPUTE2, IMPUTE4, MINIMAC3, BEAGLE, and new software PBWT. Genotyping errors and missing genotypes were simulated to observe their effects on the performance of each software. Highly accurate phased data were achieved by all software with SHAPEIT2, SHAPEIT3, and EAGLE2 providing the most accurate results. MINIMAC3, IMPUTE4, and IMPUTE2 all performed strongly as imputation software and our study highlights the considerable gain in imputation accuracy provided by a genome sequenced reference panel specific to the population isolate.

Published
2017

12. A multi-proxy assessment of dieback causes in a Mediterranean oak species

Author

Giovanna Battipaglia, Marco Borghetti, Michele Colangelo, Tiziana Gentilesca, J. Julio Camarero, Francesco Ripullone, Veronica De Micco, Colangelo, M., Camarero, J. j., Battipaglia, G., Borghetti, M., DE MICCO, Veronica, Gentilesca, T., Ripullone, F., Università degli studi della Basilicata [Potenza] (UNIBAS), Pyrenean Institute of Ecology (IPE), Spanish National Research Council (CSIC), Second University of Naples-Caserta, University of Naples Federico II, Institut des Sciences de l'Evolution de Montpellier (UMR ISEM), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université de Montpellier (UM)-Centre de Coopération Internationale en Recherche Agronomique pour le Développement (Cirad)-Centre National de la Recherche Scientifique (CNRS)-Institut de recherche pour le développement [IRD] : UR226, Colangelo, Michele, Camarero, J. Julio, Battipaglia, Giovanna, Borghetti, Marco, De Micco, Veronica, Gentilesca, Tiziana, and Ripullone, Francesco

Subjects
0106 biological sciences, Mediterranean climate, MESH: Wood, 010504 meteorology & atmospheric sciences, Physiology, δ18O, carbon and oxygen isotopes, MESH: Droughts, Plant Science, Forests, 01 natural sciences, climate warming, Trees, Quercus, southern Italy, MESH: Quercus, Dendrochronology, 0105 earth and related environmental sciences, Transpiration, biology, δ13C, dendrochronology, MESH: Italy, carbon and oxygen isotopes, climate warming, dendrochronology, non-structural carbohydrates, quantitative wood anatomy, Quercus frainetto, southern Italy, 15. Life on land, MESH: Forests, [SDV.BV.BOT]Life Sciences [q-bio]/Vegetal Biology/Botanics, biology.organism_classification, Wood, Quercus frainetto, Droughts, MESH: Trees, Horticulture, carbon and oxygen isotope, Forest dieback, Italy, non-structural carbohydrates, quantitative wood anatomy, non-structural carbohydrate, Multi proxy, 010606 plant biology & botany
Abstract

International audience; Drought stress causes forest dieback that is often explained by two interrelated mechanisms, namely hydraulic failure and carbon starvation. However, it is still unclear which functional and structural alterations, related to these mechanisms, predispose to dieback. Here we apply a multi-proxy approach for the characterization of tree structure (radial growth, wood anatomy) and functioning (δ13C, δ18O and non-structural carbohydrates (NSCs)) in tree rings before and after drought-induced dieback. We aim to discriminate which is the main mechanism and to assess which variables can act as early-warning proxies of drought-triggered damage. The study was tailored in southern Italy in two forests (i.e., San Paolo (SP) and Oriolo (OR)) where declining and non-declining trees of a ring-porous tree species (Quercus frainetto Ten.) showing anisohydric behavior coexist. Both stands showed growth decline in response to warm and dry spring conditions, although the onset of dieback was shifted between them (2002 in SP and 2009 in OR). Declining trees displayed a sharp growth drop after this onset with reductions of 49% and 44% at SP and OR sites, respectively. Further, contrary to what we expected, declining trees showed a lower intrinsic water-use efficiency compared with non-declining trees after the dieback onset (with reductions of 9.7% and 5.6% at sites SP and OR, respectively), due to enhanced water loss through transpiration, as indicated by the lower δ18O values. This was more noticeable at the most drought-affected SP stand. Sapwood NSCs did not differ between declining and non-declining trees, indicating no carbon starvation in affected trees. Thus, the characterized structural and functional alterations partially support the hydraulic failure mechanism of dieback. Finally, we show that growth data are reliable early-warning proxies of drought-triggered dieback.

Published
2017

13. Characteristics and treatment regimens across ERS SHARP severe asthma registries

Author

van Bragt, JJMH, Adcock, IM, Bel, EHD, Braunstahl, GJ, ten Brinke, A, Busby, J, Canonica, GW, Cao, H, Chung, KF, Csoma, Z, Dahlen, B, Davin, E, Hansen, S, Heffler, E, Horvath, I, Korn, S, Kots, M, Kuna, P, Kwon, N, Louis, R, Plaza, V, Porsbjerg, C, Ramos-Barbon, D, Richards, LB, Skrgat, S, Sont, JK, Vijverberg, SJH, Weersink, EJM, Yasinska, V, Wagers, SS, Djukanovic, R, Maitland-van der Zee, AH, Abenhardt, B, Adler, J, Alfonso, R, Ali, R, Alkameh, S, Sanchez, CA, Alvares, L, Anderson, G, Assing, K, Ayre, S, Becker, J, Bergmann, K, Bieksiene, K, Bjerring, N, Blasi, F, Bloemen, P, Blum, H, Boing, S, Bonavia, M, Bossios, A, Bourdin, A, Brons, A, Brusselle, G, Buis, J, Caiaffa, M, Calabrese, C, Camiciottoli, G, Caruso, C, Martinez, MC, Centanni, S, Serrano, CC, Corsico, A, Cosmi, L, Costantino, M, Costello, R, Crimi, N, Dahlen, S, D'Amato, M, Davies, D, Piqueras, FDGC, Decarlo, G, Deimling, A, Del Giacco, S, Campos, RD, Djandji, M, Doberer, D, Dupont, L, Dyett, K, Edelbaher, N, Edelmann, M, Ehmann, R, Ekberg-Jansson, A, Farsi, A, Favero, E, Feimer, J, Fletcher, M, Foschino, B, Frankemolle, B, Gaga, M, Gappa, M, de Pedro, JG, Rivero, JG, Gasplmayr, M, Gebhardt, R, Geldmacher, H, Geltner, C, Gerstlauer, M, Gibson, T, Giuseppe, G, Gogoll, C, Grimm-Sachs, V, Grisle, I, Grun, B, Grunewaldt, A, Guarnieri, G, Blanco, JG, Hamelmann, E, Hamerlijnck, D, Hammers-Reinhard, A, Hanon, S, Harzheim, D, Heaney, L, Hellmich, S, Herden, M, Hering, T, Herth, F, Hilberg, O, Howarth, P, Hubatsch, M, Humbert, M, Husemann, K, Idzko, M, Jackson, D, Jandl, M, Jaumont, X, Joos, G, Jost, M, Juch, M, Kabesch, M, Kaiser-Labusch, P, Kardos, P, Kassner, F, Keeley, T, Kerr, W, Kirschner, J, Klimek, L, Koca, M, Koczulla, R, Koerner-Rettberg, C, Kopac, P, Kronsbein, J, Lipinska, IK, Langer, M, Langeveld, B, Lantz, A, Lazarinis, N, Lazic, Z, Lehtimaki, L, Leuppi, J, Lombardi, C, Lommatzsch, M, Lopez-Vina, A, Luca, R, Ludviksdottir, D, Luttecke-Hecht, C, Macchia, L, Magni, T, Rivera, CM, Mastoridis, P, Mazza, F, Menzella, F, Menzies-Gow, A, Michils, A, Mihaltan, F, Milanese, M, Milger-Kneidinger, K, Molinska, J, Montagna, I, Montuschi, P, Mulleneisen, N, Esquerre, MM, Nanzer-Kelly, A, Nenasheva, N, Neurohr, C, Nucera, E, Otker, J, Oud, K, Paggiaro, P, Parente, R, Parkinson, J, Passalacqua, G, Patberg, N, Patella, V, Patino, O, Paulsson, T, Peche, R, Pelaia, G, Peress, E, de Llano, LP, Pfeffer, P, Pfister, P, Pilette, C, Sierra, CP, Pini, L, Powitz, F, Ranger, T, Rasmussen, L, Rasmussen, K, Rezelj, M, Ricciardi, L, Ricciardolo, F, Ridolo, E, Rijssenbeek-Nouwens, L, Rolla, G, Ribate, DR, Rudiger, S, Safioti, G, Sandstrom, T, Santus, P, Sauer, R, Schauerte, G, Schipmann, R, Schleich, F, Schmid, J, Schmidt, F, Schmidt, O, Schmitz, M, Schrag, T, Schroer, S, Schultz, K, Schulz, C, Scichilone, N, Sedlak, V, Selb, J, Senna, G, Sergejeva, S, Pariente, JS, Sichau, M, Simona, D, Singer, A, Skowasch, D, Smeenk, F, Smith, S, Solidoro, P, Spadaro, G, Spanevello, A, Stefansdottir, M, Steinmetz, K, Steiss, J, Stephan, M, Stieglitz, S, Suhling, H, Taube, C, Yavuz, ST, Tudoric, N, Ulrik, C, van de Ven, M, van den Elshout, F, Van Dyke, M, Van Nederveen-Bendien, S, van Veen, I, Vandenplas, O, Velthove, K, Vianello, A, Vogelberg, C, Wallen-Nielsen, E, Weersink, EJ, Wisskirchen, T, Yacoub, M, Yancey, S, Zappa, M, Zielen, S, Zimmermann, C, Zimmermann, R, Graduate School, AII - Inflammatory diseases, APH - Personalized Medicine, Pulmonology, Paediatric Pulmonology, van Bragt, J. J. M. H., Adcock, I. M., Bel, E. H. D., Braunstahl, G. -J., ten Brinke, A., Busby, J., Canonica, G. W., Cao, H., Chung, K. F., Csoma, Z., Dahlen, B., Davin, E., Hansen, S., Heffler, E., Horvath, I., Korn, S., Kots, M., Kuna, P., Kwon, N., Louis, R., Plaza, V., Porsbjerg, C., Ramos-Barbon, D., Richards, L. B., Skrgat, S., Sont, J. K., Vijverberg, S. J. H., Weersink, E. J. M., Yasinska, V., Wagers, S. S., Djukanovic, R., Maitland-Van der Zee, A. H., Abenhardt, B., Adler, J., Alfonso, R., Ali, R., Alkameh, S., Almonacid Sanchez, C., Alvares, L., Anderson, G., Assing, K., Ayre, S., Becker, J., Bergmann, K., Bieksiene, K., Bjerring, N., Blasi, F., Bloemen, P., Blum, H., Boing, S., Bonavia, M., Bossios, A., Bourdin, A., Brons, A., Brusselle, G., Buis, J., Caiaffa, M., Calabrese, C., Camiciottoli, G., Caruso, C., Castilla Martinez, M., Centanni, S., Cisneros Serrano, C., Corsico, A., Cosmi, L., Costantino, M., Costello, R., Crimi, N., Dahlen, S., D'Amato, M., Davies, D., de Borja Garcia-Cosio Piqueras, F., Decarlo, G., Deimling, A., Del Giacco, S., Diaz Campos, R., Djandji, M., Doberer, D., Dupont, L., Dyett, K., Edelbaher, N., Edelmann, M., Ehmann, R., Ekberg-Jansson, A., Farsi, A., Favero, E., Feimer, J., Fletcher, M., Foschino, B., Frankemolle, B., Gaga, M., Gappa, M., Garcia de Pedro, J., Garcia Rivero, J., Gasplmayr, M., Gebhardt, R., Geldmacher, H., Geltner, C., Gerstlauer, M., Gibson, T., Giuseppe, G., Gogoll, C., Grimm-Sachs, V., Grisle, I., Grun, B., Grunewaldt, A., Guarnieri, G., Gullon Blanco, J., Hamelmann, E., Hamerlijnck, D., Hammers-Reinhard, A., Hanon, S., Harzheim, D., Heaney, L., Hellmich, S., Herden, M., Hering, T., Herth, F., Hilberg, O., Howarth, P., Hubatsch, M., Humbert, M., Husemann, K., Idzko, M., Jackson, D., Jandl, M., Jaumont, X., Joos, G., Jost, M., Juch, M., Kabesch, M., Kaiser-Labusch, P., Kardos, P., Kassner, F., Keeley, T., Kerr, W., Kirschner, J., Klimek, L., Koca, M., Koczulla, R., Koerner-Rettberg, C., Kopac, P., Kronsbein, J., Kuprys Lipinska, I., Langer, M., Langeveld, B., Lantz, A., Lazarinis, N., Lazic, Z., Lehtimaki, L., Leuppi, J., Lombardi, C., Lommatzsch, M., Lopez-Vina, A., Luca, R., Ludviksdottir, D., Luttecke-Hecht, C., Macchia, L., Magni, T., Martinez Rivera, C., Mastoridis, P., Mazza, F., Menzella, F., Menzies-Gow, A., Michils, A., Mihalthan, F., Milanese, M., Milger-Kneidinger, K., Molinska, J., Montagna, I., Montuschi, P., Mulleneisen, N., Munoz Esquerre, M., Nanzer-Kelly, A., Nenasheva, N., Neurohr, C., Nucera, E., Otker, J., Oud, K., Paggiaro, P., Parente, R., Parkinson, J., Passalacqua, G., Patberg, N., Patella, V., Patino, O., Paulsson, T., Peche, R., Pelaia, G., Peress, E., Perez de Llano, L., Pfeffer, P., Pfister, P., Pilette, C., Pinedo Sierra, C., Pini, L., Powitz, F., Ranger, T., Rasmussen, L., Rasmussen, K., Rezelj, M., Ricciardi, L., Ricciardolo, F., Ridolo, E., Rijssenbeek-Nouwens, L., Rolla, G., Romero Ribate, D., Rudiger, S., Safioti, G., Sandstrom, T., Santus, P., Sauer, R., Schauerte, G., Schipmann, R., Schleich, F., Schmid, J., Schmidt, F., Schmidt, O., Schmitz, M., Schrag, T., Schroer, S., Schultz, K., Schulz, C., Scichilone, N., Sedlak, V., Selb, J., Senna, G., Sergejeva, S., Serrano Pariente, J., Sichau, M., Simona, D., Singer, A., Skowasch, D., Smeenk, F., Smith, S., Solidoro, P., Spadaro, G., Spanevello, A., Stefansdottir, M., Steinmetz, K., Steiss, J., Stephan, M., Stieglitz, S., Suhling, H., Taube, C., Tolga Yavuz, S., Tudoric, N., Ulrik, C., van de Ven, M., van den Elshout, F., van Dyke, M., van Nederveen-Bendien, S., van Veen, I., Vandenplas, O., Velthove, K., Vianello, A., Vogelberg, C., Wallen-Nielsen, E., Wisskirchen, T., Yacoub, M., Yancey, S., Zappa, M., Zielen, S., Zimmermann, C., Zimmermann, R., UCL - SSS/IREC/PNEU - Pôle de Pneumologie, ORL et Dermatologie, UCL - (MGD) Service de pneumologie, van Bragt J.J.M.H., Adcock I.M., Bel E.H.D., Braunstahl G.-J., ten Brinke A., Busby J., Canonica G.W., Cao H., Chung K.F., Csoma Z., Dahlen B., Davin E., Hansen S., Heffler E., Horvath I., Korn S., Kots M., Kuna P., Kwon N., Louis R., Plaza V., Porsbjerg C., Ramos-Barbon D., Richards L.B., Skrgat S., Sont J.K., Vijverberg S.J.H., Weersink E.J.M., Yasinska V., Wagers S.S., Djukanovic R., Maitland-Van der Zee A.H., Abenhardt B., Adler J., Alfonso R., Ali R., Alkameh S., Almonacid Sanchez C., Alvares L., Anderson G., Assing K., Ayre S., Becker J., Bergmann K., Bieksiene K., Bjerring N., Blasi F., Bloemen P., Blum H., Boing S., Bonavia M., Bossios A., Bourdin A., Brons A., Brusselle G., Buis J., Caiaffa M., Calabrese C., Camiciottoli G., Caruso C., Castilla Martinez M., Centanni S., Cisneros Serrano C., Corsico A., Cosmi L., Costantino M., Costello R., Crimi N., Dahlen S., D'Amato M., Davies D., de Borja Garcia-Cosio Piqueras F., Decarlo G., Deimling A., Del Giacco S., Diaz Campos R., Djandji M., Doberer D., Dupont L., Dyett K., Edelbaher N., Edelmann M., Ehmann R., Ekberg-Jansson A., Farsi A., Favero E., Feimer J., Fletcher M., Foschino B., Frankemolle B., Gaga M., Gappa M., Garcia de Pedro J., Garcia Rivero J., Gasplmayr M., Gebhardt R., Geldmacher H., Geltner C., Gerstlauer M., Gibson T., Giuseppe G., Gogoll C., Grimm-Sachs V., Grisle I., Grun B., Grunewaldt A., Guarnieri G., Gullon Blanco J., Hamelmann E., Hamerlijnck D., Hammers-Reinhard A., Hanon S., Harzheim D., Heaney L., Hellmich S., Herden M., Hering T., Herth F., Hilberg O., Howarth P., Hubatsch M., Humbert M., Husemann K., Idzko M., Jackson D., Jandl M., Jaumont X., Joos G., Jost M., Juch M., Kabesch M., Kaiser-Labusch P., Kardos P., Kassner F., Keeley T., Kerr W., Kirschner J., Klimek L., Koca M., Koczulla R., Koerner-Rettberg C., Kopac P., Kronsbein J., Kuprys Lipinska I., Langer M., Langeveld B., Lantz A., Lazarinis N., Lazic Z., Lehtimaki L., Leuppi J., Lombardi C., Lommatzsch M., Lopez-Vina A., Luca R., Ludviksdottir D., Luttecke-Hecht C., Macchia L., Magni T., Martinez Rivera C., Mastoridis P., Mazza F., Menzella F., Menzies-Gow A., Michils A., Mihalthan F., Milanese M., Milger-Kneidinger K., Molinska J., Montagna I., Montuschi P., Mulleneisen N., Munoz Esquerre M., Nanzer-Kelly A., Nenasheva N., Neurohr C., Nucera E., Otker J., Oud K., Paggiaro P., Parente R., Parkinson J., Passalacqua G., Patberg N., Patella V., Patino O., Paulsson T., Peche R., Pelaia G., Peress E., Perez de Llano L., Pfeffer P., Pfister P., Pilette C., Pinedo Sierra C., Pini L., Powitz F., Ranger T., Rasmussen L., Rasmussen K., Rezelj M., Ricciardi L., Ricciardolo F., Ridolo E., Rijssenbeek-Nouwens L., Rolla G., Romero Ribate D., Rudiger S., Safioti G., Sandstrom T., Santus P., Sauer R., Schauerte G., Schipmann R., Schleich F., Schmid J., Schmidt F., Schmidt O., Schmitz M., Schrag T., Schroer S., Schultz K., Schulz C., Scichilone N., Sedlak V., Selb J., Senna G., Sergejeva S., Serrano Pariente J., Sichau M., Simona D., Singer A., Skowasch D., Smeenk F., Smith S., Solidoro P., Spadaro G., Spanevello A., Stefansdottir M., Steinmetz K., Steiss J., Stephan M., Stieglitz S., Suhling H., Taube C., Tolga Yavuz S., Tudoric N., Ulrik C., van de Ven M., van den Elshout F., van Dyke M., van Nederveen-Bendien S., van Veen I., Vandenplas O., Velthove K., Vianello A., Vogelberg C., Wallen-Nielsen E., Wisskirchen T., Yacoub M., Yancey S., Zappa M., Zielen S., Zimmermann C., Zimmermann R., Amsterdam UMC, National Heart and Lung Institute [London] (NHLI), Imperial College London-Royal Brompton and Harefield NHS Foundation Trust, Department of Medical Microbiology and Infection Control, Franciscus Gasthuis & Vlietland, Kleiweg 500, 3045 PM, Rotterdam, The Netherlands., Medical Centre Leeuwarden, Queen's University [Belfast] (QUB), Humanitas University [Milan] (Hunimed), Novartis Pharmaceuticals Corporation, East Hanover, NJ, USA, Korányi National Institute of Pulmonology (OKPI), Karolinska University Hospital [Stockholm], The European Lung Foundation (ELF), Bispebjerg and Frederiksberg Hospitals, Humanitas Clinical and Research Center [Rozzano, Milan, Italy], University Medical Center of the Johannes Gutenberg-University Mainz, Chiesi Farmaceutici, Medical University of Łódź (MUL), GlaxoSmithKline, Brentford, Middlesex, Centre Hospitalier Universitaire de Liège (CHU-Liège), Hospital de la Santa Creu i Sant Pau, Copenhagen University Hospital, Respiratory and Allergic Diseases [Golnik, Slovenia], University Clinic of Respiratory and Allergic Diseases Golnik, Leiden University Medical Center (LUMC), Biosci Consulting, University Hospital Southampton NHS Foundation Trust, SHARP Clinical Research, Hôpital Arnaud de Villeneuve [CHRU Montpellier], and Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)

Subjects
Severe asthma, Pediatrics, MESH: Registries, MESH: Asthma, Cross-sectional study, Respiratory System, Medizin, [SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract, 0302 clinical medicine, MESH: Belgium, Belgium, Medicine research, Anti-Asthmatic Agents, Registries, 030212 general & internal medicine, [SDV.IMM.ALL]Life Sciences [q-bio]/Immunology/Allergology, 10. No inequality, 11 Medical and Health Sciences, Netherlands, 2. Zero hunger, education.field_of_study, SHARP CRC, MESH: Administration, Inhalation, MESH: Anti-Asthmatic Agents, 3. Good health, Europe, Italy, MESH: Poland, MESH: Sweden, medicine.drug, Pulmonary and Respiratory Medicine, medicine.medical_specialty, MESH: Hungary, Population, Investigació mèdica, Settore MED/10 - Malattie Dell'Apparato Respiratorio, 03 medical and health sciences, MESH: Cross-Sectional Studies, Administration, Inhalation, MESH: Spain, medicine, Humans, education, Asma, Retrospective Studies, Asthma, Sweden, Hungary, MESH: Humans, business.industry, Settore MED/09 - MEDICINA INTERNA, MESH: Italy, MESH: Retrospective Studies, Retrospective cohort study, Original Articles, asthma, medicine.disease, Clinical trial, Cross-Sectional Studies, Clinical research, 030228 respiratory system, Spain, MESH: Netherlands, MESH: Europe, Poland, business, Body mass index, Mepolizumab
Abstract

Little is known about the characteristics and treatments of patients with severe asthma across Europe, but both are likely to vary. This is the first study in the European Respiratory Society Severe Heterogeneous Asthma Research collaboration, Patient-centred (SHARP) Clinical Research Collaboration and it is designed to explore these variations. Therefore, we aimed to compare characteristics of patients in European severe asthma registries and treatments before starting biologicals.This was a cross-sectional retrospective analysis of aggregated data from 11 national severe asthma registries that joined SHARP with established patient databases.Analysis of data from 3236 patients showed many differences in characteristics and lifestyle factors. Current smokers ranged from 0% (Poland and Sweden) to 9.5% (Belgium), mean body mass index ranged from 26.2 (Italy) to 30.6 kg·m−2 (the UK) and the largest difference in mean pre-bronchodilator forced expiratory volume in 1 s % predicted was 20.9% (the Netherlands versus Hungary). Before starting biologicals patients were treated differently between countries: mean inhaled corticosteroid dose ranged from 700 to 1335 µg·day−1 between those from Slovenia versus Poland when starting anti-interleukin (IL)-5 antibody and from 772 to 1344 µg·day−1 in those starting anti-IgE (Slovenia versus Spain). Maintenance oral corticosteroid use ranged from 21.0% (Belgium) to 63.0% (Sweden) and from 9.1% (Denmark) to 56.1% (the UK) in patients starting anti-IL-5 and anti-IgE, respectively.The severe asthmatic population in Europe is heterogeneous and differs in both clinical characteristics and treatment, often appearing not to comply with the current European Respiratory Society/American Thoracic Society guidelines definition of severe asthma. Treatment regimens before starting biologicals were different from inclusion criteria in clinical trials and varied between countries.

Published
2019

14. Chikungunya: an unexpected emergence in Europe

Author

Fadila Amraoui, Anna-Bella Failloux, Arbovirus et Insectes Vecteurs - Arboviruses and Insect Vectors, Institut Pasteur [Paris], he work was supported by a grant FP7-HEALTH HEALTH.2011.2.3.3-2 (grant number: 282378) ‘Dengue research Framework for resisting epidemics in Europe’ (DENFREE)., European Project: 282378,EC:FP7:HEALTH,FP7-HEALTH-2011-single-stage,DENFREE(2012), and Institut Pasteur [Paris] (IP)

Subjects
0301 basic medicine, Aedes albopictus, viruses, MESH: Chikungunya Fever, Dengue virus, MESH: Disease Transmission, Infectious, medicine.disease_cause, Virus, 03 medical and health sciences, Aedes, Virology, Genotype, medicine, Disease Transmission, Infectious, MESH: Molecular Epidemiology, Animals, MESH: Animals, Chikungunya, Molecular Epidemiology, biology, Transmission (medicine), Outbreak, virus diseases, MESH: Italy, MESH: Chikungunya virus, MESH: Aedes, biology.organism_classification, 3. Good health, MESH: France, Autochthonous Transmission, 030104 developmental biology, Italy, [SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/Virology, Chikungunya Fever, France, Chikungunya virus
Abstract

International audience; Since the first outbreak of chikungunya in Italy in 2007, Europe has been facing an increase in local transmission of arboviral diseases. Dengue virus (DENV) and chikungunya virus (CHIKV) are both transmitted by the mosquito Aedes albopictus present in 20 European countries. CHIKV emergence in Europe was mainly associated with the East-Central-South African (ECSA) genotype, recently exemplified by the 11 CHIKV cases in southern France in 2014. Despite hundreds of travelers returning from the Americas where the Asian CHIKV genotype was responsible for more than one million cases, no autochthonous transmission associated with the Asian genotype was reported in Europe. Thus the pattern of transmission can be significantly different depending on the mosquito population, the virus genotype and environmental factors such as temperature.

Published
2016

15. Diversity patterns of uncultured Haptophytes unravelled by pyrosequencing in Naples Bay

Author

Bente Edvardsen, Ian Probert, Hiroyuki Ogata, Colomban de Vargas, Sébastien Santini, Angélique Gobet, Lucie Bittner, Stéphane Audic, Sarah Romac, Elianne Egge, Adaptation et diversité en milieu marin (AD2M), Station biologique de Roscoff [Roscoff] (SBR), Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS), Max Planck Institute for Biological Cybernetics, Max-Planck-Gesellschaft, Department of Biology [Oslo], Faculty of Mathematics and Natural Sciences [Oslo], University of Oslo (UiO)-University of Oslo (UiO), Information génomique et structurale (IGS), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Aix Marseille Université (AMU), and Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS)

Subjects
MESH: DNA Primers, 0106 biological sciences, MESH: Sequence Analysis, DNA, MESH: Mediterranean Sea, MESH: Genetics, Population, Haptophyta, DNA, Ribosomal, 010603 evolutionary biology, 01 natural sciences, Haptophyte, 03 medical and health sciences, symbols.namesake, Botany, Mediterranean Sea, MESH: Plankton, Genetics, MESH: Genetic Variation, 14. Life underwater, MESH: Phylogeny, Ribosomal DNA, Phylogeny, Ecology, Evolution, Behavior and Systematics, DNA Primers, 030304 developmental biology, [SDV.EE]Life Sciences [q-bio]/Ecology, environment, Sanger sequencing, 0303 health sciences, Deep chlorophyll maximum, Genetic diversity, MESH: DNA, Ribosomal, biology, Phylum, Genetic Variation, MESH: Italy, Sequence Analysis, DNA, Plankton, biology.organism_classification, Genetics, Population, Bays, Italy, Evolutionary biology, MESH: Bays, symbols, Pyrosequencing, MESH: Haptophyta
Abstract

International audience; Haptophytes are a key phylum of marine protists, including ~300 described morphospecies and 80 morphogenera. We used 454 pyrosequencing on large subunit ribosomal DNA (LSU rDNA) fragments to assess the diversity from size-fractioned plankton samples collected in the Bay of Naples. One group-specific primer set targeting the LSU rDNA D1/D2 region was designed to amplify Haptophyte sequences from nucleic acid extracts (total DNA or RNA) of two size fractions (0.8-3 or 3-20 μm) and two sampling depths [subsurface, at 1 m, or deep chlorophyll maximum (DCM) at 23 m]. 454 reads were identified using a database covering the entire Haptophyta diversity currently sequenced. Our data set revealed several hundreds of Haptophyte clusters. However, most of these clusters could not be linked to taxonomically known sequences: considering OTUs(97%) (clusters build at a sequence identity level of 97%) on our global data set, less than 1% of the reads clustered with sequences from cultures, and less than 12% clustered with reference sequences obtained previously from cloning and Sanger sequencing of environmental samples. Thus, we highlighted a large uncharacterized environmental genetic diversity, which clearly shows that currently cultivated species poorly reflect the actual diversity present in the natural environment. Haptophyte community appeared to be significantly structured according to the depth. The highest diversity and evenness were obtained in samples from the DCM, and samples from the large size fraction (3-20 μm) taken at the DCM shared a lower proportion of common OTUs(97%) with the other samples. Reads from the species Chrysoculter romboideus were notably found at the DCM, while they could be detected at the subsurface. The highest proportion of totally unknown OTUs(97%) was collected at the DCM in the smallest size fraction (0.8-3 μm). Overall, this study emphasized several technical and theoretical barriers inherent to the exploration of the large and largely unknown diversity of unicellular eukaryotes.

Published
2012

16. Do Arterial Hemodynamic Parameters Predict Cognitive Decline Over a Period of 2 Years in Individuals Older Than 80 Years Living in Nursing Homes? The PARTAGE Study

Author

Ghassan Watfa, Athanase Benetos, Anna Kearney-Schwartz, Carlos Labat, Sylvie Gautier, Olivier Hanon, Paolo Salvi, Laure Joly, Severine Buatois, Rachida Benelmir, Christine Perret-Guillaume, Alexandra Zervoudaki, Sara Capelli, Francesca Vaienti, Delphine Dubail, Francis Guillemin, Francesca Marino, Filippo Valbusa, Mauro Zamboni, Centres Mémoire de Ressources et de Recherche [CHRU Nancy] (CMRR de Lorraine), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Défaillance Cardiovasculaire Aiguë et Chronique (DCAC), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Service de Gériatrie, Université Paris Descartes - Paris 5 (UPD5)-Université Sorbonne Paris Cité (USPC)-AP-HP Groupe hospitalier Broca - La Rochefoucauld - La Collégiale (Paris), IRCCS Istituto Auxologico Italiano, Centres Mémoire de Ressources et de Recherche [CHRU Nancy], and Université de Lorraine (UL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)

Subjects
Male, Gerontology, Longitudinal study, Aging, 030204 cardiovascular system & hematology, MESH: Vascular Stiffness, "aging","arterial compliance","cognitive decline", Cohort Studies, 0302 clinical medicine, MESH: Aged, 80 and over, MESH: Cognitive Aging, Cognitive decline, 10. No inequality, Pulse wave velocity, MESH: Cohort Studies, General Nursing, Aged, 80 and over, 2. Zero hunger, education.field_of_study, Health Policy, "cognitive decline", Mini-Mental Status Examination, Arteries, General Medicine, arterial stiffness, Italy, Cohort, Female, France, Cohort study, MESH: Hemodynamics, "arterial compliance", Population, 03 medical and health sciences, Vascular Stiffness, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, medicine, "aging", Humans, education, MESH: Arteries, MESH: Humans, business.industry, Hemodynamics, MESH: Italy, medicine.disease, cognitive decline, MESH: Male, Nursing Homes, MESH: France, Blood pressure, Cognitive Aging, MESH: Nursing Homes, Arterial stiffness, Geriatrics and Gerontology, business, MESH: Female, 030217 neurology & neurosurgery
Abstract

International audience; OBJECTIVES:Several studies have highlighted a link between vascular alterations and cognitive decline. The PARTAGE study showed that arterial stiffness as evaluated by carotid-femoral pulse wave velocity (cfPWV) was associated with a more pronounced cognitive decline over a 1-year period in very old frail institutionalized individuals. The aim of the present analysis was to assess the role of hemodynamic parameters, such as blood pressure (BP), heart rate (HR), cfPWV, and central/peripheral pulse pressure amplification (PPA) on cognitive decline over 2 years in very old frail individuals.METHODS:A total of 682 individuals from the PARTAGE study cohort, aged older than 80 years (mean age at inclusion: 87.5 ± 5.0 years) and living in French and Italian nursing homes, were analyzed. Mini-Mental State Examination (MMSE) score was assessed at baseline (BL) and at the end of the first and second year of follow-up (2y-FU). Those with a decrease in MMSE of 3 or more points between BL and 2y-FU were considered as "decliners." The cfPWV and PPA at baseline were assessed with an arterial tonometer.RESULTS:After adjustment for baseline MMSE, HR, body mass index, age, education level, and activities of daily living (ADLs), cfPWV was higher and PPA lower in "decliners" compared with "nondecliners," whereas BP did not differ between the 2 groups. Logistic multivariate analysis also revealed that high cfPWV, low PPA, high HR, and low ADLs were all determinants of MMSE decline.CONCLUSION:This 2-year longitudinal study in very old institutionalized individuals shows that arterial stiffness and high HR enabled us to identify subjects at higher risk of cognitive decline, whereas BP alone did not appear to have a significant predictive value. These findings highlight the contribution of vascular determinants in cognitive decline even in this very old population.TRIAL REGISTRATION:ClinicalTrials.gov NCT00901355.

Published
2015

17. Treatment With Multiple Blood Pressure Medications, Achieved Blood Pressure, and Mortality in Older Nursing Home Residents

Author

Benetos, Athanase, Labat, Carlos, Rossignol, Patrick, Fay, Renaud, Rolland, Yves, Valbusa, Filippo, Salvi, Paolo, Zamboni, Mauro, Manckoundia, Patrick, Hanon, Olivier, Gautier, Sylvie, Défaillance Cardiovasculaire Aiguë et Chronique (DCAC), Université de Lorraine (UL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Service de Gériatrie [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Centre d'investigation clinique [Nancy] (CIC), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Centre d'investigation clinique plurithématique Pierre Drouin [Nancy] (CIC-P), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL)-Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Gérontopôle, Epidémiologie et analyses en santé publique : risques, maladies chroniques et handicaps (LEASP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse], Sacro Cuore Don Calabria Hospital, IRCCS Istituto Auxologico Italiano, University Hospital of Verona, Service de médecine gériatrique (CHU de Dijon - Centre gériatrique de Champmaillot - EHPAD), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Dpt Gériatrie [CHU Broca], AP-HP - Hôpital Cochin Broca Hôtel Dieu [Paris], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)

Subjects
MESH: Antihypertensive Agents, MESH: Humans, MESH: Mortality, MESH: Italy, MESH: Blood Pressure, MESH: Male, MESH: Hypertension, MESH: France, MESH: Drug Therapy, Combination, MESH: Aged, 80 and over, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, MESH: Longitudinal Studies, MESH: Inpatients, MESH: Female
Abstract

International audience; IMPORTANCE:Clinical evidence supports the beneficial effects of lowering blood pressure (BP) levels in community-living, robust, hypertensive individuals older than 80 years. However, observational studies in frail elderly patients have shown no or even an inverse relationship between BP and morbidity and mortality.OBJECTIVE:To assess all-cause mortality in institutionalized individuals older than 80 years according to systolic BP (SBP) levels and number of antihypertensive drugs.DESIGN, SETTING, AND PARTICIPANTS:This longitudinal study included elderly residents of nursing homes. The interaction between low (

Published
2015

18. Meningoencephalitis Due to Toscana Virus in a French Traveler Returning From Central Italy

Author

Philippe Bossi, Hervé Zeller, François Bricaire, Pierre Hausfater, Bruno Riou, Isabelle Schuffenecker, Loïc Epelboin, Service des maladies infectieuses et tropicales [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service des Urgences [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Biologie des Infections Virales Émergentes - Biology of Emerging Viral Infections (UBIVE), Centre International de Recherche en Infectiologie - UMR (CIRI), École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure - Lyon (ENS Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut Pasteur [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre International de Recherche en Infectiologie (CIRI), École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), and Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut Pasteur [Paris] (IP)

Subjects
Male, MESH: Sandfly fever Naples virus, Antibodies, Viral, 0302 clinical medicine, Meningoencephalitis, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Phlebotomus Fever, Travel medicine, 030212 general & internal medicine, Phlebotomus, MESH: Travel, MESH: Aged, MESH: Immunoglobulin G, Travel, 0303 health sciences, biology, MESH: Meningitis, Viral, General Medicine, Meningitis, Viral, MESH: Immunoglobulin M, 3. Good health, Italy, France, Meningitis, Encephalitis, medicine.medical_specialty, MESH: Phlebotomus Fever, 03 medical and health sciences, stomatognathic system, parasitic diseases, medicine, Humans, MESH: Meningoencephalitis, Aged, MESH: Humans, 030306 microbiology, Toscana virus, business.industry, MESH: Italy, Sandfly fever Naples virus, biology.organism_classification, medicine.disease, Virology, MESH: Male, MESH: France, Immunoglobulin M, Immunoglobulin G, Immunology, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, business, MESH: Antibodies, Viral
Abstract

International audience; Toscana virus (TOSV) is an arthropod-borne virus transmitted by sand flies of Phlebotomus species that has been recognized as an agent associated with acute meningitis and encephalitis around the Mediterranean. We report the first imported case of meningoencephalitis due to TOSV in a traveler returning from Central Italy to France.

Published
2008

19. Divergent effects of the T1174S SCN1A mutation associated with seizures and hemiplegic migraine

Author

Cestèle, Sandrine, Cestele, Sandrine, Labate, Angelo, Rusconi, Raffaella, Tarantino, Patrizia, Mumoli, Laura, Franceschetti, Silvana, Annesi, Grazia, Mantegazza, Massimo, Gambardella, Antonio, Institut de pharmacologie moléculaire et cellulaire (IPMC), Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Centre National de la Recherche Scientifique (CNRS), Institute of Neurology, Università degli Studi 'Magna Graecia' di Catanzaro [Catanzaro, Italie] (UMG), Institute of Neurological Sciences, National Research Council [Italy] (CNR), Department of Neurophysiopathology, IRCCS, Université Côte d'Azur, CNRS, UMR 7275, Institut de Pharmacologie Moléculaire et Cellulaire, Sophia Antipolis, Ingénierie des protéines (IP), Université de la Méditerranée - Aix-Marseille 2-Centre National de la Recherche Scientifique (CNRS), University of Catanzaro, Regional Epilepsy Center, Reggio Calabria, Instituco Neurologico C. Besta, Instituto Neurologico C. Besta, Besta Neurological Institute, and Université Nice Sophia Antipolis (1965 - 2019) (UNS)

Subjects
Male, Models, Molecular, Threonine, Patch-Clamp Techniques, [SDV]Life Sciences [q-bio], DNA Mutational Analysis, Migraine with Aura, Membrane Potentials, Epilepsy, 0302 clinical medicine, Serine, MESH: Threonine, MESH: DNA Mutational Analysis, ComputingMilieux_MISCELLANEOUS, Cell Line, Transformed, 0303 health sciences, MESH: Middle Aged, Sodium channel, MESH: Electric Stimulation, Middle Aged, MESH: Seizures, Phenotype, Electrophysiology, MESH: NAV1.1 Voltage-Gated Sodium Channel, Neurology, Italy, MESH: Young Adult, Hemiplegic migraine, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Female, MESH: Models, Molecular, Adult, MESH: Mutation, Adolescent, Febrile seizures, Biology, MESH: Phenotype, 03 medical and health sciences, Young Adult, MESH: Computer Simulation, Seizures, MESH: Patch-Clamp Techniques, medicine, MESH: Membrane Potentials, Humans, Computer Simulation, Patch clamp, MESH: Serine, MESH: Cell Line, Transformed, Loss function, Migraine, MESH: Migraine with Aura, 030304 developmental biology, MESH: Adolescent, MESH: Humans, MESH: Italy, MESH: Adult, medicine.disease, MESH: Male, Electric Stimulation, NAV1.1 Voltage-Gated Sodium Channel, INAP, Mutation, Neurology (clinical), Neuroscience, MESH: Female, 030217 neurology & neurosurgery
Abstract

International audience; PURPOSE: To report the identification of the T1174S SCN1A (NaV 1.1) mutation in a three-generation family with both epileptic and familial hemiplegic migraine (FHM) phenotypes and clarify the pathomechanism. METHODS: The five affected individuals underwent detailed clinical analyses. Mutation analyses was performed by direct sequencing of SCN1A; functional studies by expression in tsA-201 cells. A computational model was used to compare the effects of T1174S with those of a typical FHM mutation (Q1489K). KEY FINDINGS: The proband had benign occipital epilepsy (BOE); two relatives had simple febrile seizures (FS) and later developed BOE. Two additional relatives had FHM without epilepsy or FS. All affected members and one obliged carrier carried the T1174S mutation. Functional effects were divergent: positive shift of the activation curve and deceleration of recovery from fast inactivation, consistent with loss of function, and increase of persistent current (I(NaP)), consistent with gain of function. The I(NaP) increase was inhibited by dialysis of the cytoplasm, consistent with a modulation. Therefore, as shown by the computational model, T1174S could in some conditions induce overall loss of function, and in others gain of function; Q1489K induced gain of function in all the conditions. SIGNIFICANCE: Modulation of the properties of T1174S can lead to a switch between overall gain and loss of function, consistent with a switch between promigraine end epileptogenic effect and, thus, with coexistence of epileptic and FHM phenotypes in the same family. These findings may help to shed light on the complex genotype-phenotype relationship of SCN1A mutations.

Published
2013

20. Correlation Between Peripheral Blood Pressure and Pulse-Wave Velocity Values in the Institutionalized Elderly Persons 80 Years of Age and Older: The PARTAGE Study

Author

Christine Perret-Guillaume, Marie Line Erpelding, François Alla, Paolo Salvi, Darko Miljkovic, Athanase Benetos, Maladies chroniques, santé perçue, et processus d'adaptation (APEMAC), Université Paris Descartes - Paris 5 (UPD5)-Université de Lorraine (UL), Service de Gériatrie [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Centre d'investigation clinique - Epidémiologie clinique [Nancy] (CIC-EC), Centre d'investigation clinique [Nancy] (CIC), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL)-Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Défaillance Cardiovasculaire Aiguë et Chronique (DCAC), Université de Lorraine (UL)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Centre d'Epidémiologie Clinique (CIC-EC), and Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
Male, Activities of daily living, Blood Pressure, 030204 cardiovascular system & hematology, MESH: Vascular Stiffness, Cohort Studies, 0302 clinical medicine, MESH: Aged, 80 and over, Risk Factors, MESH: Risk Factors, 030212 general & internal medicine, Longitudinal Studies, Prospective Studies, Prospective cohort study, MESH: Longitudinal Studies, Pulse wave velocity, MESH: Cohort Studies, Aged, 80 and over, MESH: Pulse Wave Analysis, Age Factors, MESH: Blood Pressure, MESH: Predictive Value of Tests, 3. Good health, Pulse pressure, Femoral Artery, Carotid Arteries, Italy, Cardiovascular Diseases, Predictive value of tests, Cardiology, Female, France, Cohort study, circulatory and respiratory physiology, MESH: Femoral Artery, medicine.medical_specialty, Pulse Wave Analysis, 03 medical and health sciences, Sex Factors, Vascular Stiffness, MESH: Sex Factors, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Predictive Value of Tests, Internal medicine, Internal Medicine, medicine, Humans, cardiovascular diseases, Antihypertensive Agents, MESH: Age Factors, MESH: Antihypertensive Agents, MESH: Humans, MESH: Carotid Arteries, business.industry, MESH: Italy, MESH: Cardiovascular Diseases, medicine.disease, MESH: Male, MESH: Prospective Studies, Nursing Homes, MESH: France, Blood pressure, MESH: Nursing Homes, Physical therapy, Arterial stiffness, business, MESH: Female
Abstract

International audience; BACKGROUND:Carotid-femoral pulse-wave velocity (PWV) provides a comprehensive noninvasive indication of arterial stiffness, and is now established as a strong marker of cardiovascular disease (CVD). The correlation between peripheral blood pressure (BP) and PWV and their respective influences on mortality have been poorly studied in the elderly. Our objective was to analyze this correlation in nursing-home residents over 80 years of age, with the view that the results of this could ultimately be helpful in implementing strategies for the diagnosis and long-term follow-up of CVD and mortality in the very elderly population.METHODS:The Predictive Value of Blood Pressure and Arterial Stiffness in Institutionalized Very Aged Population (PARTAGE) study is a 2-year cohort study of 1,130 subjects living in 72 nursing homes in France and Italy. The correlation between baseline systolic and diastolic blood pressure (SBP and DBP, respectively) and baseline PWV (measured with a PulsePen® tonometer) was studied in 1,071 subjects for whom PWV measurements were available.RESULTS:Correlations between peripheral BP and PWV were significant but weak, with r = 0.24 for self-measured SBP, r = 0.30 for casual SBP, r = 0.11 for self-measured DBP, r = 0.14 for casual DBP, and r = 0.26 for casual pulse pressure (PP). A trend toward a weaker correlation was observed in the older age group for self-measured SBP and in the group with a lower level of activities of daily living (ADL) for self-measured SBP and DBP.CONCLUSIONS:These findings suggest that SBP, DBP, and PWV provide different information in the very elderly. The results of the prospective, longitudinal, long-term PARTAGE study will allow further insight into this and provide additional in-depth information about the respective prognostic value of the measurement of peripheral BP and PWV.

Published
2013

21. Inter-laboratory exercise on antibiotic drugs analysis in aqueous samples

Author

J. Leveque, Axelle Cadiere, Bernoit Roig, Olivier Thomas, S. Mompelat, Marine Brogat, Laboratoire d'étude et de recherche en environnement et santé (LERES), École des Hautes Études en Santé Publique [EHESP] (EHESP), EU FP7 project PHARMAS (contract no. 265346), Institut de recherche en santé, environnement et travail (Irset), and Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )

Subjects
Canada, Coefficient of variation, 0207 environmental engineering, Fresh Water, Sample (statistics), 02 engineering and technology, 010501 environmental sciences, MESH: Observer Variation, 01 natural sciences, Standard deviation, Analytical Chemistry, Matrix (chemical analysis), Inter-laboratory, Tap water, MESH: Canada, MESH: Anti-Bacterial Agents, Statistics, Humans, Drinking water, 020701 environmental engineering, Netherlands, 0105 earth and related environmental sciences, Observer Variation, Box plot, MESH: Humans, Portugal, Chemistry, Antibiotic, MESH: Italy, Surface water, Confidence interval, Anti-Bacterial Agents, 3. Good health, MESH: France, MESH: Portugal, MESH: Water Pollutants, Chemical, [SDV.MP]Life Sciences [q-bio]/Microbiology and Parasitology, Italy, Outlier, MESH: Fresh Water, MESH: Netherlands, MESH: Laboratories, France, Laboratories, MESH: Drinking Water, MESH: Environmental Monitoring, Water Pollutants, Chemical, Environmental Monitoring
Abstract

International audience; An inter-laboratory exercise was organized under the PHARMAS EU project, by the Advanced School of Public Health (EHESP), in order to evaluate the performances of analytical methods for the measurement of antibiotics in waters (surface and tap). This is the first time such an exercise on antibiotics has been organized in Europe, using different kinds of analytical methods and devices. In this exercise thirteen laboratories from five countries (Canada, France, Italy, the Netherlands and Portugal) participated, and a total number of 78 samples were distributed. During the exercise, 2 testing samples (3 bottles of each) prepared from tap water and river water, respectively, spiked with antibiotics, were sent to participants and analyzed over a period of one month. A final number of 77 (98.7%) testing samples were considered. Depending on substances studied by each participant, 305 values in duplicate were collected, with the results for each sample being expressed as the target concentration. A statistical study was initiated using 611 results. The mean value, standard deviation, coefficient of variation, standard uncertainty of the mean, median, the minimum and maximum values of each series as well as the 95% confidence interval were obtained from each participant laboratory. In this exercise, 36 results (6% of accounted values) were outliers according to the distribution over the median (box plot). The outlier results were excluded. In order to establish the stability of testing samples in the course of the exercise, differences between variances obtained for every type of sample at different intervals were evaluated. The results showed no representative variations and it can be considered that all samples were stable during the exercise. The goals of this inter-laboratory study were to assess results variability when analysis is conducted by different laboratories, to evaluate the influence of different matrix samples, and to determine the rate at which participating laboratories successfully completed the tests initiated.

Published
2012

22. Molecular subtyping of Blastocystis sp. isolates from symptomatic patients in Italy

Author

Giovanna Sanciu, David Di Cave, Hicham El Alaoui, Frédéric Delbac, Dionigia Meloni, Philippe Poirier, Magali Chabé, Eduardo Dei-Cas, Eric Viscogliosi, Pier Luigi Fiori, Laurence Delhaes, Centre d’Infection et d’Immunité de Lille - INSERM U 1019 - UMR 9017 - UMR 8204 (CIIL), Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Centre National de la Recherche Scientifique (CNRS), Center for Biotechnology Development and Biodiversity Research, Università degli Studi di Sassari = University of Sassari [Sassari] (UNISS), Laboratoire Microorganismes : Génome et Environnement (LMGE), Université Blaise Pascal - Clermont-Ferrand 2 (UBP)-Université d'Auvergne - Clermont-Ferrand I (UdA)-Centre National de la Recherche Scientifique (CNRS), Università degli Studi di Roma Tor Vergata [Roma], Centre National de la Recherche Scientifique (CNRS)-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Université de Lille-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), University of Sassari, and Department of Public Health and Cell Biology, University of Rome Tor Vergata, Via Montpellier 1, 00133 Rome, Italy

Subjects
Male, Veterinary medicine, MESH: Sequence Analysis, DNA, 18S, Blastocystis Infections, 030308 mycology & parasitology, MESH: Genotype, 0302 clinical medicine, Medical microbiology, MESH: Aged, 80 and over, MESH: Blastocystis Infections, MESH: Child, Genotype, 80 and over, Cluster Analysis, Parasite hosting, MESH: Animals, rRNA, Child, MESH: Phylogeny, Phylogeny, Aged, 80 and over, MESH: Aged, 0303 health sciences, MESH: DNA, Ribosomal, MESH: Middle Aged, Settore VET/06 - Parassitologia e Malattie Parassitarie degli Animali, MESH: Molecular Typing, Transmission (medicine), General Medicine, Middle Aged, Subtyping, 3. Good health, Infectious Diseases, Italy, MESH: Young Adult, Adolescent, Adult, Aged, Animals, Blastocystis, DNA, Protozoan, DNA, Ribosomal, Female, Genes, rRNA, Humans, Molecular Sequence Data, RNA, Protozoan, RNA, Ribosomal, 18S, Sequence Analysis, DNA, Young Adult, Molecular Typing, Protozoan, MESH: RNA, Protozoan, Sequence Analysis, MESH: Blastocystis, medicine.medical_specialty, Sequence analysis, 030231 tropical medicine, MESH: DNA, Protozoan, Biology, 03 medical and health sciences, MESH: Genes, rRNA, medicine, [SDV.MP.PAR]Life Sciences [q-bio]/Microbiology and Parasitology/Parasitology, Ribosomal, MESH: Adolescent, MESH: Molecular Sequence Data, MESH: Humans, General Veterinary, MESH: Italy, MESH: Adult, DNA, Ribosomal RNA, Virology, MESH: Cluster Analysis, MESH: Male, MESH: RNA, Ribosomal, 18S, Genes, Parasitology, Insect Science, RNA, MESH: Female
Abstract

International audience; Blastocystis sp. is the most common eukaryotic parasite in the intestinal tract of humans. Due to its potential impact in public health, we determined the Blastocystis sp. subtypes (STs) and their relative frequency in symptomatic patients living in or in the vicinity of two Italian cities (Rome and Sassari). A total of 34 Blastocystis sp. isolates corresponding to 26 single and 4 mixed infections were subtyped using partial small subunit ribosomal RNA gene sequencing. From this molecular approach, the ST distribution in the present Italian population was as follows: ST3 (47.1%), ST2 (20.6%), ST4 (17.7%), ST1 (8.8%), and ST7, and ST8 (2.9%). As in almost all countries worldwide, ST3 was the most common ST reinforcing the hypothesis of its human origin. Together with a previous preliminary report, a total of seven STs (with the addition of ST5) have been found in Italian symptomatic patients. The wide range of STs identified in the Italian population suggest that Blastocystis sp. infection is not associated with specific STs even if some STs (ST1-ST4) are predominant as reported in all other countries. Since most of the STs identified in Italian patients are zoonotic, our data raise crucial questions concerning the identification of animal reservoirs for Blastocystis sp. and the potential risks of transmission to humans.

Published
2011

23. Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis

Author

Valeria Riccieri, László Czirják, Yannick Allanore, Jean-Luc Cracowski, Catherine Boileau, Inga Melchers, H.-Erich Wichmann, Jean-Charles Lambert, Oliver Meyer, Julien Wipff, Mohamad Saad, Jörg H W Distler, Luc Mouthon, Anne Marie Dupuy, Costanza Conti, Martina Müller, Nicolas Hunzelmann, Maria Martinez, Marco Matucci-Cerinic, Elisabeth Diot, Ulf Müller-Ladner, Paola Caramaschi, Otylia Kowal-Bielecka, André Kahan, Erika Salvi, G. Riemekasten, Arnold Munnich, Paolo Airò, Luc Letenneur, Eric Hachulla, Kiet Tiev, Barbara Ruiz, Daniele Cusi, Jérôme Avouac, Nemanja Damjanov, Philippe Dieudé, Gabriele Valentini, Philippe Amouyel, Service de rhumatologie [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de Physiopathologie Toulouse Purpan (CPTP), Université Toulouse III - Paul Sabatier (UT3), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de Rhumatologie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-PRES Sorbonne Paris Cité, Immunopathologie rénale, récepteurs et inflammation, Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Internal Medicine 3, Institute for Clinical Immunology Erlangen-Nuremberg, Epidémiologie des maladies chroniques : impact des interactions gène environnement sur la santé des populations, Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Droit et Santé, Departments of Medicine, Biomedicine & Rheumatology, Università degli Studi di Firenze = University of Florence (UniFI)-Division of Rheumatology AOUC - Denothe Centre, Department of Rheumatology and Clinical Immunology, Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Rheumatology and Clinical Immunology, Spedali Civili, Clinical Research Unit for Rheumatology, Universitäts Klinikum Freiburg = University Medical Center Freiburg (Uniklinik), Service de médecine interne, Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Department of Medicine, Surgery, and Dentistry, University of Milano, Genomics and Bioinformatics Platform, Fondazione Filarete, Institute of Medical Informatics, Biometry, and Epidemiology, Ludwig-Maximilians-Universität München (LMU)-Chair of Epidemiology, Institute of Epidemiology I, Helmholtz Zentrum München = German Research Center for Environmental Health, Department of Dermatology, University of Cologne, CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Rheumatology Unit, Università degli studi di Verona = University of Verona (UNIVR), Pathologies Respiratoires : Protéolyse et Aérosolthérapie, Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Rheumatology and Internal Medicine, Medical University of Białystok (MUB), Department of Clinical and Experimental Medicine, University of Naples Federico II = Università degli studi di Napoli Federico II, Service de médecine interne et centre de référence des maladies rares [CHU Cochin], Department of Immunology and Rheumatology, University of Pecs, Institute of Rheumatology, University of Belgrade [Belgrade], Kos Genetic SRL, Institute of Genetic Epidemiology, Justus-Liebig-Universität Gießen = Justus Liebig University (JLU), Division of Rheumatology, Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome] (UNIROMA), Centre d'Investigation Clinique [Grenoble] (CIC Grenoble), Université Joseph Fourier - Grenoble 1 (UJF)-CHU Grenoble-Hôpital Michallon-Institut National de la Santé et de la Recherche Médicale (INSERM), Epidémiologie et Biostatistique [Bordeaux], Université Bordeaux Segalen - Bordeaux 2-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), Neuropsychiatrie : recherche épidémiologique et clinique (PSNREC), Université Montpellier 1 (UM1)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Service de biochimie, d'hormonologie et de génétique moléculaire [CHU Amrboise Paré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Ambroise Paré [AP-HP], This project was funded by Agence Nationale pour la Recherche (Project ANR-08-GENO-016-1) and supported by research grants from SERVIER research group, SANOFI-AVENTIS, Association des Sclérodermies de France, and Groupe Français de Recherche sur la Sclérodermie. The KORA (Cooperative health research in the Region of Augsburg) studies were financed by the Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany, and supported by grants from the German Federal Ministry of Education and Research (BMBF) and by the State of Bavaria. Part of this work was financed by the German National Genome Research Network (NGFN). This research was supported within the Munich Center of Health Sciences (MC Health) as part of LMUinnovativ. HYPERGENES (European Network for Genetic-Epidemiological Studies) is funded by EU within the FP7: HEALTH-F4-2007-201550., European Project: 201550,EC:FP7:HEALTH,FP7-HEALTH-2007-A,HYPERGENES(2008), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-PRES Sorbonne Paris Cité, Division of Rheumatology AOUC - Denothe Centre-Università degli Studi di Firenze = University of Florence [Firenze] (UNIFI), Freiburg University Medical Center, German Research Center for Environmental Health-Helmholtz-Zentrum München (HZM), Service de médecine interne [Saint-Antoine], Université Pierre et Marie Curie - Paris 6 (UPMC)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Saint-Antoine [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), University of Verona (UNIVR), Université de Tours-Institut National de la Santé et de la Recherche Médicale (INSERM), Medical University of Bialystok, University of Naples Federico II, German Research Center for Environmental Health, Justus-Liebig-Universität Gießen (JLU), Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome], Université Montpellier 1 (UM1)-Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Università degli Studi di Firenze = University of Florence [Firenze] (UNIFI)-Division of Rheumatology AOUC - Denothe Centre, Allanore, Y, Saad, M, Dieudé, P, Avouac, J, Distler, Jh, Amouyel, P, MATUCCI CERINIC, M, Riemekasten, G, Airo, P, Melchers, I, Hachulla, E, Cusi, D, Wichmann, He, Wipff, J, Lambert, Jc, Hunzelmann, N, Tiev, K, Caramaschi, P, Diot, E, KOWAL BIELECKA, O, Valentini, Gabriele, Mouthon, L, Czirják, L, Damjanov, N, Salvi, E, Conti, C, Müller, M, MÜLLER LADNER, U, Riccieri, V, Ruiz, B, Cracowski, Jl, Letenneur, L, Dupuy, Am, Meyer, O, Kahan, A, Munnich, A, Boileau, C, Martinez, M., Autard, Delphine, European Network for Genetic-Epidemiological Studies: building a method to dissect complex genetic traits, using essential hypertension as a disease model - HYPERGENES - - EC:FP7:HEALTH2008-01-01 - 2011-12-31 - 201550 - VALID, and Service de médecine interne [CHU Saint-Antoine]

Subjects
Male, Cancer Research, Linkage disequilibrium, Epidemiology, systemic sclerosis, RHOB, Genome-wide association study, [SDV.GEN] Life Sciences [q-bio]/Genetics, Linkage Disequilibrium, MESH: Scleroderma, Systemic, Scleroderma, Major Histocompatibility Complex, Disease Mapping, TNIP1 locus, 0302 clinical medicine, Germany, Genetics of the Immune System, HLA-DQ beta-Chains, MESH: Proteins, Connective Tissue Diseases, rhoB GTP-Binding Protein, Genetics (clinical), Genetics, 0303 health sciences, MESH: Polymorphism, Single Nucleotide, MESH: Genetic Predisposition to Disease, MESH: Case-Control Studies, 3. Good health, DNA-Binding Proteins, Europe, Italy, MESH: Linkage Disequilibrium, Genetic Epidemiology, Medicine, Cytokines, Female, Inflammatory and Psoriatic Arthritis, France, Research Article, Adult, lcsh:QH426-470, Medizinische Fakultät -ohne weitere Spezifikation, Rheumatoid Arthritis, Single-nucleotide polymorphism, Locus (genetics), Biology, Systemic Lupus Erythematosus, Polymorphism, Single Nucleotide, Autoimmune Diseases, 03 medical and health sciences, MESH: Major Histocompatibility Complex, Rheumatology, RhoB GTP-Binding Protein, functional polymorphism, extracellular-matrix, association, scleroderma, population, disease, susceptibility, fibrosis, receptor, stat4, Psoriasis, Humans, SNP, Genetic Predisposition to Disease, genome-wide scan, ddc:610, Molecular Biology, MESH: Germany, Ecology, Evolution, Behavior and Systematics, 030304 developmental biology, Genetic association, MESH: rhoB GTP-Binding Protein, 030203 arthritis & rheumatology, [SDV.GEN]Life Sciences [q-bio]/Genetics, Scleroderma, Systemic, MESH: Humans, Proteins, MESH: Italy, MESH: Adult, MESH: HLA-DQ beta-Chains, MESH: Male, MESH: France, lcsh:Genetics, Immune System, Case-Control Studies, Immunology, MESH: Genome-Wide Association Study, Clinical Immunology, MESH: Europe, MESH: Female, MESH: DNA-Binding Proteins, Genome-Wide Association Study
Abstract

Systemic sclerosis (SSc) is an orphan, complex, inflammatory disease affecting the immune system and connective tissue. SSc stands out as a severely incapacitating and life-threatening inflammatory rheumatic disease, with a largely unknown pathogenesis. We have designed a two-stage genome-wide association study of SSc using case-control samples from France, Italy, Germany, and Northern Europe. The initial genome-wide scan was conducted in a French post quality-control sample of 564 cases and 1,776 controls, using almost 500 K SNPs. Two SNPs from the MHC region, together with the 6 loci outside MHC having at least one SNP with a P, Author Summary Systemic sclerosis (SSc) is a connective tissue disease characterized by generalized microangiopathy, severe immunologic alterations, and massive deposits of matrix components in the connective tissue. Epidemiological investigations indicate that SSc follows a pattern of multifactorial inheritance; however, only a few loci have been replicated in multiple studies. We undertook a two-stage genome-wide association study of SSc involving over 8,800 individuals of European ancestry. Combined analyses showed independent association at the known HLA-DQB1 region and revealed associations at PSORS1C1, TNIP1, and RHOB loci, in agreement with a strong immune genetic component. Because of its biological relevance, and previous reports of genetic association at this locus with other connective tissue disorders, we investigated TNIP1 expression. We observed a markedly reduced expression of the gene and its protein product in SSc, as well as its potential implication in control of extra-cellular matrix synthesis, providing a new clue for a link between inflammation/immunity and fibrosis.

Published
2011

24. Archaeal populations in hypersaline sediments underlying orange microbial mats in the Napoli mud volcano

Author

Patricia Pignet, Cassandre Sara Lazar, Laurent Toffin, Stéphane L'Haridon, Laboratoire de microbiologie des environnements extrêmophiles (LM2E), and Centre National de la Recherche Scientifique (CNRS)-Université de Brest (UBO)-Institut Français de Recherche pour l'Exploitation de la Mer (IFREMER)

Subjects
Geologic Sediments, MESH: Sequence Analysis, DNA, Molecular Sequence Data, Geochemistry, Biology, Brine pool, Applied Microbiology and Biotechnology, DNA, Ribosomal, MESH: Biodiversity, Microbial Ecology, 03 medical and health sciences, RNA, Ribosomal, 16S, Cluster Analysis, 14. Life underwater, Microbial mat, MESH: Oxidoreductases, MESH: Phylogeny, Phylogeny, 030304 developmental biology, 0303 health sciences, MESH: DNA, Ribosomal, MESH: Molecular Sequence Data, Ecology, 030306 microbiology, MESH: DNA, Archaeal, MESH: Italy, Biodiversity, Sequence Analysis, DNA, MESH: Geologic Sediments, biology.organism_classification, Archaea, MESH: Cluster Analysis, Cold seep, MESH: RNA, Ribosomal, 16S, DNA, Archaeal, [SDV.MP]Life Sciences [q-bio]/Microbiology and Parasitology, Italy, Benthic zone, MESH: Archaea, Anaerobic oxidation of methane, MESH: Methane, Oxidoreductases, Methane, Food Science, Biotechnology, Mud volcano
Abstract

Microbial mats in marine cold seeps are known to be associated with ascending sulfide- and methane-rich fluids. Hence, they could be visible indicators of anaerobic oxidation of methane (AOM) and methane cycling processes in underlying sediments. The Napoli mud volcano is situated in the Olimpi Area that lies on saline deposits; from there, brine fluids migrate upward to the seafloor. Sediments associated with a brine pool and microbial orange mats of the Napoli mud volcano were recovered during the Medeco cruise. Based on analysis of RNA-derived sequences, the “active” archaeal community was composed of many uncultured lineages, such as rice cluster V or marine benthic group D. Function methyl coenzyme M reductase ( mcrA ) genes were affiliated with the anaerobic methanotrophic Archaea (ANME) of the ANME-1, ANME-2a, and ANME-2c groups, suggesting that AOM occurred in these sediment layers. Enrichment cultures showed the presence of viable marine methylotrophic Methanococcoides in shallow sediment layers. Thus, the archaeal community diversity seems to show that active methane cycling took place in the hypersaline microbial mat-associated sediments of the Napoli mud volcano.

Published
2011

25. Influence of previous tuberculin skin test on serial IFN-γ release assays

Author

Claudio Maria Mastroianni, Raffaella Rossi, Fabio Mengoni, Miriam Lichtner, Ilaria Sauzullo, Camilla Ajassa, Vincenzo Vullo, Anna Paola Massetti, Department of Public Health and Infectious Diseases, Institut Pasteur, Fondation Cenci Bolognetti - Istituto Pasteur Italia, Fondazione Cenci Bolognetti, and Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome]

Subjects
MESH: Mycobacterium bovis, Male, Pathology, MESH: Mycobacterium tuberculosis, quantiferon-tb gold in-tube, 0302 clinical medicine, igra, MESH: Tuberculosis, 030212 general & internal medicine, Prospective Studies, Prospective cohort study, MESH: Aged, Mycobacterium bovis, MESH: Middle Aged, biology, Skin test, Middle Aged, 3. Good health, serial testing, Infectious Diseases, [SDV.MP]Life Sciences [q-bio]/Microbiology and Parasitology, Italy, MESH: Young Adult, Female, Interferon-gamma Release Tests, Microbiology (medical), Adult, medicine.medical_specialty, Tuberculosis, MESH: Interferon-gamma, 030231 tropical medicine, Immunology, Tuberculin, tuberculosis, tst, MESH: Interferon-gamma Release Tests, Microbiology, Mycobacterium tuberculosis, 03 medical and health sciences, Interferon-gamma, Young Adult, Antigen, medicine, Humans, Aged, MESH: Humans, business.industry, Tuberculin Test, MESH: Italy, MESH: Adult, medicine.disease, biology.organism_classification, bacterial infections and mycoses, MESH: Male, MESH: Prospective Studies, MESH: Tuberculin Test, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, business, MESH: Female
Abstract

International audience; Tuberculin skin test (TST) and interferon-γ release assays (IGRAs) have been proposed for serial testing in tuberculosis. In the present study, we assessed the effect of TST on subsequent QuantiFERON-TB Gold In-Tube (QFT-GIT) results by monitoring the evolution of responses during a follow-up period of 6 weeks. One hundred and two subjects were initially tested with QFT-GIT and subsequently with TST; then the QFT-GIT was performed serially 1, 2, 4, and 6 weeks after the TST. A subgroup of 40 subjects was also assessed by older version of the QuantiFERON-TB Gold (QFT-G) assay. The results showed no significant variation in IFN-γ response over time in the tested patients, although two TST-positive subjects showed evidence of possible boosting effect. In addition, a direct comparison between the QFT-G and QFT-GIT test showed no significant differences at any time point with excellent agreement between two tests. No significant differences were seen in IFN-γ responses between BCG-unvaccinated and BCG-vaccinated patients at each time point. In conclusion, our findings indicate that TST does not influence the outcome of subsequent IGRAs testing in individuals with negative TST results, but it can boost the IFN-γ response in subjects sensitized to TB antigens and not detected by IGRA.

Published
2010

26. Are Aedes albopictus or other mosquito species from northern Italy competent to sustain new arboviral outbreaks?

Author

A. Talbalaghi, Marie Vazeille, Anna-Bella Failloux, Sara Moutailler, Mosquito Control District of Alessandria, Génétique Moléculaire des Bunyavirus, Institut Pasteur [Paris] (IP), This work was supported by the Institut Pasteur, Paris., and Institut Pasteur [Paris]

Subjects
viruses, MESH: Dengue, Dengue virus, medicine.disease_cause, MESH: Dengue Virus, Dengue fever, Disease Outbreaks, Dengue, 0302 clinical medicine, Aedes, MESH: Reverse Transcriptase Polymerase Chain Reaction, MESH: Animals, Chikungunya, MESH: Disease Outbreaks, MESH: Alphavirus Infections, 0303 health sciences, biology, Reverse Transcriptase Polymerase Chain Reaction, virus diseases, MESH: Aedes, Viral Load, 3. Good health, Italy, MESH: RNA, Viral, [SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/Virology, RNA, Viral, Female, MESH: Viral Load, Chikungunya virus, Aedes albopictus, 030231 tropical medicine, MESH: Insect Vectors, 03 medical and health sciences, Culex pipiens, parasitic diseases, medicine, Animals, Humans, Ecology, Evolution, Behavior and Systematics, 030304 developmental biology, Aedes vexans, MESH: Humans, General Veterinary, Alphavirus Infections, fungi, Outbreak, MESH: Italy, MESH: Chikungunya virus, Dengue Virus, biology.organism_classification, medicine.disease, Virology, Insect Vectors, Insect Science, Vector (epidemiology), Parasitology, MESH: Female
Abstract

International audience; The Asian tiger mosquito Aedes albopictus (Skuse) (Diptera: Culicidae), native to Southeast Asia, has extended its geographical distribution to invade new temperate and tropical regions. This species was introduced in 1990 to Italy and has since become the main pest in urban settings. It was incriminated as a principal vector in the first European outbreak of chikungunya virus (CHIKV) in the province of Ravenna (Italy) in 2007. This outbreak was associated with CHIKV E1-226V, efficiently transmitted by Ae. albopictus. The occurrence of this outbreak in a temperate country led us to estimate the potential of Ae. albopictus to transmit CHIKV and dengue virus (DENV), and to determine the susceptibility to CHIKV of other mosquito species collected in northern Italy. Experimental infections showed that Ae. albopictus exhibited high disseminated infection rates for CHIKV (75.0% in Alessandria; 90.3% in San Lazzaro) and low disseminated infection rates for DENV-2 (14.3% in San Lazzaro; 38.5% in Alessandria). Moreover, Ae. albopictus was able to attain a high level of viral replication, with CHIKV detectable in the salivary glands at day 2 after infection. In addition, the other three mosquito species, Anopheles maculipennis Meigen, Aedes vexans vexans (Meigen) and Culex pipiens L., showed variable susceptibilities to infection with CHIKV, of 0%, 7.7% and 0-33%, respectively. This information on vector competence is crucial in assessing the risk for an outbreak of CHIKV or DENV in Italy.

Published
2010

27. Validation of a food-frequency questionnaire for Flemish and Italian-native subjects in Belgium: The IMMIDIET study

Author

Van Dongen, Martien C J M, Lentjes, Marleen A H, Wijckmans, Nicole E G, Dirckx, Carla, Lemaître, Dirk, Achten, Ward, Celis, Marleen, Sieri, Sabina, Arnout, Jef, Buntinx, Frank, Siani, Alfonso, Cappuccio, Francesco P, De Lorgeril, Michel, Iacoviello, Licia, Dagnelie, Pieter C, Renseigné, Non, Nutritional Epidemiology Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, Department of General Practice, Catholic University of Leuven - Katholieke Universiteit Leuven (KU Leuven), Physics Department, Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome], Physiologie cardio-Respiratoire Expérimentale Théorique et Appliquée (TIMC-IMAG-PRETA), Techniques de l'Ingénierie Médicale et de la Complexité - Informatique, Mathématiques et Applications, Grenoble - UMR 5525 (TIMC-IMAG), VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Centre National de la Recherche Scientifique (CNRS)-Université Joseph Fourier - Grenoble 1 (UJF)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Centre National de la Recherche Scientifique (CNRS)-Université Joseph Fourier - Grenoble 1 (UJF), Family Medicine, Epidemiologie, RS: CAPHRI School for Public Health and Primary Care, and RS: CARIM School for Cardiovascular Diseases

Subjects
Male, Mediterranean diet, 030309 nutrition & dietetics, Endocrinology, Diabetes and Metabolism, MESH: Food Habits, MESH: Energy Intake, Food-frequency questionnaire, 0302 clinical medicine, MESH: Belgium, Belgium, Surveys and Questionnaires, Validation, MESH: Diet Records, 030212 general & internal medicine, 2. Zero hunger, 0303 health sciences, Nutrition and Dietetics, MESH: Middle Aged, MESH: Diet Surveys, Food composition data, Middle Aged, Diet Records, Quartile, Italy, language, Female, Social status, Adult, medicine.medical_specialty, Diet Surveys, 03 medical and health sciences, MESH: Diet, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, medicine, Humans, Dietary Habit Profile in European Communities With Different Risk of Myocardial Infarction: the Impact of Migration as a Model of Gene/Environment Interaction (IMMIDIET), Risk factor, MESH: Humans, business.industry, MESH: Questionnaires, MESH: Italy, MESH: Adult, Feeding Behavior, 24-h Recall, language.human_language, MESH: Male, Surgery, Diet, Flemish, business, Energy Intake, Body mass index, MESH: Female, Demography
Abstract

International audience; OBJECTIVE: To validate an integrated food-frequency questionnaire (FFQ) developed to assess habitual food intake of Flemish and Italian-native subjects in Belgium as part of the European Collaborative Dietary Habit Profile in European Communities With Different Risk of Myocardial Infarction: the Impact of Migration as a Model of Gene/Environment Interaction (IMMIDIET Project). METHODS: The semiquantitative FFQ contained 322 items on food and food preparation. FFQs filled by a sample (n = 70) of the Flemish-Flemish and Flemish-Italian IMMIDIET subpopulations were randomly selected. Five 24-h recalls, administered over a period of 1 y by the same sample, served for validation. Energy and macronutrients were calculated using the Dutch NEVO and the Belgian NUBEL food composition tables. Intakes of energy and macronutrients estimated by the FFQ and repeated 24-h recall, respectively, were compared by means of correlation coefficients, classification into quartiles, and Bland-Altman plotting. RESULTS: The FFQ overestimated intake of energy and most macronutrients by 40-70%. This overestimation largely disappeared when values were expressed as energy percentage. Correlations ranked from 0.40 to 0.60 for energy and most macronutrients (median 0.53); correlations were lower (null to 0.41) for fat and higher (up to 0.90) for alcohol. Classification in quartiles of intake showed good agreement: 83% were classified in the same or adjacent quartile of energy, and 66-90% for macronutrients. Correlations and classification of macronutrient intake into quartiles remained similar when macronutrients were expressed as energy percentage. Stratification according to ethnic subgroup, age, body mass index, or social status showed no differences. CONCLUSION: The IMMIDIET FFQ is a valuable tool for studies of the role of energy and macronutrients in disease etiology or outcome, but less suitable for estimating absolute intake levels.

Published
2010

28. Emerging treatment paradigms of ocular surface disease: proceedings of the Ocular Surface Workshop

Author

Gerd Geerling, Harminder S Dua, Maurizio Rolando, Jose M. Benitez-del-Castillo, Catherine Creuzot-Garcher, University of Genoa (UNIGE), Julius Maximilians University Wurzburg, Julius-Maximilians-Universität Würzburg [Wurtzbourg, Allemagne] (JMU), Univ Hosp, Div Ophthalmol & Visual Sci, University of Nottingham, UK (UON), Hosp Clin San Carlos, Unidad Superficie & Inflamac Ocular, Hosp Clin San Carlos, Service d'Ophtalmologie (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), FLAveur, VIsion et Comportement du consommateur (FLAVIC), Institut National de la Recherche Agronomique (INRA)-Université de Bourgogne (UB)-Etablissement National d'Enseignement Supérieur Agronomique de Dijon (ENESAD), University Genoa, University of Genoa ( UNIGE ), University of Würzburg, University of Nottingham, UK ( UON ), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ), FLAveur, VIsion et Comportement du consommateur ( FLAVIC ), Etablissement National d'Enseignement Supérieur Agronomique de Dijon ( ENESAD ) -Institut National de la Recherche Agronomique ( INRA ) -Université de Bourgogne ( UB ), Julius Maximilian University, Nottingham University Hospitals, San Carlos Clinical Hospital, Partenaires INRAE, Institut National de la Recherche Agronomique (INRA), and Etablissement National d'Enseignement Supérieur Agronomique de Dijon (ENESAD)-Institut National de la Recherche Agronomique (INRA)-Université de Bourgogne (UB)

Subjects
medicine.medical_specialty, MESH : Recurrence, education, oeil, ophtalmologie, ocular, traitement, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, MESH : Corneal Diseases, ocular surface disease, MESH : Refractive Surgical Procedures, Ophthalmology, medicine, MESH : Blepharitis, surface, 030212 general & internal medicine, [SDV.MHEP.OS]Life Sciences [q-bio]/Human health and pathology/Sensory Organs, MESH: Corneal Diseases, MESH: Humans, Ocular surface disease, treatment, business.industry, paradigme, MESH : Humans, MESH: Blepharitis, MESH : Dry Eye Syndromes, Ocular surface disease Ophthalmology Surface Eye Ocular Paradigm Treatment, MESH: Italy, MESH: Dry Eye Syndromes, MESH : Italy, paradigm, oculaire, eye, Sensory Systems, MESH: Recurrence, pathologie de la surface oculaire, MESH: Refractive Surgical Procedures, ophthalmology, [ SDV.MHEP.OS ] Life Sciences [q-bio]/Human health and pathology/Sensory Organs, 030221 ophthalmology & optometry, Engineering ethics, business, Ocular surface, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract

International audience; The objective of the Ocular Surface Workshop in Rome, Italy, on 6 February 2009, was to enhance the understanding of ocular surface disease (OSD) through an exploration of the nature of its complexities and current treatment paradigms across Europe. It was hoped that the peer-to-peer discussions and updates regarding common knowledge, clinical practices and shared experiences at this workshop would subsequently shape future treatment approaches to OSD.

Published
2010

29. Multi-locus microsatellite analysis supports the hypothesis of an autochthonous focus of Echinococcus multilocularis in northern Italy

Author

Maria Teresa Manfredi, Claudio Genchi, Jenny Knapp, Renaud Piarroux, Jean-Mathieu Bart, G Dusher, G. La Rosa, Edoardo Pozio, Bruno Gottstein, Adriano Casulli, A. R. Di Cerbo, Laboratoire Chrono-environnement - CNRS - UBFC (UMR 6249) (LCE), Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC)-Centre National de la Recherche Scientifique (CNRS), Institute of Parasitology, University of Bern, Infections Parasitaires : Transmission, Physiopathologie et Thérapeutiques (IP-TPT), Service de Santé des Armées-Assistance Publique - Hôpitaux de Marseille (APHM)-Aix Marseille Université (AMU)-Institut de Recherche pour le Développement (IRD), Laboratoire Chrono-environnement ( LCE ), Université Bourgogne Franche-Comté ( UBFC ) -Centre National de la Recherche Scientifique ( CNRS ) -Université de Franche-Comté ( UFC ), Infections Parasitaires : Transmission, Physiopathologie et Thérapeutiques ( IP-TPT ), Institut de Recherche pour le Développement ( IRD ) -Aix Marseille Université ( AMU ) -Assistance Publique - Hôpitaux de Marseille ( APHM ) -Service de Santé des Armées-Université de Montpellier ( UM ), Laboratoire Chrono-environnement (UMR 6249) (LCE), Centre National de la Recherche Scientifique (CNRS)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), and Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-Service de Santé des Armées

Subjects
Vulpes, MESH : Polymorphism, Genetic, MESH : Prevalence, Foxes, Helminth genetics, MESH : Genotype, MESH : Echinococcus multilocularis, MESH: DNA, Helminth, MESH : Microsatellite Repeats, MESH : Echinococcosis, Polymerase Chain Reaction, MESH: Genotype, MESH : DNA, Helminth, Genotype, Prevalence, Cluster Analysis, MESH: Animals, MESH : Polymerase Chain Reaction, Molecular Epidemiology, Settore VET/06 - Parassitologia e Malattie Parassitarie degli Animali, biology, Echinococcus multilocularis, Molecular epidemiology, Genetic polymorphism, Tandem repeated multi-locus microsatellite, Italy, Alps, Ecology, DNA, Helminth, Europe, MESH : Tandem Repeat Sequences, MESH: Reproducibility of Results, Infectious Diseases, Tandem Repeat Sequences, Microsatellite, MESH : Molecular Epidemiology, MESH : Europe, Zoology, [ SDV.EE.SANT ] Life Sciences [q-bio]/Ecology, environment/Health, MESH: Echinococcosis, Echinococcosis, MESH: Polymorphism, Genetic, Helminths, Animals, Humans, MESH : Cluster Analysis, MESH: Molecular Epidemiology, Genetic variability, MESH: Prevalence, MESH : Foxes, MESH: Echinococcus multilocularis, [SDV.EE.SANT]Life Sciences [q-bio]/Ecology, environment/Health, Polymorphism, Genetic, MESH: Foxes, MESH: Humans, MESH : Reproducibility of Results, MESH : Humans, Reproducibility of Results, MESH: Italy, MESH: Polymerase Chain Reaction, MESH : Italy, biology.organism_classification, MESH: Cluster Analysis, MESH: Tandem Repeat Sequences, Parasitology, MESH : Animals, MESH: Microsatellite Repeats, MESH: Europe, Microsatellite Repeats
Abstract

International audience; Echinococcus multilocularis is characterised by a wide geographical distribution, encompassing three continents (North America, Asia and Europe) yet very low genetic variability is documented. Recently, this parasite has been detected in red foxes (Vulpes vulpes) circulating in an Alpine region of Italy, close to Austria. This finding raised the question as to whether an autochthonous cycle exists in Italy or whether the infected foxes originated from the neighbouring regions of Austria. Studies have shown that multi-locus microsatellite analysis can identify genomic regions carrying mutations that result in a local adaptation. We used a tandem repeated multi-locus microsatellite (EmsB) to evaluate the genetic differences amongst adult worms of E. multilocularis collected in Italy, worms from neighbouring Austria and from other European and extra-European countries. Fluorescent PCR was performed on a panel of E. multilocularis samples to assess intra-specific polymorphism. The analysis revealed four closed genotypes for Italian samples of E. multilocularis which were unique compared with the other 25 genotypes from Europe and the five genotypes from Alaska. An analysis in the Alpine watershed, comparing Italian adult worms with those from neighbouring areas in Austria, showed a unique cluster for Italian samples. This result supports the hypothesis of the presence of an autochthonous cycle of E. multilocularis in Italy. EmsB can be useful for 'tracking' the source of infection of this zoonotic parasite and developing appropriate measures for preventing or reducing the risk of human alveolar echinococcosis.

Published
2009

30. Alcohol consumption and n-3 polyunsaturated fatty acids in healthy men and women from 3 European populations

Author

di Giuseppe, R, de Lorgeril, M, Salen, P, Laporte, F, Di Castelnuovo, A, Krogh, V, Siani, A, Arnout, J, Cappuccio, Fp, van Dongen, M, Donati, Mb, de Gaetano, G, Iacoviello, Licia, European Collaborative Group of the IMMIDIET Project, Physiologie cardio-Respiratoire Expérimentale Théorique et Appliquée (TIMC-IMAG-PRETA), Techniques de l'Ingénierie Médicale et de la Complexité - Informatique, Mathématiques et Applications, Grenoble - UMR 5525 (TIMC-IMAG), VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Centre National de la Recherche Scientifique (CNRS)-Université Joseph Fourier - Grenoble 1 (UJF)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Centre National de la Recherche Scientifique (CNRS)-Université Joseph Fourier - Grenoble 1 (UJF), Département de biologie intégrée, CHU Grenoble-Hôpital Michallon, Department of Preventive & Predictive Medicine, Italian National Center Institute, Physics Department, Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome], Epidemiologie, and RS: NUTRIM - R2 - Gut-liver homeostasis

Subjects
Male, MESH: Eicosapentaenoic Acid, Medicine (miscellaneous), MESH: Mental Recall, Wine, 030204 cardiovascular system & hematology, MESH: Erythrocyte Membrane, MESH: Beer, 0302 clinical medicine, Belgium, MESH: Fatty Acids, Omega-3, MESH: Belgium, MESH: England, Surveys and Questionnaires, Blood plasma, MESH: Cross-Cultural Comparison, 030212 general & internal medicine, Food science, chemistry.chemical_classification, MESH: Aged, Nutrition and Dietetics, MESH: Middle Aged, Beer, Middle Aged, Fish oil, Eicosapentaenoic acid, 3. Good health, MESH: Docosahexaenoic Acids, medicine.anatomical_structure, Eicosapentaenoic Acid, England, Italy, Docosahexaenoic acid, Female, Polyunsaturated fatty acid, Adult, Cross-Cultural Comparison, medicine.medical_specialty, Alcohol Drinking, Docosahexaenoic Acids, Fetal alcohol syndrome, MESH: Multivariate Analysis, 03 medical and health sciences, Sex Factors, MESH: Sex Factors, Internal medicine, Fatty Acids, Omega-3, medicine, Humans, Aged, MESH: Humans, Red Cell, business.industry, MESH: Questionnaires, Erythrocyte Membrane, MESH: Italy, MESH: Adult, medicine.disease, MESH: Male, MESH: Wine, Red blood cell, Endocrinology, chemistry, Mental Recall, Multivariate Analysis, business, MESH: Female, [SDV.AEN]Life Sciences [q-bio]/Food and Nutrition, MESH: Alcohol Drinking
Abstract

International audience; BACKGROUND: Because high dietary and blood n-3 (omega-3) fatty acids (FAs) are protective against coronary heart disease and sudden cardiac death, the alcohol-associated increase in blood n-3 FAs could be considered an original mechanism of alcohol's cardioprotective effect. OBJECTIVE: Our objective was to assess whether alcohol consumption is associated with concentrations of very-long-chain "marine" (eg, fish oil) n-3 FAs both in plasma and in red blood cell membranes. DESIGN: In the framework of the IMMIDIET (Dietary Habit Profile in European Communities with Different Risk of Myocardial Infarction: the Impact of Migration as a Model of Gene-Environment Interaction) Project, 1604 subjects (802 women-men pairs), aged 26-65 y, were enrolled in Italy, Belgium, and England. A 1-y-recall food-frequency questionnaire was used to evaluate dietary intake. RESULTS: In fully adjusted multivariate analyses, alcohol intake was positively associated with plasma eicosapentaenoic acid (EPA), docosahexaenoic acid (DHA), and EPA + DHA concentrations (P < 0.0001, P = 0.036, and P = 0.002, respectively) in women and with EPA and the EPA + DHA index in red blood cells (P < 0.0001 and P = 0.037, respectively). In men, only plasma and red blood cell EPA concentrations were associated with alcohol intake (P = 0.003 and P = 0.004, respectively). Stratified analyses showed an association between alcohol and both plasma and red cell EPA (P = 0.008 and P = 0.002, respectively), DHA (P = 0.014 and P = 0.008, respectively), and the EPA + DHA index (P = 0.010 and P = 0.006, respectively) in wine drinkers, whereas no association was found in those who drink beer and spirits. CONCLUSIONS: Alcohol intake was associated with higher plasma and red blood cell concentrations of marine n-3 FAs. Components of wine other than alcohol (polyphenols) might exert these effects. Part of the alcohol-induced cardioprotection may be mediated through increased marine n-3 FAs.

Published
2009

31. A novel point mutation in the CYBB gene promoter leading to a rare X minus chronic granulomatous disease variant--impact on the microbicidal activity of neutrophils

Author

Cécile Martel, Marie José Stasia, F. Defendi, Pietro Dri, Eva Decleva, Université Joseph Fourier - Grenoble 1 (UJF), Department of Life Sciences [Trieste], Università degli studi di Trieste, Department of Life Sciences, Techniques de l'Ingénierie Médicale et de la Complexité - Informatique, Mathématiques et Applications, Grenoble - UMR 5525 (TIMC-IMAG), VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Centre National de la Recherche Scientifique (CNRS)-Université Joseph Fourier - Grenoble 1 (UJF), TheREx, VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Centre National de la Recherche Scientifique (CNRS)-Université Joseph Fourier - Grenoble 1 (UJF)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Centre National de la Recherche Scientifique (CNRS)-Université Joseph Fourier - Grenoble 1 (UJF), Defendi, F., Decleva, Eva, Martel, C., Dri, Pietro, and Stasia, M. J.

Subjects
Male, Neutrophils, MESH: Membrane Glycoproteins, DNA Mutational Analysis, Cytochrome b558, MESH: Base Sequence, MESH: Neutrophils, MESH: Superoxides, medicine.disease_cause, Granulomatous Disease, Chronic, [SDV.IMM.II]Life Sciences [q-bio]/Immunology/Innate immunity, 0302 clinical medicine, Chronic granulomatous disease, MESH: Granulomatous Disease, Chronic, Superoxides, MESH: Oxidants, X-CGD, MESH: DNA Mutational Analysis, MESH: NADPH Oxidase, Promoter Regions, Genetic, MESH: Microbial Sensitivity Tests, 0303 health sciences, Mutation, Oxidase test, education.field_of_study, NADPH oxidase, Membrane Glycoproteins, Point mutation, biology, CYBB gene promoter, Oxidants, Corpus albicans, 3. Good health, Pedigree, Italy, gene promoter, 030220 oncology & carcinogenesis, NADPH Oxidase 2, MESH: Hydrogen Peroxide, Molecular Medicine, Female, cytochrome, MESH: Pedigree, Population, Molecular Sequence Data, MESH: Sequence Alignment, Microbial Sensitivity Tests, Microbicidal activity, MESH: Chromosomes, Human, X, 03 medical and health sciences, MESH: Promoter Regions, Genetic, medicine, Humans, CYBB, promotor region, education, Molecular Biology, MESH: Point Mutation, 030304 developmental biology, Chromosomes, Human, X, MESH: Molecular Sequence Data, MESH: Humans, Base Sequence, MESH: Italy, NADPH Oxidases, Hydrogen Peroxide, medicine.disease, Molecular biology, MESH: Male, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, biology.protein, MESH: Female, Sequence Alignment
Abstract

International audience; This article reports an atypical and extremely rare case of X-linked CGD in an Italian family characterized by a low expression of gp91phox (X91- CGD). A novel point mutation in the CYBB gene's promoter (insertion of a T at position -54T to -56T) appeared to prevent the full expression of this gene in the patient's neutrophils and correlated with a residual oxidase activity in the whole cells population. The expression and functional activity of the oxidase in eosinophils appeared to be almost normal. Gel shift assays indicated that the mutation led to decreased interactions with DNA-binding proteins. The total O2- production in the patient's granulocytes (5-7% of normal) supported no microbicidal power after 45 min and 60 min of contact with S. aureus and C. albicans, respectively. Despite this residual oxidase activity, the patients suffered from severe and life-threatening infections. It was concluded that in these X91- CGD neutrophils, the O2- production per se was not sufficient to protect the patient against severe infections.

Published
2009

32. Prevalence, awareness, treatment and control of hypertension in healthy unrelated male-female pairs of European regions: the dietary habit profile in European communities with different risk of myocardial infarction--the impact of migration as a model of gene-environment interaction project

Author

Costanzo, S., di Castelnuovo, A., Zito, F., Krogh, V., Siani, A., Arnout, J., Cappuccio, F.P., Miller, M.A., van Dongen, M., de Lorgeril, M., de Gaetano, G., Donati, M.B., Iacoviello, L., European Collaborative Group of the IMMIDIET Project, the, Dagnelie, P.C., Epidemiologie, RS: NUTRIM - R2 - Gut-liver homeostasis, Physico-chimie moléculaire des membranes biologiques (PCMMB), Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Department of Preventive & Predictive Medicine, Italian National Center Institute, Physics Department, Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome], Chemical Laboratories, University of Cambridge [UK] (CAM), Physiologie cardio-Respiratoire Expérimentale Théorique et Appliquée (TIMC-IMAG-PRETA), Techniques de l'Ingénierie Médicale et de la Complexité - Informatique, Mathématiques et Applications, Grenoble - UMR 5525 (TIMC-IMAG), VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Centre National de la Recherche Scientifique (CNRS)-Université Joseph Fourier - Grenoble 1 (UJF)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Centre National de la Recherche Scientifique (CNRS)-Université Joseph Fourier - Grenoble 1 (UJF), Centre National de la Recherche Scientifique (CNRS)-Université Paris Diderot - Paris 7 (UPD7), Università degli Studi di Roma 'La Sapienza' [Rome], and Université Joseph Fourier - Grenoble 1 (UJF)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP)-IMAG-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA)-Université Joseph Fourier - Grenoble 1 (UJF)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP)-IMAG-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA)

Subjects
Male, MESH: Awareness, Physiology, MESH: Emigration and Immigration, Psychological intervention, Myocardial Infarction, MESH: Food Habits, 030204 cardiovascular system & hematology, MESH: Hypertension, 0302 clinical medicine, MESH: Belgium, MESH: England, Belgium, MESH: Risk Factors, Risk Factors, Prevalence, 030212 general & internal medicine, Myocardial infarction, MESH: Models, Genetic, Antihypertensive drug, antihypertensive therapy, MESH: Aged, education.field_of_study, Family Characteristics, MESH: Middle Aged, blood pressure, MESH: European Continental Ancestry Group, Awareness, Emigration and Immigration, Middle Aged, 3. Good health, Europe, MESH: Myocardial Infarction, England, Italy, Hypertension, Female, Cardiology and Cardiovascular Medicine, Social status, Adult, medicine.medical_specialty, medicine.drug_class, Population, Models, Biological, White People, 03 medical and health sciences, Gene interaction, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Internal medicine, Internal Medicine, medicine, MESH: Family Characteristics, Humans, Risk factor, education, MESH: Prevalence, Antihypertensive Agents, Aged, MESH: Antihypertensive Agents, MESH: Humans, Models, Genetic, business.industry, MESH: Models, Biological, MESH: Italy, MESH: Adult, Feeding Behavior, medicine.disease, MESH: Male, Surgery, Blood pressure, business, MESH: Female
Abstract

International audience; BACKGROUND: Blood pressure control is of great importance in the prevention of cardiovascular events. AIM: To determine the prevalence, awareness, treatment and control of hypertension in healthy unrelated male-female pairs of European regions. METHODS: The dietary habit profile in European communities with different risk of myocardial infarction: the impact of migration as a model of gene-environment interaction (IMMIDIET) project was a cross-sectional study to investigate differences in the distribution of cardiovascular risk factors and dietary habits in healthy unrelated male-female pairs married or living together in European regions. Eight hundred and two unrelated male-female pairs were randomly recruited in Abruzzo (Italy), Limburg (Belgium) and south-west London (England). Blood pressure was measured using an automated device. Hypertension was defined as systolic blood pressure of at least 140 mmHg or diastolic blood pressure of at least 90 mmHg or current antihypertensive treatment. RESULTS: Overall, 24.4% of the population was hypertensive; among them, one-third was on antihypertensive treatment, but a significant proportion (56%) was unaware of the high blood pressure levels. Men were more often hypertensive than women (29.4 vs. 19.5%, P < 0.0001). Women were more often treated than men (49.8 vs. 28.9%, P < 0.0001). Women from south-west London showed blood pressure levels lower than those from Abruzzo and Limburg (P < 0.001 for both, adjusted for age, BMI and social status). No difference among countries was found in blood pressure levels in men. The adjusted prevalence of hypertension was 20.8% in south-west London, 23.6% in Limburg and 28.87% in Abruzzo (Abruzzo vs. south-west London P = 0.005). The prevalence of antihypertensive treatment was 43.5, 42.5 and 32.1% in Abruzzo, Limburg and south-west London, respectively. Out of those treated for hypertension, 42, 43 and 47.7% in Abruzzo, Limburg and south-west London, respectively, were well controlled. CONCLUSION: In communities of healthy unrelated male-female pairs from three different European regions, more than half of hypertensive patients appeared to have blood pressure levels not at target values. Interventions are required to optimize the use and effectiveness of antihypertensive drug therapy in these patients.

Published
2008

33. Heritability and shared genetic effects of asthma and hay fever: an Italian study of young twins

Author

Daniela Rotondi, Sonia Brescianini, Maria Antonietta Stazi, Virgilia Toccaceli, Cristina D'Ippolito, Corrado Fagnani, Valeria Patriarca, Emanuela Medda, Lorenza Nisticò, Isabella Annesi-Maesano, Epidémiologie des maladies infectieuses et modélisation (ESIM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), C Fagnani, Annesi-Maesano I, S Brescianini, C Ippolito D', E Medda, L Nisticò, Patriarca V, D Rotondi, Toccaceli V, and Stazi MA

Subjects
Male, MESH: Chi-Square Distribution, MESH: Asthma, 0302 clinical medicine, Risk Factors, MESH: Risk Factors, MESH: Child, Odds Ratio, Prevalence, Medicine, MESH: Models, Genetic, Child, Genetics (clinical), 0303 health sciences, education.field_of_study, Obstetrics and Gynecology, Family aggregation, 3. Good health, Italy, Hay fever, Female, Adolescent, Population, Genetic correlation, 03 medical and health sciences, Diseases in Twins, Humans, education, MESH: Prevalence, 030304 developmental biology, Asthma, MESH: Adolescent, Chi-Square Distribution, MESH: Humans, Models, Genetic, business.industry, Rhinitis, Allergic, Seasonal, MESH: Italy, MESH: Rhinitis, Allergic, Seasonal, Heritability, medicine.disease, Comorbidity, Twin study, MESH: Odds Ratio, MESH: Male, 030228 respiratory system, Pediatrics, Perinatology and Child Health, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, MESH: Diseases in Twins, business, MESH: Female, Demography
Abstract

A number of studies have provided evidence of a significant familial aggregation for both asthma and hay fever, and have reported a substantial comorbidity between the two conditions. However, far fewer, especially in Italy, have aimed at clarifying the origins of such comorbidity. The main aims of the present study were (a) to estimate heritability of asthma and hay fever, (b) to measure the association between asthma and hay fever at the individual level, and (c) to assess the extent to which genetic and environmental factors, shared by the two conditions, mediate this association. The twin method was used. The study sample was derived from the Italian Twin Registry, and included 392 twin pairs aged 8 to 17 years. Data collection was performed through parent self-administered questionnaire. Bivariate structural equation twin modeling was applied to asthma and hay fever. Genetic factors accounted for 92% and 78% of the variance in liability to asthma and hay fever, respectively, with the remaining contributions due to unique environmental influences. The within-individual association between asthma and hay fever was substantial. The genetic correlation between the two conditions was .58, whereas no evidence of overlapping unique environmental effects was found. In conclusion, this study showed a high heritability of asthma and hay fever in the Italian child and adolescent population. It also indicated that asthma and hay fever share, to a large extent, a common genetic background, and environmental factors are not relevant to explain the comorbidity.

Published
2008

34. Chikungunya: A risk for Mediterranean countries?

Author

Charles Jeannin, Anna-Bella Failloux, Marie Vazeille, Francis Schaffner, Estelle Martin, Génétique Moléculaire des Bunyavirus, Institut Pasteur [Paris] (IP), Entente interdépartementale pour la démoustication du littoral méditerranéen, EID-Méditerranée, The Pasteur Institute in Paris and the French ministry in charge of health, Direction Générale de la Santé, supported this work., and Institut Pasteur [Paris]

Subjects
Mediterranean climate, Aedes albopictus, MESH: Insect Vectors/physiology, Veterinary (miscellaneous), viruses, MESH: Insect Vectors/virology, 030231 tropical medicine, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, Aedes, medicine, Animals, Humans, MESH: Animals, Chikungunya, MESH: Alphavirus Infections/transmission, MESH: Aedes/physiology, 030304 developmental biology, MESH: Alphavirus Infections/virology, 0303 health sciences, MESH: Humans, biology, MESH: Aedes/virology, Ecology, Alphavirus Infections, fungi, Outbreak, MESH: Italy, MESH: Chikungunya virus, biology.organism_classification, Insect Vectors, Europe, MESH: France, Infectious Diseases, [SDV.MP]Life Sciences [q-bio]/Microbiology and Parasitology, Italy, Insect Science, Tiger mosquito, Parasitology, France, Chikungunya virus, Vector competence
Abstract

International audience; The Italian outbreak of the 2007 summer and the active spreading of the Asian tiger mosquito Aedes albopictus in southern Europe, raise the possibility of local transmission of chikungunya (CHIK) in Mediterranean countries. Established in at least 12 countries in southern Europe since the end of the 1970s and in southern France since 2004, Ae. albopictus, is invading the French Mediterranean coast from East to West. To determine the possibility of an outbreak of CHIK in southern France, we provide an assessment of vector competence towards CHIK virus of different mosquito species, including Ae. albopictus, collected in 2006 in Camargue and the "Côte d'Azur" (Alpes Maritimes). In the laboratory, Ae. albopictus showed a high susceptibility to CHIK infection (77.1%) comparable to that observed for specimens collected in March 2006 in La Reunion Island. Hence, Ae. albopictus from southern France has the potential to serve as a vector based on its susceptibility to CHIK infection. Its presence in a tourist area such as the "Côte d'Azur" should be considered as a potential threat for the introduction of CHIK virus as in Italy where the initial case was probably a traveller coming back from an endemic zone.

Published
2008

35. Epilepsy and toxocariasis: a case control study in Italy

Author

Donatella Contrafatto, G. Vitale, Alessandra Nicoletti, Pierre-Marie Preux, Roberto Biondi, Hector H. Garcia, Mario Zappia, Veronica Sorbello, Vito Sofia, Alessandro Bartoloni, Antonia Mantella, Department of Neurosciences, Università degli studi di Catania [Catania], Laboratoire de Biostatistique et d'Informatique Médicale, Université de Limoges (UNILIM), Neuroépidémiologie Tropicale et Comparée (NETEC), Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST FR CNRS 3503)-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Université de Limoges (UNILIM), Service de l'Information Médicale et de l'Évaluation [CHU Limoges] (SIME), and CHU Limoges

Subjects
Male, MESH: Comorbidity, Comorbidity, Logistic regression, MESH: Dogs, Epilepsy, 0302 clinical medicine, MESH: Risk Factors, Risk Factors, Seroepidemiologic Studies, MESH: Animals, MESH: Immunoglobulin G, MESH: Immunoblotting, biology, medicine.diagnostic_test, Toxocara canis, MESH: Case-Control Studies, 3. Good health, Canis, Neurology, Italy, MESH: Epilepsy, Animals, Domestic, Female, MESH: Toxocariasis, Adult, medicine.medical_specialty, 030231 tropical medicine, Immunoblotting, Antibodies, Helminth, Neurological examination, Sampling Studies, MESH: Toxocara canis, 03 medical and health sciences, Dogs, MESH: Sampling Studies, MESH: Antibodies, Helminth, Internal medicine, medicine, Animals, Humans, MESH: Animals, Domestic, [SDV.MP.PAR]Life Sciences [q-bio]/Microbiology and Parasitology/Parasitology, MESH: Humans, MESH: Seroepidemiologic Studies, Toxocariasis, business.industry, Case-control study, MESH: Italy, MESH: Adult, biology.organism_classification, medicine.disease, MESH: Male, Surgery, MESH: Epilepsies, Partial, Case-Control Studies, Immunoglobulin G, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Neurology (clinical), Epilepsies, Partial, business, MESH: Female, 030217 neurology & neurosurgery
Abstract

Summary Purpose: To assess the relationship between epilepsy and toxocariasis in adult subjects by means of a case–control study in Catania, Italy. Methods: People with epilepsy (PWE) were randomly selected from the database of the center of epilepsy of our department. Epilepsy was diagnosed according to the definition proposed by the International League Against Epilepsy. One healthy control per each case was selected among subjects who went to the central laboratory for a hematological check. Control subjects underwent a complete neurological examination to exclude the presence of neurological disorders. PWE and controls were assessed serologically for antibodies against Toxocara canis (T. canis) by an immunoblotting assay. Results: Two hundred thirty-one PWE (110 men and 121 women) and 201 controls (126 men and 75 women) were enrolled in the study. Of the 231 PWE, 152 presented partial seizures. Antibodies anti-T. canis were found in 38 PWE (16.4%) and in 13 controls (6.6%) giving a crude OR of 2.85 (95% CI 1.47–5.51). Adjusted OR estimated by logistic regression was 3.90 (95% CI 1.91–7.98). This association was mainly due to a significant association between Toxocara antibodies and partial epilepsy (adjusted OR 4.69; 95% CI 2.24–9.80), while a positive, but not significant, association was found with generalized seizures (adjusted OR 1.74; 95% CI 0.60–5.05). Conclusion: We found a significant association between T. canis seropositivity and epilepsy and a stronger association was found with partial epilepsy. Our finding suggests that toxocariasis may increase the risk of epilepsy.

Published
2008

36. Chromosome instability in human hepatocellular carcinoma depends on p53 status and aflatoxin exposure

Author

Carlo Battiston, Benoit Terris, Pascal Pineau, Emilie Cordina, Anne Dejean, Agnès Marchio, Alessandro Russo, Lun Xiu Qin, Vincenzo Mazzaferro, Zhao You Tang, Bruno Turlin, Organisation Nucléaire et Oncogenèse, Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM), G.I. Surgery and Liver Transplantation Unit, IRCCS Istituto Nazionale dei Tumori [Milano], Service d'Anatomie et de cytologie pathologiques [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Liver Cancer Institute, Fudan University [Shanghai], CHU Pontchaillou [Rennes], This work was supported by the Ligue Nationale contre le Cancer (Equipe labelisée) and AIRC (Italian Association for Cancer Research)., We are grateful to Christiane Bouchier and the personnel of the Pasteur Institute Genomic Plate-Forme. We thank Carolina Armengol, Oliver Bischof, Jacob Seeler and Yu Wei for critical reading of the manuscript., and Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
p53, Male, Mutation rate, Aflatoxin B1, Hepatocellular carcinoma, Health, Toxicology and Mutagenesis, MESH: beta Catenin, Loss of Heterozygosity, medicine.disease_cause, Poisons, 0302 clinical medicine, MESH: Risk Factors, Risk Factors, Chromosome instability, MESH: Tumor Suppressor Protein p53, MESH: Carcinoma, Hepatocellular, beta Catenin, MESH: Aged, 0303 health sciences, MESH: Middle Aged, MESH: Asian Continental Ancestry Group, Incidence (epidemiology), MESH: Aflatoxin B1, MESH: European Continental Ancestry Group, Middle Aged, Hepatitis B, MESH: Amino Acid Substitution, MESH: China, 3. Good health, MESH: Hepatitis B virus, Italy, 030220 oncology & carcinogenesis, MESH: Poisons, Female, France, Adult, China, Hepatitis B virus, Carcinoma, Hepatocellular, β-Catenin, Mutation, Missense, [SDV.CAN]Life Sciences [q-bio]/Cancer, Biology, White People, MESH: Chromosomal Instability, 03 medical and health sciences, Asian People, MESH: Mutagens, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Chromosomal Instability, Genetics, medicine, Humans, 030304 developmental biology, Aged, MESH: Loss of Heterozygosity, MESH: Mutation, Missense, MESH: Humans, MESH: Hepatitis B, Chromosomes, Human, Pair 13, Chromosome, Cancer, MESH: Italy, MESH: Adult, [SDV.MHEP.HEG]Life Sciences [q-bio]/Human health and pathology/Hépatology and Gastroenterology, HCCS, medicine.disease, Hepatitis viruses, MESH: Male, MESH: France, Amino Acid Substitution, Cancer research, MESH: Chromosomes, Human, Pair 13, Tumor Suppressor Protein p53, MESH: Female, Mutagens
Abstract

International audience; Hepatocellular carcinoma (HCC) is a heterogeneous disease triggered by various risk factors and frequently characterized by chromosome instability. This instability is considered to be caused primarily by Hepatitis B virus (HBV), although aflatoxin B1 (AFB1), a potent fungal mutagen is also suspected to influence chromosomal repair. We studied 90 HCCs from Italy, the country with the highest incidence of hepatocellular carcinoma in Europe, 81 samples from France and 52 specimens from Shanghai, in a region where intake of AFB1 via the diet is known to be high. All 223 tumours were characterized for 15 different genomic targets, including allelic loss at 13 chromosome arms and mutations of beta-catenin and p53 genes. Despite disparity in risk-factor distribution, Italian and French cases did not significantly differ for 14 of the 15 targets tested. beta-Catenin and p53 displayed moderate and similar mutation rates (18-29% of cases) in European series. By contrast, tumours from Shanghai were significantly different, with a lower mutation rate for beta-catenin (4% vs. 26%, p

Published
2007

37. Cardiovascular risk factors and global risk of fatal cardiovascular disease are positively correlated between partners of 802 married couples from different European countries. Report from the IMMIDIET project

Author

Di Castelnuovo, A, Quacquaruccio, G, Arnout, J, Cappuccio, Fp, de Lorgeril, M, Dirckx, C, Donati, Mb, Krogh, V, Siani, A, van Dongen MC, Zito, F, de Gaetano, G, Iacoviello, Licia, on behalf of the European Collaborative Group of the IMMIDIET Project, Physiologie cardio-Respiratoire Expérimentale Théorique et Appliquée (TIMC-IMAG-PRETA), Techniques de l'Ingénierie Médicale et de la Complexité - Informatique, Mathématiques et Applications, Grenoble - UMR 5525 (TIMC-IMAG), VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Centre National de la Recherche Scientifique (CNRS)-Université Joseph Fourier - Grenoble 1 (UJF)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Centre National de la Recherche Scientifique (CNRS)-Université Joseph Fourier - Grenoble 1 (UJF), Department of Preventive & Predictive Medicine, Italian National Center Institute, Physics Department, Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome], Physico-chimie moléculaire des membranes biologiques (PCMMB), Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Université Joseph Fourier - Grenoble 1 (UJF)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP)-IMAG-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA)-Université Joseph Fourier - Grenoble 1 (UJF)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP)-IMAG-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), Università degli Studi di Roma 'La Sapienza' [Rome], Centre National de la Recherche Scientifique (CNRS)-Université Paris Diderot - Paris 7 (UPD7), Epidemiologie, RS: NUTRIM School of Nutrition and Translational Research in Metabolism, and RS: NUTRIM - R2 - Gut-liver homeostasis

Subjects
Gerontology, Blood Glucose, Male, Cross-sectional study, Epidemiology, Disease, MESH: Energy Intake, 030204 cardiovascular system & hematology, MESH: Risk Assessment, 0302 clinical medicine, Belgium, prevention, MESH: Belgium, MESH: England, cardiovascular disease, MESH: Risk Factors, risk factors, 030212 general & internal medicine, MESH: Aged, MESH: Middle Aged, MESH: Research Design, Age Factors, Hematology, Middle Aged, Explained variation, 3. Good health, England, Italy, Spouse, Cardiovascular Diseases, Research Design, Female, Risk assessment, Adult, MESH: Triglycerides, medicine.medical_specialty, MESH: Factor VIIa, Concordance, Factor VIIa, Risk Assessment, MESH: Social Class, 03 medical and health sciences, MESH: Cross-Sectional Studies, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, MESH: Spouses, medicine, Humans, Risk factor, Mortality, Spouses, Triglycerides, Aged, MESH: Age Factors, MESH: Humans, MESH: Mortality, business.industry, MESH: Italy, MESH: Cardiovascular Diseases, MESH: Adult, MESH: Male, Cross-Sectional Studies, Social Class, MESH: Blood Glucose, business, Energy Intake, MESH: Female, Demography, Protein C, MESH: Protein C
Abstract

SummaryShared environmental factors may confer to spouses a similar risk for cardiovascular disease. We aimed at investigating in pairs the concordance in risk factors for cardiovascular disease and in global risk of cardiovascular events. In the framework of the IMMIDIET Project, married couples, recruited randomly from general practice, were studied. One thousand six hundred and four apparently healthy subjects aged 25–74 years from three different European populations were enrolled. Individual cardiovascular risks were estimated using SCORE risk equations. Age was strongly correlated within couples (r=0.86, P

Published
2007

38. Population genetic data on four STR loci, PAI (CA)n, GpIIIa (CT)n, PLAT (TG)14 (CA)12, and NOS2A (CCTTT)n, in Mediterranean populations

Author

Laurent Varesi, Giuseppe Vona, Laurianne Giovannoni, Pedro Moral, Alessandra Falchi, Ignazio S. Piras, Epidémiologie des maladies infectieuses et modélisation (ESIM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Departament de Biologia Animal, Universitat de Barcelona (UB), Sciences pour l'environnement (SPE), Université Pascal Paoli (UPP)-Centre National de la Recherche Scientifique (CNRS), and Centre National de la Recherche Scientifique (CNRS)-Université Pascal Paoli (UPP)

Subjects
MESH: Integrin beta3, Candidate gene, MESH: Chi-Square Distribution, MESH: Africa, Northern, Nitric Oxide Synthase Type II, 01 natural sciences, Polymerase Chain Reaction, MESH: Plasminogen Activator Inhibitor 1, MESH: Mediterranean Region, Africa, Northern, Gene Frequency, Polymorphism (computer science), Integrin complex, hemic and lymphatic diseases, MESH: Tissue Plasminogen Activator, Platelet, Sicily, MESH: Sicily, Genetics, 0303 health sciences, education.field_of_study, Mediterranean Region, Integrin beta3, MESH: European Continental Ancestry Group, Italy, Data Interpretation, Statistical, Tissue Plasminogen Activator, Microsatellite, MESH: Nitric Oxide Synthase Type II, France, Population, MESH: Genetics, Population, Biology, 010402 general chemistry, White People, Pathology and Forensic Medicine, 03 medical and health sciences, Plasminogen Activator Inhibitor 1, MESH: Polymorphism, Genetic, MESH: Spain, MESH: Gene Frequency, Humans, education, Allele frequency, Alleles, 030304 developmental biology, Chi-Square Distribution, Polymorphism, Genetic, MESH: Humans, [SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE], MESH: Alleles, MESH: Italy, MESH: Polymerase Chain Reaction, Molecular biology, 0104 chemical sciences, MESH: France, Issues, ethics and legal aspects, Genetics, Population, Spain, MESH: Microsatellite Repeats, Plasminogen activator, MESH: Data Interpretation, Statistical, Microsatellite Repeats
Abstract

International audience; In the present study, we have analyzed four highly polymorphic regions (STRs) chosen from four candidate genes involved in: (1) Platelet aggregation: alpha subunit of the platelet GpIIb/GpIIIa integrin complex (GpIIIa (CT)n; 17q21.31), (2) Coagulation fibrinolysis: Plasminogen Activator Tissue (PLAT5 (TG)14(TA)12; 8p12-q11.2) and Plasminogen Activator Inhibitor-1 (PAI-1 (CA)n; 7q21.3-q22), (3) Oxidative metabolism: the inducible nitric oxide (NO) synthase (iNOS) gene (NOS2A (CCTTT)n; 17cen-q11.2). Allele frequencies for these four STR loci were investigated in several Mediterranean populations. The population data deviate from the Hardy-Weinberg equilibrium in all populations for GpIIIa (CT)n polymorphism.

Published
2007

39. Phenotypic and genotypic risk factors for cardiovascular events in an incident dialysis cohort

Author

C. Jouet, Alberto Jeantet, Gilles Pernod, J.-P. Wauters, G. Bonfant, D. Cordonnier, J.-M. Hurot, Giacomo Forneris, Dela Golshayan, Martina G, Claire Barro, C. Turc-Baron, J. Theytaz, Jean-Luc Bosson, Techniques de l'Ingénierie Médicale et de la Complexité - Informatique, Mathématiques et Applications, Grenoble - UMR 5525 (TIMC-IMAG), VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Centre National de la Recherche Scientifique (CNRS)-Université Joseph Fourier - Grenoble 1 (UJF), TIMB, VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Centre National de la Recherche Scientifique (CNRS)-Université Joseph Fourier - Grenoble 1 (UJF)-VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Centre National de la Recherche Scientifique (CNRS)-Université Joseph Fourier - Grenoble 1 (UJF)-CIC - Grenoble, Université Joseph Fourier - Grenoble 1 (UJF)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre de recherche : innovation sociotechnique et organisations industrielles (CRISTO), and Université Pierre Mendès France - Grenoble 2 (UPMF)-Centre National de la Recherche Scientifique (CNRS)

Subjects
Male, Time Factors, medicine.medical_treatment, 030232 urology & nephrology, 030204 cardiovascular system & hematology, Gastroenterology, Cohort Studies, MESH: Genotype, 0302 clinical medicine, MESH: Aged, 80 and over, Lp(a), Risk Factors, MESH: Risk Factors, Prevalence, MESH: Renal Dialysis, Prospective Studies, MESH: Incidence, MESH: Cohort Studies, MESH: Treatment Outcome, Aged, 80 and over, MESH: Aged, education.field_of_study, MESH: Middle Aged, Incidence, Hazard ratio, MESH: Follow-Up Studies, Middle Aged, 3. Good health, Phenotype, Treatment Outcome, Italy, Cardiovascular Diseases, Nephrology, Cohort, Female, France, Hemodialysis, Switzerland, Cohort study, cardiovascular risk, Adult, medicine.medical_specialty, Genotype, Population, MESH: Switzerland, MESH: Phenotype, MESH: Multivariate Analysis, Peritoneal dialysis, 03 medical and health sciences, Renal Dialysis, Internal medicine, medicine, Humans, Risk factor, education, Dialysis, MESH: Prevalence, Aged, [SDV.EE.SANT]Life Sciences [q-bio]/Ecology, environment/Health, MESH: Humans, business.industry, MESH: Time Factors, MESH: Biological Markers, MESH: Italy, MESH: Cardiovascular Diseases, MESH: Adult, homocysteine, mortality study, MESH: Male, MESH: Prospective Studies, MESH: France, Endocrinology, MESH: Morbidity, MTHFR, Multivariate Analysis, dialysis, Morbidity, business, MESH: Female, Biomarkers, Follow-Up Studies
Abstract

Cardiovascular disease (CVD) remains the major cause of death in patients with end-stage renal disease (ESRD). Traditional risk factors do not explain the high prevalence of CVD in this population, and other non-traditional cardiovascular (CV) risk markers have now been described. Therefore, the potential relationship between CVD and phenotypic and genotypic risk markers was investigated prospectively in incident dialysis patients cohort. The 279 patients (244 on hemodialysis, 35 on peritoneal dialysis) within the Diamant Alpin Dialysis Cohort Study were investigated. Phenotypic and genotypic parameters were determined at dialysis initiation, patients monitored over a 2-year period, and CV events (morbidity and mortality) recorded. Globally, 82 CV events occurred and 26 patients (9.3%) died from CVD, whereas 28 (10%) died from non-CV causes. Previous CV events were strongly predictive of CV events occurrence, whatever patients had had one (hazard ratio (HR) 2, 95% confidence intervals (CI) 1.1-3.5) or more (HR 3.9, 95% CI 2.1-7.1) CV accidents before starting dialysis. Both lipoprotein(a) (HR 1.67, 95% CI 1-2.5) and total plasma homocysteine at cutoff 30 micromol/l (HR 1.7, 95% CI 1.1-2.8) were independent predictors of CV events outcome. In the subgroup of patients with homocysteine < 30 micromol/l, methylenetetrahydrofolate reductase (MTHFR) TT was the sole biological parameter predictive of CV event outcome (HR 2.5, 95% CI 1.1-10, P = 0.03). ESRD patients who enter chronic dialysis with a previous CV event, high total homocysteinemia levels, or MTHFR 677TT genotype must be considered at high risk of incident CV events.

Published
2006

40. Human transmissible spongiform encephalopathies in eleven countries: diagnostic pattern across time, 1993-2002

Author

Victoria Lewis, Katharina Stoeck, Markus Glatzel, Vittorio Mellina, Pascual Sánchez-Juan, Steven J. Collins, Jean-Philippe Brandel, Inga Zerr, N. Delasnerie-Laupretre, Javier Almazán, Jesús de Pedro-Cuesta, Cornelia M. van Duijn, Gerard H. Jansen, Herbert Budka, Ellen Gelpi, Michael B. Coulthart, Maurizio Pocchiari, Hans A Kretszchmar, Annick Alpérovitch, Maria Puopolo, Eva Mitrova, Unión Europea. Comisión Europea. 6 Programa Marco, Departamento de Epidemiologia Aplicada, Instituto de Salud Carlos III [Madrid] (ISC)-Centro Nacional de Epidemiologia, Institute of Neuropathology, Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf [Hamburg] (UKE), University hospital of Zurich [Zurich], Registry of Creutzfeldt-Jakob disease -Department of Cell Biology and Neurosciences, Istituto Superiore di Sanita [Rome], Department of Neurology, Georg-August-University [Göttingen], Department of Neuropathology, Ludwig-Maximilians-Universität München (LMU), Neuroépidémiologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Epidemiology and Biostatistics, ERASMUS, Australian National Creutzfeldt-Jakob disease Registry, Department of Pathology, University of Melbourne, CJD Surveillance System, Division of Host Genetics and Prion Diseases, Public Health Agency of Canada, Institute of Neurology, Universität Wien-Austrian Reference Centre for Human Prion Diseases, Research base of Slovak Medical University, Slovak Medical University of Bratislava (SMU), This study was funded through NeuroPrion, an EU Network of Excellence funded by Framework 6 Programme, Contract number: FOOD CT 2004 056579, and EUROCJD funded by DG SANCO, Contract number: 2003201., Istituto Superiore di Sanità (ISS), Georg-August-University = Georg-August-Universität Göttingen, Epidemiology, and Autard, Delphine

Subjects
MESH: Re, Internationality, animal diseases, Iatrogenic Disease, Creutzfeldt-Jakob Syndrome, MESH: Magnetic Resonance Imaging, MESH: Genotype, 0302 clinical medicine, MESH: Cross-Cultural Comparison, Medicine, Registries, [SDV.MHEP.ME] Life Sciences [q-bio]/Human health and pathology/Emerging diseases, 0303 health sciences, [SDV.MHEP.ME]Life Sciences [q-bio]/Human health and pathology/Emerging diseases, lcsh:Public aspects of medicine, Electroencephalography, Magnetic Resonance Imaging, MESH: Iatrogenic Disease, 3. Good health, Europe, Italy, Population Surveillance, MESH: Great Britain, France, Prion Proteins, 44.90, Research Article, Cross-Cultural Comparison, Canada, Slovakia, 616.8, Genotype, Prions, MESH: Australia, MESH: Population Surveillance, Time, 03 medical and health sciences, MESH: Prions, MESH: Canada, Neurologie, MESH: Electroencephalography, mental disorders, Iatrogenic disease, Humans, 030304 developmental biology, MESH: Humans, business.industry, Australia, Public Health, Environmental and Occupational Health, MED 530, MESH: Italy, lcsh:RA1-1270, MESH: Creutzfeldt-Jakob Syndrome, Virology, United Kingdom, nervous system diseases, MESH: France, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, MESH: Internationality, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, MESH: Europe, business, 030217 neurology & neurosurgery
Abstract

Background The objective of this study was to describe the diagnostic panorama of human transmissible spongiform encephalopathies across 11 countries. Methods From data collected for surveillance purposes, we describe annual proportions of deaths due to different human transmissible spongiform encephalopathies in eleven EUROCJD-consortium countries over the period 1993–2002, as well as variations in the use of diagnostic tests. Using logistic models we quantified international differences and changes across time. Results In general, pre-mortem use of diagnostic investigations increased with time. International differences in pathological confirmation of sporadic Creutzfeldt-Jakob disease, stable over time, were evident. Compared to their counterparts, some countries displayed remarkable patterns, such as: 1) the high proportion, increasing with time, of variant Creutzfeldt-Jakob disease in the United Kingdom, (OR 607.99 95%CI 84.72–4363.40), and France (OR 18.35, 95%CI 2.20–152.83); 2) high, decreasing proportions of iatrogenic Creutzfeldt-Jakob disease in France, (OR 5.81 95%CI 4.09–8.24), and the United Kingdom, (OR 1.54 95%CI 1.03–2.30); and, 3) high and stable ratios of genetic forms in Slovakia (OR 21.82 95%CI 12.42–38.33) and Italy (OR 2.12 95%CI 1.69–2.68). Conclusion Considerable international variation in aetiological subtypes of human transmissible spongiform encephalopathies was evident over the observation period. With the exception of variant Creutzfeldt-Jakob disease and iatrogenic Creutzfeldt-Jakob disease in France and the United Kingdom, these differences persisted across time.

Published
2006

41. Manic depressive illness in a founder population

Author

Evelyne Heyer, Cesare Perri, Bruno Toupance, Jean-François Foncin, Ornella De Vito, Amalia C. Bruni, Eco-Anthropologie et Ethnobiologie (EAE), and Muséum national d'Histoire naturelle (MNHN)-Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS)

Subjects
Proband, Bipolar Disorder, MESH: Pedigree, Population, Population genetics, MESH: Genetics, Population, Close relatives, MESH: Founder Effect, Identity by descent, 03 medical and health sciences, 0302 clinical medicine, MESH: Inbreeding, MESH: Bipolar Disorder, Genetics, medicine, Humans, Inbreeding, Bipolar disorder, education, Genetics (clinical), 0303 health sciences, education.field_of_study, MESH: Humans, [SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE], integumentary system, 030305 genetics & heredity, MESH: Italy, medicine.disease, Founder Effect, Pedigree, Genetics, Population, Geography, Italy, Manic-depressive illness, 030217 neurology & neurosurgery, Demography, Founder effect
Abstract

International audience; Manic depressive illness (MDI) segregates within a founder population originating from S, a mountain village in Southern Italy. Identity by descent of affected persons cannot be established by direct genealogical methods. A 56 000 persons family reconstruction data base encompasses the whole population of S in the 17th and 18th centuries, and part of the population of S and neighbouring villages in the 19th and 20th centuries. We selected 10 MDI probands who were members of the S population and not evident close relatives of each other. A total of 10 other MDI probands not evidently related to the S population formed a first control group. A second control group was formed with 10 not closely related persons originating within the S population. We determined the founders common ancestors to all the probands of one group but not ancestors to the probands of other groups, and computed the genetic contribution of each founder to each proband. The distance between probands in the S MDI group was calculated with respect to all the founders. In all, 17 founders present in the ascendancy of all individuals of the S MDI group are not present in the ascendancy of the control groups: MDI patients are derived from a subpopulation within S. Two S MDI probands are far from one another in respect of the 'nonspecific' founders, but are very close in respect of the specific founders: a putative MDI trait originated from specific founders of the MDI subpopulation, and hence is identical by descent in the S population.

Published
2003

42. Dietary habit profile in European communities with different risk of myocardial infarction: the impact of migration as a model of gene-environment interaction. The IMMIDIET Study

Author

Iacoviello, Licia, Arnout, J, Buntinx, F, Cappuccio, Fp, Dagnelie, Pc, de Lorgeril, M, Dirckx, C, Donati, Mb, Krogh, V, Siani, A, European Collaborative Group of the IMMIDIET Project, Techniques de l'Ingénierie Médicale et de la Complexité - Informatique, Mathématiques et Applications, Grenoble - UMR 5525 (TIMC-IMAG), VetAgro Sup - Institut national d'enseignement supérieur et de recherche en alimentation, santé animale, sciences agronomiques et de l'environnement (VAS)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP )-Centre National de la Recherche Scientifique (CNRS)-Université Joseph Fourier - Grenoble 1 (UJF), Department of Preventive & Predictive Medicine, Italian National Center Institute, Physics Department, Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome], Huisartsgeneeskunde, Epidemiologie, RS: NUTRIM School of Nutrition and Translational Research in Metabolism, and RS: CAPHRI School for Public Health and Primary Care

Subjects
Polymorphism, Genetic, MESH: Humans, MESH: Emigration and Immigration, Myocardial Infarction, MESH: Italy, MESH: Food Habits, Feeding Behavior, Emigration and Immigration, Environment, Europe, MESH: Myocardial Infarction, Belgium, Italy, MESH: Belgium, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Risk Factors, MESH: Risk Factors, MESH: Polymorphism, Genetic, Prevalence, Humans, MESH: Obesity, Obesity, MESH: Europe, MESH: Environment, MESH: Prevalence
Abstract

Dietary habit profile in European communities with different risk of myocardial infarction: the impact of migration as a model of gene-environment interaction. The IMMIDIET Study. Iacoviello L, Arnout J, Buntinx F, Cappuccio FP, Dagnelie PC, de Lorgeril M, Dirckx C, Donati MB, Krogh V, Siani A; European Collaborative Group of the IMMIDIET Project. Department of Vascular Medicine and Pharmacology, Consorzio Mario Negri Sud, Santa Maria Imbaro, Italy. iaco@cmns..mnegri.it The risk of myocardial infarction (MI) is lower in southern than in northern European countries. The lower rate of MI in the Mediterranean regions of Europe suggested a potential role of the traditional Mediterranean diet in the prevention of MI. Unfortunately, in the last 20 years, a tendency to adopt Westernised food habits even in southern regions of Europe is reflected by an increase in the prevalence of obesity. Therefore the impact of diet on MI risk profile among European populations needs to be reconsidered. Genetic risk factors have also been implicated in the development of MI. Genes, indeed, continuously interact with environmental factors in determining the pathogenesis of MI. The aims of the IMMIDIET study are to evaluate: 1. The present dietary habits and the risk profile of three European communities at different risk of MI; 2. The impact of migration on risk factors for MI. Dietary habits and genetic polymorphisms will be evaluated in an Italian, Belgian and British population sample. The historical Italian migration to Belgium and the integration through mixed marriage will be considered as a model of gene-environment interaction. As an index of MI risk profile, factors that are most likely under the combined influence of both dietary and genetic determinants will be investigated.

Published
2001

43. Setting of Methods for Analysis of Mucosal Antibodies in Seminal and Vaginal Fluids of HIV Seropositive Subjects from Cambodian and Italian Cohorts

Author

Marie Ngyen, L. Diomede, Giulia Gallotta, Davide Ferrari, Janin Nouhin, Lorenza Scotti, Giovanni Corrao, Cinzia Bisighini, Gianfranco Pancino, Lucia DeSantis, Carla Donadoni, Lucia Lopalco, Antonella Zambon, Division of Immunology, Infectious Diseases and Transplantation, San Raffaele Scientific Institute, Department of Statistics, Università degli Studi di Milano-Bicocca [Milano] (UNIMIB), Institut Pasteur du Cambodge, Réseau International des Instituts Pasteur (RIIP), Department of Obsterics and Gynaecology, San Raffaele Scientific Institute-University Vita Salute, Department of Infectious Diseases, Régulation des Infections Rétrovirales, Institut Pasteur [Paris], Università degli Studi di Milano-Bicocca = University of Milano-Bicocca (UNIMIB), Institut Pasteur [Paris] (IP), Donadoni, C, Bisighini, C, Scotti, L, Diomede, L, Ngyen, M, Nouhin, J, Desantis, L, Zambon, A, Ferrari, D, Gallotta, G, Corrao, G, Pancino, G, and Lopalco, L

Subjects
Male, Immunoglobulin A, HIV Infections, MESH: Body Fluids, Cohort Studies, 0302 clinical medicine, Vaginal Fluid, HIV Seropositivity, 030212 general & internal medicine, MESH: Cohort Studies, Virology/Vaccines, 0303 health sciences, MESH: Middle Aged, Multidisciplinary, biology, MESH: Enzyme-Linked Immunosorbent Assay, Mucous membrane, MESH: HIV Infections, Middle Aged, Infectious Diseases/HIV Infection and AIDS, Body Fluids, 3. Good health, medicine.anatomical_structure, Italy, Vagina, Medicine, Female, Antibody, Cambodia, Research Article, Adult, Science, Enzyme-Linked Immunosorbent Assay, Semen, Antibodies, 03 medical and health sciences, MESH: HIV Seropositivity, Immune system, Immunity, Immunology/Immunity to Infections, Infectious Diseases/Viral Infections, Infectious Diseases/Sexually Transmitted Diseases, medicine, Humans, Seminal fluid, MESH: Immunoglobulin A, MESH: Semen, 030304 developmental biology, Antiserum, MESH: Humans, Mucous Membrane, MESH: Antibodies, MESH: Cambodia, HIV, MESH: Italy, MESH: Mucous Membrane, MESH: Adult, MESH: Male, MESH: Vagina, Immunology/Immune Response, Immunology, Mucosal Antibodie, biology.protein, Virology/Host Antiviral Responses, MESH: Female, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract

BackgroundGenital mucosae play a key role in protection from STD and HIV infection, due to their involvement in both horizontal and vertical disease transmission. High variability of published observations concerning IgA isolation and quantification underlies the strong requirement of specific methods able to maximize investigation on HIV-specific IgA.MethodologyGenital fluids from 109 subjects, including male and female cohorts from Italy and Cambodia, were collected, aliquoted and processed with different techniques, to assess optimal conditions maximizing mucosal antibody recovery. Three sampling techniques, up to sixteen preservation conditions, six ELISA methods and four purifications protocols were compared.Principal findingsThe optimal method here described took advantage of Weck-Cel sampling of female mucosal fluids. Immediate processing of genital fluids, with the addition of antibiotics and EDTA, improved recovery of vaginal IgA, while the triple addition of EDTA, antibiotics and protease inhibitors provided the highest amount of seminal IgA. Due to low amount of IgA in mucosal fluids, a high sensitive sandwich ELISA assay was set; sensitivity was enhanced by milk-based overcoating buffer and by a two-step biotin-streptavidin signal amplification. Indeed, commercial antisera to detect human immunoglobulins showed weak cross-reactivity to different antibody types. Three-step affinity purification provided reproducible immunoglobulin recovery from genital specimens, while conventional immuno-affinity IgA purification was found poorly manageable. Affinity columns were suitable to isolate mucosal IgA, which are ten-fold less concentrated than IgG in genital specimens, and provided effective separation of IgA monomers, dimers, and J-chains. Jacalin-bound resin successfully separated IgA1 from IgA2 subfraction.Conclusions/significanceSpecific, effective and reliable methods to study local immunity are key items in understanding host mucosal response. The sequence of methods here described is effective and reliable in analysing humoral local responses, and may provide a solid advance to identify and measure the effective mucosal responses to HIV.

Published
2010

44. [Program for carrying out a campaign of controlled measles vaccination in a local area]

Author

Santoro, R., Polo, M., Rigoli, E., Scardellato, U., Annesi, I., Grandolfo, M. E., Novello, F., Servicio de Hematología, Hospital Clínico San Carlos, Epidémiologie des maladies infectieuses et modélisation (ESIM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), and Annesi-Maesano, Isabella

Subjects
MESH: Humans, Measles Vaccine, MESH: Child, Preschool, MESH: Measles Vaccine, Infant, MESH: Italy, Antibodies, Viral, MESH: Patient Compliance, MESH: Infant, MESH: Health Education, Italy, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, Measles virus, Child, Preschool, MESH: Child, MESH: Measles, Humans, Patient Compliance, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Child, Health Education, MESH: Measles virus, ComputingMilieux_MISCELLANEOUS, MESH: Antibodies, Viral, Measles
Abstract

International audience

Published
1982

45. Measles epidemiology in Italy

Author

R Santoro, M Rapicetta, F M Ruggeri, I. Annesi, Massimo Battaglia, C. M. Cortellessa, M.E. Grandolfo, Annesi-Maesano, Isabella, European Organization for Nuclear Research (CERN), Epidémiologie des maladies infectieuses et modélisation (ESIM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), R Santoro, FM Ruggeri, M Battaglia, M Rapicetta, Grandolfo ME, Annesi I, and CM Cortellessa .

Subjects
MESH: Socioeconomic Factors, medicine.medical_specialty, Pediatrics, Adolescent, Urban Population, Epidemiology, Developing country, Measles, Antibodies, MESH: Child, Medicine, Humans, Child, Socioeconomic status, MESH: Adolescent, MESH: Age Factors, Immune status, MESH: Humans, business.industry, MESH: Antibodies, MESH: Child, Preschool, MESH: Infant, Newborn, Age Factors, Infant, Newborn, MESH: Italy, Infant, General Medicine, Seroepidemiologic Studies, medicine.disease, MESH: Infant, Immunity, Innate, MESH: Urban Population, Immunization, Italy, Socioeconomic Factors, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, Child, Preschool, MESH: Measles, MESH: Immunization, MESH: Immunity, Innate, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Mass vaccination, business, Demography
Abstract

International audience; In preparation for a mass vaccination programme, the immune status with regard to measles was determined in over 8300 unvaccinated children aged 0-13 years, residing in eight Italian cities with different socioeconomic situations and geographical locations. The age corresponding to the 50% prevalence of immunes appeared to be intermediate (2.9-5.5 years) between that reported for industrialized (6-7 years) and developing countries (1-2 years). The 50% prevalence of natural immunity was reached at an earlier age in southern cities in which poorer socioeconomic and hygienic conditions prevailed; the earlier occurrence of measles in these areas was confirmed by a more detailed serological study of children in the first 24 months of life. For children aged 2-13 years, serological results showed that the history of measles reported by parents on questionnaires gave high positive predictive values (over 85%). Our seroepidemiological study shows that, on the basis of the ages of 25 and 75% prevalence of immunes, the target population for a mass immunization programme in Italy can be assumed to be aged from 12 months to 7 years. However, special attention should be given to the poorest areas, especially in southern Italy, where measles occurs earlier and can be particularly severe.

Published
1984

46. [Analysis of infant mortality rates 1970-1979 in Naples. Mathematical models]

Author

M E, Grandolfo, I, Annesi, N, De Ruggiero, Epidémiologie des maladies infectieuses et modélisation (ESIM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), and Annesi-Maesano, Isabella

Subjects
MESH: Humans, Respiratory Tract Diseases, Infant, MESH: Italy, MESH: Infant, Italy, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, Infant Mortality, Humans, MESH: Infant Mortality, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Seasons, MESH: Respiratory Tract Diseases, MESH: Seasons, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
1981

47. Serum antibodies to poliomyelitis in Italy

Author

Santoro, R., Lombardi, F., Novello, F., Amato, C., Ruggeri, F. M., Grandolfo, M. E., Annesi, I., Cortellessa, C. M., Timperi, F., Inglese, R., Instituto Superiore di Sanita Roma, Epidémiologie des maladies infectieuses et modélisation (ESIM), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), R Santoro, Lombardi F, F Novello, C Amato, FM Ruggeri, Grandolfo ME, Annesi I, Cortellessa CM, Timperi F, R Inglese, and Annesi-Maesano, Isabella

Subjects
MESH: Adolescent, Adult, MESH: Humans, Adolescent, Research, MESH: Child, Preschool, MESH: Italy, Infant, MESH: Adult, Antibodies, Viral, MESH: Infant, Italy, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, MESH: Child, Child, Preschool, MESH: Poliomyelitis, Humans, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Child, MESH: Antibodies, Viral, Poliomyelitis
Abstract

International audience; A seroepidemiological survey was conducted to assess the effectiveness of the Italian nationwide immunization programme against poliomyelitis. Over 3800 serum samples were collected from persons, aged between 6 months and 79 years and residing in urban and rural areas with different socioeconomic conditions and geographic locations.A very high level of protection was found in the target population, confirming the almost 100% history of complete immunization. Almost all subjects over 30 years of age were found to have poliovirus antibodies, although they had never been vaccinated. In Naples, a higher proportion of subjects susceptible to all 3 types of virus was found in the age group 6-23 months, suggesting a delay in the administration of vaccine. This was confirmed by the analysis of the immunization history. No difference was observed between urban and rural areas, in either serological results or history of immunization.The results confirmed the higher immunogenicity of poliovirus type 2 with respect to the other two types, the effectiveness of the vaccine, and, finally, the efficiency of the operational procedures adopted for its administration.

Published
1984

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