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6 results on '"MESH: Pathology, Molecular"'

1. Confirming Autochthonous Buruli Ulcer Cases in Burkina Faso, West Africa

Author

Nassim Hammoudi, Sylvain Godreuil, Amar Bouam, Michel Drancourt, Dezemon Zingue, Anselme Millogo, Assistance Publique - Hôpitaux de Marseille (APHM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Centre Hospitalier Universitaire Souro Sanou [Bobo-Dioulasso] (CHUSS), Maladies infectieuses et vecteurs : écologie, génétique, évolution et contrôle (MIVEGEC), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Recherche pour le Développement (IRD [France-Sud]), Centre Muraz [Bobo-Dioulasso, Burkina Faso], Microbes évolution phylogénie et infections (MEPHI), and Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS)

Subjects
Male, Rural Population, Buruli ulcer, Endemic Diseases, MESH: Mycobacterium ulcerans, West africa, MESH: Rural Population, MESH: Buruli Ulcer, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Epidemiology, Pathology, Molecular, skin and connective tissue diseases, Buruli Ulcer, health care economics and organizations, MESH: Middle Aged, biology, MESH: Real-Time Polymerase Chain Reaction, Articles, Middle Aged, Infectious Diseases, Geography, MESH: Young Adult, Mycobacterium ulcerans, MESH: Endemic Diseases, Female, Adult, medicine.medical_specialty, Adolescent, MESH: Cote d'Ivoire, MESH: Disease Transmission, Infectious, Real-Time Polymerase Chain Reaction, Young Adult, Virology, Burkina Faso, parasitic diseases, Disease Transmission, Infectious, medicine, Humans, MESH: Burkina Faso, MESH: Pathology, Molecular, MESH: Adolescent, MESH: Humans, MESH: Adult, bacterial infections and mycoses, biology.organism_classification, medicine.disease, Dermatology, MESH: Male, Cote d'Ivoire, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Parasitology, MESH: Female, [SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology
Abstract

Environmental Mycobacterium ulcerans causes a disabling skin disease called Buruli ulcer. Recent studies completed the knowledge of the evolving geographic extension and epidemiology of Buruli ulcer in West Africa, where Côte d’Ivoire is reporting the highest number of cases. We report seven polymerase chain reaction-documented patients in Burkina Faso, a neighboring country of Côte d’Ivoire, where previously Buruli ulcer cases were confirmed primarily using clinical arguments.

Published
2021
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2. The 2021 WHO classification of tumors of the central nervous system: A summary

Author

Andreas von Deimling, Arie Perry, Ho Keung Ng, David N. Louis, David W. Ellison, Dominique Figarella-Branger, Guido Reifenberger, Riccardo Soffietti, Cynthia Hawkins, Pieter Wesseling, Daniel J. Brat, Stefan M. Pfister, Ian A. Cree, Pathology, CCA - Imaging and biomarkers, Institut de neurophysiopathologie (INP), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Service d'Anatomie Pathologique et de Neuropathologie [Hôpital de la Timone - CHU - APHM], and Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)

Subjects
Central Nervous System, Cancer Research, diagnosis, WHO Classification Summary, [SDV]Life Sciences [q-bio], MESH: World Health Organization, MESH: Central Nervous System Neoplasms, Central Nervous System Neoplasms, 0302 clinical medicine, Pathology, Medicine, Pathology, Molecular, Cancer, 0303 health sciences, Brain, 3. Good health, medicine.anatomical_structure, Oncology, classification, 030220 oncology & carcinogenesis, brain tumor, Central nervous system, Oncology and Carcinogenesis, Brain tumor, World Health Organization, central nervous system, Humans, brian tumor, 03 medical and health sciences, MESH: Brain, Rare Diseases, Taxonomy (general), MESH: Central Nervous System, CNS TUMORS, Oncology & Carcinogenesis, Letters to the Editor, Grading (tumors), 030304 developmental biology, MESH: Pathology, Molecular, MESH: Humans, business.industry, Neurosciences, Molecular, medicine.disease, Brain Disorders, Brain Cancer, Neurology (clinical), Who classification, business, Neuroscience
Abstract

The fifth edition of the WHO Classification of Tumors of the Central Nervous System (CNS), published in 2021, is the sixth version of the international standard for the classification of brain and spinal cord tumors. Building on the 2016 updated fourth edition and the work of the Consortium to Inform Molecular and Practical Approaches to CNS Tumor Taxonomy, the 2021 fifth edition introduces major changes that advance the role of molecular diagnostics in CNS tumor classification. At the same time, it remains wedded to other established approaches to tumor diagnosis such as histology and immunohistochemistry. In doing so, the fifth edition establishes some different approaches to both CNS tumor nomenclature and grading and it emphasizes the importance of integrated diagnoses and layered reports. New tumor types and subtypes are introduced, some based on novel diagnostic technologies such as DNA methylome profiling. The present review summarizes the major general changes in the 2021 fifth edition classification and the specific changes in each taxonomic category. It is hoped that this summary provides an overview to facilitate more in-depth exploration of the entire fifth edition of the WHO Classification of Tumors of the Central Nervous System.

Published
2021
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3. De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features

Author

Bertrand Isidor, Rami Abou Jamra, Virginie Carmignac, Yannis Duffourd, Helio Pedro, Eriko Koshimizu, Maja Hempel, Tobias Bartolomaeus, Martin Chevarin, Floor A. M. Duijkers, Maria J. Guillen Sacoto, Erin Torti, David Geneviève, David J. Harris, Valerie Loik Ramey, Klaske D. Lichtenbelt, Arthur Sorlin, Miriam Maik, Anne Guimier, Paul Kuentz, Tatjana Bierhals, Orly Elpeleg, Yoshiko Murakami, Laurence Faivre, Jean Baptiste Rivière, Jill Clayton-Smith, Laurent Pasquier, Yuichi Abe, Edgard Verdura, Aviva Fattal, Judith St-Onge, Daphné Lehalle, Joerg Betschinger, Krista Sondergaard-Schatz, Laurie Simone, Christa W. Habela, Ivon Cusco, Mieke M. van Haelst, Pierre Vabres, Laurence Duplomb, Magali Avila, Sakoto Miyakate, Koen L.I. van Gassen, Julien Thevenon, Eveline S. J. M. de Bont, Benjamin Cogné, Pia Zacher, Silvana van Koningsbruggen, Thibaud Jouan, Irene Valenzuela, Christel Thauvin-Robinet, Salvy-Córdoba, Nathalie, FHU TRANSLAD (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service de Génétique médicale [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), Equipe GAD (LNC - U1231), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf [Hamburg] (UKE), GeneDx [Gaithersburg, MD, USA], National Center for Child Health and Development [Tokyo], University Hospital Leipzig, Manchester Centre for Genomic Medicine [Manchester, UK] (MCGM), St Mary's Hospital Manchester-Manchester Academic Health Science Centre (MAHSC), University of Manchester [Manchester]-University of Manchester [Manchester]-Manchester University NHS Foundation Trust (MFT)-Faculty of Biology, Medicine and Health [Manchester, UK], University of Manchester [Manchester], Centre hospitalier universitaire de Nantes (CHU Nantes), Unité de recherche de l'institut du thorax (ITX-lab), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), Vall d'Hebron University Hospital [Barcelona], University Medical Center Groningen [Groningen] (UMCG), VU University Medical Center [Amsterdam], Department of Genetics and Metabolic Diseases and the Monique and Jacques Roboh Department of Genetic Research, Hadassah Hebrew University Medical Center [Jerusalem], Tel Aviv Sourasky Medical Center [Te Aviv], Département de génétique médicale, maladies rares et médecine personnalisée [CHRU Montpellier], Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Boston Children's Hospital, Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Brain Centre Rudolf Magnus [Utrecht], University Medical Center [Utrecht], Hackensack University Medical Center [Hackensack], Yokohama City University (YCU), Osaka University [Osaka], CHU Pontchaillou [Rennes], Johns Hopkins University School of Medicine [Baltimore], Child Health and Human Development Program [Montréal, QC, Canada], McGill University Health Center [Montreal] (MUHC), Centre Hospitalier Universitaire [Grenoble] (CHU), University Hospital Erlangen = Uniklinikum Erlangen, Department of Clinical Genetics, Academic Medical Centre, Amsterdam, Institut d'Investigació Biomèdica de Bellvitge [Barcelone] (IDIBELL), CIBER de Enfermedades Raras (CIBERER), Kleinwachau - Saxon Epilepsy Center Radeberg, Department of Human Genetics [Montréal], McGill University = Université McGill [Montréal, Canada], Friedrich Miescher Institute for Biomedical Research (FMI), Novartis Research Foundation, Human Genetics, ACS - Pulmonary hypertension & thrombosis, ARD - Amsterdam Reproduction and Development, Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, and Amsterdam Reproduction & Development (AR&D)

Subjects
0301 basic medicine, MESH: Basic Helix-Loop-Helix Leucine Zipper Transcription Factors, [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Intellectual disability, TFE3, Biology, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, MESH: Intellectual Disability, 03 medical and health sciences, Exon, 0302 clinical medicine, MESH: Whole Exome Sequencing, MESH: Child, Genetics, medicine, Missense mutation, Gene, Genetics (clinical), Exome sequencing, Pigmentary mosaicism, MESH: Pathology, Molecular, MESH: Adolescent, MESH: Humans, Alternative splicing, Lysosomal metabolism, MESH: Child, Preschool, [SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, MESH: Adult, medicine.disease, Phenotype, MESH: Infant, MESH: Male, Storage disorder, 030104 developmental biology, MESH: Genes, X-Linked, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, MESH: Young Adult, MESH: Epilepsy, MESH: Mosaicism, MESH: Pigmentation Disorders, MESH: Female, 030217 neurology & neurosurgery
Abstract

IntroductionPigmentary mosaicism (PM) manifests by pigmentation anomalies along Blaschko’s lines and represents a clue toward the molecular diagnosis of syndromic intellectual disability (ID). Together with new insights on the role for lysosomal signalling in embryonic stem cell differentiation, mutations in the X-linked transcription factor 3 (TFE3) have recently been reported in five patients. Functional analysis suggested these mutations to result in ectopic nuclear gain of functions.Materials and methodsSubsequent data sharing allowed the clustering of de novo TFE3 variants identified by exome sequencing on DNA extracted from leucocytes in patients referred for syndromic ID with or without PM.ResultsWe describe the detailed clinical and molecular data of 17 individuals harbouring a de novo TFE3 variant, including the patients that initially allowed reporting TFE3 as a new disease-causing gene. The 12 females and 5 males presented with pigmentation anomalies on Blaschko’s lines, severe ID, epilepsy, storage disorder-like features, growth retardation and recognisable facial dysmorphism. The variant was at a mosaic state in at least two male patients. All variants were missense except one splice variant. Eleven of the 13 variants were localised in exon 4, 2 in exon 3, and 3 were recurrent variants.ConclusionThis series further delineates the specific storage disorder-like phenotype with PM ascribed to de novo TFE3 mutation in exons 3 and 4. It confirms the identification of a novel X-linked human condition associated with mosaicism and dysregulation within the mechanistic target of rapamycin (mTOR) pathway, as well as a link between lysosomal signalling and human development.

Published
2020
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4. Measurement of Telomere Length in Colorectal Cancers for Improved Molecular Diagnosis

Author

Balc'h, Eric Le, Grandin, Nathalie, Demattei, Marie-Véronique, Guyétant, Serge, Tallet, Anne, Pagès, Jean-Christophe, Ouaïssi, Mehdi, Lecomte, Thierry, Charbonneau, Michel, Département d'hépato-gastro-entérologie [Hôpital Trousseau : CHRU Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Génétique, immunothérapie, chimie et cancer (GICC), UMR 7292 CNRS [2012-2017] (GICC UMR 7292 CNRS), Université de Tours-Centre National de la Recherche Scientifique (CNRS), Génétique, Reproduction et Développement (GReD), Centre National de la Recherche Scientifique (CNRS)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Trousseau [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), 'LIGUE Grand-Ouest contre le Cancer, comités départementaux d’Eure-et-Loir, Ille-et-Vilaine, Indre, Indre-et-Loire, Morbihan, Vendée, Vienne' (grant #LIGUE-GO-Charbonneau) and the 'Fondation de France' (grant #2011-00020358) to Michel Charbonneau, Université de Tours (UT)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours)-CHU Trousseau [APHP], Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), Génétique, Reproduction et Développement - Clermont Auvergne (GReD), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne (UCA)-Centre National de la Recherche Scientifique (CNRS)

Subjects
Male, Proto-Oncogene Proteins B-raf, KRAS mutations, MESH: Mutation, Class I Phosphatidylinositol 3-Kinases, [SDV]Life Sciences [q-bio], [SDV.CAN]Life Sciences [q-bio]/Cancer, colorectal cancer, [SDV.BC.BC]Life Sciences [q-bio]/Cellular Biology/Subcellular Processes [q-bio.SC], Article, MESH: Telomere Homeostasis, Proto-Oncogene Proteins p21(ras), lcsh:Chemistry, MESH: Proto-Oncogene Proteins p21(ras), Biomarkers, Tumor, telomere length, Humans, Pathology, Molecular, lcsh:QH301-705.5, MESH: Pathology, Molecular, MESH: Proto-Oncogene Proteins B-raf, MESH: Humans, Telomere Homeostasis, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Telomere, MESH: Class I Phosphatidylinositol 3-Kinases, MESH: Male, lcsh:Biology (General), lcsh:QD1-999, telomere restriction fragment analysis, Mutation, Female, Microsatellite Instability, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, MESH: Biomarkers, Tumor, MESH: Telomere, Colorectal Neoplasms, MESH: Female, MESH: Colorectal Neoplasms, MESH: Microsatellite Instability
Abstract

International audience; All tumors have in common to reactivate a telomere maintenance mechanism to allow for unlimited proliferation. On the other hand, genetic instability found in some tumors can result from the loss of telomeres. Here, we measured telomere length in colorectal cancers (CRCs) using TRF (Telomere Restriction Fragment) analysis. Telomeric DNA content was also quantified as the ratio of total telomeric (TTAGGG) sequences over that of the invariable Alu sequences. In most of the 125 CRCs analyzed, there was a significant diminution in telomere length compared with that in control healthy tissue. Only 34 tumors exhibited no telomere erosion and, in some cases, a slight telomere lengthening. Telomere length did not correlate with age, gender, tumor stage, tumor localization or stage of tumor differentiation. In addition, while telomere length did not correlate with the presence of a mutation in BRAF (V-raf murine sarcoma viral oncogene homolog B), PIK3CA (phosphatidylinositol 3-kinase catalytic subunit), or MSI status, it was significantly associated with the occurrence of a mutation in KRAS. Interestingly, we found that the shorter the telomeres in healthy tissue of a patient, the larger an increase in telomere length in the tumor. Our study points to the existence of two types of CRCs based on telomere length and reveals that telomere length in healthy tissue might influence telomere maintenance mechanisms in the tumor.

Published
2017
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5. Molecular diagnosis of polycystic echinococcosis due to Echinococcus vogeli in a Paraguayan immigrant in Argentina

Author

Laurence Millon, Arnault Cazorla, Marcelo Amante, M. L. Pestalardo, Solange Bresson-Hadni, J. Alvarez Rodriguez, Frédéric Grenouillet, Bernardo Frider, Laboratoire Chrono-environnement - CNRS - UBFC (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), Service de parasitologie et mycologie [CHRU de Besançon], Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Laboratoire Chrono-environnement ( LCE ), Université Bourgogne Franche-Comté ( UBFC ) -Centre National de la Recherche Scientifique ( CNRS ) -Université de Franche-Comté ( UFC ), Parasitologie-Mycologie CHU Besançon, and Centre Hospitalier Régional Universitaire [Besançon] ( CHRU Besançon )

Subjects
Male, MESH: Histocytochemistry, Pathology, MESH : Pathology, Molecular, MESH : Argentina, MESH : Aged, MESH: Echinococcus, Case Reports, MESH : Blotting, Western, MESH: Molecular Diagnostic Techniques, MESH : Echinococcosis, 0302 clinical medicine, Liver tissue, MESH : Tomography, X-Ray Computed, Molecular diagnostic techniques, MESH : Echinococcus, MESH: Animals, Pathology, Molecular, MESH: Paraguay, [ SDV.MP.MYC ] Life Sciences [q-bio]/Microbiology and Parasitology/Mycology, [SDV.MP.MYC]Life Sciences [q-bio]/Microbiology and Parasitology/Mycology, MESH: Aged, MESH: Immunoglobulin G, 0303 health sciences, biology, Histocytochemistry, MESH: Argentina, MESH : Paraguay, Echinococcosis, MESH: Emigrants and Immigrants, 3. Good health, Liver, Molecular Diagnostic Techniques, MESH: Tomography, X-Ray Computed, Microbiology (medical), Radiography, Abdominal, medicine.medical_specialty, MESH : Immunoglobulin G, MESH : Male, 030231 tropical medicine, Blotting, Western, Antibodies, Helminth, Argentina, Emigrants and Immigrants, Parasitic infection, Echinococcus vogeli, 03 medical and health sciences, MESH: Echinococcosis, MESH: Antibodies, Helminth, parasitic diseases, medicine, Animals, Humans, MESH: Blotting, Western, Molecular identification, Aged, MESH : Antibodies, Helminth, MESH: Pathology, Molecular, MESH: Humans, 030306 microbiology, business.industry, MESH : Humans, MESH : Liver, MESH : Radiography, Abdominal, biology.organism_classification, medicine.disease, Virology, MESH: Male, Echinococcus, Tomography x ray computed, Paraguay, Immunoglobulin G, MESH : Emigrants and Immigrants, MESH: Radiography, Abdominal, MESH : Animals, MESH : Histocytochemistry, business, Tomography, X-Ray Computed, MESH : Molecular Diagnostic Techniques, MESH: Liver
Abstract

Polycystic echinococcosis due to Echinococcus vogeli is a rare parasitic infection that occurs in rural areas of Central and South America. Only molecular identification performed on formalin-fixed paraffin-embedded liver tissue samples gave an unequivocal diagnosis of this disease in a Paraguayan immigrant in Argentina.

Published
2013
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6. Comprehensive diagnostic strategy for blood culture-negative endocarditis: a prospective study of 819 new cases

Author

Jean-Paul Casalta, Pierre-Edouard Fournier, Jean-Pierre Arzouni, Franck Thuny, Hervé Richet, Didier Raoult, Jean-Luc Mainardi, Marie Célard, Thierry Caus, Gilbert Habib, Frederic Collart, Max Maurin, Hubert Lepidi, Unité de Recherche sur les Maladies Infectieuses et Tropicales Emergentes (URMITE), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR48, INSB-INSB-Centre National de la Recherche Scientifique (CNRS), Service de cardiologie, Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Fédération de Microbiologie Clinique, Hôpital de la Timone [CHU - APHM] (TIMONE), Laboratoire Adaptation et pathogénie des micro-organismes [Grenoble] (LAPM), Centre National de la Recherche Scientifique (CNRS)-Université Joseph Fourier - Grenoble 1 (UJF), CHU Grenoble, Université Joseph Fourier - Grenoble 1 (UJF)-CHU Grenoble, Laboratoire de microbiologie, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Université Paris Descartes - Paris 5 (UPD5), Affectations Mineralisantes du Systeme Cardiovasculaire : Calcifications Arterielles et Valvulaires Aortiques, Université de Picardie Jules Verne (UPJV)-Institut National de la Santé et de la Recherche Médicale (INSERM), Chirurgie cardiaque, CHU Amiens-Picardie, Unité de Recherche sur les Maladies Infectieuses et Tropicales Emergentes ( URMITE ), Institut de Recherche pour le Développement ( IRD ) -Aix Marseille Université ( AMU ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -IFR48, INSB-INSB-Centre National de la Recherche Scientifique ( CNRS ), Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille ( APHM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ), Hôpital de la Timone [CHU - APHM] ( TIMONE ), Laboratoire Adaptation et pathogénie des micro-organismes [Grenoble] ( LAPM ), Université Joseph Fourier - Grenoble 1 ( UJF ) -Centre National de la Recherche Scientifique ( CNRS ), Université Joseph Fourier - Grenoble 1 ( UJF ) -CHU Grenoble, Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Européen Georges Pompidou [APHP] ( HEGP ) -Université Paris Descartes - Paris 5 ( UPD5 ), Université de Picardie Jules Verne ( UPJV ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Université Joseph Fourier - Grenoble 1 (UJF)-Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital Européen Georges Pompidou [APHP] (HEGP), Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Université Paris Descartes - Paris 5 (UPD5), and Institut des sciences biologiques (INSB-CNRS)-Institut des sciences biologiques (INSB-CNRS)-Centre National de la Recherche Scientifique (CNRS)

Subjects
Male, MESH: Endocarditis, MESH : Molecular Sequence Data, MESH : Pathology, Molecular, MESH : Immunohistochemistry, MESH : Prospective Studies, MESH : Aged, MESH: Molecular Diagnostic Techniques, 030204 cardiovascular system & hematology, Polymerase Chain Reaction, Serology, 0302 clinical medicine, MESH: Aged, 80 and over, MESH : Child, Neoplasms, MESH: Autoimmune Diseases, MESH: Child, Blood culture, MESH : Female, MESH: Neoplasms, 030212 general & internal medicine, Prospective Studies, Pathology, Molecular, Child, MESH : Polymerase Chain Reaction, Aged, 80 and over, Immunoassay, MESH: Aged, MESH: Middle Aged, medicine.diagnostic_test, biology, Endocarditis, [SDV.BID.EVO]Life Sciences [q-bio]/Biodiversity/Populations and Evolution [q-bio.PE], Bacterial Infections, Middle Aged, MESH : Adult, MESH : Immunoassay, Immunohistochemistry, MESH : Endocarditis, 3. Good health, MESH : Bacterial Infections, Infectious Diseases, [ SDV.BID.EVO ] Life Sciences [q-bio]/Biodiversity/Populations and Evolution [q-bio.PE], Molecular Diagnostic Techniques, MESH: Young Adult, Female, MESH: Immunoassay, Bartonella Infection, Microbiology (medical), Bartonella, Adult, Adolescent, MESH: Bacterial Infections, MESH : Male, Molecular Sequence Data, MESH : Young Adult, Q fever, Autoimmune Diseases, Tropheryma whipplei, 03 medical and health sciences, Young Adult, MESH : Autoimmune Diseases, MESH : Adolescent, medicine, Humans, MESH : Middle Aged, MESH : Aged, 80 and over, Aged, MESH: Pathology, Molecular, MESH: Adolescent, MESH: Molecular Sequence Data, MESH: Humans, business.industry, MESH : Humans, MESH: Adult, MESH: Immunohistochemistry, MESH: Polymerase Chain Reaction, medicine.disease, biology.organism_classification, Coxiella burnetii, Virology, MESH : Neoplasms, MESH: Male, MESH: Prospective Studies, business, MESH: Female, MESH : Molecular Diagnostic Techniques
Abstract

International audience; BACKGROUND. Blood culture-negative endocarditis (BCNE) may account for up to 31% of all cases of endocarditis. METHODS. We used a prospective, multimodal strategy incorporating serological, molecular, and histopathological assays to investigate specimens from 819 patients suspected of having BCNE. RESULTS. Diagnosis of endocarditis was first ruled out for 60 patients. Among 759 patients with BCNE, a causative microorganism was identified in 62.7%, and a noninfective etiology in 2.5%. Blood was the most useful specimen, providing a diagnosis for 47.7% of patients by serological analysis (mainly Q fever and Bartonella infections). Broad-range polymerase chain reaction (PCR) of blood and Bartonella-specific Western blot methods diagnosed 7 additional cases. PCR of valvular biopsies identified 109 more etiologies, mostly streptococci, Tropheryma whipplei, Bartonella species, and fungi. Primer extension enrichment reaction and autoimmunohistochemistry identified a microorganism in 5 additional patients. No virus or Chlamydia species were detected. A noninfective cause of endocarditis, particularly neoplasic or autoimmune disease, was determined by histological analysis or by searching for antinuclear antibodies in 19 (2.5%) of the patients. Our diagnostic strategy proved useful and sensitive for BCNE workup. CONCLUSIONS. We highlight the major role of zoonotic agents and the underestimated role of noninfective diseases in BCNE. We propose serological analysis for Coxiella burnetii and Bartonella species, detection of antinuclear antibodies and rheumatoid factor as first-line tests, followed by specific PCR assays for T. whipplei, Bartonella species, and fungi in blood. Broad-spectrum 16S and 18S ribosomal RNA PCR may be performed on valvular biopsies, when available.

Published
2010
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