Role of multimeric analysis of von Willebrand factor (VWF) in von Willebrand disease (VWD) diagnosis: Lessons from the PCM-EVW-ES Spanish project
| العنوان: | Role of multimeric analysis of von Willebrand factor (VWF) in von Willebrand disease (VWD) diagnosis: Lessons from the PCM-EVW-ES Spanish project |
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| المؤلفون: | Pérez-Rodríguez, Almudena, Batlle, Javier, Corrales Insa, Irene, Borràs, Nina, Rodríguez-Trillo, Ángela, Lourés, Esther, Cid, Ana Rosa, Bonanad, Santiago, Cabrera, Noelia, Moret, Andrés, Parra, Rafael, Mingot-Castellano, María Eva, Navarro, Nira, Altisent, Carmen, Pérez-Montes, Rocío, Marcellini, Shally, Moreto, Ana, Herrero, Sonia, Soto, Inmaculada, Fernández Mosteirín, Nuria, Jiménez-Yuste, Víctor, Alonso, Nieves, de Andrés Jacob, Aurora, Fontanes, Emilia, Campos, Rosa, Paloma, María José, Bermejo, Nuria, Berrueco, Rubén, Mateo, José, Arribalzaga, Karmele, Marco, Pascual, Palomo Bravo, Ángeles, Castro Quismondo, Nerea, Iñigo, Belén, Nieto Hernández, Maria del Mar, Vidal, Rosa, Martínez, María Paz, Aguinaco, Reyes, Tenorio, Maria, Ferreiro, María, García-Frade, Javier, Rodríguez-Huerta, Ana María, Cuesta, Jorge, Rodríguez-González, Ramón, García-Candel, Faustino, Dobón, Manuela, Aguilar, Carlos, Batlle, Fernando, Vidal, Francisco, López-Fernández, María Fernanda, Universitat Autònoma de Barcelona |
| المصدر: | PLoS One r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau instname r-FISABIO: Repositorio Institucional de Producción Científica Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO) r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante r-FISABIO. Repositorio Institucional de Producción Científica Plos One r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid Consejería de Sanidad de la Comunidad de Madrid r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu Fundació Sant Joan de Déu PLoS ONE Dipòsit Digital de Documents de la UAB Universitat Autònoma de Barcelona PLoS ONE, Vol 13, Iss 6, p e0197876 (2018) |
| بيانات النشر: | PUBLIC LIBRARY SCIENCE, 2018. |
| سنة النشر: | 2018 |
| مصطلحات موضوعية: | Male, Heredity, Gene Identification and Analysis, lcsh:Medicine, 030204 cardiovascular system & hematology, Biochemistry, Geographical locations, 0302 clinical medicine, hemic and lymphatic diseases, Genotype, Medicine and Health Sciences, Medicine, lcsh:Science, Child, Aged, 80 and over, Multidisciplinary, biology, High-Throughput Nucleotide Sequencing, Middle Aged, Europe, Phenotypes, von Willebrand Diseases, Phenotype, Child, Preschool, Female, Research Article, circulatory and respiratory physiology, Adult, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, 03 medical and health sciences, Young Adult, Von Willebrand factor, Diagnostic Medicine, von Willebrand Factor, Von Willebrand disease, Genetics, Humans, Mutation detection, European Union, Mutation Detection, Aged, business.industry, lcsh:R, Structural integrity, Biology and Life Sciences, Proteins, Human Genetics, medicine.disease, Spain, Immunology, biology.protein, lcsh:Q, People and places, business, Collagens, 030215 immunology |
| الوصف: | The multimeric analysis (MA) of plasma von Willebrand factor (VWF) evaluates structural integrity and helps in the diagnosis of von Willebrand disease (VWD). This assay is a matter of controversy, being considered by some investigators cumbersome and only slightly informative. The centralised study 'Molecular and Clinical Profile of von Willebrand Disease in Spain (PCM-EVW-ES)' has been carried out by including the phenotypic assessment and the genetic analysis by next generation sequencing (NGS) of the VWF gene (VWF). The aim of the present study was to evaluate the role of MA to the diagnosis of these patients and their potential discrepancies. Two hundred and seventy out of 480 patients centrally diagnosed with VWD had normal multimers, 168 had abnormal multimers and 42 a total absence of multimers. VWF MA was of great significance in the diagnosis of 83 patients (17.3%), it was also of help in the diagnosis achieved in 365 additional patients (76%) and was not informative in 32 cases (6.7%). With regard to discrepancies, 110 out of 480 (23%) patients centrally diagnosed with VWD presented some kind of discordance between VWF:RCo/VWF:Ag and/or VWF:CB/VWF:Ag ratios, multimeric study and/or genetic results. The VWF MA was key in the presence of novel mutations as well as in cases with phenotypic discrepancies. A comparison between the contribution of MA and VWF:CB showed a clearly higher contribution of the former in the diagnostic process. These data seem to reinforce the relevance of the VWF MA in VWD diagnosis, despite all its limitations. |
| وصف الملف: | application/pdf |
| تدمد: | 1932-6203 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1793c48a7810d65f40ef4eac8ce4b2aTest https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=11788Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....a1793c48a7810d65f40ef4eac8ce4b2a |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 19326203 |
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