Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome

Autor: Clarisse Billon, Salma Adham, Natalia Hernandez Poblete, Anne Legrand, Michael Frank, Laurent Chiche, Stephane Zuily, Karelle Benistan, Laurent Savale, Khaoula Zaafrane-Khachnaoui, Anne-Claire Brehin, Laurence Bal, Tiffany Busa, Mélanie Fradin, Chloé Quelin, Bertrand Chesneau, Denis Wahl, Patricia Fergelot, Cyril Goizet, Tristan Mirault, Xavier Jeunemaitre, Juliette Albuisson, Bordeaux-cohort collaborators

Publikováno v: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-13 (2021)

Abstract Background FLNA Loss-of-Function (LoF) causes periventricular nodular heterotopia type 1 (PVNH1), an acknowledged cause of seizures of various types. Neurological symptoms are inconstant, and cardiovascular (CV) defects or connective tissue

Externí odkaz: https://doaj.org/article/d0fc9cf40c2a4de0a8134ace8ab5266e

Multiple Arterial Thrombosis in a 78-Year-Old Patient: Catastrophic Thrombotic Syndrome in COVID-19Novel Teaching Point

Autor: David Kenizou, MD, Clemence Perrin, MD, Ines Harzallah, MD, Didier Bresson, MD, Patrick Allimant, MD, Mihaela Calcaianu, MD, Bree Lawson, MD, Béatrice Morisset, MD, Stephane Zuily, MD, PhD, Laurent Jacquemin, MD, Marine Kinnel, MD, Nicolas Girerd, MD, PhD

Publikováno v: CJC Open, Vol 3, Iss 2, Pp 198-200 (2021)

We describe a patient with coronavirus disease 2019 (COVID-19) and multiple concomitant thromboses occurring on the 9th day of hospital stay. Thromboses were found in distinct zones of the aorta, as well as in the renal, humeral, and pulmonary arteri

Externí odkaz: https://doaj.org/article/4ea5a795541a4c3c8e33c87173e97454

Variability in exposure of epitope G40-R43 of domain i in commercial anti-beta2-glycoprotein I IgG ELISAs.

Autor: Leonie Pelkmans, Hilde Kelchtermans, Philip G de Groot, Stephane Zuily, Veronique Regnault, Denis Wahl, Vittorio Pengo, Bas de Laat

Publikováno v: PLoS ONE, Vol 8, Iss 8, p e71402 (2013)

BACKGROUND: A major problem for diagnosing the antiphospholipid syndrome (APS) is the high variability between commercial anti-β2glycoprotein I (β2GPI) assays. Predominantly antibodies reactive against cryptic epitope Glycine40-Arginine43 (G40-R43)

Externí odkaz: https://doaj.org/article/b8473912c2ed439a9e6c0ca260031b3b

Associations Among Antiphospholipid Antibody Types, Isotypes, and Titers: An AntiPhospholipid Syndrome Alliance for Clinical Trials and InternatiOnal Networking (APS ACTION) Study

Autor: Elena Gkrouzman, Rohan Willis, Danieli Andrade, Maria G. Tektonidou, Vittorio Pengo, Guillermo Ruiz-Irastorza, H. Michael Belmont, Paul R. Fortin, Maria Gerosa, Flavio Signorelli, Tatsuya Atsumi, D. Ware Branch, Cecilia Nalli, Esther Rodriguez-Almaraz, Michelle A. Petri, Ricard Cervera, Jason S. Knight, Maria Efthymiou, Hannah Cohen, Maria Laura Bertolaccini, Doruk Erkan, Robert Roubey, Guillermo Pons-Estel, Bill Giannakopoulos, Steve Krilis, Guilherme de Jesus, Roger Levy, Gustavo Balbi, Ann E. Clarke, Leslie Skeith, Lanlan Ji, Zhouli Zhang, Chengde Yang, Hui Shi, Stephane Zuily, Denis Wahl, Laura Andreoli, Angela Tincani, Cecilia B. Chighizola, Pierluigi Meroni, Chunyan Cheng, Giulia Pazzola, Savino Sciascia, Silvia Foddai, Massimo Radin, Stacy Davis, Olga Amengual, Imad Uthman, Maarten Limper, Philip de Groot, Guillermo Ruiz—Irastorza, Amaia Ugarte, Ignasi Rodriguez-Pinto, Jose Pardos-Gea, Esther Rodriguez Almaraz, Maria Jose Cuadrado, Maria Angeles Aguirre Zamorano, Chary Lopez-Pedrera, Bahar Artim-Esen, Murat Inanc, Munther Khamashta, Ian Mackie, Giovanni Sanna, Jason Knight, Yu Zuo, Michelle Petri, Rebecca K. Leaf, Thomas Ortel, Emilio Gonzalez, Nina Kello, Michael Belmont, Steven Levine, Jacob Rand, Medha Barbhaiya, Jane Salmon, Michael Lockshin, Ali A. Duarte Garcia

Publikováno v: Laboratory Investigation. 103:100147

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::dcb4ff340725f5eff8ed39489f36dc87
https://doi.org/10.1016/j.labinv.2023.100147

COVID-19 and antiphospholipid antibodies: A position statement and management guidance from AntiPhospholipid Syndrome Alliance for Clinical Trials and InternatiOnal Networking (APS ACTION)

Autor: Xin, Wang, Elena, Gkrouzman, Danieli Castro Oliveira, Andrade, Laura, Andreoli, Medha, Barbhaiya, H Michael, Belmont, David Ware, Branch, Guilherme R, de Jesús, Maria, Efthymiou, Roberto, Ríos-Garcés, Maria, Gerosa, Georges, El Hasbani, Jason, Knight, Pier Luigi, Meroni, Giulia, Pazzola, Michelle, Petri, Jacob, Rand, Jane, Salmon, Maria, Tektonidou, Angela, Tincani, Imad W, Uthman, Stephane, Zuily, Yu, Zuo, Michael, Lockshin, Hannah, Cohen, Doruk, Erkan

Publikováno v: Lupus. 30(14)

Coronavirus disease 2019 (COVID-19) is associated with a high rate of thrombosis. Prolonged activated partial thromboplastin times (aPTT) and antiphospholipid antibodies (aPL) are reported in COVID-19 patients. The majority of publications have not r

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7efa15defb2eae6b0dcaa9c85c239458
https://pubmed.ncbi.nlm.nih.gov/34915764