Emergency management of patients with Glanzmann thrombasthenia: consensus recommendations from the French reference center for inherited platelet disorders

Autor: Mathieu Fiore, Janine-Sophie Giraudet, Marie-Christine Alessi, Céline Falaise, Dominique Desprez, Roseline d’Oiron, Sophie Voisin, Marie-Françoise Hurtaud, Hélène Boutroux, Paul Saultier, Cécile Lavenu-Bombled, Gilles Bagou, Xavier Dubucs, Anthony Chauvin, Christophe Leroy, Francine Meckert, François Kerbaul, Nicolas Giraud, Ambra Pühler, Ana Rath

Publikováno v: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-8 (2023)

Abstract Glanzmann thrombasthenia (GT) is a genetic bleeding disorder characterised by severely reduced/absent platelet aggregation in response to multiple physiological agonists. The severity of bleeding in GT varies markedly, as does the emergency

Externí odkaz: https://doaj.org/article/afdd1c0969c24287ad8dac6e3b9a780a

A mutation in the gene coding for the sialic acid transporter SLC35A1 is required for platelet life span but not proplatelet formation

Autor: Alexandre Kauskot, Tiffany Pascreau, Frédéric Adam, Arnaud Bruneel, Christelle Reperant, Marc-Damien Lourenco-Rodrigues, Jean-Philippe Rosa, Rachel Petermann, Hélène Maurey, Claire Auditeau, Dominique Lasne, Cécile V. Denis, Marijke Bryckaert, Pascale de Lonlay, Cécile Lavenu-Bombled, Judith Melki, Delphine Borgel

Publikováno v: Haematologica, Vol 103, Iss 12 (2018)

Externí odkaz: https://doaj.org/article/1449f4971f1041b4aeca66901242487a

Obstetrical complications in hereditary fibrinogen disorders: the Fibrinogest Study

Autor: Justine Hugon-Rodin, Camille Carrière, Ségolène Claeyssens, Nathalie Trillot, Nicolas Drillaud, Christine Biron-Andreani, Cécile Lavenu-Bombled, Anna Wieland, Claire Flaujac, Natalie Stieltjes, Aurélien Lebreton, Thomas Brungs, Andrea Hegglin, Mathieu Fiore, Céline Desconclois, Valérie Gay, Brigitte Tardy-Poncet, Philippe Beurrier, Virginie Barbay, Pierre Chamouni, Emmanuel De Maistre, Tomas Simurda, Alessandro Casini

BACKGROUND Women with hereditary fibrinogen disorders (HFDs) seem to be at increased risk of adverse obstetrical outcomes, but epidemiologic data are limited Patients/methods: We conducted a retrospective and prospective international study to determ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e0f4e913709c7a5ad5af681f0553bf4

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome

Autor: Suthesh Sivapalaratnam, Erica De Candia, Janine Collins, Anthony D. Whetton, Nihr BioResource, Rachel Reed, Wadie F. Bahou, Denis Seyres, Daniel Greene, Hanna Shalev, Anne M. Kelly, Sandra Le Quellec, Paolo Gresele, Thierry M Leblanc, Elizabeth Chalmers, Tadbir K. Bariana, Rémi Favier, John Pasi, Albert Sickmann, Kathleen Freson, Sri V V Deevi, Daniel P. Hart, Dave Lee, Ernest Turro, Rutendo Mapeta, Luigi Grassi, John K. Wu, Matthew C Sims, Sara Morais, Mattia Frontini, Barbara Zieger, Diane J. Nugent, Mallika Sekhar, Louisa Mayer, Loredana Bury, Man-Chiu Poon, Soo J. Park, William J. Astle, Frances Burden, Paquita Nurden, Jonathan Stephens, Cécile Lavenu-Bombled, Andreas Greinacher, Rachael Da Silva, Marie-Françoise Hurtaud, Jose A. Guerrero, Robert Campbell Tait, Sofia Papadia, Eva Leinoe, Antonio Rodriguez-Romera, Karyn Megy, Wendy N. Erber, Gian Marco Podda, Ron Kerr, Willem H. Ouwehand, Laxmikanth Kollipara, Marie-Christine Alessi, Keith Gomez, Harriet McKinney, Taco W. Kuijpers, Alan D. Michelson, Kate Downes, Samantha Farrow, Orna Steinberg-Shemer

Gray platelet syndrome (GPS) is a rare recessive disorder caused by variants in NBEAL2 and characterized by bleeding symptoms, the absence of platelet ɑ-granules, splenomegaly and bone marrow (BM) fibrosis. Due to its rarity, it has been difficult t

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a3fdca8a8631fc6967e91555bbfde14
https://doi.org/10.1101/2020.03.23.20041467

Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome

Autor: Tadbir K. Bariana, William J. Astle, Paquita Nurden, Jonathan Stephens, Sandra Le Quellec, Suthesh Sivapalaratnam, Andreas Greinacher, Jose A. Guerrero, Karyn Megy, Laxmikanth Kollipara, Hanna Shalev, Rachel Reed, Marie-Christine Alessi, Ron Kerr, Anthony D. Whetton, Matthew C Sims, Nihr BioResource, Man-Chiu Poon, Kathleen Freson, Samantha Farrow, Orna Steinberg-Shemer, Wendy N. Erber, Diane J. Nugent, Harriet McKinney, Cécile Lavenu-Bombled, Robert Campbell Tait, Mallika Sekhar, Rutendo Mapeta, Eva Leinoe, Anne M. Kelly, Louisa Mayer, Janine Collins, Mattia Frontini, Thierry M Leblanc, Elizabeth Chalmers, Albert Sickmann, Willem H. Ouwehand, Barbara Zieger, Taco W. Kuijpers, Antonio Rodriguez-Romera, Gian Marco Podda, Daniel P. Hart, Paolo Gresele, Daniel Greene, Keith Gomez, Wadie F. Bahou, Soo J. Park, Erica De Candia, Dave Lee, Luigi Grassi, Alan D. Michelson, Sara Morais, Denis Seyres, Kate Downes, John Pasi, Sri V V Deevi, John K. Wu, Loredana Bury, Frances Burden, Rachael Da Silva, Sofia Papadia, Marie-Françoise Hurtaud, Ernest Turro, Rémi Favier

Publikováno v: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Blood, 136(17), 1956-1967. American Society of Hematology
Blood
Blood, American Society of Hematology, 2020, 136 (17), pp.1956-1967. ⟨10.1182/blood.2019004776⟩
Blood, 2020, 136 (17), pp.1956-1967. ⟨10.1182/blood.2019004776⟩

Gray platelet syndrome (GPS) is a rare recessive disorder caused by biallelic variants in NBEAL2 and characterized by bleeding symptoms, the absence of platelet α-granules, splenomegaly, and bone marrow (BM) fibrosis. Due to the rarity of GPS, it ha

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e84218b5ae93cc596770a017817d7a1d