Diagnosis of inherited platelet disorders on a blood smear: a tool to facilitate worldwide diagnosis of platelet disorders.
Andreas Greinacher,Alessandro Pecci,Shinji Kunishima,Karina Althaus,Paquita Nurden,Carlo L. Balduini,Tamam Bakchoul +6 more
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TLDR
A method to diagnose several HPDs using standard blood smears requiring < 100 µL blood is provided, and the underlying cause of HPD was characterized in ~25–30% of referred individuals.About:
This article is published in Journal of Thrombosis and Haemostasis.The article was published on 2017-07-01 and is currently open access. It has received 61 citations till now. The article focuses on the topics: Platelet disorder & Gray platelet syndrome.read more
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MYH9: Structure, functions and role of non-muscle myosin IIA in human disease.
TL;DR: This review discusses the structure of the MYH9 gene and its protein, as well as the regulation and physiologic functions of non-muscle myosin IIA with particular reference to embryonic development, and focuses on current knowledge about the role of MyH9 variants in human disease.
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Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia
Caterina Marconi,Christian A. Di Buduo,Kellie LeVine,Serena Barozzi,Michela Faleschini,Valeria Bozzi,Flavia Palombo,Spencer U. McKinstry,Giuseppe Lassandro,Paola Giordano,Patrizia Noris,Carlo L. Balduini,Anna Savoia,Alessandra Balduini,Alessandra Balduini,Tommaso Pippucci,Marco Seri,Nicholas Katsanis,Alessandro Pecci +18 more
TL;DR: Exome sequencing of 2 siblings with autosomal-recessive thrombocytopenia identified biallelic loss-of-function variants in PTPRJ, which are identified as a new form of IT and highlight a hitherto unknown fundamental role forPTPRJ in platelet biogenesis.
Journal ArticleDOI
Inherited thrombocytopenias: history, advances and perspectives
Alan T. Nurden,Paquita Nurden +1 more
TL;DR: It quickly became apparent that many inherited thrombocytopenias are syndromic while others are linked to an increased risk of hematologic malignancies and next-generation sequencing was used in first-step screening and to define bleeding risk and treatment better.
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Toward the Relevance of Platelet Subpopulations for Transfusion Medicine.
TL;DR: The concept of platelet size being associated with platelet function may be attractive for transfusion medicine as it holds the perspective to separate platelet subpopulations with specific functional capabilities.
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Inherited thrombocytopenias: an updated guide for clinicians.
TL;DR: This review recapitulate the clinical features of ITs with emphasis on the forms predisposing to additional diseases, including the management of hemostatic challenges, the treatment of severe forms, and the approach to the manifestations that add to thrombocytopenia.
References
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Lentiviral Hematopoietic Stem Cell Gene Therapy in Patients with Wiskott-Aldrich Syndrome
Alessandro Aiuti,Luca Biasco,Samantha Scaramuzza,Francesca Ferrua,Maria Pia Cicalese,Cristina Baricordi,Francesca Dionisio,Andrea Calabria,Stefania Giannelli,Maria Carmina Castiello,Marita Bosticardo,Costanza Evangelio,Andrea Assanelli,Miriam Casiraghi,Sara Di Nunzio,Luciano Callegaro,Claudia Benati,Paolo Rizzardi,Danilo Pellin,Clelia Di Serio,Manfred G. Schmidt,Christof von Kalle,Jason P. Gardner,Nalini Mehta,Victor Neduva,David J. Dow,Anne Galy,Roberto Miniero,Andrea Finocchi,Ayse Metin,Pinaki P. Banerjee,Jordan S. Orange,Stefania Galimberti,Maria Grazia Valsecchi,Alessandra Biffi,Eugenio Montini,Anna Villa,Fabio Ciceri,Maria Grazia Roncarolo,Luigi Naldini +39 more
TL;DR: A clinical protocol based on lentiviral vector (LV) gene transfer into autologous hematopoietic stem/progenitor cells (HSCs) resulted in robust, stable, and long-term engraftment of gene-corrected HSCs in the patients’ bone marrow, and the findings support the use of LV gene therapy to treat patients with WAS.
Journal ArticleDOI
The Human Gene Mutation Database: 2008 update
Peter D. Stenson,Matthew Mort,Edward V. Ball,Katy Howells,Andrew David Phillips,Nicholas Stuart Tudor Thomas,David Neil Cooper +6 more
TL;DR: Although originally established for the scientific study of mutational mechanisms in human genes, HGMD has since acquired a much broader utility for researchers, physicians, clinicians and genetic counselors as well as for companies specializing in biopharmaceuticals, bioinformatics and personalized genomics.
Journal ArticleDOI
Platelet Transfusion: A Clinical Practice Guideline From the AABB
Richard M. Kaufman,Benjamin Djulbegovic,Terry Gernsheimer,Steven Kleinman,Alan Tinmouth,Kelley E. Capocelli,Mark Cipolle,Claudia S. Cohn,Mark K. Fung,Brenda J. Grossman,Paul D. Mintz,Barbara A. O’Malley,Deborah A. Sesok-Pizzini,Aryeh Shander,Gary Stack,Kathryn E. Webert,Robert Weinstein,Babu G. Welch,Glenn J.R. Whitman,Edward C.C. Wong,Aaron A.R. Tobian +20 more
TL;DR: These guidelines were designed to provide pragmatic recommendations, based on the best available published evidence, about when platelet transfusion may be appropriate in adult patients, and provide advice for adult patients who are candidates for platelets transfusion.
Journal ArticleDOI
Recommendations for the standardization of light transmission aggregometry : a consensus of the working party from the platelet physiology subcommittee of SSC/ISTH
Marco Cattaneo,Chiara Cerletti,Paul Harrison,Catherine P.M. Hayward,Dermot Kenny,Diane J. Nugent,Paquita Nurden,A. K. Rao,Alvin H. Schmaier,Steve P. Watson,Federico Lussana,Mariateresa Pugliano,Alan D. Michelson +12 more
TL;DR: The Platelet Physiology Subcommittee of the Scientific and Standardization Committee (SSC) of the International Society on Thrombosis and Haemostasis formed a working party of experts with the aim of producing a series of consensus recommendations for standardizing LTA, which formed the basis of a consensus document, which is the subject of the present report.
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