The rare coagulation disorders – review with guidelines for management from the United Kingdom Haemophilia Centre Doctors' Organisation
Paula H. B. Bolton-Maggs,D. J. Perry,Elizabeth Chalmers,L. A. Parapia,Jonathan T. Wilde,Michael Williams,Peter William Collins,Steve Kitchen,Gerry Dolan,Andrew D Mumford +9 more
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TLDR
This review summarizes the current literature for disorders of fibrinogen, and deficiencies of prothrombin, factor V, FV’+ VIII, FVII, FX, the combined vitamin K‐dependent factors, FXI and FXIII with a section on Ehlers‐Danlos Syndrome.Abstract:
The rare coagulation disorders are heritable abnormalities of haemostasis that may present significant difficulties in diagnosis and management. This review summarizes the current literature for disorders of fibrinogen, and deficiencies of prothrombin, factor V, FV + VIII, FVII, FX, the combined vitamin K-dependent factors, FXI and FXIII. Based on both collective clinical experience and the literature, guidelines for management of bleeding complications are suggested with specific advice for surgery, spontaneous bleeding, management of pregnancy and the neonate. We have chosen to include a section on Ehlers-Danlos Syndrome because haematologists may be consulted about bleeding manifestations in such patients.read more
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Management of severe perioperative bleeding Guidelines from the European Society of Anaesthesiology
Sibylle A. Kozek-Langenecker,Arash Afshari,Pierre Albaladejo,Cesar Aldecoa Alvarez Santullano,Edoardo De Robertis,Daniela Filipescu,Dietmar Fries,Thorsten Haas,Georgina Imberger,Matthias Jacob,Marcus D. Lancé,Juan V. Llau,Susan Mallett,Jens Meier,Niels Rahe-Meyer,Charles Marc Samama,Andrew Smith,Cristina Solomon,Philippe Van der Linden,Anne Wikkelsø,Patrick Wouters,Piet Wyffels +21 more
TL;DR: These guidelines are intended to provide an overview of current knowledge on the subject with an assessment of the quality of the evidence in order to allow anaesthetists throughout Europe to integrate this knowledge into daily patient care wherever possible.
Journal ArticleDOI
Management of severe perioperative bleeding: guidelines from the European Society of Anaesthesiology: First update 2016.
Sibylle A. Kozek-Langenecker,Aamer B Ahmed,Arash Afshari,Pierre Albaladejo,Cesar Aldecoa,Guidrius Barauskas,Edoardo De Robertis,David Faraoni,Daniela Filipescu,Dietmar Fries,Thorsten Haas,Matthias Jacob,Marcus D. Lancé,Juan V.L. Pitarch,Susan Mallett,Jens Meier,Zsolt Molnár,Niels Rahe-Meyer,Charles Marc Samama,Jakob Stensballe,Philippe Van der Linden,Anne Wikkelsø,Patrick Wouters,Piet Wyffels,Kai Zacharowski +24 more
TL;DR: This update includes revisions to existing recommendations with respect to the wording, or changes in the grade of recommendation, and also the addition of new recommendations.
Journal ArticleDOI
Coagulation factor activity and clinical bleeding severity in rare bleeding disorders: results from the European Network of Rare Bleeding Disorders.
Flora Peyvandi,Roberta Palla,Marzia Menegatti,Simona Maria Siboni,Susan Halimeh,B. Faeser,Helen Pergantou,H. Platokouki,Paul Giangrande,Kathelijne Peerlinck,Tiraje Celkan,Nihal Özdemir,Christoph Bidlingmaier,J. Ingerslev,Muriel Giansily-Blaizot,J.-F. Schved,R. Gilmore,Alain Gadisseur,Majda Benedik-Dolničar,Lidija Kitanovski,Danijela Mikovic,Khaled M. Musallam,F. R. Rosendaal +22 more
TL;DR: The aim of the EN‐RBD is to bridge the gap between knowledge and practise in the care of patients with RBDs and to provide real-time information about bleeding disorders to improve the quality of life for patients.
Journal ArticleDOI
Guidelines for the laboratory investigation of heritable disorders of platelet function.
Paul Harrison,Ian J. Mackie,Andrew D Mumford,Carol Briggs,Ri Liesner,Mark Winter,Samuel J. Machin +6 more
TL;DR: The objective of this guideline is to provide healthcare professionals with clear guidance on platelet function testing in patients with suspected bleeding disorders and in all cases individual patient circumstances may dictate an alternative approach.
References
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Ehlers‐Danlos syndromes: Revised nosology, Villefranche, 1997
TL;DR: This work proposes a revision of the classification of the Ehlers-Danlos syndromes based primarily on the cause of each type based on major and minor diagnostic criteria defined for each type and complemented whenever possible with laboratory findings.
Journal ArticleDOI
Mutations in VKORC1 cause warfarin resistance and multiple coagulation factor deficiency type 2
Simone Rost,Andreas Fregin,Vytautas Ivaskevicius,Ernst Conzelmann,Konstanze Hörtnagel,Hans-Joachim Pelz,Knut Tore Lappegård,Erhard Seifried,Inge Scharrer,Edward G. D. Tuddenham,Clemens R. Müller,Tim M. Strom,Johannes Oldenburg,Johannes Oldenburg +13 more
TL;DR: The gene vitamin K epoxide reductase complex subunit 1 (VKORC1), which encodes a small transmembrane protein of the endoplasmic reticulum, is identified, by using linkage information from three species, to be involved in two heritable human diseases.
Journal ArticleDOI
Factor XI activation in a revised model of blood coagulation.
David Gailani,George J. Broze +1 more
TL;DR: A revised model of coagulation is proposed in which factor XI is activated by thrombin, and part of this effect is due to autoactivation of factor XI by activated factor XI.
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Glycosylated matrix protein
TL;DR: This chapter focuses on cartilage and bone, covering many aspects of connective tissues, and gives special focus to the noncollagenous proteins in their matrices.
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Mutations in the ER–Golgi Intermediate Compartment Protein ERGIC-53 Cause Combined Deficiency of Coagulation Factors V and VIII
William C. Nichols,Uri Seligsohn,Ariella Zivelin,Valeri H. Terry,Colette E. Hertel,Matthew A. Wheatley,Micheline Moussalli,Hans Peter Hauri,Nicola Ciavarella,Randal J. Kaufman,David Ginsburg +10 more
TL;DR: Findings suggest that ERGIC-53 may function as a molecular chaperone for the transport from ER to Golgi of a specific subset of secreted proteins, including coagulation factors V and VIII.
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