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https://www.readbyqxmd.com/read/27913544/treatment-of-rare-factor-deficiencies-in-2016
#1
Flora Peyvandi, Marzia Menegatti
Rare bleeding disorders (RBDs) are a heterogeneous group of coagulation disorders characterized by fibrinogen, prothrombin, factors V, VII, X, XI, or XIII (FV, FVII, FX, FXI, or FXIII, respectively), and the combined factor V + VIII and vitamin K-dependent proteins deficiencies, representing roughly 5% of all bleeding disorders. They are usually transmitted as autosomal, recessive disorders, and the prevalence of the severe forms could range from 1 case in 500 000 for FVII up to 1 in 2-3 million for FXIII in the general population...
December 2, 2016: Hematology—the Education Program of the American Society of Hematology
https://www.readbyqxmd.com/read/27913422/factor-xi-deficiency-enhances-the-pulmonary-allergic-response-to-house-dust-mite-in-mice-independent-of-factor-xii
#2
Ingrid Stroo, Jack Yang, Johannes Daan de Boer, Joris J T H Roelofs, Cornelis van 't Veer, Francis J Castellino, Sacha Zeerleder, Tom van der Poll
Asthma is associated with activation of coagulation in the airways. The coagulation system can be initiated via the extrinsic tissue factor dependent pathway or via the intrinsic pathway, in which the central player factor XI (FXI) can be either activated via active factor XII (FXIIa) or via thrombin. We aimed to determine the role of the intrinsic coagulation system, and its possible route of activation, in allergic lung inflammation induced by the clinically relevant human allergen house dust mite (HDM). Wild-type (WT), FXI knockout (KO) and FXII KO mice were subjected to repeated exposure to HDM via the airways, and inflammatory responses were compared...
December 2, 2016: American Journal of Physiology. Lung Cellular and Molecular Physiology
https://www.readbyqxmd.com/read/27862691/evaluation-of-the-use-of-global-haemostasis-assays-to-monitor-treatment-in-factor-xi-deficiency
#3
G N Pike, A M Cumming, J Thachil, C R M Hay, J Burthem, P H B Bolton-Maggs
INTRODUCTION: Previous guidelines recommend that FXI:C levels should be used to monitor FXI replacement in factor XI (FXI) deficiency. However, FXI:C levels do not correlate with bleeding tendency in this disorder and may not be the optimal test by which to monitor and determine further treatment in the postoperative period. AIM: To assess whether the thrombin generation assay (TGA) and rotational thromboelastometry can be used to monitor FXI replacement peri-operatively in FXI deficiency and to determine if changes in FXI:C levels correlate with changes in thrombin generation and clot formation parameters following treatment with solvent-detergent fresh frozen plasma (SD-FFP)...
November 8, 2016: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/27777753/coagulative-safety-of-epidural-catheters-after-major-upper-gastrointestinal-surgery-advanced-and-routine-coagulation-analysis-in-38-patients
#4
Owain Thomas, Hampus Rein, Karin Strandberg, Ulf Schött
BACKGROUND: The risk of spinal haematoma in patients receiving epidural catheters is estimated using routine coagulation tests, but guidelines are inconsistent in their recommendations on what to do when results indicate slight hypocoagulation. Postoperative patients are prone to thrombosis, and thromboelastometry has previously shown hypercoagulation in this setting. We aimed to better understand perioperative haemostasis by comparing results from routine and advanced tests, hypothesizing that patients undergoing major upper gastrointestinal surgery would be deficient in vitamin K-dependent coagulation factors because of malnutrition, or hypocoagulative because of accumulation of low molecular weight heparin (LMWH)...
2016: Perioperative Medicine
https://www.readbyqxmd.com/read/27723456/molecular-genetic-analysis-of-the-f11-gene-in-14-turkish-patients-with-factor-xi-deficiency-identification-of-novel-and-recurrent-mutations-and-their-inheritance-within-families
#5
Seyma Colakoglu, Turan Bayhan, Betül Tavil, Ebru Yılmaz Keskin, Volkan Cakir, Fatma Gümrük, Mualla Çetin, Selin Aytaç, Ergul Berber
BACKGROUND: Factor XI (FXI) deficiency is an autosomal bleeding disease associated with genetic defects in the F11 gene which cause decreased FXI levels or impaired FXI function. An increasing number of mutations has been reported in the FXI mutation database, most of which affect the serine protease domain of the protein. FXI is a heterogeneous disorder associated with a variable bleeding tendency and a variety of causative F11 gene mutations. The molecular basis of FXI deficiency in 14 patients from ten unrelated families in Turkey was analysed to establish genotype-phenotype correlations and inheritance of the mutations in the patients' families...
October 4, 2016: Blood Transfusion, Trasfusione del Sangue
https://www.readbyqxmd.com/read/27699729/the-management-of-factor-xi-deficiency-in-pregnancy
#6
Joanna Davies, Rezan Kadir
Management of factor XI (FXI) deficiency in pregnancy is complicated by lack of correlation between FXI level and bleeding risk. Clinicians should be vigilant about the potential for prolonged or excessive bleeding following miscarriage or termination of pregnancy, or postpartum hemorrhage (PPH). A multidisciplinary approach along with an individual care plan is recommended to prevent bleeding complications. Assessment of bleeding history, FXI level, and global tests of hemostasis can aid management decisions regarding hemostatic prophylaxis...
October 2016: Seminars in Thrombosis and Hemostasis
https://www.readbyqxmd.com/read/27559095/factor-xia-specific-igg-and-a-reversal-agent-to-probe-factor-xi-function-in-thrombosis-and-hemostasis
#7
Tovo David, Yun Cheol Kim, Lauren K Ely, Isaac Rondon, Huilan Gao, Peter O'Brien, Michael W Bolt, Anthony J Coyle, Jorge L Garcia, Eric A Flounders, Thomas Mikita, Shaun R Coughlin
Thrombosis is a major cause of morbidity and mortality. Current antithrombotic drugs are not ideal in that they must balance prevention of thrombosis against bleeding risk. Inhibition of coagulation factor XI (FXI) may offer an improvement over existing antithrombotic strategies by preventing some forms of thrombosis with lower bleeding risk. To permit exploration of this hypothesis in humans, we generated and characterized a series of human immunoglobulin Gs (IgGs) that blocked FXIa active-site function but did not bind FXI zymogen or other coagulation proteases...
August 24, 2016: Science Translational Medicine
https://www.readbyqxmd.com/read/27405678/rare-coagulation-disorders-fibrinogen-factor-vii-and-factor-xiii
#8
P de Moerloose, J-F Schved, D Nugent
Rare coagulation disorders (RCDs) include the inherited deficiencies of fibrinogen, factor (F) II, FV, combined FV and VIII, FVII, FX, combined FVII and X, FXI, FXIII and combined congenital deficiency of vitamin K-dependent factors (VKCFDs). Despite their rarity, a deep comprehension of all these disorders is essential to really understand haemostasis. Indeed, even if they share some common features each RCD has some particularity which makes it unique. In this review, we focus on three disorders: fibrinogen, FVII and FXIII...
July 2016: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/27385629/thrombotic-events-in-asymptomatic-fxii-deficiency-versus-symptomatic-fxi-deficiency-surprising-observations
#9
A Girolami, E Cosi, C Santarossa, S Ferrari, A M Lombardi
OBJECTIVE: To evaluate the impact of an asymptomatic congenital clotting defect (FXII deficiency) versus that of a similar but symptomatic defect (FXI deficiency) on protection from thrombosis. PATIENTS AND METHODS: All patients with FXII or FXI deficiency and thrombosis were gathered from a time-unlimited PubMed search that was carried out twice and from personal records. Combined defects were excluded. The defect had to be proven by the demonstration of a suited hereditary pattern and by a specific clotting assay...
2016: Acta Haematologica
https://www.readbyqxmd.com/read/27305946/ischemic-strokes-in-congenital-bleeding-disorders-comparison-with-myocardial-infarction-and-other-acute-coronary-syndromes
#10
Antonio Girolami, Silvia Ferrari, Elisabetta Cosi, Edoardo Peroni, Bruno Girolami
OBJECTIVE: to investigate the occurrence of ischemic stroke in patients with congenital bleeding disorders. PATIENTS AND METHODS: patients with congenital bleeding disorders who presented an objectively proven ischemic stroke were obtained by means of a time unlimited Pubmed search. Appropriate key words and Medical subject headings were used. Cross-checking of the references was also carried out. RESULTS: There were four cases of Fibrinogen defects or Factor VII deficiency; seven patients had Hemophilia (6 hemophilia A and 1 hemophilia B); eight cases of FXI deficiency and six patients with von Willebrand Disease...
June 15, 2016: Cardiovascular & Hematological Disorders Drug Targets
https://www.readbyqxmd.com/read/27302213/caesarean-surgery-or-vaginal-delivery-in-a-pregnant-woman-with-homozygous-fxi-deficiency-and-fxi-level-1-this-is-the-question
#11
Giovanni Barillari, Fabio Springolo, Samantha Pasca, Anna Del Fabro, Diego Marchesoni
No abstract text is available yet for this article.
August 2016: Minerva Ginecologica
https://www.readbyqxmd.com/read/27279430/is-resistance-futile-the-role-of-activated-thrombin-activatable-fibrinolysis-inhibitor-resistance-in-bleeding-in-factor-xi-deficiency
#12
M B Boffa
No abstract text is available yet for this article.
August 2016: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/27216469/why-factor-xi-deficiency-is-a-clinical-concern
#13
Allison P Wheeler, David Gailani
INTRODUCTION: Inherited fXI deficiency has been an enigma since its discovery in 1953. The variable and relatively mild symptoms in patients with even the most severe form of the disorder seem out of step with the marked abnormalities in standard clotting assays. Indeed, the contribution of factor XI to hemostasis in an individual is not adequately assessed by techniques available in modern clinical laboratories. AREAS COVERED: We discuss clinical studies, genetic/genomic analyses, and advances in laboratory medicine that are reshaping our views on the role of factor XI in pathologic coagulation...
July 2016: Expert Review of Hematology
https://www.readbyqxmd.com/read/27214821/hypoglycosylation-is-a-common-finding-in-antithrombin-deficiency-in-the-absence-of-a-serpinc1-gene-defect
#14
M E de la Morena-Barrio, I Martínez-Martínez, C de Cos, E Wypasek, V Roldán, A Undas, M van Scherpenzeel, D J Lefeber, M Toderici, T Sevivas, F España, J Jaeken, J Corral, V Vicente
UNLABELLED: Essentials We investigated the molecular base of antithrombin deficiency in cases without SERPINC1 defects. 27% of cases presented hypoglycosylation, transient in 62% and not restricted to antithrombin. Variations in genes involved in N-glycosylation underline this phenotype. These results support a new form of thrombophilia. Click here to listen to Dr Huntington's perspective on thrombin inhibition by the serpins SUMMARY: Background Since the discovery of antithrombin deficiency, 50 years ago, few new thrombophilic defects have been identified, all with weaker risk of thrombosis than antithrombin deficiency...
August 2016: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/27207433/the-hemostatic-role-of-factor-xi
#15
Cristina Puy, Rachel A Rigg, Owen J T McCarty
Coagulation factor (F)XI has been described as a component of the early phase of the contact pathway of blood coagulation, acting downstream of factor XII. However, patients deficient in upstream members of the contact pathway, including FXII and prekallikrein, do not exhibit bleeding complications, while FXI-deficient patients sometimes experience mild bleeding, suggesting FXI plays a role in hemostasis independent of the contact pathway. Further complicating the picture, bleeding risk in FXI-deficient patients is difficult to predict because bleeding symptoms have not been found to correlate with FXI antigen levels or activity...
May 2016: Thrombosis Research
https://www.readbyqxmd.com/read/27185477/in-vitro-sensitivity-of-different-activated-partial-thromboplastin-time-reagents-to-mild-clotting-factor-deficiencies
#16
P Toulon, Y Eloit, M Smahi, C Sigaud, D Jambou, F Fischer, A Appert-Flory
INTRODUCTION: Activated partial thromboplastin time (aPTT) is a routine clotting assay that is widely used to globally screen for coagulation abnormalities. It is commonly admitted that a prolonged test result, may trigger the need for specific assays to be performed, particularly factor measurement. However, the sensitivity of aPTT reagents to deficiencies of clotting factors varies. METHODS: We evaluated, according to the recommendation of the CLSI H47-A2 guideline, the responsiveness to single factor levels of five aPTT reagents by using factor-deficient plasmas spiked with a calibration plasma to produce individual factor activities ranging from <1 to ~100 Unit (U)/dL...
August 2016: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/27112703/diagnostic-difficulties-of-factor-xi-deficiencies-interferences-assay-or-real-deficit
#17
Alexandre Gaymard, Christophe Nougier
Madam P, 77 years old, consulted in the hemostasis department after a coagulation anomaly was discovered during her preoperative test for a total hip prosthesis. After confirmation of a persistent and increased aPTT, additional tests were performed and showed the presence of antiphospholipid antibodies. Factor VIII level could be corrected after the plasma dilution to 1/40(th). But successive dilutions were not enough to obtain a correct factor IX (FIX) and factor XI (FXI) level. FIX level was obtained by chromogenic method in order to avoid the interferences caused by the antibodies...
June 1, 2016: Annales de Biologie Clinique
https://www.readbyqxmd.com/read/27094709/reduced-fibrinolytic-resistance-in-patients-with-factor-xi-deficiency-evidence-of-a-thrombin-independent-impairment-of-the-thrombin-activatable-fibrinolysis-inhibitor-pathway
#18
M Colucci, F Incampo, A Cannavò, M Menegatti, S M Siboni, F Zaccaria, N Semeraro, F Peyvandi
UNLABELLED: Essentials Plasma of factor XI-deficient patients (FXI-dp) displays enhanced fibrinolysis. We investigated the role of thrombin activatable fibrinolysis inhibitor (TAFI) in 18 FXI-dp. FXI-dp generated less activated TAFI (TAFIa) on clotting challenge and were resistant to TAFIa. TAFI activation and TAFIa resistance correlated with bleeding score and bleeding phenotype. SUMMARY: Background Factor XI (FXI) deficiency, a rare disorder with unpredictable bleeding, has been associated with reduced fibrinolytic resistance as a result of abnormal fibrin density...
August 2016: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/27067486/clinical-manifestations-and-mutation-spectrum-of-57-subjects-with-congenital-factor-xi-deficiency-in-china
#19
Yanyan Shao, Yanan Cao, Yeling Lu, Jing Dai, Qiulan Ding, Xuefeng Wang, Xiaodong Xi, Hongli Wang
Congenital factor XI (FXI) deficiency is a rare bleeding disorder with unpredictable bleeding tendency. Few studies in a large cohort have been reported regarding associations between FXI activity (FXI:C) or genotypes and bleeding symptoms currently. This study characterized clinical manifestations and mutation spectrum of 57 subjects with FXI deficiency in China. Clinical data were collected and mutations were identified by direct sequencing and determined by mRNA analysis. The result revealed bleeding symptoms were only found in 12 patients (12/57, 21...
May 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/27046148/factor-xi-deficiency-alters-the-cytokine-response-and-activation-of-contact-proteases-during-polymicrobial-sepsis-in-mice
#20
Charles E Bane, Ivan Ivanov, Anton Matafonov, Kelli L Boyd, Qiufang Cheng, Edward R Sherwood, Erik I Tucker, Stephen T Smiley, Owen J T McCarty, Andras Gruber, David Gailani
Sepsis, a systemic inflammatory response to infection, is often accompanied by abnormalities of blood coagulation. Prior work with a mouse model of sepsis induced by cecal ligation and puncture (CLP) suggested that the protease factor XIa contributed to disseminated intravascular coagulation (DIC) and to the cytokine response during sepsis. We investigated the importance of factor XI to cytokine and coagulation responses during the first 24 hours after CLP. Compared to wild type littermates, factor XI-deficient (FXI-/-) mice had a survival advantage after CLP, with smaller increases in plasma levels of TNF-α and IL-10 and delayed IL-1β and IL-6 responses...
2016: PloS One
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