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https://www.readbyqxmd.com/read/29138690/factor-xi-gene-variants-in-factor-xi-deficient-patients-of-southern-italy-identification-of-a-novel-mutation-and-genotype-phenotype-relationship
#1
Giovanni L Tiscia, Giovanni Favuzzi, Maria R Lupone, Filomena Cappucci, Michele Schiavulli, Valentina Mirabelli, Giovanna D'Andrea, Elena Chinni, Nicola Giuliani, Rocco Caliandro, Elvira Grandone
Congenital Factor XI (FXI) deficiency shows a high variability in clinical phenotype. To date, many allele variants have been shown to cause this bleeding disorder. However, the genotype-phenotype relationship is difficult to establish. This report provides insights into this bleeding disorder. Sixteen unrelated Italian index cases with congenital FXI deficiency and their relatives were investigated. After the identification of the deficiency, we obtained DNA from each subject and analyzed the FXI gene using direct sequencing...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/29027258/acquired-factor-xi-deficiency-and-therapeutic-plasma-exchange
#2
Geoffrey D Wool, Angela Treml, Jonathan L Miller
Congenital factor XI (FXI) deficiency is associated with a variable bleeding phenotype. Recent reports have documented the use of therapeutic plasma exchange to rapidly and isovolumetrically increase FXI levels before invasive procedures in patients with congenital FXI deficiency. We report a case of acquired FXI deficiency in a pregnant woman with lupus. We proved that the inhibitor was an IgG, therefore potentially capable of crossing the placenta. While immune suppression eliminated detectable circulating inhibitor, the woman's FXI remained quite low...
October 13, 2017: Journal of Clinical Apheresis
https://www.readbyqxmd.com/read/28969316/perioperative-management-of-rare-coagulation-factor-deficiency-states-in-cardiac-surgery
#3
E R Strauss, M A Mazzeffi, B Williams, N S Key, K A Tanaka
Rare bleeding disorders (RBDs) include the hereditary deficiency of fibrinogen, factor (F)II, FV, FV + FVIII, FVII, FX, FXI or FXIII. RBDs do not confer a protective effect against atheromatous plaque formation, and thus the need for cardiovascular (CV) surgery in RBD patients is expected to increase with improved healthcare access (diagnosis and management) and longevity of the population. Clinical data regarding the management of RBDs in this setting are sparse, but the perioperative care team is obliged to gain a better understanding on available biological and pharmacological hemostatic agents...
September 1, 2017: British Journal of Anaesthesia
https://www.readbyqxmd.com/read/28960694/high-incidence-of-fxi-deficiency-in-a-spanish-town-caused-by-11-different-mutations-and-the-first-duplication-of-f11-results-from-the-yecla-study
#4
J Esteban, M E de la Morena-Barrio, S Salloum-Asfar, J Padilla, A Miñano, V Roldán, J M Soria, F Vidal, J Corral, V Vicente
INTRODUCTION: Factor XI (FXI) deficiency is a rare disorder with molecular heterogeneity in Caucasians but relatively frequent and molecularly homogeneous in certain populations. AIM: To characterize FXI deficiency in a Spanish town of 60 000 inhabitants. METHODS: A total of 324 764 APTT tests were screened during 20 years. FXI was evaluated by FXI:C and by Western blot. Genetic analysis of F11 was performed by sequencing, multiplex ligation-dependent probe amplification and genotyping...
November 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28804834/one-stage-factor-viii-assays
#5
Elizabeth Duncan, Susan Rodgers
Coagulation factor assays using one-stage methodology are widely used to measure factor levels for the purpose of detecting a deficiency, or to monitor replacement therapy. In this chapter, we focus on a method to measure Factor VIII coagulant activity (FVIII:C) by the one-stage assay (FVIII:C-1), with extra information provided to also allow this method to apply to Factor IX (FIX), Factor XI (FXI), and Factor XII (FXII). From the perspective of laboratory testing, these factors are components of the "intrinsic" coagulation pathway and are all measured in test systems based on the correction of the Activated Partial Thromboplastin Time (APTT)...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28677246/factor-xi-deficient-mice-exhibit-increased-bleeding-after-injury-to-the-saphenous-vein
#6
C Ay, Y Hisada, B C Cooley, N Mackman
Essentials Factor XI (FXI) deficient mice have normal hemostasis in a tail transection model. The hemostatic capacity of FXI(-/-) mice was assessed in three different bleeding models. FXI(-/-) mice have increased saphenous vein bleeding. FXI(-/-) mice may be a useful experimental model to study bleeding associated with FXI deficiency. SUMMARY: Background Factor XI (FXI) is a key component of the intrinsic pathway of coagulation. It can be activated by either FXIIa or thrombin and amplifies thrombin generation during clot formation...
July 4, 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28622635/management-of-parturients-with-factor-xi-deficiency-10year-case-series-and-review-of-literature
#7
REVIEW
Lynda Verghese, Efterpi Tingi, Jecko Thachil, Charles Hay, Louise Byrd
This is an article reviewing the management of pregnant women with factor XI (FXI) deficiency. Retrospective review of the electronic records of 67 pregnancies in 25 women with FXI deficiency over a ten-year period was undertaken. All women received care at St Mary's Tertiary Referral Obstetric/Haematology Clinic for some or all of their pregnancies. Outcome measures included antenatal complications, mode of delivery, anaesthesia provided and postpartum haemorrhage (PPH) and management required. A positive bleeding history was identified in 50% of women prior to pregnancy...
August 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28615222/exploring-the-global-landscape-of-genetic-variation-in-coagulation-factor-xi-deficiency
#8
Rosanna Asselta, Elvezia Maria Paraboschi, Valeria Rimoldi, Marzia Menegatti, Flora Peyvandi, Ophira Salomon, Stefano Duga
Factor XI (FXI) deficiency is an autosomal bleeding disorder, usually posttrauma or postsurgery, characterized by reduced levels of coagulation FXI in plasma. The disease is highly prevalent in Ashkenazi Jews (heterozygote frequency, ∼9%), whereas it is considered a rare condition in most populations (prevalence of the severe deficiency, 1 in 10(6) in the white population). So far, >190 causative mutations have been identified throughout the F11 gene. To have a global landscape of genetic variation of F11, we explored publicly available exome-based data obtained from >60 000 individuals belonging to different ethnicities (Exome Aggregation Consortium resource)...
July 27, 2017: Blood
https://www.readbyqxmd.com/read/28609141/factor-11-single-nucleotide-variants-in-women-with-heavy-menstrual-bleeding
#9
Sophie Wiewel-Verschueren, André B Mulder, Karina Meijer, René Mulder
In a previous study it was shown that lower factor XI (FXI) levels in women with heavy menstrual bleeding (HMB). Our aim was to determine the single-nucleotide variants (SNVs) in the F11 gene in women with HMB. In addition, an extensive literature search was performed to determine the clinical significance of each SNV. Patients referred for HMB (PBAC-score >100) were included. With direct sequencing analysis of all 15 exons and flanking introns of the F11 gene, 29 different non-structural SNVs were detected in 49 patients with HMB...
June 13, 2017: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28492700/coagulation-factor-xi-improves-host-defence-during-murine-pneumonia-derived-sepsis-independent-of-factor-xii-activation
#10
Ingrid Stroo, Sacha Zeerleder, Chao Ding, Brenda M Luken, Joris J T H Roelofs, Onno J de Boer, Joost C M Meijers, Francis J Castellino, Cornelis van 't Veer, Tom van der Poll
Bacterial pneumonia, the most common cause of sepsis, is associated with activation of coagulation. Factor XI (FXI), the key component of the intrinsic pathway, can be activated via factor XII (FXII), part of the contact system, or via thrombin. To determine whether intrinsic coagulation is involved in host defence during pneumonia and whether this is dependent on FXII activation, we infected in parallel wild-type (WT), FXI knockout (KO) and FXII KO mice with two different clinically relevant pathogens, the Gram-positive bacterium Streptococcus pneumoniae and the Gram-negative bacterium Klebsiella pneumoniae, via the airways...
July 26, 2017: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/28388959/autosomal-recessive-inherited-bleeding-disorders-in-pakistan-a-cross-sectional-study-from-selected-regions
#11
Arshi Naz, Muhammad Younus Jamal, Samina Amanat, Ikram Din Ujjan, Akber Najmuddin, Humayun Patel, Fazle Raziq, Nisar Ahmed, Ayisha Imran, Tahir Sultan Shamsi
BACKGROUND: Autosomal recessive bleeding disorders (ARBDs) include deficiencies of clotting factors I, II, V, VII, X, XI, XIII, vitamin K dependent clotting factors, combined factor V & VIII, Von Willebrand Disease (vWD) type 3, Glanzmann's thrombasthenia (GT) and Bernard-Soulier syndrome. Patients with primary bleeding disorders from all the major provincial capitals of Pakistan were screened for ARBDs. Prothrombin (PT), activated partial thromboplastin time (APTT), bleeding time (BT) and fibrinogen levels were measured...
April 7, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28373973/establishment-of-the-world-health-organization-2-nd-international-standard-for-factor-xi-plasma-human
#12
Helen Wilmot, Jason Hockley, Peter Rigsby, Elaine Gray
The 1(st) International Standard (IS) for blood coagulation factor XI (FXI), plasma, has been successfully used for potency labeling of FXI therapeutics and for diagnosis of FXI deficiency in patients. With stocks of the 1(st) IS near depletion, a replacement is required. In addition to the functional activity value, assignment of an antigen value to the 2(nd) IS would allow harmonization of antigen assay methods and differentiation of patients who have low functional activity but normal antigen FXI levels from patients who have both low functional and antigen FXI levels...
2017: Frontiers in Medicine
https://www.readbyqxmd.com/read/28295573/therapeutic-plasma-exchange-for-perioperative-management-of-patients-with-congenital-factor-xi-deficiency
#13
Mohamed S Alsammak, Aneel A Ashrani, Jeffrey L Winters, Rajiv K Pruthi
BACKGROUND: Factor XI (FXI) deficiency (hemophilia C [HEM-C]) is a bleeding disorder with unpredictable severity that correlates poorly with FXI coagulation activity (FXI:C). It poses a perioperative hemostatic management challenge. For US patients with severe disease, fresh frozen plasma (FFP) or, in current use, thawed plasma is the most readily available option but comes with risk of volume overload. We report our experience of using therapeutic plasma exchange (TPE) as an alternative perioperative management strategy...
March 15, 2017: Journal of Clinical Apheresis
https://www.readbyqxmd.com/read/28263027/coagulation-factors-anticoagulant-proteins-and-plasminogen-in-mexican-older-adults
#14
E Hernández Zamora, L O González-Espinosa, C Zavala-Hernández, E Rosales-Cruz, E Reyes-Maldonado
INTRODUCTION: Hemostasis protects upon the occurrence of vascular endothelial damage, with involving of different factors. The interaction of these factors in older adults is poorly known, and has been associated with different disorders. Therefore, we determined the activity of coagulation factors (CF), anticoagulant proteins (AP), and plasminogen (Plg), as well as the frequency of deficiencies of these proteins in a population of healthy Mexican older adults (OA). METHODS: CF (I, II, V, VII, VIII, IX, X, and XI y XII), AP [protein C (PC), protein S (PS), and antithrombin (AT)], and Plg were determined from 244 plasma samples of OA using commercial kits in a coagulometer ACL Elite Pro...
March 6, 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28092924/evaluation-of-the-use-of-rotational-thromboelastometry-in-the-assessment-of-fxi-deficency
#15
G N Pike, A M Cumming, J Thachil, C R M Hay, P H B Bolton-Maggs, J Burthem
INTRODUCTION: The absence of a reliable clinical test to predict bleeding tendency leaves factor XI (FXI)-deficient individuals at risk of overtreatment or under treatment. AIM: To assess whether rotational thromboelastometry has value in detection of FXI deficiency and identification of bleeding tendency. METHODS: Thromboelastometry was measured in whole blood and platelet-rich plasma (PRP) samples containing corn trypsin inhibitor (CTI) from controls (n = 50) and FXI-deficient individuals (n = 93) at tissue factor (TF) 0...
January 16, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28053049/genome-wide-association-study-with-additional-genetic-and-post-transcriptional-analyses-reveals-novel-regulators-of-plasma-factor-xi-levels
#16
Bengt Sennblad, Saonli Basu, Johanna Mazur, Pierre Suchon, Angel Martinez-Perez, Astrid van Hylckama Vlieg, Vinh Truong, Yuhuang Li, Jesper R Gådin, Weihong Tang, Vera Grossman, Hugoline G de Haan, Niklas Handin, Angela Silveira, Juan Carlos Souto, Anders Franco-Cereceda, Pierre-Emmanuel Morange, France Gagnon, Jose Manuel Soria, Per Eriksson, Anders Hamsten, Lars Maegdefessel, Frits R Rosendaal, Philipp Wild, Aaron R Folsom, David-Alexandre Trégouët, Maria Sabater-Lleal
Coagulation factor XI (FXI) has become increasingly interesting for its role in pathogenesis of thrombosis. While elevated plasma levels of FXI have been associated with venous thromboembolism and ischemic stroke, its deficiency is associated with mild bleeding. We aimed to determine novel genetic and post-transcriptional plasma FXI regulators.We performed a genome-wide association study (GWAS) for plasma FXI levels, using novel data imputed to the 1000 Genomes reference panel. Individual GWAS analyses, including a total of 16,169 European individuals from the ARIC, GHS, MARTHA and PROCARDIS studies, were meta-analysed and further replicated in 2,045 individuals from the F5L family, GAIT2 and MEGA studies...
February 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/27913544/treatment-of-rare-factor-deficiencies-in-2016
#17
REVIEW
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
#18
Ingrid Stroo, Jack Yang, J 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...
February 1, 2017: 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
#19
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)...
March 2017: 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
#20
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
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