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Fxi deficiency

Kankan Su, Xiaoxiao Cai, Wenli Xia, Yanhui Jin, Lihong Yang, Mingshan Wang
: The objective is to study a gene mutation (Tyr503Cys) found in a Chinese consanguineous marriage family with inherited factor XI (FXI) deficiency (cross-reacting material positive, type II). The FXI activity and FXI antigen were tested with clotting assay and ELISA, respectively. The FXI gene was amplified by PCR with direct sequencing. ClustalX-2.1-win and three online bioinformatics softwares were used to study the conservatism and harm of the mutation. The proband had reduced FXI: activity at 13%; three members had decreased to about 35%, all of whom had nomal FXI: antigen...
March 13, 2018: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
Margaret L McCarthy, Sarah M Ordway, Ryan M Jones, Jeremy G Perkins
Factor XI (FXI) deficiency is an autosomal disorder which manifests as bleeding of varying severity. While homozygotes typically experience more dramatic bleeding symptoms, heterozygotes may experience clinically significant bleeding following surgical procedures or trauma, and therefore the condition is not purely recessive. The clinical significance of FXI deficiency is complicated in that FXI levels do not correlate well with bleeding severity, and in fact the bleeding risk is variable even for an individual in response to different haemostatic challenges...
February 21, 2018: BMJ Case Reports
Michael G Fitzsimons, Rebecca Karp Leaf, Johnathan Mack, Pavan K Bendapudi, Tao Shen, Duke E Cameron
Factor XI deficiency is associated with significant bleeding in the setting of trauma and surgery. We present a patient with FXI deficiency and multiple red blood cell allo-antibodies requiring repeat aortic root replacement and discuss the perioperative management of patients with FXI deficiency undergoing cardiac surgery.
February 4, 2018: Journal of Cardiac Surgery
J Gebhart, S Hofer, S Panzer, P Quehenberger, R Sunder-Plassmann, G Hoermann, E Eigenbauer, H Haslacher, S Kepa, P A Kyrle, S Eichinger, P Knöbl, L Eischer, C Mannhalter, C Ay, I Pabinger
INTRODUCTION: Data on clinical characteristics and the prevalence of underlying coagulopathies in patients with mild-to-moderate bleeding disorders (MBDs) are scarce. AIM: We established the Vienna Bleeding Biobank (VIBB) to characterize and thoroughly investigate Austrian patients with MBDs. RESULTS: Four hundred eighteen patients (female = 345, 82.5%) were included. A platelet function defect (PFD) was diagnosed in 26 (6.2%) and a possible PFD in 30 (7...
February 1, 2018: Haemophilia: the Official Journal of the World Federation of Hemophilia
Aryeh Shander, Tamara Friedman, Greg Palleschi, Linda Shore-Lesserson
A case of a patient with severe factor XI (FXI) deficiency who presented for her seventh labor and delivery is presented. The nature of FXI deficiency, its prevalence, and issues related to genetic screening are discussed. Published literature on the topic is reviewed, including criteria that were developed to assess bleeding, laboratory tools used to estimate bleeding risk, and available treatments. Within the context of this challenging clinical dilemma, specific recommendations are provided for the antepartum, intrapartum, and postpartum stages of pregnancy...
January 29, 2018: Anesthesia and Analgesia
Salam Salloum-Asfar, María E de la Morena-Barrio, Julio Esteban, Antonia Miñano, Cristina Aroca, Vicente Vicente, Vanessa Roldán, Javier Corral
INTRODUCTION: Congenital FXI deficiency, a coagulopathy associated with low bleeding risk but thrombotic protection, is usually diagnosed by prolonged APTT and confirmed by coagulation assays. Recent evidences suggest that FXI deficiency might be underestimated. Sensitive and reliable methods to detect FXI deficiency are required. AIM: To examine the sensitivity of two methods and two contact activators on FXI deficiency screening. METHODS: 140 cases with FXI deficiency, 9 severe and 131 moderate, caused by 11different mutations were recruited...
January 3, 2018: Thrombosis Research
Reut Shnerb Ganor, Dror Harats, Ginette Schiby, Kinneret Rosenblatt, Irit Lubitz, Aviv Shaish, Ophira Salomon
Atherosclerosis and Alzheimer's disease (AD) are a major cause of morbidity and mortality in Western societies. These diseases share common risk factors, which are exhibited in old age, including hypertension, diabetes, hypercholesterolemia and apolipoprotein (Apo) ε4 allele. We previously demonstrated that factor XI (FXI) deficiency in mice reduced the atherosclerotic plaque area in coronary sinuses and the aortic arch. This led us to investigate whether FXI deficiency in elderly ApoE knockout (KO) mice would decrease pathological alterations compatible with atherosclerosis and AD...
February 2018: Molecular Medicine Reports
Xiaomei Ge, Yasuto Yamaguchi, Lei Zhao, Loredana Bury, Paolo Gresele, Caroline Berube, Lawrence L Leung, John Morser
Chemerin is a chemoattractant and adipokine that circulates in blood as inactive prochemerin (chem163S). Chem163S is activated by a series of C-terminal proteolytic cleavages resulting in diverse chemerin forms with different levels of activity. We screened a panel of proteases in the coagulation, fibrinolytic and inflammatory cascades to identify those that process prochemerin in plasma. Factor XIa (FXIa) cleaved chem163S, generating a novel chemerin form, chem162R, as an intermediate product, and chem158K, as the final product...
November 20, 2017: Blood
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
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
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
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
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
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
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
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
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
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
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
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
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