1,406 results match your criteria Factor XI Deficiency


[Development of a cell-based diagnostic system for vitamin K-dependent coagulation factor deficiency 1].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 Aug;37(8):811-814

College of Medicine, Henan University of Science and Technology, Luoyang, Henan 471023, China.

Objective: To develop a cell-based system for the diagnosis of vitamin K-dependent coagulation factor deficiency 1 (VKCFD1).

Methods: In HEK293 cells stably expressing the reporter gene FIX-Gla-PC, the gamma-glutamyl carboxylase (GGCX) gene was knocked out by using CRISPR/Cas9 technology. Enzyme-linked immunosorbent assay (ELISA), DNA sequencing and Western blotting were used to identify the GGCX gene knockout cells. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2020.08.002DOI Listing

Protease: Serpin complexes to assess contact system and intrinsic pathway activation.

Res Pract Thromb Haemost 2020 Jul 25;4(5):789-798. Epub 2020 Jun 25.

Department of Pathology and Laboratory Medicine University of North Carolina at Chapel Hill Chapel Hill NC USA.

Mounting evidence suggests that a variety of disease states are pathophysiologically related to activation of the contact system in vivo. The plasma contact system is composed of a cascade of serine proteases initiated by surface activation of factor XII, which can then proceed through a procoagulant pathway by activating the intrinsic coagulation factor XI, or a proinflammatory pathway by activating prekallikrein. Serpins are the primary endogenous inhibitors of the contact system, which irreversibly inhibit their respective protease(s), forming a stable complex. Read More

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http://dx.doi.org/10.1002/rth2.12389DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7354413PMC

Platelet-primed interactions of coagulation and anticoagulation pathways in flow-dependent thrombus formation.

Sci Rep 2020 Jul 17;10(1):11910. Epub 2020 Jul 17.

Departments of Biochemistry and Internal Medicine, Cardiovascular Research Institute Maastricht (CARIM), Maastricht University Medical Centre+, P.O. Box 616, 6200 MD, Maastricht, The Netherlands.

In haemostasis and thrombosis, platelet, coagulation and anticoagulation pathways act together to produce fibrin-containing thrombi. We developed a microspot-based technique, in which we assessed platelet adhesion, platelet activation, thrombus structure and fibrin clot formation in real time using flowing whole blood. Microspots were made from distinct platelet-adhesive surfaces in the absence or presence of tissue factor, thrombomodulin or activated protein C. Read More

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http://dx.doi.org/10.1038/s41598-020-68438-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7368055PMC

Epidural/spinal anesthesia during delivery in women with factor XI deficiency, a single center experience.

Haemophilia 2020 Jul 14. Epub 2020 Jul 14.

Institute of Hematology, Davidoff Cancer Center, Beilinson Hospital, Rabin Medical Center, Petah-Tikva, Israel.

Introduction: The safety of neuro-axial anaesthesia (epidural/spinal) at labour of women with partial factor XI (FXI) deficiency is uncertain. Although FXI deficiency is frequent in Ashkenazi Jews, it is not routinely measured before labour. Our institute serves a large Ashkenazi population. Read More

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http://dx.doi.org/10.1111/hae.14079DOI Listing

Postpartum haemorrhage in women with mild factor XI deficiency.

Haemophilia 2020 Jul 17;26(4):663-666. Epub 2020 Jun 17.

Division of Hemostasis and Thrombosis, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts, USA.

Introduction: With the advent of direct-to-consumer genetic testing, mild factor XI deficiency is increasingly recognized. There are limited data regarding the risk of postpartum haemorrhage (PPH) among women with mild FXI deficiency following obstetrical delivery.

Aim: To assess the risk of PPH among women with mild FXI deficiency undergoing vaginal or caesarean delivery. Read More

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http://dx.doi.org/10.1111/hae.14081DOI Listing

[Gene analysis of a family with hereditary coagulation factor XI deficiency].

Zhonghua Xue Ye Xue Za Zhi 2020 05;41(5):422-424

The First Affiliated Hospital of Wenzhou Medical University, Wenzhou 325000, China.

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http://dx.doi.org/10.3760/cma.j.issn.0253-2727.2020.05.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7342070PMC

ALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant.

Mol Genet Genomic Med 2020 Jun 12:e1304. Epub 2020 Jun 12.

Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, CIBERER, Universidad de Murcia, IMIB-Arrixaca, Murcia, Spain.

Background: Congenital disorder of glycosylation (CDG) type I is a group of rare disorders caused by recessive mutations in up to 25 genes that impair the N-glycan precursor formation and its transfer to proteins resulting in hypoglycosylation of multiple proteins. Congenital disorder of glycosylation causes multisystem defects usually with psychomotor delay that is diagnosed in the infancy. We aim to supply further evidences supporting that CDG may be underestimated. Read More

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http://dx.doi.org/10.1002/mgg3.1304DOI Listing

Molecular analysis in 12 factor XI deficiency patients from China: Identification of three novel splicing mutations.

Thromb Res 2020 08 20;192:100-102. Epub 2020 May 20.

State Key Laboratory of Experimental Hematology, National Clinical Research Center for Hematological Disorders, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin, PR China; CAMS Key Laboratory of Gene Therapy for Blood Diseases, Tianjin, PR China; Tianjin Laboratory of Blood Disease Gene Therapy, Tianjin, PR China. Electronic address:

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http://dx.doi.org/10.1016/j.thromres.2020.05.027DOI Listing
August 2020
2.447 Impact Factor

CD36-fibrin interaction propagates FXI-dependent thrombin generation of human platelets.

FASEB J 2020 May 28. Epub 2020 May 28.

Center for Thrombosis and Hemostasis (CTH), University Medical Center, Johannes Gutenberg-University Mainz, Mainz, Germany.

Thrombin converts fibrinogen to fibrin and activates blood and vascular cells in thrombo-inflammatory diseases. Platelets are amplifiers of thrombin formation when activated by leukocyte- and vascular cell-derived thrombin. CD36 on platelets acts as sensitizer for molecules with damage-associated molecular patterns, thereby increasing platelet reactivity. Read More

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http://dx.doi.org/10.1096/fj.201903189RDOI Listing

The clinical management of factor XI deficiency in pregnant women.

Expert Rev Hematol 2020 Jul 12;13(7):719-729. Epub 2020 Jun 12.

Department of Pathology, Microbiology and Immunology, Vanderbilt University , Nashville, TN, USA.

Introduction: Factor XI (FXI) deficiency is associated with highly variable bleeding, including excessive gynecologic and obstetrical bleeding. Since approximately 20% of FXI-deficient women will experience pregnancy-related bleeding, careful planning and knowledge of appropriate hemostatic management is pivotal for their care.

Areas Covered: In this manuscript, authors present our current understanding of the role of FXI in hemostasis, the nature of the bleeding phenotype caused by its deficiency, and the impact of deficiency on obstetrical care. Read More

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http://dx.doi.org/10.1080/17474086.2020.1772745DOI Listing

Cardiac surgery in patients with Hemophilia:is it safe?

J Cardiothorac Surg 2020 05 8;15(1):76. Epub 2020 May 8.

The National Hemophilia Center, Chaim Sheba Medical Center, Tel-Hashomer, 52621, Ramat-Gan, Israel.

Background: The life expectancy of hemophiliacs is similar to that of the general population. As a result, the prevalence of age-related cardiovascular diseases has increased. We present our experience with hemophilia patients who underwent cardiac surgery in our Medical Center between 2004 and 2019. Read More

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http://dx.doi.org/10.1186/s13019-020-01123-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7206692PMC

[Identification of novel compound heterozygous variants in a pedigree affected with hereditary coagulation factor XI deficiency].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 May;37(5):501-504

Center of Laboratory Medicine, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325015, China.

Objective: To analyze the phenotype and genetic basis for a pedigree affected with hereditary coagulation factor XI deficiency.

Methods: Activated partial thromboplastin time (APTT), prothrombin time (PT), fibrinogen (FIB), FXI activity (FXI:C) and the antigen of FXI (FXI:Ag) were determined for the proband and members from his pedigree. Sanger sequencing was used to analyze all exons, exon-intronic boundaries, as well as the 5'- and 3'- untranslated regions of the F11 gene. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2020.05.002DOI Listing

A novel F11 mutation in a Chinese paediatric patient with severe factor XI deficiency.

Thromb Res 2020 06 18;190:89-90. Epub 2020 Apr 18.

Department of Anatomical and Cellular Pathology, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, China.

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http://dx.doi.org/10.1016/j.thromres.2020.04.016DOI Listing

Perioperative anesthetic management in a patient with factor XI deficiency undergoing coronary artery bypass graft surgery.

J Card Surg 2020 Jun 25;35(6):1375-1379. Epub 2020 Apr 25.

Department of Anesthesiology and Reanimation, Gülhane Training and Research Hospital, Ankara, Turkey.

Spontaneous bleeding is rare in patients with factor XI deficiency and significant bleeding usually occurs after a trauma or a surgical procedure. It is difficult to maintain hemostatic balance in these patients. In the present case report, a 68-year-old male patient with no chronic disease was scheduled for elective cardiopulmonary bypass surgery. Read More

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http://dx.doi.org/10.1111/jocs.14581DOI Listing

Characterization of hereditary factor XI deficiency in Taiwanese patients: identification of three novel and two common mutations.

Int J Hematol 2020 Aug 24;112(2):169-175. Epub 2020 Apr 24.

Division of Hematology/Oncology, Changhua Christian Hospital, No. 135, Nan-Hsiao Street, Changhua, Taiwan.

Hereditary coagulation factor XI (FXI) deficiency is a rare bleeding disorder, but information on FXI deficiency in Taiwanese patients remains scarce. We evaluated clinical and genetic features of severe FXI deficiency patients in Taiwan. We collected clinical information and performed coagulation laboratory tests and genetic studies in ten unrelated Taiwanese families with severe FXI deficiency. Read More

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http://dx.doi.org/10.1007/s12185-020-02883-0DOI Listing

Hemophilia C: A Case Report With Updates on Diagnosis and Management of a Rare Bleeding Disorder.

J Hematol 2019 Sep 30;8(3):144-147. Epub 2019 Sep 30.

Division of Hematology Oncology, Department of Medicine, Allegheny General Hospital, Pittsburgh, PA 15212, USA.

Hemophilia C or factor XI deficiency is a rare clotting disorder with prevalence of only 1 per 1 million. A 24-year-old male with multiple abdominal surgeries complicated by wound infections and poor healing was admitted to plastic surgery service for an elective abdominoplasty. Hematology was consulted for increased intraoperative and postoperative bleeding. Read More

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http://dx.doi.org/10.14740/jh522DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7153668PMC
September 2019

When genetic and surname analyses meet historical sources: The C56R mutation associated with factor XI deficiency as a marker of human migration during the Spanish Reconquista.

Med Hypotheses 2020 Aug 6;141:109709. Epub 2020 Apr 6.

Servicio de Hematología Hospital, Virgen del Castillo de Yecla, Murcia, Spain.

The C56R mutation associated with factor XI deficiency has been first evidenced in individuals from the French Basque Country. Genetic investigations revealed that this mutation occurred about 5400 years ago as a founder effect in this zone. Other cases were subsequently described in Southwestern Europe. Read More

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http://dx.doi.org/10.1016/j.mehy.2020.109709DOI Listing

Clot Formation in Cardiopulmonary Bypass Circuit After Application of Factor XI Concentrate.

J Cardiothorac Vasc Anesth 2020 Aug 12;34(8):2178-2180. Epub 2020 Feb 12.

Department of Anesthesiology, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1053/j.jvca.2020.02.013DOI Listing

[Phenotype and Genotype Analysis in Two Pedigrees with Hereditary Coagulation Factor Ⅺ Deficiency].

Sichuan Da Xue Xue Bao Yi Xue Ban 2020 Mar;51(2):252-256

Central Laboratory, Chaozhou Central Hospital Affiliated to Southern Medical University, Chaozhou 521000, China.

Objective: To analyze the phenotype and genotype in two pedigrees with hereditary coagulation factor Ⅺ (FⅪ) deficiency, and investigate the molecular mechanisms of FⅪ deficiency.

Methods: Two patients with hereditary coagulation FⅪ deficiency were admitted to Chaozhou Central Hospital in Nov 2014 and Jan 2018. The prothrombin time (PT), activated partial thromboplastin time (APTT), FⅪ activity (FⅪ∶C) and FⅪ antigen (FⅪ∶Ag) were tested for phenotypic diagnosis. Read More

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http://dx.doi.org/10.12182/20200360601DOI Listing

Down-Regulation of Fibroblast Growth Factor 2 (FGF2) Contributes to the Premature Senescence of Mouse Embryonic Fibroblast.

Med Sci Monit 2020 Mar 19;26:e920520. Epub 2020 Mar 19.

Department of Immunology, School of Basic Medicine, Hubei University of Medicine, Shiyan, Hubei, China (mainland).

BACKGROUND Freshly isolated mouse embryonic fibroblasts (MEFs) have great proliferation capacity but quickly enter senescent state after several rounds of cell cycle, a process called premature senescence. Cellular senescence can be induced by various stresses such as telomere erosion, DNA damage, and oncogenic signaling. But the contribution of other molecules, such as growth factors, to cellular senescence is incompletely understood. Read More

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http://dx.doi.org/10.12659/MSM.920520DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7104787PMC

Congenital factor XI deficiency caused by a novel F11 missense variant: a case report.

Croat Med J 2020 Feb;61(1):62-65

Kristina Gotovac Jerčić, Department of Neurology, University Clinical Hospital Zagreb, Kišpatićeva 12, 10 000 Zagreb, Croatia,

Hereditary factor XI (FXI) deficiency is a mild bleeding disorder, rare in the general population but relatively common among Ashkenazi Jews. The human F11 gene comprises 15 exons, spanning over 23 kb of the long arm of chromosome 4 (4q35). Homozygotes or compound heterozygotes typically show severe FXI deficiency, whereas heterozygotes show partial or mild deficiency. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7063557PMC
February 2020

Changes of coagulation parameters during erythema marginatum in patients with hereditary angioedema.

Int Immunopharmacol 2020 Apr 17;81:106293. Epub 2020 Feb 17.

Hungarian Angioedema Reference Center, 3rd Department of Internal Medicine, Semmelweis University, Budapest H-1125, Hungary. Electronic address:

Background: Hereditary angioedema (HAE) with C1-inhibitor deficiency (C1-INH-HAE) is characterized by recurrent episodes of subcutaneous/submucosal edema, which may be preceded by erythema marginatum (EM) as a prodromal symptom. Our aim was to analyze the changes occurring in the parameters of the coagulation system during the development of EM and HAE attacks.

Materials And Methods: Eight C1-INH-HAE patients (1 male, 7 females, median age: 41. Read More

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http://dx.doi.org/10.1016/j.intimp.2020.106293DOI Listing

Investigation of patients with unclassified bleeding disorder and abnormal thrombin generation for physiological coagulation inhibitors reveals multiple abnormalities and a subset of patients with increased tissue factor pathway inhibitor activity.

Int J Lab Hematol 2020 Jun 31;42(3):246-255. Epub 2020 Jan 31.

Department of Haematology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.

Introduction: We have routinely used thrombin generation to investigate patients with unclassified bleeding disorder (UBD).

Aims: To investigate haemostatic abnormalities in patients with UBD that had abnormal thrombin generation on at least one occasion.

Methods: Investigation of 13 known UBD patients with thrombin generation and detailed haemostatic testing was undertaken including TFPI assays but also thrombomodulin and fibrinogen-γ. Read More

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http://dx.doi.org/10.1111/ijlh.13155DOI Listing

Salidroside improves high-fat diet-induced non-alcoholic steatohepatitis by regulating the gut microbiota-bile acid-farnesoid X receptor axis.

Biomed Pharmacother 2020 Apr 25;124:109915. Epub 2020 Jan 25.

Institute of Liver Disease, Shuguang Hospital, Shanghai University of Traditional Chinese Medicine, Shanghai, 201203, China. Electronic address:

Background: Our previous studies found that salidroside can effectively treat non-alcoholic steatohepatitis (NASH). Here, we discuss the mechanism of salidroside in the treatment of NASH with a focus on the gut microbiota-bile acid-farnesoid X receptor axis.

Methods: A NASH mouse model was created by providing mice with a high-fat diet (HFD) for 14 weeks. Read More

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http://dx.doi.org/10.1016/j.biopha.2020.109915DOI Listing

Combined Congenital Hypodysfibrinogemia and Factor XI Deficiency in a Chinese Family.

Acta Haematol 2020 Jan 24:1-6. Epub 2020 Jan 24.

Department of Medical Laboratory, First Affiliated Hospital of Nanchang University, Nanchang, China,

Both congenital hypodysfibrinogenemia and factor XI deficiency are rare coagulopathies caused by mutations within the fibrinogen and F11 genes, respectively. To investigate the pathogenesis of combined congenital hypodysfibrinogenemia with factor XI (FXI) deficiency in a Chinese family, coagulation assays, FXI activity (the 1-stage method), fibrinogen activity (the Clauss method), and antigen (prothrombin time [PT]-derived method) were performed. The sequences of fibrinogen genes and F11 were amplified by PCR and analyzed by direct sequencing. Read More

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http://dx.doi.org/10.1159/000505012DOI Listing
January 2020

Differential roles of factors IX and XI in murine placenta and hemostasis under conditions of low tissue factor.

Blood Adv 2020 Jan;4(1):207-216

UNC Blood Research Center, Division of Hematology and Oncology, Department of Medicine, and.

The intrinsic tenase complex (FIXa-FVIIIa) of the intrinsic coagulation pathway and, to a lesser extent, thrombin-mediated activation of FXI, are necessary to amplify tissue factor (TF)-FVIIa-initiated thrombin generation. In this study, we determined the contribution of murine FIX and FXI to TF-dependent thrombin generation in vitro. We further investigated TF-dependent FIX activation in mice and the contribution of this pathway to hemostasis. Read More

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http://dx.doi.org/10.1182/bloodadvances.2019000921DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6960463PMC
January 2020

Loss of PARP-1 attenuates diabetic arteriosclerotic calcification via Stat1/Runx2 axis.

Cell Death Dis 2020 01 10;11(1):22. Epub 2020 Jan 10.

Department of Pharmacology, College of Pharmacy, Xinxiang Medical University, Xinxiang, China.

Accelerated atherosclerotic calcification is responsible for plaque burden, especially in diabetes. The regulatory mechanism for atherosclerotic calcification in diabetes is poorly characterized. Here we show that deletion of PARP-1, a main enzyme in diverse metabolic complications, attenuates diabetic atherosclerotic calcification and decreases vessel stiffening in mice through Runx2 suppression. Read More

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http://dx.doi.org/10.1038/s41419-019-2215-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6954221PMC
January 2020

Detection of intrinsic pathway factor deficiency associated with bleeding risk by kaolin-based aPTT.

Int J Lab Hematol 2020 06 6;42(3):e107-e109. Epub 2020 Jan 6.

CHRU Brest, Service d'Hématologie Biologique, Brest, France.

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http://dx.doi.org/10.1111/ijlh.13149DOI Listing

Gene variants in four pedigrees with hereditary coagulation factor XI deficiency and one novel mutation identification.

Blood Coagul Fibrinolysis 2020 Mar;31(2):160-164

Central Laboratory.

: Coagulation factor XI (FXI) deficiency is a bleeding disorder with unpredictable severity. Patients with this condition usually suffer bleeding manifestations after trauma or surgery and are poorly correlated with plasma FXI activity (FXI:C). In the current study, we examined and identified the phenotype and genotype in four unrelated probands and their 32 relatives with hereditary FXI deficiency. Read More

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http://dx.doi.org/10.1097/MBC.0000000000000861DOI Listing

SGK1 Mediates Hypoxic Pulmonary Hypertension through Promoting Macrophage Infiltration and Activation.

Anal Cell Pathol (Amst) 2019 13;2019:3013765. Epub 2019 Nov 13.

Department of Pulmonary and Critical Care, Beijing Anzhen Hospital, Capital Medical University, Beijing, China.

Inflammation plays a pivotal role in the development of pulmonary arterial hypertension (PAH). Meanwhile, serum glucocorticoid-regulated kinase-1 (SGK1) has been considered to be an important factor in the regulation of inflammation in some vascular disease. However, the role of SGK1 in hypoxia-induced inflammation and PAH is still unknown. Read More

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http://dx.doi.org/10.1155/2019/3013765DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6877960PMC

Heterozygote carriers of mutations in the F11 gene, encoding Factor XI, have normal coagulation by thromboelastography during pregnancy.

Int J Obstet Anesth 2020 05 9;42:57-60. Epub 2019 Nov 9.

Department of Anesthesia, Critical Care, and Pain Medicine, Beth Israel Deaconess Medical Center. Boston, USA. Electronic address:

Background: Evidence to guide clinical decision-making in pregnant women who are usually asymptomatic, but identified as heterozygote carriers of F11 mutations, is lacking. We hypothesized that women identified on prenatal screening as heterozygous for a mutation in the F11 allele would have minimal evidence of an in vitro coagulation abnormality.

Methods: We prospectively enrolled women identified by prenatal screening as F11 mutation carriers and pregnant women who were presumed to be normal as controls. Read More

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http://dx.doi.org/10.1016/j.ijoa.2019.11.001DOI Listing

Plasma Kallikrein Contributes to Coagulation in the Absence of Factor XI by Activating Factor IX.

Arterioscler Thromb Vasc Biol 2020 01 26;40(1):103-111. Epub 2019 Nov 26.

Laboratory for Clinical Thrombosis and Haemostasis, Departments of Biochemistry and Internal Medicine, Cardiovascular Research Institute Maastricht, Maastricht University, the Netherlands (M.V., R.v.O., H.t.C., H.M.H.S.).

Objectives: FXIa (factor XIa) induces clot formation, and human congenital FXI deficiency protects against venous thromboembolism and stroke. In contrast, the role of FXI in hemostasis is rather small, especially compared with FIX deficiency. Little is known about the cause of the difference in phenotypes associated with FIX deficiency and FXI deficiency. Read More

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http://dx.doi.org/10.1161/ATVBAHA.119.313503DOI Listing
January 2020
5 Reads

Global coagulation tests to assess the value of the presurgical treatment in a patient with congenital factor XI deficiency and inhibitor.

Int J Lab Hematol 2020 04 6;42(2):e68-e70. Epub 2019 Nov 6.

Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione Luigi Villa, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milano, Italy.

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http://dx.doi.org/10.1111/ijlh.13113DOI Listing

Congenital factor XI deficiency, complete genotype and phenotype of two Iranian families.

Blood Coagul Fibrinolysis 2019 Dec;30(8):409-412

Department of Hematology and Blood Transfusion, Faculty of Allied Medicine, Iran University of Medical Sciences.

: Congenital factor XI (FXI) deficiency is a mild trauma-related bleeding disorder with estimated worldwide prevalence of one per 1 million. The disorder is less frequent in Iran and a few studies have been performed on Iranian patients. In the current study, we assessed molecular, laboratory and clinical features of two Iranian patients with congenital FXI deficiency and their families. Read More

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http://dx.doi.org/10.1097/MBC.0000000000000862DOI Listing
December 2019
2 Reads
1.380 Impact Factor

Peri- and Postpartum Management of Patients With Factor XI Deficiency.

Clin Appl Thromb Hemost 2019 Jan-Dec;25:1076029619880262

Division of Hematology-Oncology, Department of Medicine, Weill Cornell Medicine, New York Presbyterian Hospital, NY, USA.

Factor XI (FXI) deficiency is an uncommon autosomal disorder with variable bleeding phenotype, making peripartum management challenging. We describe our experience in pregnant women with FXI deficiency and identify strategies to minimize the use of hemostatic agents and increase utilization of neuraxial anesthesia. Electronic records of 28 pregnant women with FXI deficiency seen by a hematology service in an academic medical center from January 2006 to August 2018 were reviewed. Read More

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http://dx.doi.org/10.1177/1076029619880262DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6900674PMC
March 2020
1 Read

Unprovoked Pulmonary Embolism in Factor VII Deficiency.

Acta Haematol 2020 7;143(2):181-183. Epub 2019 Oct 7.

Saint Joseph's University Medical Center, Paterson, New Jersey, USA.

Thrombotic events in bleeding disorders such as hemophilia A or B, Von Willebrand disease, afibrinogenemia, factor VII deficiency, and factor XI deficiency are rare but have been reported. These events usually occur in the presence of prothrombotic risk factors such as recent surgery, trauma, or factor replacement therapy. We present a case of a 68-year-old Hispanic female with a history of factor VII deficiency who presented with shortness of breath, chest pain, and palpitations and was found to have pulmonary embolism. Read More

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http://dx.doi.org/10.1159/000500441DOI Listing
April 2020
2 Reads

Women and inherited bleeding disorders - A review with a focus on key challenges for 2019.

Transfus Apher Sci 2019 Oct 9;58(5):613-622. Epub 2019 Aug 9.

Division of Hematology, Dalhousie University, Queen Elizabeth II Health Sciences Centre, Department of Medicine, Halifax, NS, Canada. Electronic address:

The area of women and inherited bleeding disorders has undergone quick expansion in recent years. More patients are being identified and expertise to diagnose and manage these patients is now essential for practising physicians. Programs to help educate and empower patients and caregivers are now in place. Read More

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http://dx.doi.org/10.1016/j.transci.2019.08.013DOI Listing
October 2019
1 Read

Genetic analysis of a pedigree with hereditary coagulation factor XI deficiency.

Blood Coagul Fibrinolysis 2019 Dec;30(8):413-418

Department of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, China.

: To identify potential mutations of F11 gene in a family with hereditary coagulation factor XI (FXI) deficiency and explore the molecular pathogenesis. The FXI activity and FXI antigen were tested with clotting assay and ELISA, respectively. The FXI gene was amplified by PCR with direct sequencing. Read More

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http://dx.doi.org/10.1097/MBC.0000000000000857DOI Listing
December 2019
1 Read

Impact of Deficiency of Intrinsic Coagulation Factors XI and XII on Ex Vivo Thrombus Formation and Clot Lysis.

TH Open 2019 Jul 10;3(3):e273-e285. Epub 2019 Sep 10.

Department of Biochemistry, Cardiovascular Research Institute Maastricht (CARIM), Maastricht University Medical Center, Maastricht, The Netherlands.

The contributions of coagulation factor XI (FXI) and FXII to human clot formation is not fully known. Patients with deficiency in FXI have a variable mild bleeding risk, whereas FXII deficiency is not associated with bleeding. These phenotypes make FXII and FXI attractive target proteins in anticoagulant therapy. Read More

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0039-1693485
Publisher Site
http://dx.doi.org/10.1055/s-0039-1693485DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6736668PMC
July 2019
2 Reads

Single Low Dose of rFVIIa Combined with Antifibrinolytic Agent is a Simple and Safe Treatment for Factor XI-Deficient Patients undergoing Surgery.

Thromb Haemost 2019 Dec 7;119(12):1927-1932. Epub 2019 Sep 7.

Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.

Background:  Factor XI (FXI) deficiency is a rare autosomal bleeding disorder. The rarity of spontaneous bleeding and absence of optimal tools to predict the bleeding risk in FXI-deficient patients hamper the standardization of prophylactic treatment enabling them to undergo major surgeries without blood products.

Objectives:  We explored the effectiveness of a single and very low dose of recombinant factor VIIa (rFVIIa) along with tranexamic acid (TXA) as prophylactic treatment for FXI-deficient patients undergoing various types of surgery at various sites of injury. Read More

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http://dx.doi.org/10.1055/s-0039-1696685DOI Listing
December 2019
3 Reads

Bleeding with negative coagulation screening test as initial presentation of chronic myelogenous leukemia managed by fresh frozen plasma: A case report.

Medicine (Baltimore) 2019 Aug;98(35):e16984

Department of Hematology, The First Hospital of Lanzhou University, Lanzhou, China.

Introduction: Chronic myelogenous leukemia (CML), a clonal disorder of pluripotent stem cell, rarely presents with bleeding in chronic phase due to the function preservation of the platelets. Factor (F) XIII deficiency, an extremely rare hemorrhagic disease, can cause fatal bleeding, which has been previously described in autoimmune disorders and leukemias.

Patient Concerns: A 38-year-old woman with a 20-day history of spontaneous subcutaneous hemorrhage visited our hospital, who presented with intracranial hemorrhage, hematuria, and delayed hematoma after a bone marrow puncture. Read More

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http://Insights.ovid.com/crossref?an=00005792-201908300-0005
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http://dx.doi.org/10.1097/MD.0000000000016984DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6736460PMC
August 2019
5 Reads

Comprehensive care for hemophilia and other inherited bleeding disorders.

Authors:
David Page

Transfus Apher Sci 2019 Oct 6;58(5):565-568. Epub 2019 Aug 6.

National Director of Health Policy, Canadian Hemophilia Society Montreal, Canada. Electronic address:

The World Federation of Hemophilia (WFH) states in its Guidelines for the Management of Hemophilia, Second Edition [1], that people with hemophilia are best managed in a comprehensive care setting. That team is typically comprised of a core group including a hematologist, nurse coordinator, physiotherapist, social worker, specialized lab technologist and data manager, and as needed, by other specialists. Hemophilia is an X-linked congenital bleeding disorder caused by a deficiency of coagulation factor VIII (FVIII) in hemophilia A or factor IX (FIX) in hemophilia B. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S14730502193015
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http://dx.doi.org/10.1016/j.transci.2019.08.005DOI Listing
October 2019
4 Reads

The use of prophylaxis in the treatment of rare bleeding disorders.

Authors:
Amy Shapiro

Thromb Res 2019 Jul 19. Epub 2019 Jul 19.

Indiana Hemophilia & Thrombosis Center, 8326 Naab Rd., Indianapolis, IN 46260, USA. Electronic address:

Rare bleeding disorders (RBDs) are a heterogeneous group of coagulation factor deficiencies that include fibrinogen, prothrombin, α-antiplasmin, plasminogen activator inhibitor-1, and factors II, V, V/VIII, VII, X, XI and XIII. The incidence varies based upon the disorder and typically ranges from 1 in 500,000 to 1 per million population. Symptoms vary with the disorder and residual level of the clotting factor, and can range from relatively minor such as epistaxis, to life threatening, such as intracranial hemorrhage. Read More

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http://dx.doi.org/10.1016/j.thromres.2019.07.014DOI Listing
July 2019
8 Reads

Ultrasound-Guided Thrombin Injection for Iliopsoas Pseudoaneurysm.

J Pediatr Intensive Care 2019 Sep 5;8(3):187-190. Epub 2019 Mar 5.

Vascular Surgery Unit, Meir Medical Center, Kfar Saba, Israel.

Bilateral iliopsoas hematoma is an uncommon phenomenon, which has been described in individuals receiving anticoagulation therapy. The hematoma is caused by bleeding of arteries to the muscle. In rare cases, pseudoaneurysms can also be formed. Read More

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http://dx.doi.org/10.1055/s-0039-1683385DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687481PMC
September 2019
2 Reads

[Novel mutations p.Lys327X and p.Leu424CysfsX8 underlying congenital factor Ⅺ deficiency].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 Aug;36(8):801-804

Department of Clinical Laboratory, Chaozhou Central Hospital Affiliated to Southern Medical University, Chaozhou, Guangdong 521021, China.

Objective: To analyze the phenotype and genetic mutations in a pedigree affected with factor Ⅺ (FⅪ) deficiency.

Methods: Activated partial thromboplastin time (APTT), FⅪ activity (FⅪ:C) and FⅪ antigen (FⅪ:Ag) were determined for the proband and his family members. All exons and exon-intron boundaries of the FⅪ gene of the proband were analyzed by direct sequencing. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2019.08.012DOI Listing
August 2019
1 Read

Factor IX for treating factor XI deficiency?

Authors:
David Gailani

Blood 2019 08;134(6):501-502

Vanderbilt University Medical Center.

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http://dx.doi.org/10.1182/blood.2019001826DOI Listing
August 2019
4 Reads

Factor XII (Hageman Factor) Deficiency: a rare harbinger of life threatening complications.

Pan Afr Med J 2019 21;33:39. Epub 2019 May 21.

Department of Internal Medicine King Salman Armed Forces Hospital Tabuk, Saudi Arabia.

Hageman factor (factor XII) has a key role in activation of intrinsic coagulation system gauged by activated partial thromboplastin time (aPPT). Hageman factor deficiency is more often an autosomal recessive condition, but an autosomal dominant inheritance is also reported. This condition in its own is not known to cause bleeding complications rather is associated with paradoxical fatal thromboembolic complications. Read More

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http://dx.doi.org/10.11604/pamj.2019.33.39.18117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6658145PMC
September 2019
3 Reads

A Sardinian Family with Factor XI Deficiency.

Hamostaseologie 2019 Nov 30;39(4):398-403. Epub 2019 Jul 30.

Department of Medical Science and Public Health, University of Cagliari, Cagliari, Italy.

Introduction:  Factor XI (FXI) deficiency is a bleeding disorder which causes a bleeding tendency after trauma or surgery. An inhibitor may be acquired secondary to replacement therapy.

Aim:  To study on genetical and functional grounds a family admitted to our Haemostasis and Thrombosis Centre for an incidental finding of a prolonged activated partial thromboplastin time (aPTT) in three members. Read More

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http://dx.doi.org/10.1055/s-0039-1691752DOI Listing
November 2019
9 Reads

miR-21 promotes NLRP3 inflammasome activation to mediate pyroptosis and endotoxic shock.

Cell Death Dis 2019 06 12;10(6):461. Epub 2019 Jun 12.

Laboratory of Immunology and Inflammation, Department of Immunology, Key Laboratory of Immune Microenvironment and Diseases of Educational Ministry of China, Tianjin Key Laboratory of Cellular and Molecular Immunology, Tianjin Medical University, 300070, Tianjin, China.

miR-21 is aberrantly expressed, and plays a role in various types of tumors and many other diseases. However, the mechanism of miR-21 in LPS-induced septic shock is still unclear. In this study, we investigated the mechanism of miR-21 in LPS-induced pyroptosis and septic shock. Read More

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http://dx.doi.org/10.1038/s41419-019-1713-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6561921PMC
June 2019
7 Reads
5.014 Impact Factor