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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/27824210/vkcfd2-from-clinical-phenotype-to-molecular-mechanism
#2
K J Czogalla, M Watzka, J Oldenburg
Vitamin K 2,3-epoxide reductase complex, subunit 1 (VKORC1) is an enzyme essential for the vitamin K cycle. VKORC1 catalyses the reduction of vitamin K 2,3-epoxide to the quinone form of vitamin K and further to vitamin K hydroquinone. The generated vitamin K hydroquinone serves as substrate for the enzyme γ-glutamyl-carboxylase which modifies all vitamin K-dependent proteins, allowing them to bind calcium ions necessary for physiological activity. Vitamin K-dependent proteins include the coagulation factors FII, FVII, FIX, FX, and proteins C, S und Z...
November 8, 2016: Hämostaseologie
https://www.readbyqxmd.com/read/27799968/evaluation-of-aryoseven-safety-recombinant-activated-factor-vii-in-patients-with-bleeding-disorders-an-observational-post-marketing-surveillance-study
#3
Gholamreza Toogeh, Hassan Abolghasemi, Peyman Eshghi, Mohammadreza Managhchi, Mohammadreza Shaverdi-Niasari, Katayoon Karimi, Samin Roostaei, Neda Emran, Alireza Abdollahi
BACKGROUND: Recombinant activated factor VII induces hemostasis in patients with coagulopathy disorders. AryoSeven™ as a safe Iranian Recombinant activated factor VII has been available on our market. This study was performed to establish the safety of AryoSeven on patients with coagulopathy disorder. METHODS: This single-center, descriptive, cross sectional study was carried out in Thrombus and Homeostasis Research Center ValiAsr Hospital during 2013-2014. Fifty one patients with bleeding disorders who received at least one dose of Aryoseven were enrolled...
2016: Iranian Journal of Pathology
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/27776919/ischemic-stroke-in-a-patient-with-moderate-to-severe-inherited-factor-vii-deficiency
#5
Manasa Reddy, Bernard Tawfik, Chakri Gavva, Sean Yates, Nicole De Simone, Sandra L Hofmann, Siayareh Rambally, Ravi Sarode
Thrombosis is known to occur in patients with rare inherited bleeding disorders, usually in the presence of a thrombotic risk factor such as surgery and/or factor replacement therapy, but sometimes spontaneously. We present the case of a 72-year-old African American male diagnosed with congenital factor VII (FVII) deficiency after presenting with ischemic stroke, presumably embolic, in the setting of atherosclerotic carotid artery stenosis. The patient had an international normalized ratio (INR) of 2.0 at presentation, with FVII activity of 6% and normal Extem clotting time in rotational thromboelastometry...
October 17, 2016: Transfusion and Apheresis Science
https://www.readbyqxmd.com/read/27747688/anticoagulation-therapy-considerations-in-factor-vii-deficiency
#6
Eric Paulus, Kathy Komperda, Gabriel Park, Julie Fusco
Factor VII (FVII) deficiency is the most prevalent rare bleeding disorder in the USA and affects approximately 1 out of every 500,000 people. Warfarin inhibits the synthesis of FVII, in addition to other clotting factors. Warfarin is contraindicated in patients with bleeding tendencies or blood dyscrasias; therefore, the literature regarding the use of warfarin in FVII deficiency is very limited. We report a successful re-challenge of warfarin therapy in a patient with FVII deficiency. A 70-year-old woman with FVII deficiency experienced a significant decrease in FVII activity and subsequent vaginal bleeding roughly 5 weeks after starting warfarin for atrial fibrillation...
December 2016: Drug Safety—Case Reports
https://www.readbyqxmd.com/read/27701084/factor-vii-deficiency-from-basics-to-clinical-laboratory-diagnosis-and-patient-management
#7
Pierre-Olivier Sevenet, Daniel A Kaczor, Francois Depasse
Factor VII (FVII) deficiency is a rare inheritable bleeding disorder affecting 1/500 000 individuals. Clinical manifestations are heterogeneous, from asymptomatic to severe and potentially fatal bleeding. These clinical manifestations do not correlate well with FVII plasma levels. For this reason, FVII-deficient patient management during surgery or for long-term prophylaxis remains challenging. Laboratory testing for FVII activity is, however, the first-line method for FVII deficiency diagnosis and is helpful for managing patients in combination with clinical history...
October 3, 2016: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/27586406/-hereditary-heterozygous-factor-vii-deficiency-in-patients-undergoing-surgery-clinical-relevance
#8
D Woehrle, M Martinez, D Bolliger
BACKGROUND: A hereditary deficiency in coagulation factor VII (FVII) may affect the international normalized ratio (INR) value. However, FVII deficiency is occasionally associated with a tendency to bleed spontaneously. We hypothesized that perioperative substitution with coagulation factor concentrates might not be indicated in most patients. METHODS: In this retrospective data analysis, we included all patients with hereditary heterozygous FVII deficiency who underwent surgical procedures at the University Hospital Basel between December 2010 and November 2015...
October 2016: Der Anaesthesist
https://www.readbyqxmd.com/read/27513915/differential-functional-readthrough-over-homozygous-nonsense-mutations-contributes-to-the-bleeding-phenotype-in-coagulation-factor-vii-deficiency
#9
Alessio Branchini, Mattia Ferrarese, Silvia Lombardi, Rosella Mari, Francesco Bernardi, Mirko Pinotti
BACKGROUND: Whereas the rare homozygous nonsense mutations causing factor VII (FVII) deficiency may predict null conditions that are virtually incompatible with life, they can be associated with both life as well as appreciable differences in hemorrhagic symptoms. The misrecognition of premature stop codons (readthrough) may account for variable levels of functional full-length proteins. OBJECTIVES: To experimentally evaluate the basal and drug-induced levels of FVII produced by the homozygous p...
August 11, 2016: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/27501477/inhibitor-development-after-liver-transplantation-in-congenital-factor-vii-deficiency
#10
W-S Q See, K-O Chang, D K-L Cheuk, Y-Y R Leung, G C-F Chan, S-C Chan, S-Y Ha
Congenital factor VII (FVII) deficiency is the commonest type of the rare bleeding disorders. Very few cases of congenital FVII deficiency developed inhibitor and liver transplant is considered as definitive treatment. In the literature, twelve patients with congenital FVII deficiency developed inhibitors. Two had spontaneous resolution of inhibitors and one did not respond to high dose recombinant factor VIIa (rFVIIa) and died. Regarding liver transplant in congenital FVII patients, seven patients underwent liver transplant with good prognosis...
September 2016: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/27405678/rare-coagulation-disorders-fibrinogen-factor-vii-and-factor-xiii
#11
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/27341548/an-engineered-tale-transcription-factor-rescues-transcription-of-factor-vii-impaired-by-promoter-mutations-and-enhances-its-endogenous-expression-in-hepatocytes
#12
Elena Barbon, Silvia Pignani, Alessio Branchini, Francesco Bernardi, Mirko Pinotti, Matteo Bovolenta
Tailored approaches to restore defective transcription responsible for severe diseases have been poorly explored. We tested transcription activator-like effectors fused to an activation domain (TALE-TFs) in a coagulation factor VII (FVII) deficiency model. In this model, the deficiency is caused by the -94C > G or -61T > G mutation, which abrogate the binding of Sp1 or HNF-4 transcription factors. Reporter assays in hepatoma HepG2 cells naturally expressing FVII identified a single TALE-TF (TF4) that, by targeting the region between mutations, specifically trans-activated both the variant (>100-fold) and wild-type (20-40-fold) F7 promoters...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27338009/women-with-congenital-factor-vii-deficiency-clinical-phenotype-and-treatment-options-from-two-international-studies
#13
M Napolitano, M N D Di Minno, A Batorova, A Dolce, M Giansily-Blaizot, J Ingerslev, J-F Schved, G Auerswald, G Kenet, M Karimi, T Shamsi, A Ruiz de Sáez, R Dolatkhah, A Chuansumrit, M A Bertrand, G Mariani
INTRODUCTION: A paucity of data exists on the incidence, diagnosis and treatment of bleeding in women with inherited factor VII (FVII) deficiency. AIM: Here we report results of a comprehensive analysis from two international registries of patients with inherited FVII deficiency, depicting the clinical picture of this disorder in women and describing any gender-related differences. METHODS: A comprehensive analysis of two fully compatible, international registries of patients with inherited FVII deficiency (International Registry of Factor VII deficiency, IRF7; Seven Treatment Evaluation Registry, STER) was performed...
September 2016: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/27264821/-mutation-analysis-and-prenatal-diagnosis-for-a-family-affected-with-congenital-factor-vii-deficiency
#14
Wei Peng, Shuxin Zhang, Xin Liu, Yanan Gu, Yan Wang
OBJECTIVE: To provide mutation analysis and prenatal diagnosis for a family affected with congenital factor VII(FVII) deficiency. METHODS: DNA was extracted from peripheral blood samples from the proband and his parents. All exons and flanking sequence of the FVII gene were amplified with PCR and subjected to direct sequencing. Prenatal diagnosis was performed by amniocentesis. RESULTS: A homozygous mutation (NM_000131.3) c.572-1G>A was identified in the proband...
June 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/27256579/establishing-a-rat-model-for-the-study-of-vitamin-k-deficiency
#15
Yanni Mi, Xue Xiao, Dongzheng Liu, Nana Ping, Yanbing Zhu, Bo Li, Lihui Long, Yongxiao Cao
The main vitamin K-deficient model, minidose warfarin, is different from the pathological mechanism of vitamin K deficiency, which is a shortage of vitamin K. The objective of this study was to establish a new method of vitamin K-deficient model combining a vitamin K-deficient diet with the intragastrical administration of gentamicin in rats. The clotting was assayed by an automated coagulation analyser. The plasma PIVKA-II was assayed by ELISA. The vitamin K status was detected by an HPLC-fluorescence system...
April 2016: International Journal of Experimental Pathology
https://www.readbyqxmd.com/read/27032741/management-of-labour-and-delivery-in-a-patient-with-acquired-factor-vii-deficiency-with-inhibitor-a-case-report
#16
Anca Matei, Sean Dolan, James Andrews, Georges-Étienne Rivard
BACKGROUND: Acquired factor VII (FVII) deficiency with inhibitor increases the risk of hemorrhage during pregnancy. However, there are no published reports guiding its management in the peripartum period. CASE: A 24-year-old woman with inhibitory antibodies to FVII delivered at 34 weeks of gestation. The patient was administered recombinant factor VIIa (rFVIIa) and tranexamic acid. There were no bleeding-related complications; however, the FVII level was supratherapeutic...
February 2016: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/26962982/isotypic-analysis-of-antibodies-against-activated-factor-vii-in-patients-with-factor-vii-deficiency-using-the-x-map-technology
#17
Caroline Pfeiffer, Eve Mathieu-Dupas, Pauline Logghe, Géraldine Lissalde-Lavigne, Julien Balicchi, Umran Caliskan, Thomas Valentin, Daniel Laune, Franck Molina, Jean François Schved, Muriel Giansily-Blaizot
While the immune response to hemophilic factors in hemophilia has been widely studied, little is known about the development of anti-Factor VII (FVII) antibodies in FVII deficiency. We developed a robust technique based on the x-MAP technology to detect the presence of antibodies against FVII and characterize their isotype and validated this method using blood samples from 100 patients with FVII deficiency (median FVII clotting activity [FVII:C]: 6%) and 95 healthy controls. Anti-FVII antibodies were detected in patients but also in some controls, although the concentration of total immunoglobulin G (IgGt) and IgG1 and IgG4 subclasses was significantly different between groups...
May 2016: Thrombosis Research
https://www.readbyqxmd.com/read/26872273/congenital-factor-xi-and-factor-vii-deficiencies-assure-an-apparent-opposite-protection-against-arterial-or-venous-thrombosis-an-intriguing-observation
#18
A Girolami, E Peroni, B Girolami, S Ferrari, A M Lombardi
OBJECTIVE: To investigate the prevalence and type of thrombotic events reported in patients with congenital factor XI (FXI) or factor VII (FVII) deficiency. PATIENTS AND METHODS: Data on all patients with congenital FXI or FVII deficiency and a thrombotic event were gathered by means of a time unlimited PubMed search carried out in June 2014 and in February 2015. Appropriate keywords including the medical subject headings were used in both instances. Side tables were also consulted and cross-checking of the references was carried out to avoid omissions...
September 2016: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/26857798/procoagulant-microparticles-promote-coagulation-in-a-factor-xi-dependent-manner-in-human-endotoxemia
#19
M J Mooberry, R Bradford, E L Hobl, F C Lin, B Jilma, N S Key
UNLABELLED: Essentials The procoagulant effects of microparticles (MPs) on coagulation in endotoxemia are not known. MPs from endotoxemia volunteers were evaluated for procoagulant activity in a plasma milieu. MPs from endotoxemia volunteers shortened clotting times and enhanced thrombin generation. MP procoagulant effects were mediated in a factor XI-dependent manner. SUMMARY: Background Human endotoxemia is characterized by acute inflammation and activation of coagulation, as well as increased numbers of circulating microparticles (MPs)...
May 2016: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/26852649/heterozygous-congenital-factor-vii-deficiency-with-the-9729del4-mutation-associated-with-severe-spontaneous-intracranial-bleeding-in-an-adolescent-male
#20
Thomas J Cramer, Kristin Anderson, Karanjia Navaz, Justin M Brown, Laurent O Mosnier, Annette von Drygalski
BACKGROUND: In congenital Factor (F) VII deficiency bleeding phenotype and intrinsic FVII activity levels don't always correlate. Patients with FVII activity levels <30% appear to have a higher bleeding propensity, but bleeding can also occur at higher FVII activity levels. Reasons for bleeding at higher FVII activity levels are unknown, and it remains challenging to manage such patients clinically. CASE: A 19year old male with spontaneous intracranial hemorrhage and FVII activity levels of 44%, requiring emergent surgical intervention and a strategy for FVII replacement...
March 2016: Blood Cells, Molecules & Diseases
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