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https://www.readbyqxmd.com/read/29765293/recurrent-bleedings-in-newborn-a-factor-vii-deficiency-case-report
#1
Kim Cattivelli, Cristina Distefano, Lorenza Bonetti, Sophie Testa, Simona Maria Siboni, Alessandro Plebani, Carlo Poggiani
Background: Major hemorrhages in newborns can be caused by several conditions, and knowledge of the differential diagnosis is essential in order to ensure prompt recognition and appropriate treatment. Case Report: We describe the case of a male newborn experiencing recurrent hemorrhages from the first days of life. Laboratory findings showed normal platelet count, hepatic function, and C-reactive protein. Coagulation tests detected an isolated prothrombin time (PT) prolongation and severe factor VII (FVII) deficiency...
April 2018: Transfusion Medicine and Hemotherapy
https://www.readbyqxmd.com/read/29737537/genetic-polymorphisms-in-the-fvii-gene-is-associated-with-lower-extremity-deep-venous-thrombosis-a-case-control-study
#2
Jian-Wei Liu, Dong-Qiong Chen
This study aims to explore the associations between FVII gene polymorphisms (R353Q, 5'F7, and -402G/A) and lower extremity deep venous thrombosis (LEDVT) in a Chinese Han population. LEDVT patients (153) and healthy people (174) were, respectively, as case and control groups and evaluated related biochemical indicators. Gene polymorphisms of R353Q, 5'F7, and -402G/A of FVII, serum FVII level, antithrombin activity, plasma fibrinogen content, and plasma D-dimer (D-D) level were determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), ELISA, chromogenic substrate assay, coagulating assay, and Immunoturbidimetry assay, respectively...
May 8, 2018: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/29665924/-analysis-of-phenotype-and-l12r-mutation-in-signal-peptide-and-3-non-translation-region-c11814-insaa-mutation-of-f7-gene-in-a-family-with-hereditary-coagulation-factor-vii-deficiency
#3
Shan Liu, Jing-Yu Zhang, Zheng-Rong Li, Yan Wang, Zhi-Yun Niu, Feng-Ru Lin
OBJECTIVE: To examine one young female patient with hereditary FVII deficiency and her family members, to observe the gene mutation and clinical phenotype, and to investigate the molecular mechanism of the dysfunction. METHODS: Prothrombin time (PT), activated partial thromoploastin time (APTT), fibrinogen (Fg) and FVII activity (FVII:C) and FVII antigen (FVII:Ag) were tested. The gene mutations were sought by DNA sequencing for all of the exons and flanks, 5' and 3' non-translation region of F7 gene...
April 2018: Zhongguo Shi Yan Xue Ye Xue za Zhi
https://www.readbyqxmd.com/read/29626988/thrombin-generation-test-a-reliable-tool-to-evaluate-the-pharmacodynamics-of-vitamin-k-antagonist-rodenticides-in-rats
#4
Jourdi Georges, Lefèbvre Sebastien, Le Bonniec Bernard, Curis Emmanuel, Gaussem Pascale, Lattard Virginie, Siguret Virginie
Vitamin K antagonist rodenticide pharmacodynamics (PD) is studied in rodents with traditional laboratory tests. We wondered if thrombin generation test (TGT) could add value. Difethialone (10 mg/kg) was administered per os to 97 OFA-Sprague Dawley rats. PD was studied over a 72 h-period using the Calibrated Automated Thrombogram on platelet poor plasma before and after intoxication (3 female and 3 male rats for each 13 time points) and TGT parameters were compared with the prothrombin time (PT) and vitamin K dependent factor activities previously reported...
April 2018: Pesticide Biochemistry and Physiology
https://www.readbyqxmd.com/read/29618153/activation-of-endoplasmic-reticulum-stress-and-unfolded-protein-response-in-congenital-factor-vii-deficiency
#5
Elisabeth Andersen, Maria Eugenia Chollet, Christiane Filion Myklebust, Mirko Pinotti, Francesco Bernardi, Ampaiwan Chuansumrit, Ellen Skarpen, Per Morten Sandset, Grethe Skretting
Congenital factor (F) VII deficiency is a bleeding disorder caused by a heterogeneous pattern of mutations in the F7 gene. Protein misfolding due to mutations is a strong candidate mechanism to produce the highly represented type I FVII deficiency forms, characterized by a concomitant deficiency of FVII antigen and activity. Misfolded proteins can accumulate within the endoplasmic reticulum (ER) causing ER stress with subsequent activation of the unfolded protein response (UPR). So far, there are limited data on this important issue in FVII deficiency...
April 2018: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/29611182/factor-f-viii-viia-enhances-global-haemostatic-function-in-the-co-presence-of-bypassing-agents-and-fviii-among-patients-with-haemophilia-a-with-inhibitor
#6
Keiji Nogami, Tomoko Matsumoto, Koji Yada, Kenichi Ogiwara, Shoko Furukawa, Yasuaki Shida, Masahiro Takeyama, Midori Shima
Bypassing therapy is essential for the haemostatic management of patients with haemophilia A with inhibitor (PWHA-inh), but the therapeutic effects are inconsistent. We previously reported that activated prothrombin complex concentrates (aPCC) activated factor (F)VIIIin vitro, and was mediated mainly by the activated FVII (FVIIa) contained in aPCC. We have extended those studies to assess global coagulation in whole blood from 18 PWHA-inh in the co-presence of aPCC and FVIII using Ca2+ -triggered rotational thromboelastometry...
April 2, 2018: British Journal of Haematology
https://www.readbyqxmd.com/read/29537116/in-vitro-characterization-of-mod-5014-a-novel-long-acting-carboxy-terminal-peptide-ctp-modified-activated-fvii
#7
A Bar-Ilan, T Livnat, M Hoffmann, L Binder, M Zakar, R Guy, Y Felikman, L Moschcovich, B Shenkman, D Monroe, O Hershkovitz, G Kenet, G Hart
INTRODUCTION: Recombinant FVIIa (rFVIIa) is an effective treatment for haemophilia through frequent administration. However, the short half-life of rFVIIa decreases its prophylactic ability to reduce bleeding. Carboxy-terminal peptide (CTP)-modified FVIIa (MOD-5014) is a long-acting rFVIIa developed for on-demand treatment of haemophilia using either an intravenous or subcutaneous injection with the aim of less frequent administrations, as well as for prophylactic use. AIM: The comprehensive evaluation of the activity MOD-5014 vs commercially available rhFVIIa, as well as their interaction with cofactors and inhibitors...
March 14, 2018: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/29476647/prenatal-diagnosis-in-rare-bleeding-disorders-an-unresolved-issue
#8
REVIEW
S Tabibian, M Shams, M Naderi, A Dorgalaleh
Intracranial haemorrhage (ICH) is the most dreadful complication, and the main cause of death among patients with rare bleeding disorders (RBD) and prenatal diagnosis (PND) is a preventative lifesaving program. A total of 39 PNDs were reported in the literature through a search on PubMed, EMBASE, SCOPUS and Web of Science databases, most often for congenital factor (F) XIII and FVII deficiencies and rarely in FX, FV deficiencies and afibrinogenemia. The main cause to request a PND is ICH and related morbidity and mortality...
February 24, 2018: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/29464022/anticoagulants-inhibit-proteolytic-clearance-of-plasma-amyloid-beta
#9
Lu Yang, Arup Bhattacharya, Yun Li, Yuesheng Zhang
We recently discovered a plasma proteolysis pathway, termed the FXII-FVII pathway which is composed of coagulation proteases, and found it to be mainly responsible for the clearance of Aβ42 in the plasma in mice. Aβ42 and Aβ40 are the main Aβ forms in Alzheimer's disease (AD). In the present study, in vitro assays, wild type (WT) mice and J20 mice (a transgenic AD model) are used to assess the degradation of Aβ40 and Aβ42 by the FXII-FVII pathway and the impact of anticoagulants on such degradation. Four clinically available and mechanistically distinct anticoagulants are evaluated, including dabigatran, enoxaparin (EP), rivaroxaban and warfarin...
January 19, 2018: Oncotarget
https://www.readbyqxmd.com/read/29437578/tissue-factor-an-essential-mediator-of-hemostasis-and-trigger-of-thrombosis
#10
REVIEW
Steven P Grover, Nigel Mackman
Tissue factor (TF) is the high-affinity receptor and cofactor for factor (F)VII/VIIa. The TF-FVIIa complex is the primary initiator of blood coagulation and plays an essential role in hemostasis. TF is expressed on perivascular cells and epithelial cells at organ and body surfaces where it forms a hemostatic barrier. TF also provides additional hemostatic protection to vital organs, such as the brain, lung, and heart. Under pathological conditions, TF can trigger both arterial and venous thrombosis. For instance, atherosclerotic plaques contain high levels of TF on macrophage foam cells and microvesicles that drives thrombus formation after plaque rupture...
April 2018: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/29418058/evolutionary-conservation-of-the-allosteric-activation-of-factor-viia-by-tissue-factor-in-lamprey
#11
D L Beeler, W C Aird, M A Grant
Essentials Tissue factor (TF) enhances factor VIIa (FVIIa) activity through structural and dynamic changes. We analyzed conservation of TF-activated FVIIa allosteric networks in extant vertebrate lamprey. Lamprey Tf/FVIIa molecular dynamics show conserved Tf-induced structural/dynamic FVIIa changes. Lamprey Tf activation of FVIIa allosteric networks follows molecular pathways similar to human. SUMMARY: Background Previous studies have provided insight into the molecular basis of human tissue factor (TF) activation of activated factor VII (FVIIa)...
April 2018: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/29406387/in-silico-thrombin-and-factor-xa-generation-profiles-in-adult-patients-after-fontan-operation
#12
Matthew Gissel, Lidia Tomkiewicz-Pajak, Piotr Podolec, Piotr Hoffman, Olga Trojnarska, Magdalena Lipczyńska, Anetta Undas, Kathleen E Brummel-Ziedins
: Single-ventricle defects are associated with increased risk of thromboembolic events. To analyze the prothrombotic potential in a long-term follow-up on Fontan patients via plasma contribution to thrombin and factor (F)Xa generation profiles. Thrombin and FXa generation was simulated from plasma concentrations of FII, FV, FVII, FVIII, FIX, FX, antithrombin and tissue factor (TF) pathway inhibitor from Fontan patients (n = 48) and healthy controls (n = 34). TF and thrombin-antithrombin complex (TAT) were measured by ELISA...
March 2018: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/29405578/pre-analytical-stability-of-coagulation-parameters-in-plasma-stored-at-room-temperature
#13
E A Linskens, K M J Devreese
INTRODUCTION: Haemostasis testing is influenced by many pre-analytical variables, such as storage time and temperature, which can affect the stability of coagulation factors and influence the results of coagulation assays. We investigated the stability of haemostasis tests after storage of aliquoted plasma at RT, including the variability of measurement principle and reagent used for determination. METHODS: Blood samples from 20 healthy volunteers were obtained, processed to PPP and aliquoted...
February 5, 2018: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/29395816/a-comparative-study-of-point-of-care-prothrombin-time-in-cardiopulmonary-bypass-surgery
#14
Shihoko Okabayashi, Satoru Ogawa, Kenichi A Tanaka, Takashi Nishiyama, Shusuke Takeshita, Yoshinobu Nakayama, Yasufumi Nakajima, Teiji Sawa, Toshiki Mizobe
OBJECTIVE: Point-of-care (POC) devices allow for prothrombin time/international normalized ratio (PT/INR) testing in whole blood (WB) and timely administration of plasma or prothrombin complex concentrate during cardiopulmonary bypass surgery. This study evaluated the sensitivities of a new POC PT test, a dry-hematology method with heparin neutralization technology (DRIHEMATO PT-S [DRI PT-S]; A&T Corporation, Kanagawa, Japan), and compared it with other POC tests currently available...
December 29, 2017: Journal of Cardiothoracic and Vascular Anesthesia
https://www.readbyqxmd.com/read/29394348/rosuvastatin-use-improves-measures-of-coagulation-in-patients-with-venous-thrombosis
#15
Joseph S Biedermann, Marieke J H A Kruip, Felix J van der Meer, Frits R Rosendaal, Frank W G Leebeek, Suzanne C Cannegieter, Willem M Lijfering
Aims: Observational studies indicate that statins reduce the risk of recurrent venous thrombosis (VT). However, trials have not been performed and the mechanism is unknown. We aimed to determine whether statin therapy improves the coagulation profile in patients with prior VT. Methods and results: Randomized clinical trial (NCT01613794). Patients were randomized to rosuvastatin 20 mg/day for 4 weeks or no intervention. Blood was drawn at baseline and at end of study...
January 30, 2018: European Heart Journal
https://www.readbyqxmd.com/read/29368589/expanded-carrier-screening-and-preimplantation-genetic-diagnosis-in-a-couple-who-delivered-a-baby-affected-with-congenital-factor-vii-deficiency
#16
Wen-Bin He, Yue-Qiu Tan, Xiao Hu, Wen Li, Bo Xiong, Ke-Li Luo, Fei Gong, Guang-Xiu Lu, Ge Lin, Juan Du
BACKGROUND: Preimplantation genetic diagnosis (PGD) is a powerful tool for preventing the transmission of Mendelian disorders from generation to generation. However, PGD only can identify monogenically inherited diseases, but not other potential monogenic pathologies. We aimed to use PGD to deliver a healthy baby without congenital FVII deficiency or other common Mendelian diseases in a couple in which both individuals carried a deleterious mutation in the F7 gene. METHODS: After both members of the couple were confirmed to be carriers of the F7 gene mutation by Sanger sequencing, expanded carrier screening (ECS) for 623 recessive inheritance diseases was performed to detect pathological mutations in other genes...
January 24, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29251640/a-novel-factor-x-mutation-cys81-by-arg-and-a-reported-factor-vii-polymorphism-arg353-replaced-by-gln-co-occured-in-a-patient
#17
Yanhui Jin, Xiaoli Cheng, Jiayong Zheng, Hong Xia, Lihong Yang, Mingshan Wang
: Coagulation factor X and factor VII (FVII) are both very important components in blood coagulation. To study the molecular pathogenic mechanism of the inherited factor X and FVII deficiency, the factor X activity (FX:C) and FVII activity were tested with one-stage clotting methods. The factor X antigen and factor FVII antigen were tested with ELISA. All the exons, intron-exon boundaries and 5',3'-flanking regions of F10 and F7 genes were amplified by PCR with direct sequencing. The ClustalX software was used to analyze the conservative property of the mutation sites...
January 2018: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
https://www.readbyqxmd.com/read/29246447/factor-vii-deficiency-unveiling-the-cellular-and-molecular-mechanisms-underlying-three-model-alterations-of-the-enzyme-catalytic-domain
#18
Maria Eugenia Chollet, Elisabeth Andersen, Ellen Skarpen, Christiane F Myklebust, Christian Koehler, Jens Preben Morth, Ampaiwan Chuansumrit, Mirko Pinotti, Francesco Bernardi, Bernd Thiede, Per Morten Sandset, Grethe Skretting
Activated factor (F) VII is a vitamin K-dependent glycoprotein that initiates blood coagulation upon interaction with tissue factor. FVII deficiency is the most common of the rare congenital bleeding disorders. While the mutational pattern has been extensively characterized, the pathogenic molecular mechanisms of mutations, particularly at the intracellular level, have been poorly defined. Here, we aimed at elucidating the mechanisms underlying altered FVII biosynthesis in the presence of three mutation types in the catalytic domain: a missense change, a microdeletion and a frameshift/elongation, associated with severe or moderate to severe phenotypes...
March 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29246306/factor-vii-induced-microrna-135a-inhibits-autophagy-and-is-associated-with-poor-prognosis-in-hepatocellular-carcinoma
#19
Kuang-Tzu Huang, I-Ying Kuo, Ming-Chao Tsai, Chun-Hsien Wu, Li-Wen Hsu, Li-Yu Chen, Chao-Pin Kung, Yu-Fan Cheng, Shigeru Goto, Yu-Wei Chou, Chao-Long Chen, Chih-Che Lin, Kuang-Den Chen
Hepatocellular carcinoma (HCC) is one of the most common and aggressive malignancies worldwide. Treatment outcomes remain poor mainly due to lack of good diagnostic/prognostic markers and limited therapeutic strategies. We previously characterized aberrant activation of the TF/FVII/PAR2 pathway, which subsequently results in decreased autophagy, as a crucial event in malignant progression of HCC. Here, we identified miR-135a as a highly upregulated miRNA in HCC in response to TF/FVII/PAR2 activation. Analyzing 103 HCC patient specimens, we confirmed that miR-135a was frequently elevated in HCC tissues with higher FVII expression compared to adjacent non-cancerous counterparts...
December 15, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/29235093/role-of-clinical-and-laboratory-parameters-for-treatment-choice-in-patients-with-inherited-fvii-deficiency-undergoing-surgical-procedures-evidence-from-the-ster-registry
#20
Matteo N D Di Minno, Mariasanta Napolitano, Alberto Dolce, Guglielmo Mariani
Perioperative bleeding is a major concern in patients with factor VII (FVII) deficiency. Evaluating data of 95 FVII-deficient patients undergoing 110 surgical procedures (61 major, 49 minor), we assessed the impact of type of surgery, bleeding phenotype and FVII coagulant activity (FVII:C) levels on perioperative replacement therapy (RT). Compared to those with higher FVII:C levels, patients with <3% FVII:C received a higher number of RT doses (8 vs. 2, P = 0·003) for a longer RT duration (3 days vs...
February 2018: British Journal of Haematology
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