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Fvii deficiency

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https://www.readbyqxmd.com/read/28302935/factor-x-deficiency-with-heterozygous-mutations-of-novel-p-g435s-and-known-p-g244r-in-a-patient-presenting-with-severe-umbilical-hemorrhage
#1
Yoko Matsuo, Tatsuki Mizuochi, Miho Mitsuo, Shinichiro Nakagawa, Shuichi Ozono, Koichiro Ueda, Yoko Sogabe, Ritsuko Seki, Kenji Soejima, Takashi Okamura, Yushiro Yamashita
A 10-day-old male patient was referred to our hospital with severe umbilical bleeding. Prothrombin time (PT) and activated partial thromboplastin time (APTT) were prominently prolonged. Plasma coagulation factor X (FX) activity and antigen levels were 1% and 0.6%, respectively. A DNA sequence analysis of his leukocytes revealed a compound heterozygous state; known Gly244 to Arg (p.G244R) in exon 6 and a novel mutation of Gly 435 to Ser (p.G435S) in exon 8. A pedigree analysis showed that p.G244R originated from the paternal side, while p...
March 15, 2017: Kurume Medical Journal
https://www.readbyqxmd.com/read/28263027/coagulation-factors-anticoagulant-proteins-and-plasminogen-in-mexican-older-adults
#2
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/28222949/rare-bleeding-disorders-old-diseases-in-the-era-of-novel-options-for-therapy
#3
Tami Livnat, Assaf Arie Barg, Sarina Levy-Mendelovich, Gili Kenet
Rare diseases are defined as life-threatening or chronically debilitating diseases with a prevalence of less than one per 2000 according to the European Union or one per 1250 according to the USA. Congenital rare bleeding disorders RBD are reported in most populations, with incidence varying from 1 in 5000 (Hemophilia A), 1:30,000 (Hemophilia B) to much rarer (1:500,000 for FVII deficiency, 1-3 million for Prothrombin or FXIII deficiency). Acquired Hemophilia A is also a rare bleeding disorder with estimated frequency of 1 in million...
February 14, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28176610/bleeding-manifestations-in-heterozygotes-with-congenital-fvii-deficiency-a-comparison-with-unaffected-family-members-during-a-long-observation-period
#4
Antonio Girolami, Elisabetta Cosi, Silvia Ferrari, Bruno Girolami, Anna Maria Lombardi
OBJECTIVES: To determine whether heterozygotes with FVII deficiency have a bleeding tendency or not. PATIENTS AND METHODS: Eighty-four patients (OK) heterozygous for FVII deficiency, at the onset of the study, were paired with unaffected family members and followed for a long period of time (mean 22.6 years) for the occurrence of bleeding. Diagnosis of heterozygosis had to be based on family studies, clotting, immunological assays and genetic analysis. RESULTS: The mean FVII activity level was 0...
February 8, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/28164683/diagnostic-error-of-a-patient-with-combined-inherited-factor-vii-and-factor-x-deficiency-due-to-accidental-ingestion-of-a-diphacinone-rodenticide
#5
Min Li, Yanhui Jin, Mingshan Wang, Yaosheng Xie, Hongxiang Ding
BACKGROUND: To explore the characteristics of laboratory examination and confirm the diagnosis of a patient with combined inherited FVII and FX deficiency after he ingested diphacinone rodenticide accidentally. METHODS: The coagulant parameter screening tests and coagulation factor activities were tested many times in the patient due to accidental ingestion of a diphacinone rodenticide. After the patient was treated for more than one year, gene analysis of correlated coagulation factors was analyzed in the patient and other family members by DNA direct sequencing...
November 1, 2016: Clinical Laboratory
https://www.readbyqxmd.com/read/28118558/hereditary-factor-vii-deficiency-in-the-asian-elephant-elephas-maximus-caused-by-a-f7-missense-mutation
#6
Michael Lynch, Ken McGrath, Karthik Raj, Philippa McLaren, Karen Payne, Richard McCoy, Urs Giger
Hereditary disorders and genetic predispositions to disease are rarely reported in captive and free-ranging wildlife, and none have been definitively identified and characterized in elephants. A wild-caught, 41-yr-old male Asian elephant ( Elephas maximus ) without an apparent increased bleeding tendency was consistently found to have prolonged prothrombin times (PTs, mean = 55±35 s) compared to 17 other elephants (PT=10±2 s). This elephant's partial thromboplastin times (PTT) fell within the normal range of the other elephants (12-30 s)...
January 24, 2017: Journal of Wildlife Diseases
https://www.readbyqxmd.com/read/28038846/primary-prophylaxis-for-children-with-severe-congenital-factor-vii-deficiency-clinical-and-laboratory-assessment
#7
A A Kuperman, A A Barg, Y Fruchtman, E Shaoul, N Rosenberg, G Kenet, T Livnat
Severe congenital factor VII (FVII) deficiency is a rare bleeding disorder. Prophylaxis with replacement therapy has been suggested to patients, yet the most beneficial dosing regimens and therapy intervals are still to be defined. Due to the lack of evidence-based data, we hereby present our experience with long-term administration and monitoring primary prophylaxis in children with severe FVII deficiency and an extremely high bleeding risk. Four children with familial FVII deficiency, treated by prophylactic recombinant activated factor VII (rFVIIa), 15-30μg/kg/dose, given 2-3 times weekly since infancy, are discussed...
December 19, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28034354/recombinant-activated-factor-vii-eptacog-alfa-activated-novoseven-%C3%A2-in-patients-with-rare-congenital-bleeding-disorders-a-systematic-review-on-its-use-in-surgical-procedures
#8
Matteo Nicola Dario Di Minno, Pasquale Ambrosino, Veronika A Myasoedova, Manuela Amato, Itala Ventre, Elena Tremoli, Alessandro Di Minno
In the absence of definite guidelines in the area, we have carried a systemic review to provide a thorough overview concerning the efficacy and safety of recombinant activated factor VII (rFVIIa, NovoSeven®, Novo Nordisk A/S, Bagsværd, Denmark) in patients with Glanzmann's thrombasthenia (GT) and FVII deficiency, undergoing surgical procedures. PubMed, Web of Science, Scopus and EMBASE databases was employed for the search. Three multicenter registries were identified: the Glanzmann's Thrombasthenia Registry (GTR), the Seven Treatment Evaluation Registry (STER), and a German post-marketing surveillance registry (the WIRK study)...
December 30, 2016: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/27913544/treatment-of-rare-factor-deficiencies-in-2016
#9
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
#10
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
#11
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
#12
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
#13
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...
December 2016: Transfusion and Apheresis Science
https://www.readbyqxmd.com/read/27747688/anticoagulation-therapy-considerations-in-factor-vii-deficiency
#14
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
#15
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...
January 1, 2016: Clinical and Applied Thrombosis/hemostasis
https://www.readbyqxmd.com/read/27586406/-hereditary-heterozygous-factor-vii-deficiency-in-patients-undergoing-surgery-clinical-relevance
#16
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
#17
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
#18
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
#19
REVIEW
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
#20
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...
June 24, 2016: Scientific Reports
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