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Fvii deficiency

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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
#1
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...
December 12, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/29207137/in%C3%A2-vitro-expression-of-mutant-factor-vii-proteins-and-characterization-of-their-clinical-significance
#2
Amir Mashayekhi, Shirin Shahbazi, Mirdavood Omrani, Reza Mahdian
Factor VII (FVII) serves an essential role in the initiation of blood coagulation. Mutations in conserved residues within its serine protease domain may lead to dysregulated coagulation activity. The objective of the present study was to elucidate the impact of altering two conserved residues, H348R and S282R, on the functional properties of the FVII protein. The mutation‑harboring fragments were derived from genomic DNA of a FVII deficient patient. The fragments were integrated into a pcDNA vector containing FVII cDNA of HepG2 cells...
November 27, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29126301/coagulation-testing-in-the-core-laboratory
#3
William E Winter, Sherri D Flax, Neil S Harris
Primary hemostasis begins with endothelial injury. VWF, produced by endothelial cells, binds to platelets and links them to subendothelial collagen. Platelet-derived ADP and thromboxane activate non-adhered platelets via their GPIIb/IIIa receptors, allowing these platelets to participate in platelet aggregation. Secondary hemostasis is initiated with the binding of factor VII to extravascular tissue factor (TF). Factors II, VII, IX and X are vitamin K-dependent factors. The role of vitamin K is to assist in the addition of gamma carboxylate groups to glutamic acids in the "GLA" domains of these factors...
November 8, 2017: Laboratory Medicine
https://www.readbyqxmd.com/read/29102389/coronary-artery-stenosis-treatment-in-aging-patients-with-inherited-factor-vii-deficiency-where-do-we-stand
#4
Mariasanta Napolitano, Sergio Siragusa
Aging with rare bleeding disorders such as factor VII (FVII) deficiency poses several challenges to treatment because of the occurrence of cerebral and cardiovascular age-related comorbidities and high bleeding risks. We report a case of long-term treatment with antiplatelet agents and contemporary prophylaxis of bleeding in a woman affected by severe FVII deficiency diagnosed with symptomatic coronary artery stenosis. Information on the management of antithrombotic treatment in rare bleeding disorders is lacking and mainly limited to anecdotal reports or side effects secondary to replacement therapy...
November 1, 2017: Transfusion and Apheresis Science
https://www.readbyqxmd.com/read/29035661/outcome-of-laparoscopic-ovariohysterectomy-or-ovariectomy-in-dogs-with-von-willebrand-disease-or-factor-vii-deficiency-20-cases-2012-2014
#5
Thomas P Keeshen, J Brad Case, Jeffrey J Runge, Ameet Singh, Philipp D Mayhew, Michele A Steffey, William T N Culp
OBJECTIVE To describe surgical techniques and perioperative management of dogs with von Willebrand disease (VWD) or factor VII (FVII) deficiency undergoing laparoscopic ovariohysterectomy or ovariectomy and evaluate outcomes. DESIGN Retrospective case series. ANIMALS 20 client-owned dogs with VWD (n = 16) or FVII deficiency (4). PROCEDURES Dogs with VWD or FVII deficiency that underwent laparoscopic ovariohysterectomy or ovariectomy between 2012 and 2014 were retrospectively identified via a multi-institutional review of medical records...
November 1, 2017: Journal of the American Veterinary Medical Association
https://www.readbyqxmd.com/read/28969734/cerebral-venous-sinus-thrombosis-in-a-patient-with-undiagnosed-factor-vii-deficiency
#6
Hira Qadir, Anila Rashid, Salman Naseem Adil
Factor VII (FVII) deficiency is one of the rare inherited bleeding disorders. Thrombosis has been occasionally described in inherited FVII deficiency. Here, we report a young female with undiagnosed FVII deficiency who presented with cerebral venous sinus thrombosis (CVST). Oral contraceptive pill was found to be prothrombotic risk factor. The CVSToccurred in spite of the congenital FVII deficiency indicating that no definitive antithrombotic protection is assured by this defect. Low molecular weight heparin and anti-Xa assay were found to be safe choice of anticoagulation and monitoring, respectively, in this patient...
September 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28969316/perioperative-management-of-rare-coagulation-factor-deficiency-states-in-cardiac-surgery
#7
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
https://www.readbyqxmd.com/read/28684918/genotype-and-phenotype-correlation-in-intracranial-hemorrhage-in-neonatal-factor-vii-deficiency-among-thai-children
#8
Chanchai Traivaree, Chalinee Monsereenusorn, Arunotai Meekaewkunchorn, Premsak Laoyookhong, Saranya Suwansingh, Boonchai Boonyawat
Congenital factor VII (FVII) deficiency is a rare inherited coagulopathy. The clinical manifestations and clinical findings vary widely, ranging from asymptomatic to life-threatening bleeding, including intracranial hemorrhage (ICH), with prolonged prothrombin time, normal partial thromboplastin time and normal platelet counts, which are confirmed by the low level of FVII assay. Treatment consists of fresh frozen plasma (FFP), prothrombin complex concentrates (PCCs), and recombinant activated FVII to treat bleeding and prophylactic therapy...
2017: Application of Clinical Genetics
https://www.readbyqxmd.com/read/28496540/recombinant-factor-viia-use-for-endoscopic-retrograde-cholangiopancreatography-with-sphincterotomy-in-a-patient-with-choledocholithiasis-and-unusual-coagulopathy
#9
Molham Abdulsamad, Pavithra Reddy, Suvarna Guvvala, Anil Dev
Endoscopic retrograde cholangiopancreatography (ERCP) is a procedure that combines the use of endoscopy and fluoroscopy to diagnose and treat pancreaticobiliary disorders. The risks of ERCP include pancreatitis, infection, bleeding and perforation. Bleeding during ERCP typically develops after sphincterotomy, hence patients should be screened and tested for coagulopathy before undergoing ERCP. Coagulopathy is a major risk factor for ERCP-related bleeding. Inherited factor VII (FVII) deficiency is a rare autosomal recessive hemorrhagic disorder that can lead to significant coagulopathy and severe bleeding if not appropriately recognized and treated preoperatively...
April 2017: Gastroenterology Research
https://www.readbyqxmd.com/read/28462681/warfarin-management-in-the-setting-of-fvii-deficiency-and-mechanical-circulatory-support
#10
Christin DeStefano, Katelyn Sylvester, Jean Connors, Farooq Sheikh, Joseph Catlett
No abstract text is available yet for this article.
April 1, 2017: Vascular Medicine
https://www.readbyqxmd.com/read/28447100/f7-gene-variants-modulate-protein-levels-in-a-large-cohort-of-patients-with-factor-vii-deficiency-results-from-a-genotype-phenotype-study
#11
Gabriele Quintavalle, Federica Riccardi, Gianna Franca Rivolta, Davide Martorana, Caterina Di Perna, Antonio Percesepe, Annarita Tagliaferri
Congenital factor VII (FVII) deficiency is a rare bleeding disorder caused by mutations in F7 gene with autosomal recessive inheritance. A clinical heterogeneity with poor correlation with FVII:C levels has been described. It was the objective of this study to identify genetic defects and to evaluate their relationships with phenotype in a large cohort of patients with FVII:C<50 %. One hundred twenty-three probands were genotyped for F7 mutations and three polymorphic variants and classified according to recently published clinical scores...
August 1, 2017: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/28409836/platelet-derived-microparticles-regulates-thrombin-generation-via-phophatidylserine-in-abdominal-sepsis
#12
Yongzhi Wang, Su Zhang, Lingtao Luo, Eva Norström, Oscar Ö Braun, Matthias Mörgelin, Henrik Thorlacius
Sepsis is associated with dysfunctional coagulation. Recent data suggest that platelets play a role in sepsis by promoting neutrophil accumulation. Herein, we show that cecal ligation and puncture (CLP) triggered systemic inflammation, which is characterized by formation of IL-6 and CXC chemokines as well as neutrophil accumulation in the lung. Platelet depletion decreased neutrophil accumulation, IL-6, and CXC chemokines formation in septic lungs. Depletion of platelets increased peak thrombin formation and total thrombin generation (TG) in plasma from septic animals...
April 14, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28407450/finding-the-optimal-dose-of-vitamin-k1-to-treat-vitamin-k-deficiency-and-to-avoid-anaphylactoid-reactions
#13
Yan-Ni Mi, Na-Na Ping, Bo Li, Xue Xiao, Yan-Bing Zhu, Lei Cao, Jian-Kang Ren, Yong-Xiao Cao
Vitamin K1 injection induces severe dose-related anaphylactoid reactions and overdose for the treatment of vitamin K deficiency. We aimed to find an optimal and small dose of vitamin K1 injection to treat vitamin K deficiency and avoid anaphylactoid reactions in animal. Rats were administered a vitamin K-deficient diet and gentamicin to establish vitamin K deficiency model. Behaviour tests were performed in beagle dogs to observe anaphylactoid reactions. The results showed an increased protein induced by vitamin K absence or antagonist II (PIVKA-II) levels, a prolonging of prothrombin time (PT) and activated partial thromboplastin time (APTT) and a decrease in vitamin K-dependent coagulation factor (F) II, VII, IX and X activities in the model group...
October 2017: Fundamental & Clinical Pharmacology
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
#14
Yoko Matsuo, Tatsuki Mizuochi, Mitsuo Miho, 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...
April 13, 2017: Kurume Medical Journal
https://www.readbyqxmd.com/read/28263027/coagulation-factors-anticoagulant-proteins-and-plasminogen-in-mexican-older-adults
#15
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
#16
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
#17
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...
July 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
#18
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
#19
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)...
April 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
#20
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
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