Afibrinogenemia (Fibrinogen Deficiency)

09/01/2011 - "This review of published studies was conducted to derive data on patients with congenital fibrinogen deficiency (CFD), including dosing of fibrinogen replacement therapy, outcome, and adverse events, either temporally related or distant to fibrinogen replacement, in order to assist clinicians in developing treatment plans for patients with CFD. "
12/01/2009 - "To explore this further, we conducted a prospective, open-label, uncontrolled, multinational pharmacokinetic trial of pasteurized human fibrinogen concentrate in 15 patients with afibrinogenemia. "
12/01/2009 - "Although fibrinogen concentrate has been available for the treatment of congenital fibrinogen deficiency for years, knowledge of its pharmacokinetics comes from only two small studies. "
08/01/1953 - "Studies on the metabolism of fibrinogen in two patients with congenital afibrinogenemia."
09/01/2015 - "Congenital afibrinogenemia/hypofibrinogenemia is a rare inherited hematologic disorder in which a patient lacks or has insufficient level of fibrinogen, the blood coagulation factor I. The incidence of this uncommon disease is 1 to 2 per 1 million individuals. "

07/01/2006 - "This technology could be considered for the improved viral safety of cryoprecipitate which is used to treat haemophilia A, von Willebrand disease or fibrinogen deficiency, or to prepare fibrin sealant."
07/01/2006 - "Single-donor or small-pool cryoprecipitates are produced by blood establishments, mostly in developing countries, for substitute therapy in haemophilia A, von Willebrand disease and fibrinogen deficiency, as well as for the manufacture of fibrin sealant. "

12/01/2007 - "Fibrinogen deficiency dramatically reduced the survival of mice with Hb SAD to a much greater degree than mice with normal hemoglobin. "

12/01/2007 - "The combination of Hb SAD and fibrinogen deficiency had a greater effect on mortality than that obtained by adding the mortality risks of each defect alone. "
12/01/2007 - "The deleterious effect of the combination of Hb SAD and fibrinogen deficiency on mortality was accelerated by hypoxia. "
12/01/2007 - "Fibrinogen deficiency dramatically reduced the survival of mice with Hb SAD to a much greater degree than mice with normal hemoglobin. "

04/01/1951 - "Prothrombin and fibrinogen deficiency in newborn pups and lambs."
01/01/1986 - "Blood coagulation studies carried out on 78 patients up to 30 h after they were bitten by Bothrops jararaca snakes demonstrated clotting defects in 37 patients which included afibrinogenemia, reduced levels of prothrombin, of factors V and VIII, thrombocytopenia and activation of the fibrinolytic system. "
01/01/1987 - "A study of 93 patients with liver cirrhosis showed that the most important blood coagulation disorder in this pathology resulting in hypocoagulation, was not decreased synthesis and deficit of the prothrombin complex factors but disturbance of the final stage determined by afibrinogenemia. "
04/01/2011 - "The factor deficiencies covered are inherited abnormalities of fibrinogen; deficiencies of prothrombin, factor (F)V, FVII, FX, FXI, FXIII; combined deficiencies of FV and FVIII; and the inherited deficiency of vitamin K-dependent clotting factors. "
05/01/1994 - "We describe a patient with congenital afibrinogenemia who showed elevated prothrombin activation fragments (F1 + 2) indicating increased thrombin formation. "

12/01/2004 - "In this study, we report the identification of a novel nonsense mutation (Arg134Xaa) in the FGG gene responsible for congenital afibrinogenemia in 10 patients from Lebanon. "
12/15/2003 - "In this study, a young boy with afibrinogenemia was found to be a compound heterozygote for 2 mutations in FGB: an N-terminal nonsense mutation W47X (exon 2) and a missense mutation (G444S, exon 8). "
03/01/2010 - "Identification and functional characterization of a novel nonsense mutation in FGA accounting for congenital afibrinogenemia in six Egyptian patients."
04/01/2008 - "Afibrinogenemia resulting from homozygous nonsense mutation in A alpha chain gene associated with multiple thrombotic episodes."
03/01/2005 - "The Gln (CAG)-->150stop (TAG) nonsense mutation in FGA gene is a novel genetic defect of congenital afibrinogenemia which, to our knowledge, has not been described before."

03/01/2003 - "Because it was impossible to directly study the effect of these mutations on mRNA splicing in patient hepatocytes, we used a transfected cell approach, which previously allowed us to show that the common IVS4 mutation causes afibrinogenemia due to the activation of multiple cryptic donor splice sites. "
03/15/2001 - "Our results confirm the utility of transfecting COS-7 cells to study mRNA splice-site mutations and demonstrate that the common FGA IVS4 variant is a null mutation leading to afibrinogenemia."
02/01/2009 - "A deep intronic mutation in FGB creates a consensus exonic splicing enhancer motif that results in afibrinogenemia caused by aberrant mRNA splicing, which can be corrected in vitro with antisense oligonucleotide treatment."
03/15/2001 - "COS-7 cells transfected with a normal plasmid construct produced 100% mRNA molecules with correct splicing, whereas cells transfected with a mutant construct produced multiple aberrant mRNAs, due to utilization of cryptic donor splice sites situated in exon 4 and intron 4. One particular site situated 4 base pairs (bp) downstream of the normal site was used in 85% of transcripts causing afibrinogenemia by a 4-bp insertion-frameshift, leading to premature alpha-chain truncation. "

11/01/2001 - "Studies in plasminogen-deficient mice (PG(-/-)) indicated that skin wound healing is impaired, but is resolved with an additional fibrinogen deficiency. "
12/01/2007 - "Fibrinogen deficiency, but not plasminogen deficiency, increases mortality synergistically in combination with sickle hemoglobin SAD in transgenic mice."
11/01/2012 - "The connection between plasmin-dependent fibrinolysis, vascular patency, and tumor growth was further substantiated as the effect of plasminogen deficiency on tumor growth could be reverted by superimposing heterozygous fibrinogen deficiency on Plg(-/-) mice. "
06/01/2014 - "These opposing outcomes were both mechanistically linked to fibrin(ogen), in that superimposing fibrinogen deficiency reversed both the proarthritic phenotype in the paws and arthritis resistance in the knees of plasminogen-deficient mice. "
06/01/1986 - "Platelets from patients with afibrinogenemia, Gray platelet syndrome, and the Cam Variant of thrombasthenia, a form of thrombasthenia with near normal levels of glycoprotein IIb/IIIa (GPIIb/IIIa), showed minimal augmentation of plasminogen binding to thrombin-stimulated platelets but normal binding to unstimulated platelets. "

09/01/2010 - "Congenital afibrinogenemia, a very rare autosomal recessive coagulation disorder, is characterized by undetectable and extremely low antigen levels of fibrinogen in plasma. "
09/01/2013 - "Hereditary fibrinogen abnormalities comprise two classes of plasma fibrinogen defects: Type I, afibrinogenemia or hypofibrinogenemia, which has absent or low plasma fibrinogen antigen levels (quantitative fibrinogen deficiencies), and Type II, dysfibrinogenemia or hypodysfibrinogenemia, which shows normal or reduced antigen levels associated with disproportionately low functional activity (qualitative fibrinogen deficiencies). "
08/01/2015 - "Quantitative fibrinogen deficiencies (hypofibrinogenemia and afibrinogenemia) are rare congenital disorders characterized by low/unmeasurable plasma fibrinogen antigen levels. "
04/01/2005 - "Type I fibrinogen deficiencies (hypofibrinogenemia and afibrinogenemia) are rare congenital disorders characterized by low or unmeasurable plasma fibrinogen antigen levels. "
06/01/1979 - "In this study, two subjects with congenital afibrinogenemia, a genetic defect in fibrinogen synthesis, were skin tested with standard microbial antigens: streptokinase-streptodornase, monilia, mumps, and tuberculin purified protein derivative. "

01/01/2015 - "The present study found that patients with postoperative fibrinogen deficiency experienced more operative blood loss and a higher rate of postoperative intracranial hematoma, and they were given more blood transfusions, more plasma transfusions, and were administered larger doses of hemocoagulase compared with patients without postoperative fibrinogen deficiency. "
08/01/1997 - "Treatment with batroxobin (30 BU/kg/day), which is a thrombin-like defibrinogenating enzyme, causing a profound degree of afibrinogenemia, suppressed clinical signs of TMEV-IDD. "
12/01/1996 - "Batroxobin converts circulating fibrinogen into an insoluble form and causes a profound degree of afibrinogenemia. "

10/01/1965 - "[Therapeutic effect of blood transfusion on probable congenital afibrinogenemia manifesting itself as an intractable hemorrhage from the umbilical cord]."
06/01/2005 - "These results supported a diagnosis of afibrinogenemia with a circulating antibody inhibitor to fibrin clot formation that developed secondary to blood transfusion."
01/01/2015 - "The present study found that patients with postoperative fibrinogen deficiency experienced more operative blood loss and a higher rate of postoperative intracranial hematoma, and they were given more blood transfusions, more plasma transfusions, and were administered larger doses of hemocoagulase compared with patients without postoperative fibrinogen deficiency. "
11/01/1980 - "He was treated with epsilon aminocaproic acid and whole fresh blood transfusion, with full recovery from afibrinogenemia 40 hours after the beginning of these measures and 75 hours after the snake bite. "
01/01/1954 - "[Congenital afibrinogenemia; report of a case with multiple bone cysts and formation of a specific antibody (anti fibrinogen) following blood transfusion]."

12/01/2012 - "A 29-year-old parturient with congenital afibrinogenemia was scheduled to receive cesarean section 38 weeks 2 days of gestation. "
12/01/2012 - "[Anesthetic management of a parturient with congenital afibrinogenemia undergoing cesarean section]."
12/01/1985 - "We report a case in which pregnancy was sustained in a woman with congenital afibrinogenemia with delivery by cesarean section. "
12/01/1956 - "Fibrinemboli of the lungs with afibrinogenemia after cesarean section, without the presence of amniotic epithelial squames."
02/01/1956 - "Acute afibrinogenemia following elective cesarean section; report of a case."

01/01/1963 - "[A CASE OF PUERPERAL DEATH DUE TO AFIBRINOGENEMIA, UNSUCCESSFULLY TREATED BY LIGATION OF THE UTERINE VESSELS]."
12/01/1959 - "Afibrinogenemia treated by ligation of uterine arteries."
08/01/1968 - "Uterine artery ligation in the management of postpartum hemorrhage due to fibrinogen deficiency."

11/01/2014 - "A patient with congenital afibrinogenemia, resulting from an FGA homozygous gene deletion, underwent an orthotopic liver transplant that resulted in complete restoration of normal hemostasis. "
01/01/2012 - "Other causes or associations reported very infrequently include other endoscopy, pulmonary, cardiac or abdominal surgery, hysterectomy, peliosis, empyema, remote pancreato-renal transplant, thrombosed splenic vein, hemangiomata, pancreatic pseudocysts, splenic artery aneurysm, cholesterol embolism, splenic granuloma, congenital diaphragmatic hernia, rib exostosis, pancreatitis, Gaucher's disease, Wilson's disease, pheochromocytoma, afibrinogenemia and ruptured ectopic pregnancy. "

06/01/2008 - "An observational case where congenital afibrinogenemia was presented with bilateral retinal and vitreous hemorrhages that proceeded to vitreoretinal surgery was presented. "