70 results on '"Giansily‐Blaizot, Muriel"'
Search Results
52. Model of a Ternary Complex between Activated Factor VII, Tissue Factor and Factor IX
- Author
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Chen, Shu-wen, primary, Schved, Jean-François, primary, Pellequer, Jean-Luc, additional, and Giansily-Blaizot, Muriel, additional
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- 2002
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53. Analysis of the genotypes and phenotypes of 37 unrelated patients with inherited factor VII deficiency.
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Giansily-Blaizot, Muriel, Aguilar-Martinez, Patricia, Biron-Andreani, Christine, Jeanjean, Philippe, Igual, Hélène, and Schved, Jean-François
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- *
BLOOD coagulation factors , *GENETIC mutation - Abstract
Severe inherited factor VII (FVII) deficiency is a rare autosomal recessive disorder with a poor relationship between FVII coagulant activity and bleeding tendency. Both clinical expression and mutational spectrum are highly variable. We have screened for mutations the FVII gene of 37 unrelated patients with a FVII coagulant activity less than 5% of normal pooled plasmas. The nine exons with boundaries and the 5′ flanking region of the FVII gene were explored using a combination of denaturing gradient gel electrophoresis and direct DNA sequencing. This strategy allowed us to characterise 68 out of the 74 predicted FVII mutated alleles. They corresponded to a large panel of 40 different mutations. Among these, 18 were not already reported. Genotypes of the severely affected patients comprised, on both alleles, deleterious mutations which appeared to be related to a total absence of activated FVII. We suggest that this absence of functional FVII can explain the severe clinical expression. Whether a small release of FVII is sufficient to initiate the coagulation cascade and to prevent the expression of a severe phenotype, requires further investigations. European Journal of Human Genetics (2001) 9, 105–112. [ABSTRACT FROM AUTHOR]
- Published
- 2001
54. Lethal factor VII deficiency due to novel mutations in the F7 promoter: Functional analysis reveals disruption of HNF4 binding site
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Giansily-Blaizot, Muriel, Lopez, Estelle, Viart, Victoria, Chafa, Ouerdia, Tapon-Bretaudière, Jacqueline, Claustres, Mireille, and Taulan, Magali
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- 2012
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55. Potential predictors of bleeding risk in inherited factorVII deficiency
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Giansily-Blaizot, Muriel and Schved, Jean-Francois
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- 2005
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56. Accurate characterization of the IVS7 repeat polymorphism of FVII gene and identification of three novel allelic forms
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Giansily-Blaizot, Muriel, Flory-Pigagniol, Laurie, Favier, Remi, Farah, Roula A., Martin-Toutain, Isabelle, Verdy, Elisabeth, and Schved, Jean-Francois
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- 2006
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57. Pharmacokinetic properties of recombinant FVIIa in inherited FVII deficiency account for a large volume of distribution at steady state and a prolonged pharmacodynamic effect.
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Morfini, Massimo, Batorova, Angelika, Mariani, Guglielmo, Auerswald, Günter, Bernardi, Francesco, Di Minno, Giovanni, Dolce, Alberto, Fede, Calogero, Giansily-Blaizot, Muriel, Ingerslev, Jörgen, Martinowitz, Uri, Napolitano, Mariasanta, Pinotti, Mirko, and Schved, Jean-Francois
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- 2014
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58. Prophylaxis in congenital factor VII deficiency: indications, efficacy and safety. Results from the Seven Treatment Evaluation Registry (STER)
- Author
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Ampaiwan Chuansumrit, Jens Bjerre, Lisa Michaels, M. Napolitano, Pimlak Charoenkwan, G. Mariani, Muriel Giansily-Blaizot, Umran Caliskan, Guenter Auerswald, Carmen Altisent, Jørgen Ingerslev, Giovanni Di Minno, Alberto Dolce, Jean-François Schved, Selçuk Üniversitesi, Napolitano,M, Giansily-Bliazot,M, Dolce, A, Schved,JF, Auerswald,G, Ingerrslev,J, Bjerre,J, Altisent,C, Charoenkwan,P, Micheals,L, Chuansumrit,A, Di Minno,G, Caliskan, U, Mariani, G, Napolitano, Mariasanta, Giansily Blaizot, Muriel, Dolce, Alberto, Schved, Jean F., Auerswald, Guenter, Ingerslev, Jørgen, Bjerre, Jen, Altisent, Carmen, Charoenkwan, Pimlak, Michaels, Lisa, Chuansumrit, Ampaiwan, DI MINNO, Giovanni, Caliskan, Ümran, and Mariani, Guglielmo
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Registrie ,Severe bleeding ,Adult ,Male ,Pediatrics ,medicine.medical_specialty ,Time Factors ,Time Factor ,Adolescent ,Factor VII Deficiency ,PROPHYLAXIS, FACTOR VII DEFICIENCY ,Factor VIIa ,chemistry.chemical_compound ,Plasma ,Young Adult ,Medicine ,Humans ,Registries ,Young adult ,Factor VII deficiency ,Child ,Factor VII ,business.industry ,Infant ,Hematology ,Recombinant Protein ,Middle Aged ,medicine.disease ,Thrombosis ,Recombinant Proteins ,Clinical trial ,Treatment Outcome ,chemistry ,Treatment evaluation ,Weekly dose ,Child, Preschool ,Female ,Original Articles and Brief Reports ,business ,Human - Abstract
WOS: 000319897700018, PubMed: 23403322, Because of the very short half-life of factor VII, prophylaxis in factor VII deficiency is considered a difficult endeavor. The clinical efficacy and safety of prophylactic regimens, and indications for their use, were evaluated in factor VII-deficient patients in the Seven Treatment Evaluation Registry. Prophylaxis data (38 courses) were analyzed from 34 patients with severe factor VII deficiency (10 years. No thrombosis or new inhibitors occurred. In conclusion, a subset of patients with factor VII deficiency needed prophylaxis because of severe bleeding. Recombinant activated factor VII schedules based on "frequent" administrations (three times weekly) and a 90 mu g/kg total weekly dose were effective. These data provide a rationale for long-term, safe prophylaxis in factor VII deficiency., Novo Nordisk and charities; Novo Nordisk A/SNovo Nordisk, This work was supported by institutional research organizations and unrestricted funding from Novo Nordisk and charities, administered by the Internal Medicine Department of the University of L'Aquila. GM, as coordinator of the International FVII Study Group and the STER, collected the financial support. Editorial assistance to the authors during the preparation of this manuscript was provided by Sharon Eastwood (medical writer, PAREXEL) and financially supported by Novo Nordisk A/S, in compliance with international guidelines for good publication practice.
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- 2013
59. APOLD1 loss causes endothelial dysfunction involving cell junctions, cytoskeletal architecture, and Weibel-Palade bodies, while disrupting hemostasis.
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Stritt S, Nurden P, Nurden AT, Schved JF, Bordet JC, Roux M, Alessi MC, Trégouët DA, Mäkinen T, and Giansily-Blaizot M
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- Humans, von Willebrand Factor genetics, Endothelial Cells physiology, Angiopoietin-2 genetics, Exocytosis physiology, Hemostasis, Intercellular Junctions, Weibel-Palade Bodies, Vascular Diseases
- Abstract
Vascular homeostasis is impaired in various diseases thereby contributing to the progression of their underlying pathologies. The endothelial immediate early gene Apolipoprotein L domain-containing 1 (APOLD1) helps to regulate endothelial function. However, its precise role in endothelial cell biology remains unclear. We have localized APOLD1 to endothelial cell contacts and to Weibel-Palade bodies (WPB) where it associates with von Willebrand factor (VWF) tubules. Silencing of APOLD1 in primary human endothelial cells disrupted the cell junction-cytoskeletal interface, thereby altering endothelial permeability accompanied by spontaneous release of WPB contents. This resulted in an increased presence of WPB cargoes, notably VWF and angiopoietin-2 in the extracellular medium. Autophagy flux, previously recognized as an essential mechanism for the regulated release of WPB, was impaired in the absence of APOLD1. In addition, we report APOLD1 as a candidate gene for a novel inherited bleeding disorder across three generations of a large family in which an atypical bleeding diathesis was associated with episodic impaired microcirculation. A dominant heterozygous nonsense APOLD1:p.R49* variant segregated to affected family members. Compromised vascular integrity resulting from an excess of plasma angiopoietin-2, and locally impaired availability of VWF may explain the unusual clinical profile of APOLD1:p.R49* patients. In summary, our findings identify APOLD1 as an important regulator of vascular homeostasis and raise the need to consider testing of endothelial cell function in patients with inherited bleeding disorders without apparent platelet or coagulation defects.
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- 2023
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60. Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency.
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Ferraresi P, Balestra D, Guittard C, Buthiau D, Pan-Petesh B, Maestri I, Farah R, Pinotti M, and Giansily-Blaizot M
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- Exons, Factor VII genetics, Factor VII metabolism, High-Throughput Nucleotide Sequencing, Homozygote, Humans, Mutation, RNA Splicing, Factor VII Deficiency diagnosis, Factor VII Deficiency genetics, Factor VII Deficiency therapy
- Abstract
Despite the exhaustive screening of F7 gene exons and exon-intron boundaries and promoter region, a significant proportion of mutated alleles remains unidentified in patients with coagulation factor VII deficiency. Here, we applied next-generation sequencing to 13 FVII-deficient patients displaying genotype-phenotype discrepancies upon conventional sequencing, and identified six rare intronic variants. Computational analysis predicted splicing effects for three of them, which would strengthen (c.571+78G>A; c.806-329G>A) or create (c.572-392C>G) intronic 5' splice sites (5'ss). In F7 minigene assays, the c.806-329G>A was ineffective while the c.571+78G>A change led to usage of the +79 cryptic 5'ss with only trace levels of correct transcripts (3% of wild-type), in accordance with factor VII activity levels in homozygotes (1-3% of normal). The c.572-392C>G change led to pseudo-exonization and frame-shift, but also substantial levels of correct transcripts (approx. 70%). However, this variant was associated with the common F7 polymorphic haplotype, predicted to further decrease factor VII levels; this provided some kind of explanation for the 10% factor VII levels in the homozygous patient. Intriguingly, the effect of the c.571+78G>A and c.572-392C>G changes, and particularly of the former (the most severe and well-represented in our cohort), was counteracted by antisense U7snRNA variants targeting the intronic 5'ss, thus demonstrating their pathogenic role. In conclusion, the combination of next-generation sequencing of the entire F7 gene with the minigene expression studies elucidated the molecular bases of factor VII deficiency in 10 of 13 patients, thus improving diagnosis and genetic counseling. It also provided a potential therapeutic approach based on antisense molecules that has been successfully exploited in other disorders., (Copyright© 2020 Ferrata Storti Foundation.)
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- 2020
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61. Prophylaxis in congenital factor VII deficiency: indications, efficacy and safety. Results from the Seven Treatment Evaluation Registry (STER).
- Author
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Napolitano M, Giansily-Blaizot M, Dolce A, Schved JF, Auerswald G, Ingerslev J, Bjerre J, Altisent C, Charoenkwan P, Michaels L, Chuansumrit A, Di Minno G, Caliskan U, and Mariani G
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- Adolescent, Adult, Child, Child, Preschool, Factor VIIa genetics, Female, Humans, Infant, Male, Middle Aged, Recombinant Proteins therapeutic use, Registries statistics & numerical data, Time Factors, Treatment Outcome, Young Adult, Factor VII therapeutic use, Factor VII Deficiency prevention & control, Factor VIIa therapeutic use, Plasma
- Abstract
Because of the very short half-life of factor VII, prophylaxis in factor VII deficiency is considered a difficult endeavor. The clinical efficacy and safety of prophylactic regimens, and indications for their use, were evaluated in factor VII-deficient patients in the Seven Treatment Evaluation Registry. Prophylaxis data (38 courses) were analyzed from 34 patients with severe factor VII deficiency (<1-45 years of age, 21 female). Severest phenotypes (central nervous system, gastrointestinal, joint bleeding episodes) were highly prevalent. Twenty-one patients received recombinant activated factor VII (24 courses), four received plasma-derived factor VII, and ten received fresh frozen plasma. Prophylactic schedules clustered into "frequent" courses (three times weekly, n=23) and "infrequent" courses (≤ 2 times weekly, n=15). Excluding courses for menorrhagia, "frequent" and "infrequent" courses produced 18/23 (78%) and 5/12 (41%) "excellent" outcomes, respectively; relative risk, 1.88; 95% confidence interval, 0.93-3.79; P=0.079. Long term prophylaxis lasted from 1 to >10 years. No thrombosis or new inhibitors occurred. In conclusion, a subset of patients with factor VII deficiency needed prophylaxis because of severe bleeding. Recombinant activated factor VII schedules based on "frequent" administrations (three times weekly) and a 90 μg/kg total weekly dose were effective. These data provide a rationale for long-term, safe prophylaxis in factor VII deficiency.
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- 2013
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62. Homozygous mutation of the 5'UTR region of the L-Ferritin gene in the hereditary hyperferritinemia cataract syndrome and its impact on the phenotype.
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Giansily-Blaizot M, Cunat S, Moulis G, Schved JF, and Aguilar-Martinez P
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- Base Sequence, Cataract congenital, DNA Mutational Analysis, Family Health, Female, Homozygote, Humans, Iron Metabolism Disorders congenital, Male, Middle Aged, Pedigree, Syndrome, 5' Untranslated Regions genetics, Apoferritins genetics, Cataract genetics, Iron Metabolism Disorders genetics, Mutation
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- 2013
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63. Natural and engineered carboxy-terminal variants: decreased secretion and gain-of-function result in asymptomatic coagulation factor VII deficiency.
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Branchini A, Rizzotto L, Mariani G, Napolitano M, Lapecorella M, Giansily-Blaizot M, Mari R, Canella A, Pinotti M, and Bernardi F
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- Animals, Cattle, Child, Enzyme-Linked Immunosorbent Assay, Female, Heterozygote, Homozygote, Humans, Male, Middle Aged, Mutagenesis, Site-Directed, Prothrombin Time, Rabbits, Thromboplastin metabolism, Blood Coagulation genetics, Codon, Nonsense genetics, Factor VII genetics, Factor VII metabolism, Factor VII Deficiency genetics, Factor VII Deficiency metabolism
- Abstract
We report 2 asymptomatic homozygotes for the nonsense p.R462X mutation affecting the carboxy-terminus of coagulation factor VII (FVII, 466 aminoacids). FVII levels of 3-5% and 2.7 ± 0.4% were found in prothrombin time-based and activated factor X (FXa) generation assays with human thromboplastins. Noticeably, FVII antigen levels were barely detectable (0.7 ± 0.2%) which suggested a gain-of-function effect. This effect was more pronounced with bovine thromboplastin (4.8 ± 0.9%) and disappeared with rabbit thromboplastin (0.7 ± 0.2%). This suggests that the mutation influences tissue factor/FVII interactions. Whereas the recombinant rFVII-462X variant confirmed an increase in specific activity (~400%), a panel of nonsense (p.P466X, p.F465X, p.P464X, p.A463X) and missense (p.R462A, p.R462Q, p.R462W) mutations of the FVII carboxy-terminus resulted in reduced secretion but normal specific activity. These data provide evidence for counteracting pleiotropic effects of the p.R462X mutation, which explains the asymptomatic FVII deficiency, and contributes to our understanding of the role of the highly variable carboxy-terminus of coagulation serine proteases.
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- 2012
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64. HAMP promoter mutation nc.-153C>T in non p.C282Y homozygous patients with iron overload.
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Aguilar-Martinez P, Giansily-Blaizot M, Bismuth M, Cunat S, Igual H, and Schved JF
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- Aged, Genotype, Hepcidins, Homozygote, Humans, Iron Overload pathology, Male, Middle Aged, Response Elements, Antimicrobial Cationic Peptides genetics, Iron Overload genetics, Mutation genetics, Promoter Regions, Genetic genetics
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- 2010
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65. The Southern French registry of genetic hemochromatosis: a tool for determining clinical prevalence of the disorder and genotype penetrance.
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Aguilar-Martinez P, Bismuth M, Blanc F, Blanc P, Cunat S, Dereure O, Dujols P, Giansily-Blaizot M, Jorgensen C, Konate A, Larrey D, Le Quellec A, Mura T, Raingeard I, Ramos J, Renard E, Rousseau F, Schved JF, and Picot MC
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- Female, France epidemiology, Genetic Testing, Genotype, Hemochromatosis diagnosis, Hemochromatosis epidemiology, Homozygote, Humans, Male, Middle Aged, Mutation genetics, Penetrance, Registries, White People, Genetic Predisposition to Disease, Hemochromatosis genetics, Iron Overload genetics
- Abstract
Background: Despite great progress in understanding the mechanisms underlying genetic hemochromatosis, data on the prevalence and the penetrance of the disorder are conflicting., Design and Methods: A registry of patients with genetic hemochromatosis was established in the South of France and a regional health network was developed to allow the inclusion of all the diagnosed patients. C282Y homozygous patients classified in stages 2 (biological iron overload), 3 and 4 (clinical manifestations of iron overload, stage 4 being the more severe) according to the classification of the French National Authority for Health were included in the registry over a 6-year period., Results: A total of 352 symptomatic C282Y homozygotes were identified, resulting in a total prevalence of 1.83 per 10,000 (95% CI: 1.63 to 2.02) in subjects over 20 years and 2.40 per 10,000 (95% CI, 2.15 to 2.65) among subjects of European descent. Among Europeans, the total calculated penetrance was 15.8% in stage 2 or higher, 12.1% in stage 3 or 4 and 2.9% in stage 4. The penetrance was slightly higher in males (18.7%) than in females (13.2%). It was 19.9% for individuals over 40 years of age (24.1% and 16.3% in males and females, respectively) with a maximum of 31% in subjects between 50 and 54 years old. Among 249 patients with complete records, 24% were in stage 2, the majority (58%) were in stage 3, and 18% in stage 4. There was a higher proportion of males, and excessive alcohol intake was more prevalent in stage 4 than in stages 2 and 3 combined., Conclusions: A French Mediterranean regional hemochromatosis registry with strict inclusion criteria is a useful tool for characterizing the history of this disease, particularly for the most severely affected patients, as defined by the disease severity classification. The total prevalence of symptomatic C282Y homozygotes in the region was found to be low. However, clinical penetrance (stages 3 and 4) was not negligible.
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- 2010
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66. Global sequencing approach for characterizing the molecular background of hereditary iron disorders.
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Cunat S, Giansily-Blaizot M, Bismuth M, Blanc F, Dereure O, Larrey D, Quellec AL, Pouderoux P, Rose C, Raingeard I, Renard E, Schved JF, and Aguilar-Martinez P
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- Adult, Aged, Child, Female, Ferritins blood, Hemochromatosis genetics, Humans, Male, Middle Aged, Molecular Diagnostic Techniques, Mutation, Nucleic Acid Amplification Techniques, Iron Metabolism Disorders genetics, Sequence Analysis, DNA methods
- Abstract
Background: New genetic forms of hereditary hemochromatosis (HH) or hereditary hyperferritinemia (HF) have been identified over the last few years, and abnormalities of various genes may interact in a single patient. This study aimed to develop a rapid automated method for sequencing the main genes involved., Methods: We used a standard 96-well microplate with a single PCR condition in an adaptation of the SCAIP (single-condition amplification with internal primer) method to sequence the HFE (hemochromatosis), HAMP (hepcidin antimicrobial peptide), HFE2/HJV [hemochromatosis type 2 (juvenile)], SLC40A1 (ferroportin), and TFR2 (transferrin receptor 2) genes, and the 5' untranslated region of the FTL (ferritin, light polypeptide) gene. To further simplify the method, we adjusted PCR conditions to avoid the use of an internal primer and applied this single-condition amplification method to 38 selected, unrelated patients. We tailored the genetic investigation according to the clinical picture, with the patients falling into 2 groups. Group 1 consisted of patients with hyperferritinemia and high transferrin saturation (TS) (classic adult and juvenile HH forms, groups 1A and 1B, respectively), and group 2 consisted of patients with hyperferritinemia and low, typical, or slightly increased TS, with or without iron overload (groups 2A and 2B, respectively)., Results: With this strategy we identified single-gene and multigene abnormalities, including 6 previously undescribed abnormalities in HFE (c.794dupA), HFE2 (c.-89-4dupT), and SLC40A1 (c.262A>G, c.533G>A, c.1468G>A, and c.-59_-45del)., Conclusion: This method is a simple approach for investigating hereditary iron overload or HF and allows rapid evaluation of patients.
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- 2007
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67. A novel mutation of the beta-globin gene promoter (-102 C>A) and pitfalls in family screening.
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Aguilar-Martinez P, Jourdan E, Brun S, Cunat S, Giansily-Blaizot M, Pissard S, and Schved JF
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- Adolescent, Family, Female, Genetic Testing, Humans, Male, Pedigree, Reproducibility of Results, Globins genetics, Mutation, Polymorphism, Single Nucleotide, Promoter Regions, Genetic
- Abstract
We describe a family with beta-thalassemia in which several pitfalls of genetic diagnoses were present. These include coherent family phenotypes with discrepancies in molecular findings because of nonpaternity, and a false beta-globin gene homozygous genotype due to a large deletion in the second locus. These findings underline the difficulties of family genetic studies and the need for tight relationship between professionals involved in laboratory studies and those in-charge of the clinical follow-up and genetic counselling. In this family, we also report a new silent beta-thalassemia mutation, -102 (C>A), in the distal CACCC box of the beta-globin gene promoter.
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- 2007
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68. Analysis of biological phenotypes from 42 patients with inherited factor VII deficiency: can biological tests predict the bleeding risk?
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Giansily-Blaizot M, Verdier R, Biron-Adréani C, Schved JF, Bertrand MA, Borg JY, Le Cam-Duchez V, Briquel ME, Chambost H, Pouymayou K, Dutrillaux F, Favier R, Martin-Toutain I, Verdy E, Gay V, Goudemand J, Navarro R, Durin A, d'Oiron R, Lambert T, Pernod G, Barrot C, Peynet J, Bastenaire B, Sie P, Stieltjes N, Torchet MF, and de Moerloose P
- Subjects
- Adolescent, Adult, Blood Coagulation Disorders, Inherited, Child, Child, Preschool, Factor VII Deficiency blood, Female, Hemorrhage blood, Humans, Male, Middle Aged, Predictive Value of Tests, Risk, Severity of Illness Index, Factor VII analysis, Factor VII Deficiency diagnosis
- Abstract
Background and Objectives: Inherited factor VII (FVII) deficiency is a rare bleeding disorder characterized by a poor relationship between reported FVII clotting activity (FVII:C) and bleeding tendency. Our study was aimed at defining biological parameters that are possibly predictive for bleeding risk in this condition., Design and Methods: Forty-two FVII-deficient patients (FVII:C <30%) were classified into two opposite clinical groups defined as severe and non-or-mild bleeders. For each patient, plasma samples were collected and then investigated for FVII:C (using a sensitive method and human recombinant thromboplastin as the reagent), FVII antigen, activated FVII coagulant activity (FVIIa:C) and the free-form of tissue factor pathway inhibitor., Results: None of these tests could be used as highly accurate predictors of bleeding. Nevertheless, both FVII:C and FVIIa:C differed significantly between the two clinical groups. Using ROC-curve analysis, two critical values of 8% and 3mIU/mL for FVII:C and FVIIa:C, respectively, could be proposed to discriminate between severe bleeders and non-or-mild bleeders., Interpretation and Conclusions: A highly accurate diagnostic test for predicting bleeding tendency in inherited FVII deficiency still eludes definition, highlighting the fact that factors other than FVII itself interfere with the expression of bleeding phenotypes in this condition. Nevertheless, potential critical values using sensitive FVII:C and FVIIa:C methods may be useful in clinical laboratories for FVII-deficient patients. Those patients with FVII:C levels higher than 8% FVII:C or FVIIa:C higher than 3 mIU/mL, with no other hemostatic defect, seem to have a minimal risk of severe bleeding. Extended clinical studies are needed to support these findings.
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- 2004
69. Inherited factor VII deficiency and surgery: clinical data are the best criteria to predict the risk of bleeding.
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Giansily-Blaizot M, Biron-Andreani C, Aguilar-Martinez P, de Moeloose P, Briquel ME, Goudemand J, Stieltjes N, Barrot C, Chambost H, Durin A, Gay V, Peynet J, Pouymayou K, and Schved JF
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- Adolescent, Adult, Aged, Aged, 80 and over, Blood Transfusion, Child, Female, Genetic Predisposition to Disease, Hemostasis, Surgical, Humans, Male, Middle Aged, Patient Selection, Pregnancy, Retrospective Studies, Risk Factors, Blood Loss, Surgical, Factor VII Deficiency surgery, Hemorrhage genetics
- Abstract
Inherited factor VII (FVII) deficiency is a rare autosomal disorder characterized by a weak relationship between FVII activity (FVII:C) and operative bleeding risk. We report a retrospective study of 17 patients with a FVII:C below 0.1 IU/ml, in whom surgery was performed without any replacement therapy. Clinical and biological data were analysed to establish predictive criteria for bleeding tendency. We found that systematic preoperative replacement therapy may not be necessary for 'minor' surgical procedures, for patients suffering from inherited FVII deficiency, unless the clinical history includes severe haemorrhagic symptoms such as haemarthrosis, severe haematomas (even of soft tissue) or abundant epistaxis.
- Published
- 2002
- Full Text
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70. Genotypic heterogeneity may explain phenotypic variations in inherited factor VII deficiency.
- Author
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Giansily-Blaizot M, Aguilar-Martinez P, and Schved JF
- Subjects
- Factor VII genetics, Family Health, Female, Hemorrhage etiology, Hemorrhage genetics, Humans, Middle Aged, Mutation, Phenotype, Factor VII Deficiency genetics, Genetic Heterogeneity
- Abstract
Inherited factor VIl (FVII) deficiency is a rare autosomal recessive coagulation disorder characterized by a wide genet-ic heterogeneity and a poor relationship between FVII activity (FVII:C) levels and severity of the hemorrhagic diathesis. Given both the rarity and the heterogeneity of this disorder,genotype-phenotype relationships are difficult to clarify. The analysis of three FVII-deficient patients enabled us to offer some explanations.
- Published
- 2002
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