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Bruno Girolami - One of the best experts on this subject based on the ideXlab platform.

  • factor x friuli Coagulation Disorder almost 50 years later
    Clinical and Applied Thrombosis-Hemostasis, 2018
    Co-Authors: A Girolami, Elisabetta Cosi, Claudia Santarossa, Silvia Ferrari, Bruno Girolami, Anna Maria Lombardi
    Abstract:

    The story of factor X (FX) Friuli. Factor X Friuli was discovered in 1969 to 1970. However, the story of that disease was an international event since patients with this defect were studied in France and in Italy, and different diagnoses were reached-FVII; FX; combined prothrombin complex; and combined FII, FVII, and FX deficiencies. The diagnostic difficulties were due to the peculiar clotting pattern presented by these patients, namely, prolonged partial thromboplastin time, prolonged prothrombin time but normal Russell viper venom clotting time. Only suitable anti-FX antisera clarified the pattern. Altogether 12 homozygotes and 102 heterozygotes have been followed during 4 decades. Six homozygotes died, 2 of them due to HIV infection and 1 due to hepatitis B liver cirrhosis. The other 3 died of nontransfusion-related morbidity. Bleeding tendency has been moderate in agreement with the extrinsic or intrinsic system assay results-FX level of 4% to 5% is considered normal. Heterozygotes may present occasional bleeding manifestations usually during surgery or delivery. Molecular analysis have shown that the mutation responsible for the defect is a Pro343Ser substitution in exon 8. Chimeric FX Friuli mice have been useful in studying the effect of FX levels on embryonic or natal mortality of these animals. No new homozygote but several heterozygotes have been recently seen. The study of FX Friuli has revolutionized the diagnostic approach to FX deficiencies. The FX should be assayed by all assay systems. The FX Friuli has never been described in any other country, and all patients studied come from the Friuli Meduna River Valley.

  • unusual longevity in a patient with factor x friuli Coagulation Disorder
    Thrombosis and Haemostasis, 2005
    Co-Authors: A Girolami, Maria Luigia Randi, Fabiana Tezza, Gianludovico Molaro, Bruno Girolami
    Abstract:

    Longevity is rare in congenital bleeding Disorders. In the past, brain hemorrhages were the main cause of death, while AIDS and liver failure related to post-transfusion, hepatitis B or C have now become the major causes of death. Most data on causes of death refer to hemophiliacs and to von Willebrand disease (1-5). Information on rare Coagulation Disorders is scarce. This report was prompted by the opportunity to follow a group of patients with FX Friuli Disorders for approximately 35 years, and the observation that one of these patients is alive and well at the age of 102. . . .

A Girolami - One of the best experts on this subject based on the ideXlab platform.

  • factor x friuli Coagulation Disorder almost 50 years later
    Clinical and Applied Thrombosis-Hemostasis, 2018
    Co-Authors: A Girolami, Elisabetta Cosi, Claudia Santarossa, Silvia Ferrari, Bruno Girolami, Anna Maria Lombardi
    Abstract:

    The story of factor X (FX) Friuli. Factor X Friuli was discovered in 1969 to 1970. However, the story of that disease was an international event since patients with this defect were studied in France and in Italy, and different diagnoses were reached-FVII; FX; combined prothrombin complex; and combined FII, FVII, and FX deficiencies. The diagnostic difficulties were due to the peculiar clotting pattern presented by these patients, namely, prolonged partial thromboplastin time, prolonged prothrombin time but normal Russell viper venom clotting time. Only suitable anti-FX antisera clarified the pattern. Altogether 12 homozygotes and 102 heterozygotes have been followed during 4 decades. Six homozygotes died, 2 of them due to HIV infection and 1 due to hepatitis B liver cirrhosis. The other 3 died of nontransfusion-related morbidity. Bleeding tendency has been moderate in agreement with the extrinsic or intrinsic system assay results-FX level of 4% to 5% is considered normal. Heterozygotes may present occasional bleeding manifestations usually during surgery or delivery. Molecular analysis have shown that the mutation responsible for the defect is a Pro343Ser substitution in exon 8. Chimeric FX Friuli mice have been useful in studying the effect of FX levels on embryonic or natal mortality of these animals. No new homozygote but several heterozygotes have been recently seen. The study of FX Friuli has revolutionized the diagnostic approach to FX deficiencies. The FX should be assayed by all assay systems. The FX Friuli has never been described in any other country, and all patients studied come from the Friuli Meduna River Valley.

  • unusual longevity in a patient with factor x friuli Coagulation Disorder
    Thrombosis and Haemostasis, 2005
    Co-Authors: A Girolami, Maria Luigia Randi, Fabiana Tezza, Gianludovico Molaro, Bruno Girolami
    Abstract:

    Longevity is rare in congenital bleeding Disorders. In the past, brain hemorrhages were the main cause of death, while AIDS and liver failure related to post-transfusion, hepatitis B or C have now become the major causes of death. Most data on causes of death refer to hemophiliacs and to von Willebrand disease (1-5). Information on rare Coagulation Disorders is scarce. This report was prompted by the opportunity to follow a group of patients with FX Friuli Disorders for approximately 35 years, and the observation that one of these patients is alive and well at the age of 102. . . .

Michiko Kajiwara - One of the best experts on this subject based on the ideXlab platform.

  • early Coagulation Disorder after allogeneic stem cell transplantation is a strong prognostic factor for transplantation related mortality and intervention with recombinant human thrombomodulin improves the outcome a single center experience
    International Journal of Hematology, 2013
    Co-Authors: Masayuki Nagasawa, Teppei Ohkawa, Akifumi Endo, Noriko Mitsuiki, Toshiaki Ono, Yuki Aoki, Takeshi Isoda, Daisuke Tomizawa, Masatoshi Takagi, Michiko Kajiwara
    Abstract:

    We retrospectively analyzed 60 cases of pediatric patients who received allogeneic stem cell transplantation (SCT) between 2000 and 2008, using the tentative scoring system for evaluation of early (<30 days) Coagulation Disorders. In the 41 patients who survived, d-dimer levels showed a transient increase 2 weeks after SCT and normalized thereafter, but these levels were persistently elevated in the 19 patients who died. Of 19 patients with a positive score, 11 died of transplantation-related complications [transplantation-related mortality (TRM) = 0.579] within 1 year, while none of the 41 with a negative score died during the same period. Since 2009, 12 of 30 patients had positive scores within 30 days after SCT. Intervention with recombinant human thrombomodulin (rhTM) was introduced for patients with a positive score, and 10 of these patients survived (TRM = 0.167) along with a dramatic improvement of d-dimer level. Although the effects of this treatment were observed in a limited number of patients, our observations suggest that early Coagulation Disorder after allogeneic SCT is a strong prognostic factor for TRM, and that intervention with rhTM improves TRM.

Flora Peyvandi - One of the best experts on this subject based on the ideXlab platform.

  • a rare inherited Coagulation Disorder combined homozygous factor vii and factor x deficiency
    American Journal of Hematology, 2004
    Co-Authors: Marzia Menegatti, Mehran Karimi, Isabella Garagiola, Piermannuccio Mannucci, Flora Peyvandi
    Abstract:

    The combined presence in the homozygous state of more than one recessively transmitted Coagulation defect may rarely occur in countries with a high rate of consanguinity. In an Iranian family consisting of two parents (second cousins) and two affected siblings, initial phenotypic analysis led to a diagnosis of mild FX deficiency (10-19% FX activity, 42-54% FX:Ag), and genotyping revealed a new homozygous missense mutation in the corresponding gene (Ser3Cys). As both of the sibs had a severe bleeding history that was not compatible with mild deficiency of FX, further phenotypic analysis revealed the additional presence of severe FVII deficiency (<1% FVII activity; 63-111% FVII:Ag) associated with the homozygous missense gene mutation Cys310Phe. In this kindred, lack of identification of the double Coagulation defect might have led not only to incomplete understanding of the clinical phenotype but also to an incorrect prenatal diagnosis.

U Hedner - One of the best experts on this subject based on the ideXlab platform.