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Your search keyword '"Fabris, F"' showing total 19 results
Start Over Author "Fabris, F" Journal thrombosis and haemostasis
19 results on '"Fabris, F"'

8. Intriguing outcome of JAK2V617F mutation seen in a patient with MYH9-related hereditary macrothrombocytopenia.

Author

Fabris F, Scandellari R, Vettore S, Scapin M, Bizzaro N, and Randi ML

Subjects
Aged, Aorta, Abdominal diagnostic imaging, Aorta, Abdominal pathology, Cell Growth Processes genetics, DNA Mutational Analysis, Female, Hearing Loss, Sensorineural, Humans, Hypertrophy, Left Ventricular, Janus Kinase 2 metabolism, Molecular Motor Proteins genetics, Mutation genetics, Myeloproliferative Disorders complications, Myeloproliferative Disorders pathology, Myeloproliferative Disorders physiopathology, Myosin Heavy Chains genetics, Radiography, Thrombocytopenia complications, Thrombocytopenia diagnosis, Thrombocytopenia genetics, Thrombocytopenia pathology, Thrombocytopenia physiopathology, Thrombopoiesis genetics, Thrombosis, Ultrasonography, Janus Kinase 2 genetics, Molecular Motor Proteins metabolism, Myeloproliferative Disorders diagnosis, Myeloproliferative Disorders genetics, Myosin Heavy Chains metabolism
Published
2010
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9. Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder.

Author

Savoia A, De Rocco D, Panza E, Bozzi V, Scandellari R, Loffredo G, Mumford A, Heller PG, Noris P, De Groot MR, Giani M, Freddi P, Scognamiglio F, Riondino S, Pujol-Moix N, Fabris F, Seri M, Balduini CL, and Pecci A

Subjects
Adolescent, Adult, Aged, Aged, 80 and over, Case-Control Studies, Child, Child, Preschool, DNA Mutational Analysis, Female, Fluorescent Antibody Technique, Humans, Inclusion Bodies pathology, Italy, Male, Microscopy, Fluorescence, Middle Aged, Molecular Motor Proteins genetics, Mutation, Myosin Heavy Chains genetics, Neutrophils pathology, Predictive Value of Tests, Prospective Studies, Registries, Sensitivity and Specificity, Thrombocytopenia blood, Thrombocytopenia genetics, Thrombocytopenia pathology, Young Adult, Inclusion Bodies metabolism, Molecular Motor Proteins blood, Myosin Heavy Chains blood, Neutrophils metabolism, Thrombocytopenia diagnosis
Abstract

MYH9-related disease ( MYH9-RD) is an autosomal dominant thrombocytopenia with giant platelets variably associated with young-adult onset of progressive sensorineural hearing loss, presenile cataract, and renal damage. MYH9-RD is caused by mutations of MYH9 , the gene encoding for non-muscle heavy-chain myosin-9. Wild-type and mutant myosin-9 aggregate as cytoplasmic inclusions in patients' leukocytes, the identification of which by immunofluorescence has been proposed as a suitable tool for the diagnosis of MYH9-RD. Since the predictive value of this assay, in terms of sensitivity and specificity, is unknown, we investigated 118 consecutive unrelated patients with a clinical presentation strongly consistent with MYH9-RD. All patients prospectively underwent both the immunofluorescence assay for myosin-9 aggregate detection and molecular genetic analysis of the MYH9 gene. Myosin-9 aggregates were identified in 82 patients, 80 of which (98%) had also a MYH9 mutation. In the remaining 36 patients neither myosin-9 aggregates nor MYH9 mutations were found. Sensitivity and specificity of the immunofluorescence assay was evaluated to be 100% and 95%, respectively. Except for the presence of aggregates, we did not find any other significant difference between patients with or without aggregates, demonstrating that the myosin-9 inclusions in neutrophils are a pathognomonic sign of the disease. However, the identification of the specific MYH9 mutation is still of importance for prognostic aspects of MYH9-RD.

Published
2010
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10. Haemostatic proteins gene polymorphisms in patients with unusual vein thrombosis and Ph-myeloproliferative disorders.

Author

Randi ML, Lombardi AM, Scapin M, Tezza F, Scandellari R, Ruzzon E, Duner E, and Fabris F

Subjects
Adult, Case-Control Studies, DNA Mutational Analysis, Factor XII genetics, Female, Fibrinogen genetics, Humans, Integrin beta3 genetics, Janus Kinase 2 genetics, Male, Polycythemia Vera blood, Polycythemia Vera complications, Risk Assessment, Risk Factors, Thrombocythemia, Essential blood, Thrombocythemia, Essential complications, Venous Thrombosis blood, Hemostasis genetics, Philadelphia Chromosome, Polycythemia Vera genetics, Polymorphism, Genetic, Thrombocythemia, Essential genetics, Venous Thrombosis genetics
Published
2007

11. Selection of both normal and bleeding patients is indicated before desmopressin administration.

Author

Girolami A, Vettore S, and Fabris F

Subjects
Contraceptives, Oral, Combined adverse effects, Female, Hemostatics adverse effects, Humans, Patient Selection, Risk Factors, Smoking adverse effects, von Willebrand Diseases drug therapy, Cerebral Arterial Diseases chemically induced, Deamino Arginine Vasopressin adverse effects, Intracranial Thrombosis chemically induced
Published
2005

12. Heparin-induced thrombocytopenia: discrepancy between the presence of IgG cross-reacting in vitro with fraxiparine and its successful clinical use.

Author

Luzzatto G, Cordiano I, Patrassi G, and Fabris F

Subjects
Anticoagulants adverse effects, Anticoagulants therapeutic use, Cross Reactions, Humans, Nadroparin therapeutic use, Thrombocytopenia immunology, Anticoagulants immunology, Heparin adverse effects, Immunoglobulin G immunology, Nadroparin immunology, Thrombocytopenia chemically induced
Published
1996

14. Beta-thromboglobulin (beta tg) and platelet factor 4 (PF4) in patients with myeloproliferative diseases.

Author

Fabris F, Luzzatto G, Randi ML, and Cella G

Subjects
Anticoagulants pharmacology, Citrates pharmacology, Citric Acid, Endothelium, Vascular metabolism, Humans, Platelet Activation, Platelet Aggregation Inhibitors pharmacology, Platelet Factor 4 metabolism, Ultracentrifugation methods, Artifacts, Blood Specimen Collection methods, Platelet Factor 4 analysis, Thrombocythemia, Essential blood, beta-Thromboglobulin analysis
Published
1994

15. Increased factor VIII associated activities in Cushing's syndrome: a probable hypercoagulable state.

Author

Dal Bo Zanon R, Fornasiero L, Boscaro M, Cappellato G, Fabris F, and Girolami A

Subjects
Cushing Syndrome surgery, Female, Humans, Male, Postoperative Complications, Blood Coagulation Disorders etiology, Cushing Syndrome blood, Factor VIII analysis
Abstract

Thirteen women and 2 men affected by Cushing's syndrome were investigated. The following parameters were used: plasma and urinary cortisol levels, factor VIII assay (antigen, activity and von Willebrand factor) together with other coagulative assays. Samples were taken before surgery or before medical and/or radiation therapy and every 30-50 days after treatment and continued for 11 months. Cortisol and factor VIII were increased before treatment and decreased slowly after treatment to become normal in 3-4 months. Other clotting tests did not show significant changes. It seems that high plasma cortisol levels may stimulate the production of factor VIII. Patients with Cushing's syndrome often exhibit thromboembolic complications after surgery. It is likely that the clotting abnormalities responsible for such complications is the increased factor VIII activities level.

Published
1982

18. Lack of inhibitors in coumarin plasma.

Author

Girolami A, Cella G, Patrassi GM, Fabris F, Dal Bo Zanon R, and Cappellato G

Subjects
Anticoagulants pharmacology, Factor X analysis, Humans, Blood Coagulation drug effects, Coumarins pharmacology
Published
1982

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