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Titolo:
Homozygous patients with the 20210 G to A prothrombin polymorphism remain often asymptomatic in spite of the presence of associated risk factors
Autore:
Girolami, A; Scarano, L; Tormene, D; Cella, G;
Indirizzi:
Univ Padua, Sch Med, Dept Med & Surg Sci, Chair Med 2, Padua, Italy Univ Padua Padua Italy , Dept Med & Surg Sci, Chair Med 2, Padua, Italy
Titolo Testata:
CLINICAL AND APPLIED THROMBOSIS-HEMOSTASIS
fascicolo: 2, volume: 7, anno: 2001,
pagine: 122 - 125
SICI:
1076-0296(200104)7:2<122:HPWT2G>2.0.ZU;2-A
Fonte:
ISI
Lingua:
ENG
Soggetto:
FACTOR-V-LEIDEN; VENOUS THROMBOSIS; 3'-UNTRANSLATED REGION; GENE MUTATION; THROMBOEMBOLIC EVENTS; NT-20210 G; VARIANT; FAMILY; THROMBOPHILIA; DISEASE;
Keywords:
congenital thrombophilia; hypercoagulability; polymorphisms; thrombosis;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
27
Recensione:
Indirizzi per estratti:
Indirizzo: Girolami, A Inst Med Semeiot, Via Osped Civile 105, I-35100 Padua, Italy Inst Med Semeiot Via Osped Civile 105 Padua Italy I-35100 aly
Citazione:
A. Girolami et al., "Homozygous patients with the 20210 G to A prothrombin polymorphism remain often asymptomatic in spite of the presence of associated risk factors", CL APPL T-H, 7(2), 2001, pp. 122-125

Abstract

Patients who are homozygous for the G to A non-translated prothrombin polymorphism only occasionally have venous thrombosis. An evaluation of all published papers on the subjects has disclosed that nine patients of the 35 sofar reported remained asymptomatic in spite of the presence of associated congenital or acquired thrombotic risk factors. We saw an additional patient recently, bringing the total to 10 of 36 patients. Some of these patientsremained asymptomatic in spite of multiple or repetitive risk factors (e.g., five pregnancies in the case of one patient). Twelve patients who were homozygous and who had this polymorphism developed symptoms only in the presence of the same risk factors. This may suggest that this abnormality played a small role, if any, in both groups of patients. The finding that several patients with this abnormality remained asymptomatic in spite of associated risk factors casts serious doubts about the prothrombotic significance of this polymorphism. Until this problem is clarified, the clinician must abstain from attributing a prothrombotic effect to this polymorphism.

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Documento generato il 05/04/20 alle ore 00:28:52