We undertook genetic and biochemical assays in patients with arterial (n = 146) and venous (n = 199) thromboembolism and survivors of pulmonary embolism (n = 58) to study causation and gene-life style interactions. In the clinical material from North Western Russia, factor V Leiden was found to be a risk factor in venous thrombosis (OR = 3.6), while the methylenetetrahydrofolate reductase (MTHFR) C677T mutation was a significant variable in both venous (p = 0.03) and arterial thrombosis (p = 0.004). Homocysteine levels were determined (n = 84) and hyperhomocysteinemia correlated with the T allele of the MTHFR gene, and with smoking and coffee consumption. Vitamin supplementation reduced homocysteine levels dependent on MTHFR genotype (36% TT, 25% CT, 22% CC). In pulmonary embolism patients, frequency of the -455G/A beta-fibrinogen dimorphism was studied. Carriers of this allele were significantly underrepresented (p < 0.02) among pulmonary embolism survivors (34.5%) compared to controls (56.7%). Additionally, -455AA homozygotes were found in 11.7% controls but only 1.7% of pulmonary embolism patients (p = 0.006). In venous and arterial thrombosis cases, MTHFR and homocysteine data led to effective dietary supplementation with a reduced risk of disease progression. Results from the pulmonary embolism study may indicate that screening tests for the -455G/A beta-fibrinogen genetic variation could be of prognostic value, and may point the way for novel anticoagulation strategies.
Военно-медицинская академия им. С. м. кирова, Санкт-петербург, Россия 2 Ставропольский государственный медицинский университет, Россия 3 Северо-Западный государственный медицинский университет им. И. И. мечникова, Санкт-петербург, Россия 4 Федеральное бюро медико-социальной экспертизы, москва, Россия muscle acTiViTY in paTienTs WiTh dYsfuncTion of The TismaTmouralmaliTY: The role of unifferenTiaTed connecTiVe Tissue diplasion Blinov m. s. 1 , Borodulina i. i. 1 , grebnev g. a. 1 , sirak s. V. 2 , ivanov a. s. 1 , fadeev r. a. 3 , Kozlov s. i. 4 , Kovalevsky a. m. 1 1 s. m. Kirov military medical academy, saint petersburg, russia 2 stavropol state medical university, russia 3 i. i. mechnikov north-Western state medical university, saint petersburg, russia 4 federal Bureau of medical and social expertise, moscow, russia
The aim of this work was to study the relationship between changes in blood platelet sialic acid levels and adenine nucleotide pool regulation with the parameters of platelet hemostasis (adhesive-aggregation and retractile capacity of blood plates) in chronic myeloleukemia and idiopathic myelofibrosis. The studies were performed on platelets of healthy subjects (20), patients with chronic myeloleukemia (14) and idiopathic myelofibrosis (11) with advanced clinical manifestations.
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