title: [The mutation of genes of hemostasis system in patients with venous cerebral angiodystonia against the background of connective tissue dysplasia].
abstract: The examination was applied to sampling of 238 patients of younger age with neurologic symptomatology under connective tissue dysplasia and 46 healthy persons. The venous cerebral angiodystonia was diagnosed in 153 (64.3%) patients with connective tissue dysplasia. The results are confirmed by duplex analysis of cerebral and vertebral vessels. The mutations of genes of blood coagulation system (FV Leiden, FII, MTHFR, FVII and PAI-1) are established. They include combined (61.4%) and independent (23.5%) groups of mutation. Alongside with it, in 23 (19.6%) patients disorders of hemostasis are presented as von Willebrand factor deficiency and in 105 (89.7%) patients as decrease of aggregation function of thrombocytes and disorders of final coagulation stage of blood coagulation. The results of study indicate the equally frequent risk of thrombotic and hemorrhagic complications in patients with connective tissue dysplasia.
authors.forename: E F
authors.initials: EF
authors.lastname: Kotovshchikova
authors.forename: E I
authors.initials: EI
authors.lastname: Buevich
authors.forename: E V
authors.initials: EV
authors.lastname: Pen'kova
authors.forename: V P
authors.initials: VP
authors.lastname: Kulikov
authors.forename: V F
authors.initials: VF
authors.lastname: Chudimov
authors.forename: E N
authors.initials: EN
authors.lastname: Siul'zhina
authors.forename: I V
authors.initials: IV
authors.lastname: Bogdanova
authors.forename: A P
authors.initials: AP
authors.lastname: Bochkarev
mesh_terms: D000293:Adolescent; D000328:Adult; D001777:Blood Coagulation / Q000235:genetics*; D001779:Blood Coagulation Factors / Q000235:genetics / Q000378:metabolism; D001792:Blood Platelets / Q000378:metabolism / Q000473:pathology; D002561:Cerebrovascular Disorders / Q000097:blood / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003240:Connective Tissue Diseases / Q000097:blood / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D005260:Female; D006470:Hemorrhage / Q000097:blood / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D006487:Hemostasis / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010974:Platelet Aggregation / Q000235:genetics*; D013927:Thrombosis / Q000097:blood / Q000175:diagnosis / Q000235:genetics / Q000473:pathology
chemical_list: D001779:Blood Coagulation Factors