ABSTRACT
Pathogenetic mechanisms of the development of antiphospholipid syndrome (APS) are considered in the article, which is the basis for the development of clinical manifestations and laboratory markers of APS. The modern literature data are analyzed, according to which the presence of antiphospholipid antibodies is a hypercoagulable background, and the formation of thrombi occurs under the influence of other allowing procoagulation factors. The classification of the main types of hereditary thrombophilia is given, which is the primary disorder, against the background of which an autoimmune thrombosis APS develops. A clinical observation of a young age patient is given, whose heterozygous carriage of mutations in the genes responsible for blood coagulation (F7, PAI-1 and ITGB3-ß-integrin), as well as homozygous carriage of a mutation in the MTRR gene associated with a violation of homocysteine methylation, APS was developed, which led to the processes of thrombosis. Timely diagnosis and individually developed pathogenetic therapy allow avoiding life-threatening complications of APS and improving the patients' quality of life. A conclusion about the need for APS and hereditary thrombophilias' examination to all patients of young age with unprovoked thrombosis of deep veins of lower extremities and PE was made.
Subject(s)
Antiphospholipid Syndrome/genetics , Factor VII/genetics , Ferredoxin-NADP Reductase/genetics , Integrin beta3/genetics , Plasminogen Activator Inhibitor 1/genetics , Adult , Antiphospholipid Syndrome/physiopathology , Heterozygote , Homozygote , Humans , Male , MutationABSTRACT
We studied the level of osteocalcin and its relationships with carbohydrate metabolism and clinical and radiographic changes in patients with osteoarthritis (OA) and type 2 diabetes mellitus (DM 2) and their combination. Significant negative correlation between the level of osteocalcin and carbohydrate metabolism, and clinical and radiographic changes in patients with OA and DM 2 was found. We determined, that negative correlation of osteocalcin with carbohydrate metabolism and radiographic changes, and more pronounced pain in OA maybe an indication that the lack of production of osteocalcin leads to more severe changes during the OA on the background of DM 2 diabetes mellitus.
