Cellular Basis for the Pleiotropic Effects-Type Antithrombin III Deficiency

Molecular basis for antithrombin III type I deficiency: three novel mutations located in exon IV.

Antithrombin III (AT III) type I deficiencies are characterized by a 50% decrease of both immunoreactive and functional protein and carry a high risk of thrombotic complication. We have studied the molecular basis for such deficiencies by asymmetric polymerase chain reaction amplification and direct sequencing of the seven exons and of the intron-exon junction of the AT III gene. Three differen...

Molecular basis of antithrombin deficiency.

Antithrombin (AT) is the most important physiological inhibitor of coagulation proteases. It is activated by glycosaminoglycans such as heparin. Hereditary antithrombin deficiency is a rare disease that is mainly associated with venous thromboembolism. So far, more than 200 different mutations in the antithrombin gene (SERPINC1) have been described. The aim of our study was to characterise the ...

Mesenteric venous thrombosis and antithrombin III deficiency.

Of the 123 patients with acute mesenteric infarction treated over the past 12 years, 16 (13%) had mesenteric venous thrombosis. Eight of the patients with mesenteric venous thrombosis survived the initial episode; two have since died. The remaining six patients were studied for evidence of haemostatic deficiencies or abnormalities. Antithrombin III deficiency, which is known to be associated wi...

Antithrombin-III deficiency in ischemic stroke.

Antithrombin III deficiency, hypertriglyceridaemia, and venous thromboses.

By using the "vacuum consolidation" technique1 2 an exact replica of the limb can be made, around which an effective splint can be moulded without causing unnecessary pain. This uses an airtight plastic bag containing Fillite-a very fine particle, the byproduct of ash produced in electricity generating stations. It is fitted with a filtered outlet tube and attached to a vacuum source.3 The chil...