Publications by authors named "Marianna Speker"
Article Synopsis
- Atresia of the inferior vena cava (IVC) is a rare congenital condition linked to a high risk of blood clots, possibly due to thrombosis occurring during fetal development.
- A study evaluated the connection between IVC atresia and severe thrombophilia, particularly in patients with the homozygous SERPINC1 variant, identifying IVC abnormalities in 70.8% of those analyzed.
- The findings suggest that a thrombosis in fetal vessels might cause IVC atresia, prompting further research into the relationship between severe thrombophilia and this vascular defect.
Antithrombin (AT) is one of the most important regulator of hemostasis. AT Budapest 3 (ATBp3) is a prevalent type II heparin-binding site (IIHBS) deficiency due to founder effect. Thrombosis is a complex disease including arterial (ATE) and venous thrombotic events (VTE) and the Roma population, the largest ethnic minority in Europe has increased susceptibility to these diseases partly due to their unfavorable genetic load.
View Article and Find Full Text PDFVenous thrombosis is a typical common complex disease as acquired and genetic causes play a role in its development. The different "loss of function" mutations of the natural anticoagulant system lead to antithrombin (AT), protein C (PC) and protein S (PS) deficiencies. Since thrombophilia testing has high cost and it has several methodological issues (analytical, pre-analytical), which makes the interpretation of results difficult, considerations should be made on the indications of testing, on the parameters that are measured and on the best available method to use.
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