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A new hereditary PROS1 gene mutation caused isolated cortical venous thrombosis.

Thromb Res

February 2025

Department of Neurology, Fujian Institute of Geriatrics, Fujian Medical University Union Hospital, Fuzhou, Fujian, China. Electronic address:

Background: Protein S deficiency is a rare inherited disease. We report the case of a young man who unexpectedly developed isolated cortical vein thrombosis (ICoVT) associated with a novel PROS1 mutation.

Methods: Clinical symptoms were recorded, and physical examinations conducted.

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Changes in Serum Proteins in Cats with Obesity: A Proteomic Approach.

Animals (Basel)

January 2025

Interdisciplinary Laboratory of Clinical Analysis Interlab-UMU, Regional Campus of International Excellence 'Campus Mare Nostrum', University of Murcia, Campus de Espinardo s/n, Espinardo, 30100 Murcia, Spain.

Obesity is defined as the excessive accumulation of adipose tissue and is currently the most common disease in cats. Similarly to humans, obesity negatively impacts the health and welfare of cats, predisposing them to many other disorders. The objective of this study was to compare the serum proteomes of normal-weight and overweight/obese cats, aiming to gain insights into the physiopathology of feline obesity and potentially identify new biomarkers.

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Modulation of Haemostatic Balance in Combined von Willebrand Disease and Antithrombin Deficiency: A Comprehensive Family Study.

Haemophilia

December 2024

Institute of Experimental Hematology and Transfusion Medicine, Medical Faculty, University Hospital Bonn, University of Bonn, Bonn, Germany.

Introduction: Maintaining the balance between procoagulant and anticoagulant factors is essential for effective haemostasis. Emerging evidence suggests a modulation of bleeding tendency by factors in the anticoagulant and fibrinolytic systems.

Aim: This study investigates the clinical and laboratory characteristics of a family with combined von Willebrand disease (VWD) and antithrombin (AT) deficiency.

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[Hereditary protein S deficiency in a patient with prominent mesenteric venous thrombosis: A case report].

Beijing Da Xue Xue Bao Yi Xue Ban

December 2024

Department of Rheumatology and Immunology, Peking University Third Hospital, Beijing 100191, China.

Hereditary protein S deficiency (PSD) is an autosomal dominant disorder caused by mutations in the 1 gene which can cause venous thrombosis. Individuals with PSD usually present with recurrent deep vein thrombosis and/or pulmonary embolism, but thrombosis may occur at unusual sites, such as the mesenteric and portal veins. Here we report a case of hereditary protein S deficiency patient with predominant mesenteric venous thrombosis.

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Article Synopsis
  • * A case study of a 39-year-old man with a history of blood clots showed that continuous treatment with rivaroxaban led to rapid improvement and no clots returning over a 15-month period.
  • * This case suggests that rivaroxaban could be an effective option for managing and preventing blood clots in patients with congenital antithrombin deficiency who have severe thrombosis.
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