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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.
Clinical implications of genetic testing for congenital protein C deficiency in pregnancy.
J Obstet Gynaecol Res
December 2024
Nara Medical University, Department of obstetrics and gynecology, Kashihara, Nara, Japan.
Congenital protein C (PC) deficiency is a mostly autosomal dominant hereditary thrombophilia associated with early onset arterial and venous thrombotic diseases. In newborns, PC deficiency results in severe complications such as cerebral hemorrhage, cerebral infarction, and purpura fulminans, leading to death in some cases. We report two cases of deep vein thrombosis diagnosed during pregnancy that prompted genetic testing confirming definitive congenital PC deficiency.
View Article and Find Full Text PDFClinical characteristics and thrombophilia associated gene variants in Egyptians with unprovoked venous thromboembolism: three centers experience.
Mol Biol Rep
September 2024
Hematology unit, Internal Medicine Department, Faculty of Medicine, Tanta University, Tanta, Egypt.
Background: Thrombophilias are characterized by excessive venous and arterial thrombosis at regular or unusual sites. It may result from inherited, acquired, or a combination. Hereditary thrombophilia (HT) is detected in 30-40% of patients with thromboembolism.
View Article and Find Full Text PDFJAK2-mutant clonal hematopoiesis is associated with venous thromboembolism.
Blood
November 2024
Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, MA.
Venous thromboembolism (VTE) is common among older individuals, but provoking factors are not identified in many cases. Patients with myeloid malignancies, especially myeloproliferative neoplasms (MPNs), are at increased risk for venous thrombosis. Clonal hematopoiesis of indeterminate potential (CHIP), a precursor state to myeloid malignancies, is common among older individuals and may similarly predispose to venous thrombosis.
View Article and Find Full Text PDFHereditary Antithrombin Deficiency Presenting with Cerebral Venous Thrombosis in Three Members of a Family.
Neurol India
November 2023
Department of Radiology, Meitra Hospital, Edakkad PO, Calicut, Kerala, India.
Hereditary antithrombin (AT) deficiency is a rare thrombophilia associated with cerebral vein thrombosis (CVT). We report a case study of hereditary AT deficiency causing CVT in three members of a family. A 29-year-old female presented with features of CVT.
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