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| http://dx.doi.org/10.1016/j.htct.2020.08.007 | DOI Listing |
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Molecular and clinical characterization of two independent Chinese families with protein C deficiency.
Ann Hematol
December 2024
Department of Clinical Laboratory, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, The First Affiliated Hospital of Wenzhou Medical University, Shangcai Village, Ouhai District, Wenzhou, 325000, China.
This study aims to investigate the clinical characterization and molecular pathogenic basis of hereditary protein C (PC) deficiency in two independent Chinese families, and conduct in vitro expression studies on the newly discovered p.Trp444Arg mutation. The PC activity (PC: A) was tested using the chromogenic substrate, and PC antigen (PC: Ag) was detected via enzyme-linked immunosorbent assay (ELISA).
View Article and Find Full Text PDF[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.
View Article and Find Full Text PDFBackground: Glanzmann thrombasthenia (GT) is a rare disease with an autosomal recessive inheritance pattern. This disorder is not so uncommonly encountered in routine clinical practice and laboratory settings in Pakistan let alone in the rest of the world. To describe the bleeding phenotype of GT and treatment outcomes in over one hundred patients in north Pakistan.
View Article and Find Full Text PDFSimultaneous Pancreas and Kidney Transplantation in a Patient With Situs Inversus Abdominalis.
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Department of Surgery and Transplantation, University Hospital Zürich, Zürich, CHE.
Simultaneous pancreas and kidney transplantation (SPK) represents the most effective treatment for selected patients with type 1 diabetes and end-stage kidney disease. However, SPK is a technically complex surgical procedure and is particularly challenging in patients with anatomical variations. Situs inversus abdominalis (SIA) is a rare hereditary condition in which the abdominal organs and vessels are arranged in a mirror image of standard anatomy.
View Article and Find Full Text PDFEstrogen, progestin, and beyond: thrombotic risk and contraceptive choices.
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December 2024
Division of Hematology and Thromboembolism, Department of Medicine, McMaster University, Hamilton, Ontario, Canada.
Hormonal contraceptive therapy (estrogens and/or progestogens) includes different formulations associated with varying venous thromboembolism (VTE) risks. The thrombogenicity of combined hormonal contraceptives (CHCs) is due at least in part to multiple changes in clotting factors and the vasculature and is dependent on both estrogen dose and type of progestin. Transdermal patch and vaginal ring users have similar or higher VTE risk as combined oral contraceptive users.
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