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[Pedigree analysis of novel missense mutations causing hereditary coagulation factor Ⅴ deficiency].
Zhonghua Xue Ye Xue Za Zhi
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, Wenzhou 325015, China.
This study aimed to primarily discuss the pathogenesis of hereditary coagulation factor Ⅴ (FⅤ) deficiency in a family with a consanguineous cousin marriage. The coagulation indices of the pedigree (three generations with seven individuals) and the thrombin levels of the proband and his father were assessed. All exons of the F5 gene were analyzed with Sanger sequencing, and a new mutation was confirmed with reverse sequencing.
View Article and Find Full Text PDFDiagnosis, treatment, surgical practices and review of the literature in rare coagulation factor deficiencies.
Ital J Pediatr
January 2025
Pediatric Hematology and Oncology, SBU Sisli Hamidiye Etfal Training and Research Hospital, Istanbul, Turkey.
Background: Rare bleeding disorders (RBDs) include fibrinogen (Factor I), prothrombin (Factor II), Factor V(FV), combined Factor V and Factor VIII, Factor VII, Factor X, Factor XI, Factor XII, and Factor XIII deficiencies. This group accounts for 3-5% of all factor deficiencies. Different symptoms may occur, ranging from mild or moderate bleeding to serious and life-threatening bleeding, which may not be related to the factor level.
View Article and Find Full Text PDF[The Clinical Phenotype and Molecular Pathogenic Mechanism of a Family with Hereditary Coagulation Factor V Deficiency].
Zhongguo Shi Yan Xue Ye Xue Za Zhi
December 2024
Department of Hematology, The Second Hospital of Shanxi Medical University, Taiyuan 030000, Shanxi Province, China.
Objective: To investigate the clinical phenotype and molecular pathogenic mechanism of a hereditary coagulation factor V deficiency (FⅤD) family.
Methods: A phase I assay was used to measure coagulation factors II, V, VII, VIII, IX, X, Ⅺ, Ⅻ (FⅡ∶C, FⅤ∶C, FⅦ∶C, FⅧ∶C, FⅨ∶C, FⅩ∶C, FⅪ∶C, FⅫ∶C), activated partial thromboplastin time (APTT) and prothrombin time (PT) to determine the clinical phenotype and molecular pathogenesis of F VD. Prothrombin time (PT) were used for phenotypic identification; high-throughput exome sequencing was applied to screen the whole gene variants, and Sanger sequencing was used to verify the suspected variants in gene; MutationTaster, PolyPhen-2 bioinformatics software was used to predict the pathogenicity of the variants, ClustalX software was used to analyze the amino acid conservatism, and PyMol software was used to simulate the model of the mutant protein.
Cutaneous Microthrombosis in a Patient With Factor V Leiden Heterozygosity and Antibodies to Phosphatidylserine/Prothrombin Complex.
Cureus
December 2024
Rheumatology, St. Luke's Meridian Medical Center, Meridian, USA.
This report describes the development of recurrent cutaneous microthrombosis in a patient with the superposition of Factor V Leiden heterozygosity on a noncriteria IgM antibody to phosphatidylserine/prothrombin complex. The patient was treated with prednisone, apixaban, and rituximab and was stable off of prednisone at her last outpatient visit 22 months after the initial event. This report illustrates the challenges of dealing with multifactor thrombophilia especially when one of those factors is a noncriteria antiphospholipid antibody and reaffirms the value of testing for noncriteria antibodies when clinical findings suggest the presence of antiphospholipid antibodies but the criteria antibodies are negative.
View Article and Find Full Text PDFThe Microsurgical Resection of an Arteriovenous Malformation in a Patient with Thrombophilia: A Case Report and Literature Review.
Diagnostics (Basel)
November 2024
"Nicolae Oblu" Clinical Hospital, 700309 Iasi, Romania.
Arteriovenous malformations (AVMs) are complex vascular anomalies that can present with significant complications, including intracranial hemorrhage. This report presents the case of a 36-year-old female with Prothrombin G20210A mutation-associated thrombophilia, highlighting its potential impact on AVM pathophysiology and management. The patient presented with a right paramedian intraparenchymal frontal hematoma, left hemiparesis, and seizures.
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