A functionally normal but structurally abnormal prothrombin variant was found in a Mexican family. Immunoisoelectricfocusing studies revealed that this variant has a more acidic isoelectric point (4.01) than normal prothrombin (4.29), but it proved to have a normal molecular weight as assessed by sodium-dodecyl-sulphate polyacrylamide gel electrophoresis. Two-dimensional immunoelectrophoresis studies showed an abnormal cleavage of the prothrombin molecule by factor Xa and Echis carinatus venom as well, despite the fact that both yield functionally normal thrombin molecules. Finally, the ability of the molecule to bind calcium ions as well as its overall antigenic structure were investigated and found to be normal. These results taken together suggest a simple (substitution or translocation) mutation at the fragment 2 level. Since this prothrombin variant is different from others described previously, the name "Mexico City" is proposed to identify it.
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http://dx.doi.org/10.1002/ajh.2830240302 | DOI Listing |
Front Pediatr
January 2025
Department of Gastroenterology, Kunming Children's Hospital, Kunming, China.
Background: The diagnostic criteria of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) have not been established due to non-specific clinical manifestations, and our understanding on the treatment outcome is still limited. We aim to investigate the biochemical characteristics, genetic variants, and treatment outcome of NICCD patients.
Methods: We compared the nutritional status and biochemical characteristics of 55 NICCD infants and 27 idiopathic neonatal cholestasis (INC) infants.
Pharmaceuticals (Basel)
January 2025
Laboratory of Toxinology and Cardiovascular Research, University of Western São Paulo (UNOESTE), Presidente Prudente 19050-680, SP, Brazil.
We compared the enzymatic, coagulant, and neuromuscular activities of two variants (yellow-CDRy and white-CDRw) of venom with a sample of (CDT) venom and examined their neutralization by antivenom against CDT venom. The venoms were screened for enzymatic and coagulant activities using standard assays, and electrophoretic profiles were compared by SDS-PAGE. Neutralization was assessed by preincubating venoms with crotalic antivenom and assaying the residual activity.
View Article and Find Full Text PDFInfect Drug Resist
January 2025
Department of Thoracic Medicine, Chang Gung Memorial Hospital, Linkuo, Taiwan.
Objective: Early reports have indicated that the Omicron variant of coronavirus disease 2019 (COVID-19) may be associated with low mortality. However, the mortality rate of critical patients in Taiwan with COVID-19 caused by different variants has not been well described.
Methods: This retrospective cohort study was conducted at the Linkou Branch of Chang Gung Memorial Hospital, Taiwan, from April 2020 to September 2022.
J Thromb Haemost
January 2025
Department of Cardiovascular Diseases, University Hospitals Leuven, Leuven, Belgium; Center for Molecular and Vascular Biology, Department of Cardiovascular Sciences, KU Leuven, Leuven, Belgium.
Background: Conventional tests for inherited thrombophilia focus on the five most-established inherited thrombophilias; i.e. deficiencies in antithrombin, protein C, and protein S, and the factor V Leiden and prothrombin G20210A variants.
View Article and Find Full Text PDFZhongguo 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.
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