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Genetic analysis of a pedigree with hereditary coagulation factor XII deficiency.
Ann Hematol
January 2025
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, Zhejiang, China.
Analyze the clinical phenotype and gene mutations of a family with hereditary FXII deficiency, and preliminarily explore its phenotypic manifestations. The routine coagulation indicators and related coagulation factors were measured.Thromboelastography and thrombin generation tests simulated coagulation and anticoagulation states in vitro and in vivo.
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 PDFRare Prekallikrein Deficiency Identified During Workup of Isolated Prolonged Activated Partial Thromboplastin Time.
Ochsner J
January 2024
Department of Hematology and Hematopoietic Cell Transplantation, City of Hope National Medical Center, Irvine, CA.
Prolongation of the activated partial thromboplastin time (aPTT) may signify an intrinsic factor deficiency or the presence of an inhibitor of coagulation, potentially placing a patient at increased risk for bleeding. However, a contact factor (ie, factor XII, prekallikrein, and high molecular weight kininogen) deficiency, which may also cause a prolonged aPTT, is not associated with clinical bleeding. A 71-year-old female had an isolated prolonged aPTT discovered during preoperative laboratory testing.
View Article and Find Full Text PDFMolecular mechanism analysis of a family with hereditary coagulation FXI deficiency caused by compound heterozygous mutations.
Blood Coagul Fibrinolysis
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, Zhejiang, China.
Objective: The purpose of this study was to determine the molecular basis of a Chinese family with factor XI (FXI) deficiency.
Methods: The qRT-PCR was used to detect the transcription of F11 mRNA in transfected cells. ELISAs and western blot were used to detect the expression of FXI protein in culture media and lysates.
A mechanistic model of in vitro plasma activation to evaluate therapeutic kallikrein-kinin system inhibitors.
PLoS Comput Biol
November 2024
CSL Ltd, Bio21 Institute, Melbourne, Victoria, Australia.
Background: The kallikrein-kinin system (KKS) is a complex biochemical pathway that plays a crucial role in regulating several physiological processes, including inflammation, coagulation, and blood pressure. Dysregulation of the KKS has been associated with several pathological conditions such as hereditary angioedema (HAE), hypertension, and stroke. Developing an accurate quantitative model of the KKS may provide a better understanding of its role in health and disease and facilitate the rapid and targeted development of effective therapies for KKS-related disorders.
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