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Clinical and Genetic characterization of 51 Patients with Congenital Fibrinogen Disorders from China.
Thromb Haemost
January 2025
Union Hospital of Huazhong University of Science & Technology, Institute of Hematology, Wuhan, China.
Objective To investigate the classification, clinical manifestations, laboratory findings, and genetic mutations associated with hereditary fibrinogen disorders in Chinese population. Methods Between February 2015 and February 2022, 65 patients with congenital fibrinogen disorders (CFD) were identified at Wuhan Union Hospital. Comprehensive data were available for 51 patients, allowing for a retrospective analysis.
View Article and Find Full Text PDFCharacteristics, risk factors and a risk prediction model of tocilizumab-induced hypofibrinogenemia: a retrospective real-world study of inpatients.
BMC Pharmacol Toxicol
January 2025
Department of Pharmacy, Medical Supplies Center of Chinese PLA General Hospital, 28 Fu Xing Road, Beijing, 100853, China.
Objective: The occurrence of hypofibrinogenemia after tocilizumab treatment has attracted increasing attention, which may cause bleeding and even life-threatening. This study aims to explore the risk factors for tocilizumab-induced hypofibrinogenemia (T-HFIB) and construct a risk prediction model.
Methods: A total of 221 inpatients that received tocilizumab from 2015 to 2023 were retrospectively collected and divided into T-HFIB group or control group.
How I treat quantitative fibrinogen disorders.
Blood
December 2024
Hôpitaux Universitaire de Genève, Geneva, Switzerland.
Quantitative fibrinogen disorders, including afibrinogenemia and hypofibrinogenemia, are defined by the complete absence or reduction of fibrinogen, respectively. The diagnosis is based on the measurement of fibrinogen activity and antigen levels, which define the severity of this monogenic disorder. Afibrinogenemia is the result of homozygosity or combined heterozygosity for the causative mutations, whereas monoallelic mutations lead to hypofibrinogenemia.
View Article and Find Full Text PDFThe β-Chain Mutation p.Arg17Stop Impairs Fibrinogen Synthesis and Secretion: A Nonsense Mutation Associated With Hypofibrinogenemia.
J Clin Lab Anal
December 2024
Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Key Laboratory of Clinical Laboratory Medicine of Guangxi Department of Education, Nanning, Guangxi Zhuang Autonomous Region, People's Republic of China.
Background: Congenital hypofibrinogenemia, a quantitative fibrinogen disorder, is characterized by abnormally low levels of both functional and antigen fibrinogen. We identified a heterozygous nonsense mutation, p.Arg17Stop, in the fibrinogen Bβ chain of a three-month-old female infant.
View Article and Find Full Text PDF[Congenital dysfibrinogenemia: current status and challenges in diagnosis and treatment].
Zhonghua Xue Ye Xue Za Zhi
October 2024
Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing 100730, China.
Congenital dysfibrinogenemia (CDF) is the most common type of congenital fibrinogen disorders, characterized by dysfunctional fibrinogen. Its prevalence is significantly underestimated due to the absence of obvious clinical symptoms in most patients. In addition to bleeding manifestations, patients with CDF may experience thrombotic events or pregnancy-related complications.
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