Results 11 to 20 of about 887 (167)

Diagnosing and Managing Paradoxical Deep Vein Thrombosis in a Patient With Congenital Afibrinogenemia [PDF]

eJHaem
Congenital afibrinogenemia, classically a bleeding disorder, can paradoxically predispose to thrombosis, potentially due to disruptions in fibrin‐mediated thrombin clearance and plasmin activation.
Altamash Jawadi, Malik Alqawasmi, Mahmoud Abdelsamia, Hemza Assed, Mohammad Adawee, Mohammad Badawy, Xuan Thuy T. Nguyen, Andres E. Mindiola Romero, Allison Burnett, Ala Ebaid   +9 more
doaj   +3 more sources

Congenital Afibrinogenemia and Hypofibrinogenemia: Laboratory and Genetic Testing in Rare Bleeding Disorders with Life-Threatening Clinical Manifestations and Challenging Management [PDF]

Diagnostics, 2021
Congenital fibrinogen disorders are rare pathologies of the hemostasis, comprising quantitative (afibrinogenemia, hypofibrinogenemia) and qualitative (dysfibrinogenemia and hypodysfibrinogenemia) disorders. The clinical phenotype is highly heterogeneous,
Tomáš Šimurda, Rosanna Asselta, Jana Zolkova   +2 more
exaly   +4 more sources

The thrombotic paradox in congenital fibrinogen deficiencies: from pathophysiology to practice [PDF]

Research and Practice in Thrombosis and Haemostasis
Congenital fibrinogen deficiencies (CFDs) comprise rare inherited disorders characterized by quantitative (afibrinogenemia, hypofibrinogenemia) or qualitative (dysfibrinogenemia, hypodysfibrinogenemia) abnormalities of fibrinogen.
Samin Mohsenian, Alessandro Casini, Flora Peyvandi   +2 more
doaj   +2 more sources

A case of congenital afibrinogenemia with multiple thrombotic and hemorrhagic disorders [PDF]

Clinical Case Reports, 2022
This is a case of congenital afibrinogenemia with multiple thrombotic and hemorrhagic events. His fibrinogen concentration was negatively correlated with thrombin time and prothrombin time and abnormally negatively correlated with plasma D‐dimer levels ...
Lijian Wei, Yuting Tang, Zhuohua Wu, Pingyi Xu, Mingshu Mo   +4 more
doaj   +2 more sources

A novel mutation in the FGG gene causes hypofibrinogenemia in a Chinese family [PDF]

Hereditas
Congenital fibrinogen disorders are a group of coagulation deficiencies caused by fibrinogen defects and are divided into four types, including afibrinogenemia, hypofibrinogenemia, dysfibrinogenemia, and hypodysfibrinogenemia. In this study, we collected
Xiaoying Xie, Juan Du, Shunkang Geng, Baoqin Yi, Qingpu Li, Jiangcheng Zuo   +5 more
doaj   +2 more sources

Clinical, biological, and genetic features in an afibrinogenemia patient series in Algeria [PDF]

Haemophilia, 2022
Philippe De Mazancourt, Tristan Mirault, Anne-Marie Fischer   +2 more
exaly   +2 more sources

The β-Chain Mutation p.Arg17Stop Impairs Fibrinogen Synthesis and Secretion: A Nonsense Mutation Associated With Hypofibrinogenemia. [PDF]

J Clin Lab Anal
We reported the first case of a FGB p.Arg17Stop mutation with a heterozygous gene status, and conducted research on the pathogenic mechanisms related to the fibrinogen Bβ (p.Arg17Stop) mutation. This mutation significantly impairs both the synthesis and secretion of fibrinogen.
Qian C, Huang C, Luo Q, Qin K, Wu Y, Liao L, Zhang Q, Xiang L, Yan J.   +8 more
europepmc   +2 more sources

PB2654: RARE BLEEDING DISORDERS: LONG-TERM EXPERIENCE FROM A HEMOPHILIA CENTER [PDF]

Hemasphere, 2023
HemaSphere, Volume 7, Issue S3, August 2023.
Meimaridis A, Chissan S, Kotsiou N, Gavriilaki E, Moka E, Vakalopoulou S.   +5 more
europepmc   +2 more sources

Correction to "A Case of Congenital Afibrinogenemia With Multiple Thrombotic and Hemorrhagic Disorders". [PDF]

Clin Case Rep
Clinical Case Reports, Volume 12, Issue 11, November 2024.
europepmc   +2 more sources

Hereditary afibrinogenemia: A literature review and clinical observations [PDF]

Терапевтический архив, 2016
Afibrinogenemia is a rare congenital coagulopathy that leads to life-threatening bleeding. In afibrinogenemia, plasma fibrinogen levels are less than 0.1 g/L.
E V Yakovleva, V L Surin, D S Selivanova, A M Sergeeva, M V Gonсharova, E Yu Demidova, N P Soboleva, S A Makhinya, A V Dezhenkova, E A Likhacheva, N I Zozulya   +10 more
doaj   +1 more source