Results 11 to 20 of about 1,227 (170)

Diagnostic utility of bleeding assessment tools in congenital fibrinogen deficiencies [PDF]

Haemophilia, Volume 29, Issue 3, Page 827-835, May 2023., 2023
Background: The assessment of clinical history is crucial before referring a patient for further laboratory testing. Bleeding assessment tools (BAT) are developed to standardize clinical evaluation.
Azarkeivan, Azita, Baghaipour, Mohammad Reza, Jazebi, Mohammad, Menegatti, Marzia, Moazezi, Somayeh, Mohsenian, Samin, Palla, Roberta, Peyvandi, Flora, Seidizadeh, Omid   +8 more
core   +2 more sources

Efficacy and safety of fibrinogen concentrate for perioperative prophylaxis of bleeding in adult, adolescent, and pediatric patients with congenital fibrinogen deficiency: FORMA‐02 and FORMA‐04 clinical trials [PDF]

Transfusion, Volume 62, Issue 9, Page 1871-1881, September 2022., 2022
Background: Congenital fibrinogen deficiency (CFD) is a rare coagulation disorder placing patients at increased bleeding risk. Human fibrinogen concentrate (HFC) represents current standard of care for fibrinogen replacement in CFD, however, limited data
Khayat, Claudia Djambas, Kruzhkova, Irina, Lohade, Sunil, Peyvandi, Flora, Solomon, Cristina, Zekavat, Omid Reza   +5 more
core   +2 more sources

Congenital afibrinogenemia in a newborn

Sanamed, 2022
Introduction: Congenital afibrinogenemia is a rare coagulation disorder characterized by a deficiency in the fibrinogen molecule. Fibrinogen is a hexameric glycoprotein consisting of a polypeptide chain encoded by FGB, FGA, and FGG and is required for ...
Özay Mustafa, Kara Mustafa, Keskin Zuhal   +2 more
doaj   +3 more sources

Impaired factor XIII activation in patients with congenital afibrinogenemia. [PDF]

Haematologica, 2019
Bridey F, Négrier C, Duval C, Ariëns R, de Moerloose P, Casini A.   +5 more
europepmc   +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
Xie X, Du J, Geng S, Yi B, Li Q, Zuo J.
europepmc   +2 more sources

A Rare Complication of Congenital Afibrinogenemia: Bone Cysts. [PDF]

Turk J Haematol, 2017
Fettah A, Gürlek Gökçebay D, Çulha V, Yaralı N, Tunç B, Özbek N.   +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

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

Congenital Afibrinogenemia With Facial Haematoma. [PDF]

Cureus
Congenital afibrinogenemia is a rare inherited blood disorder characterized by a deficiency of fibrinogen, leading to abnormal blood clotting. It is caused by mutations in fibrinogen genes and results in a propensity for bleeding. We present the case of a one-year-old male child with congenital afibrinogenemia who developed a left-sided facial ...
Hassan M, Khan M, Ghulam M, Anthony N, Khan M.   +4 more
europepmc   +3 more sources