Results 31 to 40 of about 239,927 (172)

A homozygous duplication of the FGG exon 8-intron 8 junction causes congenital afibrinogenemia. Lessons learned from the study of a large consanguineous Turkish family

Haematologica, 2021
Congenital afibrinogenemia is the most severe congenital fibrinogen disorder, characterized by undetectable fibrinogen in circulation. Causative mutations can be divided into two main classes: null mutations with no protein production at all and ...
Michel Guipponi, Frédéric Masclaux, Frédérique Sloan-Béna, Corinne Di Sanza, Namik Özbek, Flora Peyvandi, Marzia Menegatti, Alessandro Casini, Baris Malbora, Marguerite Neerman-Arbez   +9 more
doaj   +1 more source

Management of rare inherited bleeding disorders: Proposals of the French Reference Centre on Haemophilia and Rare Coagulation Disorders

European Journal of Haematology, Volume 110, Issue 6, Page 584-601, June 2023., 2023
Abstract Introduction The rare coagulation disorders may present significant difficulties in diagnosis and management. In addition, considerable inter‐individual variation in bleeding phenotype is observed amongst affected individuals, making the bleeding risk difficult to assess in affected individuals.
Marc Trossaert, Valerie Chamouard, Christine Biron‐Andreani, Alessandro Casini, Philippe De Mazancourt, Emmanuelle De Raucourt, Nicolas Drillaud, Birgit Frotscher, Benoit Guillet, Aurelien Lebreton, Valerie Roussel‐Robert, Lucia Rugeri, Yesim Dargaud   +12 more
wiley   +1 more source

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

Diagnostic utility of bleeding assessment tools in congenital fibrinogen deficiencies

Haemophilia, Volume 29, Issue 3, Page 827-835, May 2023., 2023
Abstract 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. A small number of patients with congenital fibrinogen deficiencies (CFDs) have been evaluated with these tools without definitive results.
Samin Mohsenian, Omid Seidizadeh, Roberta Palla, Mohammad Jazebi, Azita Azarkeivan, Somayeh Moazezi, Mohammad Reza Baghaipour, Marzia Menegatti, Flora Peyvandi   +8 more
wiley   +1 more source

Coagulation Dysfunction in Patients with Liver Cirrhosis and Splenomegaly and Its Countermeasures: A Retrospective Study of 1522 Patients

Disease Markers, Volume 2023, Issue 1, 2023., 2023
Objective. Patients with cirrhosis and splenomegaly often have coagulation dysfunction which affects treatment and prognosis. This study explores the status, grading, and treatment strategies of coagulation dysfunction in patients with liver cirrhosis and splenomegaly. Methods.
Yunfu Lv, Ning Liu, Yejuan Li, Jincai Wu, Jinfang Zheng, Xinqiu Li, Min Zeng, Zhengwen Liu   +7 more
wiley   +1 more source

Congenital afibrinogenemia in a 4-year-old girl complicated with acute lymphoblastic leukemia

The Turkish Journal of Pediatrics, 2020
Background. Congenital fibrinogen deficiency is one of the rare inherited coagulation disorders. Congenital fibrinogen deficiency complicated with a hematological malignancy can be life threatening. Case.
Alper Özcan, Bahadır Samur, Şefika Akyol, Necdet Arda Erdoğmuş, Türkan Patıroğlu, Musa Karakükçü, Ekrem Ünal   +6 more
doaj   +1 more source

Congenital fibrinogen deficiency in Hemophilia Center Medical City/Baghdad

Iraqi Journal of Hematology, 2021
CONTEXT: Congenital fibrinogen deficiency is a rare inherited coagulation disorder with an estimated prevalence of 1:1,000,000 which is characterized by bleeding that varies from mild to severe and by an extremely low level or complete absence of plasma ...
Afrah A Salih, Murtadha H Ali, Mohammed J Alwan   +2 more
doaj   +1 more source

Analysis of fibrinogen concentrate pharmacokinetics and dosing for bleeds and surgery in adults, adolescents, and children with congenital afibrinogenaemia and hypofibrinogenaemia

Haemophilia, Volume 28, Issue 6, Page 1022-1032, November 2022., 2022
Abstract Introduction Congenital afibrinogenaemia and hypofibrinogenaemia are rare coagulation disorders where clotting is impaired due to a lack of fibrinogen. Consequent bleeding episodes (BEs) are treated using human fibrinogen concentrate (HFC). Aim This post‐hoc analysis compared HFC pharmacokinetics (PK) and dosing between patient age groups and ...
Claudia Djambas Khayat, Sunil D. Lohade, Omid R. Zekavat, Irina Kruzhkova, Cristina Solomon, Sigurd Knaub, Flora Peyvandi   +6 more
wiley   +1 more source

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

Afibrinogenémia congénita.

Acta Médica Portuguesa, 1998
The authors present a case of congenital afibrinogenemia. A review of the literature is made, and some aspects of this rare inherited coagulation disorder are suggested and commented on.
P Pastilha, L Coelho, T D Costa, G Deus, H Santos, A Rosa, F Barrocas, L Braga   +7 more
doaj   +1 more source