Results 21 to 30 of about 1,250 (185)

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

Real‐World Experience with a Human Fibrinogen Concentrate: Clinical Data from Adult and Pediatric Patients Requiring Fibrinogen for Bleeding Control and Prevention

The Journal of Clinical Pharmacology, Volume 63, Issue 11, Page 1186-1196, November 2023., 2023
Abstract Human fibrinogen concentrate (Fibryga) received temporary approval for fibrinogen replacement therapy in France (2017), with subsequent full approval for congenital and acquired hypofibrinogenemia. We evaluated real‐world use for on‐demand treatment of bleeding and prophylaxis to enhance our knowledge on fibrinogen concentrate as an option for
Francois Stéphan, Loriane Gutermann, Stéphanie Bourget, Sarah Djabarouti, Johanna Berdugo, Yann Fardini, Pierre Clerson, Guillaume Hébert, Chafké Belmokhtar   +8 more
wiley   +1 more source

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

A Case of Congenital Afibrinogenemia [PDF]

Blood, 1957
Abstract 1. A case of congenital afibrinogenemia of a Sinhalese boy of 22 years is reported. 2. The main features of the reported cases are reviewed. 3. The principal features of this case are total absence of fibrinogen in the blood, complete non-coagulability of blood, history of several episodes of ...
P B, FERNANDO, B D, DHARMASENA
openaire   +2 more sources

Congenital fibrinogen disorders: Strengthening genotype–phenotype correlations through novel genetic diagnostic tools

British Journal of Haematology, Volume 203, Issue 3, Page 355-368, November 2023., 2023
Summary Congenital fibrinogen disorders or CFDs are heterogenous, both in clinical manifestation and array of culprit molecular lesions. Correlations between phenotype and genotype remain poorly defined. This review examines the genetic landscape discovered to date for this rare condition.
Radha Ramanan, James D. McFadyen, Andrew C. Perkins, Huyen A. Tran   +3 more
wiley   +1 more source

Isolated scalp hematoma: An unusual presentation of congenital afibrinogenemia

Indian Pediatrics Case Reports, 2023
Background: Congenital fibrinogen disorder is a rare autosomal recessive blood coagulation disorder, where majority of patients present with bleeding, whereas a few may paradoxically develop thrombosis.
Arnab Ghorui, Chandra Mohan Kumar, Amrita Banerjee   +2 more
doaj   +1 more source

Comparison of coagulation parameters associated with fibrinogen concentrate and cryoprecipitate for treatment of bleeding in patients undergoing cytoreductive surgery for pseudomyxoma peritonei: Subanalysis from a randomized, controlled phase 2 study

Health Science Reports, Volume 6, Issue 9, September 2023., 2023
Abstract Background and Aims The FORMA‐05 study compared the efficacy and safety of human fibrinogen concentrate (HFC) versus cryoprecipitate for hemostasis in bleeding patients undergoing cytoreductive surgery for pseudomyxoma peritonei (PMP). This subanalysis explores coagulation parameters in the FORMA‐05 patients, with a focus on the seven patients
Ashok Roy, Nigel Sargant, John Bell, Sophia Stanford, Cristina Solomon, Irina Kruzhkova, Sigurd Knaub, Faheez Mohamed   +7 more
wiley   +1 more source

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