Results 51 to 60 of about 1,319 (189)
CONGENITAL AFIBRINOGENEMIA (CASE REPORT)
Eurasian Journal of Medicine, 2019 We report a 42 year –old man with congenital afibrinogenemia presenting with ecchymoses and hemoptysis. Moreover we describe the diagnostic importance of congenital afibrinogenemia.
Fuat Erdem +2 more
doaj
Targeted mutation of zebrafish fga models human congenital afibrinogenemia
, 2014 Mutations in the human fibrinogen genes can lead to the absence of circulating fibrinogen and cause congenital afibrinogenemia. This rare bleeding disorder is associated with a variable phenotype, which may be influenced by environment and genotype. Here,
Fish, Richard +2 more
core +1 more source
Afibrinogenemia en el embarazo
Revista Colombiana de Obstetricia y Ginecología, 1955 La literatura médica reciente nos trae un sin número de estudios sobre la diátesis hemorrágica que en algunos casos de embarazo se presenta, producida por el síndrome de "Afibrinogenemia adquirida" y que se asocia principalmente a tres entidades ...
Rafael Quiñones Daza
doaj +1 more source
Nonketotic hyperosmolar coma associated with splenic rupture in congenital afibrinogenemia
, 2004 Nonketotic hyperosmolar coma is uncommon in children. Splenic rupture in congenital afibrinogenemia is also a rare event. The authors described a 5-year-old girl with congenital afibrinogenemia who presented with nonketotic hyperosmolar coma associated ...
Patiroglu, Türkan +4 more
core +1 more source
Molecular Genetics &Genomic Medicine, Volume 12, Issue 8, August 2024.This study describes a rare autosomal recessive disorder with paternal uniparental disomy of chromosome 4 leading to the homozygosity of the α‐L‐iduronidase (IDUA) splicing variant in patients with mucopolysaccharidosis type I for the first time.
Lulu Yan +5 more
wiley +1 more source
, 2020 Fibrinogen is a complex protein playing a major role in coagulation. Congenital afibrinogenemia, characterized by the complete absence of fibrinogen, is associated with major hemostatic defects. Even though the clinical course is unpredictable and can be
De Moerloose, Philippe +2 more
core +1 more source
Haemophilia, Volume 30, Issue 4, Page 981-987, July 2024.Abstract Introduction In the context of severe unexplained haemorrhage (SH), it is usual to seek haematological evaluation and investigate for an inherited rare bleeding disorder (IRBD). In such circumstances, appropriate screen can discriminate between IRBD and suspected child abuse.
Sandrine Meunier +9 more
wiley +1 more source
Hemorragia intracraniana espontânea em paciente com afibrinogenemia congênita
, 2014 Paciente com afibrinogenemia congênita, diagnosticada aos quatro meses de idade, permaneceu assintomática até os quatro anos. Nessa ocasião, foi admitida no setor de emergência e diagnosticada inicialmente com enxaqueca, sendo posteriormente ...
C. dos Reis, Elisa +4 more
core +1 more source
Brazilian Journal of Medical and Biological Research, 2002 The venom of Lonomia obliqua caterpillar may induce a hemorrhagic syndrome in humans, and blood incoagulability by afibrinogenemia when intravenously injected in laboratory animals. The possible antithrombotic and thrombolytic activities of L.
B.C. Prezoto +4 more
doaj +1 more source
Oral surgery in people with inherited bleeding disorder: A retrospective study
Haemophilia, Volume 30, Issue 4, Page 943-949, July 2024.Abstract Introduction The objectives were to describe the peri‐operative management of people with inherited bleeding disorders in oral surgery and to investigate the association between type of surgery and risk of developing bleeding complications. Materials and Methods This retrospective observational study included patients with haemophilia A or B ...
Emma Fribourg +6 more
wiley +1 more source