Results 51 to 60 of about 1,250 (185)

Prenatal and Peripartum Management of Patients with Hypofibrinogenemia Resulted in Two Successful Deliveries [PDF]

, 2017
Fibrinogen is an essential agent involved in maintaining pregnancy and coagulation. Since inherited fibrinogen disorders introduce greater risks for conditions such as placental abruption and postpartum hemorrhage, careful prenatal and perinatal ...
Hiroshi Miyoshi, Kumi Oshima, Norifumi Tanaka, Satoshi Urabe, Yoshiki Kudo, Yuko Teraoka   +5 more
core   +3 more sources

Integrating Next‐Generation Sequencing Into Routine Molecular Diagnosis of Inherited Coagulation Factor Deficiencies: Real‐World Data From Spanish Patients

Haemophilia, Volume 31, Issue 4, Page 734-742, July 2025.
ABSTRACT Introduction Inherited coagulation factor deficiencies (ICFD) result from plasma protein deficiencies, impacting blood coagulation cascade and leading to haemorrhagic diathesis. Advancements in next‐generation sequencing (NGS) technology have enabled high‐throughput methods for molecular ICFD diagnosis.
Nina Borràs, Natàlia Comes, Lorena Ramírez, Rafael Parra, Carmen Altisent, Álvaro Lorenzo‐Vizcaya, Cristina Marzo‐Alonso, Maria‐Fernanda López‐Fernández, Mariana Canaro, María Falcón‐Rodríguez, Ángela Cortes‐Vidal, Mario A. Rios de Paz, José Antonio Rodríguez‐García, Ana Moreto‐Quintana, Perla Bandini, Carlos Hobeich, Irene Corrales, Francisco Vidal   +17 more
wiley   +1 more source

Phenotype, genotype, and laboratory assessment of congenital fibrinogen disorders:Data from the Rare Bleeding disorders in the Netherlands study [PDF]

Introduction: Congenital fibrinogen disorders (CFDs), encompassing quantitative (hypo−/afibrinogenemia) and qualitative (dysfibrinogenemia) defects, can result in bleeding or thrombotic events.
Blijlevens, Nicole M.A., Cnossen, Marjon H., den Exter, Paul L., Haisma, Bauke, Kruis, Ilmar C., Meijer, Karina, Nieuwenhuizen, Laurens, Rijpma, Sanna R., Saes, Joline L., Schols, Saskia E.M., van Es, Nick, van Heerde, Waander L.   +11 more
core   +6 more sources

Quality control of fibrinogen secretion in the molecular pathogenesis of congenital afibrinogenemia [PDF]

, 2017
Congenital afibrinogenemia is a rare bleeding disorder characterized by the absence in circulation of fibrinogen, a hexamer composed of two sets of three polypeptides (Aα, Bβ and γ).
Caille, Dorothée, de Moerloose, Philippe, Di Sanza, Corinne, Meda, Paolo, Neerman-Arbez, Marguerite, Scheib, Holger, Vu, Dung   +6 more
core  

A case of hypofibrinogenemia presenting with submental hamatoma [PDF]

, 2016
Hereditary hypofibrinogenemia is a rare disease and the usual presentation is difficult to stop bleeding or hamatoma in the muscle or intracranial space after injury. There may also be adverse pregnancy outcome, and increased tendency to throm­bosis. The
Begum, Masuda, lrshadullah, Naseeb Muhammad, Rahman, Mujahida   +2 more
core   +3 more sources

Screening method for congenital dysfibrinogenemia using clot waveform analysis with the Clauss method [PDF]

, 2021
ArticleInternational journal of laboratory hematology.
Arai, Nobuo, Arai, Shinpei, Hayashi, Fumiaki, Honda, Takayuki, Kamijo, Tomu, Okumura, Nobuo, Shinohara, Sho, Sugano, Mitsutoshi, Uehara, Takeshi   +8 more
core   +1 more source

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, Abdullah Uyanık, Mehmet Gündoğdu   +2 more
doaj  

Congenital fibrinogen disorder with a compound heterozygote possessing two novel FGB mutations, one qualitative and the other quantitative [PDF]

, 2020
ArticleThrombosis research. 196: 152-158.
Arai, Shinpei, Higuchi, yumiko, Kaido, Takahiro, Okumura, Nobuo, Taira, Chiaki, Yoda, Masahiro   +5 more
core   +1 more source

Whole paternal uniparental disomy of chromosome 4 with a novel homozygous IDUA splicing variant, c.159‐9T>A, in a Chinese patient with mucopolysaccharidosis type I

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, Shuxia Ding, Yan He, Bin Fu, Changshui Chen, Haibo Li   +5 more
wiley   +1 more source

Severe haemorrhages leading to a diagnosis of rare bleeding disorder occur at a very young age: A study from the FranceCoag network

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, Annie Harroche, Antoine Rauch, Cécile Bally, Yoann Huguenin, Romain Voltzenlogel, Clémence Tabélé, Hervé Chambost, Martine Balençon, FranceCoag   +9 more
wiley   +1 more source