Results 41 to 50 of about 850 (150)

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

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

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

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, Sabine Castet, Mathilde Fénelon, Yoann Huguenin, Jean‐Christophe Fricain, Virginie Chuy, Sylvain Catros   +6 more
wiley   +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

Thrombin generation assay in platelet‐poor plasma in children with iron deficiency anemia

International Journal of Laboratory Hematology, Volume 46, Issue 2, Page 345-353, April 2024.
Abstract Objectives Iron deficiency anemia (IDA) is the most common type of anemia in childhood and it leads to a hypercoagulable state. We investigated endogenous thrombin production in platelet‐poor plasma before and after oral iron replacement in children with IDA using the thrombin generation assay (TGA).
Umur Özdöl, Zeynep Canan Özdemir, Ersin Töret, Hülya Özen, Özcan Bör   +4 more
wiley   +1 more source

Antithrombotic effect of Lonomia obliqua caterpillar bristle extract on experimental venous thrombosis

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, F.H.A. Maffei, L. Mattar, A.M. Chudzinski-Tavassi, P.R. Curi   +4 more
doaj   +1 more source

Bilateral leukocoria in infant with afibrinogenemia

Clinical Ophthalmology, 2008
M Necati Demir1, Mehmet Akif Acar1, Yusuf Ziya Aral2, Nurten Ünlü11Ankara Education and Research Hospital, Department of Ophthalmology, Ankara, Turkey; 2Aydin Menderes University, Faculty of Medicine, Department of Pediatric Hematology,
M Necati Demir, Mehmet Akif Acar, Yusuf Ziya Aral, Nurten Ünlü   +3 more
doaj  

Síntomas neurológicos focales transitorios por microsangrados cerebrales en hipofibrinogenemia congénita: reporte de un caso

Acta Neurológica Colombiana
Introducción: un espectro de enfermedad hemorrágica intracraneal se puede presentar con síntomas neurológicos focales transitorios; aunque las enfermedades congénitas del fibrinógeno son inusuales y rara vez se manifiestan de esta manera, a continuación
Mónica Ortiz Pereira, Camilo Andrés Romero Hernández, Luisa Fernanda Millán Suspe   +2 more
doaj   +1 more source

Diagnostic and management practices for inherited fibrinogen disorders: a nationwide survey of Italian Hemophilia Treatment Centers

Bleeding, Thrombosis and Vascular Biology
Background: inherited fibrinogen disorders are characterized by a spectrum of quantitative or qualitative fibrinogen deficiency associated with both a hemorrhagic and thrombotic risk.
Renato Marino, Silvia Linari, Marzia Leotta, Antonio Coppola, Chiara Biasoli, Maria Elisa Mancuso, Flora Peyvandi, Cristina Santoro, Ezio Zanon, Rita Carlotta Santoro   +9 more
doaj   +1 more source