Results 61 to 70 of about 2,449 (204)

Bleeding characteristics and management of minor surgeries in rare bleeding disorders: report from a Turkish Pediatric Hematology Center

open access: yesThe Turkish Journal of Pediatrics, 2020
Background and Objectives. In this retrospective report the aim was to present the experience about bleeding characteristics and management of minor surgeries in rare bleeding disorders (RBDs). Methods.
Sema Aylan Gelen   +2 more
doaj   +1 more source

Hereditary Afibrinogenemia: Rare Bleeding Disorder Presenting with Spontaneous Extradural Hematoma – A Brief Review

open access: yesIndian Journal of Neurosurgery, 2016
Afibrinogenemia is considered as rare hereditary bleeding disorder with autosomal recessive genetic transmission, caused by mutations of any one out of the three genes located on chromosome 4, responsible for coding of three polypeptide chains ...
Guru Dutta Satyarthee   +1 more
doaj   +1 more source

Spectrum of afibrinogenemia: Bleeding to thrombosis- retrospective analysis of five patients

open access: yesPediatric Hematology Oncology Journal
Background: Afibrinogenemia is a rare disorder, with autosomal recessive inheritance, most often associated with consanguinity. To date, very few cases have been reported from India.
Sneha Waghela   +4 more
doaj   +1 more source

Congenital afibrinogenemia diagnosis by estimating plasma fibrinogen by conventional method with clinical correlation

open access: goldIndian Journal of Pathology and Microbiology, 2008
Goswami K   +7 more
doaj   +2 more sources

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

open access: yesMolecular 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

Afibrinogenemia en el embarazo

open access: yesRevista 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

open access: yesHaemophilia, 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

Oral surgery in people with inherited bleeding disorder: A retrospective study

open access: yesHaemophilia, 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

Congenital fibrinogen deficiency in Hemophilia Center Medical City/Baghdad

open access: yesIraqi 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   +2 more
doaj   +1 more source

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

open access: yesInternational 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   +4 more
wiley   +1 more source

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