Results 31 to 40 of about 887 (167)
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 +12 more
wiley +1 more source
Pseudohomozygous dysfibrinogenemia
Research and Practice in Thrombosis and Haemostasis, 2021 Hypodysfibrinogenemia (HD) is a heterogeneous disorder in which plasma fibrinogen antigen and function are both reduced but discordant. This report addresses the key clinical question of whether genetic analysis enables clinically useful ...
Rachel C. Peck +5 more
doaj +1 more source
Recurrent myocardial infarction in a case of congenital Afibrinogenemia
Heart Views, 2014 Afibrinogenemia is a rare autosomal recessive bleeding disorder with an estimated prevalence of 1:1,000,000. Usual presentation of this disorder is spontaneous bleeding, bleeding after minor trauma and excessive bleeding during interventional procedures.
Soumya Patra +4 more
doaj +1 more source
Management of congenital dysfibrinogenemia in pregnancy: A challenging patient case
Research and Practice in Thrombosis and Haemostasis, 2021 Afibrinogenemia and congenital dysfibrinogenemia (CD) are rare conditions with limited information available for appropriate management. Previous case reports have demonstrated the safe and efficacious use of fibrinogen replacement therapy (FRT) as a ...
Megan Langer +5 more
doaj +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 +2 more
doaj +1 more source
Addressing some challenges of congenital fibrinogen disorders in 2023 and beyond
Bleeding, Thrombosis and Vascular Biology, 2023 Congenital fibrinogen disorders (CFD) include several types and subtypes of fibrinogen deficiency, resulting from monoallelic or biallelic mutations in one of the three fibrinogen genes. While it is relatively easy to make an accurate diagnosis based on
Cristina Santoro, Alessandro Casini
doaj +3 more sources
Congenital Afibrinogenemia presenting as antenatal intracranial bleed: a case report
Italian Journal of Pediatrics, 2010 Congenital afibrinogenemia is a very rare inherited coagulation disorder, characterized by virtual absence of plasma fibrinogen (factor I). There are only about 250 cases reported in the world literature 1.
Parapurath Rajiv +2 more
doaj +1 more source
Pregnancy outcome in afibrinogenemia: Are we giving enough fibrinogen concentrate? A case series
Research and Practice in Thrombosis and Haemostasis, 2020 Congenital afibrinogenemia is a rare autosomal recessive disorder associated with an increased risk of hemorrhage, thrombosis, and obstetric complications. This case series of 4 pregnancies in 2 related patients seeks to address the key clinical question
Joline L. Saes +3 more
doaj +1 more source
Indian Journal of Anaesthesia, 2011 Congenital afibrinogenemia is a very rare autosomal recessive disorder, results from mutation that affects plasma fibrinogen concentration. It is frequently associated with bleeding diathesis of varying severity.
Sham Sunder Goyal +3 more
doaj +1 more source
AFIBRINOGENEMIA E ISQUEMIA ARTERIAL CRÍTICA: RELATO DE CASO
Hematology, Transfusion and Cell Therapy, 2023 Introdução: Afibrinogenemia congênita é distúrbio hemorrágico autossômico recessivo raro, caracterizado pela ausência de fibrinogênio detectável. Paradoxalmente, os pacientes podem apresentar episódios hemorrágicos e fenômenos trombóticos arteriais e ...
VOC Rocha +6 more
doaj +1 more source