Results 31 to 40 of about 1,319 (189)

A Case Report of Congenital Afibrinogenemia and Literature Review of Management of Post-circumcision Bleeding. [PDF]

open access: yesCureus, 2023
We present a case of bleeding from circumcision in a full-term newborn male resulting from a rare coagulopathy, congenital afibrinogenemia, and a review of the literature regarding the management of bleeding after circumcision.
Khan I, Chow M, Chandra S, Hiatt M.
europepmc   +3 more sources

Pseudohomozygous dysfibrinogenemia

open access: yesResearch 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

PB2675: QUALITY OF LIFE IN INDIAN ADULTS WITH INHERITED BLEEDING DISORDERS [PDF]

open access: yesHemasphere, 2023
HemaSphere, Volume 7, Issue S3, August 2023.
Satish S   +7 more
europepmc   +2 more sources

Management of congenital dysfibrinogenemia in pregnancy: A challenging patient case

open access: yesResearch 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

Addressing some challenges of congenital fibrinogen disorders in 2023 and beyond

open access: yesBleeding, 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

Pregnancy outcome in afibrinogenemia: Are we giving enough fibrinogen concentrate? A case series

open access: yesResearch 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

A Case of Congenital Afibrinogenemia [PDF]

open access: yesBlood, 1957
Abstract 1. A case of congenital afibrinogenemia of a Sinhalese boy of 22 years is reported. 2. The main features of the reported cases are reviewed. 3. The principal features of this case are total absence of fibrinogen in the blood, complete non-coagulability of blood, history of several episodes of ...
P B, FERNANDO, B D, DHARMASENA
openaire   +2 more sources

AFIBRINOGENEMIA E ISQUEMIA ARTERIAL CRÍTICA: RELATO DE CASO

open access: yesHematology, 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

Agudização da afibrinogenemia congênita: um relato de caso / Acute worsening of congenital afibrinogenemia: a case report [PDF]

open access: yes, 2021
INTRODUÇÃO: A afibrinogenemia congênita, também conhecida como síndrome do fibrinogênio circulante indetectável, é um distúrbio autossômico recessivo extremamente raro, estimado em um a cada um milhão de habitantes.
Prado, Ilca Pereira   +5 more
core   +1 more source

A homozygous duplication of the FGG exon 8-intron 8 junction causes congenital afibrinogenemia. Lessons learned from the study of a large consanguineous Turkish family

open access: yesHaematologica, 2021
Congenital afibrinogenemia is the most severe congenital fibrinogen disorder, characterized by undetectable fibrinogen in circulation. Causative mutations can be divided into two main classes: null mutations with no protein production at all and ...
Michel Guipponi   +9 more
doaj   +1 more source

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