Results 31 to 40 of about 850 (150)

Anaesthetic management of a child with congenital afibrinogenemia - A rare inherited coagulation disorder

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, D Vimal Bhardwaj, U K Shenoy, Bhavya Reddy   +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, RS Martins, L Miloni, M Krasilchik, EM Chaves, CMS Pinto, SV Antunes   +6 more
doaj   +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

Haematologica, 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, Frédéric Masclaux, Frédérique Sloan-Béna, Corinne Di Sanza, Namik Özbek, Flora Peyvandi, Marzia Menegatti, Alessandro Casini, Baris Malbora, Marguerite Neerman-Arbez   +9 more
doaj   +1 more source

TROMBOEMBOLISMO PULMONAR ASSOCIADO A ACIDENTE VASCULAR CEREBRAL HEMORRÁGICO EM PACIENTE COM AFIBRINOGENEMIA CONGÊNITA: RELATO DE CASO E REVISÃO DA LITERATURA

Hematology, Transfusion and Cell Therapy, 2023
Introdução: A deficiência de Fibrinogênio é uma coagulopatia rara, com prevalência aproximada de 1:1.000.000, ela pode ser quantitativa (hipo/afibrinogenemia) ou qualitativa, disfibrinogenemia.
CB Ferreira, NH Dias, L Rigoni, AC Luz, G Diaz, MLS Paula, E Bandinelli   +6 more
doaj   +1 more source

Afibrinogenemia

Pulse, 2011
Afibrinogenemia is a rare bleeding disorder with an estimated prevalence of 1:10,00,000 [1, 2]. It is an autosomal recessive disease resulting from mutations in any of the 3 genes that encodes the 3 polypeptide chains of fibrinogen and are located on the long arm of chromosome 4 3.
I Islam, Md Moniruzzaman, Pinkoo Attawar, Tahera Nazrin   +3 more
openaire   +2 more sources

Afibrinogenémia congénita.

Acta Médica Portuguesa, 1998
The authors present a case of congenital afibrinogenemia. A review of the literature is made, and some aspects of this rare inherited coagulation disorder are suggested and commented on.
P Pastilha, L Coelho, T D Costa, G Deus, H Santos, A Rosa, F Barrocas, L Braga   +7 more
doaj   +1 more source

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

The 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, Nazan Sarper, Emine Zengin   +2 more
doaj   +1 more source

Congenital afibrinogenemia in a 4-year-old girl complicated with acute lymphoblastic leukemia

The Turkish Journal of Pediatrics, 2020
Background. Congenital fibrinogen deficiency is one of the rare inherited coagulation disorders. Congenital fibrinogen deficiency complicated with a hematological malignancy can be life threatening. Case.
Alper Özcan, Bahadır Samur, Şefika Akyol, Necdet Arda Erdoğmuş, Türkan Patıroğlu, Musa Karakükçü, Ekrem Ünal   +6 more
doaj   +1 more source

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

Indian 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, Ashok K. Mahapatra   +1 more
doaj   +1 more source

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

Pediatric 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, Sujata Sharma, Nikita Shah, Harshada Uchil, Radha Ghildiyal   +4 more
doaj   +1 more source