Results 71 to 80 of about 1,319 (189)

A case of congenital afibrinogenemia complicated with thromboembolic events that required repeated amputations

, 2015
Although congenital afibrinogenemia is a rare autosomal recessive bleeding disorder, it can be more frequently encountered in countries where consanguineous marriages are common.
KARAKÜKCÜ, Musa, PATIROĞLU, Türkan, ÖZDEMİR, Mustafa, Isik, Bilgen, ÜNAL, Ekrem, Yilmaz, Ebru, MUTLU, Fatma T.   +6 more
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Presentación de un caso de Afibrinogenemia

Revista Colombiana de Obstetricia y Ginecología, 1956
Embarazo número 4. Tres partos a término, tres hijos vivos. Esta enferma de pequeña talla tiene una estrechez pélvica absoluta por lo cual le practicaron una cesárea en el Hospital de San Juan de Dios y dos en la Clínica Primero de Mayo.
Roberto Durán Forero
doaj   +1 more source

Impact of fibrinogen infusion on thrombin generation and fibrin clot structure in patients with inherited afibrinogenemia

, 2022
Introduction:  Inherited afibrinogenemia is a very rare disease characterized by complete absence of fibrinogen in the circulation and an increased risk in both thrombosis and bleeding.
Khayat, Claudia, Casini, Alessandro, Durual, Stéphane, Neerman Arbez, Marguerite, Lecompte, Thomas Pierre, Marchi Cappelletti, Rita   +5 more
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Spontaneous vulvar hematoma as a rare manifestation of congenital hypofibrinogenemia. Case report

Case Reports, 2019
Introduction: Congenital fibrinogen disorders are rare conditions in which there are quantitative and qualitative alterations of factor I; the vast majority of patients are asymptomatic.
Sebastián Felipe Sierra-Umaña, Rafael García-Sanchez, Laura Camila Urrutia-Corredor, Jessica Tatiana Olarte-Luis, Dolli Yineth Cáceres-Galíndez   +4 more
doaj   +1 more source

Manipulating the quality control pathway in transfected cells: low temperature allows rescue of secretion-defective fibrinogen mutants

Haematologica, 2008
Background Congenital afibrinogenemia is characterized by the absence of fibrinogen, a hexamer composed of two copies of three polypeptides, Aα. Bβ and γ. The disease is caused by mutations in one of the three fibrinogen-encoding genes, FGA, FGB and FGG.
Dung Vu, Corinne Di Sanza, Marguerite Neerman-Arbez   +2 more
doaj   +1 more source

Spontaneous epidural and subdural hematoma in a child with afibrinogenemia and postoperative management

, 2014
Congenital afibrinogenemia is a rare coagulation disorder that exhibits recessive inheritance. The prevalence of this disease is around 1 per 1 000 000, but it is increased in countries where consanguineous marriages are common.
Albudak, Esin, Tatli, Burcak Gunes, Berksoy, Emel, Yaman, Yontem, Isguder, RANA, Agin, Hasan, Carti, Ozgur, Kilit Y, Asiyan, Demirag, Bengu, Ozek, Gulcihan   +9 more
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Plasma viscosity pattern and erythrocyte aggregation in two patients with congenital afibrinogenemia

, 2020
In this case report, we examine the behavior of plasma viscosity, explored at high and low shear rates, and erythrocyte aggregation in two patients with congenital afibrinogenemia, a clinical disorder firstly described in 1920 and that has an estimated ...
Gregorio Caimi, Caimi, Gregorio, Mariasanta Napolitano, Simona Raso, Lo Presti, Rosalia, Raso, Simona, Napolitano, Mariasanta, Rosalia Lo Presti, Siragusa, Sergio, Sergio Siragusa   +9 more
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Identification of novel mutations in congenital afibrinogenemia patients and molecular modeling of missense mutations in Pakistani population

Thrombosis Journal, 2017
Background Congenital afibrinogenemia (OMIM #202400) is a rare coagulation disorder that was first described in 1920. It is transmitted as an autosomal recessive trait that is characterized by absent levels of fibrinogen (factor I) in plasma ...
Arshi Naz, Arijit Biswas, Tehmina Nafees Khan, Anne Goodeve, Nisar Ahmed, Nazish Saqlain, Shariq Ahmed, Ikram Din Ujjan, Tahir S Shamsi, Johannes Oldenburg   +9 more
doaj   +1 more source

Congenital Afibrinogenemia

Annals of Saudi Medicine, 2000
A C, Biswas, M A, Molla, K, Al Moslem, R, Al Khalif   +3 more
  +8 more sources

siRNA down-regulation of FGA mRNA in HepG2 cells demonstrated that heterozygous abnormality of the A alpha-chain gene does not affect the plasma fibrinogen level [PDF]

, 2013
Introduction: We encountered two afibrinogenemia patients with homozygous and compound heterozygous FGA mutation. Of interest, the patients' parents, who are heterozygous, had normal levels of plasma fibrinogen; thus, we hypothesized that liver FGA mRNA ...
Honda, Takayuki, Matsuda, Kazuyuki, Okumura, Nobuo, Takezawa, Yuka, Sugano, Mitsutoshi, Terasawa, Fumiko   +5 more
core   +1 more source