Results 61 to 70 of about 239,927 (172)

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

Poster Sessions

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +2 more sources

Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion

, 2003
Congenital afibrinogenemia is a rare autosomal recessive disorder characterized by complete absence of detectable fibrinogen. We previously identified the first causative mutations for this disease: a homozygous deletion of approximately 11 kb of the ...
De Moerloose, Philippe, Parr, J. R., Morris, Michael Andréw, Neerman Arbez, Marguerite, Vu, Dung, Bolton-Maggs, P. H.   +5 more
core   +1 more source

Haemorheological profile in congenital afibrinogenemia and in congenital dysfibrinogenemia: A clinical case report

, 2019
Although the inherited quantitative and qualitative disorders of fibrinogen are rare, in the course of time patients may develop complications including episodes of arterial and venous thrombosis. It can be useful to complete the laboratory assessment of
Siragusa S., Napolitano M., Caimi G., Lo Presti R., Hopps E., Raso S.   +5 more
core   +1 more source

613 cases of splenic rupture without risk factors or previously diagnosed disease: a systematic review

BMC Emergency Medicine, 2012
Background Rupture of the spleen in the absence of trauma or previously diagnosed disease is largely ignored in the emergency literature and is often not documented as such in journals from other fields.
Aubrey-Bassler F, Sowers Nicholas
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

Ocular sequelae of congenital toxoplasmosis in Brazil compared with Europe [PDF]

, 2008
Toxoplasmic retinochoroiditis appears to be more severe in Brazil, where it is a leading cause of blindness, than in Europe, but direct comparisons are lacking.
Bahia Oliveira LM, Bahia-Oliveira Lilian M. G., Bahia-Oliveira, LM, Wallon M, Martine Wallon, Lilian M G Bahia-Oliveira, Petersen E, Miles R Stanford, Wallon Martine, Stanford MR, Ruth E Gilbert, Tan, HK, Freeman, K, Katherine Freeman, Stanford Miles R., Lago, EG, Lago EG, Hooi Kuan Tan, Stanford, MR, Tan Hooi Kuan, Freeman K, Gilbert RE, Tan HK, European Multicentre Study on Congenital T.o.x.o.p.l.a.s.m.o.s.i.s., Freeman Katherine, Gilbert, RE, Eskild Petersen, Gilbert Ruth E., European Multicentre Study on Congenital Toxoplasmosis (EMSCOT), Buffolano Wilma, Wilma Buffolano, Petersen, E, Lago Eleonor G., BUFFOLANO, WILMA, Eleonor G Lago, Buffolano, W, Wallon, M, Petersen Eskild   +37 more
core   +1 more source

Congenital heart block associated with Sjögren syndrome: case report [PDF]

, 2009
Background: Congenital heart block is a rare complication of pregnancy associated with Sjögren Syndrome that may result in the death of the foetus or infant, or the need for pacing in the newborn or at a later stage.Case report: The case is presented of ...
Poate, Timothy W.J., Penelope J Shirlaw, Michael P Escudier, Shirlaw, Penelope J., Moutasim, Karwan A., Timothy WJ Poate, Escudier, Michael P., Karwan A Moutasim   +7 more
core   +1 more source

Analysis of Iranian patients allowed the identification of the first truncating mutation in the fibrinogen Bbeta-chain gene causing afibrinogenemia

Haematologica, 2002
BACKGROUND AND OBJECTIVES: Congenital afibrinogenemia is a rare coagulation disorder whose molecular basis is still poorly characterized. Most mutations have been identified in the fibrinogen Aalpha- and gamma-chain genes, whereas only two missense ...
R Asselta, S Spena, S Duga, F Peyvandi, M Malcovati, PM Mannucci, ML Tenchini   +6 more
doaj  

Treatment for congenital toxoplasmosis: finding out what works [PDF]

, 2009
Evidence for the effectiveness of prenatal or postnatal treatment for congenital toxoplasmosis will be critical to guide policy about prenatal and neonatal screening over the next 10 years, let alone the next 100.
Gilbert, R, Ruth Gilbert, Gilbert, Ruth
core   +1 more source