In vitro transcription of compound heterozygous hypofibrinogenemia Matsumoto IX; first identification of FGB IVS6 deletion of 4 nucleotides and FGG IVS3-2A > G causing abnormal RNA splicing [PDF]
, 2010 ArticleClinica Chimica Acta.
Fujihara, N +7 more
core +1 more source
Frontiers in MedicineThe choice of treatments for inherited, or acquired, fibrinogen deficient states is expanding and there are now several fibrinogen concentrate therapies commercially available. Patients with the rare inherited bleeding disorder, afibrinogenemia, commonly
Soutiam Goodarzi +9 more
doaj +1 more source
Treatment of congenital fibrinogen deficiency: overview and recent findings
Vascular Health and Risk Management, 2009 Konstantinos Tziomalos, Sofia Vakalopoulou, Vassilios Perifanis, Vassilia GaripidouSecond Propedeutic Department of Internal Medicine, Medical School, Aristotle University of Thessaloniki, Hippokration Hospital, Thessaloniki, GreeceAbstract ...
Konstantinos Tziomalos +3 more
doaj
Afibrinogenemia following snake bite (Crotalus durissus terrificus)
Revista do Instituto de Medicina Tropical de São Paulo, 1988 This paper reports two cases of afibrinogenemia with normal platelet count following Crotalus durissus terrificus, snake bite Both patients presented high output acute renal failure and case two also had increased blood levels of CPK and LDH compatible ...
C. F. S. Amaral +4 more
doaj +1 more source
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 +4 more
doaj +1 more source
Molecular analysis of afibrinogenemic mutations caused by a homozygous FGA1238 bp deletion, and a compound heterozygous FGA1238 bp deletion and novel FGA c.54+3A > C substitution [PDF]
, 2012 We identified two afibrinogenemic girls in two Japanese families and performed molecular analysis to clarify the mechanisms of fibrinogen defects. Genetic analyses were performed by PCR amplification of the fibrinogen gene and DNA sequence analysis.
Fujiwara, Mitsuhiro +7 more
core +1 more source
Educated Birth: Beliefs vs. Outcomes [PDF]
, 2015 “Our infant mortality rate is a national embarrassment.”1 The words seem shocking and harsh across the headline of a 2014 Washington Post article. The thought of America not only not being the best at something, but falling upsettingly behind, is a ...
Presley, Lauren
core +1 more source
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 +9 more
doaj +1 more source
Prenatal and Peripartum Management of Patients with Hypofibrinogenemia Resulted in Two Successful Deliveries [PDF]
, 2017 Fibrinogen is an essential agent involved in maintaining pregnancy and coagulation. Since inherited fibrinogen disorders introduce greater risks for conditions such as placental abruption and postpartum hemorrhage, careful prenatal and perinatal ...
Hiroshi Miyoshi +5 more
core +3 more sources
Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells [PDF]
, 2017 The prevalent c.903+469T>C mutation in MTRR causes the cblE type of homocystinuria by strengthening an SRSF1 binding site in an ESE leading to activation of a pseudoexon.
Andersen, Henriette Skovgaard +12 more
core