Results 21 to 30 of about 1,146 (191)

Case Report: Unmasked Inherited Dysfibrinogenemia After Everolimus Therapy

Frontiers in Medicine, 2020
A previously hemostatically asymptomatic patient with common variable hypogammaglobulinemia was given everolimus to prevent growth of her liver. Within several months, the patient developed a severe bleeding disorder.
Alona A. Merkulova, Steven C. Mitchell, Sergei Merkulov, Alisa S. Wolberg, Marguerite Neerman-Arbez, Marguerite Neerman-Arbez, Alvin H. Schmaier, Alvin H. Schmaier   +7 more
doaj   +2 more sources

The thrombotic paradox in congenital fibrinogen deficiencies: from pathophysiology to practice [PDF]

Research and Practice in Thrombosis and Haemostasis
Congenital fibrinogen deficiencies (CFDs) comprise rare inherited disorders characterized by quantitative (afibrinogenemia, hypofibrinogenemia) or qualitative (dysfibrinogenemia, hypodysfibrinogenemia) abnormalities of fibrinogen.
Samin Mohsenian, Alessandro Casini, Flora Peyvandi   +2 more
doaj   +2 more sources

Young girl with congenital hypo-dysfibrogenemia presenting with an acute subdural haemorrhage

Asian Journal of Internal Medicine, 2023
Fibrinogen plays a pivotal role in the coagulation cascade. Inherited fibrinogen disorders are a heterogenous group that includes lack or reduced fibrinogen levels or a qualitative disorder of fibrinogen, dysfibrinogenemia.
I. N. Walmsley, D. T. E. Wijegunaratne, S. Satheeshkumar, N. Ranasinghe   +3 more
doaj   +2 more sources

Implications of the c.1201C > G (p.Arg401Gly) mutation in FGG gene on fibrinogen stability and function [PDF]

Frontiers in Medicine
Congenital dysfibrinogenemia, a rare coagulation disorder characterized by decreased fibrinogen activity while antigen level is usually normal. We conducted a study on a three-generation family comprising 15 members, among whom three individuals were ...
Jingyi Lu, Zeyi Xiang, Yonglong Ye, Wei Chen, Jieyi Tan, Bin Kuang, Jun Liu   +6 more
doaj   +2 more sources

Multidisciplinary team management of congenital dysfibrinogenemia in pregnancy: a case report [PDF]

BMC Pregnancy and Childbirth
Background Congenital dysfibrinogenemia is a rare autosomal dominant disorder involving abnormal fibrinogen function, leading to variable risks of bleeding and thrombosis.
Meng Jie He, Zhou Jun Wei, Fei Wang, Hai Ying Zhang   +3 more
doaj   +2 more sources

How I treat dysfibrinogenemia

Blood, 2021
Abstract Congenital dysfibrinogenemia (CD) is caused by structural changes in fibrinogen that modify its function. Diagnosis is based on discrepancy between decreased fibrinogen activity and normal fibrinogen antigen levels and is confirmed by genetic testing.
Casini, Alessandro, De Moerloose, Philippe   +1 more
openaire   +3 more sources

Acquired dysfibrinogenemia with discordant fibrinogen assays preceding the diagnosis of λ light-chain multiple myeloma: a case report [PDF]

Thrombosis Journal
Background Acquired dysfibrinogenemia is a rare and often underrecognized coagulation disorder characterized by impaired fibrinogen function rather than absolute deficiency.
Xuehan Mao, Fan Yu, Yanying Wang, Bianhong Wang, Jingxian Li, Jiao Li, Lihong Li, Yuehua Huang   +7 more
doaj   +2 more sources

Coexistence of Congenital Dysfibrinogenemia and Antiphospholipid Syndrome in Pregnancy: A Case Report [PDF]

International Journal of Women's Health
Zi Wang,1,* Su Mao,2,3,* Shujie Wang,1 Wen Zhang,4 Congwei Jia,5 Tienan Zhu1 1Department of Hematology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, People’s Republic ...
Wang Z, Mao S, Wang S, Zhang W, Jia C, Zhu T   +5 more
doaj   +2 more sources

Gynecologic and obstetric complications in women with congenital fibrinogen disorders: insights from the Prospective Rare Bleeding Disorders Database [PDF]

Research and Practice in Thrombosis and Haemostasis
Background: Women and girls with congenital fibrinogen deficiencies (CFDs) face higher hemorrhagic risks during their reproductive years, yet data on gynecologic and obstetric complications remain limited.
Samin Mohsenian, Roberta Palla, Marzia Menegatti, Andrea Cairo, Simona Maria Siboni, Marguerite Neerman-Arbez, Mehran Karimi, Helen Pargantou, Rosanna Asselta, Danijela Mikovic, Marko Saracevic, Britta Laros-van Gorkom, Laura Jacobs, Amy Shapiro, Adrianna Williamson, Michael Makris, Alessandro Casini, Flora Peyvandi   +17 more
doaj   +2 more sources

Determination of Fibrinogen Ratio Cutoff Limits Using Indirect Reference Interval Methodology. [PDF]

Int J Lab Hematol
ABSTRACT Introduction Discordant fibrinogen antigen to activity ratios are utilized by clinicians as evidence of dysfibrinogenemia. Abnormal ratio cutoffs implemented by clinical laboratories are typically determined by validation studies that include limited numbers of samples.
Saadalla A, Doyle K, Moser K, Smock K.
europepmc   +2 more sources