Results 11 to 20 of about 495 (105)
Pseudohomozygous dysfibrinogenemia
Research and Practice in Thrombosis and Haemostasis, 2021 Hypodysfibrinogenemia (HD) is a heterogeneous disorder in which plasma fibrinogen antigen and function are both reduced but discordant. This report addresses the key clinical question of whether genetic analysis enables clinically useful ...
Rachel C. Peck +5 more
doaj +1 more source
Addressing some challenges of congenital fibrinogen disorders in 2023 and beyond
Bleeding, Thrombosis and Vascular Biology, 2023 Congenital fibrinogen disorders (CFD) include several types and subtypes of fibrinogen deficiency, resulting from monoallelic or biallelic mutations in one of the three fibrinogen genes. While it is relatively easy to make an accurate diagnosis based on
Cristina Santoro, Alessandro Casini
doaj +3 more sources
A 26-year-old pregnant woman with mild gingival bleeding
Clinical and Experimental Obstetrics & Gynecology, 2020 Congenital dysfibrinogenemia is a genetic coagulopathy that leads to compromised fibrinogen function. This case report describes a 26-year-old pregnant woman at the 38th week of gestation who presented with mild gingival bleeding and constant bruising on
J.Z. Zeng +7 more
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British Journal of Haematology, Volume 203, Issue 3, Page 355-368, November 2023., 2023 Summary Congenital fibrinogen disorders or CFDs are heterogenous, both in clinical manifestation and array of culprit molecular lesions. Correlations between phenotype and genotype remain poorly defined. This review examines the genetic landscape discovered to date for this rare condition.
Radha Ramanan +3 more
wiley +1 more source
Thrombotic microangiopathy after traumatic brain injury: A case report and review of the literature
Clinical Case Reports, Volume 11, Issue 9, September 2023., 2023 Timeline of events. Key Clinical Message This case report supports that trauma can rarely cause thrombotic microangiopathy (TMA). Early recognition is important due to a high mortality of untreated TMA, but diagnosis can be delayed by attributing lab abnormalities as due to blood loss.
Xavier Van Meerbeeck +7 more
wiley +1 more source
Interference of Monoclonal Gammopathy with Fibrinogen Assay Producing Spurious Dysfibrinogenemia
TH Open, 2019 Abnormal coagulation properties indicative of a dysfibrinogenemia were found in the plasma of an asymptomatic 65-year-old male. An immunoglobulin k light chain was found to interfere with Fg functional assay and coagulation tests (activated partial ...
Francesca Martini +6 more
doaj +1 more source
P423: Recurrent pulmonary hemorrhages as a presenting symptom of congenital dysfibrinogenemia in a hospital patient identified from rapid whole genome sequencing [PDF]
Genetics in Medicine OpenRachel Hart +3 more
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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 +7 more
doaj +1 more source
Diagnostics, 2021 Congenital fibrinogen disorders are rare pathologies of the hemostasis, comprising quantitative (afibrinogenemia, hypofibrinogenemia) and qualitative (dysfibrinogenemia and hypodysfibrinogenemia) disorders. The clinical phenotype is highly heterogeneous,
Tomas Simurda +11 more
doaj +1 more source
Multigenic forms of thrombophilia in habitual miscarige. [PDF]
Medičnì Perspektivi, 2015 Miscarriage is an actual problem of modern obstetrics. The frequency of miscarriage is 10-25% of all pregnancies, and habitual abortion occurs in 5%. Habitual miscarriage is considered as a typical multifactorial disease, being the result of expression ...
K. V. Voronin +2 more
doaj +2 more sources