Tomáš Šimurda
YOU?
Author Swipe
View article: Successful Perioperative Management of Titanium Cranioplasty in a Patient with Severe Hemophilia A
Successful Perioperative Management of Titanium Cranioplasty in a Patient with Severe Hemophilia A Open
Background: Hemophilia A is an X-linked recessive bleeding disorder associated with high risk for intracranial hemorrhage, requiring complicated neurosurgical interventions. Perioperative management is based on quick factor replacement the…
View article: A novel pathogenic variant in the fibrinogen gamma chain gene p.Glu275Lys causes congenital hypofibrinogenemia
A novel pathogenic variant in the fibrinogen gamma chain gene p.Glu275Lys causes congenital hypofibrinogenemia Open
Congenital hypofibrinogenemia presents not only with bleeding, but also paradoxically with thrombosis. This heterogeneity of clinical phenotype complicates both diagnosis and management. The thrombotic phenotype is thought to arise from al…
View article: Diagnostic value of clot formation parameters determined by rotational thromboelastometry in 63 patients with congenital dysfibrinogenemia
Diagnostic value of clot formation parameters determined by rotational thromboelastometry in 63 patients with congenital dysfibrinogenemia Open
Rotational thromboelastometry (ROTEM) is a global hemostasis assay. The diagnosis added value of ROTEM in congenital dysfibrinogenemia remains to be established. The aim of this study was to analyze clot formation by ROTEM in a cohort of d…
View article: Basic Principles of Rotational Thromboelastometry (ROTEM®) and the Role of ROTEM—Guided Fibrinogen Replacement Therapy in the Management of Coagulopathies
Basic Principles of Rotational Thromboelastometry (ROTEM®) and the Role of ROTEM—Guided Fibrinogen Replacement Therapy in the Management of Coagulopathies Open
Rotational thromboelastometry (ROTEM) is a viscoelastic method, which provides a graphical and numerical representation of induced hemostasis in whole blood samples. Its ability to quickly assess the state of hemostasis is used in the mana…
View article: PB1196 In Vitro Comparisons of Two Fibrinogen Concentrates on Fibrin Clot Properties in Dysfibrinogenemia
PB1196 In Vitro Comparisons of Two Fibrinogen Concentrates on Fibrin Clot Properties in Dysfibrinogenemia Open
Background: Growing evidence implicates neutrophils in the pathophysiology of thrombosis.With inflammation, neutrophils are recruited to injury sites, where they release granular serine proteases (NSPs) such as cathepsin G (CatG), proteina…
View article: OC 75.2 Obstetrical Complications in Hereditary Fibrinogen Disorders: The Fibrinogest Study
OC 75.2 Obstetrical Complications in Hereditary Fibrinogen Disorders: The Fibrinogest Study Open
Table 1: Clinical and laboratory characteristics of patients with CFD.Figure 1: Distribution of age at
View article: A Functional Assay for the Determination of Heparin-Induced Thrombocytopenia via Flow Cytometry
A Functional Assay for the Determination of Heparin-Induced Thrombocytopenia via Flow Cytometry Open
Heparin-induced thrombocytopenia (HIT) is a life-threatening complication of heparin therapy (both unfractionated heparin and low-molecular-weight heparin). In our study, we examined a group of 122 patients with suspected HIT. The samples …
View article: Detection of Unknown and Rare Pathogenic Variants in Antithrombin, Protein C and Protein S Deficiency Using High-Throughput Targeted Sequencing
Detection of Unknown and Rare Pathogenic Variants in Antithrombin, Protein C and Protein S Deficiency Using High-Throughput Targeted Sequencing Open
The deficiency of natural anticoagulants—antithrombin (AT), protein C (PC), and protein S (PS)—is a highly predisposing factor for thrombosis, which is still underdiagnosed at the genetic level. We aimed to establish and evaluate an optima…
View article: Association of Genetic Variability in Selected Genes with Platelet Hyperaggregability and Arterial Thrombosis
Association of Genetic Variability in Selected Genes with Platelet Hyperaggregability and Arterial Thrombosis Open
Introduction : Inherited platelet hyperaggregability, so called “Sticky platelet syndrome” (SPS), is a prothrombotic platelet disorder. The syndrome contributes more often to arterial than venous thrombosis. The most common localization of…
View article: Heterogeneity of Genotype–Phenotype in Congenital Hypofibrinogenemia—A Review of Case Reports Associated with Bleeding and Thrombosis
Heterogeneity of Genotype–Phenotype in Congenital Hypofibrinogenemia—A Review of Case Reports Associated with Bleeding and Thrombosis Open
Congenital fibrinogen disorders are diseases associated with a bleeding tendency; however, there are also reports of thrombotic events. Fibrinogen plays a role in the pathogenesis of thrombosis due to altered plasma concentrations or modif…
View article: Multimer Analysis of Von Willebrand Factor in Von Willebrand Disease with a Hydrasys Semi-Automatic Analyzer—Single-Center Experience
Multimer Analysis of Von Willebrand Factor in Von Willebrand Disease with a Hydrasys Semi-Automatic Analyzer—Single-Center Experience Open
von Willebrand disease (VWD) is reportedly the most common inherited bleeding disorder. This disorder develops as a result of defects and/or deficiency of the plasma protein von Willebrand factor (VWF). Laboratory testing for VWF-related d…
View article: Congenital Afibrinogenemia and Hypofibrinogenemia: Laboratory and Genetic Testing in Rare Bleeding Disorders with Life-Threatening Clinical Manifestations and Challenging Management
Congenital Afibrinogenemia and Hypofibrinogenemia: Laboratory and Genetic Testing in Rare Bleeding Disorders with Life-Threatening Clinical Manifestations and Challenging Management Open
Congenital fibrinogen disorders are rare pathologies of the hemostasis, comprising quantitative (afibrinogenemia, hypofibrinogenemia) and qualitative (dysfibrinogenemia and hypodysfibrinogenemia) disorders. The clinical phenotype is highly…
View article: A Novel Nonsense Mutation in FGB (c.1421G>A; p.Trp474Ter) in the Beta Chain of Fibrinogen Causing Hypofibrinogenemia with Bleeding Phenotype
A Novel Nonsense Mutation in FGB (c.1421G>A; p.Trp474Ter) in the Beta Chain of Fibrinogen Causing Hypofibrinogenemia with Bleeding Phenotype Open
Congenital hypofibrinogenemia is a rare bleeding disorder characterized by a proportional decrease of functional and antigenic fibrinogen levels. Hypofibrinogenemia can be considered the phenotypic expression of heterozygous loss of functi…
View article: Genetic Variants in the FGB and FGG Genes Mapping in the Beta and Gamma Nodules of the Fibrinogen Molecule in Congenital Quantitative Fibrinogen Disorders Associated with a Thrombotic Phenotype
Genetic Variants in the FGB and FGG Genes Mapping in the Beta and Gamma Nodules of the Fibrinogen Molecule in Congenital Quantitative Fibrinogen Disorders Associated with a Thrombotic Phenotype Open
Fibrinogen is a hexameric plasmatic glycoprotein composed of pairs of three chains (Aα, Bβ, and γ), which play an essential role in hemostasis. Conversion of fibrinogen to insoluble polymer fibrin gives structural stability, strength, and …
View article: The Importance and Complications of Sequencing of Von Willebrand Gene in Von Willebrand Disease
The Importance and Complications of Sequencing of Von Willebrand Gene in Von Willebrand Disease Open
Genetic testing in patients with von Willebrand disease completes phenotypic testing with an aim to confirm the von Willebrand factor defect at a molecular level. Structure of the VWF gene was described 30 years ago; since then a large num…
View article: Glycoprotein VI Gene Variants Affect Pregnancy Loss in Patients With Platelet Hyperaggregability
Glycoprotein VI Gene Variants Affect Pregnancy Loss in Patients With Platelet Hyperaggregability Open
The aim of our study was to evaluate GP6 gene in patients with sticky platelet syndrome (SPS) and fetal loss. Platelet aggregability was tested with platelet-rich plasma using PACKS-4 aggregometer (Helena Laboratories). High-resolution mel…
View article: Association of Genetic Variability in Selected Genes in Patients With Deep Vein Thrombosis and Platelet Hyperaggregability
Association of Genetic Variability in Selected Genes in Patients With Deep Vein Thrombosis and Platelet Hyperaggregability Open
The aim of this study was to evaluate the genetic variability of the selected single nucleotide polymorphisms (SNPs) and examine the association between these SNPs and risk for deep vein thrombosis (DVT) in patients with sticky platelet sy…
View article: Diagnosis and management of von Willebrand disease in Slovakia
Diagnosis and management of von Willebrand disease in Slovakia Open
Background: Von Willebrand disease (VWD) is a common bleeding disorder with prevalence in the Slovak Republic of 11.2 cases per 100,000 people. Methods: We conducted a retrospective audit of 610 VWD patients in Slovakia. Results: Care of l…
View article: Identification of Two Novel Fibrinogen Bβ Chain Mutations in Two Slovak Families with Quantitative Fibrinogen Disorders
Identification of Two Novel Fibrinogen Bβ Chain Mutations in Two Slovak Families with Quantitative Fibrinogen Disorders Open
Congenital fibrinogen disorders are caused by mutations in one of the three fibrinogen genes that affect the synthesis, assembly, intracellular processing, stability or secretion of fibrinogen. Functional studies of mutant Bβ-chains reveal…
View article: Successful Use of a Highly Purified Plasma von Willebrand Factor Concentrate Containing Little FVIII for the Long-Term Prophylaxis of Severe (Type 3) von Willebrand's Disease
Successful Use of a Highly Purified Plasma von Willebrand Factor Concentrate Containing Little FVIII for the Long-Term Prophylaxis of Severe (Type 3) von Willebrand's Disease Open
We read with great interest the article by Curnow et al, [1] describing treatment of von Willebrand disease (VWD), as published in a recent issue of the journal, together with other interesting articles related to such disorders, as appear…
View article: Perioperative Coagulation Management in a Patient with Congenital Afibrinogenemia during Revision Total Hip Arthroplasty
Perioperative Coagulation Management in a Patient with Congenital Afibrinogenemia during Revision Total Hip Arthroplasty Open
See also: Clinical Features and Management of Congenital Fibrinogen DeficienciesSemin Thromb Hemost 2016; 42(04): 366-374DOI: 10.1055/s-0036-1571339
View article: Fibrinogen Martin: A Novel Mutation in FGB (Gln180Stop) Causing Congenital Afibrinogenemia
Fibrinogen Martin: A Novel Mutation in FGB (Gln180Stop) Causing Congenital Afibrinogenemia Open
We read with great interest the topical article by de Moerloose et al[1] in Seminars in Thrombosis and Hemostasis regarding congenital afibrinogenemia. Accordingly, we recently corresponded a novel mutation in an afibrinogenemic patient wi…
View article: Novel Fibrinogen Bbeta Chain Mutation as an Underlying Mechanism of Afibrinogenemia?
Novel Fibrinogen Bbeta Chain Mutation as an Underlying Mechanism of Afibrinogenemia? Open
We read with great interest the updated article written by de Moerloose et al[1] in your journal regarding congenital fibrinogen disorders, including afibrinogenemia. We wish to report a novel mutation in fibrinogen β chain, and furthermor…