Search Results - "Simurda Tomas"

Comparison of clinical phenotype with genetic and laboratory results in 31 patients with congenital dysfibrinogenemia in northern Slovakia by Simurda, Tomas, Zolkova, Jana, Kolkova, Zuzana, Loderer, Dusan, Dobrotova, Miroslava, Skornova, Ingrid, Brunclíkova, Monika, Grendar, Marian, Lasabova, Zora, Stasko, Jan, Kubisz, Peter

“…Congenital dysfibrinogenemia (CD) is a rare disorder of hemostasis. The majority of cases are caused by heterozygous missense mutations in one of the three…”
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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 by Simurda, Tomas, Brunclikova, Monika, Asselta, Rosanna, Caccia, Sonia, Zolkova, Jana, Kolkova, Zuzana, Loderer, Dusan, Skornova, Ingrid, Hudecek, Jan, Lasabova, Zora, Stasko, Jan, Kubisz, Peter

“…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…”
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Association of Genetic Variability in Selected Genes in Patients With Deep Vein Thrombosis and Platelet Hyperaggregability by Sokol, Juraj, Skerenova, Maria, Ivankova, Jela, Simurda, Tomas, Stasko, Jan

“…The aim of this study was to evaluate the genetic variability of the selected single nucleotide polymorphisms (SNPs) and examine the association between these…”
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Congenital hypofibrinogenemia associated with a novel heterozygous nonsense mutation in the globular C-terminal domain of the γ-chain (p.Glu275Stop) by Simurda, Tomas, Caccia, Sonia, Asselta, Rosanna, Zolkova, Jana, Stasko, Jan, Skornova, Ingrid, Snahnicanova, Zuzana, Loderer, Dusan, Lasabova, Zora, Kubisz, Peter

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Glycoprotein VI Gene Variants Affect Pregnancy Loss in Patients With Platelet Hyperaggregability by Sokol, Juraj, Skerenova, Maria, Biringer, Kamil, Simurda, Tomas, Kubisz, Peter, Stasko, Jan

“…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…”
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Identification of Two Novel Fibrinogen Bβ Chain Mutations in Two Slovak Families with Quantitative Fibrinogen Disorders by Simurda, Tomas, Zolkova, Jana, Snahnicanova, Zuzana, Loderer, Dusan, Skornova, Ingrid, Sokol, Juraj, Hudecek, Jan, Stasko, Jan, Lasabova, Zora, Kubisz, Peter

“…Congenital fibrinogen disorders are caused by mutations in one of the three fibrinogen genes that affect the synthesis, assembly, intracellular processing,…”
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Basic Principles of Rotational Thromboelastometry (ROTEM ® ) and the Role of ROTEM-Guided Fibrinogen Replacement Therapy in the Management of Coagulopathies by Drotarova, Miroslava, Zolkova, Jana, Belakova, Kristina Maria, Brunclikova, Monika, Skornova, Ingrid, Stasko, Jan, Simurda, Tomas

“…Rotational thromboelastometry (ROTEM) is a viscoelastic method, which provides a graphical and numerical representation of induced hemostasis in whole blood…”
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Congenital Afibrinogenemia and Hypofibrinogenemia: Laboratory and Genetic Testing in Rare Bleeding Disorders with Life-Threatening Clinical Manifestations and Challenging Management by Simurda, Tomas, Asselta, Rosanna, Zolkova, Jana, Brunclikova, Monika, Dobrotova, Miroslava, Kolkova, Zuzana, Loderer, Dusan, Skornova, Ingrid, Hudecek, Jan, Lasabova, Zora, Stasko, Jan, Kubisz, Peter

“…Congenital fibrinogen disorders are rare pathologies of the hemostasis, comprising quantitative (afibrinogenemia, hypofibrinogenemia) and qualitative…”
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A Novel Nonsense Mutation in FGB (c.1421G>A; p.Trp474Ter) in the Beta Chain of Fibrinogen Causing Hypofibrinogenemia with Bleeding Phenotype by Simurda, Tomas, Vilar, Rui, Zolkova, Jana, Ceznerova, Eliska, Kolkova, Zuzana, Loderer, Dusan, Neerman-Arbez, Marguerite, Casini, Alessandro, Brunclikova, Monika, Skornova, Ingrid, Dobrotova, Miroslava, Grendar, Marian, Stasko, Jan, Kubisz, Peter

“…Congenital hypofibrinogenemia is a rare bleeding disorder characterized by a proportional decrease of functional and antigenic fibrinogen levels…”
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Association of Genetic Variability in Selected Genes with Platelet Hyperaggregability and Arterial Thrombosis by Brunclikova Monika, Ivankova Jela, Skerenova, Maria, Simurda Tomas, Stanciakova Lucia, Skornova Ingrid, Sterankova Miroslava, Zolkova Jana, Dobrotova Miroslava, Pavol, Holly, Kubisz, Peter, Stasko, Jan

“…Introduction: Inherited platelet hyperaggregability, so called “Sticky platelet syndrome” (SPS), is a prothrombotic platelet disorder. The syndrome contributes…”
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A Functional Assay for the Determination of Heparin-Induced Thrombocytopenia via Flow Cytometry by Skornova, Ingrid, Simurda, Tomas, Stanciakova, Lucia, Lauko, Viliam, Holly, Pavol, Samos, Matej, Bolek, Tomas, Schnierer, Martin, Drotarova, Miroslava, Belakova, Kristina Maria, Sokol, Juraj, Stasko, Jan, Mokan, Marian, Gumulec, Jaroslav, Chrastinova, Leona

“…Heparin-induced thrombocytopenia (HIT) is a life-threatening complication of heparin therapy (both unfractionated heparin and low-molecular-weight heparin). In…”
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Multimer Analysis of Von Willebrand Factor in Von Willebrand Disease with a Hydrasys Semi-Automatic Analyzer-Single-Center Experience by Skornova, Ingrid, Simurda, Tomas, Stasko, Jan, Zolkova, Jana, Sokol, Juraj, Holly, Pavol, Dobrotova, Miroslava, Plamenova, Ivana, Hudecek, Jan, Brunclikova, Monika, Stryckova, Alena, Kubisz, Peter

“…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…”
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Detection of Unknown and Rare Pathogenic Variants in Antithrombin, Protein C and Protein S Deficiency Using High-Throughput Targeted Sequencing by Vrtel, Petr, Slavik, Ludek, Vodicka, Radek, Stellmachova, Julia, Prochazka, Martin, Prochazkova, Jana, Ulehlova, Jana, Rohon, Peter, Simurda, Tomas, Stasko, Jan, Martinkova, Ivana, Vrtel, Radek

“…The deficiency of natural anticoagulants—antithrombin (AT), protein C (PC), and protein S (PS)—is a highly predisposing factor for thrombosis, which is still…”
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Fibrinogen Martin: A Novel Mutation in FGB (Gln180Stop) Causing Congenital Afibrinogenemia by Simurda, Tomas, Snahnicanova, Zuzana, Loderer, Dusan, Sokol, Juraj, Stasko, Jan, Lasabova, Zora, Kubisz, Peter

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Perioperative Monitoring with Rotational Thromboelastometry in a Severe Hemophilia A Patient Undergoing Elective Ankle Surgery by Simurda, Tomas, Drotarova, Miroslava, Skornova, Ingrid, Dobrotova, Miroslava, Brunclikova, Monika, Necas, Libor, Cibula, Zoltan, Kubisz, Peter, Stasko, Jan

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Perioperative Coagulation Management in a Patient with Congenital Afibrinogenemia during Revision Total Hip Arthroplasty by Simurda, Tomas, Kubisz, Peter, Dobrotova, Miroslava, Necas, Libor, Stasko, Jan

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Perioperative management of a severe congenital hypofibrinogenemia with thrombotic phenotype by Simurda, Tomas, Casini, Alessandro, Stasko, Jan, Hudecek, Jan, Skornova, Ingrid, Vilar, Rui, Neerman-Arbez, Marguerite, Kubisz, Peter

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Yes or no for secondary prophylaxis in afibrinogenemia? by Simurda, Tomas, Stanciakova, Lucia, Stasko, Jan, Dobrotova, Miroslava, Kubisz, Peter

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Diagnostic value of clot formation parameters determined by rotational thromboelastometry in 63 patients with congenital dysfibrinogenemia by Simurda, Tomas, Marchi, Rita, Casini, Alessandro, Neerman-Arbez, Marguerite, Drotarova, Miroslava, Skornova, Ingrid, Zolkova, Jana, Kolkova, Zuzana, Loderer, Dusan, Brunclikova, Monika, Belakova, Kristina Maria, Stasko, Jan

“…Rotational thromboelastometry (ROTEM) is a global hemostasis assay. The diagnosis added value of ROTEM in congenital dysfibrinogenemia remains to be…”
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Obstetrical complications in hereditary fibrinogen disorders: the Fibrinogest study by Hugon-Rodin, Justine, Carrière, Camille, Claeyssens, Ségolène, Trillot, Nathalie, Drillaud, Nicolas, Biron-Andreani, Christine, Lavenu-Bombled, Cécile, Wieland, Anna, Flaujac, Claire, Stieltjes, Natalie, Lebreton, Aurélien, Brungs, Thomas, Hegglin, Andrea, Fiore, Mathieu, Desconclois, Céline, Gay, Valérie, Tardy-Poncet, Brigitte, Beurrier, Philippe, Barbay, Virginie, Chamouni, Pierre, Maistre, Emmanuel De, Simurda, Tomas, Casini, Alessandro

“…Women with hereditary fibrinogen disorders (HFDs) seem to be at an increased risk of adverse obstetrical outcomes, but epidemiologic data are limited. We aimed…”
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