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Pozycja A novel ACVRL1 mutation in a patient with hereditary hemorrhagic telangiectasia coexisting with pulmonary arterial hypertension(Medycyna Praktyczna, 2025-12-10) Waligóra, Marcin; Krupa -Zabiegała, Julia; Wypasek, Ewa; Karpiński, Marek; Stępniewski, Jakub; Kopeć, GrzegorzPozycja Genetic alterations in bone morphogenic protein receptor 2 in Polish patients diagnosed with idiopathic pulmonary arterial hypertension(Via Medica, 2025-08-11) Borys, Agnieszka M.; Jonas, Kamil; Sochacka, Ewelina; Kołton-Wróż, Maria; Wołkow, Paweł; Wypasek, Ewa; Pelc, Ewa; Małecki, Maciej T.; Kopeć, Grzegorz; Totoń-Żurańska, JustynaIntroduction: "Pulmonary arterial hypertension (PAH) is a rare vascular disorder characterized by structural changes in the pulmonary vessels and elevated pressure in the pulmonary artery, leading to right ventricular hypertrophy and right heart failure [1–3]. Idiopathic PAH (IPAH) is diagnosed by excluding other potential causes of pulmonary hypertension. The most commonly mutated gene in PAH codes the bone morphogenic protein receptor 2 (BMPR2), a transmembrane receptor involved in cell-specific BMP signaling [4, 5]. In this study, we present the first comprehensive analysis of BMPR2 gene alterations in Polish patients diagnosed with IPAH." (...)Pozycja Genetic and clinical characteristics of congenital fibrinogen disorders in 10 Polish patients, with identification of 3 new variants: Fibrinogen Gdańsk II (FGB c.749A>G), Fibrinogen Gdańsk III (FGG c.246dupA), and Fibrinogen Toruń (FGB c.270delT)(Medycyna Praktyczna, 2026-02-23) Ochotnicka, Joanna; Radoń‑Proskura, Julia; Bartkowiak, Łucja; Treliński, Jacek; Neerman‑Arbez, Marguerite; Wypasek, EwaIntroduction: "Congenital fibrinogen disorders (CFDs), caused by pathogenic variants in 1 of the 3 fibrinogen genes: FGA, FGB, or FGG, are classified as quantitative deficiencies—afibrinogenemia and hypofibrinogenemia—typically inherited in an autosomal recessive manner, or qualitative defects—dysfibrinogenemia and hypodysfibrinogenemia - most often showing an autosomal dominant inheritance pattern. Fibrinogen plays a role not only in blood coagulation but also in wound healing, angiogenesis, and inflammation. Consequently, structural or functional abnormalities of fibrinogen may lead to complex and often variable clinical manifestations. Patients with afibrinogenemia typically present with umbilical cord or mucocutaneous bleeding during the neonatal period, whereas those with hypofibrinogenemia usually experience mild‑to‑moderate bleeding, often triggered by trauma or surgery. In contrast, dysfibrinogenemia may result in either bleeding or thrombosis, and a substantial proportion of patients remain asymptomatic. Although genetic testing has improved the confirmation of CFDs, diagnosis is mainly based on functional and antigenic fibrinogen measurement. Nevertheless, CFDs remain underdiagnosed, mainly due to underestimation of mild or asymptomatic decreases in fibrinogen levels and a limited access to molecular testing in routine practice. Next‑generation sequencing enables a simultaneous analysis of all 3 fibrinogen genes and has substantially increased the detection of novel variants, contributing to a better understanding of genotype–phenotype correlations. Recent reviews have emphasized the marked clinical and laboratory heterogeneity of CFDs and the need for an integrated diagnostic approach combining fibrinogen activity, antigenlevels, and molecular testing. In Poland, to our knowledge, 49 genetically confirmed patients with CFDs have been reported to date. Here, we present clinical and genetic characteristics of 10 unrelated Polish patients with CFDs, with long‑term follow‑up, including 3 novel variants in the FGB and FGG genes." (...)Pozycja Identification of new molecular mechanisms of antithrombin deficiency: six new SERPINC1 variants in a Polish cohort(Elsevier, 2026-03-12) Ochotnicka, Joanna; Rupa-Matysek, Joanna; Klajmon, Adrianna; de la Morena-Barrio, María Eugenia; de la Morena-Barrio, Belén; Corral, Javier; Undas, Anetta; Wypasek, EwaPozycja Inherited Thrombophilia as a Risk Factor for Persistent Left Ventricular Thrombus Following Acute Myocardial Infarction(Thieme, 2026-02-09) Mróz, Krystian; Paszek, Elżbieta; Wypasek, Ewa; Undas, AnettaPozycja Landscape of mutational profiles in a Polish cohort of patients diagnosed with idiopathic pulmonary arterial hypertension(Via Medica, 2025-09-23) Borys, Agnieszka M.; Jonas, Kamil; Sochacka, Ewelina; Kołton-Wróż, Maria; Wołkow, Paweł; Wypasek, Ewa; Pelc, Ewa; Małecki, Maciej T.; Kopeć, Grzegorz; Totoń-Żurańska, JustynaIntroduction: "Pulmonary arterial hypertension (PAH) is a rare vascular disorder, characterized by narrowing of the pulmonary arteries due to vasoconstriction and vascular remodeling [1–3]. The national registry reports a PAH incidence of 5.2 cases per million per year and a prevalence of 30.8 cases per million in Poland [4, 5]. While its etiology remains partly unclear, genetic factors have been implicated in certain patient groups [6–8]. However, the molecular background of this population has not been systematically studied. Therefore, we aimed to comprehensively characterize the genetic landscape of PAH in Polish patients." (...)Pozycja Measurement of plasma direct oral anticoagulants concentrations in real-world clinical and laboratory settings on a 24/7 basis: a 10-year experience(Springer Nature, 2025-08-19) Kotnis-Gąska, Agnieszka; Trawińska, Agata; Broniatowska, Elżbieta; Konieczyńska, Małgorzata; Undas, Anetta; Wypasek, EwaAbstract: "Routine direct oral anticoagulant (DOAC) measurements are not recommended; however, they may be useful in some clinical situations. We sought to evaluate the everyday practice in DOAC measurements on a 24/7 basis including the number of tests over 10 years, indications in out- and inpatients, and turnaround time (TAT) in our tertiary center. From 2013 to 2023, we evaluated all consecutive 758 DOAC measurements performed in 628 patients, aged 61.9 ± 17.6 years mostly with venous thromboembolism (n = 211, 33.5%) and atrial fibrillation (n = 207, 33%) using chromogenic methods. The median number of tests was 6 per month (interquartile range (IQR) 3–9). There were parabolic trend lines for rivaroxaban (n = 308, 40.6%) and dabigatran (n = 241, 32.1%) measurements with a peak in 2017, while apixaban (n = 209, 27.3%) measurements were stable over the study period. The most common indications for DOAC measurements were drug-drug interactions (n = 92, 24.2%) and questionable adherence (n = 60, 15.9%) for outpatients (n = 380, 50.1%), while the assessment of residual DOAC concentrations before invasive procedures (n = 98, 28%) and in embolic stroke of undetermined source (n = 74, 19.6%) were for inpatients (n = 378, 49.9%) including 91 (12%) urgent samples. The median TAT was 89 min (63–126 min) and was shorter by 30 min at the night shifts (n = 256, 33.8%). For emergencies in 2023, TAT reached 42 min (34–54 min). To our knowledge, this is the longest study on how often, in whom, and for which reason DOAC measurements were requested over the last 10 years if a 24/7 service is available. We showed that DOAC measurements are stably requested in inpatients and outpatients but obtaining the results within 30 min is hardly feasible." (...)