1. Relation of JAK2 V617F allele burden and coronary calcium score in patients with essential thrombocythemiaAjda Anžič Drofenik, Aleš Blinc, Mojca Božič Mijovski, Tadej Pajič, Matjaž Vrtovec, Matjaž Sever, 2024, izvirni znanstveni članek Povzetek: JAK2 V617F (JAK2) mutation is associated with clonal hemopoiesis in myeloproliferative neoplasms as well as with faster progression of cardiovascular diseases. Little is known about the relationship between allele burden and the degree of atherosclerotic alteration of coronary vasculature. We previously reported that carotid artery stiffness progressed faster in patients with JAK2 positive essential thromocythemia (ET) patients. After a four-year follow-up we investigated whether mutation burden of a JAK2 allele correlates with a higher coronary calcium score. Patients and methods. Thirty-six patients with JAK2 positive ET and 38 healthy matched control subjects were examined twice within four years. At each visit clinical baseline characteristics and laboratory testing were performed, JAK2 mutation burden was determined, and coronary calcium was measured. Results. JAK2 allele burden decreased in 19 patients, did not change in 5 patients, and increased in 4 patients. The coronary calcium Agatston score increased slightly in both groups. Overall, there was no correlation between JAK2 allele burden and calcium burden of coronary arteries. However, in patients with the JAK2 mutation burden increase, the coronary calcium score increased as well. Conclusions. The average JAK2 allele burden decreased in our patients with high-risk ET during the four-year period. However, in the small subgroup whose JAK2 mutation burden increased the Agatston coronary calcium score increased as well. This finding, which should be interpreted with caution and validated in a larger group, is in line with emerging evidence that JAK2 mutation accelerates atherosclerosis and can be regarded as a non-classical risk factor for cardiovascular disease.
Ključne besede: essential thrombocythemia, JAK2 V617F mutation, JAK2 V617F allele burden
Objavljeno v DiRROS: 10.12.2025; Ogledov: 133; Prenosov: 62
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2. Gene therapy of rare diseases as a milestone in medicine : overview of the field and report on initial experiences in SloveniaUrh Grošelj, Marko Kavčič, Ana Drole Torkar, Jan Kafol, Duško Lainšček, Roman Jerala, Matjaž Sever, Samo Zver, Gregor Serša, Maja Čemažar, Primož Strojan, Aleš Grošelj, Mojca Žerjav-Tanšek, Špela Miroševič, Simona Ivančan, Tomaž Prelog, David Gosar, Jasna Oražem, Matej Mlinarič, Sara Bertok, Jernej Kovač, Jana Kodrič, Saba Battelino, Marko Pokorn, Alojz Ihan, Janez Jazbec, Tadej Battelino, Damjan Osredkar, 2025, pregledni znanstveni članek Povzetek: Gene therapy has transitioned from a long-awaited promise to a clinical reality, offering transformative treatments for rare congenital diseases and certain cancers, which have a significant impact on patients’ lives. Current approaches focus on gene replacement therapy, either in vivo or ex vivo, mostly utilizing viral vectors to deliver therapeutic genes into target cells. However, refining these techniques is essential to overcome challenges and complications associated with gene therapy to ensure long-term safety and efficacy. Slovenia has witnessed significant advancements in this field since 2018, marked by successful gene therapy trials and treatments for various rare diseases. Significant strides have been made in the field of gene therapy in Slovenia, treating patients with spinal muscular atrophy and rare metabolic disorders, including the pioneering work on CTNNB1 syndrome. Additionally, immune gene therapy, exemplified by IL-12 adjuvant therapy for cancer, has been a focus of research in Slovenia. Through patient-centred initiatives and international collaborations, researchers in Slovenia are advancing preclinical research and clinical trials, paving the way for accessible gene therapies. Establishing clinical infrastructure and genomic diagnostics for rare diseases is crucial for gene therapy implementation. Efforts in this regard in Slovenia, including the establishment of a Centre for Rare Diseases, Centre for the Technologies of Gene and Cell Therapy, and rapid genomic diagnostics, demonstrate a commitment to comprehensive patient care. Despite the promises of gene therapy, challenges remain, including cost, distribution, efficacy, and long-term safety. Collaborative efforts are essential to address these challenges and ensure equitable access to innovative therapies for patients with rare diseases.
Ključne besede: gene therapy, rare genetic diseases, Slovenia, CAR-T cells, cancer, immune gene therapy
Objavljeno v DiRROS: 04.12.2025; Ogledov: 160; Prenosov: 124
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4. Slovenska priporočila za obravnavo kaheksije pri bolnikih z rakomNada Rotovnik-Kozjek, Živa Mrevlje, Barbara Koroušić-Seljak, Katja Kogovšek, Branko Zakotnik, Iztok Takač, Matjaž Horvat, Tadej Dovšak, Vojislav Didanovič, Andrej Kansky, Jožica Červek, Vaneja Velenik, Franc Anderluh, Milena Kerin, Matjaž Sever, Primož Strojan, Borut Štabuc, Mojca Unk, Jernej Benedik, Erik Brecelj, Tadeja Pintar, Lidija Kompan, Marko Novak, Laura Petrica, Denis Mlakar-Mastnak, Brigita Avramović Brumen, Eva Peklaj, Rajmonda Jankovič, Urška Jelenko, Edita Rotner, Sanja Đukić, Petra Tavčar, 2012, objavljeni strokovni prispevek na konferenci Ključne besede: onkologija, kaheksija, priporočila, klasifikacija
Objavljeno v DiRROS: 17.09.2019; Ogledov: 4284; Prenosov: 1161
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