1. 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: 27; Prenosov: 11
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2. Temporal variability in the incidence and risk factors for pharyngocutaneous fistula development after total laryngectomyRobert Šifrer, Maja Dolenc-Novak, Sara Bitenc, Simon Fugina, Luka Jesenko, Primož Strojan, 2024, izvirni znanstveni članek Povzetek: The pharyngocutaneous fistula (PCF) is a pathologic canal connecting the pharyngeal lumen with the skin of the neck occurring after a total laryngectomy (TLE), the removal of the entire larynx. The incidence of PCF ranges from 0% to 80%. Our study aimed to identify the temporal changes in PCF incidence over an extended period and determine the risk factors for increases in the PCF rate. By reviewing patient data from 2004 to 2022, we discovered a total incidence of 26.7%. This study revealed four high-incidence periods, averaging 37.61%, each followed by lower-incidence periods of 19.38%. The surgical wound infection and a history of head and neck cancer along with its related treatments were identified as independent risk factors during most of the high-incidence periods. The continuous monitoring of patients following TLE can assist providers in the better prediction and, consequently, timely management of PCF, ultimately improving patient outcomes after TLE.
Objavljeno v DiRROS: 28.11.2025; Ogledov: 91; Prenosov: 42
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4. Melanom : informacije o bolezni in zdravljenjuJanja Ocvirk, Marko Hočevar, Primož Strojan, Borut Žgavec, 2008, slovar, enciklopedija, leksikon, priročnik, atlas, zemljevid Objavljeno v DiRROS: 02.09.2025; Ogledov: 277; Prenosov: 78
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6. Timski pristop k zdravljenju raka glave in vratuPrimož Strojan, Cvetka Grašič-Kuhar, Branko Zakotnik, 2025, slovar, enciklopedija, leksikon, priročnik, atlas, zemljevid Ključne besede: timska obravnava, stranski učinki, bolniki, zdravstveni nasveti
Objavljeno v DiRROS: 07.08.2025; Ogledov: 367; Prenosov: 131
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7. Basophil activation test predicts cetuximab anaphylaxis severity in alpha-gal IgE-positive patientsPeter Kopač, Ana Koren, Urška Bidovec, Mitja Košnik, Luka Dejanović, Tanja Mesti, Primož Strojan, Peter Korošec, Janja Ocvirk, 2024, izvirni znanstveni članek Povzetek: Upon first exposure to cetuximab, hypersensitivity reactions can occur. We aimed to assess the utility of the basophil activation test (BAT) to alpha-gal and cetuximab for predicting severe reactions. We prospectively recruited 38 patients and evaluated sIgE to alpha-gal in all patients before the first application of cetuximab. In all alpha-gal-sensitized patients, we evaluated skin tests to meat extracts, gelatine, and cetuximab and performed BAT with alpha-gal and cetuximab. In 24% (9/38) of patients, sIgE to alpha-gal was >0.10 kUA/L, and 8/9 reacted to the cetuximab. Basophil activation tests with alpha-gal were positive in all sensitized patients and were higher in those with severe reactions (18.3% in grade 4 [n = 4] vs. 1.8% in grade 2 [n = 3] or no reaction [n = 1] at 3.3 ng/mL of alpha-gal; p = 0.03). All patients with severe grade 4 reactions had a positive CD63 BAT response to cetuximab compared to patients with moderate or no reaction, who all had negative BAT (57.7% vs. 0.9% at 500 µg/mL, 63.2% vs. 4.1% at 100 µg/mL, 58.2% vs. 2.7% at 10 µg/mL, and 32.1% vs. 3.3% at 1 µg/mL of cetuximab, respectively; p ≤ 0.001). In summary, before initiating cetuximab treatment, sIgE to alpha-gal should be assessed in all patients. To predict the severity of the reaction and to assess the risk of cetuximab-induced anaphylaxis, we should perform BATs with alpha-gal or more discriminative BATs with cetuximab.
Ključne besede: alpha-gal, baseline serum tryptase, basophil activation test, cetuximab, drug allergy
Objavljeno v DiRROS: 22.07.2025; Ogledov: 563; Prenosov: 257
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10. Priporočila za obravnavo bolnikov z melanomom kožeMartina Reberšek, Janja Ocvirk, Primož Strojan, Barbara Perić, Marko Hočevar, Katarina Šmuc Berger, Vesna Zadnik, Olga Blatnik, Katarina Zevnik, Nina Boc, Nežka Hribernik, Tanja Mesti, Karla Berlec, Nada Rotovnik-Kozjek, Maja Ebert Moltara, Jernej Benedik, Boštjan Luzar, Jože Pižem, Marko Boc, Marija Ignjatović, Katarina Barbara Karner, Gaber Plavc, Marko Kokalj, Marko Snoj, Katarina Trčko, 2024, strokovni članek Ključne besede: koža, rak (medicina), zaščitni ukrepi, dejavniki tveganja, klinična diagnostika, stadij, prognoza, histopatologija, kirurško zdravljenje, radioterapija, sistemsko zdravljenje, sledenje pacientov, prehranska podpora, paliativna oskrba, elektronske knjige
Objavljeno v DiRROS: 21.05.2025; Ogledov: 486; Prenosov: 239
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