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Keywords: medical physics, hyperspectral imaging, tissue index images, tumors, machine learning
Published in DiRROS: 18.02.2026; Views: 305; Downloads: 94
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Abstract: Background: Data on the incidence of IgG4-related disease (IgG4-RD) are scarce. Our aim was to determine the incidence of IgG4-RD in a well-defined region. Methods: This retrospective study covered the Ljubljana region over the period from January 2012 to December 2024. A review of cases diagnosed with IgG4-RD was performed at several departments of the University Medical Centre Ljubljana—an integrated secondary/tertiary university teaching hospital (rheumatology, nephrology, angiology, gastroenterology, abdominal surgery, ENT surgery, ophthalmology). While IgG4-RD cases at the Department of Rheumatology were collected prospectively, potential cases at other departments were retrieved by searching electronic medical database for the keyword “IgG4”. In addition, the Institute of Pathology, Faculty of Medicine, University of Ljubljana, provided a list of patients with histological features consistent with IgG4-RD. Year-specific incidence rates and an average incidence rate over the 13-year period were determined. Clinical features of patients were analysed. Results: During the observation period, 58 cases of IgG4-RD were diagnosed. Of these, 35 patients were residents of the Ljubljana region, which had an average adult population of 541,600. The estimated average annual incidence rate of IgG4-RD was 5.0 per million (95% confidence interval: 3.5; 6.9), with year-specific incidence rates fluctuating between 1.8 and 9.3 per million adults. The cases were stratified into four phenotypic categories: pancreato-hepato-biliary (17%), retroperitoneal fibrosis-aortitis (43%), head and neck-limited (14%), and Mikulicz syndrome with systemic involvement (26%). Conclusions: The average annual incidence rate of IgG4-RD was 5 per million adults, with the retroperitoneal fibrosis-aortitis phenotype predominating in our cohort.
Keywords: IgG4-related disease, epidemiology, demographic, incidence rate
Published in DiRROS: 09.12.2025; Views: 389; Downloads: 135
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Abstract: 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.
Keywords: gene therapy, rare genetic diseases, Slovenia, CAR-T cells, cancer, immune gene therapy
Published in DiRROS: 04.12.2025; Views: 360; Downloads: 206
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Abstract: Basal cell carcinoma (BCC) is a cutaneous malignancy that typically appears in sun-exposed areas. We analyzed data from the Insp-ECT registry of all patients affected by BCC in the head and neck region. The aim of this study was to evaluate the safety and efficacy of electrochemotherapy (ECT) on a 5-year basis. Patients and methods A cohort of 132 patients was included. They were treated by ECT according to the current Standard Operating Procedures. The median age was 74 years (range 41–93). There was a median of 1 nodule per patient (range 1–7), and the median size of the lesions was 1.4 cm (range 0.5–5.0 cm). Results Patients tolerated ECT well, and 96% agreed to repeat it if needed. The side effects were mild and temporary. All patients achieved a complete clinical response after 1 to 3 ECT sessions. During the first year of follow-up, 4 (3%) patients experienced recurrence, which was treated (2 with ECT, 1 with surgery, and 1 with a combination of ECT and surgery), after which they remained free of disease until the end of follow-up at 5 years. Five patients reported recurrence thereafter and were treated according to their condition. At the 5-year follow-up, the disease-free survival (DFS) rate was 92% (95% confidence interval [CI]: 87%–96%). At that time, 3 patients were alive with disease (2%), and 124 patients were free of disease (98%). Conclusions This study shows the feasibility and efficacy of ECT treatment in elderly patients with BCC tumors in aesthetically and functionally sensitive areas, with negligible toxicity. Comparable efficacy to other treatment modalities was demonstrated at 1 year and 5 years of follow-up in terms of DFS.
Keywords: basal cell carcinoma, electrochemotherapy, preživetje brez ponovitve bolezni
Published in DiRROS: 25.11.2025; Views: 491; Downloads: 131
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Abstract: Immune therapies are currently under intensive investigation providing in many cases excellent re-sponses in different tumors. Other possible approach for immunotherapy is a targeted intratumoral delivery of inter-leukin 12 (IL-12), a cytokine with anti-tumor effectiveness. Due to its immunomodulatory action, it can be used as an imunostimulating component to in situ vaccinating effect of local ablative therapies. We have developed a phIL12 plasmid devoid of antibiotic resistance marker with a transgene for human IL-12 p70 protein. The plasmid can be delivered intratumorally by gene electrotransfer (GET). Patients and methods. Here we present a first-in-human clinical trial protocol for phIL12 GET (ISRCTN15479959, ClinicalTrials NCT05077033). The study is aimed at evaluating the safety and tolerability of phIL12 GET in treatment of basal cell carcinomas in patients with operable tumors in the head and neck region. The study is designed as an ex-ploratory, dose escalating study with the aim to determine the safety and tolerability of the treatment and to identify the dose of plasmid phIL12 that is safe and elicits its biological activity. Conclusions. The results of this trail protocol will therefore provide the basis for the use of phIL12 GET as an adjuvant treatment to local ablative therapies, to potentially increase their local and elicit a systemic response.
Keywords: skin tumors, gene electrotransfer, interleukin 12, clinical trial
Published in DiRROS: 24.07.2024; Views: 1049; Downloads: 553
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