291. UV-radiation and MC1R germline mutations are risk factors for the development of conventional and spitzoid melanomas in children and adolescentsAlexandra Liebmann, Jakob Admard, Sorin Armeanu-Ebinger, Hannah Wild, Michael Abele, Axel Gschwind, Olga Seibel-Kelemen, Christian Seitz, Irina Bonzheim, Olaf Rieß, Maja Česen, 2023, izvirni znanstveni članek Povzetek: Background: Genomic characterisation has led to an improved understanding of adult melanoma. However, the aetiology of melanoma in children is still unclear and identifying the correct diagnosis and therapeutic strategies remains challenging. Methods: Exome sequencing of matched tumour-normal pairs from 26 paediatric patients was performed to study the mutational spectrum of melanomas. The cohort was grouped into different categories: spitzoid melanoma (SM), conventional melanoma (CM), and other melanomas (OT). Findings: In all patients with CM (n = 10) germline variants associated with melanoma were found in low to moderate melanoma risk genes: in 8 patients MC1R variants, in 2 patients variants in MITF, PTEN and BRCA2. Somatic BRAF mutations were detected in 60% of CMs, homozygous deletions of CDKN2A in 20%, TERTp mutations in 30%. In the SM group (n = 12), 5 patients carried at least one MC1R variant; somatic BRAF mutations were detected in 8.3%, fusions in 25% of the cases. No SM showed a homozygous CDKN2A deletion nor a TERTp mutation. In 81.8% of the CM/SM cases the UV damage signatures SBS7 and/or DBS1 were detected. The patient with melanoma arising in giant congenital nevus (CNM) demonstrated the characteristic NRAS Q61K mutation. Interpretation: UV-radiation and MC1R germline variants are risk factors in the development of conventional and spitzoid paediatric melanomas. Paediatric CMs share genomic similarities with adult CMs while the SMs differ genetically from the CM group. Consistent genetic characterization of all paediatric melanomas will potentially lead to better subtype differentiation, treatment, and prevention in the future.
Ključne besede: paediatric melanoma, exome sequencing, tumour-normal sequencing, rare paediatric tumours
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292. The effect of serotonin reuptake and serotonin-noradrenaline reuptake inhibitors on motor symptoms in Parkinson’s disease : a PPMI-based matched-subject studyTeodora Matić, Martijn Hendriks, Ruben Saman Vinke, Aleksander Sadikov, Dejan Georgiev, 2024, izvirni znanstveni članek Povzetek: Background: Depression often co-occurs with Parkinson’s disease (PD) and is effectively treated with selective serotonin reuptake inhibitors (SSRI) and serotonin and noradrenaline reuptake inhibitors (SNRI), but their effect on motor symptoms has not yet been conclusively demonstrated. Objective: To assess the impact of the SSRI/SNRI on the motor symptoms of PD. Methods: We used data from the Parkinson’s Progression Markers Initiative database, in a matched subject design with a target group (N =47) which had been taking SSRI/SNRI medication and a control group (N =90) which had not. Matching criteria included Movement Disorders Society Unified Parkinson’s Disease Rating Scale part III (MDS-UPDRS-III) total score and its subscales’ scores, and levodopa equivalent daily dose (LEDD) at the time of the first examination (initial LEDD). For the target group, we compared the MDS-UPDRS-III score before and after taking the SSRI/SNRI medication, while for the control group we compared two equally spaced examinations. Results: In the target group, we found a greater worsening of motor scores, which was associated with lower values of initial LEDD. In addition, apathy was an independent predictor of motor worsening. Conclusions: SSRI/SNRI-use seems to be characterized by a steeper worsening of motor symptoms, which can be predicted by a lower initial LEDD. Further research should continue to investigate the effect of SSRI/SNRI-use on motor symptoms in PD.
Ključne besede: Parkinson’s disease, serotonin/noradrenaline reuptake inhibitors, depression
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294. Statins for secondary prevention in women with atherosclerotic vascular disease : a nation-wide analysis of 24,665 women hospitalized for coronary, cerebrovascular or peripheral artery diseaseGregor Verček, Tjaša Furlan, Dalibor Gavrić, Mitja Lainščak, Jerneja Farkaš-Lainščak, Irena Ograjenšek, Petra Došenović Bonča, Borut Jug, 2025, izvirni znanstveni članek Povzetek: Background - Statin therapy is recommended for secondary prevention of atherosclerotic vascular disease (ASCVD) based on randomized trials, which enrolled mostly men with coronary artery disease (CAD), whereas women and patients with cerebrovascular (CVD) and peripheral artery disease (PAD) were under-represented. We analyzed the effectiveness of statin therapy uptake in a nation-wide cohort of women hospitalized for ASCVD. Methods - Women hospitalized for CAD, CVD, or PAD, including aortic disease, between 2015 and 2021 were retrospectively identified by linking the national hospital database, medicines reimbursement claims, and national mortality registry. The association of statin uptake within 30 days post-discharge with clinical outcomes (all-cause mortality and cardiovascular hospitalizations) was assessed by Kaplan-Meier curves and Cox proportional hazards regression model with propensity score-derived inverse probability of treatment weights and a 30-day landmark period. Results - We included 24,665 women with ASCVD – 14,419 with CAD, 5,427 with CVD, and 4,819 with PAD. Overall, the median age was 73 (64–81) years. The rates of statin uptake were 50% for women with CAD, 60% for CVD and 28% for PAD. Statin therapy uptake was associated with a reduction in all-cause mortality and cardiovascular hospitalizations across all three major types of ASCVD: hazard ratio (HR) 0.88, 95% confidence interval (CI) 0.83 – 0.93, p=0.001 for CAD, HR 0.87, 95% CI 0.80 – 0.94, p=0.006 for PAD, and HR 0.72, 95% CI 0.66 – 0.78, p<0.001 for CVD. Conclusion -Statin therapy is associated with reduced all-cause mortality and cardiovascular hospital readmissions in women with all major types of ASCVD.
Ključne besede: health, diseases, prevention
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295. 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.
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296. Dataset of xylem and phloem traits of Fraxinus ornus, Quercus pubescens and Ostrya carpinifolia from Podgorski Kras (Slovenia) in the period 2019-2021Jožica Gričar, Klemen Eler, Saša Ogorevc, Debojit Chanda, Sarkiri Kro, Mohendra Thapa, Polona Hafner, Peter Prislan, 2025, zaključena znanstvena zbirka raziskovalnih podatkov Ključne besede: raziskovalni podatki
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