411. Comparison of requirements for using health claims on foods in the European Union, the USA, Canada, and Australia/New ZealandAnita Kušar, Katja Žmitek, Liisa Lähteenmäki, Monique Raats, Igor Pravst, 2021, review article Published in DiRROS: 24.11.2025; Views: 150; Downloads: 71
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412. A systematic review of vitamin D status and dietary intake in various Slovenian populationsMaša Hribar, Evgen Benedik, Matej Gregorič, Urška Blaznik, Andreja Kukec, Hristo Hristov, Katja Žmitek, Igor Pravst, 2022, review article Keywords: vitamin D, dietary intake, serum 25-hydroxy-vitamin D, vitamin D deficiency, systematic reviews, Slovenia
Published in DiRROS: 24.11.2025; Views: 157; Downloads: 64
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416. Early-time-point 18F-FDG-PET/CT and other prognostic biomarkers of survival in metastatic melanoma patients receiving immunotherapyNežka Hribernik, Katja Strašek, Andrej Studen, Katarina Zevnik, Katja Škalič, Robert Jeraj, Martina Reberšek, 2025, original scientific article Abstract: A considerable proportion of metastatic melanoma (mM) patients do not respond to immune checkpoint inhibitors (ICIs). There is a great need to develop noninvasive biomarkers to detect patients, who do not respond to ICIs early during the course of treatment. The aim of this study was to evaluate the role of early [18F]2fluoro- 2-deoxy-D-glucose PET/CT (18F-FDG PET/CT) at week four (W4) and other possible prognostic biomarkers of survival in mM patients receiving ICIs. Patients and methods. In this prospective noninterventional clinical study, mM patients receiving ICIs regularly underwent 18F-FDG PET/CT: at baseline, at W4 after ICI initiation, at week sixteen and every 16 weeks thereafter. The tumor response to ICIs at W4 was assessed via modified European Organisation for Research and Treatment of Cancer (EORTC) criteria. Patients with progressive metabolic disease (PMD) were classified into the no clinical benefit group (no-CB), and those with other response types were classified into the clinical benefit group (CB). The primary end point was survival analysis on the basis of the W4 18F-FDG PET/CT response. The secondary endpoints were survival analysis on the basis of LDH, the number of metastatic localizations, and immune-related adverse events (irAEs). Kaplan-Meier analysis and univariate Cox regression analysis were used to assess the impact on survival. Results. Overall, 71 patients were included. The median follow-up was 37.1 months (95% CI = 30.1–38.0). Three (4%) patients had only baseline scans due to rapid disease progression and death prior to W4 18F-FDG-PET/CT. Fifty-one (72%) patients were classified into the CB group, and 17 (24%) were classified into the no-CB group. There was a statistically significant difference in median overall survival (OS) between the CB group (median OS not reached [NR]; 95% CI = 17.8 months – NR) and the no-CB group (median OS 6.2 months; 95% CI = 4.6 months – NR; p = 0.003). Univariate Cox analysis showed HR of 0.4 (95% CI = 0.18 – 0.72; p = 0.004). median OS was also significantly longer in the group with normal serum LDH levels and the group with irAEs and cutaneous irAEs. Conclusions. Evaluation of mM patients with early 18F-FDG-PET/CT at W4, who were treated with ICIs, could serve as prognostic imaging biomarkers. Other recognized prognostic biomarkers were the serum LDH level and occurrence of cutaneous irAEs.
Keywords: melanoma, prognostic biomarkers, survival, immunotherapy
Published in DiRROS: 21.11.2025; Views: 156; Downloads: 60
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417. Prognostic Value of Multiple Manual Segmentation Methods for Diffuse Large B-Cell Lymphoma with 18F-FDG PET/CTAndrej Doma, Andrej Studen, Barbara Jezeršek Novaković, 2025, original scientific article Abstract: Abstract: Quantitative 18F-FDG PET/CT-derived metabolic metrics are strongly associated with patient outcomes in diffuse large B-cell lymphoma (DLBCL), but the lack of consensus on optimal segmentation thresholds limits standardization. This study evaluated the prognostic value of various metabolic tumor volume (MTV) segmentation approaches in 140 stage II–IV DLBCL patients treated with standard immunochemotherapy. MTV was derived using fixed SUV (≥2.5, ≥4.0), relative (>41% SUVmax), and adaptive (liver-tobackground) thresholds. Baseline MTV metrics significantly correlated with 3-year overall survival (OS3) in univariate analysis in overall cohort, with MTV41 showing the strongest association (HR: 1.27; p = 0.003). MTV25 and MTV41 remained significant in the stage 4 patient subgroup. However, in multivariate analysis, no MTV metric independently predicted OS3 when adjusted for the International Prognostic Index (IPI), which remained the dominant predictor (HR: 1.95; p < 0.0001). ROC analysis confirmed superior AUC for IPI (0.76) over PET-based metrics (0.64–0.69). Predictive models integrating IPI with PET metrics were robust but failed to improve prognostic accuracy beyond IPI alone. Although PET-derived MTV metrics provide prognostic value in univariate analysis, threshold selection has minimal impact, and their added value is limited when combined with IPI, reinforcing its role as the most reliable survival predictor in DLBCL.
Keywords: diffuse large B-cell lymphoma, 18F-FDG, overall survival, PET/CT
Published in DiRROS: 21.11.2025; Views: 163; Downloads: 45
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418. Preserving trust in the physician-patient relationship and addressing moral injury of physiciansJadranka Buturović-Ponikvar, 2023, other scientific articles Abstract: In recent decades, which have brought about dramatic changes in medicine, the relationship of trust between patients and doctors has come under severe pressure. In parallel with the increasing needs and complexity of patients who demand more individual time from their physicians (including the explanatory duty required by law), the administrative burden of the latter is increasing. The performance metrics of individual physicians has either already been introduced or is planned to be introduced, forcing physicians into the “production line” of healthcare services. Although physicians represent a small percentage of all employees in the healthcare enterprise, generally less than 10 %, they are the main target of performance metrics in healthcare. The administrative burden and metrics approach are enhanced by the corporatization of healthcare systems, both in private as well as public healthcare organizations. Patients and physicians are no longer the main figures in medical decision making, as many other individuals and entities have since joined, described as “strangers at the bedside” in a book by Professor David Rothman. They include bioethicists, lawyers, court rulings, economists, psychologists, civil society, and activists. The introduction of artificial intelligence into healthcare and its role in medical decision making will be assessed in the near and distant future. Patients do not want to be part of a healthcare production line. They want a human touch from their physician, whom they trust to fight for and protect their best interests, their health, and their lives. Patients need this trustful relationship at least as much as medications and healthcare services. Physicians want and need the same. A trustful relationship between patient and physician has been the core value of medicine for thousands of years, and should be protected and consolidated for the future. Our duty as physicians is the fight to sustain it in the challenging times ahead.
Keywords: moral injury, trust, physicians, physician - patient relationship
Published in DiRROS: 21.11.2025; Views: 147; Downloads: 73
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419. Unravelling genetic etiology of cerebral palsy : findings from a Slovenian pediatric cohortUla Arkar Silan, Ana Trebše, Jernej Kovač, Mihael Rogač, Anja Troha Gergeli, Robert Šket, Tina Bregant, David Neubauer, Borut Peterlin, Damjan Osredkar, 2025, original scientific article Abstract: Introduction: Cerebral palsy (CP) is a permanent movement or postural disorder due to non-progressive injury to the developing brain, with recent research suggesting a genetic contribution in many patients. This study aimed to investigate the genetic etiology of CP in Slovene children without a previously suspected genetic cause or with prior negative genetic testing. Methods: All children born after 2003 from the Slovenian National Registry of Cerebral Palsy (SRCP) without an established genetic diagnosis were invited to participate in this cross-sectional study. Whole exome sequencing (WES) was conducted, followed by analysis of 110 CP-associated genes. Thirteen patients underwent additional family segregation by Sanger sequencing. Genetic findings were classified according to the ACMG guidelines. Results: The study included 136 children, of whom 68 (50%) were male. Spastic CP was identified in 85% of the participants, dyskinetic in 13%, and ataxic in 2%. Gross Motor Function Classification System (GMFCS) levels varied, with the majority (36%) classified as level I. Pathogenic variants, likely pathogenic variants, or ‘de novo’ variants of unknown significance (VUS) were identified in nine children (6.6%) in ATL1, CTNNB1, DYRK1, KMT2A, PROC, SPAST, ZC4H2, and ZSWIM6. Among these nine children, two had normal brain Magnetic Resonance Imaging (MRI) and three had an unsuspicious medical history. Conclusion: This study identified plausible, possible, or definite genetic etiologies in a cohort of children with CP. Apart from the exclusion of individuals with a previously established genetic diagnosis, no other selection criteria were applied, allowing for an inclusive assessment of genetic contributions within this population. With the advent of personalized medicine and genetic treatment, understanding the genetic underpinnings of CP is crucial for targeted therapy.
Keywords: cerebral palsy, genetic etiology, whole exome sequencing, gene therapy, CTNNB1
Published in DiRROS: 21.11.2025; Views: 175; Downloads: 69
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420. Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathyStefania Drovandi, Beata Lipska-Zietkiewicz, Fatih Ozaltin, Francesco Emma, Bora Gülhan, Olivia Boyer, Agnes Trautmann, Szymon Ziętkiewicz, Tanja Kersnik-Levart, 2022, original scientific article Abstract: PPrimary Coenzyme Q10 deficiency is a rare mitochondriopathy with a wide spectrum of organ involvement, including steroid-resistant nephrotic syndrome mainly associated with disease-causing variants in the genes COQ2, COQ6 or COQ8B. We performed a systematic literature review, PodoNet, mitoNET, and CCGKDD registries queries and an online survey, collecting comprehensive clinical and genetic data of 251 patients spanning 173 published (47 updated) and 78 new cases. Kidney disease was first diagnosed at median age 1.0, 1.2 and 9.8 years in individuals with disease-causing variants in COQ2, COQ6 and COQ8B, respectively. Isolated kidney involvement at diagnosis occurred in 34% of COQ2, 10.8% of COQ6 and 70.7% of COQ8B variant individuals. Classic infantile multiorgan involvement comprised 22% of the COQ2 variant cohort while 47% of them developed neurological symptoms at median age 2.7 years. The association of steroid-resistant nephrotic syndrome and sensorineural hearing loss was confirmed as the distinctive phenotype of COQ6 variants, with hearing impairment manifesting at average age three years. None of the patients with COQ8B variants, but 50% of patients with COQ2 and COQ6 variants progressed to kidney failure by age five. At adult age, kidney survival was equally poor (20-25%) across all disorders. A number of sequence variants, including putative local founder mutations, had divergent clinical presentations, in terms of onset age, kidney and non-kidney manifestations and kidney survival. Milder kidney phenotype was present in those with biallelic truncating variants within the COQ8B variant cohort. Thus, significant intra- and inter-familial phenotype variability was observed, suggesting both genetic and non-genetic modifiers of disease severity. Copyright (C) 2022, International Society of Nephrology.
Keywords: coenzyme Q10, mitochondria, steroid-resistant nephrotic syndrome
Published in DiRROS: 21.11.2025; Views: 162; Downloads: 82
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