Kliničko Bolnički Centar Zvezdara

BackgroundThis study aimed to adapt the Facioscapulohumeral Muscular Dystrophy - Health Index (FSHD-HI) for Serbian patients with facioscapulohumeral muscular dystrophy (FSHD) in order to measure their disease burden.Patients and methodForty-one patients with genetically confirmed FSHD1 were included in the study. Validation involved reliability analysis (internal consistency), content validity, construct validity, and criterion validity analyses. The Comprehensive Clinical Evaluation Form (CCEF) was employed to capture various FSHD phenotypes. All patients completed the Serbian version of the Short Form Health Survey (SF-36) questionnaire, serving as a generic measure of the health-related quality of life (QoL).ResultsAll patients found Serbian version of FSHD-HI (FSHD-HI-RS) understandable and that the language was appropriate and simple. The internal consistency of FSHD-HI-RS was excellent for the whole questionnaire (Cronbach’s alpha >0.90). Test–retest reliability met the required level (intraclass correlation coefficient 0.91). FSHD-HI scores showed significant correlations with disease duration (rho = 0.564, p < 0.01), muscle strength measured with Medical Research Council (MRC) sum score (rho = −0.708, p < 0.01), and CCEF (rho = +0.716, p < 0.01). FSHD-HI total score correlated significantly with the total SF-36 score (rho = −0.733, p < 0.01).ConclusionOur data demonstrate that FSHD-HI-RS is an understandable, reliable, and valid measure of the disease burden in FSHD. It is easy to administer and complete, and it can capture disease-specific features that may be omitted with generic QoL questionnaires.

Background: Artificial intelligence is emerging as a promising tool in surgical oncology, with growing evidence suggesting potential applications in diagnostic support, intraoperative guidance, and perioperative risk assessment. In gastric cancer surgery, emerging applications range from AI-assisted endoscopic detection to data-driven perioperative risk prediction, while some technological developments, particularly in robotic autonomy, derive from broader surgical or experimental models that may inform future gastric procedures. Methods: A narrative review was conducted following established methodological standards, including the Scale for the Assessment of Narrative Review Articles (SANRA) and the Search-Appraisal-Synthesis-Analysis (SALSA) framework. English-language studies indexed in PubMed, Scopus, Embase, and Web of Science up to October 2025 were included. Evidence was synthesized thematically across five domains: AI-assisted anatomical recognition and lymphadenectomy support, autonomous robotic systems, early cancer detection, perioperative predictive and frailty models, and ethical and regulatory considerations. Results: AI-based computer vision and deep learning algorithms have demonstrated promising capabilities for real-time anatomical recognition, surgical phase classification, and intraoperative guidance, although evidence of direct patient-level benefit remains limited. In diagnostic settings, AI-assisted endoscopy and Raman spectroscopy have been shown to improve early lesion detection and reduce dependence on operator experience. Predictive models, including MySurgeryRisk and AI-driven frailty assessments, may support individualized prehabilitation planning and perioperative risk stratification. Persistent limitations include small and heterogeneous datasets, insufficient external validation, and unresolved concerns related to data privacy, algorithmic interpretability, and medico-legal responsibility. Conclusions: Artificial intelligence is progressively emerging as a promising tool in gastric cancer surgery, integrating automation, advanced analytics, and human clinical reasoning. Its safe and ethical adoption requires robust validation, transparent governance, and continuous surgeon oversight. When developed within human-centered and ethically grounded frameworks, AI can augment, rather than replace, surgical expertise, potentially advancing precision, safety, and equity in oncologic care.

Background/Objectives: Vedolizumab (VDZ), a monoclonal antibody targeting α4β7 integrin, is used in Crohn's disease (CD) management, yet patients' responses vary, underscoring the need for pharmacogenomic (PGx) markers. This study aimed to identify PGx pathways associated with suboptimal VDZ response using a rare-variant analytical framework. Methods: DNA from 63 CD patients treated with VDZ as first-line advanced therapy underwent whole-exome sequencing. Clinical response at week 14 classified patients as optimal responders (ORs) or suboptimal responders (SRs). Sequencing data were processed using GATK Best Practices, annotated with variant effect predictors, and filtered for rare damaging variants (damaging missense and high-confidence loss-of-function; minor allele frequency < 0.05). Variants were mapped to genes specific for SRs and ORs, and analyzed for pathway enrichment using the Reactome database. Rare-variant burden and composition differences were assessed with Fisher's exact test and SKAT-O gene-set association analysis. Results: Suboptimal VDZ response was associated with pathways related to membrane transport (ABC-family proteins, ion channels), L1-ankyrin interactions, and bile acid recycling, while optimal response was associated with pathways involving MET signaling. SKAT-O identified lipid metabolism-related pathways as significantly different-SRs harbored variants in pro-inflammatory lipid signaling and immune cell trafficking genes (e.g., PIK3CG, CYP4F2, PLA2R1), whereas ORs carried variants in fatty acid oxidation and detoxification genes (e.g., ACADM, CYP1A1, ALDH3A2, DECR1, MMUT). Conclusions: This study underscores the potential of exome-based rare-variant analysis to stratify CD patients and guide precision medicine approaches. The identified genes and pathways are potential PGx markers for CD patients treated with VDZ.

A minority of individuals who consume excessive alcohol develop cirrhosis. Variants in the patatin-like phospholipase domain-containing protein 3 gene (PNPLA3) and the transmembrane 6 superfamily member 2 gene (TM6SF2) have been previously identified as associated with alcohol-related cirrhosis (ALC). This study aimed to examine the variants of PNPLA3andTM6SF2and to develop and assess a polygenic risk score (PRS) for ALC. We enrolled 118 patients diagnosed with ALC and 131 control subjects, who were either abstainers or low-level alcohol consumers without evidence of liver disease. Genotyping of risk variants was performed using PCR-RFLP methodology. PRS, based on independent allelic effect size estimates from genotyped genetic loci, were computed and compared across groups. The development of ALC was significantly associated with CG and GG genotypes of PNPLA3(CG: OR: 1.82; 95% CI: 1.05-3.17; p=0.033; GG: OR: 7.64; 95% CI: 3.06-19.07; p<0.001) and the CT genotype of TM6SF2(OR: 2.43; 95% CI: 1.27-4.63; p=0.007), controlling for age and sex. Patients with cirrhosis exhibited a significantly higher mean PRS compared to controls (0.32 vs. 0.167, p= 1.8e-07). The odds ratios (ORs) and 95% confidence intervals for the group with the highest PRS score compared to the reference group were 6.707; 95% CI: 3.313-13.581, p<0.001. In our ALC patient cohort, the PNPLA3rs738409 and TM6SF2rs58542926 variants were associated with an increased risk of ALC development. Moreover, the PRS derived from these two variants effectively identified the genetic components linked to cirrhosis within the study population.

Background/Objectives: Osteoarthritis is a slowly evolving joint disorder defined by cartilage degradation, synovial inflammation, subchondral bone hardening, and the growth of osteophytes. Increasing evidence highlights the role of metabolic factors in osteoarthritis onset and progression. This study investigated the link between metabolic syndrome and the level of knee impairment in postmenopausal respondents suffering from knee osteoarthritis. Methods: A total of 200 participants aged 60–75 years with knee pain were enrolled in this observational cross-sectional study conducted between 2022 and 2023. The case group comprised 120 women with radiographically verified knee osteoarthritis (Kellgren–Lawrence grades II–IV), while 80 age-matched women without radiographic changes served as controls. Clinical and anthropometric measures, metabolic indicators, and radiographic findings were collected. Functional status was assessed using the Lower Extremity Functional Scale and the Lequesne Index. Results: The groups differed significantly with respect to the presence of metabolic syndrome, diastolic blood pressure, and fasting glucose level (p < 0.05). The metabolic syndrome showed modest but significant associations with radiographic knee damage (effect size 4.7%). After adjusting for smoking status and physical activity level, metabolic syndrome remained significantly associated with radiographic damage (effect sizes: 4.8 and 2.2%, respectively). Participants with osteoarthritis but without metabolic syndrome had better functional knee status compared to those with metabolic syndrome (p < 0.05). Conclusions: In postmenopausal women, metabolic syndrome is independently associated with radiographic knee damage and contributes to poorer functional outcomes in participants with knee osteoarthritis, underscoring its potential role as a modifiable risk factor.

Background/Objectives: The COVID-19 pandemic imposed immense stress on healthcare systems worldwide, significantly affecting the mental well-being of healthcare workers (HCWs). This study examined the sociodemographic, occupational, and COVID-19-related predictors of burnout syndrome among Serbian HCWs. Methods: A cross-sectional survey of 400 doctors and nurses utilized the Maslach Burnout Inventory to assess emotional exhaustion, depersonalization, and personal accomplishment. Sociodemographic, work-related, and COVID-19-related data were collected via a questionnaire. Results: Key predictors of emotional exhaustion included female gender, inadequate rest, sleep disturbances, and frontline COVID-19 work. Depersonalization was associated with fewer children, temporary employment, and COVID-19 frontline duties. Conversely, older age, religiosity, larger households, and a higher socioeconomic status positively correlated with personal accomplishment. Conclusions: These findings emphasize the urgent need for targeted interventions, including improved working conditions and mental health support, to reduce burnout and enhance HCWs' well-being during medical crises.

Introduction. Compliance to medicamentous therapy in glaucoma patients if of great importance since it has great effect on clinical outcome. Methods. The descriptive cross-sectional study included patients (303) referred for diagnostic procedures and follow up examinations at the glaucoma outpatient clinic of the University Clinical Center of Serbia University Eye Hospital, in the period from January 2023 to January 2024. The study included glaucoma patients older than 18 years, who have been taking therapy for more than a month. Patients were asked questions about the use of topical antiglaucoma medications. Statistical analysis was performed in SPSS 18 using t test. A p value of less than 0.05 was considered statistically significant. Results. 303 glaucoma patients were included in the study, of which 120 (39.6%) were men, and 183 (60.4%) women. The average age was 67.4 ? 12.6 years (19-92). The average duration of therapy was 7.1 ? 5.8 years (one month to 30 years). The largest number of patients, 177 of them (58.4%) stated that they regularly use the prescribed therapy. Conclusion. Our study showed a high degree of reported compliance of the tested patients, which is significant for the correct choice of therapeutic modalities in the future, which would slow down the progression of this incurable disease.