581. Sustainable food supply in SloveniaSara Bele, Ben Moljk, Maja Kožar, Matej Bedrač, Ajda Bleiweis, Jure Brečko, Špela Pucihar, Tanja Travnikar, Jože Verbič, Barbara Zagorc, Barbara Bernard Vukadin, 2025, strokovna monografija Objavljeno v DiRROS: 17.11.2025; Ogledov: 201; Prenosov: 78
 Celotno besedilo (12,35 MB)
Gradivo ima več datotek! Več... |
582. |
583. Trajnostna oskrba s hrano v SlovenijiSara Bele, Ben Moljk, Maja Kožar, Matej Bedrač, Ajda Bleiweis, Jure Brečko, Špela Pucihar, Tanja Travnikar, Jože Verbič, Barbara Zagorc, Barbara Bernard Vukadin, 2025, strokovna monografija Objavljeno v DiRROS: 17.11.2025; Ogledov: 201; Prenosov: 91
Celotno besedilo (12,38 MB)
Gradivo ima več datotek! Več... |
584. Guideline adherence in febrile children below 3 months visiting European Emergency Departments : an observational multicenter studyChantal D. Tan, Eline E. P. L. van der Walle, Clementien L. Vermont, Ulrich Von Both, Enitan D Carrol, Irini Eleftheriou, Marieke Emonts, Michiel Van der Flier, Ronald De Groot, Marko Pokorn, 2022, izvirni znanstveni članek Povzetek: Febrile children below 3 months have a higher risk of serious bacterial infections, which often leads to extensive diagnostics and treatment. There is practice variation in management due to differences in guidelines and their usage and adherence. We aimed to assess whether management in febrile children below 3 months attending European Emergency Departments (EDs) was according to the guidelines for fever. This study is part of the MOFICHE study, which is an observational multicenter study including routine data of febrile children (0–18 years) attending twelve EDs in eight European countries. In febrile children below 3 months (excluding bronchiolitis), we analyzed actual management compared to the guidelines for fever. Ten EDs applied the (adapted) NICE guideline, and two EDs applied local guidelines. Management included diagnostic tests, antibiotic treatment, and admission. We included 913 children with a median age of 1.7 months (IQR 1.0–2.3). Management per ED varied as follows: use of diagnostic tests 14–83%, antibiotic treatment 23–54%, admission 34–86%. Adherence to the guideline was 43% (374/868) for blood cultures, 29% (144/491) for lumbar punctures, 55% (270/492) for antibiotic prescriptions, and 67% (573/859) for admission. Full adherence to these four management components occurred in 15% (132/868, range 0–38%), partial adherence occurred in 56% (484/868, range 35–77%). Conclusion: There is large practice variation in management. The guideline adherence was limited, but highest for admission which implies a cautious approach. Future studies should focus on guideline revision including new biomarkers in order to optimize management in young febrile children.
Ključne besede: fever, children, pediatrics, guideline, emergency care
Objavljeno v DiRROS: 17.11.2025; Ogledov: 138; Prenosov: 69
Celotno besedilo (917,52 KB)
Gradivo ima več datotek! Več... |
585. Impact of infection on proteome-wide glycosylation revealed by distinct signatures for bacterial and viral pathogensEsther Willems, Jolein Gloerich, Anouk Suppers, Michiel Van der Flier, 2023, izvirni znanstveni članek Povzetek: Mechanisms of infection and pathogenesis have predominantly been studied based on differential gene or protein expression. Less is known about posttrans-lational modifications, which are essential for protein functional diversity. We applied an innovative glycoproteomics method to study the systemic prote-ome-wide glycosylation in response to infection. The protein site-specific glyco-sylation was characterized in plasma derived from well-defined controls and patients. We found 3862 unique features, of which we identified 463 distinct intact glycopeptides, that could be mapped to more than 30 different proteins. Statistical analyses were used to derive a glycopeptide signature that enabled significant differentiation between patients with a bacterial or viral infection. Furthermore, supported by a machine learning algorithm, we demonstrated the ability to identify the causative pathogens based on the distinctive host blood plasma glycopeptide signatures. These results illustrate that glycoproteomics holds enormous potential as an innovative approach to improve the interpreta-tion of relevant biological changes in response to infection.
Ključne besede: plasma, roles, glycoproteomics, biomarkers, profiles, children, glycome
Objavljeno v DiRROS: 17.11.2025; Ogledov: 120; Prenosov: 57
Celotno besedilo (4,99 MB)
Gradivo ima več datotek! Več... |
586. Genetic variability in sodium-glucose cotransporter 2 and glucagonlike peptide 1 receptor effect on glycemic and pressure control in type 2 diabetes patients treated with SGLT2 inhibitors and GLP-1RA in the everyday clinical practiceGašper Tonin, Katja Goričar, Tanja Blagus, Andrej Janež, Vita Dolžan, Jasna Klen, 2025, izvirni znanstveni članek Povzetek: We investigated the impact of genetic polymorphisms in the GLP1R and SLC5A2 genes on the response to treatment with glucagon-like peptide-1 receptor (GLP-1R) agonists and sodium-glucose co-transporter-2 (SLGT2) inhibitors in patients with type 2 diabetes mellitus (T2DM) in everyday clinical practice.In our prospective interventional cohort open-label real-world genetic association study (DRKS-ID: DRKS00034478, https://drks.de/search/en/trial/DRKS00034478), we enrolled 161 clinically well-defined T2DM patients who received SGLT2 inhibitors and/or GLP-1R agonists alongside other medications for 3-6 months. The study's primary outcomes (HbA1c, body mass, and blood pressure) were measured before the treatment and at the follow-up at 3-6 months. GLP1R rs6923761, rs10305420, and SLC5A2 rs9934336 genotypes were determined by competitive allelespecific polymerase chain reaction. In patients receiving GLP-1R agonists, we analyzed the effect of GLP1R polymorphisms on the patients' response to treatment, while in patients receiving SGLT2 inhibitors, we analyzed the impact of the SLC5A2 polymorphism on the treatment effect.Treatment with prescribed antihyperglycemic drugs improved all primary outcomes (p < 0.050). The normal GLP1R rs6923761 G allele was associated with a greater reduction in HbA1c with GLP-1R agonists treatment than the polymorphic A allele in the dominant model (p = 0.029).The prevalent polymorphic A allele of GLP1R rs6923761 polymorphism was associated with the clinically relevant lower glycemic response to GLP-1R agonists. The described impact extends to everyday clinical practice, indicating that knowledge of these genetic polymorphisms could facilitate the development of targeted and personalized therapy in managing T2DM.
Ključne besede: polymorphism, type 2 diabetes, treatment response
Objavljeno v DiRROS: 17.11.2025; Ogledov: 140; Prenosov: 69
Celotno besedilo (740,73 KB)
Gradivo ima več datotek! Več... |
587. Genomic reanalysis of a pan-European rare-disease resource yields new diagnosesSteven Laurie, Wouter Steyaert, Elke De Boer, Kiran Polavarapu, Nika Schuermans, Anna K. Sommer, German Demidov, Aleš Maver, Borut Peterlin, 2025, izvirni znanstveni članek Povzetek: Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree and genomic rare-disease data (94.5% exomes, 5.5% genomes), and performed systematic reanalysis for 6,447 individuals (3,592 male, 2,855 female) with previously undiagnosed rare diseases from 6,004 families. We established a collaborative, two-level expert review infrastructure that allowed a genetic diagnosis in 506 (8.4%) families. Of 552 disease-causing variants identified, 464 (84.1%) were single-nucleotide variants or short insertions/deletions. These variants were either located in recently published novel disease genes (n = 67), recently reclassified in ClinVar (n = 187) or reclassified by consensus expert decision within Solve-RD (n = 210). Bespoke bioinformatics analyses identified the remaining 15.9% of causative variants (n = 88). Ad hoc expert review, parallel to the systematic reanalysis, diagnosed 249 (4.1%) additional families for an overall diagnostic yield of 12.6%. The infrastructure and collaborative networks set up by Solve-RD can serve as a blueprint for future further scalable international efforts. The resource is open to the global rare-disease community, allowing phenotype, variant and gene queries, as well as genome-wide discoveries.
Ključne besede: rare diseases, identification, interpretation, genetic diagnosis, genomic variants
Objavljeno v DiRROS: 17.11.2025; Ogledov: 122; Prenosov: 73
Celotno besedilo (10,60 MB)
Gradivo ima več datotek! Več... |
588. Postnatal levels of glycated albumin and glycated hemoglobin A1c in mothers of large-for-gestational-age newbornsMojca Železnik, Alenka Trampuš-Bakija, Darja Paro Panjan, Aneta Soltirovska Šalamon, 2024, izvirni znanstveni članek Povzetek: Background: Gestational diabetes mellitus (GDM) is an important cause of macrosomia. The value of glycated albumin (GlyA) has been demonstrated to be a useful marker of glycemic control in pregnancy and a predictor of adverse perinatal outcomes. The aim of this study was to investigate the relationship between the postnatal levels of GlyA and glycated hemoglobin A1c (HbA1c) regarding the prenatal diagnosis of GDM in mothers of large-for-gestational-age (LGA) newborns. Methods: The study included mothers and their LGA newborns born between July 2017 and September 2019. The mothers were grouped according to the prenatal diagnosis of GDM, and measurements of GlyA and HbA1c levels in their serum were performed on the first day after delivery of a LGA newborn. Results: A total of 61 LGA newborns and their mothers were enrolled in the study. The median GlyA level was higher, at 16.4% (81.0 µmol/L), whereas the HbA1c level was lower in the group without a prenatal diagnosis of GDM; the differences between groups regarding the GlyA and HbA1c levels were not significant (p > 0.05). The postnatal level of maternal GlyA was positively correlated with birth weight (β = 0.022, p = 0.007), but no correlation with the presence of other adverse perinatal outcomes was found. Conclusion: Mothers of LGA newborns who were not diagnosed with GDM during pregnancy had higher median levels of GlyA and lower HbA1c levels than mothers with prenatal diagnosis of GDM. Values of GlyA in mothers were positively correlated with the birth weight of their newborns but no correlation with other adverse perinatal outcomes was found. Our results indicate the potential value of GlyA for screening of GDM in the last trimester of pregnancy.
Ključne besede: gestational diabetes mellitus, glycated albumin, glycated hemoglobin, large for gestational age, newborn
Objavljeno v DiRROS: 17.11.2025; Ogledov: 155; Prenosov: 71
Celotno besedilo (423,92 KB)
Gradivo ima več datotek! Več... |
589. Overall hemostatic potential as a marker of subclinical hypercoagulability in treated psoriasis patientsEva Klara Merzel Šabović, Tadeja Kraner Šumenjak, Mojca Božič Mijovski, Miodrag Janić, 2025, izvirni znanstveni članek Povzetek: Background: Psoriasis is associated with increased cardiovascular risk, possibly mediated by inflammation-induced hemostatic dysregulation and hypercoagulability. However, these changes are often difficult to detect with conventional markers. Objectives: To assess hypercoagulability in patients with psoriasis using the Overall Hemostatic Potential (OHP) test, a global integrative test for coagulation and fibrinolysis. Methods: We studied 80 psoriasis patients (54 men, 26 women, aged 30– 45 years) receiving effective topical or systemic treatments (methotrexate, adalimumab, secukinumab or guselkumab) and compared them with 20 healthy controls. We measured OHP, its components — overall coagulation potential (OCP) and overall fibrinolytic potential (OFP) and selected hemostatic markers (platelet count, mean platelet volume, platelet-to-lymphocyte ratio, P-selectin, D-dimer and fibrinogen). Results: Psoriasis patients had significantly higher OHP levels, primarily due to decreased OFP, while OCP levels were comparable to the control group — indicating a hypercoagulable state due to impaired fibrinolysis. Other conventional hemostatic markers showed no significant differences. OHP and OFP correlated with residual inflammatory activity, BMI, waist circumference, visceral adiposity and fibrinogen levels, suggesting a relationship between subclinical inflammation, metabolic parameters and hemostatic imbalance. Conclusion: The OHP test reveals a hypercoagulable state in psoriasis patients even in the absence of abnormal standard coagulation markers. OHP could be a practical and sensitive tool to stratify cardiovascular risk in psoriasis, especially in patients with concomitant metabolic disease or persistent inflammation.
Ključne besede: psoriasis, hypercoagulability, overall hemostatic potential, OHP, fibrinolysis, obesity
Objavljeno v DiRROS: 17.11.2025; Ogledov: 156; Prenosov: 64
Celotno besedilo (1,91 MB)
Gradivo ima več datotek! Več... |
590. Sex differences in cholesterol levels among prepubertal childrenJan Kafol, Mia Becker, Barbara Čugalj Kern, Jaka Šikonja, Matej Mlinarič, Katarina Sedej, Matej Kafol, Ana Drole Torkar, Jernej Kovač, Tadej Battelino, Urh Grošelj, 2025, izvirni znanstveni članek Povzetek: Background and aims: Sex differences in cholesterol levels are well documented in adults and adolescents, but limited data exist for prepubertal children. This study aimed to evaluate innate sex differences in total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-C) levels among prepubertal children, both in the general population and among those with familial hypercholesterolemia (FH). Methods: This cross-sectional study used data from Slovenia’s Universal FH Screening Program. Two populationbased random samples of children undergoing routine cholesterol screening at age 5 years were included from 2014 (N = 3412) and 2023 (N = 4182). In addition, a referred cohort from the Slovenian Hypercholesterolemia Registry (n = 1160, aged <10 years) who underwent genetic testing was analyzed. Results: In both the 2014 and 2023 cohorts, girls had significantly higher TC levels than boys (median difference: 0.10–0.11 mmol/L; p < 0.05). Among FH-negative children in the Registry, girls had on average 0.14 mmol/L higher TC and 0.13 mmol/L higher LDL-C than boys (both p < 0.05). No sex differences were observed in FHpositive children (p = 0.83 for TC; p = 0.82 for LDL-C). In the overall Registry cohort, after adjusting for FH status, girls had 0.11 mmol/L higher TC and 0.10 mmol/L higher LDL-C (both p < 0.05). Conclusion: Prepubertal girls have modestly higher TC and LDL-C than boys, a difference not observed in prepubertal FH-positive children, suggesting that the presence of a pathogenic FH variant may override innate physiological differences in lipid metabolism. These findings support universal early cholesterol screening and suggest that sex-specific reference values may improve early cardiovascular risk assessment in prepubertal FHnegative children.
Ključne besede: sex differences, prepubertal children, total cholesterol, low-density lipoprotein cholesterol, familial hypercholesterolemia
Objavljeno v DiRROS: 17.11.2025; Ogledov: 160; Prenosov: 81
Celotno besedilo (3,40 MB)
Gradivo ima več datotek! Več... |
