641. Dietary iron intake and biomarkers of iron status in Slovenian population : results of SI.Menu/nutrihealth studyŽiva Lavriša, Hristo Hristov, Maša Hribar, Barbara Koroušić-Seljak, Matej Gregorič, Urška Blaznik, Katja Zaletel, Adrijana Oblak, Joško Osredkar, Anita Kušar, Katja Žmitek, Mitja Lainščak, Igor Pravst, 2022, izvirni znanstveni članek Povzetek: Inadequate iron intake and iron deficiency are recognised as a public health problem in the population at large, and particularly in specific subpopulations. Dietary iron intake was analysed using data of the national Slovenian food consumption study, SI.Menu (n = 1248 subjects; 10–74 years), while iron status was evaluated with laboratory analyses of blood haemoglobin, serum ferritin, and iron concentration in samples, collected in the Nutrihealth study (n = 280, adults). The estimated daily usual population-weighted mean iron intakes ranged from 16.0 mg in adults and the elderly to 16.7 in adolescents, and were lower in females for all three age groups. The main dietary iron sources in all the age groups were bread and bakery products, meat (products), fruit, and vegetables. The highest prevalence of haemoglobin anaemia was observed in females aged 51–64 years (6.7%). Critically depleted iron stores (ferritin concentration < 15 µg/L) were particularly found in premenopausal females (10.1%). Factors influencing low haemoglobin, ferritin, and iron intake were also investigated. We observed significant correlations between iron status with meat and fish intake, and with iron intake from meat and fish, but not with total iron intake. We can conclude that particularly premenopausal females are the most fragile population in terms of inadequate iron intake and iron deficiency, which should be considered in future research and public health strategies.
Ključne besede: iron, intake, ferritin, haemoglobin, deficiency, EU Menu, Nutrihealth
Objavljeno v DiRROS: 11.11.2025; Ogledov: 180; Prenosov: 92
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642. Dietary intake and status of vitamin B12 in Slovenian populationŽiva Lavriša, Hristo Hristov, Maša Hribar, Katja Žmitek, Anita Kušar, Barbara Koroušić-Seljak, Matej Gregorič, Urška Blaznik, Nadan Gregorič, Katja Zaletel, Adrijana Oblak, Joško Osredkar, Igor Pravst, 2022, izvirni znanstveni članek Povzetek: Vitamin B12 deficiency poses a health concern, especially in vulnerable populations. Dietary vitamin B12 intake was obtained by two 24 h dietary recalls and food propensity questionnaires in a representative Slovenian cross-sectional food consumption survey, SI.Menu (n = 1248 subjects; 10–74 years). For a subgroup of 280 participants, data on serum vitamin B12 were available through the Nutrihealth study. The estimated usual population-weighted mean daily vitamin B12 intakes were 6.2 µg (adults), 5.4 µg (adolescents), and 5.0 µg (elderly). Lower intakes were observed in females. Inadequate daily vitamin B12 intake (<4 µg) was detected in 37.3% of adolescents, 31.7% of adults, and 58.3% elderlies. The significant predictors for inadequate daily vitamin B12 intake were physical activity score in all age groups, sex in adolescents and adults, financial status and smoking in elderly, and employment in adults. Meat (products), followed by milk (products), made the highest vitamin B12 contribution in all age groups. In adolescents, another important vitamin B12 contributor was cereals. The mean population-weighted serum vitamin B12 levels were 322.1 pmol/L (adults) and 287.3 pmol/L (elderly). Low serum vitamin B12 concentration (<148 nmol/L) and high serum homocysteine (>15 µmol/L) were used as criteria for vitamin B12 deficiency. The highest deficiency prevalence was found in elderlies (7.0%), particularly in males (7.9%). Factors associated with high serum homocysteine were also investigated. In conclusion, although vitamin B12 status was generally not critical, additional attention should be focused particularly to the elderly.
Ključne besede: vitamin B12, deficiency, homocysteine, folate, EU menu
Objavljeno v DiRROS: 11.11.2025; Ogledov: 128; Prenosov: 84
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647. Verifying the use of food labelling data for compiling branded food databases : a case study of sugars in beveragesEdvina Hafner, Živa Lavriša, Maša Hribar, Sanja Krušič, Anita Kušar, Katja Žmitek, Mihaela Skrt, Nataša Poklar Ulrih, Igor Pravst, 2022, izvirni znanstveni članek Ključne besede: beverages, reformulation, added sugar, food composition, HPLC, database
Objavljeno v DiRROS: 11.11.2025; Ogledov: 158; Prenosov: 78
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648. Safety and procedural success of daycase-based endovascular procedures in lower extremity arteries of patients with peripheral artery disease : a systematic review and meta-analysisLydia Hanna, Alexander D. Rodway, Puneet Garcha, Luci Maynard, Vinko Boc, 2024, izvirni znanstveni članek Povzetek: Background: Timely and economic provision of revascularisation procedures is a major healthcare need. We aimed to examine the safety and efficacy of daycase-based lower extremity endovascular revascularisation procedures in patients with peripheral artery disease. Methods: In this systematic review and meta-analysis, we searched MEDLINE and Embase for studies from Jan 01, 2000 through Apr 01, 2024 reporting complications of lower limb endovascular revascularisation procedures with same-day discharge. Eligibility-criteria, complications, and patient characteristics were extracted, methodological quality assessed (adapted Newcastle–Ottawa Scale), and meta-analyses of complications and technical success performed to provide pooled estimates. This study is registered with PROSPERO, CRD42022316466. Findings: Thirty observational studies (17 retrospective, 13 prospective) and 1 RCT reported 2427 minor and 653 major complications after 99,600 daycase procedures (93,344 patients). Eighteen studies reported daycase eligibility-criteria including ‘responsible adult companion’ (78%), ‘proximity to hospital’, and ‘telephone availability’ and excluding unstable and severe co-morbidities, offset coagulation, and severe chronic kidney disease. Pooled incidences of minor (4.7% [95% CI 3.8–5.6%], I 2 = 96%) and major (0.64% [95% CI 0.48–0.79%], I 2 = 46%) complications were low and technical success high (93% [95% CI 91–96%], I 2 = 97%). Most complications were related to the puncture site. Pooled conversion-to-hospitalisation rates and re-admission after discharge were 1.6% (95% CI 1.1–2.2%, I 2 = 82%) and 0.11% (95% CI 0.095–0.23%, I 2 = 97%), respectively. Meta-regression identified that minor complications decreased since 2000. Male sex and coronary artery disease were associated with more frequent, and higher age and closure device use with less minor complications. Diabetes mellitus and chronic kidney disease were associated with less major complications. Six studies reported complication rates both in daycases and inpatients and there was no significant difference (−0.8% [95% CI −1.9 to 0.3%]). Interpretation: After careful evaluation of eligibility, lower limb angioplasty can be performed safely with high technical success in a daycase setting. Most complications arise from the puncture site and not the procedure itself highlighting the importance of optimal access site management. The heterogeneity between studies warrants standardised monitoring of complications and outcomes.
Ključne besede: daycase angioplasty, chronic limb-threatening ischaemia, peripheral artery disease, endovascular, technical success
Objavljeno v DiRROS: 10.11.2025; Ogledov: 151; Prenosov: 65
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649. Protective effect of EBF transcription factor 1 (EBF1) polymorphism in sporadic and familial spontaneous preterm birth : insights from a case-control studyTea Mladenić, Jasenka Wagner, Mirta Kadivnik, Nina Pereza, Saša Ostojić, Borut Peterlin, Sanja Dević Pavlić, 2024, izvirni znanstveni članek Povzetek: This study investigated the potential role of specific single-nucleotide polymorphisms (SNPs) in the genes Astrotactin 1 (ASTN1), EBF Transcription Factor 1 (EBF1), Eukaryotic Elongation Factor, Selenocysteine-tRNA Specific (EEFSEC), Microtubule-Associated Serine/Threonine Kinase 1 (MAST1), and Tumor Necrosis Factor Alpha (TNF-α) to assess whether these genetic variants contribute to the risk of spontaneous preterm birth (sPTB). A case-control study was conducted involving 573 women from Croatia and Slovenia: 248 with sporadic sPTB (positive personal and negative family history of sPTB before 37 weeks’ gestation), 44 with familial sPTB (positive personal and family history of sPTB before 37 weeks’ gestation), and 281 control women. The analysis of ASTN1 rs146756455, EBF1 rs2963463, EBF1 rs2946169, EEFSEC rs201450565, MAST1 rs188343966, and TNF-α rs1800629 SNPs was performed using TaqMan real-time PCR. p-values were Bonferroni-adjusted for multiple comparisons. EBF1 SNP rs2963463 was significantly associated with sPTB (p adj = 0.03). Women carrying the CC genotype had a 3–4-times lower risk of sPTB (p adj < 0.0001). In addition, a significant difference in the frequency of the minor C allele was observed when comparing familial sPTB cases with controls (p adj < 0.0001). All other associations were based on unadjusted p-values. The minor T allele of EBF1 SNP rs2946169 was more frequent in sPTB cases overall than in controls, especially in sporadic sPTB (p = 0.045). Similarly, the CC genotype of ASTN1 SNP rs146756455 was more frequent in sporadic sPTB cases compared to controls (p = 0.019). Finally, the TNF-α SNP rs1800629 minor A allele and AA genotype were more common in the familial sPTB group compared to sporadic sPTB and controls (p < 0.05). The EBF1 SNP rs2963463 polymorphism showed a protective effect in the pathogenesis of sPTB, particularly in women carrying the CC genotype. Moreover, EBF1 SNP rs2946169 and ASTN1 SNP rs146756455, as well as TNF-α SNP rs1800629, were associated with an increased risk of sPTB, representing suggestive potential risk factors for sporadic and familial sPTB, respectively.
Ključne besede: preterm birth, single-nucleotide polymorphism, gene, genetic association studies
Objavljeno v DiRROS: 10.11.2025; Ogledov: 177; Prenosov: 81
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650. Atypical Leber Hereditary Optic Neuropathy (LHON) associated with a novel MT-CYB:m.15309T>C(Ile188Thr) variantSanja Petrović Pajić, Ana Fakin, Martina Jarc-Vidmar, Maja Šuštar Habjan, Lucija Malinar, Kasja Pavlovic, Nina Krako Jakovljevic, Marija Volk, Aleš Maver, Gregor Jezernik, Damjan Glavač, Borut Peterlin, Marko Hawlina, 2025, izvirni znanstveni članek Povzetek: Background: The study presents a detailed examination and follow-up of a Slovenian patient with an Leber Hereditary Optic Neuropathy (LHON)-like phenotype and bilateral optic neuropathy in whom genetic analysis identified a novel variant MT-CYB:m.15309T>C (Ile188Thr). Methods: We provide detailed analysis of the clinical examinations of a male patient with bilateral optic neuropathy from the acute stage to 8 years of follow-up. Complete ophthalmological exam, electrophysiology and optical coherence tomography (OCT) segmentation were performed. The genotype analysis was performed with a complete screening of the mitochondrial genome. Furthermore, proteomic analysis of the protein structure and function was performed to assess the pathogenicity of a novel variant of unknown significance. Mitochondrial function analysis of the patient’s peripheral blood mononuclear cells (PBMCs) was performed with the objective of evaluating the mutation effect on mitochondrial function using flow cytometry and high-resolution respirometry. Results: The patient had a profound consecutive bilateral visual loss at 19 years of age due to optic neuropathy with characteristics of LHON; however, unlike patients with typical LHON, the patient experienced a fluctuation in visual function and significant late recovery. He had a total of three visual acuity deteriorations and improvements in the left eye, with concomitant visual loss in the right eye and a final visual acuity drop reaching nadir 9 months after onset. The visual loss was characterized by centrocecal scotoma, abnormal color vision and abnormal VEP, while deterioration of PERG N95 followed with a lag of several months. The OCT examination showed retinal nerve fiber layer thinning matching disease progression. Following a two-year period of legal blindness, the patient’s visual function started to improve, and over the course of 5 years, it reached 0.5 and 0.7 Snellen (0.3 and 0.15 LogMAR) visual acuity (VA). Mitochondrial sequencing identified a presumably pathogenic variant m.15309T>C in the MT-CYB gene at 65% heteroplasmy, belonging to haplogroup K. Mitochondrial function assessment of the patient’s PBMCs showed a lower respiration rate, an increase in reactive oxygen species production and the presence of mitochondrial depolarization, compared to an age- and sex-matched healthy control’s PBMCs. Conclusions: A novel variant in the MT-CYB:m.15309T>C (Ile188Thr) gene was identified in a patient with optic nerve damage and the LHON phenotype without any additional systemic features and atypical presentation of the disease with late onset of visual function recovery. The pathogenicity of the variant is supported by proteomic analysis and the mitochondrial dysfunction observed in the patient’s PBMCs.
Ključne besede: LHON, gene, electrophysiology, retinal segmentation, VA improvement, mitochondrial disfunction, proteomic analysis
Objavljeno v DiRROS: 10.11.2025; Ogledov: 168; Prenosov: 74
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