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Povzetek: Background and aims: Cascade familial hypercholesterolemia (FH) screening of parents could reduce the burden cardiovascular disease (CVD) in relatives of index cases by enabling timely diagnosis of FH. Here, we present the positive outcomes of the pilot child-parent cascade screening program in Slovenia. Methods: One hundred and thirty-eight parents from 123 families of an index child with genetically confirmed FH were randomly included in the pilot child-parent cascade screening program. Index children were identified through the universal FH screening program in preschool children. Genetic testing using Sanger sequencing was performed for cascade screening to detect (likely) pathogenic variants, previously confirmed in the index child. Results: The success rate of confirming a (likely) pathogenic variant was 77.2 % when the first parent, preferably with higher total cholesterol levels, was tested, and reached 99.1 % when the variant was identified in the first tested parent or when both parents were tested. In the minority of cases (13.8 %), parents had had a clinical diagnosis of FH prior to their child and these had somewhat higher prevalence of CVD compared to parents that were diagnosed after their index child through the pilot program (12.5 % vs. 4.3 %; p = 0.382). Conclusions: In conclusion, the presented pilot child–parent cascade screening program is feasible in clinical practice and shows a high success rate in identifying parents with FH. Parents diagnosed through the program appeared to have a lower prevalence of CVD. However, larger cohorts are needed to confirm these findings.
Ključne besede: child-parent screening, cascade screening, familial hypercholesterolemia, cardiovascular disease, Slovenia
Objavljeno v DiRROS: 16.12.2025; Ogledov: 93; Prenosov: 51
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Ključne besede: Poplar, Willow, Black Walnut, Black Locust, international commission, FAO, national report, questionnaire, genetics, forest protection, legislation, categorisation, forest products, ecology, Slovenia
Objavljeno v DiRROS: 08.12.2025; Ogledov: 138; Prenosov: 68
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Povzetek: Bacterial vaginosis (BV) is associated with various adverse pregnancy outcomes. It is usually diagnosed via microscopy. Semi-quantitative relative culture (SRC) was investigated as a complementary diagnostic method to determine the prevalence of BV and its association with preterm birth and preterm, premature rupture of membranes (PPROM) in pregnant women in Slovenia. We examined 3437 consecutive vaginal swabs from pregnant women during the five-year period and were able to link the results to 2531 pregnancy outcomes. The isolates were identified using MALDI-TOF, and the results were assessed by the relative amounts of Gardnerella vaginalis and lactobacilli according to two stringency criteria. The prevalence of BV was 6.5% via microscopy and was higher for SRC, 9.9% or 11.1%, depending on the stringency criteria. The association with adverse pregnancy outcomes was better when SRC was used, resulting in adjusted odds ratios of 1.76 (1.30 to 2.37) and 1.97 (1.38 to 2.82) for preterm birth and PPROM, respectively, with more stringent interpretation. Microscopically detected BV was not associated with either outcome. The clinical validity of SRC was demonstrated by its better correlation with adverse pregnancy outcomes in a large cohort of pregnant women. SRC with MALDI-TOF identification is a promising advancement of vaginal culture.
Ključne besede: bacterial vaginosis, culture, microscopy, pregnancy, preterm birth, preterm premature rupture of membranes, Slovenia
Objavljeno v DiRROS: 01.12.2025; Ogledov: 128; Prenosov: 67
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Ključne besede: Slovenia, food consumption survey, dietary intake, adults, adolescents, elderly, EU Menu
Objavljeno v DiRROS: 24.11.2025; Ogledov: 126; Prenosov: 98
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Povzetek: Salt iodisation is considered a key public health measure for assuring adequate iodine intake in iodine-deficient countries. In Slovenia, the iodisation of all salt was made mandatory in 1953. A considerable regulatory change came in 2003 with the mandatory iodisation of rock and evaporated salt only. In addition, joining the European Union's free single market in 2004 enabled the import of non-iodised salt. The objective of this study was to investigate the extent of salt iodising in the food supply. We examined both the availability and sale of (non-)iodised salt. Average sales-weighted iodine levels in salt were calculated using the results of a national monitoring of salt quality. Data on the availability and sales of salts were collected in major food retailers in 2014. Iodised salt represented 59.2% of the salt samples, and 95.9% of salt sales, with an average (sales-weighted) level of 24.2 mg KI/kg of salt. The average sales-weighted KI level in non-iodised salts was 3.5 mg KI/kg. We may conclude that the sales-weighted average iodine levels in iodised salt are in line with the regulatory requirements. However, the regulatory changes and the EU single market have considerably affected the availability of non-iodised salt. While sales of non-iodised salt are still low, non-iodised salt represented 33.7% of the salts in our sample. This indicates the existence of a niche market which could pose a risk of inadequate iodine intake in those who deliberately decide to consume non-iodised salt only. Policymakers need to provide efficient salt iodisation intervention to assure sufficient iodine supply in the future. The reported sales-weighting approach enables cost-efficient monitoring of the iodisation of salt in the food supply.
Ključne besede: salt, sodium, iodine, sales, food supply, Slovenia
Objavljeno v DiRROS: 19.11.2025; Ogledov: 189; Prenosov: 83
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