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Povzetek: ewborn screening for Phenylketonuria enables early detection and timely treatment with a phenylalanine-restricted diet to prevent severe neurological impairment. Although effective and in use for 60 years, screening, diagnostic, and treatment practices still vary widely across countries and centers. To evaluate the Phenylketonuria newborn screening practices internationally, we designed a survey with questions focusing on the laboratory aspect of the screening system. We analyzed 24 completed surveys from 23 countries. Most participants used the same sampling age range of 48–72 h; they used tandem mass spectrometry and commercial non-derivatized kits to measure phenylalanine (Phe), and had non-negative cut-off values (COV) set mostly at 120 µmol/L of Phe. Participants mostly used genetic analysis of blood and detailed amino acid analysis from blood plasma as their confirmatory methods and set the COV for the initiation of dietary therapy at 360 µmol/L of Phe. There were striking differences in practice as well. While most participants reported a 48–72 h range for age at sampling, that range was overall quite diverse Screening COV varied as well. Additional screening parameters, e.g., the phenylalanine/tyrosine ratio were used by some participants to determine the screening result. Some participants included testing for tetrahydrobiopterin deficiency, or galactosemia in their diagnostic process. Results together showed that there is room to select a best practice from the many practices applied. Such a best practice of PKU-NBS parameters and post-screening parameters could then serve as a generally applicable guideline.
Ključne besede: phenylketonuria, newborn, neonatal, screening, international, survey, laboratory, methods, cut-off
Objavljeno v DiRROS: 04.12.2025; Ogledov: 41; Prenosov: 20
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Ključne besede: Slovenia, food consumption survey, dietary intake, adults, adolescents, elderly, EU Menu
Objavljeno v DiRROS: 24.11.2025; Ogledov: 98; Prenosov: 71
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Ključne besede: 25(OH)vitamin D, biomarkers, dietary survey, public health, EU Menu, Slovenia, Europe
Objavljeno v DiRROS: 18.11.2025; Ogledov: 143; Prenosov: 103
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Povzetek: Background: The SI.Menu study offers the latest data on the dietary intake of Slovenian adolescents aged 10 to 17. The purpose of this study is to comprehensively assess their dietary intake (energy and nutrients) and compare their food intakes with dietary recommendations for healthy and sustainable diets. Methods: The cross-sectional epidemiological dietary study SI.Menu (March 2017–April 2018) was conducted on a representative sample of Slovenian adolescents aged 10 to 17 years (n = 468) (230 males and 238 females). Data on dietary intake were gathered through two nonconsecutive 24 h recalls, in line with the European Food Safety Authority (EFSA) EU Menu methodology. The repeated 24 h Dietary Recall (HDR) and Food Propensity Questionnaire (FPQ) data were combined to determine the usual intakes of nutrients and food groups, using the Multiple Source Method (MSM) program. Results: Adolescents’ diets significantly deviate from dietary recommendations, lacking vegetables, milk and dairy products, nuts and seeds, legumes, and water, while containing excessive meat (especially red meat) and high-sugar foods. This results in insufficient intake of dietary fibre, and nutrients such as vitamin D, folate, and calcium. Conclusions: The dietary intake of Slovenian adolescents does not meet healthy and sustainable diet recommendations. This study provides an important insight into the dietary habits of Slovenian adolescents that could be useful for future public health strategies.
Ključne besede: nutrient intake, energy intake, dietary intake, adolescents, 24 h recall, FPQ, dietary survey, Slovenia, sustainable diet
Objavljeno v DiRROS: 10.11.2025; Ogledov: 129; Prenosov: 73
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Povzetek: The Adriatic–Ionian region is seismically very active and poses a major challenge for risk mitigation. Each country has developed laws, standards, and techniques to reduce seismic vulnerability. The ADRISEISMIC project created a database of existing regulatory and incentive frameworks, based on a comprehensive study conducted in six countries. The study covered seismic norms, building regulations, urban planning regulations, incentive frameworks, and post-earthquake planning. A comparative matrix was developed in which key parameters, such as year of issuance, references to EU regulations, level of enforcement, mandatory status, target groups, reference period in relation to earthquake occurrence, and consideration of cultural heritage, were analyzed. The database aims to support a harmonized strategy to reduce seismic vulnerability by promoting measures based on common reference standards. This increases safety, improves the built environment, and minimizes risks to people and nature. Particular attention will be paid to historic urban areas that are both vulnerable and rich in cultural heritage. The collected regulatory and incentive framework will serve as a basis for future research to support the identification of good practices and the formulation of customized roadmaps to apply them to reduce seismic vulnerability.
Ključne besede: seismic vulnerability, regulatory and incentive frameworks, survey, seismic norms, building regulation, urban planning regulation, seismic incentive frameworks, post-earthquake planning, adriatic–ionian region, collection and systematization of documents
Objavljeno v DiRROS: 27.08.2025; Ogledov: 323; Prenosov: 228
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