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- Sitosterolemia In iberoamerican countries: 16 new cases and phenotype genotype analysisPublication . Alves, Ana Catarina; Chora, Joana Rita; Miranda, Beatriz; Medeiros, Ana Margarida; Graça, Rafael; Bañares, Virginia G.; Araujo, Maria Beatriz; Vilagut, Ferrán Trías; Soler, Cristina; Meavilla, Silvia; Toledo, Maria J. Benitez; Volpe, Camila Garcia; Reyes, Ximena; Dell'Oca, Nicolás; Martins, Paula; Marado, Diana; Vilarinho, Laura; Dias, Aureliano Jorge; Ferreira, Ana Cristina; Padeira, Gonçalo; Casañas, Marta; Alegre-González, Diana; Lozano, José Mosquera; Aguiar, Patrício; Gonçalves, Filipa Sousa; Ernaga, Ander; Apellaniz-Ruiz, Maria; Rubi, Rodrigo; Figueroa, Nahún Muñoz; Vasquez, Norma Alejandra; Valdivielso, Pedro; Bourbon, Mafalda; ElsevierBackground: Sitosterolemia is a rare autosomal recessive lipid disorder caused by biallelic pathogenic variants in ABCG5 or ABCG8 genes. It is characterized by elevated plasma plant sterol concentrations, xanthomas, and an increased risk of premature cardiovascular disease. As happens with familial hypercholesterolemia (FH), sitosterolemia is subdiagnosed and is frequently confounded with FH, resulting in inappropriate management. This study aims to describe newly identified cases across Iberoamerican countries and to highlight the need for improved diagnostic strategies. Methods: We report 16 cases of molecularly confirmed sitosterolemia from 5 Iberoamerican countries (Argentina, Mexico, Portugal, Spain, and Uruguay), including 12 index cases and 4 relatives identified by cascade screening. Clinical, biochemical, and molecular data were collected and analyzed. β-sitosterol levels were measured when possible, and variant classification followed American College of Medical Genetics and Genomics (ACMG) guidelines with disease-specific adaptations. Results: Fifteen individuals had biallelic variants in ABCG8 and 1 had a homozygous frameshift variant in ABCG5. Ten distinct ABCG8 variants were identified, including 7 nonsense and 3 missense variants. Xanthomas were observed in 56% of cases. Most cases were initially diagnosed as FH, with a diagnostic delay of up to 30 years. Treatment with ezetimibe, alone or combined with statins, led to biochemical and clinical improvement, including xanthoma regression in some cases. Conclusion: Sitosterolemia remains underdiagnosed due to lack of systematic screening and clinical overlap with FH. Our findings highlight the importance of including ABCG5/8 in genetic testing panels and of recognizing clinical clues for early diagnosis, enabling targeted treatment and prevention of adverse outcomes. Adapted ACMG variant classification improves interpretability for ABCG5/8-related sitosterolemia.
- Translon: a single term for translated regionsPublication . Świrski, Michał I.; Tierney, Jack A. S.; Albà, M. Mar; Andreev, Dmitry E.; Aspden, Julie L.; Atkins, John F.; Bassani-Sternberg, Michal; Berry, Marla J.; Biffo, Stefano; Boris-Lawrie, Kathleen; Borodovsky, Mark; Brierley, Ian; Brook, Matthew; Brunet, Marie A.; Janusz M. Bujnicki; Caliskan, Neva; Calviello, Lorenzo; Carvunis, Anne-Ruxandra; Cate, Jamie H. D.; Cenik, Can; Chang, Kung Yao; Chen, Yiwen; Chothani, Sonia; Choudhary, Jyoti S.; Clark, Patricia L.; Clauwaert, Jim; Cooley, Lynn; Dassi, Erik; Dean, Kellie; Diaz, Jean-Jacques; Dieterich, Christoph; Dikstein, Rivka; Dinman, Jonathan D.; Dmitriev, Sergey E.; Dontsova, Olga A.; Dunham, Christine M.; Eswarappa, Sandeep M.; Farabaugh, Philip J.; Faridi, Pouya; Fierro-Monti, Ivo; Firth, Andrew E.; Gatfield, David; Gebauer, Fátima; Gelfand, Mikhail S.; Gray, Nicola K.; Green, Rachel; Hill, Chris H.; Hou, Ya-Ming; Hübner, Norbert; Ignatova, Zoya; Ivanov, Pavel; Iwasaki, Shintaro; Johnson, Rory; Jomaa, Ahmad; Jovanovic, Marko; Jungreis, Irwin; Kellis, Manolis; Kieft, Jeffrey S.; Kochetov, Alex V.; Koonin, Eugene V.; Korostelev, Andrei A.; Kufel, Joanna; Kulakovskiy, Ivan V.; Kurian, Leo; Lafontaine, Denis L. J.; Larsson, Ola; Loughran, Gary; Lukeš, Julius; Mariotti, Marco; Martens-Uzunova, Elena S.; Martinez, Thomas F.; Matsumoto, Akinobu; McManus, Joel; Medenbach, Jan; Melnikov, Sergey V.; Menschaert, Gerben; Merchante, Catharina; Mikl, Martin; Miller, W. Allen; Mühlemann, Oliver; Namy, Olivier; Nedialkova, Danny D.; Nosek, Jozef; Orchard, Sandra; Ozretić, Petar; Pertea, Mihaela; Pervouchine, Dmitri D.; Romão, Luísa; Ron, David; Roucou, Xavier; Rubtsova, Maria P.; Ruiz-Orera, Jorge; Saghatelian, Alan; Salzberg, Steven L.; Seale, Lucia A.; Seoighe, Cathal; Sergiev, Petr V.; Shah, Premal; Shirokikh, Nikolay; Slavoff, Sarah A.; Sonenberg, Nahum; Stasevich, Timothy J.; Szczesny, Roman J.; Tamm, Tiina; Tchórzewski, Marek; Topisirovic, Ivan; Tremblay, Michel L.; Tuller, Tamir; Ulitsky, Igor; Valášek, Leoš Shivaya; Van Damme, Petra; Viero, Gabriella; Vizcaino, Juan Antonio; Vogel, Christine; Wallace, Edward W. J.; Weissman, Jonathan S.; Westhof, Eric; Whiffin, Nicola; Wilson, Daniel N.; Xie, Zhi; Yewdell, Jonathan W.; Yordanova, Martina M.; Yu, Chien-Hung; Yurchenko, Vyacheslav; Zagrovic, Bojan; TRANSLACORE; Baranov, Pavel V.; Valen, EivindNo abstract available
- Contribution of Updating the Portuguese Food Composition Table to Healthy and Sustainable Food ChoicesPublication . Ravasco, Francisco; Dias, Maria da GraçaBackground and Objectives: Portuguese Food Composition Table (FCT) is an essential tool for healthcare professionals, researchers, food industry, and consumers, providing detailed information on the nutritional value of foods. In the current context, where the promotion of healthier and more sustainable diets is a priority, the continuous updating of the FCT is indispensable to accurately reflect changes in food production, product reformulation, and consumption patterns. This work aims to highlight the priorities of updating the Portuguese FCT in order to fill gaps in existing data. Method: The update of the FCT is a continuous and internationally harmonized process, using FoodCASE® software, which is used by nine countries and various European projects following EuroFIR requirements. Data are generated according to EuroFIR standards, ensuring quality and comparability. The inclusion of new foods is based on the National Food and Physical Activity Survey (2015-2016), with a special focus on plant-based foods, following dietary tendencies and identifying gaps. Laboratory analyses are conducted at the National Institute of Health Doutor Ricardo Jorge, using samples representative of national consumption. New foods are compiled using analytical data, extrapolation from analogous foods, international databases, and nutritional labelling. Results: Identification of new foods has been based on the National Food and Physical Activity Survey (2015-2016), with a focus on those consumed by individuals following a vegetarian diet. The new version of the FCT (v 7.0 - 2025) will include 1339 foods, classified in FoodEX2 up to the 3rd level and 50 components/nutrients, will include results for iodine and selenium and for the first time results for 6 carotenoids in vegetables and fruits. Introduces 9 new foods and 1417 changes, including descriptions, removal of obsolete items, addition of edible portions, and value updates, considering the reduction of salt, sugars, and saturated fats in line with public health guidelines and industry trends. FCT is freely available online, allows searches by keyword, food group, components, and alphabetical list, nutritional comparisons between foods within the same or different groups. Conclusions: Updating the FCT is a fundamental step to ensure the quality and reliability of the nutritional information available. Regular updates will help guide public policy, support nutrition research, and promote healthier, more sustainable food choices. Strengthening international cooperation and leveraging new technologies for data collection and analysis will be key to ensuring a robust and up-to-date food composition database.
- Establishing an EFSA open-access European Food Composition Database (EU FCDB) in EuropePublication . Finglas, P.; Roe, M.; Astley, S.; Kadvan, A.; Milesevic, J.; Costa, H.S.; Dias, M.G.; Toxopeu, I.; Livaniou, A.; Presser, K.; Czack, J.; Reinivuo, H.Background and objectives: The establishment of an EFSA (European Food Safety Authority) open-access European food composition database (EU FCDB) represents a critical advancement in standardising and harmonising food composition data across Europe. The EFSA EU FCDB aims to provide high-quality, comprehensive, and regularly updated nutritional data to support public health policies, dietary assessments, food safety regulations, and risk assessments. By offering a centralised and scientifically robust resource, supported by national compilers, it ensures consistency in nutrient data across Member States and enhances the accuracy of dietary intake evaluations. It also fosters cooperation between EFSA, international networks, and data users. Methods: Key components include the integration of sixteen national food composition datasets in Europe, adherence to standardised methodologies for data collection and quality assurance, and incorporation of analytical, calculated, and estimated values for the nutrient content of key foods, fortified products, and dietary supplements. Addressing challenges in data completeness and consistency has necessitated use of validated recipe calculations, yield and retention factors, and imputation methods for missing values. Additionally, the project advocates for identification and prioritisation of key foods, ensuring representation of the most nutritionally significant foods. Expanding food classification coverage is also vital to accommodate emerging trends such as plant-based diets, reformulated products, novel food sources, and other datasets such as those describing climate impact of foods and food systems. Results: Technical solutions for data submission, retrieval, and interoperability are fundamental for success. Recommendations include implementing standardised data formats using FoodEx2, developing automated validation and harmonisation, and providing mechanisms for downloading. These improvements will support stakeholders by enabling integration of data into dietary monitoring tools, risk assessment models, and public health surveillance systems. Conclusions: The EFSA EU FCDB will serve as a pivotal resource for researchers, policymakers, public health authorities, and industry professionals, facilitating evidence-based decisionmaking, nutrition policy development, and consumer education. By fostering data transparency, accessibility, and methodological rigor, this database can significantly enhance the accuracy of dietary intake assessments and contribute to improved nutritional monitoring, food safety measures, and public health outcomes across Europe.
- Approach and Resources for the Sustainable Update of the Portuguese Food Composition Database: A Multi-Source and Collaborative StrategyPublication . Dias, Maria da GraçaBackground and Objectives: The National Institute of Health Doutor Ricardo Jorge (INSA) compiles the Portuguese Food Composition Database (FCDB). Since the first edition in 1961, formats, components, data sources, and management have evolved. Participation in the EuroFIR Network (2005–2010) helped INSA establish strategies, collaborative networks, and infrastructures to ensure regular updates and long-term sustainability. The 2023 version (6.0) includes 44 components for 1330 generic foods, with a new release planned for early 2025. This study presents the strategy and resources for updating the FCDB, integrating analytical and other data sources, while highlighting the role of stakeholders and digital tools in the process. Methods: To ensure data accuracy, INSA conducts an annual analytical program, analysing 12–22 food pool samples in its accredited laboratories. This program prioritizes key foods and components, under the Analytical Updating Commission (AUC). For the 2025 update, Total Diet Study (TDS) nutrient samples were evaluated for adequacy to generic food profiles. Additional analytical data from the industry and distribution sectors were collected via PortFIR’s working group (GTTCA), while addressing user needs. Additionally, European food composition resources (e.g., FoodExplorer-EuroFIR) and food labelling data were used to enhance data completeness. FoodCASE® ensures compliance with EuroFIR’s technical requirements, with automated checks detecting inconsistencies, which are then manually reviewed and corrected. Results: The 2025 FCDB update includes new foods and components, along with nutrient revisions (mainly salt and sugar) linked to the national reformulation strategy. The annual analytical program, based on AUC prioritization, provides high-quality nutrient data, improving dietary representativeness. Regarding TDS-based analytical data, 164 TDS samples were analysed, with nearly 58% integrated into the FCDB, based on composition suitability. The GTTCA, which meets bimonthly, includes 74 members, representing data users and producers, playing a key role in revising the FCDB, ensuring national data access, and addressing user needs. The PortFIR® website remains a key dissemination platform, providing free access to the FCDB, along with tools for food comparisons, recipe calculations, and dataset downloads. Conclusions: A multi-source, collaborative approach is key to ensuring sustainable FCDB updates. However, financial constraints remain a major challenge, as the Ministry of Health lacks dedicated funding for analytical programs. Additional resources and institutional support are essential to guarantee the long-term sustainability of the FCDB, supporting nutrition research, public health, and the food industry.