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- Programa Nacional de Rastreio Neonatal: relatório 2024Publication . Vilarinho, Laura; Garcia, Paula; Pinho e Costa, Paulo; Comissão Executiva do ProgramaRelatório de atividades do Programa Nacional de Rastreio Neonatal (PNRN) relativo ao ano de 2024, elaborado pela Comissão Executiva do Programa. O documento refere todos os casos detetados, bem como os Centros de Tratamento de apoio aos doentes e a prevalência ao nascimento das doenças rastreadas, entre outra informação estatística. Do presente relatório de desenvolvimento do Programa, destaca-se o seguinte: - Em 2024, as 27 doenças integradas no painel do Programa Nacional de Rastreio Neonatal (Hipotiroidismo Congénito, Fibrose Quística, Drepanocitose (Anemia de Células Falciformes e 24 Doenças Hereditárias do Metabolismo) foram rastreadas de uma forma sistemática, em 84.631 recém-nascidos (RN) e identificados 118 doentes com uma média de idade de início de tratamento de 9,5 dias de vida; - Em 2022, teve início o estudo-piloto para o rastreio neonatal da Atrofia Muscular Espinal, que foi concluído no final de 2024 com uma prevalência ao nascimento de 1:15.520 e foi proposta a sua integração no painel das doenças rastreadas; - A taxa de cobertura nacional mantém-se próxima dos 100%, o que constitui um excelente indicador de aceitação da população a este programa nacional de saúde pública; - Desde o início do Programa, foram rastreados 4.309.181 recém-nascidos e identificados 2.796 casos positivos; - Pela qualidade dos seus indicadores, número de patologias rastreadas, tempo médio de início de tratamento e taxa de cobertura a nível nacional, considera-se que é, de facto, um Programa de grande eficácia clínica e epidemiológica. Criado em 1979, este programa de saúde pública, conhecido como “teste do pezinho”, tem como objetivo primário o rastreio neonatal de doenças raras, de forma a evitar a evolução da patologia rastreada, através do diagnóstico pré-sintomático e da orientação para implementação precoce de terapia adequada. A Unidade de Rastreio Neonatal, Metabolismo e Genética do DGH, que funciona no Centro de Saúde Pública Doutor Gonçalves Ferreira do INSA no Porto, é o braço laboratorial do Programa, sendo composta pelo Laboratório Nacional de Rastreios, Laboratório de Metabolismo e Laboratório de Genética Molecular. Após 45 anos de atividade, o PNRN continua a apresentar um elevado padrão de qualidade e desenvolvimento que lhe confere um prestígio nacional e internacional por todos reconhecido e respeitado, mantendo uma trajetória e um dinamismo de que são sinais, para além dos indicadores de eficácia clínica e epidemiológica, o elevado nível de produção científica, a implementação de normas internacionais de qualidade e o alargamento do rastreio a novas entidades nosológicas.
- SCCS Opinion on Biphenyl-2-ol and Sodium 2-biphenylolate used in cosmetic products (CAS/EC No. 90-43-7/201-993-5 and 132-27-4/205-055-6)– SCCS/1669/24Publication . Bernauer, Ulrike; Bodin, Laurent; Chaudhry, Qasim; Coenraads, Pieter Jan; Ezendam, Janine; Gaffet, Eric; Galli, Corrado L.; Panteri, Eirini; Rogiers, Vera; Rousselle, Christophe; Stepnik, Maciej; Vanhaecke, Tamara; Wijnhoven, Susan; Benfenati, Emilio; Corsini, Emanuela; Koutsodimou, Aglaia; Aglaia Koutsodimou; Louro, Henriqueta; Uter, Wolfgang; von Goetz, NatalieHighlights: -o-Phenylphenol (OPP) is safe when used as preservative up to a maximum concentration of 0.2 % in rinse-off cosmetic products; - o-Phenylphenol (OPP) is safe when used as preservative up to a maximum concentration of 0.15 % in leave-on cosmetic products; - Sodium o-Phenylphenate is safe when used as preservative up to a maximum concentration of 0.2 % in rinse-off cosmetic products; - Sodium o-Phenylphenate is safe when used as preservative up to a maximum concentration of 0.15 % in leave-on cosmetic products; - OPP and Sodium o-Phenylphenate, when used together, should not exceed the maximum concentration 0.15 % in leave-on cosmetic products; - OPP and Sodium o-Phenylphenate, when used together, should not exceed the maximum concentration 0.2 % in rinse-off cosmetic products; - Since this safety dossier related to dermally applied products only, the SCCS did not consider oral and inhalation routes; - This assessment did not cover the safety of O-Phenylphenol and Sodium o-Phenylphenate for the environment.
- Re‐evaluation of neotame (E 961) as food additivePublication . EFSA Panel on Food Additives and Flavourings (FAF); Castle, Laurence; Andreassen, Monica; Aquilina, Gabriele; Bastos, Maria Lourdes; Boon, Polly; Fallico, Biagio; FitzGerald, Reginald; Frutos-Fernandez, Maria Jose; Grasl‐Kraupp, Bettina; Gundert‐Remy, Ursula; Gürtler, Rainer; Houdeau, Eric; Kurek, Marcin; Louro, Henriqueta; Morales, Patricia; Passamonti, Sabina; Batke, Monika; Bruzell, Ellen; Chipman, James; Crebelli, Riccardo; Fortes, Cristina; Fürst, Peter; Gaffet, Eric; Karlien, Cheyns; Halldorsson, Thorhallur; Leblanc, Jean‐Charles; Lindtner, Oliver; Loeschner, Katrin; Mast, Jan; Mirat, Manuela; Mortensen, Alicja; Undas, Anna; Wright, Matthew; Barmaz, Stefania; Civitella, Consuelo; Abrahantes, Jose Cortiñas; Le Gall, Pauline; Mazzoli, Elena; Mech, Agnieszka; Rasinger, Josef Daniel; Rincon, Ana; Riolo, Francesca; Smeraldi, Camilla; Tard, Alexandra; Zakidou, Panagiota; Lodi, FedericaThe present opinion deals with the re‐evaluation of neotame (E 961) as a food additive. Neotame is the chemically manufactured compound N‐[N‐(3,3‐dimethylbutyl)‐l‐α‐aspartyl]‐l‐phenylalanine 1‐methyl ester. The main impurity of neotame (E 961) is also a degradation product (de‐esterified form), N‐[N‐(3,3‐dimethylbutyl)‐l‐α‐aspartyl]‐l‐phenylalanine (NC‐00751) and the primary metabolite. No new data were received following the call for biological and toxicological data. A summary of the toxicological studies available in the EFSA opinion of 2007 is presented and studies gathered from the literature are summarised. Neotame is rapidly absorbed and pre‐systemically metabolised, systemic intact neotame is likely to be excreted in the urine with its metabolites. The potential aneugenic effects at the site of contact are not expected to occur; overall, there is no concern for genotoxicity of neotame (E 961) at the maximum permitted levels or reported use levels. A review of the other endpoints from the already available toxicological database did not indicate an adverse effect for neotame at the highest doses tested. The Panel established an acceptable daily intake (ADI) of 10 mg/kg bw per day for neotame based on the no observed adverse effect level (NOAEL) of 1000 mg/kg bw per day from a 52‐week chronic and 104‐week carcinogenicity studies in rats. This ADI replaces the ADI of 2 mg/kg bw per day established by EFSA in 2007. The resulting exposure to methanol and its metabolite formaldehyde from the use of neotame at the ADI of 10 mg/kg bw per day does not raise a concern. The dietary exposure estimates of neotame (E 961) for the different population groups of all exposure scenarios did not exceed the ADI. The Panel concluded that there is no safety concern for neotame (E 961) at the currently permitted and reported uses and use levels. The Panel recommended the European Commission to consider revising the EU specifications of neotame (E 961).
- An endoribonuclease of the YicC-like family delays sporulation via sRNA degradation in Clostridioides difficilePublication . Martins, Diogo; Salgueiro, Bruno; Sobral, Daniel; Gragera, Marcos; Hensel, Zach; Henriques, Adriano O.; Romão, Célia V.; Serrano, MónicaClostridioides difficile CD25890 is a YicC-like endoribonuclease involved in regulating sporulation initiation, a process critical for the host-host transmission of this anaerobic pathogen. Using comparative transcriptomics we identified a small RNA, SQ528, that accumulates at higher levels in a CD25890 deletion mutant and we show that purified CD25890 cleaves SQ528 in a metal-dependent manner. Moreover, the overexpression of SQ528 increases sporulation under certain nutritional conditions phenocopying a CD25890 deletion mutant. CD25890 is an hexamer in solution and in vivo. An N-terminal domain, which self-interacts as assessed by size exclusion chromatography and a two hybrid assay, is essential for oligomerization of CD25890. A C-terminal domain harbours residues H230, E254, and E258, conserved among orthologues, important for catalysis. AlphaFold2 modelling and cryo-EM suggest an elongated barrel-like structure with an internal cavity lined with basic residues that may aid in RNA binding. We show that CD25890 forms a complex with polynucleotide phosphorylase which combines the endoribonuclease activity of the first with the exonucleolytic activity of the latter and leads to the complete degradation of SQ528. This study identifies a native substrate for the YicC-family of ribonucleases and advances our understanding of the role of CD25890 in sporulation initiation in C. difficile.
- Safety evaluation of d‐α‐tocopheryl polyethylene glycol‐1000 succinate (Vitamin E TPGS) as a food additivePublication . EFSA Panel on Food Additives and Flavourings (FAF); Castle, Laurence; Andreassen, Monica; Aquilina, Gabriele; Bastos, Maria Lourdes; Boon, Polly; Fallico, Biagio; FitzGerald, Reginald; Frutos Fernandez, Maria Jose; Grasl‐Kraupp, Bettina; Gundert‐Remy, Ursula; Gürtler, Rainer; Houdeau, Eric; Kurek, Marcin; Louro, Henriqueta; Morales, Patricia; Passamonti, Sabina; Barat Baviera, José Manuel; Degen, Gisela; Gott, David; Leblanc, Jean‐Charles; Moldeus, Peter; Waalkens‐Berendsen, Ine; Wölfle, Detlef; Consuelo, Civitella; Mech, Agnieszka; Medrano‐Padial, Concepción; Rincon, Ana Maria; Smeraldi, Camilla; Tard, Alexandra; Ruggeri, LauraThe EFSA Panel on Food Additives and Flavourings (FAF) provides a scientific opinion on the safety of d‐α‐tocopheryl polyethylene glycol‐1000 succinate (Vitamin E TPGS) as a new food additive to be used in several food categories as emulsifier. In 2007, the EFSA AFC Panel assessed TPGS as a source of tocopherol intended to be used in foods for particular nutritional uses. The Panel considered the AFC Panel assessment relevant for the present new food additive. Compositional data showed that the proposed food additive is composed of Vitamin E TPGS monoesters (< 82% w/w of the whole preparation) and diesters (<20% w/w of the whole preparation). Data on the hydrolysis of Vitamin E TPGS showed that the ester bond between d‐α‐tocopherol and succinic acid is stable under the tested conditions, as no increase in free d‐α‐tocopherol was observed. Vitamin E TPGS is poorly absorbed and does not represent a source of Vitamin E in the healthy population. Vitamin E TPGS does not raise a concern with respect to genotoxicity and no adverse effects on reproductive and developmental parameters were observed up to 1000 mg TPGS/kg bw per day, the highest dose tested and identified as a reference point. Due to the limitations in the available data (e.g. in reporting), the Panel decided to use an MOE approach instead of deriving an ADI. The Panel considered the calculated MOEs sufficient. Based on the available data, the Panel concluded that the use of Vitamin E TPGS as a new food additive does not raise a safety concern at the proposed use and use levels.
- Comparative analysis of hybrid‑SNP microarray and nanopore sequencing for detection of large‑sized copy number variants in the human genomePublication . Silva, Catarina; Ferrão, José; Marques, Bárbara; Pedro, Sónia; Correia, Hildeberto; Valente, Ana; Rodrigues, António Sebastião; Vieira, LuísBackground: Nanopore sequencing is a technology that holds great promise for identifying all types of human genome variations, particularly structural variations. In this work, we used nanopore sequencing technology to sequence 2 human cell lines at low depth of coverage to call copy number variations (CNV), and compared the results variant by variant with chromosomal microarray (CMA) results. Results: We analysed sequencing data using CuteSV and Sniffles2 variant callers, compared breakpoints based on hybrid-SNP microarray, nanopore sequencing and Sanger sequencing, and analysed CNV coverage. From a total of 48 high confidence variants (truth set), variant calling detected 79% of the truth set variants, increasing to 86% for interstitial CNV. Simultaneous use of the 2 callers slightly increased variant calling. Both callers performed better when calling CNV losses than gains. Variant sizes from CMA and nanopore sequencing showed an excellent correlation, with breakpoints determined by nanopore sequencing differing by only 20 base pairs on average from Sanger sequencing. Nanopore sequencing also revealed that four variants concealed genomic inversions undetectable by CMA. In the 10 CNV not called in nanopore sequencing, 8 showed coverage evidence of genomic loss or gain, highlighting the need to improve SV calling algorithms performance. Conclusions: Nanopore sequencing offers advantages over CMA for structural variant detection, including the identification of multiple variant types and their breakpoints with increased precision. However, further improvements in variant calling algorithms are still needed for nanopore sequencing to become a highly robust and standardized approach for a comprehensive analysis of genomic structural variation.
- Extension of Poultry Meat Shelf Life Using Cynara cardunculus L. Leaf Extracts as a Natural PreservativePublication . Barbosa, Cássia H.; Andrade, Mariana A.; Vilarinho, Fernanda; Silva, Ana Sanches; Fernando, Ana Luísa;Food additives are used to prevent food spoilage and extend its shelf life. However, con cerns regarding the potential health implications associated with some synthetic additives have prompted research efforts aimed at identifying natural alternatives, such as plant extracts. Cynara cardunculus L. (cardoon) is known for its antimicrobial and antioxidant properties. The aim of this study was to evaluate the capability of ethanolic food-grade extracts from cultivated cardoon and globe artichoke leaves to preserve poultry breast meat during refrigerated storage. A total of seven treatment groups were tested: one control group (no extract) and six active groups with 0.5%, 1%, and 2% (w/w) of either cultivated cardoon or globe artichoke leaf extracts. Lipid oxidation, moisture, colour, pH, acidity, and microbial growth were assessed in poultry meat samples over 15 days. Both extracts were effective in extending shelf life, up to 11 days, by delaying lipid oxidation and microbial growth. Cardoon extract (1% w/w) displayed superior antimicrobial efficacy, maintaining microbial counts below 5 Log CFU/g meat until day 15, compared to the control. Culti vated cardoon leaf extract proves promising as a natural antimicrobial and antioxidant, extending the shelf life of poultry meat. This presents an opportunity to maintain the quality of meat products, aligning with consumer preferences for natural ingredients and sustainable practices.