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- Programa Nacional de Rastreio Neonatal: relatório 2025Publication . 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 2025, 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 2025, as 28 doenças integradas no painel do Programa Nacional de Rastreio Neonatal (Hipotiroidismo Congénito, Fibrose Quística, Drepanocitose (Anemia de Células Falciformes), Atrofia Muscular Espinal e 24 Doenças Hereditárias do Metabolismo foram rastreadas de uma forma sistemática, em 87.708 recém-nascidos (RN) e identificados 130 doentes com uma média de idade de início de tratamento de 9,9 dias de vida; - Em abril de 2025 teve início o estudo-piloto para o rastreio neonatal da Imunodeficiência Combinada Grave, a nível nacional, após Resolução da Assembleia da República n.º 92/2024, de 30 de outubro que recomenda ao Governo que, em articulação com o INSA estude a viabilidade da realização do rastreio da SCID. Assim, até ao final de 2025 foram orientados para Centro Especializado para o Tratamento cinco casos, quatro dos quais correspondentes a linfopenias isoladas e um caso de SCID; - 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 4.396.889 recém-nascidos e identificados 2.926 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 Departamento de Genética Humana, 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 46 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 Benzophenone-1 (CAS No. 131-56-6, EC No. 205-029-4)Publication . Scientific Committee on Consumer Safety (SCCS)Conclusion of the opinion: (1) In light of the data provided and taking under consideration the concerns related to potential endocrine disrupting properties of Benzophenone-1, does the SCCS consider Benzophenone-1 safe when used as a light stabilizer in cosmetic products up to a maximum concentration of 2%? Having considered the data provided (including two new mutagenicity/genotoxicity studies submitted to ECHA as part of the REACH registration dossier), and the concerns relating to genotoxicity and potential endocrine disrupting properties, the SCCS considers Benzophenone-1 not safe when used as a light stabiliser in cosmetic products for the following reasons: The available data indicate genotoxicity potential of Benzophenone-1. The evidence assessed by the SCCS also shows that Benzophenone-1 is an endocrine-active substance due to clear demonstration of estrogenic activity and weak anti-androgenic activity both in vitro and in vivo, and potential activity against thyroid modality in vitro. A new (2023) OECD TG 422 study relating to ED effects submitted to ECHA as part of the REACH registration dossier has not been assessed by the SCCS at this stage because of the remaining concerns over genotoxicity of Benzophenone-1. The SCCS will be ready to assess the evidence in support of the safe use of Benzophenone-1 in cosmetic products when received in a new mandate. (2) Alternatively, what is according to the SCCS the maximum concentration considered safe for use of Benzophenone-1 in cosmetic products? / (3) Does the SCCS have any further scientific concerns with regard to the use of Benzophenone-1 in cosmetic products? The SCCS mandate does not address environmental aspects. Therefore, this assessment has not covered the safety of BP-1 for the environment.
- Addressing a challenging enzyme in vitro: proof of principle on the therapeutic potential of an antisense oligonucleotide approach for ML IIPublication . Matos, Liliana1. To confirm the specificity of selected ASOs to skip the GNPTAB exon 19, a scramble ASO (expected to have no effect on GNPTAB gene) was transfected in WT & ML II patient fibroblasts. RT-PCR results showed that this ASO did not changed exon 19 splicing pattern proving the specificity of GNPTAB ASOs (Fig1A). Also, the enzymatic activity of various hydrolases was analysed in the same transfected cells. Results showed that the scramble ASO seems to interfere, even if little, with hydrolases activities of treated WT & ML II fibroblasts as shown by the differences in activities observed (Fig1B). The experiments number need to be increased to confirm these results. 2. To analyse the effect of exon 19 skipping on the GlcNAc-PT, a WT construct with the full GNPTAB cDNA (pGNPTAB_WT) and a mutant without exon 19 (pGNPTAB_delEx19) were tested in HEK293T cells. RT-PCR results after transfection showed the expected transcript pattern in both constructs (Fig2A). Moreover, GNPTAB protein expression was analysed by Western Blot (WB) using an antibody (Ab) specific for a myc-His tag located in constructs downstream the GNPTAB insert. Both constructs expressed a band corresponding to the α/β precursor, with or without exon 19. However, regarding the cleaved β-subunit the results are not so clear since we observed 2 bands (~48KDa) for the WT construct and further analysis is needed to understand if any of them corresponds to the target (Fig2B). Both constructs were also transfected in ML II fibroblasts and cDNA analysis showed the expected transcript pattern. The activity of hydrolases will also be assessed to check if it increases with the delEx19 construct expression, suggesting a potential therapeutic effect. 3. We generated a novel Ab for the GlcNAc-PT β-subunit (rabbits). We expected to detect the protein in WT but not in ML II fibroblasts. However, WB results showed a band with the expected protein size in both cases (Fig3A). So, to test the Ab specificity different assays were done. The pre-bleed serum of the immunized rabbits was tested by WB and no target band was detected confirming that animals did not have Abs against the human protein (Fig3B). Also, the 2 synthetic β-subunit peptides used to immunize the animals were detected by WB confirming the specificity of the produced Abs (Fig3C). Protein sequencing (mass spectrometry) was also performed in extracts of WT & ML II fibroblasts after SDS-Page to search for the GNPTAB protein. As our Ab target has 45KDa, bands within 37-50KDa were analysed but the protein was not detected not even in the WT, suggesting that the protein amount used was insufficient for target protein detection. Finally, the Ab was tested by WB in HEK293T cells transfected with both constructs and the expected protein pattern at least for the α/β precursor was observed (Fig3D). This last experiment needs to be repeated, however results obtained in the various assays suggest that our Ab is specific for GNPTAB protein detection.
- Opinion on Salicylic Acid (CAS No. 69-72-7, EC No. 200-712-3) - Children’s exposurePublication . Scientific Committee on Consumer SafetyThe SCCS concludes the following: 1 In light of the data provided, and taking under consideration the conclusions of the SCCS/1646/22 Opinion on children’s exposure, does the SCCS consider Salicylic Acid safe for children between 3-10 years of age: a) when used as a preservative in cosmetic products up to a maximum concentration of 0.5 %? Based on the safety assessment carried out in consideration of all available information, including the potential endocrine effects: • the SCCS is of the opinion that Salicylic Acid (CAS 69-72-7) is not safe when used as preservative at a concentration of 0.5% in all cosmetic products listed under conclusion (b), considering its current restrictions in place. With the exception of body lotion, it is safe in single dermal and oral product categories, when used only in the respective product category. • this Opinion is not applicable to any sprayable product (including mouth spray) that may lead to exposure of end-user’s lungs by inhalation. • The provided information shows that Salicylic Acid is an eye irritant with the potential to cause serious damage to the eye. b) when used for purposes other than inhibiting the development of micro-organisms at a concentration up to: i. 3.0 % for cosmetic rinse-off products ii. 2.0 % for cosmetic leave-on products except body lotion and oral products, and iii. 0.5 % for body lotion and oral products The SCCS assessment has shown that: The use of Salicylic Acid as a restricted ingredient for purposes other than inhibiting the development of micro-organisms is not safe at the following concentrations when aggregate exposure is considered: - up to 3.0% for the cosmetic rinse-off hair products used by children (shampoo, conditioner), - up to 2.0% for selected other dermally applied products used by children (face moisturizer, hand cream, liquid soap, shower gel), and - up to 0.5% for body lotion. With the exception of body lotion, it is safe in single dermal and oral product categories, when used only in the respective product category. 2 Alternatively, what is according to the SCCS the maximum concentration of Salicylic Acid that is considered safe for children 3-10 years of age? Reducing the concentration, for example to 0.1% in dermal products, would make the use safe for dermal products and toothpaste. During public consultation the SCCS has received a proposal of the Applicant to keep rinse-off products at 0.5%, reduce Salicylic Acid in leave-on products to 0.15% and oral Care products to 0.1%. Applying these concentrations Salicylic Acid is safe for children 3-10 years old. 3 Does the SCCS have any further scientific concerns with regard to the use of Salicylic Acid in cosmetic products and children’s exposure? Since the Cosmetic Regulation does not allow the use of Salicylic Acid in products for children under 3 years of age, this age category has not been considered in this Opinion. The conclusions of this Opinion refer only to Salicylic Acid as a cosmetic ingredient and not to other salicylates or salicylic acid salts. The SCCS is currently assessing the cumulative exposure to salicylates and the implications for risk assessment. The SCCS mandates do not address environmental aspects. Therefore, this assessment did not cover the safety of Salicylic Acid for the environment.
- Relatório Saúde e Ambiente 2024Publication . Observatório Português da Saúde e Ambiente; Nicola, Paulo Jorge; Campos, LuísO Observatório Português da Saúde e Ambiente foi criado pelo Conselho Português para a Saúde e Ambiente (CPSA) em 2024 e tem como objetivo avaliar e monitorizar a relação entre as alterações climáticas, a degradação ambiental e a saúde humana em Portugal. O relatório publicado, trata-se de uma publicação composta por capítulos temáticos, da autoria de equipas especializadas. Áreas em destaque: 1. Determinantes Ambientais da Saúde, nomeadamente a sobrepopulação, as alterações climáticas, a poluição e degradação dos ecossistemas, e a biodiversidade e recursos naturais; 2. Impacto na Saúde Humana, das doenças associadas a fatores ambientais, zoonoses e doenças transmitidas por vetores, poluição química e saúde mental; 3. Ações de Mitigação e Adaptação, ao nível dos compromissos e desafios, mas também das iniciativas municipais; 4. Impacto Ambiental do Setor da Saúde, a sua pegada ambiental, bem como as iniciativas e áreas negligenciadas; 5. Resiliência do Sistema de Saúde, os seus desafios estruturais e ao nível dos recursos humanos; 6. Literacia, Educação e Investigação, desde a consciencialização, à formação e à investigação; 7. Boas Práticas e Recomendações.
- Scientific advice on the safety of Benzophenone-2 (BP-2) (CAS No. 131-55-5, EC No. 205-028-9) and Benzophenone-5 (BP-5) (CAS No. 6628-37-1, EC No. 613-918-7) as substances with potential endocrine disrupting properties in cosmetic productsPublication . European Comission. Scientific Committee on Consumer SafetyThe SCCS concludes the following: In light of technical and scientific progress, available scientific literature, relevant in silico tools and the SCCS’ expert judgement and taking under consideration in particular the concerns related to potential endocrine disrupting properties, the SCCS is requested: 1. to identify and justify whether there are specific concerns regarding the use of Benzophenone-2 and Benzophenone-5 in cosmetic products. Benzophenone 2 (BP-2): Having considered all the available data, and the concerns relating to potential endocrine disrupting properties, the SCCS cannot conclude on the safety of Benzophenone-2 because genotoxicity potential cannot be excluded. The data on repeated dose toxicity and reproductive toxicity of Benzophenone-2 are also either limited or not available. The available evidence shows that BP-2 is an endocrine-active substance, due to a clear demonstration of estrogenic activity both in vitro and in vivo. Benzophenone 5 (BP-5): Due to the scarcity of information for Benzophenone-5, the SCCS has considered that data from a close analogue BP-4 can be used for read-across for the safety assessment of BP-5. Thus, considering the toxicological data on Benzophenone-4, including the potential endocrine disrupting properties, the SCCS is of the opinion that BP-5 is safe when used as a UV filter up to a maximum concentration of 5% in sunscreen, face and hand cream, lipstick, sunscreen propellant spray and pump spray, when used separately or in combination (based on deterministic aggregated exposure of BP-4). 2. to highlight if there is a potential risk for human health from the use of Benzophenone-2 and Benzophenone-5 in cosmetic products. The SCCS considers that the use of Benzophenone-2 in cosmetic products may pose a risk to the consumer because of the indications for genotoxicity and endocrine activity. The assessment of safety of BP-2 in cosmetic products also requires appropriate data on repeated dose toxicity and reproductive toxicity. The SCCS mandate does not address environmental aspects. Therefore, this assessment has not covered the safety of BP-2 and BP-5 for the environment.
- Deliverable D5.4 -1st closing data gaps report WP5 – Task 5.1. Partnership for the Assessment of Risks from ChemicalsPublication . Partnership for the Assessment of Risks from ChemicalsThis deliverable summarizes the preliminary results of the PARC WP5 Task 5.1, aiming to close key data gaps for substances of emerging concern. Focus is placed on two major substance groups: natural toxins and bisphenol A (BPA) alternatives, addressing both human and environmental health. For human health, prioritized mycotoxins (enniatins including beauvericin and Alternaria toxins) were tested across genotoxicity, endocrine disruption, developmental neurotoxicity, and immunotoxicity endpoints, employing both OECD test guidelines and new approach ethodologies (NAMs). In a parallel project, hazard testing of BPA alternatives examined metabolism, bioactivation, and toxicological profiles using as well OECD test guidelines and in vitro systems aligned with regulatory relevance. On the environmental side, aquatic organisms such as Daphnia magna, Lymnaea stagnalis, and Chlorella vulgaris were used to assess the ecotoxicity of selected natural toxins and BPA alternatives under standard OECD and ISO guidelines. Both single and mixture exposures were tested, revealing species- and compound specific effects and emphasizing the relevance of temperature and combined stressors in ecological risk assessment. Altogether, this first data gap report contributes to strengthening risk assessment capabilities across the EU by supporting better prioritization and regulation of under-studied substances. The data are being shared and discussed with regulatory agencies (EFSA, ECHA, EEA), and further testing is ongoing to complete hazard characterizations.
- Guiding principles for mixture threshold derivation from effect biomarkersPublication . OECD Environment Directorate Chemicals and Biotechnology Committee; OECD Environment Health and Safety Division__APAGARForeword: Currently available assessment approaches for cumulative risk of chemical mixtures can only be applicable to a small number of substances present at workplaces and in the environment. We cannot anticipate a significant change of this situation in the near future due to extensive data need for cumulative risk assessments. Presently, effect biomarkers are the most direct option to address the risk of known and unknown mixtures in an integrative way. Traditional occupational health risk assessments often rely on external exposure measurements, such as air monitoring, which may not fully capture the complexities of workplace exposures. Human biomonitoring is used to measure internal exposures or effects in exposed individuals or groups from all potential routes of exposure (i.e., inhalation, oral, and dermal). Exposure to mixtures in the workplace and environment is the most common chemical exposure scenario in our daily lives. However, methods for assessing the risks and for setting mixture threshold limits to avoid adverse effects lack global harmonization. Monitoring of effect biomarkers can support regulatory risk assessment in multiple ways. An effect biomarker indicates a stressor-induced biological effect which can be associated with a disease and can be interpreted as a potential predictor of a downstream effect i.e. measuring a key event in a Mode of Action (MoA) or Adverse Outcome Pathway (AOP). Thus, biomarkers can provide an integrated measure of the response to relevant stressors by all routes of known and unknown exposures. However, effect biomarker responses are usually not straightforward to interpret regarding their predictive value to indicate adverse effects. A systematic understanding of the relevance of effect biomarker data will enhance the protection of workers and/or ecosystems, if used under appropriate ethical and regulatory frameworks. Therefore, harmonized guidance for assessing effect biomarkers and their application to risk assessments are needed. The guiding principles proposed in this document describe the key concepts for the derivation and interpretation of mixture thresholds* for selected effect biomarkers for use in occupational or ecological risk assessments. The aim of these guiding principles is to present a harmonized assessment approach which will save resources and promote consistency across regulatory agencies at national and international levels. The development of this document was a joint activity of the Organisation for Economic Co-operation and Development (OECD) Working Party on Exposure Assessment & Working Party on Hazard Assessment (WPEA & WPHA) in collaboration with more than 90 experts from 25 countries and other stakeholders (see chapter 8 project participation). The activity was started in October 2022 and the development of this guiding principles document was co-led by Robert Pasanen-Kase (SECO*, CH) as coordinator, Maryam Zare-Jeddi (BIAC*), Nancy B. Hopf (Unisanté, CH), Susana Viegas (ENSP*/UNL, PT), Dan Villeneuve (US-EPA*, US), Martin Wilks and Rex FitzGerald (University of Basel, CH), Radu Corneliu Duca (LNS*, LU) and the OECD Secretariat. The document was drafted in close collaboration with experts providing input on different aspects of human and environmental effect-biomonitoring including Bernice Scholten, (TNO* , NL), Eszter Simon (FOEN* , CH), Devika Poddalgoda (Health Canada, CAN), Anna Bal Price (JRC*, EU); Vicente Mustieles, Antonio Hernandez-Jerez (University of Granada, ES), Christoph van Thriel (IFADO* , DE), Stefano Bonassi (IRCCS*, San Raffaele Roma, IT), Michael Fenech (University of South Australia, AUS), Sophie Ndaw (INRS*, FR), Christina Pieper (German Federal Institute for Risk Assessment, DE), Lucian Farcal, Alicia Paini (EFSA*, EU). The initial draft guidance document was reviewed in 2025 by expert group (see chapter 8) and WPEA & WPHA members and was commented by eleven experts from six different organisations / institutes / companies and was finalized. This adopted biomonitoring guiding principles document is published under the responsibility of the Chemical and Biotechnology Committee of the OECD.
- SCCS - Scientific Opinion on Tea Tree Oil (CAS/EC No. 68647-73-4 /285-377-1)Publication . Scientific Committee on Consumer Safety (SCCS)The SCCS concludes the following: 1. In light of the data provided and taking under consideration the possible classification as ‘Repr.1B’ under Regulation (EC) No 1272/2008 (CLP Regulation) and the conditions laid out in Article 15 (2) (d) of the Regulation (EC) No 1223/2009, does the SCCS consider TTO safe when used as an anti-seborrheic and anti-microbial agent in rinse-off and leave-on cosmetic products up to the maximum concentrations provided by the applicant? The SCCS considers the use of Tea Tree Oil (TTO) as an anti-seborrheic and anti-microbial agent safe in four defended product types - up to the maximum concentration of 2.0% in shampoo, 1.0% in shower gel, 1.0% in face wash and 0.1% in face cream. The assessment has considered all available data, a possible classification as ‘Repr.1B’ under Regulation (EC) No 1272/2008, the conditions laid out in Article 15 (2) (d) of the Regulation (EC) No 1223/2009 including the aggregated exposure from the defended cosmetic products and non-cosmetics uses of TTO. This Opinion is only applicable to: • TTO with chemical composition that conforms to the updated International Standard (ISO 4730:2017) in the defended final cosmetic products. • the use of TTO in the defended dermally applied cosmetic products exclusively for adults, and not in aerosolised or sprayable delivery formats that may give rise to inhalation exposure of the consumer to TTO through airborne mist/droplets of the TTO-containing products. 2. Alternatively, what is according to the SCCS, the maximum concentration considered safe for use of TTO in cosmetic products? 3. Does the SCCS have any further scientific concerns regarding the use of TTO in cosmetic products? Based on the data provided, TTO is a moderate skin sensitiser. The submission did not provide any data on the stability of TTO under the conditions of storage and use. Since the chemical composition of TTO may change due to exposure to light, heat, air and /or moisture, it is not clear how TTO will be stabilised in the final cosmetic products to prevent degradation/transformation of the components. The SCCS is therefore of the opinion that stability of TTO must be maintained in the final cosmetic products so that the components remain within the specifications of the updated ISO 4730:2017 standard. The new version of ISO standard (ISO 4730:2025), which relates to enantiomeric distribution parameters for α-terpineol in the essential oil of Melaleuca, terpinen-4-ol type (tea tree oil), should also be taken into account. The SCCS mandate does not address environmental aspects. Therefore, this assessment has not covered the safety of TTO for the environment.
- 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 . European Commission. Scientific Committee on Consumer SafetyThe SCCS concludes the following: 1. In light of the data provided and taking under consideration the concerns related to potential endocrine disrupting properties of Benzophenone-1, does the SCCS consider Benzophenone-1 safe when used as a light stabilizer in cosmetic products up to a maximum concentration of 2%? Having considered the data provided (including two new mutagenicity/genotoxicity studies submitted to ECHA as part of the REACH registration dossier), and the concerns relating to genotoxicity and potential endocrine disrupting properties, the SCCS considers Benzophenone-1 not safe when used as a light stabiliser in cosmetic products for the following reasons: • The available data indicate genotoxicity potential of Benzophenone-1. • The evidence assessed by the SCCS also shows that Benzophenone-1 is an endocrine-active substance due to clear demonstration of estrogenic activity and weak anti-androgenic activity both in vitro and in vivo, and potential activity against thyroid modality in vitro. A new (2023) OECD TG 422 study relating to ED effects submitted to ECHA as part of the REACH registration dossier has not been assessed by the SCCS at this stage because of the remaining concerns over genotoxicity of Benzophenone-1. The SCCS will be ready to assess the evidence in support of the safe use of Benzophenone-1 in cosmetic products when received in a new mandate. 2. Alternatively, what is according to the SCCS the maximum concentration considered safe for use of Benzophenone-1 in cosmetic products? / 3. Does the SCCS have any further scientific concerns with regard to the use of Benzophenone-1 in cosmetic products? The SCCS mandate does not address environmental aspects. Therefore, this assessment has not covered the safety of BP-1 for the environment.