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- Portuguese Lipid Study (e_LIPID)Publication . Chora, Joana Rita; Alves, Ana Catarina; Mariano, Cibelle; Rato, Quitéria; Antunes, Marília; Bourbon, MafaldaBackground/Objectives: Incidence of cardiovascular disease (CVD) is increasing in low- and middle-income countries because of changing lifestyles. Since dyslipidaemia is a major independent cardiovascular risk factor, its correct identification is critical to implement specific interventions for CVD prevention. This study aimed to characterise the lipid profile of the Portuguese population. Methods: Overall, 1688 individuals from the general population (e_COR study, 2012-2014) were included. Population-specific percentiles for ten lipid biomarkers were estimated by bootstrapping methods to ensure national representativity. Statistical analyses were performed using RStudio. Results: The 50th percentile estimated for total cholesterol (TC), LDL-C, and non-HDL-C are similar to scientific societies recommended values for the general (low or moderate risk) population. National prevalence of having lipid parameters above recommended values was 64.6%, 66.9%, 51.3%, 68.9%, 17.8%, and 21.1% for TC, LDL-C, apoB, non-HDL-C, triglycerides, and Lp(a), respectively; these values are generally higher in men and increasing with age, except for Lp(a). A high prevalence of severe dyslipidaemia (>90th percentile) was identified, highest for small dense LDL-C (31.3%), apoB (30.4%), and LDL-C (30.3%). The national prevalence of CVD events was 5%. Three individuals were genetically identified with familial hypercholesterolemia, a high CVD risk condition. Conclusions: We provide for the first-time lipid biomarker percentiles for the general Portuguese population. Our results highlight that hypercholesterolemia is a neglected cardiovascular risk factor with over half of the population with TC, LDL-C, and apoB above recommended values. Since hypercholesterolemia is a modifiable risk factor, strategies to increase adherence to changes in lifestyle habits and medication need to be urgently discussed.
- Emergence of ST131 carrying carbapenemase genes, European Union/European Economic Area, August 2012 to May 2024Publication . Kohlenberg, Anke; Svartström, Olov; Apfalter, Petra; Hartl, Rainer; Bogaerts, Pierre; Huang, Te-Din; Chudejova, Katerina; Malisova, Lucia; Eisfeld, Jessica; Sandfort, Mirco; Hammerum, Anette M.; Roer, Louise; Räisänen, Kati; Dortet, Laurent; Bonnin, Rémy A.; Tóth, Ákos; Tóth, Kinga; Clarke, Christina; Cormican, Martin; Griškevičius, Algirdas; Khonyongwa, Kirstin; Meo, Marie; Niedre-Otomere, Baiba; Vangravs, Reinis; Hendrickx, Antoni Pa; Notermans, Daan W; Samuelsen, Ørjan; Caniça, Manuela; Manageiro, Vera; Müller, Vilhelm; Mäkitalo, Barbro; Kramar, Urška; Pirs, Mateja; Palm, Daniel; Monnet, Dominique L.; Alm, Erik; Linkevicius, MariusAnalysis of 594 isolates of sequence type (ST)131 and its single locus variants carrying carbapenemase genes from 17 European Union/European Economic Area countries revealed acquisition of 18 carbapenemase variants, mainly in ST131 clades A and C. Most frequent were (n = 230) and (n = 224), detected in 14 and 12 countries, respectively. Isolates carrying have increased rapidly since 2021. The increasing detection of carbapenemase genes in the high-risk lineage ST131 is a public health concern.
- Potential human exposure and risks of incidental nanoparticles released during rotary dry cutting of ceramic tilesPublication . Moreno-Martín, Verónica; López, Maria; Roldan, Cristian; Bou, David; Fraga, Sonia; Teixeira, João Paulo; López-Lilao, Ana; Sanfélix, Vicenta; Moliner, Raúl; Monfort, Eliseo; Viana, MarRotary dry cutting and rectifying of ceramic tiles are sources of fine particulate matter (PM2.5) and nanoparticles (NPs). These activities are typically carried out inside industrial facilities during the manufacturing process, as well as outdoors and in residential indoor spaces during the installation phase, where mitigation measures are seldom implemented. This work aimed to understand the particle formation and release mechanisms, as well as particle properties (physical, chemical, and toxicological) and potential impacts on human health and the environment, for particles generated during ceramic tile rotary dry cutting operations. Aerosols were characterised in terms of particle number and mass concentrations, chemical composition, morphology and in vitro cytotoxicity. Two types of commercially available and representative tiles were tested in controlled chamber experiments: porous and non-porous ceramic body tiles (referred to in this work as A and B types, respectively). Results evidenced the release of fine particles and NPs during dry cutting of both materials, in comparable concentrations (20.000–45.000/cm3, 1-min average). However, the particle size distribution was significantly finer from A tiles (70% of the particle number concentration was nanosized (<100 nm)) in comparison to B tiles (<20%). While airborne particle chemical profiles were similar for both types of materials in the coarser size fractions (>0.6 μm), in the smaller size fractions (<0.6 μm) larger differences were observed. The chemical composition of airborne aerosols was consistent with that of the deposited dust. In vitro cytotoxicity responses evidenced statistically significant differences between exposure to aerosols from both types of tiles: cell viability was lower after exposure to aerosols from A tiles (50% at the original concentration) compared to those from B tiles, which exhibited high cell viability regardless of the aerosol concentration. Overall, results evidenced NP formation and release during rotary dry cutting of ceramic tiles, varying physical-chemical and cytotoxic profiles as a function of the material being processed, and highlight this activity as a potential health hazard in scenarios where prevention and mitigation measures are not implemented.
- Scientific opinion on the extension of the authorisation of use of the food additive steviol glycosides (E 960a–d) and the modification of the acceptable daily intake (ADI) for steviolPublication . 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; Herman, Lieve; Leblanc, Jean‐Charles; Moldeus, Peter; Waalkens‐Berendsen, Ine; Wölfle, Detlef; Civitella, Consuelo; Ruggeri, Laura; Tard, Alexandra; Dino, Borana; Vermeiren, Sam; EFSA Panel on Food Additives and Flavourings (FAF)The EFSA Panel on Food Additive and Flavourings (FAF Panel) evaluated the safety of proposed changes to the currently permitted uses of the food additive steviol glycosides (E 960a-d) and of a proposed modification of the current acceptable daily intake (ADI) from 4 mg/kg body weight (bw) per day to 6 or 16 mg/kg bw per day, expressed as steviol equivalents. Currently, steviol glycosides (E 960a-d) are authorised in the EU in 32 different food categories (FCs). An extension of use was proposed for four new uses within FC 7.2 'Fine bakery wares'. In addition, an increase of the maximum permitted levels (MPLs) for FC 14.1.3 'Fruit nectars' and for three uses within FC 14.1.4 'Flavoured drinks' was requested. Consequently, the Panel updated the exposure estimates using the protocol for assessing exposure to sweeteners, developed to consider the specificities related to consumers' exposure to this functional class of food additives. Considering the proposed extension of use and increase of the MPLs, together with the currently authorised uses (at the MPLs) of E 960a-d, the highest 95th percentiles of exposure are 4.1 and 6.9 mg/kg bw per day for infants and toddlers, respectively. Based on the currently available absorption, distribution, metabolism and excretion (ADME) dataset for steviol glycosides (E 960a-d), the Panel concluded that that there is insufficient justification to increase the current ADI of 4 mg/kg bw per day, expressed as steviol equivalents. With respect to the proposed extension of use and increase of the MPLs, the Panel concluded that the calculated, conservative, dietary exposure would result in an increased exceedance of the ADI for toddlers at the 95th percentile.
- The Impact of Perfluorooctanoic Acid (PFOA) on the Mussel Mytilus galloprovincialis: A Multi-Biomarker EvaluationPublication . Copeto, Sandra; Ganço, Sara; Ferreira, Inês João; Sanchez, Didier; Nunes, Maria João; Motta, Carla; Silva, Marco; Diniz, MárioPerfluorooctanoic acid (PFOA) has been widely studied due to its environmental persistence and bioaccumulation potential, raising concerns about its effects on aquatic life. This research evaluates the impact of PFOA on the antioxidant defenses and stress response systems of the mussel Mytilus galloprovincialis. Mussels were exposed to three concentrations of PFOA (1, 10, and 100 µg·L−1) over 28 days. Several biomarkers, including glutathione S-transferase (GST), superoxide dismutase (SOD), catalase (CAT), lipid peroxidation (LPO), total antioxidant capacity (TAC), vitellogenin (VTG), ubiquitin (UBI), and caspase-3 (CASP) were analyzed. The results suggest stress responses, particularly in animals exposed to higher concentrations, as shown by GST and SOD activities which increased according to PFOA concentrations. Additionally, oxidative stress markers such as MDA and CAT showed variable responses depending on the exposure concentration tested. This study underscores the need for further investigation into the effects of PFOA on mollusks but also the need to unveil gender-specific responses in aquatic organisms exposed to this contaminant. The concentrations of PFOA used in our research are lower than those examined in previous studies, providing crucial insights into the impacts of even minimal exposure levels. It highlights the potential of M. galloprovincialis as a bioindicator in environmental monitoring programs, providing crucial insights for environmental management and policymaking regarding regulating and monitoring PFOA in marine settings. Consequently, in a country where seafood consumption is the second largest in Europe, implementing environmental policies and regulatory measures to manage and monitor PFOA levels in marine environments is crucial.
- Observatório Nacional de Saúde: coletânea do Boletim Observações (1998-2009)Publication . Departamento de EpidemiologiaColetânea do Boletim Observações editado entre 1998-2009 pelo Observatório Nacional de Saúde fundado pelo Dr. Marinho Falcão, atual Departamento de Epidemiologia do INSA.
- Infeção por VIH em Portugal – 2024Publication . Direção-Geral da Saúde, Instituto Nacional de Saúde Doutor Ricardo JorgeRelatório anual sobre a evolução da infeção VIH em Portugal – 2024. Este relatório conjunto DGS/ INSA apresenta os dados mais recentes da vigilância epidemiológica da infeção por VIH em Portugal, bem como resultantes de iniciativas de prevenção e rastreio desenvolvidas no âmbito do Programa Nacional para as Infeções Sexualmente Transmissíveis e Infeção pelo VIH (PNISTVIH). O relatório disponibiliza, pela primeira vez, dados sobre a Profilaxia Pós-Exposição ao VIH (PPE).
- MicroRNAs as potential biomarkers of response to modified Atkins diet in treatment of adults with drug-resistant epilepsy: A proof-of-concept studyPublication . Samões, Raquel; Cavalheiro, Ana; Santos, Cristina; Lopes, Joana; Teixeira, Catarina; Tavares, Maria Manuel; Carvalho, Cláudia; Lemos, Carolina; Costa, Paulo Pinho e; Cavaco, Sara; Chaves, João; Leal, BárbaraBackground: Accurate predictors of response to modified Atkins diet (MAD) are needed. MicroRNAs are potential biomarkers in epilepsy. This study aimed to explore the value of circulating miR-146a, miR-155, miR-22, miR-21 and miR-134 levels in predicting response to MAD. Methods: Patients who completed 3 months of MAD were selected from a prospective cohort of adults with DRE followed in a specialized MAD outpatient clinic. Patients were classified as responders if any reduction in seizure frequency at follow-up, calculated through seizure-calendars). The >50 % seizure reduction cut-off was also explored. Qualitative benefits in seizures and cognition were analysed. Blood samples were collected prior to initiate MAD and microRNAs were quantified by qRT-PCR. Results: Thirty-nine patients were included (56 %males, mean age=33.1±8.5yo, 62 %focal epilepsies, 59 %structural aetiology): 20(51 %) were responders [mean reduction in seizure frequency=54 %(17-100 %); 10 had ≥50 % reduction]; 25(64 %) reported qualitative benefit in seizures and 21(54 %) reported cognitive benefits. At pre-treatment baseline, a panel combining serum levels of all studied microRNAs predicted seizure reduction (AUC=0.839, p<0.0001), qualitative benefit in seizures (AUC=0.683, p=0.048) and in cognition (AUC=0.751, p<0.01) at 3months. miR-146a was the only significant microRNA when evaluated in isolation. There was no statistical correlation in the biomarkers when a ≥50 % seizure reduction was compared to <50 %. Conclusions: A panel combining pre-treatment serum levels of miR-146a, miR-155, miR-134, miR-21 and miR-22 predicted any reduction in seizures with MAD in adults with DRE at 3months. This panel may be a promising biomarker and a useful tool in the selection of patients.
- Effectiveness of XBB.1.5 Vaccines Against Symptomatic SARS‐CoV‐2 Infection in Older Adults During the JN.1 Lineage‐Predominant Period, European VEBIS Primary Care Multicentre Study, 20 November 2023–1 March 2024Publication . Merdrignac, Lore; Laniece Delaunay, Charlotte; Verdasca, Nuno; Vega‐Piris, Lorena; O'Donnell, Joan; Sève, Noémie; Trobajo‐Sanmartín, Camino; Buda, Silke; Hooiveld, Mariëtte; Rodrigues, Ana Paula; Túri, Gergő; Latorre‐Margalef, Neus; Mlinarić, Ivan; Lazar, Mihaela; Maurel, Marine; Castrillejo, Daniel; Bennett, Charlene; Rameix‐Welti, Marie‐Anne; Martínez‐Baz, Iván; Dürrwald, Ralf; Meijer, Adam; Melo, Aryse; Oroszi, Beatrix; Hagey, Tove Samuelsson; Kurečić Filipović, Sanja; Dijkstra, Frederika; Gómez, Verónica; Bacci, Sabrina; Kaczmarek, Marlena; Kissling, Esther; VEBIS Primary Care Vaccine Effectiveness GroupWe estimated XBB.1.5 vaccine effectiveness (VE) against symptomatic SARS-CoV-2 infection among adults aged ≥65 years during the 2023/2024 JN.1 lineage-predominant period in a European multi-country test-negative case–control study at primary care level. We estimated VE adjusted by study site, age, sex, chronic conditions and onset date. We included 220 cases and 1733 controls. The VE was 48% (95% CI: 12–71), 23% (95% CI: −11–48) and 5% (95% CI: −92–56) among those with symptom onset 1–5, 6–11, and ≥12weeks after vaccination, respectively. XBB.1.5 vaccine provided short and moderate protection against JN.1 symptomatic infection.
- Investigating p.Ala1035Val in NPC1: New Cellular Models for Niemann–Pick Type C DiseasePublication . David, Hugo; Monfregola, Jlenia; Ribeiro, Isaura; Cardoso, Maria Teresa; Sandiares, Ana Catarina; Moreira, Luciana; Coutinho, Maria Francisca; Quelhas, Dulce; Ballabio, Andrea; Alves, Sandra; Encarnação, MarisaNiemann-Pick type C (NPC) is a lysosomal storage disorder (LSD) caused by pathogenic variants in either the NPC1 or NPC2 genes, which encode proteins involved in the lysosomal export of unesterified cholesterol. In patients of Western European descent, the p.Ile1061Thr variant in NPC1 is especially prevalent. However, mounting evidence has positioned p.Ala1035Val as the most common variant in Portugal and the second most prevalent variant worldwide. By analyzing 10 Portuguese NPC patients homozygous for p.Ala1035Val, we found an SNP in cis on position 858 (p.Ile858Val), which we hypothesize could have a disease-modifying effect. To address this query, we created variant-specific in vitro models of NPC by stably transducing NPC1-/- ARPE-19 cells with constructs encoding different fluorescently-tagged variants of NPC1, which we used, alongside patient-derived skin fibroblasts, to investigate lysosomal positioning and the trafficking routes elicited by p.Ile1061Thr and p.Ala1035Val (with and without the p.Ile858Val SNP in cis). Our results corroborate the previously described decrease in p.Ile1061Thr-NPC1 trafficking to the lysosome and suggest a similar, if not worse, scenario for the p.Ala1035Val variant, especially when in cis with p.Ile858Val. This is the first reported functional study addressing the impact of the p.Ala1035Val variant at the cellular level, paving the way for novel therapeutic options.