Browsing by Issue Date, starting with "2020-05"
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- Personalised Medicine and Data SharingPublication . Moura Vicente, AstridThe “1+ Million Genomes” (1+MG) initiative is a cooperation mechanism involving by now 24 countries and was launched on Digital Day 2018. Countries meet on a regular basis in order to make sure that the aim of the 1+MG Declaration - to have at least 1 million sequenced genomes accessible in the EU by 2022 - is achieved. Genomics has the potential to revolutionise healthcare in many ways. It could lead to the development of more targeted personalised medicines, therapies and interventions. It could also enable better diagnostics, boost prevention and make more efficient use of scarce resources. From cancer, to rare diseases, neuro diseases and prevention, genomics can greatly improve health conditions of EU citizens. Equally important, genomics has the potential to improve the effectiveness, accessibility, sustainability and resilience of health systems in the European Union
- Successful weight loss maintenance: A systematic review of weight control registriesPublication . Paixão, Catarina; Dias, Carlos M.; Jorge, Rui; Carraça, Eliana V.; Yannakoulia, Mary; Zwaan, Martina; Soini, Sirpa; Hill, James O.; Teixeira, Pedro J.; Santos, InêsWeight loss maintenance is a major challenge for obesity treatment. Weight control registries can be useful in identifying psychological and behavioural factors that could contribute to better long-term success. The objective of this study is to describe the existing weight control registries and their participants and identify correlates of weight loss maintenance. A comprehensive search of peer-reviewed articles published until November 2018 was conducted in PubMed, Web of Science, and Scopus. Studies that reported results from weight control registries were considered. Fifty-two articles, corresponding to five registries (the United States, Portugal, Germany, Finland, and Greece), were included. Registries differed in inclusion criteria and procedures. Of 51 identified weight loss and maintenance strategies, grouped in 14 domains of the Oxford Food and Activity Behaviors taxonomy, the following were the most frequently reported: having healthy foods available at home, regular breakfast intake, increasing vegetable consumption, decreasing sugary and fatty foods, limiting certain foods, and reducing fat in meals. Increased physical activity was the most consistent positive correlate of weight loss maintenance. To our knowledge, this is the first systematic review of information about successful weight loss maintenance obtained from weight control registries. Key common influential characteristics of success were identified, which can inform future prospective studies and weight management initiatives.
- Chorionic villus sampling: 10 years of experience in a University referral centerPublication . Martins, Ana Teresa; Francisco, Carla; Correia, Hildeberto; Cohen, ÁlvaroObjectives: The purpose of this study was to estimate our center-specific CVS-related miscarriage rate. Methods: This is an observational retrospective study of women submitted to a CVS in our hospital, between January 1st, 2007 and December 31st, 2016. Maternal and pregnancy characteristics, procedure details, genetic results and pregnancy outcomes of all patients were collected. The FMF miscarriage risk algorithm was used to estimate our population expected risk of miscarriage. To establish the procedure-related risk of miscarriage, we compared the observed with the expected miscarriage rate. Results: We had a total number of 1523 women with a singleton pregnancy who did a CVS over the 10-year period. The mean maternal age was 34 years old; the majority of the women was Caucasian, multiparous and had a spontaneous pregnancy. The most common indication for CVS was a high-risk result in the 1st trimester combined screening test. The karyotype was normal in 72,7% of cases, 11,1% were T21 and 7,2% were T13 or T18. In the study group, 33 women were diagnosed with a fetal demise, 435 had a TOP and there were 4 intrauterine deaths and 34 miscarriages. The rate of miscarriage in our population was 3,2% and the expected patient specific risk for miscarriage was 3,0%. There was no statistical significance between the two miscarriage rates p = 0,705. Conclusion: In our study the risk of miscarriage in the CVS group was not significantly different from that the expected patient specific risk (3.2 % vs 3%, p = 0.7). The procedure-related risk of miscarriage was 0,2%, similar to the rates describe in the literature. An accurate risk of pregnancy loss should be used when counseling women for CVS to allow an informed decision.
- Infográfico - Acidentes Domésticos e de LazerPublication . Departamento de EpidemiologiaEm Portugal, a vigilância dos acidentes domésticos e de lazer (ADL) notificados pelas urgências de unidades de saúde do Serviço Nacional de Saúde (SNS) assenta no sistema EVITA - Epidemiologia e Vigilância dos Traumatismos e Acidentes, coordenado pelo Departamento de Epidemiologia do Instituto Nacional de Saúde Doutor Ricardo Jorge, em colaboração com a Administração Central dos Sistemas de Saúde. Este registo e sistema de vigilância tem como objetivo determinar frequências e tendências relativas à ocorrência deste tipo de acidentes, onde se incluem os acidentes ocorridos em ambiente doméstico, lazer, escolar e desportivo. O infográfico apresentado tem como fonte de dados o sistema EVITA, tratando-se de uma informação proveniente das notificações recebidas da rede de hospitais com serviço de urgência do Serviço Nacional de Saúde (SNS), que integraram o sistema EVITA durante o ano de 2019. Criado em 2000, este instrumento de observação permite caracterizar as vítimas quanto às situações, circunstâncias do local da ocorrência e das lesões sofridas, assim como, quanto aos agentes envolvidos.
- Lichen Vitality After a Space Flight on Board the EXPOSE-R2 Facility Outside the International Space Station: Results of the Biology and Mars ExperimentPublication . Noetzel, Rosa de la Torre; Garcia, Maria Victoria Ortega; Miller, Ana Zelia; Bassy, Olga; Granja, Carmen; Cubero, Beatriz; Jordao, Luisa; Frias, Jesus Martinez; Rabbow, Elke; Backhaus, Theresa; Ott, Sieglinde; Sancho, Leopoldo Garcia; de Vera, Jean-Pierre PaulAs part of the Biology and Mars Experiment (BIOMEX; ILSRA 2009-0834), samples of the lichen Circinaria gyrosa were placed on the exposure platform EXPOSE-R2, on the International Space Station (ISS) and exposed to space and to a Mars-simulated environment for 18 months (2014–2016) to study: (1) resistance to space and Mars-like conditions and (2) biomarkers for use in future space missions (Exo-Mars). When the experiment returned (June 2016), initial analysis showed rapid recovery of photosystem II activity in the samples exposed exclusively to space vacuum and a Mars-like atmosphere. Significantly reduced recovery levels were observed in Sun-exposed samples, and electron and fluorescence microscopy (transmission electron microscope and field emission scanning electron microscope) data indicated that this was attributable to the combined effects of space radiation and space vacuum, as unirradiated samples exhibited less marked morphological changes compared with Sun-exposed samples. Polymerase chain reaction analyses confirmed that there was DNA damage in lichen exposed to harsh space and Mars-like environmental conditions, with ultraviolet radiation combined with space vacuum causing the most damage. These findings contribute to the characterization of space- and Mars-resistant organisms that are relevant to Mars habitability.
- Nanoparticle exposure and hazard in the ceramic industry: an overview of potential sources, toxicity and health effectsPublication . Bessa, Maria João; Brandão, Fátima; Viana, Mar; Gomes, João F.; Monfort, Eliseo; Cassee, Flemming R.; Fraga, Sónia; Teixeira, João PauloThe ceramic industry is an industrial sector of great impact in the global economy that has been benefiting from advances in materials and processing technologies. Ceramic manufacturing has a strong potential for airborne particle formation and emission, namely of ultrafine particles (UFP) and nanoparticles (NP), meaning that workers of those industries are at risk of potential exposure to these particles. At present, little is known on the impact of engineered nanoparticles (ENP) on the environment and human health and no established Occupational Exposure Limits (OEL) or specific regulations to airborne nanoparticles (ANP) exposure exist raising concerns about the possible consequences of such exposure. In this paper, we provide an overview of the current knowledge on occupational exposure to NP in the ceramic industry and their impact on human health. Possible sources and exposure scenarios, a summary of the existing methods for evaluation and monitoring of ANP in the workplace environment and proposed Nano Reference Values (NRV) for different classes of NP are presented. Case studies on occupational exposure to ANP generated at different stages of the ceramic manufacturing process are described. Finally, the toxicological potential of intentional and unintentional ANP that have been identified in the ceramic industry workplace environment is discussed based on the existing evidence from in vitro and in vivo inhalation toxicity studies.
- Invasive pulmonary aspergillosis treatment duration in haematology patients in Europe: An EFISG, IDWP‐EBMT, EORTC‐IDG and SEIFEM surveyPublication . Lanternier, Fanny; Seidel, Danila; Pagano, Livio; Styczynski, Jan; Mikulska, Malgorzata; Pulcini, Celine; Maertens, Johan; Munoz, Patricia; Garcia‐Vidal, Carol; Rijnders, Bart; Arendrup, Maiken Cavling; Sabino, Raquel; Verissimo, Cristina; Gaustad, Peter; Klimko, Nikolay; Arikan‐Akdagli, Sevtap; Arsic, Valentina; Barac, Aleksandra; Skiada, Anna; Klingspor, Lena; Herbrecht, Raoul; Donnelly, Peter; Cornely, Oliver A.; Lass‐Flörl, Cornelia; Lortholary, OlivierInvasive pulmonary aspergillosis (IPA) optimal duration of antifungal treatment is not known. In a joint effort, four international scientific societies/groups performed a survey to capture current practices in European haematology centres regarding management of IPA. We conducted a cross-sectional internet-based questionnaire survey in 2017 to assess practices in sixteen European countries concerning IPA management in haematology patients including tools to evaluate treatment response, duration and discontinuation. The following four groups/societies were involved in the project: European Society of Clinical Microbiology and Infectious Diseases (ESCMID) Fungal Infection Study Group (EFISG), Infectious Diseases Working Party-European Society for Blood and Bone Marrow Transplantation (IDWP-EBMT), European Organisation for Research and Treatment-Infectious Disease group (EORTC-IDG) and Sorveglianza Epidemiologica Infezioni nelle Emopatie (SEIFEM). A total of 112 physicians from 14/16 countries answered the survey. Galactomannan antigen was available in serum and bronchoalveolar lavage in most centres (106/112 [95%] and 97/112 [87%], respectively), quantitative Aspergillus PCR in 27/112 (24%) centres, β-D-glucan in 24/112 (21%) and positron emission tomography in 50/112 (45%). Treatment duration differed between haematological malignancies, with a median duration of 6 weeks [IQR 3-12] for patients with AML, 11 [4-12] for patients with allogenic stem cell transplantation and GvHD and 6 [3-12] for patients with lymphoproliferative disease. Treatment duration significantly differed according to country. Essential IPA biomarkers are not available in all European countries, and treatment duration is highly variable according to country. It will be important to provide guidelines to help with IPA treatment cessation with algorithms according to biomarker availability.
- Vaccine effectiveness against influenza A(H3N2) and B among laboratory‐confirmed, hospitalised older adults, Europe, 2017‐18: A season of B lineage mismatched to the trivalent vaccinePublication . Rose, Angela M.C.; Kissling, Esther; Gherasim, Alin; Casado, Itziar; Bella, Antonino; Launay, Odile; Lazăr, Mihaela; Marbus, Sierk; Kuliese, Monika; Syrjänen, Ritva; Machado, Ausenda; Kurečić Filipović, Sanja; Larrauri, Amparo; Castilla, Jesús; Alfonsi, Valeria; Galtier, Florence; Ivanciuc, Alina; Meijer, Adam; Mickiene, Aukse; Ikonen, Niina; Gómez, Verónica; Lovrić Makarić, Zvjezdana; Moren, Alain; Valenciano, Marta; I-MOVE Hospital study teamBackground: Influenza A(H3N2), A(H1N1)pdm09 and B viruses co-circulated in Europe in 2017-18, predominated by influenza B. WHO-recommended, trivalent vaccine components were lineage-mismatched for B. The I-MOVE hospital network measured 2017-18 seasonal influenza vaccine effectiveness (IVE) against influenza A(H3N2) and B among hospitalised patients (≥65 years) in Europe. Methods: Following the same generic protocol for test-negative design, hospital teams in nine countries swabbed patients ≥65 years with recent onset (≤7 days) severe acute respiratory infection (SARI), collecting information on demographics, vaccination status and underlying conditions. Cases were RT-PCR positive for influenza A(H3N2) or B; controls: negative for any influenza. "Vaccinated" patients had SARI onset >14 days after vaccination. We measured pooled IVE against influenza, adjusted for study site, age, sex, onset date and chronic conditions. Results: We included 3483 patients: 376 influenza A(H3N2) and 928 B cases, and 2028 controls. Most (>99%) vaccinated patients received the B lineage-mismatched trivalent vaccine. IVE against influenza A(H3N2) was 24% (95% CI: 2 to 40); 35% (95% CI: 6 to 55) in 65- to 79-year-olds and 14% (95% CI: -22 to 39) in ≥80-year-olds. Against influenza B, IVE was 30% (95% CI: 16 to 41); 37% (95% CI: 19 to 51) in 65- to 79-year-olds and 19% (95% CI: -7 to 38) in ≥80-year-olds. Conclusions: IVE against influenza B was similar to A(H3N2) in hospitalised older adults, despite trivalent vaccine and circulating B lineage mismatch, suggesting some cross-protection. IVE was lower in those ≥80 than 65-79 years. We reinforce the importance of influenza vaccination in older adults as, even with a poorly matched vaccine, it still protects one in three to four of this population from severe influenza.
- Induced pluripotent stem cell line (INSAi002-A) from a Fabry Disease patient hemizygote for the rare p.W287X mutationPublication . Duarte, Ana; Ribeiro, Diogo; Santos, Renato; Moreira, Luciana; Bragança, José; Amaral, OlgaFabry Disease (FD) is a multisystemic X-linked disorder that belongs to the group of lysosomal storage disorders (LSDs). Causal mutations on alpha-galactosidase A (α-Gal A) commonly lead to abnormal protein and consequently to FD. Since it is an X-linked disease, males are primarily affected. This work describes the generation of induced Pluripotent Stem Cells (iPSCs) from skin fibroblasts from a FD patient, using non-integrative episomal vectors. Differentiation of iPSCs can be applied to generate a variety of cell types with high degree of genetic complexity that would otherwise be difficult to obtain.
- Cytotoxicity and genotoxicity of MWCNT-7 and crocidolite: assessment in alveolar epithelial cells versus their coculture with monocyte-derived macrophagesPublication . Ventura, Célia; Pereira, Joana F.S.; Matos, Paulo; Marques, Bárbara; Jordan, Peter; Sousa-Uva, António; Silva, Maria JoãoIn the past years, several in vitro studies have addressed the pulmonary toxicity of multi-walled carbon nanotubes (MWCNT) and compared it with that caused by asbestos fibers, but their conclusions have been somewhat inconsistent and difficult to extrapolate to in vivo. Since cell coculture models were proposed to better represent the in vivo conditions than conventional monocultures, this work intended to compare the cytotoxicity and genotoxicity of MWCNT-7 (Mitsui-7) and crocidolite using A549 cells grown in a conventional monoculture or in coculture with THP-1 macrophages. Although a decrease in A549 viability was noted following exposure to a concentration range of MWCNT-7 and crocidolite, no viability change occurred in similarly exposed cocultures. Early events indicating epithelial to mesenchymal transition (EMT) were observed which could explain apoptosis resistance. The comet assay results were similar between the two models, being positive and negative for crocidolite and MWCNT-7, respectively. An increase in the micronucleus frequency was detected in the cocultured A549-treated cells with both materials, but not in the monoculture. On the other hand, exposure of A549 monocultures to MWCNT-7 induced a highly significant increase in nucleoplasmic bridges in which those were found embedded. Our overall results demonstrate that (i) both materials are cytotoxic and genotoxic, (ii) the presence of THP-1 macrophages upholds the viability of A549 cells and increases the aneugenic/clastogenic effects of both materials probably through EMT, and (iii) MWCNT-7 induces the formation of nucleoplasmic bridges in A549 cells.