Browsing by Issue Date, starting with "2022"
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- New “Omics” Approaches as Tools to Explore Mechanistic NanotoxicologyPublication . Ventura, Célia; Torres, Vukosava; Vieira, Luís; Gomes, Bruno; Rodrigues, António Sebastião; Rueff, José; Penque, Deborah; Silva, Maria JoãoIn the last years, “omics” approaches have been applied to study the toxicity of nanomaterials (NM) with the aim of obtaining insightful information on their biological effects. One of the most developed “omics” field, transcriptomics, expects to find unique profiles of differentially expressed genes after exposure to NM that, besides providing evidence of their mechanistic mode of action, may also be used as biomarkers for biomonitoring purposes. Moreover, several NM have been associated with epigenetic alterations, i.e., changes in the regulation of gene expression caused by differential DNA methylation, histone tail modification and microRNA expression. Epigenomics research focusing on DNA methylation is increasingly common and the role of microRNAs is being better understood, either promoting or suppressing biological pathways. Moreover, the proteome is a highly dynamic system that changes constantly in response to a stimulus. Therefore, proteomics can identify changes in protein abundance and/ or variability that lead to a better understanding of the underlying mechanisms of action of NM while discovering biomarkers. As to genomics, it is still not well developed in nanotoxicology. Nevertheless, the individual susceptibility to NM mediated by constitutive or acquired genomic variants represents an important component in understanding the variations in the biological response to NM exposure and, consequently, a key factor to evaluate possible adverse effects in exposed individuals. By elucidating the molecular changes that are involved NM toxicity, the new “omics” studies are expected to contribute to exclude or reduce the handling of hazardous NM in the workplace and support the implementation of regulation to protect human health.
- Plano de Atividades 2022Publication . Instituto Nacional de Saúde Doutor Ricardo Jorge, IP; Rama, Patrícia; Costa, SofiaPlano de atividades do Instituto Nacional de Saúde Doutor Ricardo Jorge (INSA) para o ano de 2022. O INSA é um organismo público integrado na administração indireta do Estado, sob a tutela do Ministério da Saúde. Enquanto Laboratório do Estado, o Instituto tem por missão contribuir para ganhos em saúde pública através de atividades de investigação e desenvolvimento tecnológico, atividade laboratorial de referência, observação da saúde e vigilância epidemiológica, bem como coordenar a avaliação externa da qualidade laboratorial, difundir a cultura científica, fomentar a capacitação e formação e ainda assegurar a prestação de serviços diferenciados, nos referidos domínios. Este instrumento constitui um referencial para a atividade a desenvolver pelo Instituto durante este ano, baseado nas estratégias, objetivos e metas institucionalmente consensualizados.
- Multilocus genotyping of Aspergillus fumigatus isolated from patients diagnosed with COVID Associated Pulmonary Aspergillosis (CAPA)Publication . Morais, Susana; Toscano, Cristina; Simões, Helena; Carpinteiro, Dina; Viegas, Carla; Verissímo, Cristina; Sabino, RaquelAspergillus fumigatus is an environmental fungus responsible for causing severe invasive infections, especially in immunocompromised individuals. In 2020, during SARS-CoV-2 pandemics, a high number of cases of pulmonary aspergillosis was detected in COVID-19 patients, leading to the definition of CAPA (COVID-19 associated pulmonary aspergillosis). Patients with CAPA harbor many baseline prognostic factors with negative effects on survival, which might be further compromised by azole-resistant Aspergillus isolates. With the purpose of understanding the diversity of A. fumigatus isolates collected from CAPA patients, we applied a multilocus genotyping methodology (STRAf assay), using three trinucleotide microsatellite markers (99% discriminatory power) to 100 A. fumigatus isolates from different sources. From the isolates analyzed during the study, 85 multilocus genotypes were found. A high diversity of genotypes in CAPA isolates was observed. However, some of those isolates shared genetic similarity since they were collected from patients in the same hospital. Given the ubiquity of A. fumigatus, it is likely that patients may have shared the same contamination source within the hospital environment. In other isolates several multilocus genotypes were shared, reinforcing studies in the One Health Context. In conclusion, CAPA is yet poorly understood due to the lack of studies including isolates collected from COVID patients. Thus, molecular analysis of genetic and epidemiological relationship between those isolates may allow us to assess their potential origin and transmission routes.
- HBM4EU - Mycotoxins: video disseminationPublication . Alvito, Paula; Viegas, Susana; Silva, Maria JoãoVídeo de disseminação do HBM4EU sobre micotoxinas, efeitos na saúde humana, legislação e exposição humana
- Nanotoxicology in Safety Assessment of NanomaterialsPublication . Louro, Henriqueta; Silva, Maria JoãoSince its advent, nanotechnologies are considered key enabling technologies that take advantage of a wide array of nanomaterials (NMs) for biomedical and industrial applications generating significant societal and economic benefits. However, such innovation increases human exposure to these substances through inhalation, ingestion or dermal contact raising public health concerns. Furthermore, the NMs’ specific physicochemical properties, that confer them unique beneficial characteristics, can also elicit nano-bio interactions leading to toxicity and concerns for public health. In addition, such properties can be affected by the surrounding matrix, particularly when incorporated in complex matrices such as food products, leading to secondary features potentially more relevant than primary characteristics for determining their toxicological outcome. These nano specific issues raise the question of whether the NMs may produce adverse outcomes that are not accounted for when using conventional toxicological approaches to assess their safety. Such uncertainties about the safety of NMs for human health and the environment may hamper a faster and more widespread exploration of their potentials. In response, the NMs definition has evolved, and nanotoxicology has developed towards new and more integrative approach methods to support regulatory and policy actions. This book provides a perspective on recent developments in the synthesis, application, and characterization of NMs and the related nanotechnologies, focusing on nanotoxicology for their accurate safety assessment early in the product development stage. The use of complex in vitro models, including multicellular systems and organoids, and “omics-based” approaches, such as transcriptomics or epigenomics, have greatly contributed to an in-depth understanding of the cellular and molecular mechanisms behind some NMs toxicity. Such mechanistic knowledge is equally addressed in this book and has set the basis for a predictive nanotoxicology approach building on adverse outcome pathways. In addition, considering the knowledge provided by the above-mentioned approaches, insights into risk assessment, standardization, and regulation of NMs are also included. Incorporating adequate nanosafety assessment early in the life-cycle of NMs will allow the implementation of the safe and sustainable-by-design paradigm enabling safety to keep pace with innovation.
- Relatório de Atividades 2021Publication . Instituto Nacional de Saúde Doutor Ricardo Jorge, IP; Rama, Patrícia; Costa, SofiaO presente instrumento de gestão do Instituto Nacional de Saúde Doutor Ricardo Jorge (INSA) relativo ao ano de 2021 tem três grandes objetivos: 1) Averiguar a concretização do Quadro de Avaliação e Responsabilização (QUAR) e do Plano de Atividades (PA) de 2021, nomeadamente, avaliar a estratégia assumida através dos seus objetivos estratégicos, verificando o grau de realização dos programas e dos objetivos operacionais que foram propostos nestes documentos; 2) Disponibilizar informação institucional relativa à execução do orçamento, à alocação de recursos humanos, financeiros e técnicos; 3) Demonstrar quantitativa, e qualitativamente, a informação relativa às funções essenciais do Instituto, aos Departamentos Técnico Científicos (DTC), ao Museu da Saúde e aos Serviços de Suporte.
- Infográfico - Hipercolesterolemia Familiar 1999-2021Publication . Equipa do Estudo Português de Hipercolesterolemia FamiliarInfográfico no âmbito do Estudo Português de Hipercolesterolemia Familiar. Coordenado e desenvolvido pelo INSA desde 1999, com a colaboração de vários clínicos de todo o país, este trabalho visa identificar a causa da genética da hipercolesterolemia em indivíduos com critérios clínicos de Hipercolesterolemia Familiar (FH). Entre 1999 e 2021, foram estudados 1163 indivíduos com critérios clínicos de FH, e 2137 familiares, encontrando-se identificados geneticamente 988 indivíduos com FH (344 crianças e 644 adultos), em que 18% dos adultos apresentam já uma doença cardiovascular prematura que poderia ter sido evitada se todos os doentes fossem identificados em idade jovem e aconselhados e tratados de forma a reduzir o seu risco cardiovascular. Esta identificação precoce poderia acontecer se fosse implementado o screening pediátrico da FH. A FH é uma doença genética e hereditária, caracterizada por elevados níveis de colesterol desde o nascimento, que levam ao aparecimento de aterosclerose e doenças cardiovasculares precoces, mas para a qual existem métodos de diagnóstico e tratamentos eficazes disponíveis. Pessoas com FH têm um risco cardiovascular aumentado se não forem identificadas em idade jovem, de forma a começarem logo a fazer terapêutica para baixar o colesterol, recomendada a partir dos 8 anos de idade. Considerada uma das doenças genéticas mais frequentes e a que mais se associa ao aumento do risco cardiovascular, a FH surge devido a uma alteração num dos três genes responsáveis pela remoção do colesterol do sangue, apresentando os indivíduos com esta alteração um risco muito elevado de sofrerem uma doença cardiovascular prematura. Segundo a Sociedade Europeia de Aterosclerose, cerca de dois milhões de pessoas na Europa têm FH.
- COVID-19 and children with congenital anomalies: a European survey of parents’ experiences of healthcare servicesPublication . Latos-Bieleńska, Anna; Marcus, Elena; Jamry-Dziurla, Anna; Rankin, Judith; Barisic, Ingeborg; Cavero- Carbonell, Clara; Den Hond, Elly; Garne, Ester; Genard, Lucas; Santos, Ana João; Lutke, L Renée; Matias Dias, Carlos; Neergaard Pedersen, Christina; Neville, Amanda; Niemann, Annika; Odak, Ljubica; Páramo-Rodríguez, Lucía; Pierini, Anna; Rissmann, Anke; Morris, Joan K.Objective: To survey parents and carers of children with a congenital anomaly across Europe about their experiences of healthcare services and support during the COVID-19 pandemic. Design: Cross-sectional study. Setting Online survey in 10 European countries, openfrom 8 March 2021 to 14 July 2021.Population: 1070 parents and carers of children aged 0–10 years with a cleft lip, spina bifida, congenital heart defect (CHD) requiring surgery and/or Down syndrome. Main outcome measures: Parental views about: the provision of care for their child (cancellation/postponement of appointments, virtual appointments, access to medication), the impact of disruptions to healthcare on their child’s health and well-being,and satisfaction with support from medical sources, organisations and close relationships. Results: Disruptions to healthcare appointments were significantly higher (p<0.001) in the UK and Poland, with approximately two-thirds of participants reporting‘ cancelled or postponed’ tests (67/101; 256/389) and procedures compared with approximately 20% in Germany (13/74) and Belgium/Netherlands (11/55). A third of participants in the UK and Poland reported ‘cancelled or postponed’ surgeries (22/72; 98/266) compared with only 8% in Germany (5/64). In Poland, 43% (136/314) of parents reported that changes to their child’s ongoing treatment had moderately to severely affected their child’s health, significantly higher than all other countries (p<0.001). Satisfaction ratings for support from general practitioners were lowest in the UK and Poland, and lowest in Poland and Italy for specialist doctors and nurses. Conclusion: A large proportion of participants reported disruptions to healthcare during the pandemic, which for some had a significant impact on their child’s health. Regional differences in disruptions raise questions about the competence of certain healthcare systems to meet the needs of this vulnerable group of patients and indicate improvements should be strived for in some regions.
- Internal Ribosome Entry Site-Dependent Translation Dysregulation-Related DiseasesPublication . Marques, Rita; Lacerda, Rafaela; Romão, LuísaInternal ribosome entry site (IRES)-mediated translation is an alternative mechanism of translation initiation, known for maintaining protein synthesis when canonical translation is impaired. During a stress response, it contributes to cell reprogramming and adaptation to the new environment.
- Micotoxinas, o que precisa saberPublication . Alvito, Paula; Viegas, Susana; Silva, Maria JoãoInfográfico sobre micotoxinas desenvolvido no âmbito do projeto HBM4EU. HBM4EU is a joint effort of 30 countries, the European Environment Agency and the European Commission.