National Institute of Health Dr. Ricardo Jorge
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Cumulus cells damage can help to indirectly predict oocyte quality in infertile females undergoing ICSI
No full textIntroduction: Intracytoplasmic sperm injection (ICSI) is currently used in clinical practice for couples with fertility issues. Some studies have shown an association between male reproductive ability and sperm DNA damage levels, assessed by comet assay. However, little is known regarding this endpoint and female fertility, mostly due to tissue accessibility. To overcome this, we used cumulus cells (CC) to analyze DNA damage in search of correlation with clinical parameters evaluated in the context of infertility. Methodology: DNA damage was assessed via comet assay, in two different tissues, blood and CC, from females undergoing ICSI: 22 potentially fertile and 35 infertile. DNA damage levels (%TDNA) were compared between the two groups (fertile vs infertile), and correlated, within each group, with hormone levels, stimulation days, number of cumulus-oocyte complexes (COCs) retrieved, and oocytes injected. All analysis were performed using SigmaPlot version 14.0 (Systat Software®Inc., Chicago, IL, United States). Results: No significant differences were found in %TDNA levels between the 2 groups. However, the DNA damage observed in CC was notably increased in the infertile females when compared to the potentially fertile, although it did not reach statistical significance. Interestingly, %TDNA in CC was significantly correlated with the number of oocytes injected, in both groups. This finding was not observed in the blood. Moreover, the difference between number of COCs retrieved and oocytes injected was significantly higher in the infertile females group and showed a correlation with the damage observed in CC. Discussion: Our results established a correlation between DNA damage in CC and oocyte quality. CC support and nurture oocytes during development, but DNA damage in CC can predict a reduced oocyte quality and availability for injection. This finding underscores the importance of CC in
oocyte development and emphasizes the need to consider tissue-specific effects in DNA damage studies, particularly those related to fertility and reproductive health. Nevertheless, further studies are needed to confirm our results.N/
Implementation Gaps of the Portuguese Nacional Health Plan 2012 2021: Evidence Mapping Analysis
Get PDFAbstract publicado em: European Journal of Public Health. 2023 Oct;33(Suppl 2). https://doi.org/10.1093/eurpub/ckad160.1659The National Institute of Health Doutor Ricardo Jorge (INSA) is responsible for carrying out the evaluation of the Portuguese National Health Plan (PNS) 2012-2016, extended to 2020 (and later to 2021). As part of PNS evaluation, this study aims to identify gaps in the implementation of the PNS 2012-2021, and to identify the degree of alignment and coherence between the strategic axis, goals, and monitoring framework issued by the PNS at different levels of implementation (national, regional, local and municipal).
Methods: A mix study, employing both qualitative and quantitative approaches was performed based upon a modified scoping review. Portuguese healthcare institutional websites and municipality websites were identified as the main data sources and secondary data were gathered. Evidence (plans, programs, or strategies) with publication date between 2015 and 2020 were included. A data collection matrix was validated by a group of experts from major stakeholders from academia and public health services. The matrix included 3 main categories following the PNS intervention logic (5 strategic axis, 4 goals and 37 monitoring indicators).
Results: A total of 204 documents met the inclusion criteria. Evidence from national level (55%) and local level (35%) represented about 90% of the sample. Overall, three implementation gaps were identified: 1) absence of two Regional Health Plans (in a total of 5 mainland health regions); 2) lack of about 1/3 of the expected Local Health Plans (16 out of 53) and, 3) low transposition (or approximation) of the PNS monitoring framework into the hospital and primary care contract-programs, one of the main management tools for planning.
Conclusions: The identification and analysis of implementation gaps contribute to the final evaluation of the PNS. Moreover, the results can guide the next planning cycle pointing out sensitive areas of implementation which need more attention from various stakeholders.Key messages: - Implementation gaps can compromise the impact of PNS as the strategic tool to set the necessary health interventions and their alignment at national, regional and local level of implementation. - The next planning cycle should tackle the identified implementation gaps with the purpose of strengthen PNS as a strategic planning platform and with the aim of maximize population health gains.N/
REVIVE - Rede de Vigilância de Vetores: a chegada do invasor asiático, Aedes albopictus
No full textO programa REVIVE (Rede de Vigilância de Vectores resulta de protocolo entre a Direção-Geral da Saúde, as Administrações Regionais
de Saúde do Algarve, Alentejo, Centro, Lisboa e Vale do Tejo e do Norte, o Instituto dos Assuntos Sociais e da Saúde da Madeira, a
Direção Regional de Saúde dos Açores e o Instituto Nacional de Saúde Doutor Ricardo Jorge Este programa de vigilância entomológica visa
- monitorizar a atividade de artrópodes hematófagos, nomeadamente mosquitos Culicidae carraças Ixodidae e flebótomos Psychodidae
- caracterizar as espécies e sua ocorrência sazonal,
- e identificar agentes patogénicos importantes em saúde pública.N/
Measuring DNA modifications with the comet assay: a compendium of protocols
No full textThe comet assay is a versatile method to detect nuclear DNA damage in individual eukaryotic cells, from yeast to human. The types of damage detected encompass DNA strand breaks and alkali-labile sites (e.g., apurinic/apyrimidinic sites), alkylated and oxidized nucleobases, DNA-DNA crosslinks, UV-induced cyclobutane pyrimidine dimers and some chemically induced DNA adducts. Depending on the specimen type, there are important modifications to the comet assay protocol to avoid the formation of additional DNA damage during the processing of samples and to ensure sufficient sensitivity to detect differences in damage levels between sample groups. Various applications of the comet assay have been validated by research groups in academia, industry and regulatory agencies, and its strengths are highlighted by the adoption of the comet assay as an in vivo test for genotoxicity in animal organs by the Organisation for Economic Co-operation and Development. The present document includes a series of consensus protocols that describe the application of the comet assay to a wide variety of cell types, species and types of DNA damage, thereby demonstrating its versatility.We thank the hCOMET project (COST Action, CA 15132) for support. A. Azqueta thanks the Ministry of Science and Innovation
(AGL2015-70640-R and PID2020-115348RB-I00) of the Spanish Government. S.G. thanks the national funds (OE), through FCT—
Fundação para a Ciência e a Tecnologia (IP, in the scope of the framework contract foreseen in the numbers 4, 5 and 6 of the article 23, of
the Decree-Law 57/2016, of 29 August, changed by Law 57/2017, of 19 July) for personal support. V.M.d.A. thanks the National Council
of Technological and Scientific Development (CNPq—304203/2018-1) for personal support. D.M. thanks the program ‘Ayudas para la
formación de profesorado universitario (FPU)’ of the Spanish Government for the predoctoral grant received. N.O. thanks the NIEHS
Superfund Research Program ES ES027707 for personal support. J.S.-S. thanks the Government of Navarra for the predoctoral grant
received. V.V. thanks the Ministerio de Educación, Cultura y Deporte (‘Beatriz Galindo’ program, BEAGAL18/00142) of the Spanish
Government for personal support. M.S.C. acknowledges personal support from the National Institute of Environmental Health Sciences
of the National Institutes of Health under award number: 1R41ES030274-01.info:eu-repo/semantics/publishedVersio
Self-reported dermal effects of hand sanitisers in industrial workers
Get PDFArtigo publicado em: Proceedings Book of the SHO2023. https://books.fe.up.pt/index.php/feup/catalog/view/978-989-54863-4-2/332/426Background: During COVID-19 pandemic, preventing the virus spread was extremely important to reduce the overall
burden of the disease, to maintain the companies running and to remain safe. WHO recommended physical distances,
appropriate use of personal protective equipment and hand hygiene practices to reduce the spread. Hand hygiene practice
by using alcohol-based hand sanitisers was generalized in all sectors of activity, including those with no previous need to
implement preventive measures against biological risks. Objective: The aim of this study was to obtain self-reported data
on hand hygiene habits and perceived symptomatology regarding skin health effects associated with skin exposure to
alcohol-based hand sanitisers of industrial workers during COVID-19 pandemic. Method: Between November 2021 and
April 2022, a questionnaire-based descriptive cross-sectional study was conducted using 97 study participants. Results:
The reported information on hands sanitisers used show that most of the participants at work, use the hand sanitizer
provided by the company a alcoholic solution of 2-propanol 70%. Nearly half of the workers disinfected their hands
more than 3 times per day, but at work, there was a concern to also disinfect wrists and forearms. Self-reported dermal
effects show that half of the participants noticed skin dryness with the increased use of hand sanitisers. Application: The
novelty of this work is posed by the type of sample under study (industrial rather than hospital context) which allow
gathering data to build knowledge in this field and to develop guidelines of good practices on how to make adequate
disinfection and to promote skin health in industrial settings.info:eu-repo/semantics/publishedVersio
Unlocking the Potential of Environmental and Health Research with FAIREHR
No full textCurrent challenges in data comparability, integration, and management, hinder effective utilization of the large amount of data generated in environment and health studies. The European chapter of the International Society of Exposure Science (ISES Europe) Human Biomonitoring (HBM) Working Group is developing a global preregistration platform “FAIR Environment and Health Registry (FAIREHR)” to address these challenges. The focus is initially on the HBM domain, towards the implementation of FAIR (findable, accessible, interoperable, reusable) principles throughout the data lifecycle. Preregistration of HBM studies in a peer review-based registry like FAIREHR would stimulate communication and interaction among HBM communities leading to improved HBM study designs as well as generating comparable results worldwide. Using common standards and ontologies will make data better interoperable and functional for machine discovery. FAIREHR will also provide information on data licenses and request procedures necessary to access datasets of interest. Overall, the FAIREHR platform gathers many stakeholders (scientists, regulators, policy makers, life science companies, publishers, and funding bodies) interested in tracking and identifying planned, ongoing, and completed studies. FAIREHR is expected to benefit research, innovation and environment and public health policies by providing FAIR data that can be readily utilized for protecting human health.We acknowledge all the co-authors and members of the ISES Europe HBM Working Group who were involved in conceptualisation of the idea. We also thank to the European Partnership for the Assessment of Risks from Chemicals (PARC) for their supportinfo:eu-repo/semantics/publishedVersio
Normalização em Nanotecnologias SC1 – Terminologia e Nomenclatura
No full textDefinição e desenvolvimento de terminologia e nomenclatura inequívoca e uniforme
no domínio das nanotecnologias, para facilitar a comunicação e promover
o entendimento comum, entre as organizações e os indivíduos na
indústria e aqueles que com eles interagem.info:eu-repo/semantics/publishedVersio
Deleção intersticial 7q33q34 em fetos de gravidez gemelar monocoriónica diamniótica
No full textIntrodução: O acompanhamento de gestações gemelares pode revelar-se desafiante se houver alterações ecográficas e discrepâncias entre os fetos.
Deleções intersticiais 7q, abrangendo diferentes regiões e apresentando tamanho variável, são raras, e encontram-se quase exclusivamente descritas em pós-natal.
Objectivos: Apresentamos o caso de uma gestante, de 32 anos, com gravidez gemelar monocoriónica e diamniótica de 16 semanas, referenciada por bolsas jugulares bilaterais, crescimento no P10-P20 e discrepância no pico sistólico de velocidade da artéria cerebral média (PSV-ACM). Foi efetuada colheita de liquido amniótico para estudo por microarray cromossómico (CMA).
Metodologia: Foi efeituado diagnóstico rápido de aneuploidias (DRA) por QF-PCR (Devyser®), ao que se seguiu CMA com array CytoScan 750K (Thermo Fischer®) e cariótipo.
Resultados: O DRA revelou um resultado normal. O CMA permitiu a identificação de uma deleção intersticial com 9,0 Mb em 7q33q34 - arr[GRCh37] 7q33q34(133411316_142427027)x1. A alteração engloba 12 genes mórbidos. O cariotipo confirmou o resultado: 46,XX,del(7)(q32.3q34)dn. Após aconselhamento genético, o casal optou por interrupção da gestação.
Conclusões: Deleções intersticiais na região 7q32 a 7q35 apresentam grande variabilidade fenotípica. As características mais comuns são: atraso de desenvolvimento e da linguagem, défice intelectual, dismorfias faciais e atraso de crescimento.
Nos raros casos descritos com alterações cromossómicas parcialmente sobreponíveis ao caso em estudo, a CNV tem sido classificada como patogénica.
No único caso com referência ao período pré-natal e com alteração quase totalmente sobreponível, descreve-se decréscimo de movimentos fetais, baixo peso à nascença, atraso de desenvolvimento, défice intelectual, dismorfias faciais e infeções múltiplas.
A alteração cromossómica encontrada poderá explicar a relativa restrição de crescimento fetal, não tendo as bolsas jugulares, presentes em ambos os fetos e a discrepância PSV-ACM sido até agora descritos.
Gestações com alterações ecográficas e CNVs, mas com reduzida bibliografia, são desafiantes na interpretação dos resultados a nível laboratorial e clínico. Só a descrição de mais casos permitirá um ganho de conhecimento em saúde.N/
Evaluation of total mercury content in fish and seafood available in Portuguese market
Get PDFIn Portugal, there is a tradition of high consumption of fish and seafood, higher than in the European Union (EU) countries, and above both EU and world averages. Although fish and seafood are important sources of high biological value proteins, omega 3 fatty acids and essential minerals, it can contain environmental contaminants, such as mercury compounds, which undergo bioaccumulation in the aquatic food chain. Long-lived predatory fish species, such as tuna or swordfish, are an important human exposure source.
Methylmercury, the most toxic mercury form, mainly targets the central nervous system. The most susceptible population to the toxic effects of methylmercury are pregnant women’s and children and the prenatal period represents a period of greatest vulnerability regarding neurodevelopmental effects on the fetus.
However, due to the fact that it is not possible to eliminate mercury from environment or fish, and that fish remains an important food in the Portuguese diet, recommendations for fish consumption for Portuguese population were prepared.
The aim of this research was to determine mercury contamination in fish and seafood available in Portuguese markets.
For this study, a total of 24 different species of fish and fishery and aquaculture products, representative of Portuguese consumption, were selected and acquired on the market during 2014 and 2015. Total mercury (THg) content was determined in the samples by thermal decomposition and amalgamation atomic absorption spectrophotometry (TDA/AAS), in compliance with ISO/IEC 17025.
All the analyzed samples have revealed THg levels above the limit of quantification of the method (LoQ = 1.1 µg/kg), but within the legislated limit. The values ranged between 4.2 µg/Kg (catfish)
and 574 µg/Kg (scabbard fish).
These results provide information regarding analytical data of chemical substances of interest and are a contribution to food risk assessment. It also reinforce the importance of disseminating the recommendations for fish consumption for the Portuguese population as a risk communication strategy, in order to either protect susceptible populations from exposure to this chemical, and simultaneously promoting the important health benefits associated with fish consumption.info:eu-repo/semantics/publishedVersio
From Stress to Sick(le) and Back Again–Oxidative/Antioxidant Mechanisms, Genetic Modulation, and Cerebrovascular Disease in Children with Sickle Cell Anemia
Get PDF(This article belongs to the Special Issue Genetics and Epigenetic Modifications on Metabolic Diseases Oxidative Related)Sickle cell anemia (SCA) is a genetic disease caused by the homozygosity of the HBB:c.20A>T
mutation, which results in the production of hemoglobin S (HbS). In hypoxic conditions, HbS suffers
autoxidation and polymerizes inside red blood cells, altering their morphology into a sickle shape,
with increased rigidity and fragility. This triggers complex pathophysiological mechanisms, including
inflammation, cell adhesion, oxidative stress, and vaso-occlusion, along with metabolic alterations
and endocrine complications. SCA is phenotypically heterogeneous due to the modulation of both
environmental and genetic factors. Pediatric cerebrovascular disease (CVD), namely ischemic stroke
and silent cerebral infarctions, is one of the most impactful manifestations. In this review, we highlight
the role of oxidative stress in the pathophysiology of pediatric CVD. Since oxidative stress is an interdependent mechanism in vasculopathy, occurring alongside (or as result of) endothelial dysfunction,
cell adhesion, inflammation, chronic hemolysis, ischemia-reperfusion injury, and vaso-occlusion, a
brief overview of the main mechanisms involved is included. Moreover, the genetic modulation of
CVD in SCA is discussed. The knowledge of the intricate network of altered mechanisms in SCA,
and how it is affected by different genetic factors, is fundamental for the identification of potential
therapeutic targets, drug development, and patient-specific treatment alternatives.info:eu-repo/semantics/publishedVersio