National Institute of Health Dr. Ricardo Jorge
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Afinal, é ou não seguro consumir regularmente pescado?
Get PDFConsumo de pescado em Portugal, Riscos e beneficios do consumo de pescado, Metilmercúrio (MeHg), População mais suscetível ao MeHg, Avaliação da exposição ao MeHg, Recomendações para o consumo de pescado.N/
Optimal heat stress metric for modelling heat‐related mortality varies from country to country
Get PDFCombined heat and humidity is frequently described as the main driver of human heat-related mortality, more so than dry-bulb temperature alone. While based on physiological thinking, this assumption has not been robustly supported by epidemiological evidence. By performing the first systematic comparison of eight heat stress metrics (i.e., temperature combined with humidity and other climate variables) with warm-season mortality, in 604 locations over 39 countries, we find that the optimal metric for modelling mortality varies from country to country. Temperature metrics with no or little humidity modification associates best with mortality in ~40% of the studied countries. Apparent temperature (combined temperature, humidity and wind speed) dominates in another 40% of countries. There is no obvious climate grouping in these results. We recommend, where possible, that researchers use the optimal metric for each country. However, dry-bulb temperature performs similarly to humidity-based heat stress metrics in estimating heat-related mortality in present-day climate.Y. T. Eunice Lo was funded by the Natural Environment
Research Council UK (NERC) project, HAPPI Health
(Grant ID: NE/R009554/1). Dann M. Mitchell was supported by the NERC Independent Research Fellowship
(Grant ID: NE/N014057/1). Malcolm N. Mistry was sup ported by the European Commission (H2020-MSCA-IF2020) under REA grant agreement no. 101022870. Jan
Kyselý and Ales Urban are supported by the Czech Science ˇ
Foundation (Grant ID: GA22-24920S). Antonio Gasparrini
is supported by Medical Research Council UK (Grant IDs:
MR/V034162/1 and MR/R013349/1), NERC (Grant ID:
NE/R009384/1), European Union's Horizon 2020 Project
Exhaustion (Grant ID: 820655) and European Union's Joint
Research Center (Grant ID: JRC/SVQ/2020/MVP/1654).info:eu-repo/semantics/publishedVersio
Rare primary dyslipidaemias associated with low LDL and HDL cholesterol values in Portugal
Get PDFDyslipidaemia represents a group of disorders of lipid metabolism, characterized by either an increase or decrease in lipid particles, usually associated with triglycerides, LDL cholesterol (LDL-C) and/or HDL cholesterol (HDL-C). Most hyperlipidaemias and HDL deficiencies confer an increased cardiovascular risk, while hypolipidaemia, such as abeta or hypobetalipoproteinemia, may present different manifestations ranging from poor weight progression to neurological manifestations. The aim of this study is to present 7 cases with rare dyslipidaemias associated with low LDL or low HDL cholesterol values, referred to our laboratory for the genetic identification of the cause of the dyslipidaemia.
Lipid profile was determined for each individual in an automated equipment Integra Cobas (Roche). Molecular analysis was performed by NGS with a target panel of 57 genes involved in lipid metabolism (Sure select QXT, Agilent) and samples were run in a NextSEQ Sequencer (Illumina). Only genes associated to rare forms of low HDL-c or LDL-c were analysed for this work, namely: ABCA1, APOA1, LCAT, SCARB1, APOB, PCSK9, MTTP, SAR1B, and ANGPTL3. All rare variants (MAF<5%) found in these genes were confirmed by Sanger sequencing.
This study includes 7 index cases (IC), with the following clinical diagnoses: Fish Eye Disease (1), Hypoalphalipoproteinemia (1) and Abetalipoproteinemia (ABL) / Familial Hypobetalipoproteinemia (FHBL) (5). We have identified one IC with a compound heterozygosity in LCAT causing Fish Eye Disease and one IC with a variant in ABCA1 in homozygosity causing Tangier disease. We found variants causing homozygous FHBL in 2 IC, one of whom has an undescribed pathogenic variant in homozygosity in APOB (c.12087+1G>A) and the other is a possible compound heterozygous for APOB variants c.2604+1G>A and c.4651C>T/p.(Gln1551*). In two patients only a variant in heterozygosity (c.3365delG/p.(Gly1122Vfs*62) and c.11095A>T/p.(Arg3699*)). In the remaining patient, no variants were identified. NGS proved to be a fundamental key for genetic testing of rare lipid disorders, allowing us to find the genetic cause of disease in 6/7 patients with low HDL-c and LDL-c. Patients with these rare conditions should be identified as early as possible in order to minimize or prevent clinical manifestations. The unsolved case is still under investigation.info:eu-repo/semantics/publishedVersio
Characterization of Haemophilus influenzae non-invasive disease in children, in Portugal: 2015-2022
No full textBackground: Haemophilus influenzae is a Gram-negative bacterium that colonizes the human upper
respiratory tract, where it can remain asymptomatic. It can also progress from colonizer to pathogen and cause acute mucosal infections, such as otitis and conjunctivitis, particularly in children. These infections are frequently associated to NTHi H. influenzae. Empirical treatment with antibiotics is of concern due to possible emergence and dissemina-tion of resistant strains.
Aims / Methods: We aim to characterize H. influenzae isolates from two epidemiologically relevant non-invasive diseases, otitis media and conjunctivitis, in Portugal, from 2015 to 2022 and compare this data with results from invasive disease.
From January 2015 to December 2022, 134 H. influenzae isolates (78-ear-swab; 56-eye-swab) were collected in the National Reference Laboratory for Haemophilus influenzae, based at the NIH, in Lisbon. Most isolates were from children (99.5%; 132/134).
Capsular status was characterized by conventional PCR. Beta-lactamase producers were identified with nitrocefin. Antimicrobial susceptibility was determined by microdilution, according to EUCAST guidelines, for several antibiotics of interest. Genetic diversity was studied by MLST and ST assigned in PubMLST (https://pubmlst.org/organisms/haemophilus-influenzae/).
Results: Among 134 H. influenzae isolates, 99.3% were NTHi (133/134), whereas only one encapsulated isolate was found, and characterized as Hia (0.8%, 1/134). Beta- lactamase producers accounted for 6.7% (9/134). Antibiotic susceptibility results (n=113) showed that most isolates were susceptible to the antibiotics tested, with the exception of 34.5% resistance to trimethoprim-sulfamethoxazole (39/113). In the course of this study, we highlight the characterization of a beta-lactamase negative, NTHi isolate, resistant to ampicillin, cefotaxime, cefuroxime, amoxicillin-clavulanic acid, cefepime, and trimethoprim/sulfamethoxazole. This is the first time that we characterized resistance to cefotaxime in H. influenzae, in our country. The isolate, from a 67 years old man with multi-microorganisms corneal ulcer, was characterized as BLNAR group III-like, ST3 (confirmed by WGS).
High genetic diversity was observed among NTHi, as expected, with 22 different STs assigned for 31 isolates (71% 22/31), although ST12 and ST34 included three isolates each. When comparing the MLSTs results of isolates from both invasive and non-invasive diseases, we observed that 41% (9/22) of the STs were shared among both diseases: ST-12, ST-34, ST-142, ST-160, ST-262, ST-367, ST-396, ST-1034, and ST-1411.N/
YES1 Kinase Mediates the Membrane Removal of Rescued F508del-CFTR in Airway Cells by Promoting MAPK Pathway Activation via SHC1
Get PDF(This article belongs to the Section Molecular Biology)Recent developments in CFTR modulator drugs have had a significant transformational
effect on the treatment of individuals with Cystic Fibrosis (CF) who carry the most frequent F508del-
CFTR mutation in at least one allele. However, the clinical effects of these revolutionary drugs remain
limited by their inability to fully restore the plasma membrane (PM) stability of the rescued mutant
channels. Here, we shed new light on the molecular mechanisms behind the reduced half-life of
rescued F508del-CFTR at the PM of airway cells. We describe that YES1 protein kinase is enriched in
F508del-CFTR protein PM complexes, and that its interaction with rescued channels is mediated and
dependent on the adaptor protein YAP1. Moreover, we show that interference with this complex,
either by depletion of one of these components or inhibiting YES1 activity, is sufficient to significantly
improve the abundance and stability of modulator-rescued F508del-CFTR at the surface of airway
cells. In addition, we found that this effect was mediated by a decreased phosphorylation of the
scaffold protein SHC1, a key regulator of MAPK pathway activity. In fact, we showed that depletion
of SHC1 or inhibition of MAPK pathway signaling was sufficient to improve rescued F508del-CFTR
surface levels, whereas an ectopic increase in pathway activation downstream of SHC1, through the
use of a constitutively active H-RAS protein, abrogated the stabilizing effect of YES1 inhibition on
rescued F508del-CFTR. Taken together, our findings not only provide new mechanistic insights into
the regulation of modulator-rescued F508del-CFTR membrane stability, but also open exciting new
avenues to be further explored in CF research and treatment.Funding: This work was supported by the Grant PTDC/BIA-CEL/28408/2017 (to PJ and PM) and Center Grant UID/MULTI/04046/2019 to BioISI from the Portuguese Fundação para a Ciência e a Tecnologia.info:eu-repo/semantics/publishedVersio
Estudo de Prevalência de Insuficiência Cardíaca em Portugal (PORTHOS), fundamentação e conceção – um estudo populacional
No full textArticle in English, PortugueseObservational StudyIntroduction and objectives:
Current epidemiological data on heart failure (HF) in Portugal derives from studies conducted two decades ago. The main aim of this study is to determine HF prevalence in the Portuguese population. Using current standards, this manuscript aims to describe the methodology and research protocol applied.
Methods:
The Portuguese Heart Failure Prevalence Observational Study (PORTHOS) is a large, three-stage, population-based, nationwide, cross-sectional study. Community-dwelling citizens aged 50 years and older will be randomly selected via stratified multistage sampling. Eligible participants will be invited to attend a screening visit at a mobile clinic for HF symptom assessment, anthropomorphic assessment, N-terminal pro-B-type natriuretic peptide (NT-proBNP) testing, one-lead electrocardiogram (ECG) and a sociodemographic and health-related quality of life questionnaire (EQ-5D). All subjects with NT-proBNP ≥125 pg/mL or with a prior history of HF will undergo a diagnostic confirmatory assessment at the mobile clinic composed of a 12-lead ECG, comprehensive echocardiography, HF questionnaire (KCCQ) and blood sampling. To validate the screening procedure, a control group will undergo the same diagnostic assessment. Echocardiography results will be centrally validated, and HF diagnosis will be established according to the European Society of Cardiology HF guidelines. A random subsample of patients with an equivocal HF with preserved ejection fraction diagnosis based on the application of the Heart Failure Association preserved ejection fraction diagnostic algorithm will be invited to undergo an exercise echocardiography.
Conclusions:
Through the application of current standards, appropriate methodologies, and a strong research protocol, the PORTHOS study will determine the prevalence of HF in mainland Portugal and enable a comprehensive characterization of HF patients, leading to a better understanding of their clinical profile and health-related quality of life.Introdução e objetivos:
Os dados epidemiológicos atuais sobre insuficiência cardíaca (IC) em Portugal provêm de estudos realizados há mais de duas décadas. O objetivo principal deste estudo é determinar a prevalência da síndrome de IC na população portuguesa com 50 ou mais anos, sendo, especificamente, objetivo deste artigo descrever as abordagens metodológicas e o protocolo de investigação aplicados.
Métodos:
O Estudo de Prevalência de Insuficiência Cardíaca em Portugal (PORTHOS) é um estudo observacional transversal de grande dimensão, de base populacional, nacional, constituído por três fases. Serão selecionados aleatoriamente por amostragem estratificada multietapas cidadãos com 50 ou mais anos residentes na comunidade em Portugal. Os participantes elegíveis serão convidados a participar numa visita de triagem, que decorrerá numa clínica móvel, durante a qual serão submetidos a avaliação de sintomas de IC, avaliação antropomórfica, um teste de N-terminal pró-peptídeo natriurético tipo B (NT-proBNP), eletrocardiograma de 1 derivação, questionários sociodemográficos e questionário de qualidade de vida relacionada à saúde (EQ-5D). Todos os participantes com NT-proBNP ≥125 pg/mL ou história prévia de IC serão submetidos a uma avaliação diagnóstica confirmatória composta por eletrocardiograma de 12 derivações, ecocardiografia completa, questionário de IC (KCCQ) e colheita de sangue. Para validar o procedimento de triagem, um grupo controlo passará pela mesma avaliação diagnóstica. Os resultados dos ecocardiogramas realizados serão validados centralmente e o diagnóstico de IC será confirmado de acordo com as recomendações de IC da Sociedade Europeia de Cardiologia. Uma subamostra aleatória de participantes com diagnóstico questionável de IC com fração de ejeção preservada (ICFEp), após a aplicação do algoritmo de diagnóstico de fração de ejeção preservada da Heart Failure Association (HFA-PEFF) será convidada a realizar ecocardiografia de esforço.
Conclusão:
Através da aplicação das recomendações atuais e abordagens metodológicas adequadas, o estudo PORTHOS irá determinar a prevalência da IC em Portugal Continental e permitir uma caracterização abrangente dos doentes com IC, para melhor compreensão do seu perfil clínico e qualidade de vida relacionada com a saúde.info:eu-repo/semantics/publishedVersio
Plant-based foods on the Portuguese market: a salutary alternative to animal-origin counterparts?
Get PDFThe consumption of animal-origin products (AOP) has been linked to an increased risk of heart disease, diabetes and cancer and significant environmental issues. The growing interest for plant-based foods (PBF) have been raising important questions about their overall healthiness.
In this context, this study aims to assess the nutritional quality of PBF available in the Portuguese market, analyzing their nutrient profiles and comparing them with AOP and nutrient reference values established. Evaluating if PBF are a salutary viable alternative, we expect to contribute to the promotion of healthier and more sustainable food choices and help inform public health policies.
Collection and comparison of the nutritional information of PB burgers, sausages and breaded food products and their AOP equivalents and with the reference values of the Integrated Strategy for the Promotion of Healthy Eating (EIPAS) and of the Directorate-General of Health Label Decoder.
A cross-sectional survey of nutrients was conducted on 207 PBF and 253 AOP equivalents. When compared, all PBF categories had higher energy, carbohydrate and sugars. The PB burgers had lower levels of fat, saturates and protein but higher salt content. The PB sausages had lower levels of saturates and salt but higher fat and protein contents. The PB breaded food products had higher levels of fat, saturates, protein and salt. When jointly evaluated sugars and salt, 99.5% of all PBF did not meet EIPAS reference values.
The nutritional composition of the PBF studied vary widely. Although some presented lower saturates levels others had higher fat, sugars and salt compared to AOP, with 99.5% not meeting EIPAS sugars and salt reference values. In this context, public health actions to address the nutritional quality of PBF, normally perceived as healthier, are needed, namely food literacy initiatives and legislative measures concerning the labeling and reformulation of PBF products.info:eu-repo/semantics/publishedVersio
Occurrence of contaminants and food additives in the Portuguese food chain: data collection and transmission of official control samples to EFSA from 2017 to 2023
Get PDFIntroduction: The collection of accurate, reliable and comparable data on food and feed is essential to monitor their safety and to support informed dietary exposure and risk assessments and management, contributing to higher consumer safety and health.
The National Institute of Health Doutor Ricardo Jorge (INSA) is responsible for gathering, harmonising and electronically submitting to the European Food Safety Authority (EFSA), according to their reporting requirements, the information on food and feed contaminants and food additives from the official control plans in Portugal and from studies performed in INSA laboratories. We aim to present the process of data collection and transmission to EFSA and the main results during the period 2017-2023 (samples collected in 2016-2022).
Methodology: Annually, INSA gathers information on contaminants and additives from the official control plans of the Portuguese authorities and from INSA studies. This information was reported according to the EFSA Standard Sample Description for Food and Feed (SSD2), complemented by FoodEx2, a standardised system for classifying and describing food, to ensure data harmonisation, standardisation and quality. It were used EFSA’s Excel Tools and Catalogue Browser to facilitate the process.
Results: Between 2017 and 2023, 62963 analytical results were gathered and transmitted to EFSA according to SSD2, almost entirely on contaminants (61054). These results correspond to 12214 food samples collected. During this period, of all the reported results evaluated (59021) only 0.2% (129) were non-compliant (6.3% (3942) were not evaluated because they corresponded to studies). Animal feed data were reported in 2023 but can only be accounted for next month.
Conclusions: The use of the SSD2 and FoodEx2 data model and system and all other tools made available by EFSA ensure data harmonisation, standardisation, and overall quality, consistency, and reliability in the information reported.
During the period under review, there was a high level of compliance (99.8%) in the results of samples collected under the Portuguese official control plans.info:eu-repo/semantics/publishedVersio
Public health capacity and the challenges for pandemic response preparedness
Get PDFA pandemia da COVID-19 expôs a magnitude da ameaça que representam os surtos de doenças transmissíveis e a importância da força de trabalho da saúde pública na resposta adequada a esses surtos. Neste contexto, o objetivo deste trabalho foi identificar artigos de inves- tigação publicados sobre ferramentas desenvolvidas para identificar a capacidade ou competências de preparação para pandemias com foco na força de trabalho de institutos e agências de saúde pública. Para o efeito, realizámos pesquisas em diversas bases de dados da área da medicina utilizando palavras de texto livre durante o mês de janeiro de 2023. A pesquisa foi realizada utilizando palavras relacionadas com a força de trabalho ou recursos humanos, capacidades, competências, preparação ou resposta, saúde pública ou pandemias ou surtos de doenças, ferramentas, padrões, modelos ou estruturas, relacionadas com institutos ou agências de saúde pública, infraestruturas ou estratégias em vários níveis de governação. Palavras paralelas foram combinadas com o operador booleano “OR” e grupos adjacentes de pa- lavras paralelas foram combinados com um operador de proximidade. As estratégias de pesquisa consistiram em 3 a 5 conjuntos de palavras por pesquisa, os quais foram combinados com o operador restritivo “AND”. Os resultados foram refinados temporalmente (2009-2023), por países/regiões (países europeus, Austrália, Nova Zelândia, Canadá e EUA) e por idioma (Inglês). Como resultado, foram resgatados 883 artigos. Destes, foram identificados 11 duplicados, os quais foram retirados de nossa análise. Dos 872 artigos restantes, 13 foram incluídos e 859 foram excluídos por não cumprirem os critérios de inclusão definidos. A análise preliminar relativa à pesquisa bibliográfica identificou 10 artigos de investigação publicados entre 2009 e 2022 sobre ferramentas desenvolvidas para avaliar a capacidade ou competências de preparação para pandemias. Referem-se principalmente ao desenvolvimento de novas ferramentas de avaliação, à aplicação de ferramentas existentes para identificar áreas de melhoria na preparação organizacional ou dos seus colaboradores, ou à avaliação de capacidades específicas, à avaliação das métricas para medir a eficiência e eficácia e à determinação da validade, fiabilidade e interpretabilidade das ferramentas existentes.The COVID-19 pandemic has exposed the magnitude of the threat posed by communicable disease outbreaks and the importance of the public health workforce in adequately responding to such outbreaks. In this context, our aim was to identify published research articles concerning tools developed to identify pandemic preparedness capacity or competency, focusing on the workforce of public health institutes and agencies. For this purpose, we conducted searches in several medicine-related databases by using free text words during January 2023. The search was performed using words related to workforce or human resources, capacities, competencies, preparedness or response, public health or pandemics or disease outbreaks, tools, standards, models or frameworks, to public health institutes or agencies, infrastructure or strategies on various levels of governance. Parallel words were combined with Boolean operator “OR” and adjacent groups of parallel words were combined with a proximity operator. Search strategies con- sisted of 3-5 search sets, which were combined with restrictive operator “AND”. The results were refined by years (2009-2023), countries/regions (European countries, Australia, New Zealand, Canada and USA) and language (English). As a result, 883 references were retrieved. From these, we identified 11 duplicates, which were removed from our analysis. From the remaining 872 papers, 13 were included and 859 were excluded because they didn’t meet the defined inclusion criteria. The preliminary analysis regarding the database literature search, identified 10 research papers published between 2009 and 2022 concer- ning tools developed to identify pandemic preparedness capacity or competency. These refer mainly to the development of new assessment tools, application of existing tools to identify areas for improvement in organizational or staff readiness or assessment of specific capacities, evaluating the metrics for measuring efficiency and effectiveness and determining validity, reliability, and interpretability of existing tools.info:eu-repo/semantics/publishedVersio
Boletim Epidemiológico Observações: Vol. 15 (2023), Número Especial 15, One Health
No full textNúmero Especial do Boletim Epidemiológico Observações, dedicado à abordagem One Health na Saúde Pública. Observações é uma publicação científica do INSA, IP, que visa contribuir para o conhecimento da saúde da população, os fatores que a influenciam, a decisão e a intervenção em Saúde Pública, assim como a avaliação do seu impacte na população portuguesa. Através do acesso público e gratuito a resultados científicos gerados por atividades de observação em saúde, monitorização e vigilância epidemiológica nas áreas de atuação do Instituto - Alimentação e Nutrição, Doenças Infeciosas, Genética Humana, Saúde Ambiental, Promoção da Saúde e Prevenção de Doenças Não Transmissíveis, Epidemiologia, Investigação em Serviços e Políticas de Saúde - é dada especial atenção à disseminação rápida de informação relevante para a resposta a temas de relevo para a saúde da população portuguesa, tendo como principal alvo todos os profissionais, investigadores e decisores intervenientes na área da Saúde Pública em Portugal.info:eu-repo/semantics/publishedVersio