National Institute of Health Dr. Ricardo Jorge
Repositório Científico do Instituto Nacional de SaúdeNot a member yet
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Sustainable dietary choices: the contribution of the ALTERNATIVA project as a tool for selecting alternative protein sources
Get PDFO aumento da população humana e a consequente pressão exercida
pelos sistemas alimentares desafiam a saúde e o meio ambiente, cujo
impacto se reflete, entre outros, ao nível das alterações climáticas
associadas ao aquecimento global, exploração de recursos naturais e
da perda de biodiversidade. Entre os fatores que mais contribuem para
esse impacto está a produção de proteínas de origem animal, como a
carne vermelha e os lacticínios. Neste sentido, urge uma transformação dos sistemas alimentares, sendo que esta transformação deverá
ser sustentada numa avaliação dos impactos de fontes alternativas
de proteínas, quer na saúde quer na sustentabilidade. Este artigo tem
como principal objetivo discutir os desafios colocados aos sistemas alimentares e a necessidade de avaliar o impacto destes, à luz do projeto ALTERNATIVA (Alternative sources of protein in European diets –
integrating risk-benefit for health and sustainability) como uma ferra menta para o desenvolvimento sustentável nas diferentes vertentes –
ambiental, social e económica, através de uma metodologia que reúne
e combina conhecimentos em avaliação do risco-benefício (ARB) de
alimentos e a avaliação da sustentabilidade. A utilização de abordagens holísticas, como a que está a ser aplicada no projeto ALTERNATIVA
com o objetivo de fornecer ferramentas inovadoras para apoiar decisões sobre as futuras dietas, é fundamental para minimizar os efeitos
dos desafios atuais tentando garantir alimentos seguros, economicamente justos, acessíveis, dietas nutricionalmente adequadas e saudáveis com menores impactos ambientais.The growth of human population and the consequent pressure
exerted by food systems challenge health and the natural environment, whose impact is reflected, among others, in terms of contribu tion to climate change associated with global warming, exploitation
of natural resources and loss of biodiversity. Among the major contributors to this impact is the production of proteins of animal origin,
such as red meat and dairy. Therefore, the need of transforming food
systems is urgent and should be supported by assessing the overall health impact of alternative protein sources considering also sus tainability aspects. Our main objective is to discuss the challenges
posed to food systems and the need to assess their impact under the
umbrella of the ALTERNATIVA (Alternative sources of protein in Euro pean diets – integrating risk-benefit for health and sustainability)
as a tool for sustainable development in different aspects – health,
environmental, social and economic, through a methodology that
brings together and combines knowledge in risk-benefit assessment
(RBA) and sustainability assessment. The use of holistic approaches,
such as the one being applied in the ALTERNATIVA project aiming to
provide innovative tools to support decisions about the future diets,
is fundamental to minimize the effects of the current challenges trying to guarantee secure, economically fair, affordable, nutritionally
adequate and healthy diets having lower environmental impacts.Trabalho desenvolvido no âmbito do projeto ALTERNATIVA
(Alternative sources of protein in European diets – integra ting risk-benefit for health and sustainability) financiado pelas
EFSA Partnering Grants (Grant Agreement Number – GP/EFSA/ENCO/2020/03 – GA 2.info:eu-repo/semantics/publishedVersio
FAIR environmental and health registry (FAIREHR)- supporting the science to policy interface and life science research, development and innovation
Get PDFThe environmental impact on health is an inevitable by-product of human activity. Environmental health sciences is a multidisciplinary field addressing complex issues on how people are exposed to hazardous chemicals that can potentially affect adversely the health of present and future generations. Exposure sciences and environmental epidemiology are becoming increasingly data-driven and their efficiency and effectiveness can significantly improve by implementing the FAIR (findable, accessible, interoperable, reusable) principles for scientific data management and stewardship. This will enable data integration, interoperability and (re)use while also facilitating the use of new and powerful analytical tools such as artificial intelligence and machine learning in the benefit of public health policy, and research, development and innovation (RDI). Early research planning is critical to ensuring data is FAIR at the outset. This entails a well-informed and planned strategy concerning the identification of appropriate data and metadata to be gathered, along with established procedures for their collection, documentation, and management. Furthermore, suitable approaches must be implemented to evaluate and ensure the quality of the data. Therefore, the 'Europe Regional Chapter of the International Society of Exposure Science' (ISES Europe) human biomonitoring working group (ISES Europe HBM WG) proposes the development of a FAIR Environment and health registry (FAIREHR) (hereafter FAIREHR). FAIR Environment and health registry offers preregistration of studies on exposure sciences and environmental epidemiology using HBM (as a starting point) across all areas of environmental and occupational health globally. The registry is proposed to receive a dedicated web-based interface, to be electronically searchable and to be available to all relevant data providers, users and stakeholders. Planned Human biomonitoring studies would ideally be registered before formal recruitment of study participants. The resulting FAIREHR would contain public records of metadata such as study design, data management, an audit trail of major changes to planned methods, details of when the study will be completed, and links to resulting publications and data repositories when provided by the authors. The FAIREHR would function as an integrated platform designed to cater to the needs of scientists, companies, publishers, and policymakers by providing user-friendly features. The implementation of FAIREHR is expected to yield significant benefits in terms of enabling more effective utilization of human biomonitoring (HBM) data.PARC project (grant no. 101057014) funded under the European Union’s Horizon Europe Research and Innovation program.info:eu-repo/semantics/publishedVersio
The effect of TB patient delay on loss to follow-up in Portugal
No full textBACKGROUND: Early identification of TB cases, followed by treatment to completion, are essential for controlling and preventing the disease. Previous studies have found some factors associated with both loss to follow-up (LTFU) and patient delay. We aim to build a causal model to investigate the association between TB patient delay and LTFU.METHODS: Pulmonary TB cases were identified using the national surveillance system in Portugal between 2008 and 2017. A directed acyclic graph was used to identify the minimal set of variables to adjust for when studying the association between delay (exposure) and LTFU (outcome). Crude and adjusted hazard were estimated using Cox regression.RESULTS: Nearly 4% of the patients did not follow up treatment. There was no association between patient delay and LTFU, even after adjustment with the minimal set of covariates. Factors associated with a higher risk of LTFU were being younger, being unemployed, living in urban areas, having HIV and the abuse of alcohol and drugs.CONCLUSION: Patient delay was not associated with LTFU, while social conditions were. Future research should investigate the underlying reasons why patients discontinue TB treatment and use these findings to develop targeted interventions that can support patients in completing their treatment regimen.This work was supported by the Fundacão para a Ciência e a
Tecnologia (FCT; Lisbon, Portugal) (Grant: PTDC/SAU-PUB/31346/2017). The present publication was funded by Fundacão
Ciˆencia e Tecnologia, IP national support through CHRC (UIDP/04923/2020).info:eu-repo/semantics/publishedVersio
Genetic Characteristics of Latvian Patients with Familial Hypercholesterolemia: The First Analysis from Genome-Wide Sequencing
Get PDFThis article belongs to the Special Issue New Possibilities for the Treatment of DyslipidemiasBackground: There is limited data on the genetic characteristics of patients with familial
hypercholesterolemia (FH) in Latvia. We aim to describe monogenic variants in patients from the Latvian
Registry of FH (LRFH). Methods: Whole genome sequencing with 30 coverage was performed
in unrelated index cases from the LRFH and the Genome Database of Latvian Population. LDLR,
APOB, PCSK9, LDLRAP1, ABCG5, ABCG8, LIPA, LPA, CYP27A1, and APOE genes were analyzed.
Only variants annotated as pathogenic (P) or likely pathogenic (LP) using the FH Variant Curation
Expert Panel guidelines for LDLR and adaptations for APOB and PCSK9 were reported. Results:
Among 163 patients, the mean highest documented LDL-cholesterol level was 7.47 1.60 mmol/L,
and 79.1% of patients had LDL-cholesterol 6.50 mmol/L. A total of 15 P/LP variants were found
in 34 patients (diagnostic yield: 20.9%): 14 in the LDLR gene and 1 in the APOB gene. Additionally,
24, 54, and 13 VUS were detected in LDLR, APOB, and PCSK9, respectively. No P/LP variants were
identified in the other tested genes. Conclusions: Despite the high clinical likelihood of FH, confirmed
P/LP variants were detected in only 20.9% of patients in the Latvian cohort when assessed with
genome-wide next generation sequencing.This research is funded by the Latvian Council of Science, project “Low-coverage whole-genome sequencing analysis of polygenic mechanisms of high cholesterol levels in patients with
clinically diagnosed or possible familial hypercholesterolemia”, project No. lzp-2020/1-0151.info:eu-repo/semantics/publishedVersio
HBM4EU-MOM: Prenatal methylmercury-exposure control in five countries through suitable dietary advice for pregnancy – Study design and characteristics of participants
Get PDFBackground: Seafood is a major source of vital nutrients for optimal fetal growth, but at the same time is the main source of exposure to methylmercury (MeHg), an established neurodevelopmental toxicant. Pregnant women must be provided with dietary advice so as to include safely fish in their diet for nutrition and mercury control. The aim of this work is to present the design of a multicentre randomized control trial (RCT), which combines human biomonitoring (HBM) with dietary interventions using seafood consumption advice to pregnant women for MeHg control, and to collect information about other possible sources of exposure to mercury. It also presents the materials developed for the implementation of the study and the characteristics of the study participants, which were self-reported in the first trimester of pregnancy.
Methods: The "HBM4EU-MOM" RCT was performed in the frame of the European Human Biomonitoring Initiative (HBM4EU) in five coastal, high fish-consuming European countries (Cyprus, Greece, Spain, Portugal and Iceland). According to the study design, pregnant women (≥120/country, ≤20 weeks gestational age) provided a hair sample for total mercury assessment (THg) and personal information relevant to the study (e.g., lifestyle, pregnancy status, diet before and during the pregnancy, information on seafood and factors related to possible non-dietary exposures to mercury) during the first trimester of pregnancy. After sampling, participants were randomly assigned to "control" (habitual practices) or "intervention" (received the harmonized HBM4EU-MOM dietary advice for fish consumption during the pregnancy and were encouraged to follow it). Around child delivery, participants provided a second hair sample and completed another tailored questionnaire.
Results: A total of 654 women aged 18-45 years were recruited in 2021 in the five countries, primarily through their health-care providers. The pre-pregnancy BMI of the participants ranged from underweight to obese, but was on average within the healthy range. For 73% of the women, the pregnancy was planned. 26% of the women were active smokers before the pregnancy and 8% continued to smoke during the pregnancy, while 33% were passive smokers before pregnancy and 23% remained passively exposed during the pregnancy. 53% of the women self-reported making dietary changes for their pregnancy, with 74% of these women reporting making the changes upon learning of their pregnancy. Of the 43% who did not change their diet for the pregnancy, 74% reported that their diet was already balanced, 6% found it difficult to make changes and 2% were unsure of what changes to make. Seafood consumption did not change significantly before and during the first trimester of pregnancy (overall average ∼8 times per month), with the highest frequency reported in Portugal (≥15 times per month), followed by Spain (≥7 times per month). During the first-trimester of pregnancy, 89% of the Portuguese women, 85% of the Spanish women and 90%) were unaware of safe procedures for handling spillage from broken thermometers and energy-saving lamps, though >22% experienced such an incident (>1 year ago). 26% of the women had dental amalgams. ∼1% had amalgams placed and ∼2% had amalgams removed during peri-pregnancy. 28% had their hair dyed in the past 3 months and 40% had body tattoos. 8% engaged with gardening involving fertilizers/pesticides and 19% with hobbies involving paints/pigments/dyes.
Conclusions: The study design materials were fit for the purposes of harmonization and quality-assurance. The harmonized information collected from pregnant women suggests that it is important to raise the awareness of women of reproductive age and pregnant women about how to safely include fish in their diet and to empower them to make proper decisions for nutrition and control of MeHg, as well as other chemical exposures.We acknowledge funding for HBM4EU from the European Union’s
Horizon 2020 research and innovation program under grant agreement
#733032 and the national governments of the participating countries.
This publication reflects only the authors’ views, and the European
Commission is not responsible for any use that may be made of the in formation it contains.info:eu-repo/semantics/publishedVersio
Protecting Wildland Firefighters’ Health: saving the lives of those who fight to save us
No full textClimate change and global warming have contributed to the rise of forest fires across the globe. The proximity of firefighters to wildfires exposes them to a complex mixture of pollutants. In June 2022, occupational exposure as a firefighter was classified as “carcinogenic to humans” by the International Agency for Research on Cancer. However, up to date, very few studies have been focused on the relationship between wildland firefighting occupational exposure and health outcomes. Bio4Fox study aims to characterize wildland firefighters’ exposure in a pre- and during a wildfire season to identify a set of appropriate (bio)markers for the surveillance of wildland firefighters’ health. We aim to enroll around 200 northern Portuguese wildland firefighters. Here we present some preliminary data characterizing the exposure of these firefighters in the fire stations before the wildfire season.
Around 172 northern Portuguese wildland firefighters (141 males and 31 females; mean age of 37.5± 10.9) recruited before the wildfire season of 2021 were enrolled in this analysis. Information on sociodemographic data, lifestyle and occupational exposure was obtained via a comprehensive questionnaire. Genetic instability was assessed in buccal cells through the Buccal Mucosa Cytome (BMCyt) assay. Lower frequencies of micronuclei and pycnotic cells (cell death biomarker) were observed among firefighters taking vitamin supplements and consuming vegetables daily, respectively (p<0.05). Being part of Permanent Intervention Teams (full-time firefighters) or part of the Command team, contributed to higher frequencies of cells with condensed chromatin (cell death marker) and karyolitic cells, respectively (p<0.05). Our findings will furnish a better characterization of Portuguese wildland firefighters in a pre- wildfire season. We expect to contribute to the implementation of health and safety measures highly needed in this sector.N/
Portuguese Strategy for Genomic Medicine (PT_MedGen)
Get PDFAstrid Moura Vicente, Coordenadora da Comissão para o planeamento e implementação da Estratégia Nacional para a Medicina GenómicaA Medicina Genómica utiliza a informação contida no DNA de cada individuo para informar os seus cuidados
de saúde, contribuindo para diagnósticos mais precisos e atempados, para ajustar a terapêutica certa para
cada individuo e para estimar a sua predisposiçao a determinadas doenças, potenciando a sua prevenção.
É assim um componente-chave da Medicina Personalizada. (...)info:eu-repo/semantics/publishedVersio
Biochemical analysis of cerebrospinal fluid for the diagnosis of hereditary neurotransmitter diseases: case series and laboratory experience
Get PDFAs doenças genéticas relacionadas com o metabolismo dos neurotransmissores
são um grupo de doenças neurometabólicas em
expansão. Neste artigo fazemos a revisão da análise de biomarcadores
no líquido cefalorraquidiano (LCR) para o diagnóstico de Doenças
Hereditárias dos Neurotransmissores (DHN). Fez-se um levantamento
retrospetivo dos doentes submetidos a análise bioquímica
dos neurotransmissores (NT), por apresentarem suspeita de DHN,
com uma variabilidade de apresentações neurológicas e com idades
que variavam entre a idade neonatal, pediátrica e adulta. O estudo
foi efetuado no laboratório de Bioquímica Genética/Endocrinologia
Especial do Hospital Dona Estefânia (HDE), CHULC, Lisboa, num
período compreendido entre 2015-2021. Dos 277 casos levantados
107 (38,6%) apresentavam concentração de metabolitos dentro dos
valores de referência. Dos restantes 170 pacientes que apresentavam
alterações, três (1,08%) apresentaram um perfil bioquímico
compatível com défice primário dos NT, confirmado por diagnóstico
molecular; em 165 dos casos (59,6%) concluiu-se que a s alterações
dos metabolitos estavam relacionadas com alterações secundárias.
Os restantes dois casos (0,72%) correspondiam a distonias sensíveis
à dopa, e permaneceram sem confirmação molecular. Tentamos
explorar a correlação de alterações secundárias dos neurotransmissores
major com as manifestações clínicas. Com este trabalho preliminar
pretendemos divulgar e evidenciar a importância destes diagnósticos,
que permitem excluir alterações primárias de secundárias
e, ainda, partilhar a experiência e a casuística que servirá de base a
um futuro artigo de investigação mais completo.Genetic alterations related to neurotransmitter metabolism are an
expanding group of neurometabolic diseases. In this article, we
review the analysis of biomarkers in cerebrospinal fluids (CSF) for the
diagnosis of Hereditary Neurotransmitter Disorders (HND). A retrospective
survey was carried out on patients submitted to biochemical
analysis of neurotransmitters, due to suspicion of HDN, with
variable neurological presentations, and ages ranging from neonatal,
to pediatric and adult. The study was carried out at the Laboratory
of Biochemical Genetics/Special Endocrinology at the Hospital
Dona Estefania (HDE), Lisbon, between 2015-2021. Of the 277 cases
surveyed, 107 (38.6%) had concentrations of metabolites within the
reference values. Of the remaining 170 patients with alterations, 3
cases (1.08%) had a biochemical profile compatible with a primary
deficit with confirmed molecular diagnosis, 165 cases (59.6%) were
considered related to secondary alterations, and the remaining 2
cases (0.72%) corresponding to dopa-reponsive dystonias, remained
without molecular confirmation. We attempted to explore the correlation
of minor changes in major neurotransmitters with clinical
manifestations. With this preliminary article, we intend to disseminate
and highlight the importance of these diagnoses, which allow
excluding primary and secondary alterations, as well as to share the
experience and reasoning, serving as a b asis for ongoing research.info:eu-repo/semantics/publishedVersio
Reasons for non-adherence to taking the influenza vaccine in the 2020/2021 season in the Portuguese population aged 65 and over
Get PDFA vacinação antigripal sazonal (VAGS) constitui a principal medida de
saúde pública para a redução do número de infeções pelo vírus da
gripe e respetivas complicações. Anualmente, entre os grupos-alvo
definidos com recomendação para a toma da VAG inclui-se a população
com 65 e mais anos, para a qual a vacina é gratuita. Assim, é
importante identificar os aspetos mais relevantes no comportamento
de não adesão à toma desta vacina, para poder desenvolver campanhas
de vacinação mais efetivas. Neste estudo utilizou-se o Modelo
de Crenças em Saúde (MCS) e as suas cinco dimensões, para compreender
o processo de tomada de decisão no caso da não adesão à VAGS
na população portuguesa com 65 e mais anos na época 2020/2021.
Com base nos dados recolhidos através do painel de famílias ECOS
(Em Casa Observamos Saúde) constituído em 2018 e renovado parcialmente
em dezembro de 2020, utilizaram-se as respostas a uma pergunta
aberta sobre os motivos para não ter tomado a VAG na época
de 2020/2021. As respostas obtidas foram organizadas em categorias
através de análise de conteúdo temática e calculou-se a frequência
dos diferentes motivos expressos pelos entrevistados de acordo com
as dimensões do MCS: suscetibilidade, gravidade, barreiras, benefícios
e pistas para a ação. Estimou-se, para população com 65 ou mais
anos, na época em estudo, uma f requência de não adesão à VAGS de
33,8%. As dimensões barreiras e suscetibilidade percebidas foram as
dimensões mais evocadas para a não toma da VAGS, especificamente
através da perceção de efeitos adversos que podem advir da toma da
vacina e da pouca suscetibilidade a contrair a doença. Estes resultados
sugerem possíveis lacunas no conhecimento que a população tem
acerca da vacina e da d oença.The seasonal influenza vaccine (IV) is the leading public health tool
to reduce the number of influenza virus infections and cases of severe
disease. Annually, among the target groups usually included for
the immunisation against seasonal influenza, there are the adults
aged 65 and older that are offered a free of charge IV. To develop
effective vaccination campaigns it is important understand the most
important issues in the non-uptake behaviour. Using the Health Belief
Model (HBM) five dimensions as conceptual framework, this
study focuses on the decision-making process to IV non-adherence
by Portuguese adults aged 65 or older. Based on the data collected
from the ECOS panel (At Home we Observe Health [Em Casa Observamos
Saúde]) constituted in 2018 and partially renovated in 2020,
we used responses to an open question about the reasons for not
taking VAG in the 2020/2021. Through thematic content analysis, the
responses were organized into categories and we estimated the reasons
frequency, according to HBM dimensions: susceptibility, severity,
barriers, benefits and clues for action. The population aged 65
years and older frequency of non-adherence to VAG was estimated
at 33.8%. The perceived barriers and susceptibility dimensions were
the most frequent dimensions for not taking IV, particularly by perception
of adverse effects from the vaccine uptake and the low susceptibility
to contracting the disease. These results suggest possible
gaps in the knowledge that the population has about the vaccine
and the disease.info:eu-repo/semantics/publishedVersio