National Institute of Health Dr. Ricardo Jorge
Repositório Científico do Instituto Nacional de SaúdeNot a member yet
9086 research outputs found
Sort by
Key issues for implementation of genomic medicine into healthcare: recommendations from Country Exchange Visits to the United Kingdom, Estonia and Finland
Get PDFPara que todos os cidadãos europeus possam vir a beneficiar da medi cina genómica de forma equitativa, é essencial colmatar as assime trias existentes na Europa na implementação das análises genómicas
nos cuidados de saúde. Promover o diálogo e a cooperação entre
países, contribuindo para a sua capacitação e partilha de boas práticas, é essencial para o avanço da medicina genómica a nível nacional e europeu. Nesse sentido, o projeto Beyond 1 Million Genomes
(B1MG) organizou três Country Exchange Visits (CEVs) a países europeus com estratégias genómicas avançadas, nomeadamente o Reino
Unido, a Estónia e a Finlândia. Estas visitas promoveram uma discus são aberta sobre os pontos-chave para a implementação sustentável
da medicina genómica nos serviços de saúde. Profissionais de saúde
e investigadores dos países signatários da iniciativa europeia de 1
Milhão de Genomas (1+MG) participaram nesses eventos, alguns dos
quais apresentaram as respetivas iniciativas nacionais para a medi cina genómica. Com base nas boas práticas apresentadas, e em exemplos reais dos países anfitriões, foram propostas recomendações em
áreas essenciais à implementação sustentável da medicina genómica
nos sistemas de saúde europeus, nomeadamente: (i) o envolvimento
dos cidadãos e dos doentes; (ii) o investimento em infraestruturas e
a regulamentação na prática clínica; (iii) a formação e capacitação de
profissionais de saúde; (iv) a construção de um ecossistema sustentável baseado em sinergias entre sistemas de saúde, investigação e
indústria.For genomic medicine to become accessible to all European citi zens, it is essential to bridge the current gaps across European countries regarding the maturity of genomics use in health care. Promoting dialogue and cooperation between countries, contributing to
capacity building and sharing best practices is thus essential for the
advancement of genomic medicine at national and European levels.
The Beyond 1 Million Genomes (B1MG) project is a Coordination and
Support Action funded by the European Commission, to assist the 1+ Million Genomes Initiative. The 1+MG Initiative engages 26 European countries in the development of a framework for genomic and
health data access across borders, to facilitate research and perso nalised medicine in Europe. To improve cooperation across European
health systems, the B1MG project organized three Country Exchange
Visits (CEVs) to countries with well advanced genomic strategies,
namely the United Kingdom, Estonia and Finland, to discuss the critical factors for the sustainable implementation of national strategies for genomic medicine. Researchers and health professionals
involved in the 1+MG Initiative participated in these events, and 13
countries presented the status of their genomic medicine strategies.
Based on the presentations and discussions, a set of recommendations for the successful implementation of genomic medicine in
European health systems were proposed in four key areas: patient
and citizen engagement; infrastructure and regulation for implementation of genomics into clinical practice; workforce education
and training; and building a sustainable ecosystem based on synergies between clinical practice, research and industryinfo:eu-repo/semantics/publishedVersio
Results of the Portuguese EQA program for molecular detection of SARS-CoV-2, 2020-2022
Get PDFThe initial strategy for containing the spread of SARS CoV 2 was the prompt identification of COVID 19 cases. National Reference laboratory implemented the biomolecular assays to detect SARS-CoV-2.
In June 2020 the Portuguese National External Quality Assessment Program (PNAEQ) in collaboration with National Reference Laboratory for Influenza and Other Respiratory Viruses (NRL) organized the first National External Quality Assessment Program (EQA) for detection of SARS CoV 2 virus by molecular methods. The majority of the rounds included extra analytical questions The aim of EQA programs is to evaluate the participant’s performance and also estimate the overall detection rate of multiple national laboratories. We aimed to evaluate the results of implementation of a national external quality assessment program for the molecular detection of SARS-CoV-2 virus during 2020-2022.info:eu-repo/semantics/publishedVersio
Health promotion and disease prevention registries in the EU: a cross country comparison
Get PDFBackground: Health promotion and disease prevention programme registries (HPPRs), also called 'best practice portals', serve as entry points and practical repositories that provide decision-makers with easy access to (evidence-based) practices. However, there is limited knowledge of differences or overlaps of howe current national HPPRs in Europe function, the context and circumstances in which these HPPRs were developed, and the mechanisms utilised by each HPPR for the assessment, classification and quality improvement of the included practices. This study prepared an overview of different approaches in several national HPPRs and the EU Best Practice Portal (EU BPP) as well as identified commonalities and differences among the core characteristics of the HPPRs.
Methods: We conducted a descriptive comparison - that focused on six European countries with existing or recently developed/implemented national HPPR and the EU BPP -to create a comparative overview. We used coding mechanisms to identify commonalities and differences; we performed data management, collection and building consensus during EuroHealthNet Thematic Working Group meetings.
Results: All HPPRs offer a broad range of health promotion and disease-prevention practices and serve to support practitioners, policymakers and researchers in selecting practices. Almost all HPPRs have an assessment process in place or planned, requiring the application of assessment criteria that differ among the HPPRs. While all HPPRs collect and share recommendable practices, others have implemented further measures to improve the quality of the submitted practices. Different dissemination tools and strategies are employed to promote the use of the HPPRs, including social media, newsletters and publications as well as capacity building workshops for practice owners or technical options to connect citizens/patients with local practices.
Conclusions: Collaboration between HPPRs (at national and EU level) is appreciated, especially regarding the use consistent terminology to avoid misinterpretation, facilitate cross-country comparison and enable discussions on the adaption of assessment criteria by national HPPRs. Greater efforts are needed to promote the actual implementation and transfer of practices at the national level to address public health challenges with proven and effective practices.info:eu-repo/semantics/publishedVersio
Alimentos prontos para consumo no mercado português - Teores de sal e açúcar em 2023
Get PDFÉ reconhecida a associação entre o consumo excessivo de açúcar e de sal e o desenvolvimento de doenças crónicas não transmissíveis, como a obesidade, diabetes e doenças cardiovasculares, sendo a primeira causa de morte e de morbilidade em Portugal.
Assim, foi criada em 2017, em Portugal, a Estratégia Integrada para a Promoção da Alimentação Saudável (EIPAS). Uma das suas metas é o incentivo à reformulação dos alimentos, com vista à redução progressiva do consumo de açúcar e de sal pela população.
Estabelece teores máximos de referência para alimentos: de sal, 0,2 g/100 g para sopas e pratos principais e de açúcar de 5 g/100 g para alimentos sólidos. O Instituto Nacional de Saúde Doutor Ricardo Jorge, no âmbito da sua missão monitoriza os dados relativos à composição nutricional dos alimentos disponíveis no mercado português.
Os dados sobre os teores de sal e de açúcar, de sopas e refeições prontas para consumo, foram recolhidos durante o ano de 2023, nas plataformas de venda online das principais cadeias de distribuição em Portugal. Foram considerados: pratos de cozinha tradicional, massas e pizzas, refeições vegetarianas e refeições veganas.
As medianas dos teores de sal foram: 0,9 g/100 g nos pratos de cozinha tradicional (74); 0,9 g/100 g nos pratos de massas (63); 1,2 g/100 g nas pizzas (98); 1,2 g/100 g nas refeições vegetarianas (42); 1,0 g/100 g nas refeições veganas (56). Todas as 333 refeições apresentaram valores de sal superiores à recomendação da EIPAS. A mediana do teor de sal nas sopas foi de 0,5 g/100 g. Das 50 sopas apenas uma continha 0,2 g/100 g, pelo que 98% registaram teores de sal superiores às recomendações da EIPAS.
As medianas dos teores de açúcar foram de: 1,4 g/100 g nos pratos de cozinha tradicional; 2,7 g/100 g nos pratos de massas; 3,3 g/100 g nas pizzas; 2,2 g/100 g nas refeições vegetarianas; 1,2 g/100 g nas refeições veganas e de 1,4 g/100 g nas sopas.
Observaram-se valores superiores a 5 g/100 g de açúcar em 9,5% dos pratos de massa, 5,1% das pizzas, 7% das refeições vegetarianas e 3,5% das refeições veganas. No caso dos pratos de cozinha tradicional e sopas não houve registos superiores a 5 g/100 g de açúcar.
É importante continuar o trabalho de incentivo aos produtores no que toca à redução de sal e açúcar nos alimentos. O açúcar poderá ser proveniente de concentrado de tomate, leites e queijo, pois não aparece na lista de ingredientes na maior parte dos pratos com valores acima das 5 g/100 g de açúcar.info:eu-repo/semantics/publishedVersio
Mycobacterium caprae: a disregarded zoonotic agent of human tuberculosis
Get PDFA Organização Mundial de Saúde define tuberculose zoonótica como a forma de tuberculose no Homem causada predominantemente por M. bovis, um membro do Complexo Mycobacterium tuberculosis. Contudo, outros membros daquele complexo, como M. caprae, apresentam tam- bém potencial zoonótico. Este trabalho incide sobre a tuberculose zoonótica por infeção Mycobacterium caprae na Europa e em Portugal, entre 2017 e 2023, com base em revisão preliminar da literatura. Embora a in- cidência global daquela infeção seja baixa, em certos países europeus, como Alemanha, Áustria, Espanha e França, apresenta maior relevância. Em Portugal, estão identificados casos em bovinos e caprinos. Contudo, ao contrário dos bovinos, os caprinos apenas são testados quando em coabitação com bovinos infetados, pelo que apenas nesta situação, ou após achado de lesões suspeitas na inspeção sanitária ao abate, esta in- feção naquela espécie é diagnosticada. No setor da saúde pública, após obtenção de resultado positivo para o Complexo Mycobacterium tuber- culosis, a identificação ao nível de espécie é feita apenas em situações particulares, pelo que poderá existir uma situação de subdiagnóstico. A propagação da doença ocorre na interface Homem-Animal-Ambien- te, envolvendo fatores como contaminação ambiental, circulação de M. caprae em pequenos ruminantes e espécies selvagens, e vias de trans- missão para os humanos, nomeadamente o consumo de produtos con- taminados e a exposição direta a animais infetados. Enfatiza-se assim a necessidade de uma abordagem One Health para monitorizar e pre- venir eficazmente a tuberculose zoonótica, sugerindo-se a criação de um grupo de trabalho One Health, o desenvolvimento de políticas de prevenção e vigilância intersetoriais, a análise genómica sistemática dos casos de tuberculose humana e de animais epidemiologicamen- te relacionados, e a sensibilização das populações com maior risco.The World Health Organization defines zoonotic tuberculosis as a form of tuberculosis in humans caused predominantly by M. bovis, a member of the Mycobacterium tuberculosis Complex. However, other members of the complex, such as M. caprae, also have zoonotic potential. This work focuses on zoonotic tuberculosis caused by Mycobacterium caprae infection in Europe and Portugal, between 2017 and 2023, based on a preliminary literature review. Although a low global incidence of that infection, in certain European countries, such as Germany, Austria, Spain and France, it is more relevant. In Portugal, cases were identified in cattle and goats. However, unlike cattle, goats are only tested when in cohabitation with infected cattle, so only in this situation, or after finding suspected lesions in the health inspection at slaughter, this infection in that species is diagnosed. In the Public Health sector, after obtaining a positive result for the Mycobacterium tuberculosis Complex, the identification to the species level is done only in particular situations, meaning that there may be a situation of underdiagnosis. The spread of this zoonoses occurs at the Human-Animal-Environment in- terface, involving factors such as environmental contamination, circulation of M. caprae in small ruminants and wild species, and transmission routes to humans, including consumption of contaminated products and direct exposure to infected animals. All these factors highlight the importance of a One Health approach to effectively monitor and prevent zoonotic tuber- culosis, with the creation of a One Health working group, the development of intersectoral prevention and surveillance policies, a systematic genomic analysis of epidemiologically related human and animal tuberculosis cases, and raising awareness of occupational risk in high-risk groups.info:eu-repo/semantics/publishedVersio
Maternal age and the prevalence of congenital heart defects in Europe, 1995–2015: A register‐based study
Get PDFBackground: Evidence on the direction and strength of association between maternal age and the prevalence of congenital heart defects (CHD) in different age group categories is conflicting. Some studies have illustrated different trends with an increase in prevalence in younger and older age groups while other studies have reported a linear relationship. Given the increase in maternal age over recent years, it is important to study the CHD prevalence by maternal age.
Objectives: To examine the association between maternal age and the prevalence of CHD in Europe between 1995 and 2015 using population-based data from 24 registries belonging to the European Surveillance of Congenital Anomalies (EUROCAT) network.
Methods: Associations over time of all nonsyndromic CHD according to maternal age category and for three CHD severity groupings (severity group I: very severe; severity group II: severe; severity group III: less severe) were examined using Bayesian multilevel Poisson regression modeling. Further subgroup
analyses were undertaken within four maternal age-bands: ≤24, 25–29, 30–34 and 35–44 years. Descriptive summaries are also presented.
Results: There were 51,608 nonsyndromic CHD cases in Europe over the 20-year study period. Total prevalence for all CHD combined was increased for younger mothers (≤24 years) and for mothers 35–44 years of age when compared with mothers aged 25–29 years (reference group) (IRR: 1.05, 95% CI: 1.02, 1.07). The total prevalence was increased for severity group I (very severe) only for younger mothers compared to those aged 25–29 years (IRR: 1.14, 95% CI: 1.04, 1.23). We found an increased prevalence of the following CHD subtypes: double outlet right ventricle (IRR:1.33, 95% CI: 1.09, 1.60), hypoplastic
left heart syndrome (IRR: 1.18, 95% CI: 1.05, 1.32), hypoplastic right heart syndrome (IRR: 1.41, 95% CI: 1.05, 1.84), atrioventricular septal defect (IRR: 1.15, 95% CI: 1.01, 1.32), coarctation of aorta (IRR: 1.15, 95% CI: 1.03, 1.28) and atrial septal defect (IRR: 1.08, 95% CI: 1.02, 1.13). For older mothers (35–44 years) compared to the reference category, we observed an increased risk in the prevalence for severity group II (IRR: 1.09, 95% CI: 1.03, 1.14), severity group III (IRR: 1.05, 95% CI: 1.01, 1.08) and an increased prevalence of the CHD subtypes: Pulmonary valve stenosis (IRR: 1.22, 95% CI: 1.09, 1.34), ASD
(IRR: 1.07, 95% CI: 1.02, 1.13), CoA (IRR: 1.18, 95% CI: 1.06, 1.32) and Tetralogy of Fallot (IRR: 1.14, 95% CI: 1.01, 1.28). Finally, for all age categories compared to the reference category, different associations of ASD and an increased prevalence of CoA was also observed.
Conclusions: Based on data for cases of CHD from 24 European populationbased registries, evidence of a positive association between maternal age and the total prevalence of CHD for younger (≤24 years old) and older (35–44 years old) mothers was observed. The results suggest that young maternal age (≤24 years old) is a factor associated with severe CHD phenotypes while a positive association between advanced maternal age (35–44 years old) and mild CHD phenotypes was observed.info:eu-repo/semantics/publishedVersio
LDPE and PLA Active Food Packaging Incorporated with Lemon by-Products Extract: Preparation, Characterization and Effectiveness to Delay Lipid Oxidation in Almonds and Beef Meat
Get PDF(This article belongs to the Special Issue Editorial Board Members’ Collection Series in “Food Waste and Byproduct Valorization”)Low-density polyethylene-based packaging with 4% lemon extract (LDPE/4LE) and two polylactic-based (PLA) packaging materials with 4% and 6% lemon extract (PLA/PEG/4LE and PLA/6LE) were produced. O2 and water permeability tests were performed, the total and individual phenolic compounds content were measured, and the films’ antioxidant activities were determined. The films’ ability to delay lipid oxidation was tested in two model foods: almonds, packaged with LDPE/4LE, PLA/4LE and PLA/6LE for a maximum period of 60 days at 40 °C (accelerated assay); and beef meat, packaged with the PLA/6LE for a maximum period of 11 days at 4 °C. The LE improved the WVP in all of the active films by 33%, 20% and 60% for the LDPE/4LE, PLA/4LE and PLA/6LE films, respectively. At the end of 10 days, the migration of phenolic compounds through the PLA films was measured to be 142.27 and 114.9 μg/dm2 for the PLA/4LE and PLA/6LE films, respectively, and was significantly higher than phenolic compounds migration measured for the LDPE/4LE (15.97 μg/dm2). Naringenin, apigenin, ferulic acid, eriocitrin, hesperidin and 4-hydroxybenzoic acid were the main identified compounds in the PLA, but only 4-hydroxybenzoic acid, naringenin and p-coumaric acid were identified in the LDPE films. Regarding the films’ ability to delay lipid oxidation, LDPE/4LE presented the best results, showing a capacity to delay lipid oxidation in almonds for 30 days. When applied to raw beef meat, the PLA/6LE packaging was able to significantly inhibit lipid oxidation for 6 days, and successfully inhibited total microorganisms’ growth until the 8th day of storage.Funding: This study was carried out under the VIPACFood project, funded by ARIMNet2 (Coordination of Agricultural Research in the Mediterranean; 2014–2017), an ERA-NET Action financed by the European Union under the Seventh Framework Programme, and by the Programa de Cooperación Interreg V-A España–Portugal (POCTEP) 2014–2020 (project 0377_IBERPHENOL_6_E). Cássia H. Barbosa is grateful for her research grant in the frame of the VIPACFood project (ARIMNET2/0003/2016) and the Foundation for Science and Technology (FCT), Portugal, for the Ph.D. grant 2021.08154.BD. This research was also funded by PT national funds (FCT/MCTES, Fundação para a Ciência e Tecnologia and Ministério da Ciência, Tecnologia e Ensino Superior) through grants UIDB/50006/2020 and UIDB/00211/2020. L. Barbosa-Pereira is grateful to the Spanish Ministry of Science, Innovation and Universities for her “Juan de la Cierva-Incorporación” grant (Agreement No. IJCI-2017-31665).info:eu-repo/semantics/publishedVersio
Prenatal diagnosis of Beckwith Wiedemann syndrome: a case report
No full textBeckwith-Wiedemann syndrome (BWS) is the most common overgrowth disease. Phenotypically and genetically heterogeneous, it is linked with epigenetic/genetic aberrations on 11p15.4p15.5 chromosome region and the majority of cases are diagnosed after birth with prenatal diagnosis being difficult and depending on the identification of specific ultrasound (US) anomalies. Here we present a case of a fetus from a healthy 21-year-old primiparous woman, with a low risk in the first trimester aneuploidy screening and bilaterally increase in renal volume detected in the second trimester US. An amniotic fluid (AF) sample was collected at 24 weeks. Rapid aneuploidy diagnosis by QF-PCR and sequencing of a multigene panel for renal dysplasia were performed with a normal result for common aneuploidies and detection of a variant with uncertain significance, respectively. The pregnant was referred to a differentiated prenatal diagnosis center and a detailed US at 30 weeks and 3 days showed multiple features suggestive of BWS: macroglossia, weight estimation at P100, significantly enlarged kidneys without corticomedullary differentiation, hepatomegaly, prenasal and cervical subcutaneous thickening, and suspected cardiomegaly without structural heart disease. The methylation pattern study of 11p15 region by MS-MLPA revealed hypermethylation of H19/GF2: IG differentially methylated region (DMR), confirming the Beckwith-Wiedemann diagnosis.
In contrast to postnatal cases that can be diagnosed by phenotypic scoring, prenatal diagnosis of BWS is relatively challenging because some common features cannot be detected by US and other features appear only after 30 weeks of gestation and may be missed on second-trimester morphological ultrasound. Omphalocele is the most common prenatal phenotypic BWS-associated feature, and is the first and most easily identified in prenatal screening, but there are other features that may suggest BWS such as macroglosia, macrosomia, placental mesenchymal dysplasia, polyhydramnios, and visceromegaly. Routine molecular testing of all fetuses with one or more prenatal BWS-associated features is of utmost importance, as early diagnosis is significantly beneficial for prenatal counselling, perinatal management allowing for better birth planning and postnatal care for neonatal hypoglycemia, respiratory distress, and risk of malignancy.N/
Obesity dialogues – fostering policy options in Western Balkans and Central Asia
Get PDFIntroduction: Obesity has been identified as a serious public health challenge globally and a major determinant of premature death and disability in the WHO European Region. More than 50% of adults and one in three children around the Region are living with overweight or obesity, with prevalence close to 70% in several countries. In 2022, The WHO European Office for the Prevention and Control of Noncommunicable Diseases (NCD office) organized two policy dialogues with the objectives to highlight the obesity situation, present possible interventions and prioritize policy actions to tackle this public health issue in the regions of Western Balkans and Central Asia.
Methods: Two key professionals and decision makers per country/territory were invited to discuss the current state as well as challenges and opportunities related to prevention and management of obesity in Skopje, North Macedonia (MKD) for the Western Balkans countries/territory and in Bishkek, Kyrgyzstan (KGZ) for the Central Asian countries. Dialogues were kindly supported by the Ministries of Health of the host countries with personal presence of the Ministers of Health and in MKD with the presence of the First Lady of the country.
Results: WHO’s representatives presented on the burden of obesity in the countries of the Region by providing comprehensive data collected by the NCD Office through regular surveillance, as well as a summary of possible multisectoral actions listed in the recently published WHO European Obesity Report and other documents like the “Best Buys” to tackle NCDs. Country experiences were shared on implementing policies to reduce obesity burden like the public health tax in Hungary and the SSB tax and food marketing regulation in Portugal and also double duty actions to address the burden of both undernutrition and obesity, particularly important in the Central Asian countries. Participating countries, as final exercise of the one-day event, were asked to prioritize actions, according to the national context, and to assess the feasibility of its implementation over the short, medium, and long term.
Conclusions: Participating countries at both events found that this activity was a novelty in their national approaches to tackle obesity in Western Balkans and the double burden of obesity and malnutrition in Central Asia and increased their knowledge on a whole-of government multicomponent approach to address obesity. Both the representatives of the European Region of the WHO and the participating countries concluded that dialogues among stakeholders at national level, as initiated at these meetings, should be stimulated, and executed if any success in tackling rising trends of obesity should be expected. Follow up on countries’ priorities should be performed to assess the progress and to support experts and policy makers in evidence-informed decision making for obesity.This study has been produced with financial assistance of the Government of the WHO European Office for the Prevention and Control of NCDs. The funders played no role in the design, conduct or reporting.info:eu-repo/semantics/publishedVersio
Efficacy of the Vaccine Candidate Based on the P0 Peptide against Dermacentor nitens and Ixodes ricinus Ticks
Get PDF(This article belongs to the Collection Advances in Tick Research)The control of ticks through vaccination offers a sustainable alternative to the use of
chemicals that cause contamination and the selection of resistant tick strains. However, only a limited number of anti-tick vaccines have reached commercial realization. In this sense, an antigen effective against different tick species is a desirable target for developing such vaccines. A peptide derived from the tick P0 protein (pP0) conjugated to a carrier protein has been demonstrated to be effective against the Rhipicephalus microplus, Rhipicephalus sanguineus, and Amblyomma mixtum tick species. The aim of this work was to assess the efficacy of this peptide when conjugated to the Bm86 protein against Dermacentor nitens and Ixodes ricinus ticks. An RNAi experiment using P0 dsRNA from I. ricinus showed a dramatic reduction in the feeding of injected female ticks on guinea pigs. In the follow-up vaccination experiments, rabbits were immunized with the pP0-Bm86 conjugate and challenged simultaneously with larvae, nymphs, and the adults of I. ricinus ticks. In the same way, horses were immunized with the pP0-Bm86 conjugate and challenged with D. nitens larva. The pP0-Bm86 conjugate showed efficacies of 63% and 55% against I. ricinus and D. nitens ticks, respectively. These results, combined with previous reports of efficacy for this conjugate, show the promising potential for its development as a broad-spectrum anti-tick vaccine.This research was funded by the Center for Genetic Engineering and Biotechnology,
Havana, Cuba, the Instituto de Higiene e Medicina Tropical, Universidade Nova de Lisboa, Portugal,
and the Czech Science Foundation grant no. 20-05736S. Mobility was supported by the CYTED
Network INCOGARR 110RT0541.info:eu-repo/semantics/publishedVersio