National Institute of Health Dr. Ricardo Jorge
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Genetic Testing in Familial Hypercholesterolemia: Is It for Everyone?
Get PDFReviewPurpose of Review:
Lipid measurements and genetic testing are the main diagnostic tools for FH screening that are available in many countries. A lipid profile is widely accessible, and genetic testing, although available worldwide, in some countries is only performed in a research context. Still FH is diagnosed late, showing lack of early screening programs worldwide.
Recent Findings:
Pediatric screening of FH was recently recognized by the European Commission Public Health Best Practice Portal as one on the best practices in non-communicable disease prevention. The early diagnosis of FH and the lowering of LDL-C values over lifespan can reduce the risk of coronary artery disease and offer health and socioeconomic gains.
Summary:
Current knowledge about FH shows that early detection through appropriate screening needs to become a priority in healthcare systems worldwide. Governmental programs for FH identification should be implemented to unify the diagnosis and increase patient identification.info:eu-repo/semantics/publishedVersio
Evaluation of the nutritional characteristics of sweet pastry products available in the Portuguese market in 2023
No full textNon-communicable diseases are a public health concern that results in several deaths each year. Diseases like diabetes, hypertension, obesity, among others, continue to increase, being the majority of the cases associated with behavioural factors, such as poor dietary habits.
This study aimed to evaluate the nutritional characteristics of sweet pastry products, available in the Portuguese market in 2023, through the comparison of the nutritional information with two front-of-pack schemes (traffic light and Nutri-Score) and with the recommendations from the Integrated Strategy for the Promotion of Healthy Eating (EIPAS).
Information for 52 pastry products was collected, between January and February 2023, from the websites of supermarket chains available in Portugal. The data set included information concerning: ingredients list, traffic light, Nutri-Score, and nutrition declaration, among others. Products were grouped into 8 categories and some had subcategories.
None of the studied products were in line with EIPAS recommendations in terms of sugar and salt contents. According to Nutri-Score, 98% of the products were classified as C (8%), D (57%) or E (33%). For salt, 96% of the products are classified as amber (medium content) and none of the products as red (high content). However, more than half of the products were classified as red (high content) for fat (56%), saturated fatty acids (63%) and sugars (62%).
A considerable number of the studied sweet pastry products still have high amounts of saturated fatty acids and sugars. Therefore, it is of utmost importance to reformulate these products, not only envisaging to decrease its content on the harmful nutrients, but also increasing the content of nutrients linked with health benefits, like dietary fibre and unsaturated fatty acids.N/
PROPHET - PeRsOnalized prevention roadmap for the future HEalThcare: Task N° 3.2. Identification and validation of the best framework to appraise and adopt personalized preventive approaches
No full textThe PROPHET Framework: Task N° 3.2. - THL, INSA (co-lead), DEB, UCSC, KU Leuven, UGENT.Sobre a Task N° 3.2. Identification and validation of the best framework to appraise and adopt personalized preventive approaches do Projeto PROPHET - PeRsOnalized prevention roadmap for the future HEalThcare.PROPHET is funded by the European Commission under the Horizon Europe research and innovation programme under Grant Agreement N 101057721info:eu-repo/semantics/publishedVersio
Sustained importance of Streptococcus pneumoniae among pediatric complicated Pneumonia in Portugal (2019-22)
No full textPortuguese Group for the Study of Streptococcal Infections: Margarida Pinto, Miguel Seruca, João Marques, Isabel Peres, Teresa Pina, Isabel Lourenço, Teresa Ferreira, Cristina Marcelo, Isabel Daniel, Odete Chantre, Teresa Vaz, Marília Gião, Rui Ferreira, Rui Tomé Ribeiro, Celeste Pontes, Luísa Boaventura, Catarina Chaves, Teresa Reis, Henrique Oliveira, Catarina Chaves, Mariana Silva, Ana Aguiar, Hugo Loureiro, Adriana Pedrosa, Hermínia Costa, Maria Fátima Silva, Maria Amélia Afonso, Mariana Fardilha, Natália Novais, Isabel Brito, Luís Marques Lito, Ana Bruschy Fonseca, Filomena Martins, Maria Ana Pessanha, Elsa Gonçalves, Teresa Morais, Cristina Toscano, Paulo Lopes, Angelina Lameirão, Gabriela Abreu, Aurélia Selaru, Ana Paula Mota Vieira, Margarida Tomaz, Cláudia Ferreira, Marta Nicolau, Maria Helena Ramos, Ana Paula Castro, Virgínia Lopes, Fernando Fonseca, Ana Paula Castro, Nuno Canhoto, Teresa Afonso, Ilse Fontes, Paulo Martinho, Gina Marrão, Ana Domingos, José Grossinho, Manuela Ribeiro, Helena Gonçalves, Alberta Faustino, Maria Cármen Iglesias, Maria Paula Pinheiro, Rui Semedo, Adriana Coutinho, Luísa Gonçalves, Olga Neto, Luísa Sancho, José Diogo, Filipa Fortunato, Isabel Nascimento, Nadiya Kruptsala, Cláudia Fidalgo, Elmano Ramalheira, Raquel Diaz, Sónia Ferreia, Inês Cravo Roxo, Isabel Vale, Maria João Tomás, Maria Antónia Read, Valquíria Alves, Margarida Monteiro, Margarida Rodrigues, José Mota Freitas, Sandra Vieira, Elsa Calado, Paula Pinto, Ana Custódio, Maria Favila Menezes, José Germano de Sousa, Mariana Bettencourt Viana, Marvin Oliveira, Isaura Terra, Vitória Rodrigues, Sofia Marques, Joana Selada, Patrícia Pereira, Jesuína Duarte, Paula Pinto, Ezequiel Moreira, Adília Vicente, Fátima Vale, Joana Ramos, Rita Gralha, Ana Helena Correia, Paula Gama, Catarina Silva-Costa, Joana Gomes-Silva, Marcos Pinho, Célia Rodrigues Bettencourt, Miguel Pinto;
Portuguese Study Group of Paediatric Invasive Streptococcal Disease: Sónia Aires, Eurico Gaspar, Manuela Ferreira, Fernanda Pereira, Graça Pombo, Maria José Dinis, Paulo Teixeira, José Amorim, Cláudia Monteiro, Diana Moreira, Sofia Arosa, Laura Marques, Margarida Tavares, Maria Manuel Zarcos, Sílvia Almeida, Fernanda Rodrigues, Jorge Rodrigues, Pedro Carvalho, Catarina Gouveia, Ana Isabel Carvalho, Alexandra Costa, Elsa Gonçalves, Filipa Prata, João Calado Nunes, Julieta Morais, Florbela Cunha, Paula Correia, Ana Margarida Chaves, Sofia Lima, João Neves, João Bivar, Pedro Flores, Sofia Fraga, Isabel Brito, Cristina Didelet, Estela Veiga, Carla Cruz, Graça Seves, Céu Novais, Maria João Virtuoso, Nancy Guerreiro, Francisco Gomes, Dora Gomes, Carolina Gonçalves, Nuno CanhotoAbstract publicado em ESPID 2023 Abstracts Book, p. 79: https://espidmeeting.org/wp-content/uploads/sites/19/2023/05/ESPID23-Abstracts-Book.pdfBackgrounds: To improve the etiological diagnosis of culture-negative pediatric complicated pneumonia
(PCP), we expanded our real-time PCR assay to include other bacterial agents and evaluate potential
changes in etiology after 7 years of near universal use of 13-valent conjugate pneumococcal vaccine
(PCV13).
Methods: We collected 156 culture-negative pleural fluid and empyema samples from children (<18
years), in 62 hospitals in Portugal, from January 2019 to December 2022. Our assay included
Streptococcus pneumoniae, Streptococcus pyogenes, Staphylococcus aureus, Mycoplasma pneumoniae,
Haemophilus influenzae, Mycobacterium tuberculosis and Streptococcus agalactiae. For S. pneumoniae
cases we performed molecular serotyping.
Results: Overall, 78 samples were negative for all bacteria tested (50.0%). Among the remaining 78
samples, the majority was positive for S. pneumoniae (n=64, 41.0%). S. pyogenes was found in 7
samples (4.49%), S. aureus in 5 samples (3.20%), H. influenzae in 2 samples (1.28%), and M.
pneumoniae in 1 sample (0.64%). We did not detect M. tuberculosis nor S. agalactiae. In 2 samples, we
detected the presence of DNA from both S. pneumoniae and another species: S. aureus (n=1) and H.
influenzae (n=1). Among the pneumococcal samples, 44 were serotype 3 (56.4%), 5 were serotype 8
(6.41%), 2 were serotype 14 (2.56%) and serotypes 15A, 16F, 19A, 19F and 6C/6D were detected in 1
sample each (1.28% each). The remaining were negative for all serotypes tested (4.49%).
Conclusions/Learning Points: After two decades of pneumococcal conjugate vaccine use, S.
pneumoniae is still responsible for most culture-negative PCPs, with PCV13 serotype 3 responsible for
most cases. Expanding the molecular diagnostic panel to other species allowed the identification of the
etiology of only an additional 9.62% of cases, suggesting that bacteria other than S. pneumoniae remain
infrequent despite PCV13 use.N/
Detection of copy number variants in the human genome: Is long-read sequencing an alternative to genomic microarrays?
No full textIntroduction: Copy number variations (CNVs) represent ~13% of the human genome and can harbour important genes and regulatory elements. High-resolution whole genome microarray (MA) analysis is the gold standard tool for detection of CNVs associated with genetic disorders. While short-read sequencing (SRS) can address SV detection, the use of long-read sequencing as proven to overcome SRS mapping inaccuracy in highly repetitive DNA regions and improve genome contiguity. We applied whole genome nanopore sequencing (NS) to call CNVs and compared the results with those obtained by microarray.
Methodology: Genomic DNA from 2 cell lines (EOL-1 and 697) were processed using the CytoSan HD Array (Affymetrix) and ChAS software (ThermoFisher). A minimum CNV calling size threshold of 35 Kb was used. DNA was also sequenced on the MinION device (Oxford Nanopore Technologies) following a rapid library preparation method. Sequencing data were basecalled using Guppy, mapped with LRA, and SVs called using both CuteSV and Sniffles2. Sanger sequencing was performed to demonstrate breakpoint positions for 3 CNVs. R packages were used to perform comparisons between MA and NS data.
Results: A total of 49 CNVs were confirmed after curated MA analysis in both cell lines, ranging in size from 35 Kb to 79 Mb. From those, 43 CNVs (87.7%) were called in nanopore data by either one (4 CNVs) or both (39 CNVs) callers with a mean whole genome coverage of ~12X. Six of 43 CNVs were called as inversions instead. In 3 CNVs the size of the variant was found to be smaller (ranging from ~5 to 22 Kb) than the threshold of MA analysis. The correlation between CNV sizes obtained with MA and NS was of 0.71 with Sniffles2 and 0.74 with CuteSV, whereas the correlation between callers was of 0.99. The breakpoint precision obtained for NS was much higher (ranging for CuteSV from 2 to 42 bp; and for Sniffles2 from 0 to 87 bp) than the one obtained for MA (ranging from 774 to 7618 bp).
Conclusions: NS technology proved to be technically effective in the detection of CNVs of different types and sizes and thus posing itself as an alternative to MA in the detection of pathogenic SVs associated with genetic diseases. However, NS data analysis requires fine-tuning of the analysis conditions as well as the use of different methods, for greater reliability of results in a clinical context.Funding: This work is a result of the GenomePT project (POCI-01- 0145-FEDER-022184), supported by COMPETE 2020 – Operational Programme for Competitiveness and Internationalisation (POCI), Lisboa Portugal Regional Operational Programme (Lisboa2020), Algarve Portugal Regional Operational
Programme (CRESC Algarve2020), under the PORTUGAL 2020 Partnership Agreement, through the European Regional Development Fund (ERDF), and by Fundação para a Ciência e a Tecnologia (FCT). This work was also supported by Fundos FEDER through the Programa Operacional Factores de Competitividade –
COMPETE and by Fundos Nacionais through the FCT within the scope of the project UID/BIM/00009/2019 (Centre for Toxicogenomics and Human Health-ToxOmicsN/
Overview of EFSA reporting tools for the continuous collection of chemical contaminants occurrence data - 2023
No full textFavor verificar Título. É diferente do título no ficheiro da apresentação.About overview of EFSA reporting tools for the continuous collection of chemical contaminants occurrence data.info:eu-repo/semantics/publishedVersio
Social prescribing and other health promotion strategies in the community: the experience of a country exchange visit
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Comparative Analysis of the Toxicity Profile of Eleven Consumer-Relevant Nanomaterials in Human Intestinal and Placental Barrier Cells
Get PDFBackground: The growing number of items incorporating nanomaterials (NM) has prompted considerable concerns about human health and safety [1]. Metal nanoparticles, inorganic non-metallic, and carbon-based NM are among the types with the highest market volume [2]. Objective: The purpose of this study was to determine the effect of chemical composition [Ag, Au, TiO2, SiO2, and graphene oxide (nano_GO)], primary size (10, 30 and 60 nm AgNP and AuNP), crystal structure (TiO2NP rutile/anatase and anatase), and surface coating (citrate and PEGylated AuNP) on potential toxicity to human intestinal (Caco-2) and placental (BeWo b30) epithelial cells. Methods: Changes in cell morphology, metabolic activity, plasma membrane integrity, intracellular ROS and ATP levels, and DNA integrity were assessed to investigate their potential toxicity at 24 h after exposure. Results: In both barrier models, the toxicity profile was similar, however placentalwere more sensitive than intestinal epithelial cells. Overall, NM may be ranked for cytotoxicity as AgNP > nano_GO > AuNP ~ TiO2NP ~ SiO2NP, with the effects becoming more evident at greater concentrations. The influence of size was more pronounced for AgNP than for AuNP, with the smaller nanoparticles producing higher cytotoxic effects. The cytotoxicity of AuNP was prevented by PEG capping. AgNP and nano_GO exposure markedly raised the levels of ROS, indicating that oxidative stress may play a role in their cytotoxicity. Except for 10 nm AuNP, every NM tested markedly increased intracellular ATP levels. One interesting finding was that a higher cytotoxic potential did not necessarily equate to a higher genotoxic potential, since only AgNP (classified as positive) and anatase TiO2NP (classified as equivocal) caused DNA damage. Conclusions: Our findings alert to the potential risks associated with human barriers exposure to NM, where the physicochemical properties are important determinants of their toxicity. Additional research is needed for a deeper understanding of NM impact on human barriers.This research was funded by the project NanoBioBarriers, grant number PTDC/MED‐TOX/31162/2017, co-financed
by the Operational Program for Competitiveness and Internationalization (POCI) through European Regional Development Funds (FEDER/FNR) and the Foundation for Science and Technology (FCT/MCTES). This work is financed
by national funds through FCT – Foundation for Science and Technology within the scope of projects
UIDB/04750/2020 and LA/P/0064/2020.info:eu-repo/semantics/publishedVersio
Avaliação de exposição a metilmercúrio: o caso português
Get PDFDevido à presença de metilmercúrio (MeHg) no pescado e à importancia que o pescado tem na alimentação dos portugueses, torna-se necessário saber se existe exposição humana ao MeHg em Portugal. Através da divulgação dos resultados de dois estudos de avaliação da exposição das mulheres portuguesas em idade fértil ao MeHg realizados no INSA, conclui-se que existe exposição e que esta é superior à encontrada em estudos realizados em outros países europeus.N/
Lithium occurrence in food produced in the surroundings of the C-57 mine
No full textThe interest in lithium (Li) has grown over the last decades, mainly due to its application in electronic products and electric vehicles (2020, Kaunda). Li is not considered an essential nutrient for vital functions, and at high levels could be toxic to humans (2021, Bolan).
Portugal is a country with active and prospective Li mining concessions. This pioneering study aims to evaluate the Li contents in cabbages and irrigation water in rural areas near the C-57 Li pegmatite mine in Gonçalo (Guarda district, Portugal). The distance between the sampling locations and the mine classified them as near (up to 1,5 km, L1) or far (between 2 and 8,5 km, L2) to the mine.
Twelve subsistence farms constituted the sampling plan in both locations. Three cabbages were collected in each farm (n=72) and analysed as a laboratory pool (n=24); water samples were also collected at each location. Li amounts in the selected samples were determined by Inductively Coupled Plasma Mass Spectrometry (ICP-MS), and cabbage analysis was preceded by microwave-closed vessel acid digestion. Analytical procedures were conducted following the quality assurance requirements described in the ISO/IEC 17025:2017 standard. The Li concentration in each location was expressed, as the average of three replicates, in μg/kg of fresh weight for cabbages and μg/l for water.
The results from L1 are, on average, higher than those found in L2. On cabbage samples, the Li ranged from 44.4 ± 0.7 μg/kg to 1626 ± 32 μg/kg μg/kg in L1 and from 33 ± 1 μg/kg to 509 ± 19 μg/kg in L2; on irrigation water the Li levels ranged from 6.1 ± 0.1 μg/l to 36.6 ± 0.4 μg/l in L1 and from 2.40 ± 0.04 μg/l to 16.7 ± 0.4 μg/l in L2.
The results show the influence of the geogenic lithium resource proximity.This work is financed by national funds through FCT – Fundação para a Ciência e a Tecnologia, I.P., under the project EXPL/CTA-AMB/0977/2021N/