National Institute of Health Dr. Ricardo Jorge
Repositório Científico do Instituto Nacional de SaúdeNot a member yet
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Antisense oligonucleotide exon-skipping as a therapeutic approach for a rare disease
No full textMucolipidosis II (MLII) is a Lysosomal Storage Disorder caused by the
deficiency of the enzyme GlcNAc-1-phosphotransferase, which is responsible for the Mannose-
6-Phosphate marker addition to lysosomal enzymes. Of all MLII mutations, the
c.3503_3504delTC in GNPTAB exon 19 is the most frequent, making it a good target for a
personalized therapy. Here, we explored an innovative therapeutic strategy based on the use of
antisense oligonucleotides (ASOs) for MLII. Previously, on MLII patients’ fibroblasts, ASOs
were used to skip exon 19 of the GNPTAB pre-mRNA, successfully resulting in the production
of an in-frame mRNA[1]. Now, our aim is to analyze if these results are translated to the
enzymatic and cellular phenotype level.This work is supported by the Portuguese Foundation for Science and
Technology (FCT), project SpliceTher (PTDC/BBB-BMD/6301/2014), by the “Bolsa da
Sociedade Portuguesa de Doenças Metabólicas (SPDM) de apoio à investigação Dr. Aguinaldo
Cabral 2019” (2020DGH1834) and by the Center for the Study of Animal Science (CECA-
ICETA), University of Porto, Portugal.N/
Energy, total fat, saturated fat and salt of precooked sausages, in 2023 Portuguese market
Get PDFIntroduction:
The awareness of risks of high salt intake on public health is reflected by the goal of reaching individual intake of 5 g/day by 2020 was set by the Integrated Strategy for Healthy Eating Promotion (EIPAS). EIPAS also refers energy and fat as health concerns. Sausages, that can be meat or vegetable-based, are sources of fat, saturated fat and salt.
Aims:
To characterize the nutritional composition of precooked sausages available on Portuguese market through labelling information and its compliance with reference documents.
Methodology:
Nutritional information on the labelling of precooked sausages, regarding energy, total fat, saturated fat and salt, available on Portuguese market was gathered from online stores of Portuguese supermarkets in 2023. Comparisons were made based, for salt on EIPAS goal (0.3 g/100 g), and for fat and saturated fat on Directorate-General of Health Label Decoder.
Results:
82 precooked sausages based on pork (45), poultry (24) and vegetable (13) presented complete nutritional information.. The nutritional content per 100 g, expressed as median, was: for pork-based sausages,: energy-209 kcal , fat-17 g (5.8 g saturated) and salt-1.8 g of; for poultry-based sausages: energy-147 kcal , fat-10.5 g (3.1 g saturated) and salt-1.7 g; and for vegetable-based sausages: energy-217 kcal , fat-18 g (2.2 g saturated) and salt-1.5 g. Vegetable-based sausages presented higher energy and fat than meat-based sausages but lower saturated fat and salt content.
Conclusions:
Precooked sausages, based on the Label Decoder, showed medium contents of fat and saturated fat, and high content of salt (also higher than the EIPAS salt goal). Vegetable-based sausages presented the lowest salt and the highest energy and total fat contents. Pork-based sausages showed the highest saturated fat and salt content. In poultry-based sausages was found the lowest energy and fat contents. None of the products complied with EIPAS recommendations for salt.info:eu-repo/semantics/publishedVersio
Exposição ambiental e ocupacional da população portuguesa a metais e seus determinantes
Get PDFA União Europeia reconheceu o papel relevante da biomonitorização humana (BMH) na geração do conhecimento para a avaliação dos efeitos cumulativos da exposição a químicos, tendo em conta as várias vias e fontes de exposição e, neste sentido, cofinanciou a Iniciativa Europeia de Biomonitorização Humana (2017-2022), projeto que envolveu 116 instituições de 30 países e teve como objetivo utilizar a biomonitorização humana para avaliar a exposição humana a substâncias químicas, com vista a uma melhor compreensão dos impactos associados na saúde e à melhoria da avaliação dos riscos químicos. No âmbito desta iniciativa, Portugal participou no estudo realizado para avaliação da exposição da população geral a químicos selecionados como prioritários (Estudos Alinhados do HBM4EU), entre os quais o cádmio, e no estudo ocupacional para avaliação da exposição a crómio hexavalente. Nesta comunicação serão apresentados os resultados portugueses, nomeadamente dados da exposição a cádmio na população geral e da exposição a crómio em trabalhadores.O estudo INSEF-ExpoQuim e o estudo ocupacional do crómio foram financiados no âmbito da
Iniciativa Europeia de Biomonitorização Humana (HBM4EU) que recebeu financiamento do
programna de investigação e inovação Horizonte 2020 da União Europeia (acordo de subvenção
733032) e das instituições participantes.N/
Fighting occupational risks among Portuguese wildland firefighters: looking at cytogenetic effects
No full textAbstract publicado em: Scientific Letters. 2023;1(Sup 1). https://doi.org/10.48797/sl.2023.56Background:Evidence linking wildland firefighters’ occupational exposure and health outcomes is still limited. Cytogenetic endpoints have long been applied in the surveillance of human genotoxic exposures and early effects of genotoxic carcinogens. Therefore, it is of utmost importance to clarify the exposure-induced cytogenetic effects concerning wildland firefighters’ occupational exposure at different time points (Pre-fire season and fire season). Objective:Here, we aim to evaluate the cytogenetic levels in buccal cells among a group of wildland firefighters during a Pre-fire season, considering both the i) influence of self-reported variables (e.g., lifestyle) on buccal micronucleus cytome assay (BMCyt) outcomes and ii) the cytogenetic damage in exfoliated buccal cells considering the estimated inhalation doses to particulate matter (PM) in non-fire work settings. Methods:A total of 176 northern Portuguese wildland firefighters (82% males; mean age of 37.5 ± 10.9) were recruited during the pre-fire season of 2021. Relevant information was obtained through a self-administered questionnaire. Genomic instability was assessed for 172 northern Portuguese wildland firefighters by BMCyt. PM10 and PM2.5 inhalation doses (indoor/outdoor) were estimated for a group of 80 firefighters based on methods described elsewhere [1]. Results:Some lifestyle variables (e.g., daily consumption of vegetables) shown to have a protective role on some BMCyt endpoints (p<0.05), whereas others such coffee consumption or being partof Permanent Intervention Teams (full-time firefighters) presented a negative impact (p<0.05). No significant association was found between estimated inhaled doses of PM10and PM2.5 (mean 1.73 ± 0.43 μg kg-1and 0.53 ± 0.21 μg kg-1, correspondingly) and BMCyt endpoints. Conclusions:The characterization of a population is a very important step to have a broad perspective of the potential risk factors that may influence the studied endpoints in further analysis. Surveillance based on (bio)monitoring programs may be a crucial tool to identify firefighters at high risk for developing adverse health outcomes.This work received financial support from the project PCIF/SSO/0017/2018 by the Fundação para a Ciência e a
Tecnologia (FCT), Ministério da Ciência, Tecnologia e Ensino Superior (MCTES) through national funds. Filipa
Esteves, the recipient of the PhD grant UI/BD/150783/2020, is supported by FCT and by the European Social Fund
(ESF). Joana Madureira, under the grant SFRH/BPD/115112/2016, is supported by FCT and by ESF, through Pro grama Operacional Capital Humano (POCH). This work is financed by national funds through the FCT within the scope of projects UIDB/04750/2020 and LA/P/0064/2020. Additional support was received from LA/P/0045/2020 (ALiCE) and UIDB/00511/2020 - UIDP/00511/2020 (LEPABE), UIDB/00690/2020 - UIDP/00690/2020 (CIMO) and SusTEC (LA/P/0007/2021).info:eu-repo/semantics/publishedVersio
Portuguese Familial Hypercholesterolemia Study (1999-2021): phenotype-genotype characterization
Get PDFA Hipercolesterolemia Familiar (FH) é uma condição genética comum
do metabolismo dos lípidos, que se encontra subdiagnosticada. Existem
três genes primários associados à FH (LDLR, APOB e PCSK9) e 5
genes fenocópias (LDLRAP1, LIPA, ABCG5, ABCG8 e APOE), que conferem
um fenótipo semelhante à FH. Neste trabalho pretende-se
apresentar a relação fenótipo-genótipo dos indivíduos com critérios
clínicos de FH referenciados ao Estudo Português de Hipercolesterolemia
Familiar. Até ao fim de 2021 foram estudados molecularmente
1005 indivíduos com critérios clínicos de FH. Destes, foram confirmados
geneticamente com FH (FH positivos), 417 casos-índex (408
heterozigotos e 9 homozigotos). Com os estudos familiares identificaram-
se adicionalmente 581 heterozigotos e 2 homozigotos. De entre
os FH positivos, os casos-índex com variantes de alelo nulo apresentam
um fenótipo mais severo do que os casos-índex com variantes de
alelo defeituoso. Cerca de 1% dos casos-índex foram diagnosticados
com outras causas monogénicas. Dos FH negativos, 34% apresenta
hiper-Lp(a), 18% tem uma hipercolesterolemia de causa poligénica e
1% possui uma variante patogénica em heterozigotia nos genes fenocópias
da FH. As diferentes causas genéticas contribuem para uma
variedade de fenótipos que requerem diferentes formas de gestão da
doença, terapias específicas e têm implicações na estratificação do
risco cardiovascular e no rastreio dos familiares, sendo por esta razão
essencial que seja identificada a etiologia da hipercolesterolemia o
mais precocemente possível para melhorar o prognóstico dos indivíduos
com FH.Familial Hypercholesterolemia (FH) is a common genetic condition
of lipid metabolism that is underdiagnosed. There are three primary
genes associated with FH (LDLR, APOB and PCSK9) and 5 phenocopy
genes (LDLRAP1, LIPA, ABCG5, ABCG8 and APOE), which confer a phenotype
FH-like. In this work, we present the phenotype – genotype
characterization of individuals with clinical criteria of FH referred
to the Portuguese FH Study. Until the end of 2021, 1005 individuals
with clinical diagnosis of FH were molecularly studied. Of these, 417
index cases (408 heterozygotes and 9 homozygotes) were genetically
confirmed with FH (FH positive). Cascade screening also identified 581 heterozygotes and 2 homozygotes. Among the FH positives,
the index cases with null allele variants show a more severe phenotype
than the index cases with defective allele variants. About 1% of
the index cases were diagnosed with other monogenic causes. Of the
FH negatives, 34% have hyper-Lp(a), 18% have a polygenic hypercholesterolemia
and 1% have a pathogenic variant in heterozygosity
in a FH phenocopy genes. The different genetic causes contribute to a
variety of phenotypes that require different forms of disease management,
specific therapies and have implications for cardiovascular
risk stratification and family screening. Therefore, it is essential that
the etiology of hypercholesterolemia is identified as early as possible
to improve the prognosis of individuals with FH.info:eu-repo/semantics/publishedVersio
Molecular Capture of Mycobacterium tuberculosis Genomes Directly from Clinical Samples: A Potential Backup Approach for Epidemiological and Drug Susceptibility Inferences
Get PDF(This article belongs to the Special Issue CRISPR-Cas in Genomic Manipulation and Antimicrobial Resistance)The application of whole genome sequencing of Mycobacterium tuberculosis directly on clinical samples has been investigated as a means to avoid the time-consuming need for culture isolation that can lead to a potential prolonged suboptimal antibiotic treatment. We aimed to provide a proof-of-concept regarding the application of the molecular capture of M. tuberculosis genomes directly from positive sputum samples as an approach for epidemiological and drug susceptibility predictions. Smear-positive sputum samples (n = 100) were subjected to the SureSelectXT HS Target Enrichment protocol (Agilent Technologies, Santa Clara, CA, USA) and whole-genome sequencing analysis. A higher number of reads on target were obtained for higher smear grades samples (i.e., 3+ followed by 2+). Moreover, 37 out of 100 samples showed ≥90% of the reference genome covered with at least 10-fold depth of coverage (27, 9, and 1 samples were 3+, 2+, and 1+, respectively). Regarding drug-resistance/susceptibility prediction, for 42 samples, ≥90% of the >9000 hits that are surveyed by TB-profiler were detected. Our results demonstrated that M. tuberculosis genome capture and sequencing directly from clinical samples constitute a potential valid backup approach for phylogenetic inferences and resistance prediction, essentially in settings when culture is not routinely performed or for samples that fail to grow.The acquisition of WGS-associated equipment used in this study (including the Illumina NextSeq 2000) was funded by the HERA project (Grant/2021/PHF/23776) supported by the
European Commission through the European Centre for Disease Control and Prevention and partially funded by 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).info:eu-repo/semantics/publishedVersio
Evaluation of Bile Salts on the Survival and Modulation of Virulence of Aliarcobacter butzleri
No full text(This article belongs to the Special Issue Arcobacteraceae and Campylobacteraceae: Prevalence, Virulence and Antibiotics Resistance)Aliarcobacter butzleri is a Gram-negative bacterium associated with infections of the gastrointestinal tract and widely distributed in various environments. For successful infection, A. butzleri should be able to tolerate various stresses during gastrointestinal passage, such as bile. Bile represents an antimicrobial host barrier that acts against external noxious agents and consists of a variety of bile salts. The intestinal bile salts act as detergents involved in the antimicrobial host defense; although, on the bacterial side, they could also serve as a signal to activate virulence mechanisms. The aim of this work was to understand the effects of bile salts on the survival and virulence of A. butzleri. In our study, A. butzleri was able to survive in the presence of human physiological concentrations of bile salts. Regarding the virulence features, an increase in cellular hydrophobicity, a decrease in motility and expression of flaA gene, as well as an increase in biofilm formation with a concomitant change in the type of biofilm structure were observed in the presence of sub-inhibitory concentration of bile salts. Concerning adhesion and invasion ability, no significant difference was observed. Overall, the results demonstrated that A. butzleri is able to survive in physiological concentrations of bile salts and that exposure to bile salts could change its virulence mechanisms.Funding: This research was developed within the scope of the CICS-UBI projects UIDB/00709/2020 and UIDP/00709/2020, funded by national funds through the Portuguese Foundation for Science and Technology/MCTES. Cristiana Mateus is recipient of a doctoral fellowship (UI/BD/151023/2021) under the scope of the CICS-UBI Programmatic Funding (UIDP/00709/2020). Susana Ferreira acknowledges UBI and FCT by the contract of Scientific Employment according to DL57/2016. The microscopy facility used in the development of this work is part of the PPBI-Portuguese Platform of BioImaging and is partially supported by the Project POCI-01-0145-FEDER-022122.info:eu-repo/semantics/publishedVersio
Packaging of Fresh Poultry Meat with Innovative and Sustainable ZnO/Pectin Bionanocomposite Films—A Contribution to the Bio and Circular Economy
Get PDF(This article belongs to the Special Issue Biodegradable Films and Composite Coatings: Current and Future Trends)The development of innovative/sustainable materials capable of enlarging the shelf-life of food products has lately been a focus of research, aiming to reduce food waste. Due to their good antimicrobial properties, zinc oxide nanoparticles (ZnO NPs) can add activity to food packaging, improving its performance. Furthermore, these nanoparticles are considered GRAS by the Food and Drug Administration (FDA), which represents an advantage in their application. Through an innovative and sustainable approach using tomato and passionfruit extracts, ZnO NPs were produced and incorporated into pectin films. The resulting bionanocomposites were tested for their activity via in situ studies, using fresh poultry meat as a food matrix. Overall, the bionanocomposites presented good antimicrobial activity, with the intrinsic antimicrobial properties of pectin having shown to be enhanced by the incorporated ZnO NPs. When used as primary packaging for the meat, the deterioration rate of the poultry meat, measured through microbiological growth and total volatile basic nitrogen content, was reduced. However, the nanoparticles contributed to the increment of discoloration and meat oxidation processes. Nonetheless, it can be concluded that fresh poultry meat protected with the bionanocomposites presented an extension of its shelf-life time, and it was confirmed that this eco-friendly packaging has potential to be employed by the food industry.Funding: This work was supported by the MEtRICs unit, which is financed by national funds from FCT/MCTES (UIDB/04077/2020 and UIDP/04077/2020). This work was also supported by the Associate Laboratory for Green Chemistry—LAQV, and by the CQE unit, which is financed by national funds from FCT/MCTES (UIDB/50006/2020 and UIDP/50006/2020), and from UIDB/00100/2020 and UIDP/00100/2020, respectively. The authors also acknowledge FCT/MCTES for funding João Pires’s Ph.D. fellowship (SFRH/BD/144346/2019), Carolina Rodrigues’s Ph.D. fellowship (2020.04441.BD) and Cássia H. Barbosa’s Ph.D. fellowship (2021.08154.BD). MMA thanks the Instituto Superior Técnico for the Scientific Employment contract (contract No: IST-ID/154/2018) under Decree-Law No. 57/2016 and 57/2017.info:eu-repo/semantics/publishedVersio
DIS3L2: Unveiling a New Player in Tumorigenesis, with a Key Role in Colorectal Cancer
Get PDFDIS3L2 is a 3’-5’ exoribonuclease that recognizes and degrades uridylated transcripts in an exosome-independent manner and participates in several RNA degradation pathways, such as the nonsense-mediated mRNA decay, or the surveillance of aberrant structured non-coding RNAs. Although some studies have linked DIS3L2 to tumorigenesis and cancer-related processes, its exact role in the development and progression of cancer has remained unclear since the discovery of DIS3L2's ribonuclease activity a decade ago. While some authors have reported evidence of a tumor suppressor role for this exoribonuclease, other studies have shown DIS3L2 as a driver of tumorigenesis. Although differences in tissue type and methodologic approaches may somewhat account for the opposing findings, a recent study from our group further supports a pro-tumorigenic role for DIS3L2, this time in promoting colorectal cancer (CRC) progression. Indeed, proper DIS3L2 expression was proven essential to maintain key tumorigenic properties in CRC cells, including cell proliferation and invasion. Here, we summarize the current state of knowledge regarding the impact of DIS3L2 in cancer, namely in colorectal cancer. The collected data unveils DIS3L2 as a novel putative therapeutic target in cancer that warrants further investigation.This work was supported by Instituto Nacional de Saúde Doutor Ricardo Jorge and Fundação para a Ciência e a Tecnologia (FCT) [UID/MULTI/04046/2019 Research Unit Grant (to BioISI)]. Juan F. García-Moreno was recipient of a fellowship from BioSys PhD programme (PD/BD/142898/2018)info:eu-repo/semantics/publishedVersio
Antioxidant and antimicrobial properties of PLA based active packaging with pomegranate peels and extract
Get PDFActive food packaging’ primary goal is to extend foodstuffs’ shelf life, through a dynamic and continuous
interaction between the package and the packaged food. In an emission active packaging, the objective
is the gradual release of antioxidant and/or antimicrobial compounds into the food surface, to delay the
natural foods’ degradation. The active compounds can be extracted from several sources, such as
aromatic plants, seaweeds, fruits by-products, among others. Since 50% of pomegranate is composed
by peels, and since it is mainly consumed in juice and jam form, pomegranate peels may represent a
considerable asset for the extraction of such compounds.
The principal objective of this work was to evaluate the antioxidant and antimicrobial properties of
polylactic-based active packaging incorporated with 3% (w/w) of pomegranate peels (PLA/3PP) and 3%
(w/w) of pomegranate peels extract (PLA/3PPE). For the in vitro antioxidant activity evaluation, 9.08 cm2
of films were immersed in the food simulator, ethanol 95% (v/v), at 40 °C for 10 days. Then, the DPPH
radical scavenging assay was performed, as well as the total content of phenolic compounds, total
content in flavonoids, content in punicalagin (A+B) and ellagic acid were determined. Also, to fully
determine the total content in punicalagin (A+B) and ellagic acid, the films were kept in methanol at 25
and 40 °C for 24 h. The antimicrobial activity of the films was evaluated with Listeria monocytogenes,
Staphylococcus aureus, Enterococcus faecalis, and Escherichia coli, in accordance with ISO
22196:2011.
Results showed that PLA/3PPE presented a higher antioxidant potential and higher content in phenolic
compounds and flavonoids. Only ellagic acid was detected in the active PLA-based films. Regarding the
antimicrobial activity, both films presented antimicrobial activity against S. aureus.Cássia H. Barbosa thanks the Fundação para a Ciência e Tecnologia (FCT), Portugal for the Ph.D. Grant 2021.08154.BD. This work was carried out under the MobFOOD Project (POCI-01-0247-FEDER-024524 and LISBOA-01-0247-FEDER-024524), funded by POCI (Operational Programme“Competitiveness and Internationalization”) and POR Lisboa (Lisbon Regional Operational Programme), through ANI, and by the Programa de Cooperación Interreg-A España–Portugal (POCTEP) 2014–2020 (project 0377_IBERPHENOL_6_E). 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 the grant UIDB/00211/2020).info:eu-repo/semantics/publishedVersio