National Institute of Health Dr. Ricardo Jorge
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Exosomal microRNAs as possible biomarkers for a rare disease affecting lipids
No full textExosomes mediate the communication between cells and the characterization of their
content can provide important insights into health and disease. Their cargo includes
proteins, lipids and nucleic acids (including microRNAs (miRNAs)). miRNAs regulate
many cellular processes, including metabolism. (...)This work received financial support from PT national funds (FCT/MCTES,
Fundação para a Ciência e Tecnologia and Ministério da Ciência, Tecnologia e Ensino
Superior) through the project with the reference EXPL/BTM-TEC/1477/2021. We also
thank the project with the reference UIDB/00211/2020N/
Leukocyte Imbalances in Mucopolysaccharidoses Patients
Get PDF(This article belongs to the Special Issue Inherited Metabolic Disorders: From Bench to Bedside)Mucopolysaccharidoses (MPSs) are rare inherited lysosomal storage diseases (LSDs) caused by deficient activity in one of the enzymes responsible for glycosaminoglycans lysosomal degradation. MPS II is caused by pathogenic mutations in the IDS gene, leading to deficient activity of the enzyme iduronate-2-sulfatase, which causes dermatan and heparan sulfate storage in the lysosomes. In MPS VI, there is dermatan sulfate lysosomal accumulation due to pathogenic mutations in the ARSB gene, leading to arylsulfatase B deficiency. Alterations in the immune system of MPS mouse models have already been described, but data concerning MPSs patients is still scarce. Herein, we study different leukocyte populations in MPS II and VI disease patients. MPS VI, but not MPS II patients, have a decrease percentage of natural killer (NK) cells and monocytes when compared with controls. No alterations were identified in the percentage of T, invariant NKT, and B cells in both groups of MPS disease patients. However, we discovered alterations in the naïve versus memory status of both helper and cytotoxic T cells in MPS VI disease patients compared to control group. Indeed, MPS VI disease patients have a higher frequency of naïve T cells and, consequently, lower memory T cell frequency than control subjects. Altogether, these results reveal MPS VI disease-specific alterations in some leukocyte populations, suggesting that the type of substrate accumulated and/or enzyme deficiency in the lysosome may have a particular effect on the normal cellular composition of the immune system.This work was funded by National Funds through FCT—Fundação para a Ciência e a Tecnologia, I.P., under the project UIDB/04293/2020.info:eu-repo/semantics/publishedVersio
Hepatitis C Virus infection, iron metabolism, liver fibrosis and response to Direct Acting Antivirals (DAAs)
Get PDFIntroduction: Chronic Hepatitis C (CHC) is characterized by hepatic and extra-hepatic manifestation. Among hepatic manifestations, liver fibrosis is probably the most significant as it can lead to cirrhosis, hepatocellular carcinoma and death. Iron overload is one of the extra-hepatic manifestations induced by Hepatitis C Virus (HCV) infection and can induce fibrosis-promoting signals in the parenchymal and non-parenchymal cells, which accelerate disease progression and exacerbate liver pathology.
Aims: Evaluate the changes in iron metabolism induced by HCV elimination, the association of liver fibrosis with biochemical and genetic parameters of iron metabolism before and after DAAs treatment and baseline parameters that could predict the improvement of liver fibrosis after treatment.
Materials and Methods: 329 patients with CHC (age: 49.93 [45.57-50.28] years; 124 female and 205 male). 134 treated with DAAs with sustained response (age: 53.42 [51.47-55.36]; 58 female and 56 male).
Liver fibrosis stage was assessed by transient elastography using a Fibroscan and patients were divided in two groups (F1/2_mild and moderate fibrosis and F3/4_severe fibrosis and cirrhosis), biochemical parameters of iron metabolism (Total Iron_Fe, Total Iron Binding Capacity_TIBC, Transferrin Saturation_TS, Ferritin_FT, Haptoglobin_Hp) were evaluated by standard methods and genetic polymorphisms within Transferrin_TF HFE, Bone Morphogenetic Protein 2_BMP2, Hepcidin_HAMP and Ferroportin_SLC40A1 genes were analyzed by PCR, sequencing or NGS. Statistical analysis was performed using SPSS 26.0 for windows.
Results: Patients showed lower values of Fe, TS and FT and higher values of Hp after treatment.info:eu-repo/semantics/publishedVersio
Valorização de subprodutos: um contributo para a sustentabilidade alimentar e saúde pública
Get PDFArtigo de opinião sobre o aproveitamento de subprodutos, não só com o objetivo de contribuir para o desenvolvimento sustentável como também com a finalidade de valorizar estes subprodutos com perspetivas de ganhos em saúde pública, nomeadamente através da melhoria do perfil nutricional de alguns alimentos. Neste sentido o Instituto Nacional de Saúde Doutor Ricardo Jorge, através do seu Departamento de Alimentação e Nutrição, nomeadamente através do projeto de investigação “Valorisation of fruit by-products as multi-functional food ingredients and functional foods for diabetics – Food4DIAB”, tem vindo a desenvolver as suas atividades com o objetivo de responder à necessidade do mercado no que diz respeito a alimentos funcionais, especialmente com baixo índice glicémico e com perfil nutricional equilibrado, uma vez que estes alimentos terão alto teor de fibra, ácidos gordos insaturados e compostos bioativos, e desta forma contribuir para estratégias que previnam os principais problemas de saúde pública.No âmbito do projeto Valorização de subprodutos de frutos como ingredientes multifuncionais e alimentos funcionais para diabéticos – Food4DIAB, Refª: EXPL/BAA-AGR/1382/2021, financiado pela Fundação para a Ciência e a Tecnologia.info:eu-repo/semantics/publishedVersio
Analysis of total vitamin C, ascorbic acid and dehydroascorbic acid in red fruits and green leafy vegetables by HPLC-PDA
No full textAscorbic acid (AA), also known as vitamin C, is an essential micronutrient due to its role in human development and wellbeing since it has antioxidant properties and is involved in the production of proteins like collagen. [1] It has been associated with several health benefits: reduced risk of mortality, cardiovascular disease, different types of cancer, and respiratory and neurological issues. [2] Despite being mainly found in citrus species, AA also exists in other fruits and vegetables. This study aimed to assess the variability of vitamin C content in red fruits (strawberry, raspberry and blueberry) and green leafy vegetables (spinach and lettuce) from different brands and supermarkets, measuring total vitamin C, by high-performance liquid chromatography with photodiode array detection (HPLC-PDA), an extremely sensitive and validated method.
According to our results, brand B of strawberry was the richest in total vitamin C (51.3 mg/100 g) with 45 mg/100 g of AA and 6.27 mg/100 g of DHA, followed by brand A of raspberry (44.7 mg/100 g), being the majority AA. On the contrary, all brands of blueberry did not contain any form of vitamin C and brand B of lettuce had 5.01 mg/100 g of total vitamin C, reporting the lowest detectable value. Within the different brands, total vitamin C ranged between 37.4-51.3, 20.8-44.7, 5.01-5.13 and 10.1-12.4 mg/100 g for strawberry, raspberry, lettuce and spinach, respectively. Thus, red berries seem to have higher quantity of vitamin C than green leafy vegetables, except for blueberry. Differences between the same food of distinct brands can be justified due to cultivation practices, ripeness, environmental and soil conditions, as well as storage conditions since vitamin C is sensitive to heat, light, and oxygen. Furthermore, consulting Regulation Nº 1169/2011, which indicates 80 mg of vitamin C as daily reference dose for adults, consuming 1 portion (160 g) of brand B of strawberry will make you achieve 103% of the recommendation.
References: [1] Santos, K et al. (2022) Essential features for antioxidant capacity of ascorbic acid (vitamin C). J Mol Model., 28, 1-8; [2] Xu, K et al. (2022) Vitamin C intake and multiple health outcomes: an umbrella review of systematic reviews and meta-analyses. Int J Food Sci Nutr., 73, 588-599.This work was financially supported by INSA, I.P., under the project TradFRUIT (2012DAN668) and by European Union (FEDER funds through COMPETE), under the Partnership Agreement PT2020, and National Funds (FCT, Foundation for Science and Technology) through projects UIDB/50006/2020 and by AgriFood XXI I&D&I project (NORTE-01-0145-FEDER-000041) co-financed by European Regional Development Fund (ERDF), through the NORTE 2020 (Programa Operacional Regional do Norte 2014/2020).info:eu-repo/semantics/publishedVersio
External Quality Assessment in Laboratory Safety Area (PNAEQ-1S Segurança Laboratorial)
Get PDFIntroduction: The National External Quality Assessment Program (PNAEQ) provides tools for carrying out external quality assessment in Laboratory Safety area, since 2010. These tools have changed over the years, but all of them allow the identification of occurrences and/or critical points in the operation, installations or equipment, that could have impact on the safety of patients and workers, beyond prioritize the necessary improvement actions.
Aims: Presentation of data and methodology implemented in PNAEQ since 2010, for the External Quality Assessment (EQA) in Laboratory Safety area.info:eu-repo/semantics/publishedVersio
Are melon by-products a suitable source of nutrients and bioactive compounds for the development of functional foods?
No full textApresentação oral a convite.Today’s consumers are demanding for foods which not only have enhanced nutritional profile but also have health benefits, known as functional foods. By-products of the food and agricultural industries, such as peels and seeds of fruits, have been found to have additional uses, thereby solving waste problems, reducing environmental impacts, and increasing their commercial value. It is expected that the generated amounts of by-products will continue to significantly increase and the application of such by-products, as ingredients, for the development of functional foods will be, for sure, an excellent opportunity to valorise this waste and to promote sustainability. To valorise melon by-products, by using a sustainable approach, to further develop enriched and nutritional balanced functional foods (with low saturated fat, salt, and sugar content) that will contribute to the improvement of various public health challenges (type 2 diabetes, obesity, cardiovascular diseases, and hypertension). In 2022, melon by-products (seeds and peels) were collected directly from Portuguese producers. The melon peels were dehydrated (50 ºC, 10h) and the seeds were dried in an oven (50 ºC, 6h). Afterwards, samples were grinded to obtain melon peel flour (MPF) and melon seeds flour (MSF). The following components were analyzed: moisture, ash, protein, amino acids, fat, fatty acids, dietary fiber and vitamins. Then, a holistic approach considering the overall nutritional profile of the flours was performed to establish the best methodology for the design of healthy functional foods. Results are presented per 100 g of dry weight (dw).
The main component of both flours is dietary fiber (30.5 ± 0.4 and 42.3 ± 2.3 g/100 g dw for MSF and MPF, respectively). The MSF presented a higher content of protein (22.8 ± 0.7 g/100 g dw) and of total fat (30.5 ± 0.4 g/100 g dw), in comparison with MPF. Regarding vitamin E, the main vitamers for both flours were γ-tocopherol and α-tocopherol. According to nutrition claims, Regulation (EC) n.º 1924/2006, MSF is high in fiber, while MPF is high in fiber and low in fat. The dietary reference value for vitamin E intake, for adults, is 11 mg/day and 13 mg/day, for female and male, respectively. The analyzed flours can be considered a good source of this vitamin to accomplish the dietary recommendations.
Melon by-products are a valuable source of nutrients and bioactive compounds and this research contributes with scientific knowledge for the design of multi-functional ingredients, which can be further used to develop nutritious and healthy functional foods. These by-products have potential to globally improve food security, nutrition, and economic well-being.This work was financially supported by Foundation for Science and Technology (FCT) under the projects Food4DIAB (EXPL/BAA-AGR/1382/2021); and UIDB/50006/2020 and by AgriFood XXI I&D&I project (NORTE-01-0145-FEDER-000041) co-financed by European Regional Development Fund (ERDF), through the NORTE 2020 (Programa Operacional Regional do Norte 2014/2020).info:eu-repo/semantics/publishedVersio
Falls in children and young people up to 14 years old as an event observed in the EVITA system: 2022 data
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Molecular epidemiology of Clostridioides difficile in companion animals: Genetic overlap with human strains and public health concerns
Get PDFFront. Public Health, Sec. Infectious Diseases: Epidemiology and PreventionIntroduction: The changing epidemiology of Clostridioides difficile reflects a well-established and intricate community transmission network. With rising numbers of reported community-acquired infections, recent studies tried to identify the role played by non-human reservoirs in the pathogen's transmission chain. This study aimed at describing the C. difficile strains circulating in canine and feline populations, and to evaluate their genetic overlap with human strains to assess the possibility of interspecies transmission.
Methods: Fecal samples from dogs (n = 335) and cats (n = 140) were collected from two populations (group A and group B) in Portugal. C. difficile isolates were characterized for toxigenic profile and PCR-ribotyping. The presence of genetic determinants of antimicrobial resistance was assessed in all phenotypically resistant isolates. To evaluate the genetic overlap between companion animals and human isolates from Portugal, RT106 (n = 42) and RT014/020 (n = 41) strains from both sources were subjected to whole genome sequencing and integrated with previously sequenced RT106 (n = 43) and RT014/020 (n = 142) genomes from different countries. The genetic overlap was assessed based on core-single nucleotide polymorphism (SNP) using a threshold of 2 SNP.
Results: The overall positivity rate for C. difficile was 26% (76/292) in group A and 18.6% (34/183) in group B. Toxigenic strains accounted for 50% (38/76) and 52.9% (18/34) of animal carriage rates, respectively. The most prevalent ribotypes (RT) were the toxigenic RT106 and RT014/020, and the non-toxigenic RT010 and RT009. Antimicrobial resistance was found for clindamycin (27.9%), metronidazole (17.1%) and moxifloxacin (12.4%), associated with the presence of the ermB gene, the pCD-METRO plasmid and point mutations in the gyrA gene, respectively. Both RT106 and RT014/020 genetic analysis revealed several clusters integrating isolates from animal and human sources, supporting the possibility of clonal interspecies transmission or a shared environmental contamination source.
Discussion: This study shows that companion animals may constitute a source of infection of toxigenic and antimicrobial resistant human associated C. difficile isolates. Additionally, it contributes with important data on the genetic proximity between C. difficile isolates from both sources, adding new information to guide future work on the role of animal reservoirs in the establishment of community associated transmission networks and alerting for potential public health risk.his work was supported by funding from the European
Union’s Horizon 2020 Research and Innovation programme
under grant agreement No 773830: One Health European
Joint Programme, as part of FED-AMR project (JRP15-
R2-AMR2.2-FED-AMR). FA and RC were recipients
of fellowships from the same programme on behalf of
FED-AMR project. we thank CIISA and Fundação para a Ciência e Tecnologia
Project UIB/00276/2020 and LA/P/0059/2020–AL4animals for
the collaborationinfo:eu-repo/semantics/publishedVersio
Implementation of effect biomarkers in human biomonitoring studies: A systematic approach synergizing toxicological and epidemiological knowledge
Get PDFReviewHuman biomonitoring (HBM) studies have highlighted widespread daily exposure to environmental chemicals. Some of these are suspected to contribute to adverse health outcomes such as reproductive, neurological, and metabolic disorders, among other developmental and chronic impairments. One of the objectives of the H2020 European Human Biomonitoring Initiative (HBM4EU) was the development of informative effect biomarkers for application in a more systematic and harmonized way in large-scale European HBM studies. The inclusion of effect biomarkers would complement exposure data with mechanistically-based information on early and late adverse effects. For this purpose, a stepwise strategy was developed to identify and implement a panel of validated effect biomarkers in European HBM studies.
This work offers an overview of the complete procedure followed, from comprehensive literature search strategies, selection of criteria for effect biomarkers and their classification and prioritization, based on toxicological data and adverse outcomes, to pilot studies for their analytical, physiological, and epidemiological validation. We present the example of one study that demonstrated the mediating role of the effect biomarker status of brain-derived neurotrophic factor BDNF in the longitudinal association between infant bisphenol A (BPA) exposure and behavioral function in adolescence.
A panel of effect biomarkers has been implemented in the HBM4EU Aligned Studies as main outcomes, including traditional oxidative stress, reproductive, and thyroid hormone biomarkers. Novel biomarkers of effect, such as DNA methylation status of BDNF and kisspeptin (KISS) genes were also evaluated as molecular markers of neurological and reproductive health, respectively. A panel of effect biomarkers has also been applied in HBM4EU occupational studies, such as micronucleus analysis in lymphocytes and reticulocytes, whole blood comet assay, and malondialdehyde, 8-oxo-2′-deoxyguanosine and untargeted metabolomic profile in urine, to investigate, for example, biological changes in response to hexavalent chromium Cr(VI) exposure.
The use of effect biomarkers in HBM4EU has demonstrated their ability to detect early biological effects of chemical exposure and to identify subgroups that are at higher risk. The roadmap developed in HBM4EU confirms the utility of effect biomarkers, and support one of the main objectives of HBM research, which is to link exposure biomarkers to mechanistically validated effect and susceptibility biomarkers in order to better understand the public health implications of human exposure to environmental chemicals.Supported by the European Union's Horizon 2020 research and innovation program projects HBM4EU [grant number 733032]info:eu-repo/semantics/publishedVersio