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- Prevalência de factores de risco numa população jovemPublication . Alves, Ana CatarinaPalestra sobre a prevalência de factores de risco numa população jovem, proferida no âmbito do Estudo de Prevenção Cardiovascular nas Escolas.
- Associations between sarcoidosis clinical course and ANXA11 rs1049550 C/T, BTNL2 rs2076530 G/A, and HLA class I and II allelesPublication . Morais, A.; Lima, B.; Alves, H.; Melo, N.; Mota, P.C.; Marques, A.; Delgado, L.Background: A genetic background may be responsible for the different clinical courses in sarcoidosis. We analyzed associations between sarcoidosis clinical course and HLA class I/II alleles and susceptibility gene SNPs ANXA11 rs1049550 C/T and BTNL2 rs2076530 G/A in a Portuguese population, investigating possible gene–gene interactions. Methods: We studied 138 unrelated Caucasian sarcoidosis patients (78 women, 56.5%; mean age, 37.2 ± 12.1 years). Disease that persisted after 2 years was considered chronic. Samples were genotyped for ANXA11 rs1049550 C/T and BTNL2 rs2076530 G/A SNPs using TaqMan Real-Time PCR Assays. HLA class I/II alleles were typed using PCR sequence-specific primers. Results: Sixty-six patients experienced disease resolution and 72 (52%) developed chronic disease. Comparison of rs1049550 and rs2076530 allele frequencies showed no significant differences. Only the HLA DRB1*03 allele was significantly associated with disease resolution (21.2% vs 4.9% for chronic disease; RR = 0.35; P < .01 after Bonferroni correction). In the logistic regression models evaluating the association between HLA alleles and chronic sarcoidosis adjusted for rs1049550 and rs2076530, only DRB1*03 was significantly associated with disease resolution. No significant interactions were found in any of the logistic regression analyses. Conclusions: In this population of Caucasian patients with sarcoidosis, only DRB1*03 was associated with disease resolution after 2 years’ follow-up, with no significant interactions found for susceptibility gene SNPs ANXA11 rs1049550 or BTNL2 rs2076530.
- Risks for Aspergillus-Related Diseases: occupational exposure and diseasesPublication . Sabino, RaquelEnvironments with high levels of fungal particles are found in different occupational settings, and workers at these working places are at increased risk for occupational respiratory diseases. Fungal particles can include viable and non-viable spores or conidia, hyphal fragments, and even submicron fragments derived from the fungal cell wall. Mycotoxins and other volatile organic compounds should also be considered as potential hazards. Exposure to environmental fungi is associated with worsening asthma symptoms, lung function, hospital admissions, and asthma related deaths. Significant pulmonary pathology is associated with Aspergillus-induced allergic and asthmatic lung disease related to occupational exposure. Alergic bronchopulmonary aspergillosis (ABPA), rhinosinusitis, rhinitis, and severe asthma with fungal sensitisation (SAFS) are among the diseases more frequently associated with Aspergillus occupational exposure. Immunocompromised patients are at higher risk and may develop invasive infections. Aspergillus conidia can be found almost everywhere and are easily disseminated in the air. The size of the conidia is species dependent and Aspergillus conidia can colonize the entire respiratory tree. Aspergillus fumigatus is one of the species most frequently associated with respiratory symptoms due to the small size of the conidia and other virulence factors associated to this species. Nevertheless, fungi belonging to Nigri, Flavi, Circumdati and Versicolores sections must be considered in the risk assessment of a specific occupational environment since there are species that produce airborne mycotoxins within these species-complexes. Other issue of concern in specific occupational settings is the exposure to high levels of azole-resistant Aspergillus isolates, which may increase the risk of workers developing infections with difficult clinical management. During this presentation, we will review and discuss the most recent works related to Aspergillus occupational exposure, potential health effects related to that exposure and preventive or corrective measures suggested to avoid Aspergillus exposure in occupational environments.
- Patulin in fruit juices: occurrence, bioaccessibility and risk assessment for the Serbian populationPublication . Torović, Ljilja; Dimitrov, Nina; Lopes, André; Martins, Carla; Alvito, Paula; Assunção, RicardoThis paper reports the first study of patulin occurrence in fruit juices and risk assessment related to patulin intake by children, adolescents and adults in Serbia. During three consecutive years (2013-2015), 142 fruit (apple or multi-fruit) juices were collected from the market and analysed using HPLC-UV. Patulin was found in 51.4% of juices with 0.7% of the samples in excess of the legal limit of 50 μg kg−1 (mean 4.3 μg kg−1). Apple juices showed significantly higher percentage of contaminated samples (74.0% versus 27.5%), as well as higher mean patulin content (6.4 versus 2.1 μg kg−1) when compared with the multi-fruit ones. Bioaccessibility of patulin in fruit juices was studied using the standardized in vitrodigestion method. A mean of 21.6 % of the initial patulin amount reached the end of the intestinal phase showing a significant reduction of this toxin during the human digestion process. Risk assessment of patulin intake by Serbian children, adolescents and adults, conducted by deterministic and probabilistic approaches and including the bioaccessibility results, revealed no health concern. Although patulin alone does not represent risk, further research should consider its co-occurrence with other toxic substances in food and potential adverse effects of their mixtures.
- Biomarcadores cardiovasculares e da ingestão alimentar associados com a hipertensão arterial em diabéticos tipo 2Publication . Valente, A.; Bicho, M.; Duarte, R.; Raposo, J.F.; Costa, H.S.INTRODUÇÃO: A diabetes é um fator de risco da hipertensão arterial. Conhecer e relacionar os níveis plasmáticos de diversos biomarcadores pode contribuir para prevenir e controlar a hipertensão arterial em diabéticos tipo 2. OBJECTIVO: Avaliar uma possível associação entre os níveis plasmáticos de biomarcadores cardiovasculares, stress oxidante e da ingestão alimentar com a hipertensão arterial em diabéticos com e sem angiopatia. MÉTODOS: Estudo observacional analítico do tipo caso-controlo realizado em 300 adultos com idades entre 40-75 anos recrutados na Associação Protetora dos Diabéticos de Portugal e na Universidade Internacional para a Terceira Idade. Foram constituídos 3 grupos: GI - 75 diabéticos tipo 2 com angiopatia; GII - 75 diabéticos tipo 2 sem angiopatia; GIII - 150 controlos. Os níveis plasmáticos de biomarcadores cardiovasculares (homocisteína e cisteína), de stress oxidante (malondialdeído) e da ingestão alimentar (retinol, α-tocoferol, luteína, piridoxal-5-fosfato e ácido ascórbico) foram medidos por métodos validados de Cromatografia Líquida de Elevada Resolução. Os dados foram analisados em software informático para Windows, SPSS® através de correlações bivariadas de Spearman e pela análise de tabelas de contingência. RESULTADOS: A prevalência da hipertensão foi de 77% (GI), 64% (GII) e 37% (GIII). No GI, a frequência da presença de hipertensão arterial combinada com hiperhomocisteinémia (14,9%) ou com hipercisteinémia (62,2%) foi superior à observada nos outros grupos. Baixas concentrações plasmáticas de antioxidantes e de piridoxal-5-fosfato associadas à hipertensão arterial foram também mais prevalentes nos diabéticos com angiopatia do que nos diabéticos sem complicações. Foram observadas associações positivas da pressão arterial sistólica (PAS) com os níveis plasmáticos de homocisteína (r = 0,301; p<0,01), cisteína (r = 0,373; p<0,01), malondialdeído (r=0,237; p<0,01) e α-tocoferol (r = 0,119; p=0,042). Os biomarcadores da ingestão de frutos e legumes (ácido ascórbico: r = -0,189; p<0,01 e luteína: r= 0,291; p<0,01) foram inversamente associados com a PAS. CONCLUSÃO: Baixas concentrações plasmáticas de ácido ascórbico, luteína e de pirodoxal-5- fosfato e a elevação dos níveis de homocisteína, cisteína e malondialdeído em diabéticos tipo 2 hipertensos favorecem um ambiente de stress oxidante, algo que pode contribuir para o aparecimento e/ou progressão de complicações angiopáticas na diabetes tipo 2. A presença combinada de níveis inadequados de diversos biomarcadores deve ser considerada nas estratégias a adotar para controlar a hipertensão arterial em diabéticos tipo 2.
- External Quality Assessment in peripheral blood morphology - PNAEQ experiencePublication . Miranda, Armandina; Correia, Helena; Silva, Susana Pereira; Pereira, Edna; Cardoso, Ana; Silva, Cândido; Ismail, Sara; Barreira, Rui; Miranda, Ana; Batalha Reis, Ana; Faria, Ana PaulaPeripheral blood morphology is a very important tool for the clinical diagnosis in haematology disorders. The National External Quality Assessment Program (PNAEQ), aims to promote EQA programs, using Expert Working Groups as methodology (WG). The Haematology WG was formalized in 2013 and has the collaboration of national experts, namely from hospital and oncology entities, who voluntarily contribute with samples and case study selection, as well as in monitoring and evaluation of the results, aiming to a continuous improvement of participants' performance. The aim of this work was the evaluation of participating hospital and ambulatory laboratories performance, in the period between 2015 and 2017, regarding the identification of the morphological alterations and diagnostic hypothesis(1) for the peripheral blood smear sent.
- Optimizing Urine derived cells staining for the Human Micronucleus AssayPublication . Esteves, Filipa; Amaro, Raquel; Silva, Susana; Costa, Solange; Costa, Carla; Bolognesi, Claudia; Teixeira, João PauloEpidemiological studies commonly associate the incidence of cancers with the exposure to genotoxicants. This exposure may be analyzed using effect biomarkers allowing an early detection of health alterations. Micronucleus assay constitutes a useful tool to detect chromosomal damage, genomic instability and carcinogenic events. Cancers are usually from epithelial origin, and therefore micronucleus test (MN) in urine derived cells (UDC) assumes a great role on toxicological studies. Sampling of UDC is an easy and minimally invasive procedure, representing an advantage in human biomonitoring studies. The main concern related with UDC is the lack of standardization of MN protocol. Data show a large variability of the method, in particular what concerns to staining procedure, which may lead to bias. The use of different methodologies regarding MN in UDC may contribute to the large inter-laboratory variations and consequently for inconsistencies among studies. Aim: i) Select the most reliable method to stain UDC of those most commonly used - Giemsa and Feulgen. Giemsa - staining permits a quick preparation of slides for microscopic evaluation, however it is a non-DNA-specific stain which may favor false positive readings through the presence of other cellular structures (nonnuclear bodies, bacteria or keratohyalin granules). Feulgen - staining, although more time consuming, is a DNA specific stain which allows a good contrast between DNA material and cytoplasm; ii) Establish a detailed set of criteria for scoring all of the biomarkers in UDC; iii) Standardize the application of the mn assay in UDC.
- An integrative system biology approach to delineate complex genotype-phenotype associations in Autism Spectrum DisorderPublication . Asif, Muhammadutism Spectrum Disorder (ASD) is a neurodevelopmental disorder which affects the brain structure and the proper establishment of the neuronal connectivity.
- UHPLC-DAD Multi-Method for Determination of Phenolics in Aromatic PlantsPublication . Oliveira, Ana Sofia; Ribeiro-Santos, Regiane; Ramos, Fernando; Castilho, Maria Conceição; Sanches-Silva, AnaThe aim of this paper was to develop and validate a method of ultra high-performance liquid chromatography coupled with diode array detector (UHPLC-DAD), which allows quantifying simultaneously 19 phenolic compounds in aromatic plants. Twenty-one fresh and dried aromatic plants were extracted with methanol before their UHPLC-DAD analysis. The method was validated regarding specificity, working range, linearity, limit of detection (LOD) and quantification (LOQ), precision, and accuracy. The developed method allows detecting and quantifying the phenolic compounds at low concentrations (LOD < 0.15 μg/mL, except for carnosol and carnosic acid). The relative standard deviation obtained was lower than 5.73 and 8.75%, for repeatability and intermediate precision, respectively. The proposed method is straightforward and sensitive, with good precision and accuracy. Dried thyme presented the highest diversity of phenolic compounds and rosmarinic acid was present in most of the samples. This analytical tool is a valid alternative to conventional methods to quantify phenolic compounds in aromatic plants or in their extracts.
- Polimorfismos genéticos associados à hiperhomocisteinémia na diabetes tipo 2: contributo para a nutrigenéticaPublication . Bicho, M.; Valente, A.; Duarte, R.; Raposo, J.F.; Costa, H.S.Introdução: A hiperhomocisteinemia tem sido associada a polimorfismos genéticos das enzimas 5,10-metilenotetra-hidrofolato (MTHF) e cistatina-β-sintetase (CBS).