Browsing by Issue Date, starting with "2018-07"
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- Upstream of precise disease models for better downstream decision makingPublication . Duarte, Ana; Moreira, Luciana; Ribeiro, Diogo; Bragança, José; Amaral, OlgaInborn errors of metabolism are a common cause of inherited diseases. Diseases of carbohydrate metabolism pathway include lysosomal storage diseases (LSDs), which are a significant subgroup with approximately 70 LSDs. Grouped according to their defective lysosomal proteins and pathways they are usually characterized by intralysosomal accumulation of substrate. Accumulation may occur at different levels in diverse types of cells, some of which are of difficult access. Patient, molecular, cell and tissue heterogeneity hinders the development of further therapeutic approaches. We are currently establishing human Induced Pluripotent Stem Cells (iPSCs) from fibroblasts of LSDs patients and controls. The use of disease-specific cell models, mimicking the cell-target of the specific disease, may help to appropriately study the pathogenesis as well as the therapeutics. Integrating new techniques in the work pipeline for the establishment of models may lead to more accurate models while ensuring the safeguard of the patient’s background. Advanced technologies like microarray and NGS profiling add to the traditional techniques such as Immunofluorescence, directed sequencing and conventional cytogenetics. As in the diagnosis process, we may better understand the prognosis, and contribute to cost avoidance, by combining genomic and protein profiling checkpoints in the cell-model establishment pipeline. The investment in the upstream checkpoints might prove to be helpful in ensuring the integrity of the cell models.
- Factors associated to repeated influenza vaccination in the Portuguese adults with chronic conditionsPublication . Machado, Ausenda; Kislaya, Irina; Santos, Ana João; Gaio, Vânia; Gil, Ana Paula; Barreto, Marta; Namorado, Sónia; Antunes, Liliana; Matias Dias, Carlos; Nunes, BaltazarIntroduction: Reduction of unfair differences in health between socioeconomic groups and countries constitutes an important public health challenge in the 21st century. To monitor progress on this goal, health inequalities are most frequently estimated based on self-reported data from population surveys. However, it has been shown that self-reported data on cardiovascular disease risk factors is prompt to reporting error. If errors occur more often in specific socioeconomic groups (due to under-diagnosis or lower literacy) they are likely to seriously bias health inequality estimates. This study aims at comparing measurement errors between socioeconomic categories in self-reported hypertension, and their consequences on health inequality estimates. Methods: We used data from the Portuguese National Health Examination Survey (INSEF), a cross-sectional nationwide study conducted in 2015 on a probabilistic sample (n=4911) of community-dwelling individuals aged between 25 and 74 years old. INSEF combines measured biochemical parameters and blood pressure with self-reported data. Self-reported hypertension was defined based on the question: “Do you have any of the following diseases or conditions: hypertension? (Yes/No)”. Examination-based hypertension was defined as having systolic blood pressure of at least 140 mmHg, or diastolic blood pressure of at least 90 mmHg, or using prescribed antihypertensive medication. Participants´ socioeconomic status was measured through the education level (no education/ 1st cycle of basic education, 2nd cycle of basic education, 3rd cycle of basic education, secondary education and higher education). Inequalities in hypertension between the highest and lowest socioeconomic status groups were measured using relative indexes of inequality (RII) and respective confidence intervals (CI 95%), estimated by Poisson regression. Estimates of inequalities were stratified by age and sex, using four population groups (male 25-49 years old, female 25-49 years old, male 50-75 years old, female 50-75 years old). Results: Hypertension was reported by 25.7% [CI 95%: 24.0 to 27.4] of participants, while 35.9% [CI 95%: 34.2 to 37.5] were considered to have hypertension according to examination-based data. The difference between examination-based and self-reported prevalence was 12.7pp for those with no education/ 1st cycle of basic education and 4.6pp for those with higher education. Similar educational gradients were observed for both self-reported (RII=1.87; CI 95%: 1.45 to 2.42) and examination-base (RII=1.91; CI 95%: 1.60 to 2.28) hypertension, with lowest prevalence of disease among the highly educated. Age- and sex-specific results showed considerable discrepancies in inequality indicators between self-reported and examination-based data. Namely, differences in estimated gradients were more pronounced among 25-49 years old males, with RII=0.67 (CI 95%: 0 .29 to 1.54) for self-reported and RII=1.90 (CI 95%: 1.22 to 2.96) for examination-based hypertension. In 25-49 years old females inequalities in self-reported hypertension were not statistically significant (RII=3.18; CI 95%: 0.94 to 10.73), while females with the lowest education were 4.35 (CI 95%: 2.60 to 7.27) times more likely to have examination-based hypertension then compared to the most educated. In 50-75 age group educational inequalities in self-reported hypertension were larger than in examination-based for both, male (RII=1.82 CI 95%: 1.25 to 2.69 vs. RII=1.40; CI 95%: 1.04 to 1.89) and female (RII=1.77; CI 95% 1.30 to 2.41 vs. RII=1.58; CI 95%: 1.22 to 2.04). Conclusions: Our results illustrated the significant effect of measurement error in self-reported hypertension on estimates of socioeconomic inequalities. Use of self-reported data led to underestimation of educational inequalities among young and middle-aged individuals and overestimation in older age groups. Inequality indicators derived from self-report should be interpreted with caution.
- Is melon seeds oil a source of phytosterols?Publication . Silva, M.A.; Albuquerque, T.G.; Alves, R.C.; Oliveira, M.B.P.P.; Costa, H.S.Melon (Cucumis melo L.) is an important horticultural crop across wide areas of the world. The melon by-products contain chemical compounds with great nutritional and functional potentials.
- Cancer, signaling and alternative splicingPublication . Gonçalves, Vânia; Matos, Paulo; Jordan, PeterAlternative splicing of precursor mRNA is an essential mechanism to increase the complexity of gene expression, and it plays an important role in cellular differentiation and organism development.
- Regulatory RNAs in Autism Spectrum DisorderPublication . Marques, Ana Rita; Martiniano, H.; Santos, J.X.; Vilela, J.; Asif, M.; Oliveira, G.; Enguita, F.J.; Romão, L.; Vicente, A.M.Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder: Characterized by deficits in social communication/interaction and by unusual repetitive and restricted behaviors and interests.
- The BIOMEX experiment on board the international space station: biomolegularand bio-geochemical changes of lichens exposed to space and to mars-like conditionsPublication . Noetzel, Rosa de la Torre; ortega, M.V.; Lopez Ramirez, M.R.; Miller, A.Z.; Bassyd, O.; Granja, C.; Cubero, B.; Jordao, Luisa; Martinez Friaso, J.; Rabbow, E.; Ott, S.; Sancho, L.G.; de Vera, J.P.Exploration of the solar system is a priority research area of the AstRoMap European Astrobiology Roadmap, focusing on several research topics, such as “Life and Habitability” andan other one is “Biomarkers for easy the detection of life”. Therefore, “space platforms and laboratories”, as the EXPOSE setup installed outside the ISS, are essential to gain more knowledge of spaceand planetary environments, which might be an essential basis for improvement of the robotic and human interplanetary exploration. At the exposure platform EXPOSE-R2 on the ISS (2014-2016), samples of the astrobiological model lichen Circinaria gyrosa, a specie which was exposed 18 months to space and simulated Mars-like conditions during the BIOMEX experiment (Biology and Mars Experiment, ESA), was investigated, to study Mars’ habitability and resistance to space conditions. The data obtained by this biomarker-study after being exposed to Marslike conditions will support the analysis of data obtained during future instrumental detection operations in future space missions on Mars (i.e. ExoMars or Mars 2020).
- Signal transduction- overview lecture 2Publication . Jordan, PeterOverview lecture about signal transduction.
- Tutorail on protein phosphorylationPublication . Jordan, Peter; Matos, PauloTopics: - In vitro protein kinase assays - Kinase-dead PK mutants - Pathway analysis by anti-phospho antibodies
- Glycosyl flavonoids from Salvia sclareoides: contribution to the development of a new functional foodPublication . Abraços, L.; Martins, A.; Neng, N.; Nogueira, J.M.F.; Serralheiro, M.L.; Batista, A.P.; Raymundo, A.; Sousa, I.; Albuquerque, T.G.; Costa, H.S.; Rauter, A.P.Salvia sclareoides is a plant of spontaneous Portuguese vegetation that has relevant properties, as part of its cholinergic action and in the prevention of the formation of amyloid plaques. Previous studies suggested [1,2] that this species of Salvia can be used as a functional food and also in the development of a food supplement in the context of the prevention and treatment of Alzheimer's disease. Sweet cookies were developed with different concentrations (2 % and 5 %) of S. sclareoides, previously ground for particle size reduction (2.00 mm). The nutritional composition was determined, namely: moisture content, ash, total protein, total fat, dietary fibre and salt [3]. The available carbohydrates and the energy value were obtained by calculation. Extracts were prepared from the dried aerial parts of the plant. Different extraction methodologies were used and the phenolic profile of each extract was determined by high performance liquid chromatography with diode array detection. The antioxidant and anticholinesterase activities of these extracts were also evaluated. The ethanol extract of S. sclareoides, with 2.00 mm grain size, presented the highest concentration of phenolic compounds (143.74 mg GAE/g dry extract) and antioxidant activity (68.45 %), while the aqueous extract showed the best anticholinesterase activity (30.86 %). The glycosylated flavonoids rutin and (7-O-glucosyl)luteolin are clearly the major constituents present in all extracts, along with epicatechin, ellagic acid and (7-O-glucosyl)naringenin.
- Autism Spectrum Disorder: modulation of genomic variant effects on brain structure and functionPublication . Vilela, Joana; Martiniano, Hugo; Marques, Ana Rita; Xavier Santos, João; Asif, Muhammad; Rasga, Célia; Oliveira, Guiomar; Vicente, Astrid M.The main objective of this work is to identify Single Nucleotide Variants (SNVs) that play a role in ASD etiology in neurotransmission and synaptic genes since there is strong genomic and functional evidence that these biological processes are altered in ASD.