Browsing by Author "Fernandes, Aida"
Now showing 1 - 10 of 13
Results Per Page
Sort Options
- Characterisation of respiratory disease during the 2010/2011 influenza winter season in Portugal: Contribute of the Laboratory Network for the Diagnosis of Influenza A(H1N1)2009 InfectionPublication . Pechirra, Pedro; Gonçalves, Paulo; Conde, Patrícia; Guiomar, Raquel; Duque, Vítor; Vaz, João; Ribeiro, Graça; Cabral, Rita; Mota Vieira, Luísa; Almeida Santos, Madalena; Silvestre, Maria José; Pimentel Couto, Ana Rita; Bruges Armas, Jacome; Castro, Ana Paula; Ramos, Maria Helena; Janeiro, André; Mimoso, Paula; Marcelino, Rute; Fernandes, Aida; Milho, Luís; Rego, João; Beleza, Álvaro; Barreto, Maria do Rosário; Carvalho, Dinah; Ribeiro, Carlos Manuel; Fernandes, Paula; Andrade, Graça; Sobrinho Simões, Joana; Costa, Maria do Rosário; Guimarães, João Tiago; Corte Real, Rita; Branquinho, Paula; Caldeira, Filomena; Maurílio, Manuel
- Cross-protection to new drifted influenza A(H3) viruses and prevalence of protective antibodies to seasonal influenza, during 2014 in PortugalPublication . Guiomar, Raquel; Pereira da Silva, Susana; Conde, Patrícia; Cristóvão, Paula; Maia, Ana Carina; Pechirra, Pedro; Rodrigues, Ana Paula; Nunes, Baltazar; Milho, Luís; Coelho, Ana Paula; Fernandes, Aida; Caseiro, Paula; Rodrigues, Fernando; Correia, Lurdes; Pereira-Vaz, João; Almeida, Sofia; Branquinho, Paula; Côrte-Real, Rita; Viseu, Regina; Peres, Maria João; Sanches, Raquel; Dantas, Filipa; Freitas, Ludovina; Andrade, Graça; Maurílio, Manuel; Caldeira, Filomena; Cabral Veloso, Rita; Mota-Vieira, Luísa; Soares, Marta; Couto, Ana Rita; Bruges-Armas, Jácome; Mouro Pinto, Rita; Sobrinho Simões, Joana; Rosário Costa, Maria; Guimarães, João Tiago; Martins, Luís; Cunha, MárioIntroduction: Immune profile for influenza viruses is highly changeable over time. Serological studies can assess the prevalence of influenza, estimate the risk of infection, highlight asymptomatic infection rate and can also provide data on vaccine coverage. The aims of the study were to evaluate pre-existing cross-protection against influenza A(H3) drift viruses and to assess influenza immunity in the Portuguese population. Materials and methods: We developed a cross-sectional study based on a convenience sample of 626 sera collected during June 2014, covering all age groups, both gender and all administrative health regions of Portugal. Sera antibody titers for seasonal and new A(H3) drift influenza virus were evaluated by hemagglutination inhibition assay (HI). Seroprevalence to each seasonal influenza vaccine strain virus and to the new A(H3) drift circulating strain was estimated by age group, gender and region and compared with seasonal influenza-like illness (ILI) incidence rates before and after the study period. Results: Our findings suggest that seroprevalences of influenza A(H3) (39.9%; 95% CI: 36.2–43.8) and A(H1)pdm09 (29.7%; 95% CI: 26.3–33.4) antibodies were higher than for influenza B, in line with high ILI incidence rates for A(H3) followed by A(H1)pdm09, during 2013/2014 season. Low pre-existing crossprotection against new A(H3) drift viruses were observed in A(H3) seropositive individuals (46%). Both against influenza A(H1)pdm09 and A(H3) seroprotection was highest in younger than 14-years old. Protective antibodies against influenza B were highest in those older than 65 years old, especially for B/Yamagata lineage, 33.3% (95% CI: 25.7–41.9). Women showed a high seroprevalence to influenza, although without statistical significance, when compared to men. A significant decreasing trend in seroprotection from north to south regions of Portugal mainland was observed. Conclusions: Our results emphasize that low seroprotection increases the risk of influenza infection in the following winter season. Seroepidemiological studies can inform policy makers on the need for vaccination and additional preventive measures.
- Cross-protection to new drifted influenza A(H3) viruses and prevalence of protective antibodies to seasonal influenza, during 2014 in PortugalPublication . Guiomar, Raquel; Pereira da Silva, Susana; Conde, Patrícia; Cristóvão, Paula; Maia, Ana Carina; Pechirra, Pedro; Rodrigues, Ana Paula; Nunes, Baltazar; Milho, Luís; Coelho, Ana Paula; Fernandes, Aida; Caseiro, Paula; Rodrigues, Fernando; Correia, Lurdes; Pereira-Vaz, João; Almeida, Sofia; Branquinho, Paula; Côrte-Real, Rita; Viseu, Regina; Peres, Maria João; Sanches, Raquel; Dantas, Filipa; Freitas, Ludovina; Andrade, Graça; Maurílio, Manuel; Caldeira, Filomena; Cabral Veloso, Rita; Mota-Vieira, Luísa; Soares, Marta; Couto, Ana Rita; Bruges-Armas, Jácome; Mouro Pinto, Rita; Sobrinho Simões, Joana; Costa, Maria do Rosário; Guimarães, João Tiago; Martins, Luís; Cunha, MárioIntroduction: Immune profile for influenza viruses is highly changeable over time. Serological studies can assess the prevalence of influenza, estimate the risk of infection, highlight asymptomatic infection rate and can also provide data on vaccine coverage. The aims of the study were to evaluate pre-existing cross-protection against influenza A(H3) drift viruses and to assess influenza immunity in the Portuguese population. Materials and methods: We developed a cross-sectional study based on a convenience sample of 626 sera collected during June 2014, covering all age groups, both gender and all administrative health regions of Portugal. Sera antibody titers for seasonal and new A(H3) drift influenza virus were evaluated by hemagglutination inhibition assay (HI). Seroprevalence to each seasonal influenza vaccine strain virus and to the new A(H3) drift circulating strain was estimated by age group, gender and region and compared with seasonal influenza-like illness (ILI) incidence rates before and after the study period. Results: Our findings suggest that seroprevalences of influenza A(H3) (39.9%; 95% CI: 36.2-43.8) and A(H1)pdm09 (29.7%; 95% CI: 26.3-33.4) antibodies were higher than for influenza B, in line with high ILI incidence rates for A(H3) followed by A(H1)pdm09, during 2013/2014 season. Low pre-existing cross-protection against new A(H3) drift viruses were observed in A(H3) seropositive individuals (46%). Both against influenza A(H1)pdm09 and A(H3) seroprotection was highest in younger than 14-years old. Protective antibodies against influenza B were highest in those older than 65 years old, especially for B/ Yamagata lineage, 33.3% (95% CI: 25.7-41.9). Women showed a high seroprevalence to influenza, although without statistical significance, when compared to men. A significant decreasing trend in seroprotection from north to south regions of Portugal mainland was observed. Conclusions: Our results emphasize that low seroprotection increases the risk of influenza infection in the following winter season. Seroepidemiological studies can inform policy makers on the need for vaccination and additional preventive measures.
- Facts related to the collection of biological samples in the National Health Examination Survey - Portuguese Component of the European Health Examination SurveyPublication . Silva, Marta Barreto da; Francisco, Vânia; Rasteiro, Paula; Sousa, Eduardo; Vicente, A.M.; Bourbon, Mafalda; Martins, Fátima; Seixas, Maria Teresa; Fernandes, Aida; Beleza, Álvaro; Mendonça, Francisco; Gil, Ana Paula; Dias, Carlos MatiasThe objective of the National Health Examination Survey (NHES), which corresponds to the Portuguese component of the European Health Examination Survey (EHES), is to collect health data, related risk factors and biological samples of the Portuguese population, using the EHES recommended methodology. These surveys involve an interview, clinical and physical measurements and blood collection. In this context, we herein describe the pilot study performed in S. Brás de Alportel in the Algarve region. For this pilot study, we have recruited 221 individuals (95 males and 126 females), between 25 and 91 years old, who were enrolled in the Health Centre of S. Brás de Alportel (Algarve). For each participant, we have collected 16.5 ml of total blood, in five different Vacutainer® tubes, which was later processed into serum, plasma and DNA. We have performed several biochemical analyses(total cholesterol, LDL,HDL, glucose, tryglicerides, creatinine, ALT, AST, -GT, CRP and iron) and a complete blood count. From the 221 participants in this pilot study, we were able to collect blood to 219 (99.5%). To 185 of these (84.5%) we were able to collect the total amount of blood. The biochemical analyses were performed in all the samples. The total blood count was performed in 103 samples (47%) due to transport constraints. We have also collected DNA from 210 participants (95.9%). We have created a biobank comprising 1847 serum aliquots and 959 plasma aliquots, which have been stored at - 80°C and 210 DNA aliquots which have been stored at 4°C. In conclusion, during this study, we have optimized the logistics and procedures to perform the large scale study for the NHES and EHES. In addition, we have created a biobank comprising detailed questionnaire data, physical and clinical data and biological samples from a representative sample of S. Brás de Alportel in Algarve, Portugal. This biobank will allow us to perform future studies, including the determination of the prevalence of gene variants of public health interest, the characterization of gene-environment interactions in the development of chronic diseases and the genetic structure of the Portuguese population. The success rate, the quality of the data and of the biological samples was high and comparable to similar studies.
- Genetic variation at the CY2C19 gene associated with Metabolic Syndrome susceptibility in a South Portuguese populationPublication . Gaio, Vania; Nunes, Baltazar; Fernandes, Aida; Mendonça, Francisco; Horta Correia, Filomena; Beleza, Álvaro; Gil, Ana Paula; Bourbon, Mafalda; Vicente, A.M.; Dias, Carlos Matias; Barreto da Silva, MartaMetabolic syndrome (MetS) is a cluster of conditions — increased blood pressure, high blood glucose level, excess body fat around the waist and abnormal cholesterol levels — that occur together, increasing the risk of heart disease, stroke and diabetes. In Portugal, the MetS prevalence is estimated to be 27,5% with regional variations, being highest in the Alentejo (30,99%) and lowest in the Algarve (24,42%), constituting a public health problem. Although for clinical settings, a binary definition of MetS enabling a yes or no diagnosis is useful, it is clear that dichotomizing a continuous outcome variable reduces the statistical power of the MetS association studies. Therefore, the aim of the present study is to identify genetic risk factors involved in MetS etiology, using a continuous MetS score. To achieve our goal, a principal component analysis was performed to compute a score using the six normalized risk factors for MetS (waist circumference, diastolic and systolic blood pressure, glucose, triglycerides and HDL blood levels), with a higher MetS score indicating a less favorable MetS profile. After calculating this score, an association study was performed using 37 SNPs in candidate genes involved in MetS related diseases. A total of 206 subjects, including 119 women and 87 men (mean age: 56,31± 16,37 years, range: 26-91 years) were included in this analysis. We found 4 SNPs significantly associated with higher MetS scores (rs4244285 (CYP2C19), rs279871 (GABRA2), rs1647 (NPY) and rs1142345(TPMT)). P-values are 4,36x10-4, 1,3x10-2, 1,7x10-2 and 9,76x10-3 respectively. After correcting for multiple testing only rs4244285 (CYP2C19) remains significant (p=0,016). In addition, we have performed a multiple regression analysis considering the CYP2C19 genotype as the independent variable, adjusted for age. The resulting model explains 17% of the MetS score variance. After adding the remaining SNP genotypes that do not survive the multiple testing correction, the same model is able to explain 23,1% of the score. Our findings support the evidence of an association between CYP2C19 rs4244285 gene polymorphism and the MetS score, emphasizing the importance of lipid metabolism, thought cytochrome P450 enzymes, in the MetS etiology. However, further studies will be necessary to replicate these findings in different populations as well as functional studies to clarify the role of this variant in the etiology of MetS.
- Genetic variation at the CYP2C19 gene associated with metabolic syndrome susceptibility in a South Portuguese population: results from the pilot study of the European Health Examination Survey in PortugalPublication . Gaio, Vania; Nunes, Baltazar; Fernandes, Aida; Mendonça, Francisco; Horta Correia, Filomena; Beleza, Álvaro; Gil, Ana Paula; Bourbon, Mafalda; Vicente, A.M.; Matias Dias, Carlos; Barreto da Silva, MartaBACKGROUND: Metabolic syndrome (MetS) is a cluster of conditions that occur together, increasing the risk of heart disease, stroke and diabetes. Since pathways implicated in different diseases reveal surprising insights into shared genetic bases underlying apparently unrelated traits, we hypothesize that there are common genetic components involved in the clustering of MetS traits. With the aim of identifying these common genetic components, we have performed a genetic association study by integrating MetS traits in a continuous MetS score. METHODS: A cross-sectional study developed in the context of the Portuguese Component of the European Health Examination Survey (EHES) was used. Data was collected through a detailed questionnaire and physical examination. Blood samples were collected and biochemical analyses were performed. Waist circumference, blood pressure, glucose, triglycerides and high density lipoprotein cholesterol (HDL) levels were used to compute a continuous MetS score, obtained by Principal Component Analysis. A total of 37 single nucleotide polymorphisms (SNPs) were genotyped and individually tested for association with the score, adjusting for confounding variables. RESULTS: A total of 206 individuals were studied. Calculated MetS score increased progressively with increasing number of risk factors (P < 0.001). We found a significant association between CYP2C19 rs4244285 and the MetS score not detected using the MetS dichotomic approach. Individuals with the A allelic variant seem to be protected against MetS, displaying a lower MetS score (Mean difference: 0.847; 95%CI: 0.163-1.531; P = 0.015), after adjustment for age, gender, smoking status, excessive alcohol consumption and physical inactivity. An additive genetic effect of GABRA2 rs279871, NPY rs16147 and TPMT rs1142345 in the MetS score variation was also found. CONCLUSIONS: This is the first report of a genetic association study using a continuous MetS score. The significant association found between the CYP2C19 polymorphism and the MetS score but not with the individual associated traits, emphasizes the importance of lipid metabolism in a MetS common etiological pathway and consequently on the clustering of different cardiovascular risk factors. Despite the sample size limitation of our study, this strategy can be useful to find genetic factors involved in the etiology of other disorders that are defined in a dichotomized way.
- Influenza seroprotection correlates with predominant circulating viruses during 2014/15 and 2015/16 seasons in PortugalPublication . Guiomar, Raquel; Cristóvão, Paula; Conde, Patrícia; Costa, Inês; Pechirra, Pedro; Rodrigues, Ana Paula; Pereira da Silva, Susana; Nunes, Baltazar; Mouro Pinto, Rita; Sobrinho Simões, Joana; Costa, Maria do Rosário; Guimarães, João Tiago; Rodrigues, Fernando; Correia, Lurdes; Pereira-Vaz, João; Caseiro, Paula; Cabral Veloso, Rita; Mota Vieira, Luísa; Pimentel Couto, Ana Rita; Santos, Margarida; Bruges Armas, Jácome; Branquinho, Paula; Corte-Real, Rita; Martins, Luís; Cunha, Mário; Almeida, Sofia; Viseu, Regina; Inácio, Filipe; Peres, Maria João; Milho, Luís; Fernandes, Aida; Maurílio, Manuel; Caldeira, Filomena; Sanches, Raquel; Dantas, Filipa; Freitas, Ludivina; Andrade, Graça; Mota, PaulaBACKGROUND: Population immune profile for influenza is highly affected by circulating influenza viruses, thus changing the risk of infection for influenza. This study aims to assess influenza immunity in the Portuguese population by age groups, during 2014 and 2015 and establish a relationship between seroprotection and circulating influenza viruses in 2014/15 and 2015/16 seasons. METHODS: Two cross-sectional studies were developed based on a convenience serum sample collected in June 2014 (n=626) and July 2015 (n=675) in hospitals from mainland and Azores and Madeira.Serums equally represent all age groups. Antibody titers were evaluated by HI assay for strains recommended for seasonal influenza vaccine northern hemisphere,2014/15 and 2015/2016. Seroprevalences were estimated for each strain by age group and the association with seasonal cumulative influenza-like illness (ILI) rates for influenza virus during both seasons was analised. RESULTS: In June 2014 the highest seroprotection was observed for influenza A(H3) (39.0%; 95% CI: 36.2-43.8%) and A(H1)pdm09 (29.7; 95% CI: 26.3-33.4%), with higher levels in children 5-14 years old. In 2014/2015 a dominant circulation of influenza B/Yamagata was observed with high incidence rates in individuals under 65 years old, the ones that had lower seroprotection. Although before the start of the season high protection for A(H3) was observed, the circulation of the new drift A(H3) strains had gained an immunological advantage,in accordance with A(H3) elevated incidence rates observed during 2014/15. In July 2015 the highest seroprotection was observed for influenza B/ Yamagata (55.1%; 95% CI: 51.4-58.9%), 2.4 times the estimated 2014.This increase was even more pronounced in younger (≤ 4 years old), 6.3 times increase in 2015.This fact is in agreement with the predominant influenza B virus detected and the high ILI incidence rate observed in children during 2014/2015 epidemic. Seroprotection levels for influenza A in July 2015 were not significantly different from 2014.During 2015/16 season, influenza A(H1N1)pdm09 was predominant, with high incidence rate in < 65 year old. Influenza B/Victoria lineage,although detected at low levels increased in frequency, in agreement with the lowest level of seroprotection detected in the general population before the start of 2015/2016 season (21.8%; 95% CI: 18.7-24.0%). CONCLUSIONS There was a correlation between virus circulation, incidence rates for each age group and the previous seroprotection for seasonal influenza viruses.Our study highlights the value of measuring the serological profile for influenza to establishe risk groups for infection for which an increase preventive measures, including vaccination, should be fostered.
- Inquérito de Saúde com Exame Físico: resultados comparativos entre a doença autorreportada e o exame físicoPublication . Machado, Ausenda; Gil, Ana Paula; Silva, Marta Barreto; Paixão, Eleonora; Correia, Filomena Orta; Mendonça, Francisco; Fernandes, Aida; Beleza, Álvaro; Dias, Carlos Matias
- Pharmacogenetic Profile of a South Portuguese Population: Results from the Pilot Study of the European Health Examination Survey in PortugalPublication . Gaio, Vânia; Picanço, Isabel; Nunes, Baltazar; Fernandes, Aida; Mendonça, Francisco; Horta Correia, Filomena; Beleza, Álvaro; Gil, Ana Paula; Bourbon, Mafalda; Vicente, A.M.; Dias, Carlos Matias; Barreto da Silva, MartaBackground: The genetic inter-individual variability of drug response can lead to therapeutic failure or adverse drug reactions (ADRs). The aims of this study were to assess the pharmacogenetic profile of a South Portuguese population according to established dosing guidelines for commonly prescribed drugs and to compare it with that of previously genotyped populations. Methods: A cross-sectional study was developed in the context of the Portuguese Component of the European Health Examination Survey (EHES). A total of 47 pharmacogenetically relevant variants in 23 different genes were genotyped in 208 participants. Allelic and genotypic frequencies were calculated, and the pharmacogenetic profile of the participants was defined. A comparative analysis was conducted through electronic database search. Pairwise Fst calculations were performed to assess the genetic distance between populations. Results: We found a significant small differentiation between the Portuguese regional populations regarding CYP2C9 rs1057910, CYP2D6 rs3892097, MTHFR rs1801133 and F5 rs6025. When consid-ering 4 HapMap populations, ADH1B rs2066702, ADH1B rs1229984, NAT2 rs1799931 and VKORC1 rs9923231 displayed a significant population differentiation. We found that 18.9% of the participants are intermediate or poor metabolizers for at least 3 drugs simultaneously and that 84.6% of the participants have at least one therapeutic failure or ADR risk allele for the considered drugs. Conclusions: There is a high prevalence of risk alleles associated with an altered drug metabolism regarding drugs largely used by the South Portuguese population. This knowledge contributes to the prediction of their clinical efficacy and/or toxicity, optimizing therapeutic response while improving cost-effectiveness.
- Prevalence of alpha-1 antitrypsin deficiency and hereditary hemochromatosis gene mutations in Algarve, PortugalPublication . Barreto da Silva, Marta; Gaio, Vânia; Fernandes, Aida; Mendonça, Francisco; Horta Correia, Filomena; Beleza, Álvaro; Gil, Ana Paula; Bourbon, Mafalda; Vicente, A.M.; Dias, Carlos MatiasAlpha-1 antitrypsin (AAT) deficiency and hereditary hemochromatosis (HH) are two of the most fatal genetic disorders in adult life, affecting million individuals worldwide. They are often under-diagnosed conditions and diagnosis is only made when the patient is already in the advanced stages of damage. AAT deficiency results from mutations in one highly pleiomorphic gene located on chromosome 14, SERPINA 1, being Z and S mutations the most relevant clinically. These mutations will lead to an AAT deficit that compromises the lungs protection, originating emphysema, chronic bronchitis, asthma or even chronic obstructive pulmonary disease (COPD) and it is also strongly associated with various liver diseases. On the other hand, C282Y and H63D mutations in the HFE gene, located on chromosome 6, are reported to be mostly responsible for the iron accumulation in HH disorder, leading to severe damage in different organs. Disease manifestations include cirrhosis, hepatic fibrosis, diabetes mellitus, arthropathy and hepatocarcinoma. Given the insufficient population-based information about the prevalence of these gene variants in the Portuguese population, the aim of this study was to assess their frequency in a representative sample from São Brás de Alportel, in the South of Portugal. To achieve our goal, we have genotyped a total of 208 adult subjects, including 118 females and 90 males (mean age: 58 years, range: 26-91). Regarding AAT deficiency, we found 4,3% MZ, 0,5% SS and 15,4% MS genotypes. The calculated frequency for the Z allele was 2,2% (95% CI: 0-11,7%) and for the S allele was 8,2% (95% CI: 0-17,4%). About HH, we found 1,4% C282Y/H63D, 2,4% H63D/H63D, 5,8% C282Y/N and 23,6% H63D/N genotypes. Frequencies of C282Y and H63D alleles were 3,6% (95% CI: 0-13%) and 14,9% (95% CI: 6-23,8%), respectively. The observed allele frequencies were in Hardy-Weinberg Equilibrium and no association was found with related diseases likely due to the smaller sample available. Our findings show the highest prevalence of Z allele from SERPINA1 gene found, when compared to other populations. The remaining findings are in agreement with previously published studies. Future studies involving a larger sample size will be necessary to evaluate the penetrance of the studied gene mutations and to assess gene-environment interactions that influence disease risk, contributing to reduce the burden of these diseases which can have a great public health impact.