Browsing by Issue Date, starting with "2017-07"
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- Mutational analysis and genotype-phenotype relation in familial hypercholesterolemia: The SAFEHEART registryPublication . Bourbon, M.; Alves, A.C.; Alonso, R.; Mata, N.; Aguiar, P.; Padró, T.; Mata, P.Background and aims: Familial hypercholesterolemia (FH) is an autosomal dominant disease of cholesterol metabolism that confers an increased risk of premature atherosclerotic cardiovascular disease (ASCVD). Therefore, early identification and treatment of these patients can improve prognosis and reduce the burden of cardiovascular mortality. The aim of this work was to perform the mutational analysis of the SAFEHEART (Spanish Familial Hypercholesterolaemia Cohort Study) registry. Methods: The study recruited 2938 individuals with genetic diagnosis of FH belonging to 775 families. Statistical analysis was performed using SPSS v23. Results: A total of 194 variants have been detected in this study, 24 of them were never described before. About 88% of the patients have a pathogenic or likely pathogenic variant. Patients with null variants have a more severe phenotype than patients with defective variants, presenting with significantly higher levels of atherogenic particles (total cholesterol, LDL-cholesterol and apolipoprotein B). Conclusions: This study shows the molecular characteristics of the FH patients included in the SAFEHEART registry and the relationship with the phenotypic expression. The majority of the genetic variants are considered to be pathogenic or likely pathogenic, which confers a high level of confidence to the entry and follow-up data analysis performed with this registry concerning FH patients' prognosis, treatment and survival.
- Arsenic uptake by plant foods for human nutrition: current status and new perspectivesPublication . Castanheira, Isabel; Coelho, Inês; Gueifão, Sandra; Ventura, MartaArsenic (As), is a metalloid that can accumulate in water, plants and seafood to high levels. Depends on the chemical form it can pose a risk to human health. Inorganic arsenic (Asi) is considered a non-threshold carcinogen, and every exposure constitutes a risk. Monomethylarsonic acid (MMA) and dimethylarsinic acid (DMA) can be related with inorganic exposure and arsenobetaine (AsB) and arsenocholine (AsCh) are organic species with nontoxic effects associated. Speciation data is crucial to clarify the linkage between arsenic content and chronic diseases. A comprehensive dietary exposure assessment is required in particularly to infants and pregnant women. Fetal exposure to inorganic arsenic seems correlated with an increased risk of adverse health effects later in life. Recent advances in analytical procedures and the metrological principles applied for the identification of arsenic chemical species are discussed. HPLC-ICP-MS as the golden standard technique providing data to support a comprehensive dietary exposure assessment and to redefine risk assessment of (Asi), is presented. The contribution of Total Diet Studies as a harmonised methodology for food sampling and exposure assessment modelling to ensure comparability and consistency of arsenic data across countries is another aim of this presentation. Information about mitigation strategies to reduce exposure to arsenic is also highlighted.
- FRIESA (FRIo Extremo na SAúde) 2016/17 - Relatório do 2º inverno em fase pilotoPublication . Silva, Susana Pereira; Antunes, Liliana; Marques, Jorge; Antunes, Sílvia; Dias, Carlos Matias; Nunes, BaltazarEntre novembro de 2016 e março de 2017, ocorreram diversos períodos com temperaturas mínimas muito baixas, algumas até abaixo do percentil 1 considerando o período 1971/2000, que eram passíveis de infuenciar a mortalidade. De facto o sistema FRIESA, que visa identificar períodos com possíveis impactes na mortalidade (tendo em conta as temperaturas mínimas e a taxa de incidência da gripe), identificou em Lisboa 4 períodos e no Porto 5, sendo que em ambos os distritos ocorreram dias isolados com possíveis impactes.
- Potassium Food sources in Portuguese dietPublication . Nascimento, A.C.; Santiago, Susana; Coelho, Mariana; Calhau, M.A.Potassium is an essential nutrient involved in fluid, acid and electrolyte balance and is required for normal cellular function. Dietary deficiency of potassium is very uncommon due to its widespread occurrence in foods. Potassium is classified as a nutrient of public health concern, because its under consumption has been linked in scientific literature to adverse health outcomes. The aims of this study were to assess the potassium food sources and evaluated the Na/K ratio for the food groups under study. Samples were select according to the Total Diet Study (TDS), including core foods representing the overall diet of a population while covering specific foods containing high levels of chemical substances under review. Foods were collected according to a sampling plan, then were prepared as consumed and pooled before analysis. Analysed samples (111) were grouped according to food classification system FoodEx2 level 1: Composite dishes and soups; meat, eggs and dairy; fish and seafoods, vegetables, legumes and cereals; fruits and confectionery. Analyses were carried out in accordance with ISO standard 17025. Sodium and potassium levels were determined using an Inductively Couple Plasma Atomic Emission Spectrometry–ICP-OES. Sodium and potassium contents ranged from: 8.99-1476 mg/100g in dried figs and lupines and from 7.63-1583 mg/100g in lupines and fresh codfish, respectively. The ratio Na/K presented lower values in fruits in general, dried figs, raisins, unprocessed meat, vegetables and legumes. Higher values of Na/K ratio were found in lupines, ham, sausages, olives, squid, clams and cheese. Lowering the dietary sodium-potassium ratio by increasing the consumption of potassium-rich foods, like fruits in general, legumes and vegetables as shown in our results can be a useful component of dietary advice. Increases in dietary potassium have been shown to delay the incidence of hypertension. Also, potassium-rich foods in general presented lower amounts of sodium.
- HLA and age of onset in myasthenia gravisPublication . Santos, Ernestina; Bettencourt, Andreia; da Silva, Ana Martins; Boleixa, Daniela; Lopes, Dina; Brás, Sandra; Costa, Paulo Pinho E.; Lopes, Carlos; Gonçalves, Guilherme; Leite, Maria Isabel; da Silva, Berta MartinsThe aetiology of MG is unknown, but both genetic and environmental factors are important. Over the years association of MG with Human Leucocyte Antigens (HLA) has been described in different populations. We investigated a possible association between HLA-DRB1 alleles and age of onset in MG. One hundred and fourteen MG patients (82 females) and 282 control individuals (CP) were studied. Patients were classified according to the age of onset (early-onset <50, n = 74 and late-onset ≥ 50, n = 20). Patients with thymoma (n = 20) were analyzed separately. HLA-DRB1 and HLA-B*08 genotyping was performed using PCR-SSP methodology. HLA-DRB1*03 allele was overrepresented in the global MG. When the early-onset subgroup was considered, this association became even stronger. Regarding the late-onset subgroup, the frequency of HLA-DRB1*01 allele was higher than in the CP. For the thymoma subgroup, the HLA-DRB1*10 allele frequency was significantly higher when compared to the CP. These results have shown a strong association of HLA-DRB1*03 with MG, especially for EOMG also in our population. HLA-DRB1*01 was associated to LOMG suggesting that is a susceptibility factor for this subgroup of the disease. This study confirms a different genetic background of MG subgroups regarding age of onset.
- International Conference on Food Contaminants (ICFC 2017) : book of abstractsPublication . Abrunhosa, L.; Venâncio, A.; Alvito, PaulaThis conference follows the first ICFC, held in Lisbon, in 2015, which focused on the challenges in chemical mixtures. This second edition of ICFC is dedicated to present and discuss cutting-edge knowledge on climate changes and their impact on food safety issues. As accepted by the general scientific community, the global climate is changing, and Earth is becoming warmer. Climate change is also affecting the occurrence of food safety hazards at various stages of the food chain, from primary production to consumption. There are multiple pathways through which climate-related factors may impact food safety. The rising of CO2 levels is changing the temperature and precipitation patterns, increasing the frequency and intensity of extreme weather events. These changes are affecting the agricultural and animal production, the dissemination and incidence of crop diseases and pests, and the global food trade, in general.
- Diabetes: desigualdades socioeconómicas na população portuguesa em 2014Publication . Santos, Joana; Kislaya, Irina; Antunes, Liliana; Santos, Ana João; Rodrigues, Ana Paula; Neto, Mariana; Matias Dias, CarlosIntrodução: A diabetes é considerada um dos maiores problemas de saúde pública e está associada a fatores socioeconómicos. O objetivo deste estudo foi descrever as desigualdades socioeconómicas na distribuição da diabetes na população com idade igual ou superior a 25 anos, residente em Portugal em 2014. Material e Métodos: Foram analisados dados do Inquérito Nacional de Saúde de 2014, n = 16 786. Calcularam-se estimativas da prevalência da diabetes total e estratificada por variáveis de caracterização socioeconómica designadamente o nível de escolaridade e o rendimento. O grau de desigualdade socioeconómica foi estimado através do índice de concentração e do índice relativo de desigualdade. Resultados: A diabetes concentrou-se na população com menor nível de escolaridade (índice de concentração = -0,26) e nos quintis de menor rendimento (índice de concentração = -0,14). O índice relativo de desigualdade evidenciou menor desigualdade nos grupos com um maior nível de escolaridade (0,20; IC 95% = [0,12; 0,32]) e com maior rendimento (0,59; IC 95% = [0,48; 0,74]). Discussão: A distribuição da diabetes está associada ao nível educacional e ao rendimento. Estudos anteriores mostraram que, apesar do rendimento poder refletir o padrão de vida das pessoas, a educação reflete o contexto social imediato em que o individuo se integra e que contribui para adotar estilos de vida mais saudáveis. Ainda, o Serviço Nacional de Saúde, por ser universal e tendencialmente gratuito, pode ter contribuído para reduzir desigualdades no acesso à saúde por grupos de menor rendimento. Conclusão: Integrar a ‘Saúde em Todas as Políticas’ pode reduzir as desigualdades, nomeadamente através da melhoria do nível educacional da população e do desenvolvimento de ações que promovam a literacia em saúde.
- Patulin bioaccessibility in apple-based juices – characterization of degradation during human digestionPublication . Lopes, André; Martins, Carla; Assunção, Ricardo; Alvito, PaulaFood products could be contaminated in several ways. Chemical food contaminants as mycotoxins, which are secondary metabolites of fungi, can constitute a serious health problem considering their potential toxic effects. Warm temperatures and water activity are crucial for fungi development and mycotoxin production. Climate change may turn traditional temperate regions like Europe more liable to mycotoxins. Patulin (PAT), a mycotoxin that can promote health problems, is traditionally detected in apples and apple based foods, including those usually consumed by young children. Since the most frequent route for chemical food contaminants is ingestion, the impact of the digestion process on the availability of these compounds must be well characterized. The present study aimed to evaluate the impact of the digestion process on PAT bioaccessibility, using artificially contaminated apple-based juices (minimum 50% apple content). To attain this objective, human digestion was simulated in vitro (according to Minekus et al., 2014) and PAT bioaccessibility was characterized along the three different phases, Oral (O), Gastric (G) and Intestinal (I). PAT identification and quantification were performed according to Barreira et al (2010). At intestinal phase, clear juices showed lower PAT mean bioaccessibility values (32 ± 10.0 %) than cloudy (36 ± 10.2 %). The results also showed that the majority of PAT degradation mainly occur in intestinal phase (mean bioaccessibility: clear O 90%; G 91%; I 32%; cloudy O 72%; G 73%; I 36%). These preliminary results are the first ones describing PAT bioaccessibility along the digestion process, and highlight the need to perform further studies considering different fruit-based products potentially contaminated with PAT. In a risk assessment perspective, these results contribute to a more accurate risk assessment, taking into account the amount of contaminant that is available to be absorbed in the intestine.
- Incidental X Linked Findings A female fetus with a gain in the DMD genePublication . Marques, Bárbara; Serafim, Silvia; Pedro, Sónia; Ferreira, Cristina; Simão, Laurentino; Alves, Cristina; Viegas, Mónica; Silva, Marisa; Brito, Filomena; Amorim, Marta; Correia, Joaquim; Correia, HildebertoIn prenatal diagnosis, chromosomal microarray analysis (CMA) has not yet fully replaced conventional cytogenetic but has rapidly become the recommended genetic test in pregnancies with ultrasound abnormalities. This methodology allows the identification of pathogenic small copy number variation (CNVs) in 5-10% of pregnancies with ultrasound abnormalities and a normal karyotype, increasing the diagnostic yield. However, this increased resolution can also result in the detection of incidental findings. Here we report a fetus referred for prenatal diagnosis due to skeletal dysplasia. Affymetrix Cytoscan HD chromosome microarray analysis was performed and a 204 kb gain was detected at Xp21.1 region (chrX: 31993622_32191110 [GRCh37]) in a female fetus, encompassing the intron 44 of the DMD gene, for the largest gene transcript. Nevertheless, if we considered the smaller transcripts it encompasses exon 1. The gain was maternally inherited. The DMD gene is involved on Becker muscular dystrophy, Cardiomyopathy, dilated, 3B and Duchenne muscular dystrophy. Intron 44 is a preferential breakpoint in about 30% of all DMD deletions, being the DMD transcript NM_004006.2 responsible for dystrophin expression in the skeletal muscle.The FGFR3 gene sequencing revealed the presence of the c.1118A >G, p.Y373C mutation associated to Thanatophoric Dysplasia, type 1 (TD1) justifying the ultrasound abnormalities.With this case, we reinforce that the discovery of CNVs in prenatal CMA goes beyond the correlation with the CNV and the ultrasound abnormalities. Incidental findings can also have a larger impact to the family clinical managing, even if not for the ongoing pregnancy for the reproductive future of the couple.
- RPS6KA3 duplication in a male child with severe intellectual disabilityPublication . Serafim, Silvia; Marques, Bárbara; Ferreira, Cristina; Brito, Filomena; Silva, Marisa; Simão, Laurentino; Alves, Cristina; Pedro, Sónia; Sá, Joaquim; Correia, HildebertoRare inherited and de novo copy number variations (CNVs) are the cause of a variety of genetic disorders with intellectual disability (ID). Chromosomal microarray analysis (CMA) has been a rapid method to identify both large and small pathogenic genomic imbalances causing those disorders. The identification and classification of a CNV as pathogenic is not always easy to establish. If for deletions, or loss of function of specific genes, the likelihood of being causal is higher, for duplications, or overexpression for the same genes, the correlation is harder. Here we present a male child with severe ID and a family history with a female sibling presenting mild ID. Affymetrix Cytoscan HD CMA identified a gain of 530 Kb on Xp22.12 (chrX: 20016145_20546410 [GRCh37])) encompassing EIF1AX and RPS6KA3 genes. Inheritance was not yet possible to assess. Mutations in the RPS6KA3 gene causes Coffin-Lowry syndrome, a mental retardation syndrome with dysmorphic facial features and skeletal anomalies. X-linked mental retardation-19 is a nonsyndromic form of mild to moderate ID also caused by mutations in RPS6KA3. Carrier females may be mildly affected. This shows some phenotypic variability for the loss of function of this gene. Recently both familial and isolated cases have been reported with a duplication of the entire RPS6KA3 gene associated with mild to moderate ID. Those few cases suggest the increased dosage of this gene may be the cause for the ID in these patients and point to additional heterogenicity of genotype-phenotype of imbalances in this gene. The collection of more cases with duplication of RPS6KA3, as the one described herein, will help establish a better classification for those CNVs, finding the real burden on the patient’s phenotype, and delineating the subsequent genetic counseling for their families.