Browsing by Issue Date, starting with "2018-05"
Now showing 1 - 10 of 100
Results Per Page
Sort Options
- Influence of processing conditions on 4-hydroxy-2-alkenals occurrence in edible oilsPublication . Albuquerque, T.G.; Oliveira, M.B.P.P.; Costa, H.S.Introduction: 4-hydroxy-2-alkenals, namely 4-hydroxy-2-nonenal (HNE) and 4-hydroxy-2-hexenal (HHE) are secondary lipid oxidation products of n-6 and n-3 polyunsaturated fatty acids, respectively. During the last years, an increased attention is being paid to these mutagenic, cytotoxic and genotoxic compounds. Edible oils were identified as one of the major sources of these compounds, becoming a potential toxicological concern for public health. Aims: To evaluate the occurrence of 4-hydroxy-2-alkenals in different edible oils and to study the influence of processing conditions on the amounts of HNE and HHE of the selected edible oils. Methodology: A literature review on the presence of HNE and HHE in corn, sesame, soybean and sunflower oils was performed. Afterwards, the reported fatty acids composition, as well as, time and temperature of frying were evaluated to establish a relationship with the presence of these hazardous compounds in edible oils. Results and Conclusions: A great variability was observed on HNE for the same type of oil from different geographical origins. The highest amount of HNE was observed for crude soybean oil (644.2 mg/kg), which decreased after refining (260 mg/kg). For extra-virgin olive oil submitted to 180 °C for 7 h, HNE was not detected; while for the same conditions applied to corn oil, soybean and sunflower oils, HNE content was 2.59, 2.87 and 3.30 mg/kg, respectively. In the near future, it is important to exploit other conditions to explain the different amounts of HNE reported for the same type of edible oil from different origins, as well as to evaluate the effect of different frying equipment’s and frying conditions with different foods.
- How to: Surveillance of Clostridium difficile infectionsPublication . Krutova, M.; Kinross, P.; Barbut, F.; Hajdu, A.; Wilcox, M.H.; Kuijper, E.J.; The survey contributorsBackground: The increasing incidence of Clostridium difficile infections (CDI) in healthcare settings in Europe since 2003 has affected both patients and healthcare systems. The implementation of effective CDI surveillance is key to enable monitoring of the occurrence and spread of C. difficile in healthcare and the timely detection of outbreaks. Aims: The aim of this review is to provide a summary of key components of effective CDI surveillance and to provide some practical recommendations. We also summarize the recent and current national CDI surveillance activities, to illustrate strengths and weaknesses of CDI surveillance in Europe. Sources: For the definition of key components of CDI surveillance, we consulted the current European Society of Clinical Microbiology and Infectious Diseases (ESCMID) CDI-related guidance documents and the European Centre for Disease Prevention and Control (ECDC) protocol for CDI surveillance in acute care hospitals. To summarize the recent and current national CDI surveillance activities, we discussed international multicentre CDI surveillance studies performed in 2005e13. In 2017, we also performed a new survey of existing CDI surveillance systems in 33 European countries. Content: Key components for CDI surveillance are appropriate case definitions of CDI, standardized CDI diagnostics, agreement on CDI case origin definition, and the presentation of CDI rates with well-defined numerators and denominators. Incorporation of microbiological data is required to provide information on prevailing PCR ribotypes and antimicrobial susceptibility to first-line CDI treatment drugs. In 2017, 20 European countries had a national CDI surveillance system and 21 countries participated in ECDCcoordinated CDI surveillance. Since 2014, the number of centres with capacity for C. difficile typing has increased to 35 reference or central laboratories in 26 European countries. Implications: Incidence rates of CDI, obtained from a standardized CDI surveillance system, can be used as an important quality indicator of healthcare at hospital as well as country level.
- Regulation of the Alternative Splicing of Tumor-Related RAC1b by Signal Transduction PathwaysPublication . Gonçalves, Vânia; Matos, Paulo; Pereira, Joana; Henriques, Andreia; Jordan, PeterIntroduction; In colon cancer distinct genetic subtypes have been described, one of which involves overexpression of RAC1b, a variant generated by alternative splicing. Aberrant splicing is known to occur in cancer and can be caused by mutation in a gene or splicing factor but also represents a dynamic response to oncogene-induced cellular signaling and in this case it may be pharmacologically targeted. Here we explore how signaling pathways are involved in the deregulation of alternative RAC1b splicing in colorectal tumor cells.
- Adaptation of ACMG/AMP guidelines for variant interpretation in familial hypercholesterolemia – a ClinGen FH Expert Panel pilot studyPublication . Chora, Joana; A. Iacocca, Michael; Lisa Kurtz, C; Carrie, Alain; Tichy, Lukas; E. Leigh, Sarah; T. DiStefano, Marina; Defesche, Joep; J. Sijbrands, Eric; Freiberger, Tomas; A. Hegele, Robert; W. Knowles, Joshua; Bourbon, MafaldaFamilial hypercholesterolemia (FH) is an autosomal dominant disorder of lipid metabolism associated with premature atherosclerosis and increased cardiovascular risk. Over 3,000 variants in LDLR, APOB, and PCSK9 have been identified in FH patients; however, <10% of these have been functionally proven to cause disease. The recent ACMG/AMP guidelines for standardized variant interpretation in Mendelian disorders are being used to help further classify FH-associated variants. Despite such efforts, these existing ACMG/AMP guidelines need to be modified to become more disease-specific for FH. In 2016, the Clinical Genome Resource (ClinGen) consortium FH Expert Panel was created with the goal to develop FH-specific variant interpretation guidelines
- Caracterização fenotípica de isolados de Shigella spp. entre 2015 e 2017Publication . Silveira, Leonor; Pista, Ângela; Machado, JorgeEm Portugal, a shigelose é uma gastroenterite pouco frequente. Com este estudo pretendeu-se descrever os serotipos de Shigella spp. identificados no Laboratório Nacional de Referência de Infeções Gastrintestinais do Instituto Nacional de Saúde Doutor Ricardo Jorge (INSA) entre 2015 e 2017. Foram analisadas estirpes isoladas de 53 doentes, que foram enviadas a nível nacional ao INSA para serotipagem. A suscetibilidade aos antimicrobianos foi realizada segundo as recomendações do European Committee on Antimicrobial Susceptibility Testing (EUCAST). Os serotipos mais frequentemente encontrados foram Sh. sonnei (n=37; 69,8%), Sh. flexneri 2 (n=7; 13,2%), Sh. flexneri 3 (n=3; 5,7%). Foi observada uma elevada percentagem de resistência à tetraciclina (47/53; 88,7%). Em 2017, todas as estirpes apresentaram resistência à ampicilina e a percentagem de estirpes com resistência à ciprofloxacina aumentou consideravelmente, de 5,0% em 2015 para 62,5% em 2017. Cerca de 50% das estirpes apresentaram resistência à azitromicina durante o período em análise. Foram detetados 4 casos de Shigella spp. multirresistentes em homens que fazem sexo com homens (HSH). O aumento de resistências aos antibióticos observados nestes dois anos alerta para a importância de uma vigilância ativa das mesmas e impõe uma articulação efetiva entre os diversos serviços de saúde envolvidos.
- Leptospirosis in Portugal: a retrospective study from 2012 to 2017Publication . Soeiro, Sofia; Matos, Rita; Santos, João; Manita, Carla; Martins, Helena CortesIntroduction: Leptospirosis is a zoonotic disease caused by spirochete bacteria of the genus Leptospira. There are 10 pathogenic species, and more than 250 pathogenic serovars. Humans and animals are infected with Leptospira through direct contact with the urine of an infected animal or indirectly by environmental contamination such as soil and water. Transmission occurs through mucous membranes, conjunctiva and skin cuts or abrasions. Leptospirosis ranges in severity from a mild, self-limited febrile illness to a fulminant life-threatening illness. The disease is widely spread all over the world, with a higher incidence in the tropical areas of the globe. Leptospirosis is a nationally notified disease, and 176 cases were declared during the 2012-2015 period, with a higher incidence on adult men. The aim of this study is to present an overview of cases observed during the past 6 years (2012-2017) in a convenience sample of the Portuguese population.
- RiskBenefit4EU – Workshop on risk-benefit assessment of foods: book of abstractsPublication . Assunção, Ricardo; Martins, Carla; Alvito, PaulaThis Workshop aims to gather researchers, academia, and industry and health professionals to discuss the latest updates related to risk-benefit assessment of foods and its importance for food safety and nutrition. It includes two days sessions with keynote lectures given by renowned scholars on the area of food safety, risk assessment and riskbenefit assessment providing a scenario of national and international ongoing activities on these areas. A videoconference with the European Food and Safety Authority (EFSA) will also promote the discussion on these issues. The balance between risks and benefits is of interest to food authorities developing food policy and consumer advice, to business developing new food products, and to consumers considering dietary changes. This workshop is organized within the EFSA Partnering Grant Project RiskBenefit4EU “Partnering to strengthen the Risk Benefit Assessment within EU using a holistic approach” (GP/EFSA/AFSCO/2017/01-GA02), coordinated by INSA. It aims to strengthen the EU capacity to perform risk-benefit assessment of foods.
- Biochemical and molecular characterisation of the dyslipidaemia in PortugalPublication . Costa, Cibelle Neiva Cavalcanti Mariano da; Bourbon, Mafalda; Antunes, MaríliaABSTRACT: Dyslipidaemia is one of the major modifiable independent risk factors for cardiovascular disease (CVD), with both genetic and environmental determinants. Although genetic risk factors are considered as non-modifiable, their CVD-associated risk can be prevented if early identified. The correct and early identification of dyslipidaemia is important for a better patient management and could definitely contribute to CVD prevention. This thesis intended the most complete characterisation of the dyslipidaemia in the Portuguese population, both biochemically and molecularly. Reference values based on population-specific percentiles for lipid and lipoprotein biomarkers were provided for the first time in the Portuguese population, namely total cholesterol, low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), triglycerides (TG), apolipoprotein A1 (apoA1), apolipoprotein B (apoB), small, dense LDL-C (sdLDL-C), lipoprotein(a) [Lp(a)], as well apoB/apoA1 and sdLDL-C/LDL-C ratios, and non-HDL-C and remnant cholesterol. To our knowledge, the sdLDL-C percentiles were the first to be established in an European population. The percentiles were estimated through a rigorous methodology and compared with other population percentiles by a very visual and feasible method, showing relevant differences. These newly determined reference values for lipid biomarkers were then used to characterise the dyslipidaemia in our population, and can now be used in the clinic for a better patient care and management. More than cholesterol per se, our study highlighted apoB and sdLDL-C as important biomarkers to be used in dyslipidaemia evaluation. Individuals presenting extreme phenotypes were further investigated to assess possible monogenic causes, and three individuals were found to have familial hypercholesterolemia (FH), the most common genetic dyslipidaemia and one of the most common disorders that confer an increased cardiovascular risk. Finally, in an attempt to explore the causes for the FH phenotype, a polygenic risk score was validated for the first time in the Portuguese population. A total of 289 index cases were identified with monogenic FH and other causes for their dyslipidaemia, and also 100 were identified with polygenic hypercholesterolaemia, representing 53.21% of the cohort. From the monogenic causes, 91.35% have a mutation in LDLR, 4.84% in APOB, 1.04% in PCSK9 and 2.08% had mutations in phenocopies genes (LIPA, APOE, ALB), suggesting that all those monogenic and polygenic causes should be always investigated for a better patient identification. This study provided the most complete characterisation of the dyslipidaemia in the Portuguese population, and important evidences for dyslipidaemia evaluation has been produced. The results obtained have application, not only for Portugal or a south European populations, but also might have an worldwide utility for the dyslipidaemia assessment. Together, the results obtained provide useful information on an important cardiovascular risk factor and should help to tackle and identify at risk situations that need urgent measures.
- Investigação laboratorial de surtos de toxinfeção alimentar, 2016Publication . Saraiva, Margarida; Correia, Cristina Belo; Cunha, Isabel Campos; Coelho, Anabela; Maia, Carla; Pena, Cláudia; Bonito, Conceição Costa; Flores, Cristina; Moura, Isabel Bastos; Sousa, Isabel; Barreira, Maria João; Toscano, Maria Manuel; Furtado, Rosália; Marcos, Silvia; Santos, Susana; Lopes, Teresa Teixeira; Calhau, Maria AntóniaO Instituto Nacional de Saúde Doutor Ricardo Jorge (INSA) em articulação com a Direção-Geral de Alimentação e Veterinária (DGAV), notifica anualmente à European Food Safety Authority (EFSA) os dados dos surtos de toxinfeção alimentar ocorridos em Portugal, cuja investigação laboratorial da área alimentar foi efetuada no INSA. A informação reunida, associada aos surtos de toxinfeção alimentar, permite a análise dos dados que incluem, entre outros, o número de surtos, de doentes, de hospitalizações que se verificaram e a caracterização dos agentes etiológicos, dos locais onde ocorreu a contaminação e/ou o consumo e os fatores que contribuíram para a ocorrência. De forma a tornar esta informação mais acessível à população portuguesa, o INSA, desde 2013, tem vindo a publicar anualmente os dados no Boletim Epidemiológico Observações. No ano de 2016, nos laboratórios de Microbiologia do Departamento de Alimentação e Nutrição (DAN) foram analisadas amostras de géneros alimentícios e/ou de superfícies colhidas no local de produção/distribuição alimentar, provenientes da investigação de 24 surtos, tendo sido comunicado que estes surtos afetaram 629 indivíduos, dos quais 80 foram hospitalizados, não tendo sido reportados óbitos. As instituições com residência foram o tipo de local onde ocorreram mais surtos, sendo identificados como principais fatores contributivos abusos de tempo/temperatura, ocorrência de contaminações cruzadas e o uso de matérias-primas não seguras.
- Colesterol total, nem oito(enta) nem (duzentos e) oitenta: Parte 1 – Defeitos da biossíntese do colesterolPublication . Cardoso, Maria Luís; Alves, Ana Catarina; Bourbon, MafaldaO colesterol é um componente importante das membranas celulares e da mielina, desempenhando também um papel essencial na embriogénese e desenvolvimento. As hipercolesterolemias, patologias frequentes e bastante conhecidas, têm vindo a ser alvo de atenção especial dado a sua relação com o aumento do risco cardiovascular. Pelo contrário, poucos estudos relatam as consequências por vezes dramáticas dos níveis baixos de colesterol para as células. O reconhecimento destas situações depende não só da clarificação dos limites inferiores da normalidade, dos níveis de colesterol total e lipoproteínas na população em estudo, mas também da identificação dos fenótipos (clínico e bioquímico) associados a concentrações muito baixas dos referidos parâmetros analíticos. Este artigo, é o primeiro de uma série de três, dedicados à classificação e diagnóstico de hipolipidemias, elaborados com o objetivo de favorecer o reconhecimento e diagnóstico destas doenças, e nele serão abordadas primariamente as patologias polimalformativas devidas a erros hereditários da biossíntese do colesterol; a segunda parte será dedicada às formas benignas e às hipolipidemias patológicas causadas por alterações do metabolismo das lipoproteínas e outras; finalmente na terceira parte serão abordadas as formas secundárias de hipolipidemia.