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  • Avaliação da época de vigilância ICARO - Mortalidade: 2018
    Publication . Silva, Susana Pereira; Torres, Ana Rita; Rodrigues, Ana Paula; Batista, Inês; Nunes, Baltazar; Neto, Mariana; Dias, Carlos Matias
    O sistema de vigilância ÍCARO está em funcionamento desde 1999 e tem como principal objetivo a deteção de períodos de calor extremo que, com base no cumprimento de um conjunto de critérios, são considerados como potenciadores de impactes na mortalidade da população portuguesa residente no continente. Em 2018 foram identificados dois períodos de calor extremo, e o objetivo do trabalho incluído no presente relatório foi estimar os excessos de mortalidade potencialmente associados ao calor pela análise da mortalidade nestes períodos de calor extremo. Para medir o impacte dos períodos de calor na mortalidade, foram usados dados diários de mortalidade provenientes do sistema VDM (Vigilância Diária da Mortalidade) comparando-se a mortalidade observada com a mortalidade esperada para um mesmo período caso não tivesse existido excesso de calor (diferença entre óbitos Observados e Esperados). O número de óbitos esperado foi estimado a partir de um método de regressão cíclica aplicado à série temporal de dados entre 01-10-2007 e 07-10-2018. Foram observados excessos de mortalidade para a globalidade dos dados de Portugal continental mas apenas no primeiro período identificado como de calor extremo pelo sistema ÍCARO.
    2019-01Report Restricted access Show more
  • Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a Cohort of 18 patients
    Publication . Nampoothiri, Sheela; Elcioglu, Nursel H.; Koca, Suleyman S.; Yesodharan, Dhanya; Kk, Chandrababu; Krishnan, Vinod; Bhat, Meenakshi; Nair K, Mohandas; Radhakrishnan, Natasha; Kappanayil, Mahesh; Sheth, Jayesh J.; Alves, Sandra; Coutinho, Francisca; Friez, Michael J.; Pauli, Richard M.; Unger, Sheila; Superti-Furga, Andrea; Leroy, Jules G.; Cathey, Sara S.
    Mucolipidosis-IIIγ (ML-IIIγ) is a recessively inherited slowly progressive skeletal dysplasia caused by mutations in GNPTG. We report the genetic and clinical findings in the largest cohort with ML-IIIγ so far: 18 affected individuals from 12 families including 12 patients from India, five from Turkey, and one from the USA. With consanguinity confirmed in eight of 12 families, molecular characterization showed that all affected patients had homozygous pathogenic GNPTG genotypes, underscoring the rarity of the disorder. Unlike ML-IIIαβ, which present with a broader spectrum of severity, the ML-III γ phenotype is milder, with onset in early school age, but nonetheless thus far considered phenotypically not differentiable from ML-IIIαβ. Evaluation of this cohort has yielded phenotypic findings including hypertrophy of the forearms and restricted supination as clues for ML-IIIγ, facilitating an earlier correct choice of genotype screening. Early identification of this disorder may help in offering a timely intervention for the relief of carpal tunnel syndrome, monitoring and surgery for cardiac valve involvement, and evaluation of the need for joint replacement. As this condition may be confused with rheumatoid arthritis, confirmation of diagnosis will prevent inappropriate use of immunosuppressants and disease-modifying agents.
    2019-01Journal article Restricted access Show more
  • Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting
    Publication . Chauhan, Ganesh; Adams, Hieab H.H.; Satizabal, Claudia L.; Bis, Joshua C.; Teumer, Alexander; Sargurupremraj, Muralidharan; Hofer, Edith; Trompet, Stella; Hilal, Saima; Smith, Albert Vernon; Jian, Xueqiu; Chen, Christopher; Cheng, Ching-Yu; Wong, Tien Y.; Ikram, Mohammad K.; van der Lee, Sven J.; Amin, Najaf; Chouraki, Vincent; DeStefano, Anita L.; Aparicio, Hugo J.; Romero, Jose R.; Sharma, Pankaj; Maillard, Pauline; DeCarli, Charles; Wardlaw, Joanna M.; Hernández, Maria del C. Valdés; Luciano, Michelle; Liewald, David; Deary, Ian J.; Starr, John M.; Bastin, Mark E.; Muñoz Maniega, Susana; Sudlow, Cathie L.M.; Slagboom, P. Eline; Beekman, Marian; Deelen, Joris; Uh, Hae-Won; Lemmens, Robin; Brodaty, Henry; Wright, Margaret J.; Ames, David; Boncoraglio, Giorgio B.; Hopewell, Jemma C.; Rosand, Jonathan; Beecham, Ashley H.; Blanton, Susan H.; Wright, Clinton B.; Sacco, Ralph L.; Wen, Wei; Thalamuthu, Anbupalam; Armstrong, Nicola J.; Chong, Elizabeth; Schofield, Peter R.; Kwok, John B.; Woo, Daniel; van der Grond, Jeroen; Stott, David J.; Ford, Ian; Jukema, J. Wouter; Vernooij, Meike W.; Hofman, Albert; Uitterlinden, André G.; van der Lugt, Aad; Wittfeld, Katharina; Grabe, Hans J.; Cole, John W.; Hosten, Norbert; von Sarnowski, Bettina; Völker, Uwe; Levi, Christopher; Jimenez-Conde, Jordi; Meschia, James F.; Slowik, Agnieszka; Thijs, Vincent; Lindgren, Arne; Melander, Olle; Malik, Rainer; Grewal, Raji P.; Rundek, Tatjana; Rexrode, Kathy; Rothwell, Peter M.; Arnett, Donna K.; Jern, Christina; Johnson, Julie A.; Benavente, Oscar R.; Wasssertheil-Smoller, Sylvia; Lee, Jin-Moo; Traylor, Matthew; Wong, Quenna; Mitchell, Braxton D.; Rich, Stephen S.; McArdle, Patrick F.; Geerlings, Mirjam I.; van der Graaf, Yolanda; de Bakker, Paul I.W.; Asselbergs, Folkert W.; Srikanth, Velandai; Thomson, Russell; Pulit, Sara L.; McWhirter, Rebekah; Moran, Chris; Callisaya, Michele; Phan, Thanh; Rutten-Jacobs, Loes C.A.; Bevan, Steve; Tzourio, Christophe; Mather, Karen A.; Sachdev, Perminder S.; van Duijn, Cornelia M.; Amouyel, Philippe; Worrall, Bradford B.; Dichgans, Martin; Kittner, Steven J.; Markus, Hugh S.; Ikram, Mohammad A.; Fornage, Myriam; Launer, Lenore J.; Seshadri, Sudha; Longstreth, W.T.; Debette, Stéphanie; Mazoyer, Bernard; Stroke Genetics Network; International Stroke Genetics Consortium; METASTROKE; Alzheimer’s Disease Genetics Consortium; Neurology Working Group of the Cohorts for Heart and Aging Research in Genomic Epidemiology Consortium; Zhu, Yi-Cheng; Kaffashian, Sara; Schilling, Sabrina; Beecham, Gary W.; Montine, Thomas J.; Schellenberg, Gerard D.; Kjartansson, Olafur; Guðnason, Vilmundur; Knopman, David S.; Griswold, Michael E.; Windham, B. Gwen; Gottesman, Rebecca F.; Mosley, Thomas H.; Schmidt, Reinhold; Saba, Yasaman; Schmidt, Helena; Takeuchi, Fumihiko; Yamaguchi, Shuhei; Nabika, Toru; Kato, Norihiro; Rajan, Kumar B.; Aggarwal, Neelum T.; De Jager, Philip L.; Evans, Denis A.; Psaty, Bruce M.; Rotter, Jerome I.; Rice, Kenneth; Lopez, Oscar L.; Liao, Jiemin
    Objective: To explore genetic and lifestyle risk factors of MRI-defined brain infarcts (BI) in large population-based cohorts. Methods: We performed meta-analyses of genome-wide association studies (GWAS) and examined associations of vascular risk factors and their genetic risk scores (GRS) with MRI-defined BI and a subset of BI, namely, small subcortical BI (SSBI), in 18 population-based cohorts (n = 20,949) from 5 ethnicities (3,726 with BI, 2,021 with SSBI). Top loci were followed up in 7 population-based cohorts (n = 6,862; 1,483 with BI, 630 with SBBI), and we tested associations with related phenotypes including ischemic stroke and pathologically defined BI. Results: The mean prevalence was 17.7% for BI and 10.5% for SSBI, steeply rising after age 65. Two loci showed genome-wide significant association with BI: FBN2, p = 1.77 × 10-8; and LINC00539/ZDHHC20, p = 5.82 × 10-9. Both have been associated with blood pressure (BP)-related phenotypes, but did not replicate in the smaller follow-up sample or show associations with related phenotypes. Age- and sex-adjusted associations with BI and SSBI were observed for BP traits (p value for BI, p [BI] = 9.38 × 10-25; p [SSBI] = 5.23 × 10-14 for hypertension), smoking (p [BI] = 4.4 × 10-10; p [SSBI] = 1.2 × 10-4), diabetes (p [BI] = 1.7 × 10-8; p [SSBI] = 2.8 × 10-3), previous cardiovascular disease (p [BI] = 1.0 × 10-18; p [SSBI] = 2.3 × 10-7), stroke (p [BI] = 3.9 × 10-69; p [SSBI] = 3.2 × 10-24), and MRI-defined white matter hyperintensity burden (p [BI] = 1.43 × 10-157; p [SSBI] = 3.16 × 10-106), but not with body mass index or cholesterol. GRS of BP traits were associated with BI and SSBI (p ≤ 0.0022), without indication of directional pleiotropy. Conclusion: In this multiethnic GWAS meta-analysis, including over 20,000 population-based participants, we identified genetic risk loci for BI requiring validation once additional large datasets become available. High BP, including genetically determined, was the most significant modifiable, causal risk factor for BI.
    2019-01Journal article Open access Show more
  • Mouse model of Schistosomiasis: infection with Schistosoma mansoni in CD-1 mice
    Publication . Luis, C.; Soares, R.; Fernandes, R.; Botelho, M.
    Schistosomiasis is a parasitic disease that affects almost 240 million worldwide. CD1 mice were infected with cercariae of S. mansoni, after which infection developed for 8 weeks. Tissues were processed to immuno-histological techniques. It was performed H&E staining for overall analyses, Sirius Red for fibrosis and immunohistochemistry for inflammation biomarkers. The most infected organ was the liver, fibrosis decreased with egg development and Galectin-3 (Gal3) and Interleukin 6 (IL-6) were expressed inside granulomas
    2019-01Conference object Open access Show more
  • Desigualdades socioeconómicas na distribuição da prevalência de anemia em Portugal em 2015
    Publication . Gomes, Catarina Isabel Samões; Nunes, Baltazar; Barreto, Marta
    Introdução: A anemia constitui um problema global de saúde pública, com significativas consequências adversas para a saúde e impacto negativo no desenvolvimento social e económico. Pretende-se com este estudo estimar a prevalência da anemia na população portuguesa de acordo com o nível socioeconómico e identificar fatores de risco. Metodologia: Foi realizado um estudo transversal exploratório-descritivo utilizando dados do I Inquérito Nacional de Saúde com Exame Físico (INSEF 2015), baseado numa amostra representativa de 4911 adultos residentes em Portugal com idades entre os 25 e 74 anos em 2015. Foi estimada a prevalência total de anemia e estratificada por variáveis de caracterização física, cultural e socioeconómica. A análise das desigualdades socioeconómicas e fatores de risco foi realizada através da estimativa de odds ratio com um intervalo de confiança de 95%. Resultados: A prevalência geral de anemia foi de 5,5% (IC95%: 4,7; 6,4). A anemia foi mais prevalente nas mulheres do que nos homens (7,8% vs. 3,1%), entre os participantes sem atividade profissional e com comorbidades crónicas. Foi identificado como fator de risco importante para a população feminina pertencer ao grupo etário entre os 35 e os 54 anos. Os fatores de risco para a população masculina incluem pertencer ao grupo etário entre os 65 e os 74 anos, sofrer de cancro e insuficiência renal crónica. Discussão e Conclusão: Embora a prevalência de anemia seja mais elevada em grupos socioeconomicamente mais desfavorecidos, a análise da associação entre os determinantes socioeconómicos e a prevalência de anemia não nos permite identificar os mesmos como fatores preditores da anemia. Estes resultados podem contribuir para o desenvolvimento ou manutenção de políticas e programas direcionados para reduzir as desigualdades em educação, rendimento e acesso aos serviços.
    2019-01Master thesis Restricted access Show more
  • Report of simultaneous measles outbreaks in two different health regions in Portugal, February to May 2017: lessons learnt and upcoming challenges
    Publication . Augusto, Gonçalo Figueiredo; Silva, Andreia; Pereira, Natália; Fernandes, Teresa; Leça, Ana; Valente, Paula; Calé, Etelvina; Aguiar, Bárbara Andreia; Martins, António; Palminha, Paula; Vinagre, Elsa; Cordeiro, Rita; Lopo, Sílvia; Nogueira, Paulo Jorge
    In Portugal, measles vaccination coverage and population immunity are high, and no endemic measles cases had been reported since 2004. The World Health Organization classified measles as eliminated in the country in 2015 and 2016, based on data from the previous 3 years. However, in a context of increasing incidence in several European countries in 2016 and 2017, Portugal experienced two simultaneous measles outbreaks with a total of 27 laboratory-confirmed cases (0.3 cases/100,000 population) in two health regions between February and May 2017. Nineteen cases (70.1%) were adults, of whom 12 were healthcare workers. Overall, 17 cases (63.0%) were not vaccinated, of whom five were infants younger than 12 months of age. One unvaccinated teenager died. Genotype B3 was identified in 14 cases from both regions. Measles virus sequencing identified different possible origins of the virus in each region affected. Although measles transmission was stopped in less than 2 months from the first case being notified, these outbreaks represent an opportunity to reinforce awareness of measles diagnosis. We highlight the intensity of the control measures taken and their impact on the rapid control of the outbreaks and also the fact that high vaccination coverage was crucial to stop transmission.
    2019-01Journal article Open access Show more
  • Newborn screening for homocystinurias: Recent recommendations versus current practice
    Publication . Keller, Rebecca; Chrastina, Petr; Pavlíková, Markéta; Gouveia, Sofía; Ribes, Antonia; Kölker, Stefan; Blom, Henk J.; Baumgartner, Matthias R.; Bártl, Josef; Dionisi‐Vici, Carlo; Gleich, Florian; Morris, Andrew A.; Kožich, Viktor; Huemer, Martina; Barić, Ivo; Ben‐Omran, Tawfeq; Blasco‐Alonso, Javier; Bueno Delgado, Maria A.; Carducci, Claudia; Cassanello, Michela; Cerone, Roberto; Couce, Maria Luz; Crushell, Ellen; Delgado Pecellin, Carmen; Dulin, Elena; Espada, Mercedes; Ferino, Giulio; Fingerhut, Ralph; Garcia Jimenez, Immaculada; Gonzalez Gallego, Immaculada; González‐Irazabal, Yolanda; Gramer, Gwendolyn; Juan Fita, Maria Jesus; Karg, Eszter; Klein, Jeanette; Konstantopoulou, Vassiliki; la Marca, Giancarlo; Leão Teles, Elisa; Leuzzi, Vincenzo; Lilliu, Franco; Lopez, Rosa Maria; Lund, Allan M.; Mayne, Philip; Meavilla, Silvia; Moat, Stuart J.; Okun, Jürgen G.; Pasquini, Elisabeta; Pedron‐Giner, Consuélo Carmen; Racz, Gabor Zoltan; Ruiz Gomez, Maria Angeles; Vilarinho, Laura; Yahyaoui, Raquel; Zerjav Tansek, Moja; Zetterström, Rolf H.; Zeyda, Maximilian
    Purpose: To assess how the current practice of newborn screening (NBS) for homocystinurias compares with published recommendations. Methods: Twenty-two of 32 NBS programmes from 18 countries screened for at least one form of homocystinuria. Centres provided pseudonymised NBS data from patients with cystathionine beta-synthase deficiency (CBSD, n = 19), methionine adenosyltransferase I/III deficiency (MATI/IIID, n = 28), combined remethylation disorder (cRMD, n = 56) and isolated remethylation disorder (iRMD), including methylenetetrahydrofolate reductase deficiency (MTHFRD) (n = 8). Markers and decision limits were converted to multiples of the median (MoM) to allow comparison between centres. Results: NBS programmes, algorithms and decision limits varied considerably. Only nine centres used the recommended second-tier marker total homocysteine (tHcy). The median decision limits of all centres were ≥ 2.35 for high and ≤ 0.44 MoM for low methionine, ≥ 1.95 for high and ≤ 0.47 MoM for low methionine/phenylalanine, ≥ 2.54 for high propionylcarnitine and ≥ 2.78 MoM for propionylcarnitine/acetylcarnitine. These decision limits alone had a 100%, 100%, 86% and 84% sensitivity for the detection of CBSD, MATI/IIID, iRMD and cRMD, respectively, but failed to detect six individuals with cRMD. To enhance sensitivity and decrease second-tier testing costs, we further adapted these decision limits using the data of 15 000 healthy newborns. Conclusions: Due to the favorable outcome of early treated patients, NBS for homocystinurias is recommended. To improve NBS, decision limits should be revised considering the population median. Relevant markers should be combined; use of the postanalytical tools offered by the CLIR project (Collaborative Laboratory Integrated Reports, which considers, for example, birth weight and gestational age) is recommended. tHcy and methylmalonic acid should be implemented as second-tier markers.
    2019-01Journal article Open access Show more
  • Genetics of the monogenic forms of dyslipidaemia
    Publication . Bourbon, Mafalda
    Familial hypercholesterolemia (FH) is an autosomal dominant disorder associated with high levels of LDL-c and premature CHD (pCHD). Identification of FH in pediatric age is essential for a timely diagnosis and management. This study aims to highlight the importance of FH diagnosis in children.
    2019-01Conference object Restricted access Show more
  • Measuring the impact of influenza vaccination programmes among the elderly population in Spain, the Netherlands and Portugal, 2015-2018
    Publication . Mazagatos, Clara; Machado, Ausenda; Dijkstra, Frederika; Kissling, Esther; Larrauri, Amparo; Kislaya, Irina; van Gageldonk-Lafeber, Rianne; Gherasim, Alin; Nunes, Baltazar; McDonald, Scott; Rose, Angie; Valenciano, Marta
    Measuring the number of influenza-associated events prevented by influenza vaccination among the elderly in the European Union would allow a better understanding of the overall impact of influenza vaccination programmes, particularly in seasons with low influenza vaccine effectiveness (IVE). This study measured the number of medically attended influenza-confirmed cases in primary care (MAICC) among those ≥65 years averted by influenza vaccination programmes in Spain (SP), the Netherlands (NL) and Portugal (PT), from 2015 to 2018.
    2019-01Conference object Restricted access Show more
  • Medication use in older patients and age-blind approach: narrative literature review (insufficient evidence on the efficacy and safety of drugs in older age, frequent use of PIMs and polypharmacy, and underuse of highly beneficial nonpharmacological strategies)
    Publication . Fialová, Daniela; Laffon, Blanca; Marinkovic, Valentina; Tasic, Ljiljana; Doro, Peter; Sóos, Gyongyver; Mota, Jorge; Dogan, Soner; Jovana, Brkic; Teixeira, João Paulo; Valdiglesias, Vanessa; Costa, Solange; EUROAGEISM H2020 project and WG1b group “Healthy clinical strategies for healthy aging” of the EU COST Action IS 1402
    Introduction: The importance of rational drug therapy is increasing with the aging of the population. Since one of the main reasons for inappropriate drug prescribing is also the “age-blind” approach, which results in ageist practices, this narrative literature review focuses on the description of the main barriers related to insufficient individualization of drug regimens associated with such age-blind approaches. Methodology: A narrative literature review using the PubMed, WoS, Embase, and Scopus databases was conducted by the EU COST Action IS1402. Experts in different scientific fields from six countries (the Czech Republic, Spain, Portugal, Hungary, Serbia, and Turkey) worked in four specific areas: (1) underrepresentation of older adults in clinical trials and clinical and ethical consequences; (2) insufficient consideration of age-related changes and geriatric frailty in the evaluation of the therapeutic value of drugs; (3) frequent prescribing of potentially inappropriate medications (PIMs); and (4) frequent underuse of highly beneficial nonpharmacological strategies (e.g., exercise). Results: Older patients are underrepresented in clinical trials. Therefore, rigorous observational geriatric research is needed in order to obtain evidence on the real efficacy and safety of frequently used drugs, and e.g. developed geriatric scales and frailty indexes for claims databases should help to stimulate such research. The use of PIMs, unfortunately, is still highly prevalent in Europe: 22.6% in community-dwelling older patients and 49.0% in institutionalized older adults. Specific tests to detect the majority of age-related pharmacological changes are usually not available in everyday clinical practice, which limits the estimation of drug risks and possibilities to individualize drug therapy in geriatric patients before drug prescription. Moreover, the role of some nonpharmacological strategies is highly underestimated in older adults in contrast to frequent use of polypharmacy. Among nonpharmacological strategies, particularly physical exercise was highly effective in reducing functional decline, frailty, and the risk of falls in the majority of clinical studies. Conclusion: Several regulatory and clinical barriers contribute to insufficient knowledge on the therapeutic value of drugs in older patients, age-blind approach, and inappropriate prescribing. New clinical and observational research is needed, including data on comprehensive geriatric assessment and frailty, to document the real efficacy and safety of frequently used medications.
    2019-01Journal article Restricted access Show more