41 results on '"Couto, Ana Rita"'
Search Results
2. Corrigendum: Evidence for a genetic contribution to the ossification of spinal ligaments in ossification of posterior longitudinal ligament and diffuse idiopathic skeletal hyperostosis: a narrative review
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MS Radiotherapie, Cancer, Orthopaedie Opleiding, Couto, Ana Rita, Parreira, Bruna, Power, Deborah M, Pinheiro, Luís, Madruga Dias, João, Novofastovski, Irina, Eshed, Iris, Sarzi-Puttini, Piercarlo, Pappone, Nicola, Atzeni, Fabiola, Verlaan, Jorrit-Jan, Kuperus, Jonneke, Bieber, Amir, Ambrosino, Pasquale, Kiefer, David, Khan, Muhammad Asim, Mader, Reuven, Baraliakos, Xenofon, Bruges-Armas, Jácome, MS Radiotherapie, Cancer, Orthopaedie Opleiding, Couto, Ana Rita, Parreira, Bruna, Power, Deborah M, Pinheiro, Luís, Madruga Dias, João, Novofastovski, Irina, Eshed, Iris, Sarzi-Puttini, Piercarlo, Pappone, Nicola, Atzeni, Fabiola, Verlaan, Jorrit-Jan, Kuperus, Jonneke, Bieber, Amir, Ambrosino, Pasquale, Kiefer, David, Khan, Muhammad Asim, Mader, Reuven, Baraliakos, Xenofon, and Bruges-Armas, Jácome
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- 2024
3. Epidemiology and genetic variability of respiratory syncytial virus in Portugal, 2014–2018
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Sáez-López, Emma, Cristóvão, Paula, Costa, Inês, Pechirra, Pedro, Conde, Patrícia, Guiomar, Raquel, Peres, Maria João, Viseu, Regina, Lopes, Paulo, Soares, Vânia, Vale, Fátima, Fonseca, Patricia, Freitas, Ludivina, Alves, Jose, Pessanha, Maria Ana, Toscano, Cristina, Mota-Vieira, Luísa, Veloso, Rita Cabral, Côrte-Real, Rita, Branquinho, Paula, Pereira‑Vaz, João, Rodrigues, Fernando, Cunha, Mário, Martins, Luís, Mota, Paula, Couto, Ana Rita, Bruges-Armas, Jácome, Almeida, Sofia, and Rodrigues, Débora
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- 2019
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4. Cross-protection to new drifted influenza A(H3) viruses and prevalence of protective antibodies to seasonal influenza, during 2014 in Portugal
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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, Luisa, Soares, Marta, Couto, Ana Rita, Bruges-Armas, Jácome, Pinto, Rita Mouro, Sobrinho Simões, Joana, Costa, Maria do Rosário, Guimarães, João Tiago, Martins, Luís, and Cunha, Mário
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- 2017
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5. Gestão de serviços de manutenção em contexto hospitalar de equipamentos médicos
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Couto, Ana Rita Pedro do and Vasconcelos, Verónica Maria Marques do Carreiro
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Manutenção corretiva ,Manutenção preventiva ,Manutenção hospitalar ,Eletromedicina ,Equipamento médico - Abstract
A esperança de vida aumentou nas últimas décadas, não só pela existência de melhores meios de diagnóstico e conhecimento científico, mas também ao desenvolvimento tecnológico que tem vindo a aumentar nos últimos anos e tem sido aplicado em equipamentos médicos. Por isso, é mais do que necessário apostar e ter uma especial atenção na especialização de áreas como a manutenção de equipamentos em ambiente hospitalar. O bom funcionamento dos equipamentos promove uma melhor monitorização e diagnóstico e, consequentemente, a realização de tratamentos de forma mais célere. Para que os hospitais ou clínicas possuam um bom desempenho, necessitam de equipas multidisciplinares. Para além de profissionais de saúde devem integrar engenheiros e técnicos que assegurem o bom funcionamento dos inúmeros equipamentos médicos existentes. Estes têm um papel fundamental de forma a que o trabalho realizado não seja comprometido, por falhas ou por mau funcionamento. Assim, é fulcral a manutenção para certificar que os equipamentos estão em conformidade para que desempenhem as suas funções corretamente e durante um período alargado de tempo. O presente relatório descreve o trabalho realizado num período de seis meses de um estágio curricular no âmbito do Mestrado em Instrumentação Biomédica (MIB), ministrado no Instituto Superior de Engenharia de Coimbra (ISEC). O estágio foi realizado na ATM – Manutenção Total na área de manutenção hospitalar como técnica de Eletromedicina que decorreu no Hospital CUF Descobertas. Este estágio teve como principais objetivos adquirir conhecimentos sobre o funcionamento de diversos equipamentos médicos, e conhecer os procedimentos de manutenção preventiva e corretiva associados. O software utilizado no estágio, o NextBitt, possibilitou adquirir conhecimentos sobre gestão de ativos. No relatório são descritos conceitos relacionados com a manutenção e com parâmetros associados aos equipamentos para uma melhor compreensão.
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- 2022
6. Evidence for a genetic contribution to the ossification of spinal ligaments in Ossification of Posterior Longitudinal Ligament and Diffuse idiopathic skeletal hyperostosis: A narrative review
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Couto, Ana Rita, primary, Parreira, Bruna, additional, Power, Deborah M., additional, Pinheiro, Luís, additional, Madruga Dias, João, additional, Novofastovski, Irina, additional, Eshed, Iris, additional, Sarzi-Puttini, Piercarlo, additional, Pappone, Nicola, additional, Atzeni, Fabiola, additional, Verlaan, Jorrit-Jan, additional, Kuperus, Jonneke, additional, Bieber, Amir, additional, Ambrosino, Pasquale, additional, Kiefer, David, additional, Khan, Muhammad Asim, additional, Mader, Reuven, additional, Baraliakos, Xenofon, additional, and Bruges-Armas, Jácome, additional
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- 2022
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7. Spondyloarthritis, Diffuse Idiopathic Skeletal Hyperostosis (DISH) and Chondrocalcinosis
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Armas, Jácome Brugues, Couto, Ana Rita, Bettencourt, Bruno Filipe, Back, Nathan, editor, Cohen, Irun R., editor, Lajtha, Abel, editor, Lambris, John D., editor, Paoletti, Rodolfo, editor, López-Larrea, Carlos, editor, and Díaz-Peña, Roberto, editor
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- 2009
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8. Evidence for a genetic contribution to the ossification of spinal ligaments in Ossification of Posterior Longitudinal Ligament and Diffuse idiopathic skeletal hyperostosis: A narrative review
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MS Orthopaedie Algemeen, Cancer, Regenerative Medicine and Stem Cells, Orthopaedie Opleiding, Couto, Ana Rita, Parreira, Bruna, Power, Deborah M., Pinheiro, Luís, Madruga Dias, João, Novofastovski, Irina, Eshed, Iris, Sarzi-Puttini, Piercarlo, Pappone, Nicola, Atzeni, Fabiola, Verlaan, Jorrit Jan, Kuperus, Jonneke, Bieber, Amir, Ambrosino, Pasquale, Kiefer, David, Khan, Muhammad Asim, Mader, Reuven, Baraliakos, Xenofon, Bruges-Armas, Jácome, MS Orthopaedie Algemeen, Cancer, Regenerative Medicine and Stem Cells, Orthopaedie Opleiding, Couto, Ana Rita, Parreira, Bruna, Power, Deborah M., Pinheiro, Luís, Madruga Dias, João, Novofastovski, Irina, Eshed, Iris, Sarzi-Puttini, Piercarlo, Pappone, Nicola, Atzeni, Fabiola, Verlaan, Jorrit Jan, Kuperus, Jonneke, Bieber, Amir, Ambrosino, Pasquale, Kiefer, David, Khan, Muhammad Asim, Mader, Reuven, Baraliakos, Xenofon, and Bruges-Armas, Jácome
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- 2022
9. Investigating ANKH and ENPP1 in Slovakian families with chondrocalcinosis
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Couto, Ana Rita, Zhang, Yun, Timms, Andrew, Bruges-Armas, Jacome, Sequeiros, Jorge, and Brown, Matthew A.
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- 2012
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10. The coexistence of ankylosing spondylitis and diffuse idiopathic skeletal hyperostosis—a postmortem diagnosis
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Jordana, Xavier, Galtés, Ignasi, Couto, Ana Rita, Gales, Luís, Damas, Margarida, Lima, Manuela, and Bruges-Armas, Jácome
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- 2009
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11. Genetic factors in the pathogenesis of CPPD crystal deposition disease
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Couto, Ana Rita and Brown, Matthew A.
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- 2007
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12. The role of HLA-DRB1 alleles on susceptibility and outcome of a Portuguese Multiple Sclerosis population
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Silva, Ana Martins, Pereira, Clara, Bettencourt, Andreia, Carvalho, Cláudia, Couto, Ana Rita, Leite, Maria Isabel, Marta, Mónica, Freijo, Marta, Costa, Paulo Pinho, Mendonça, Denisa, Monteiro, Luís, Armas, Jácome Bruges, and Martins, Berta
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- 2007
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13. Novel ANKH Amino Terminus Mutation (Pro5Ser) Associated With Early-Onset Calcium Pyrophosphate Disease With Associated Phosphaturia
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Gruber, Barry L., Couto, Ana Rita, Armas, Jácome Bruges, Brown, Matthew A., Finzel, Kathleen, and Terkeltaub, Robert A.
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- 2012
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14. HLA Class-I Diversity in Cameroon: Evidence for a North-South Structure of Genetic Variation and Relationships with African Populations
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Spínola, Hélder, Couto, Ana Rita, Peixoto, Maria José, Anagnostou, Paolo, Destro-Bisol, Giovanni, Spedini, Gabriella, Lopéz-Larrea, Carlos, and Bruges-Armas, Jácome
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- 2011
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15. Ectopic calcification among families in the Azores: Clinical and radiologic manifestations in families with diffuse idiopathic skeletal hyperostosis and chondrocalcinosis
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Bruges-Armas, Jácome, Couto, Ana Rita, Timms, Andrew, Santos, Margarida R., Bettencourt, Bruno Filipe, Peixoto, Maria José, Colquhoun, Katherine, McNally, Eugene G., Carneiro, Victor, Herrero-Beaumont, Gabriel, and Brown, Matthew A.
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- 2006
16. Linkage disequilibrium between S65C HFE mutation and HLA A29-B44 haplotype in Terceira Island, Azores
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Couto, Ana Rita, Peixoto, Maria José, Garrett, Francisco, Laranjeira, Francisco, Cipriano, Tania, and Bruges Armas, Jácome
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- 2003
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17. Severe RSV infections in children and elderly during 2017/2018 winter season
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Guiomar, Raquel, Pechirra, Pedro, Costa, Inês, Cristóvão, Paula, Conde, Patrícia, Nunes, Baltazar, Rodrigues, Ana Paula, Côrte-Real, Rita, Branquinho, Paula, Garcia, David, Conde, Sílvia, Rodrigues, Fernando, Pereira-Vaz, João, Alves, José, Ludivina, Freitas, Mota Vieira, Luísa, Cabral Veloso, Rita, Bruges Armas, Jácome, Couto, Ana Rita, Ribeiro, Carlos, Barreto, Rosário, Cunha, Mário, Martins, Luís, Almeida, Sofia, Peres, Maria João, Viseu, Regina, Mota, Paula, Lopes, Paulo, Soares, Vânia, Vale, Fátima, Fonseca, Patrícia, Toscano, Cristina, and Dias, Ana
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Infecções Respiratórias ,Influenza Virus ,Elderly ,Portugal ,Respiratory syncytial virus (RSV) ,viruses ,Cuidados de Saúde ,virus diseases - Abstract
DDI_INSA em colaboração com o DEP-INSA e a Rede Portuguesa de Laboratórios para o Diagnóstico da Gripe Background: Respiratory syncytial virus (RSV) is one of the most frequent and important respiratory viral agent that causes respiratory infection complications in younger children and elderly. RSV has an autumn / winter seasonality detected in cocirculation with influenza and other respiratory viruses. Material and Methods: During 2017/2018 season, 14 hospitals from Portugal mainland and Atlantic Island tested 4278 swabs for influenza, respiratory syncytial virus (RSV) and other respiratory viruses (oRV). Data on age and hospital service were recorded. Samples were collected from patients with mild to severe respiratory infections. Severity was correlated with the need for hospitalization. The study aimed to determine the age groups that had experienced severe RSV infections during the 2017/2018 season with the need of hospitalization, including in intensive care units (ICU). Results: Between October/2017-May/2018 were tested 4278 swabs for influenza, RSV and oRV (picornavirus, adenovirus, bocavirus, metapneumovirus, parainfluenzavirus, coronavirus). A total of 43%(1830) swabs were positive, from these 35%(639) were outpatients, 61%(1112) were hospitalized and 4% (79) were at ICU. The prevalence found were: Influenza 63%(1157), RSV 15%(266), oRV 13%(247) and 9%(160) of the cases were mixed infections. Influenza was detected in more than 70% of the positives swabs in patients aged above 15 years old. The oRV played a major role in respiratory infections in children, 0-4 and 5-14 years old, detected in 23% and 21% of the cases ,respectively. RSV was the predominant virus identified in toddlers, under 4 years old (29% of the positive samples and in 85% of codetection ). Among elderly 65+, RSV was confirmed in 13% of the respiratory infections. In hospitalized adults 65+, although influenza was detected in 80% of the positive swabs, RSV was 3.5 times more frequently detected than oRV, higher than the observed in outpatients (RSV 1.6 times more frequent than oRV). In hospitalized patients under 5 years old, RSV were detected in 31% of the positive swabs being 1.3 and 1.5 times more frequently than influenza and oRV, respectively. In ICU, 40%(32) of the cases were under 5 years old, influenza was confirmed in only 3% and RSV in 22% of the cases. 35%(28) ICU cases had 65+years old, influenza was confirmed in 57% and RSV in 14% of these patients. Conclusions: During 2017/2018, RSV was detected in severe respiratory infections. In young children (≤4 years old) RSV was the most frequently detected respiratory virus. In elderly 65+, besides influenza, RSV was frequently associated with severe respiratory infections. Prevention measures for RSV severe infections are essential not only in children but also among the elderly. N/A
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- 2018
18. Influenza virus type/subtype and different infection profiles by age group during 2017/2018 season
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Guiomar, Raquel, Pechirra, Pedro, Cristóvão, Paula, Costa, Inês, Conde, Patrícia, Côrte-Real, Rita, Branquinho, Paula, Garcia, David, Conde, Sílvia, Rodrigues, Fernando, Pereira-Vaz, João, Alves, José, Freitas, Ludivina, Mota Vieira, Luísa, Cabral Veloso, Rita, Bruges Armas, Jácome, Couto, Ana Rita, Ribeiro, Carlos, Barreto, Rosário, Cunha, Mário, Martins, Luís, Almeida, Sofia, Peres, Maria João, Viseu, Regina, Mota, Paula, Lopes, Paulo, Soares, Vânia, Vale, Fátima, Fonseca, Patrícia, Toscano, Cristina, and Dias, Ana
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Infecções Respiratórias ,Portugal ,Age Groups ,virus diseases ,Influenza - Abstract
DDI-INSA em colaboração com a Rede Portuguesa de Laboratórios para o Diagnóstico da Gripe Background: Influenza has a major impact in hospitalization during each influenza season. We analysed the influenza type/subtype distribution by age group and medical care wards (ambulatory, hospital, intensive care unit). Material and Methods: During 2017/2018 season, 14 hospitals from Portugal mainland and Atlantic Island (Azores and Madeira) reported to the National Influenza Centre 13747 cases of respiratory infection, all tested for influenza type and/or subtype. Epidemiological data: age, sample collection, hospital dwelling service and patient outcome were reported. Results: From the 13747 reported cases, 3717(27%) were influenza positive of which 2033 (55%) were influenza B, 722 (19%) A unsubtyped, 505 (14%) AH3, 442 (12%) AH1pdm09 and 15(0,1%) mixed infections. Influenza A was detected in 71% (204/208) of toddlers(
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- 2018
19. Possible association with HLA-E and HLA-F
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Santos, Margarida Rodrigues, Couto, Ana Rita, Foroni, Iris, Bettencourt, Bruno Filipe, Li, Zhixiu, Meneses, Raquel, Wheeler, Lawrie, Pereira, Joaquim, Pimentel-Santos, Fernando, Fonseca, João Eurico, Alves, Helena, Martinho, António, Lima, Manuela, Brown, Matthew A., Bruges-Armas, Jácome, NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM), and Centro de Estudos de Doenças Crónicas (CEDOC)
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HLA ,gene polymorphism ,Rheumatology ,inflammation ,ankylosing spondylitis ,Immunology ,Immunology and Allergy ,autoimmune diseases ,spondyloarthritis - Abstract
Objectives Ankylosing spondylitis (AS) is the most prevalent form of spondyloarthritis, with a known genetic association with the HLA-B27 molecule. The aim of this study was to assess the contribution of the HLA-G, HLA-E and HLA-F to AS susceptibility/protection in Portuguese patients with HLA-B27 AS and HLA-B27 unaffected controls. Methods High-resolution typing of HLA-G, HLA - E and HLA - F was performed in 228 patients with HLA-B27 AS and 244 HLA-B27 unaffected controls. Allelic, genotypic and haplotypic frequencies were compared between cohorts. To replicate the results, single nucleotide polymorphisms (SNPs) in HLA-E and HLA-F genes were typed in Australian cohorts. For further confirmation, a group of European-descent patients with AS and unaffected controls were genotyped for Major Histocompatibility Complex SNPs using the Illumina microarray. Results In the Portuguese population, no significant differences were found in HLA-G. For HLA-E, a significant difference was detected for the genotype HLA-E∗01:01:01/01:03:01 (p=0.009; pc=0.009; OR=0.51), with a protection effect. For HLA-F, significant differences were detected in the allele HLA-F∗01:01:02 (p=0.0049; pc=0.0098; OR=0.60) and corresponding SNP rs2075682 (p=0.0004; pc=0.0008; OR=0.53), suggesting protection and in the genotype HLA-F∗01:01:01/01:03:01 (p=0.011; pc=0.043; OR=2.00), suggesting a susceptibility effect. Three G-E-F haplotypes with significant differences were detected but occur in a very small number of individuals. The only significant differences detected in the replication studies were for HLA-E rs1059510 in the Australians and for HLA-F rs1736924 in the European-descent cohorts. Conclusion Our results reveal suggestive AS protective and susceptibility effects from both HLA-E and HLA - F loci, however with population differences. To our knowledge, this is the first study showing association of HLA-F with AS. publishersversion published
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- 2018
20. whole-genome-wide linkage and IBS/IBD studies
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Couto, Ana Rita, Parreira, Bruna, Thomson, Russell, Soares, Marta, Power, Deborah M, Stankovich, Jim, Armas, Jácome Bruges, Brown, Matthew A, Centro de Estudos de Doenças Crónicas (CEDOC), and NOVA Medical School|Faculdade de Ciências Médicas (NMS|FCM)
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Journal Article ,Genetics ,Biochemistry ,Molecular Biology - Abstract
Twelve families with exuberant and early-onset calcium pyrophosphate dehydrate chondrocalcinosis (CC) and diffuse idiopathic skeletal hyperostosis (DISH), hereafter designated DISH/CC, were identified in Terceira Island, the Azores, Portugal. Ninety-two (92) individuals from these families were selected for whole-genome-wide linkage analysis. An identity-by-descent (IBD) analysis was performed in 10 individuals from 5 of the investigated pedigrees. The chromosome area with the maximal logarithm of the odds score (1.32; P=0.007) was not identified using the IBD/identity-by-state (IBS) analysis; therefore, it was not investigated further. From the IBD/IBS analysis, two candidate genes, LEMD3 and RSPO4, were identified and sequenced. Nine genetic variants were identified in the RSPO4 gene; one regulatory variant (rs146447064) was significantly more frequent in control individuals than in DISH/CC patients (P=0.03). Four variants were identified in LEMD3, and the rs201930700 variant was further investigated using segregation analysis. None of the genetic variants in RSPO4 or LEMD3 segregated within the studied families. Therefore, although a major genetic effect was shown to determine DISH/CC occurrence within these families, the specific genetic variants involved were not identified. publishersversion published
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- 2017
21. Non-classical human leucocyte antigens in ankylosing spondylitis: possible association with HLA-E and HLA-F
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Santos, Margarida Rodrigues, primary, Couto, Ana Rita, additional, Foroni, Iris, additional, Bettencourt, Bruno Filipe, additional, Li, Zhixiu, additional, Meneses, Raquel, additional, Wheeler, Lawrie, additional, Pereira, Joaquim, additional, Pimentel-Santos, Fernando, additional, Fonseca, João Eurico, additional, Alves, Helena, additional, Martinho, António, additional, Lima, Manuela, additional, Brown, Matthew A, additional, and Bruges-Armas, Jácome, additional
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- 2018
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22. Persistence of the ABCC6 genes and the emergence of the bony skeleton in vertebrates
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Parreira, Bruna, primary, Cardoso, João C. R., additional, Costa, Rita, additional, Couto, Ana Rita, additional, Bruges-Armas, Jácome, additional, and Power, Deborah M., additional
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- 2018
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23. Combined approach for finding susceptibility genes in DISH/chondrocalcinosis families: Whole-genome-wide linkage and IBS/IBD studies
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Couto, Ana Rita, Parreira, Bruna, Thomson, Russell, Soares, Marta, Power, Deborah M., Stankovich, Jim, Armas, Jácome Bruges, Brown, Matthew A., Couto, Ana Rita, Parreira, Bruna, Thomson, Russell, Soares, Marta, Power, Deborah M., Stankovich, Jim, Armas, Jácome Bruges, and Brown, Matthew A.
- Abstract
Twelve families with exuberant and early-onset calcium pyrophosphate dehydrate chondrocalcinosis (CC) and diffuse idiopathic skeletal hyperostosis (DISH), hereafter designated DISH/CC, were identified in Terceira Island, the Azores, Portugal. Ninety-two (92) individuals from these families were selected for whole-genome-wide linkage analysis. An identity-by-descent (IBD) analysis was performed in 10 individuals from 5 of the investigated pedigrees. The chromosome area with the maximal logarithm of the odds score (1.32; P=0.007) was not identified using the IBD/identity-by-state (IBS) analysis; therefore, it was not investigated further. From the IBD/IBS analysis, two candidate genes, LEMD3 and RSPO4, were identified and sequenced. Nine genetic variants were identified in the RSPO4 gene; one regulatory variant (rs146447064) was significantly more frequent in control individuals than in DISH/CC patients (P=0.03). Four variants were identified in LEMD3, and the rs201930700 variant was further investigated using segregation analysis. None of the genetic variants in RSPO4 or LEMD3 segregated within the studied families. Therefore, although a major genetic effect was shown to determine DISH/CC occurrence within these families, the specific genetic variants involved were not identified.
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- 2017
24. Influenza severe cases in hospitals, between 2014 and 2016 in Portugal
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Guiomar, Raquel, Pechirra, Pedro, Cristóvão, Paula, Costa, Inês, Conde, Patrícia, Corte-Real, Rita, Branquinho, Paula, Silvestre, Maria José, Almeida Santos, Madalena, Fernandes, Isabel, Dias, Isabel, Rodrigues, Sónia, Sena, Nadir, Lazzara, Daniela, Sobrinho Simões, Joana, Costa, Maria do Rosário, Guimarães, João Tiago, Rodrigues, Fernando, Pereira-Vaz, João, Correia, Lurdes, Andrade, Graça, Freitas, Ludivina, Figueira, Neuza, Sanches, Raquel, Marques, Mónica, Barros, Margarida, Mota Vieira, Luísa, Cabral Veloso, Rita, Castelo Branco, Cláudia, Pimentel, Sílvia, Duarte, Joana, Pereirinha, Tânia, Bulhões, Sara, Moniz, Raquel, Brilhante, Maria José, Bruges Armas, Jácome, Pimentel Couto, Ana Rita, Santos, Margarida, Soares, Marta, Melo Cristino, José, Ribeiro, Carlos, Carvalho, Dinah, Barreto, Rosário, Ramos, Maria Helena, Castro, Ana Paula, Matos Santos, Ana Cláudia, Cunha, Mário, Martins, Luís, Almeida, Sofia, Peres, Maria João, Viseu, Regina, Inácio, Filipe, and Mota, Paula
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Infecções Respiratórias ,Gripe ,virus diseases ,Severe Influenza - Abstract
Rede Portuguesa de Laboratórios para o Diagnóstico da Gripe Background: Since 2009, the Portuguese Laboratory Network (PLNID) for Influenza Diagnosis has integrated 15 Laboratories in mainland and Atlantic Islands of Azores and Madeira. This PLNID added an important contribute to the National Influenza Surveillance Program regarding severe and hospitalized influenza cases. The present study aims to describe influenza viruses detected in influenza like illness (ILI) cases: outpatients (Outp), hospitalized (Hosp), and intensive care units (ICU), between 2014 and 2016. Methods: The PLNID performs influenza virus diagnosis by biomolecular methodologies. Weekly reports to the National Influenza Reference Laboratory ILI cases tested for influenza. Reports include data on detecting viruses, hospital assistance, antiviral therapeutics, and information on death outcome. Were reported during two winter seasons 8059 ILI cases,being 3560 cases in 2014/15 (1024 in Outp, 1750 Hosp, and 606 in ICU) and 4499 cases in 2015/2016 (1933 in Outp, 1826 Hosp, and 740 in ICU). Results: The higher percentage of influenza positive cases were detected in Outp in both seasons, 18% during 2014/15 and 20% in 2015/16. In 2014/15,influenza cases were more frequent in individuals older than 65 years old and these required more hospitalizations,even in ICU. In 2015/16,the influenza cases were mainly detected in individuals between 15-64 years old. A higher proportion of influenza positive cases with hospitalization in ICU were observed in adults between 45-64 years old.During the study period,the predominant circulating influenza viruses were different in the two seasons: influenza B and A(H3) co-circulated in 2014/15,and influenza A(H1)pdm09 was predominant during 2015/16. Even when influenza A is notthe dominant virus, A(H3) and A(H1)pdm09 subtypes correlate with higher detection rate in hospitalized cases (Hosp and UCI), with higher frequencies in adults older than 45. Influenza B,detected in higher proportion in outpatients, was frequently relatedwith influenza cases in younger age groups: 0-4 and 5-14 years old. Conclusions: This study highlights the correlation of theinfluenza virus type/subtype that circulates in each season with the possible need for hospitalization and intensive care in special groups of the population. Circulation of influenza A subtypes can cause more frequentdisease in individuals older than 45, with need of hospitalization including intensive care. On the other hand, influenza B is more frequently associated with less severe cases and with infection in children and younger adults. Influenza B circulation might predict lower number of hospitalizations.The identification of influenza type in circulation,byPLNID ineach season, could guide action planning measures in population health care. info:eu-repo/semantics/publishedVersion
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- 2016
25. Influenza seroprotection correlates with predominant circulating viruses during 2014/15 and 2015/16 seasons in Portugal
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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, and Mota, Paula
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Infecções Respiratórias ,Serology ,Gripe ,Estados de Saúde e de Doença ,Influenza - Abstract
Rede Portuguesa de Laboratórios para o Diagnóstico da Gripe BACKGROUND: 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. info:eu-repo/semantics/publishedVersion
- Published
- 2016
26. Combined approach for finding susceptibility genes in DISH/chondrocalcinosis families: whole-genome-wide linkage and IBS/IBD studies
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Couto, Ana Rita, primary, Parreira, Bruna, additional, Thomson, Russell, additional, Soares, Marta, additional, Power, Deborah M, additional, Stankovich, Jim, additional, Armas, Jácome Bruges, additional, and Brown, Matthew A, additional
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- 2017
- Full Text
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27. Rede Portuguesa de Laboratórios para o Diagnóstico da Gripe: inverno 2013/2014
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Guiomar, Raquel, Pechirra, Pedro, Conde, Patrícia, Cristóvão, Paula, Maia, Ana Carina, Silvestre, Maria José, Almeida Santos, Madalena, Sobrinho Simões, Joana, Costa, Maria do Rosário, Pinto, Rita, Guimarães, João Tiago, Ribeiro, Graça, Pereira-Vaz, João, Correia, Lurdes, Fernandes, Paula Luísa, Andrade, Graça, Mota Vieira, Luísa, Cabral Veloso, Rita, Moniz, Raquel, Pereirinha, Tânia, Bruges Armas, Jácome, Pimentel Couto, Ana Rita, Soares, Marta, Melo Cristino, José, Ribeiro, Carlos, Carvalho, Dinah, Barreto, Raquel, Côrte-Real, Rita, Branquinho, Paula, Ramos, Maria Helena, Castro, Ana Paula, Cunha, Mário, Martins, Luís, Almeida, Sofia, Peres, Maria João, Viseu, Regina, and Inácio, Filipe
- Subjects
Infecções Respiratórias ,Rede Laboratorial ,Gripe ,2013/2014 - Abstract
A Rede Portuguesa de Laboratórios para o Diagnóstico da Gripe (RPLDG) integra, atualmente, 15 laboratórios maioritariamente hospitalares e é coordenada pelo Laboratório Nacional de Referência para o Vírus da Gripe (LNRVG) do Departamento de Doenças Infecciosas do Instituto Nacional de Saúde Doutor Ricardo Jorge, I.P. A RPLDG realiza o diagnóstico laboratorial do vírus da gripe assim como de outros vírus respiratórios, permitindo um conhecimento mais preciso da etiologia das infeções respiratórias, particularmente em casos hospitalizados de infeção respiratória aguda grave, constituindo um complemento valioso para o PNVG. Os casos de SG provenientes de emergências hospitalares e casos de Infecção Respiratória Aguda Grave, incluindo casos com internamento em unidade de cuidados intensivos, foram notificados pelos laboratórios da Rede ao LNRVG. Dos 15 laboratórios da Rede, 13 notificaram casos de doença respiratória durante a época de 2013/2014. Os dados recolhidos foram inseridos em suporte informático tendo as bases de dados sido agregadas numa base de dados comum submetida a um processo de validação de congruência de dados. Os dados analisados correspondem ao período que decorreu entre a semana 38 de 2013 e a semana 21 de 2014. Foram notificados pelos Laboratórios da Rede um total de 3790 casos de infeção respiratória. O maior número de notificações foi observado no mês de janeiro e fevereiro (semanas 2/2014 a 8/2014), com um pico de ocorrência na semana 4/2014 com a notificação de 454 casos de infeção respiratória. O vírus da gripe foi detetado em 822 casos de infeção respiratória. O vírus influenza A foi identificado em 807 (98,2%) dos casos positivos, destes 403 (49,0%) pertencem ao subtipo A(H1)pdm09, 98 (12,0%) ao subtipo A(H3) e 306 (37,0%) vírus influenza A não foram subtipados. O vírus influenza B foi detetado em 14 (2,0%) casos. Foi identificada 1 infecção mista por vírus influenza A(H1)pdm09 e A(H3) (0,1%). A maior percentagem de casos de gripe foi observada em indivíduos entre os 15 e os 64 anos sendo o vírus influenza A(H1)pdm09 o predominantemente detetado. Nas crianças com menos de 4 anos o vírus influenza foi detetado numa proporção reduzida, apenas em 8,8% dos casos analisados laboratorialmente, sendo o agente mais detetado neste grupo etário, o vírus sincicial respiratório (dados não mostrados). A Rede Portuguesa de Laboratórios para o Diagnóstico da Gripe permitiu a deteção dos vírus da gripe em meio hospitalar, incluindo doentes em internamento e UCI. Os vírus influenza A foram predominantes e detetados em maior percentagem nos jovens e adultos.
- Published
- 2014
28. HLA-A, -B, -C, -DQA1, -DQB1, -DRB1, -E, -F and -G genotyping of 130 individuals from Terceira Island, Azores, Portugal
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Bettencourt, Bruno Filipe, primary, Santos, Margarida Rodrigues, additional, Pereira, Joaquim, additional, Amaro, Bruna, additional, Fialho, Raquel, additional, Meneses, Raquel, additional, Couto, Ana Rita, additional, and Bruges Armas, Jácome, additional
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- 2016
- Full Text
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29. Severe acute respiratory infections in the 2012/2013 season studied by the Portuguese Laboratory Network for Influenza Diagnosis
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Guiomar, Raquel, Pechirra, Pedro, Conde, Patrícia, Cristóvão, Paula, Silvestre, Maria José, Almeida Santos, Madalena, Sobrinho Simões, Joana, Costa, Maria do Rosário, Amaral, Susana, Guimarães, João Tiago, Ribeiro, Graça, Correia, Lurdes, Fernandes, Aida, Milho, Luís, Fernandes, Paula Luísa, Andrade, Graça, Mota Vieira, Luísa, Cabral, Rita, Moniz, Raquel, Pereirinha, Tania, Bruges Armas, Jacome, Pimentel Couto, Ana Rita, Soares, Marta, Melo Cristino, José, Carvalho, Dinah, Ribeiro, Carlos, Barreto, Rosário, Côrte-Real, Rita, Branquinho, Paula, Ramos, Maria Helena, Castro, Ana Paula, Caldeira, Filomena, Maurílio, Manuel, Cunha, Mário, Ornelas, Carmo, and Almeida, Sofia
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Infecções Respiratórias ,Portuguese Laboratory Network for Influenza ,Gripe ,virus diseases ,Severe Acute Respiratory Infections - Abstract
During the 2009/10 influenza pandemic, a network of 14 laboratories located in the main reference hospitals from Portugal mainland, Madeira and Azores was established for the diagnosis of the new influenza A(H1N1)2009 pandemic strain. Since then, the network performs laboratory diagnosis of influenza as well as other respiratory pathogens, thus contributing to the laboratory diagnosis of respiratory disease in Portugal. This network is a valuable complement of the National Influenza Surveillance Programme (mainly based on primary healthcare units), enabling a more accurate knowledge of the aetiology of the severe respiratory infections, especially in hospitalized cases. The present study describes the severe acute respiratory infections, in the 2012/2013 season, diagnosed by the laboratory network. From the 14 laboratories, 11 reported cases of respiratory disease during 2012/2013 season. The laboratory network performs diagnosis of influenza A and B viruses and other respiratory agents by PCR based methods, also enabling the detection of mixed infections. All 14 laboratories perform the detection of influenza A(H1)pdm09, 4 perform the influenza A(H1) seasonal and A(H3) subtyping, and 10 participants also detect influenza B. Eight laboratories implemented methodologies for the detection of other infectious agents associated with respiratory disease. The antigenic characterization of 8 isolated viruses [3 A(H1)pdm09 and 5 B/Yamagata] was performed at the National Influenza Reference Laboratory. The genetic analysis of the HA1 subunit of the haemagglutinin gene was performed in 17 viruses [7 A(H1)pdm09, 1 A(H3) and 9 B/Yamagata]. Twenty nine A(H1)pdm09 and 5 B/Yamagata were tested for antiviral susceptibility [PCR(NA)-H275Y and/or MUNANA phenotypic assays for oseltamivir and zanamivir]. The 11 laboratories reported a total of 1470 respiratory disease cases, from week 39/2012 to 21/2013 [peak of 205 (13.9%) cases during week 10/2013]. Influenza was identified in 504 cases. Influenza A was detected in 352 (70.0%) cases: 297 (59.0%) cases were A(H1)pdm09, 48 (10.0%) cases were not subtyped, and 7 (1.0%) cases were A(H3). Influenza B was identified in 152 (30%) of the influenza cases. During the 2012/2013 season, 311 (21.2%) reported cases were hospitalized in intensive care units (ICU), the majority of them had between 50-54 years (34; 10.9%), followed by the age groups 45-49 and 55-59 years old (28; 9.0% each). The causal agent was identified in 160 (51.4%) ICU cases. Influenza was identified in 120 (38.5%) patients, other respiratory agents were detected in 40 (12.8%), within these, multiple infections were present in 18 (5.7%). Bacteria were identified in 31 (10.0%) cases mainly associated with RSV and hRV. Among ICU influenza cases, the most detected virus was A(H1)pdm09 (82; 62.0%). However, cases of A(H3) (3; 2.0%), A unsubtyped (8; 7.0%) and B (27; 23.0%) were also detected. As expected, the highest number of ICU influenza positive cases was detected in week 10/2013 (18; 15.0%), coincident with the highest number of influenza cases during all season. ICU flu cases were detected predominantly in individuals between 50-54 years (18; 15.0%). From the ICU reported cases, 6 (1.9%) died. The influenza A(H1)pdm09 virus was detected in 2 man between 50-59 years old from these 6 fatal outcomes. The isolated influenza A viruses were similar to the 2012/2013 vaccine strains. The influenza B/Yamagata viruses showed a greater antigenic and genetic variability. The Portuguese Laboratory Network for Influenza Diagnosis plays a major role in the diagnosis of acute respiratory infections in Portugal, providing a more accurate knowledge of the respiratory agents involved. During the 2012/2013 season, the influenza A(H1)pdm09 virus predominated in co-circulation with influenza B virus. The A(H1)pdm09 virus was the responsible for the majority of the flu cases admitted in the ICU and may have been the cause of death in two cases. Bacterial and other viral agents have been identified in some of the severe cases reported. The majority of the characterized influenza viruses were similar to the vaccine strains and none of the virus showed reduced susceptibility to oseltamivir or zanamivir.
- Published
- 2013
30. 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 Infection
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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, and Maurílio, Manuel
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Infecções Respiratórias ,Laboratory Network ,Gripe ,A(H1)pdm09 Diagnosis - Published
- 2011
31. Flow of red blood cells in capillary networks
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Couto, Ana Rita, Teixeira, Lúcia, Leble, Vladimir, Lima, Rui A., Ribeiro, António E., and Dias, Ricardo P.
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Capillary networks - Abstract
In the present work we have studied the flow of red blood cells through a column packed with soda lime glass spheres with diameter of 337.5 micron (pore diameter 150 micron). The ratio between the average velocity of the RBCs and the average velocity of the carrying fluid (physiological saline) was close to 0.9. The RBCs migrated faster through the column than the carrying fluid mainly due to a hydrodynamic chromatographic effect.
- Published
- 2011
32. Investigating ANKH and ENPP1 in Slovakian families with chondrocalcinosis
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Couto, Ana Rita, primary, Zhang, Yun, additional, Timms, Andrew, additional, Bruges-Armas, Jacome, additional, Sequeiros, Jorge, additional, and Brown, Matthew A., additional
- Published
- 2011
- Full Text
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33. Polymorphism in cardiovascular diseases (CVD) susceptibility loci in the azores islands (Portugal)
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Raposo, Mafalda, primary, Sousa, Paul, additional, Nemeth, Stefan, additional, Couto, Ana Rita, additional, Santos, Margarida Rodrigues, additional, Pinheiro, João Paulo, additional, Peixoto, Maria João, additional, Oberkanins, Christian, additional, Kazachkova, Nadiya, additional, Cymbron, Teresa, additional, Lima, Manuela, additional, and Bruges-Armas, Jácome, additional
- Published
- 2011
- Full Text
- View/download PDF
34. Role of human leukocyte antigen, killer-cell immunoglobulin-like receptors, and cytokine gene polymorphisms in leptospirosis
- Author
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Fialho, Raquel Nunes, primary, Martins, Luís, additional, Pinheiro, João Paulo, additional, Bettencourt, Bruno Filipe, additional, Couto, Ana Rita, additional, Santos, Margarida Rodrigues, additional, Peixoto, Maria José, additional, Garrett, Francisco, additional, Leal, João, additional, Tomás, Ana Maria, additional, and Bruges-Armas, Jácome, additional
- Published
- 2009
- Full Text
- View/download PDF
35. The coexistence of ankylosing spondylitis and diffuse idiopathic skeletal hyperostosis—a postmortem diagnosis
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Jordana, Xavier, primary, Galtés, Ignasi, additional, Couto, Ana Rita, additional, Gales, Luís, additional, Damas, Margarida, additional, Lima, Manuela, additional, and Bruges-Armas, Jácome, additional
- Published
- 2008
- Full Text
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36. HLA and the Spondyloarthritis
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Armas, Jácome Bruges, primary, Santos, Margarida, additional, Peixoto, Maria José, additional, Couto, Ana Rita, additional, and Garrett, Francisco, additional
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- 2004
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37. Novel ANKHAmino Terminus Mutation (Pro5Ser) Associated With Early-Onset Calcium Pyrophosphate Disease With Associated Phosphaturia
- Author
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Gruber, Barry L., Couto, Ana Rita, Armas, Jácome Bruges, Brown, Matthew A., Finzel, Kathleen, and Terkeltaub, Robert A.
- Abstract
This report describes a 32-year-old woman presenting since childhood with progressive calcium pyrophosphate disease (CPPD), characterized by severe arthropathy and chondrocalcinosis involving multiple peripheral joints and intervertebral disks. Because ANKHmutations have been previously described in familial CPPD, the proband’s DNA was assessed at this locus by direct sequencing of promoter and coding regions and revealed 3 sequence variants in ANKH. Sequences of exon 1 revealed a novelisolated nonsynonymous mutation (c.13 C>T), altering amino acid in codon 5 from proline to serine (CCG>TCG). Sequencing of parental DNA revealed an identical mutation in the proband’s father but not the mother. Subsequent clinical evaluation demonstrated extensive chondrocalcinosis and degenerative arthropathy in the proband’s father. In summary, we report a novel mutation, not previously described, in ANKHexon 1, wherein serine replaces proline, in a case of early-onset severe CPPD associated with metabolic abnormalities, with similar findings in the proband’s father.
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- 2012
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38. Corrigendum: Evidence for a genetic contribution to the ossification of spinal ligaments in ossification of posterior longitudinal ligament and diffuse idiopathic skeletal hyperostosis: a narrative review.
- Author
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Couto AR, Parreira B, Power DM, Pinheiro L, Madruga Dias J, Novofastovski I, Eshed I, Sarzi-Puttini P, Pappone N, Atzeni F, Verlaan JJ, Kuperus J, Bieber A, Ambrosino P, Kiefer D, Khan MA, Mader R, Baraliakos X, and Bruges-Armas J
- Abstract
[This corrects the article DOI: 10.3389/fgene.2022.987867.]., (Copyright © 2024 Couto, Parreira, Power, Pinheiro, Madruga Dias, Novofastovski, Eshed, Sarzi-Puttini, Pappone, Atzeni, Verlaan, Kuperus, Bieber, Ambrosino, Kiefer, Khan, Mader, Baraliakos and Bruges-Armas.)
- Published
- 2024
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39. Whole exome sequencing of patients with diffuse idiopathic skeletal hyperostosis and calcium pyrophosphate crystal chondrocalcinosis.
- Author
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Parreira B, Couto AR, Rocha F, Sousa M, Faustino V, Power DM, and Bruges-Armas J
- Subjects
- Adult, Chondrocalcinosis complications, Female, Humans, Hyperostosis, Diffuse Idiopathic Skeletal complications, Male, Chondrocalcinosis genetics, Hyperostosis, Diffuse Idiopathic Skeletal genetics, Exome Sequencing
- Abstract
Objectives: DISH/CC is a poorly understood phenotype characterised by peripheral and axial enthesopathic calcifications, frequently fulfilling the radiological criteria for Diffuse Idiopathic Skeletal Hyperostosis (DISH, MIM 106400), and in some cases associated with Calcium Pyrophosphate Dihydrate (CPPD) Chondrocalcinosis (CC). The concurrence of DISH and CC suggests a shared pathogenic mechanism. In order to identify genetic variants for susceptibility we performed whole exome sequencing in four patients showing this phenotype., Materials and Methods: Exome data were filtered in order to find a variant or a group of variants that could be associated with the DISH/CC phenotype. Variants of interest were subsequently confirmed by Sanger sequencing. Selected variants were screened in a cohort of 65 DISH/CC patients vs 118 controls from Azores. The statistical analysis was performed using PLINK V1.07., Results: We identified 21 genetic variants in 17 genes that were directly or indirectly related to mineralization, several are predicted to have a strong effect at a protein level. Phylogenetic analysis of altered amino acids indicates that these are either highly conserved in vertebrates or conserved in mammals. In case-control analyses, variant rs34473884 in PPP2R2D was significantly associated with the DISH/CC phenotype (p=0.028; OR=1.789, 95% CI= 1.060 - 3.021))., Conclusion: The results of the present and preceding studies with the DISH/CC families suggests that the phenotype has a polygenic basis. The PPP2R2D gene could be involved in this phenotype in an as yet unknown way.
- Published
- 2020
40. Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility.
- Author
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Evans DM, Spencer CC, Pointon JJ, Su Z, Harvey D, Kochan G, Oppermann U, Dilthey A, Pirinen M, Stone MA, Appleton L, Moutsianas L, Leslie S, Wordsworth T, Kenna TJ, Karaderi T, Thomas GP, Ward MM, Weisman MH, Farrar C, Bradbury LA, Danoy P, Inman RD, Maksymowych W, Gladman D, Rahman P, Morgan A, Marzo-Ortega H, Bowness P, Gaffney K, Gaston JS, Smith M, Bruges-Armas J, Couto AR, Sorrentino R, Paladini F, Ferreira MA, Xu H, Liu Y, Jiang L, Lopez-Larrea C, Díaz-Peña R, López-Vázquez A, Zayats T, Band G, Bellenguez C, Blackburn H, Blackwell JM, Bramon E, Bumpstead SJ, Casas JP, Corvin A, Craddock N, Deloukas P, Dronov S, Duncanson A, Edkins S, Freeman C, Gillman M, Gray E, Gwilliam R, Hammond N, Hunt SE, Jankowski J, Jayakumar A, Langford C, Liddle J, Markus HS, Mathew CG, McCann OT, McCarthy MI, Palmer CN, Peltonen L, Plomin R, Potter SC, Rautanen A, Ravindrarajah R, Ricketts M, Samani N, Sawcer SJ, Strange A, Trembath RC, Viswanathan AC, Waller M, Weston P, Whittaker P, Widaa S, Wood NW, McVean G, Reveille JD, Wordsworth BP, Brown MA, and Donnelly P
- Subjects
- CARD Signaling Adaptor Proteins genetics, CD8-Positive T-Lymphocytes metabolism, Case-Control Studies, Core Binding Factor Alpha 3 Subunit genetics, Disease Susceptibility, Genome-Wide Association Study, Humans, Interleukin-12 Subunit p40 genetics, Latent TGF-beta Binding Proteins genetics, Membrane Proteins genetics, Meta-Analysis as Topic, Minor Histocompatibility Antigens, Receptors, Peptide, Receptors, Prostaglandin E, EP4 Subtype genetics, Receptors, Tumor Necrosis Factor, Type I genetics, Spondylitis, Ankylosing metabolism, White People, Aminopeptidases genetics, Aminopeptidases metabolism, HLA-B27 Antigen genetics, Peptide Fragments metabolism, Polymorphism, Genetic genetics, Spondylitis, Ankylosing genetics
- Abstract
Ankylosing spondylitis is a common form of inflammatory arthritis predominantly affecting the spine and pelvis that occurs in approximately 5 out of 1,000 adults of European descent. Here we report the identification of three variants in the RUNX3, LTBR-TNFRSF1A and IL12B regions convincingly associated with ankylosing spondylitis (P < 5 × 10(-8) in the combined discovery and replication datasets) and a further four loci at PTGER4, TBKBP1, ANTXR2 and CARD9 that show strong association across all our datasets (P < 5 × 10(-6) overall, with support in each of the three datasets studied). We also show that polymorphisms of ERAP1, which encodes an endoplasmic reticulum aminopeptidase involved in peptide trimming before HLA class I presentation, only affect ankylosing spondylitis risk in HLA-B27-positive individuals. These findings provide strong evidence that HLA-B27 operates in ankylosing spondylitis through a mechanism involving aberrant processing of antigenic peptides.
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- 2011
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- View/download PDF
41. Contribution of KIR3DL1/3DS1 to ankylosing spondylitis in human leukocyte antigen-B27 Caucasian populations.
- Author
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Lopez-Larrea C, Blanco-Gelaz MA, Torre-Alonso JC, Bruges Armas J, Suarez-Alvarez B, Pruneda L, Couto AR, Gonzalez S, Lopez-Vázquez A, and Martinez-Borra J
- Subjects
- Alleles, Genotype, HLA-B Antigens genetics, Humans, Portugal, Receptors, KIR, Receptors, KIR3DL1, Receptors, KIR3DS1, Spain, Genetic Predisposition to Disease, HLA-B27 Antigen blood, Receptors, Immunologic genetics, Spondylitis, Ankylosing genetics, Spondylitis, Ankylosing immunology, White People genetics
- Abstract
Killer cell immunoglobulin-like receptors (KIRs) and human leukocyte antigen (HLA) loci are both highly polymorphic, and some HLA class I molecules bind and trigger cell-surface receptors specified by KIR genes. We examined whether the combination of KIR3DS1/3DL1 genes in concert with HLA-B27 genotypes is associated with susceptibility to ankylosing spondylitis (AS). Two HLA-B27-positive Caucasian populations were selected, one from Spain (71 patients and 105 controls) and another from the Azores (Portugal) (55 patients and 75 controls). All were typed for HLA-B and KIR (3DS1 and 3DL1) genes. Our results show that in addition to B27, the allele 3DS1 is associated with AS compared with B27 controls (p < 0.0001 and p < 0.003 in the Spanish population and Azoreans, respectively). We also observed that the association of KIR3DS1 to AS was found in combination with HLA-B alleles carrying Bw4-I80 in trans position in the Spanish population (30.9% in AS versus 15.2% in B27 controls, p = 0.02, odds ratio (OR) = 2.49) and in Azoreans (27.2% in AS versus 8.7% in B27 controls, p = 0.01, OR = 4.4 in Azoreans). On the other hand, 3DL1 was decreased in patients compared with B27 controls (p < 0.0001 in the Spanish population and p < 0.003 in Azoreans). The presence of this allele in combination with Bw4-I80 had a protective effect against the development of AS in the Spanish population (19.7% in AS, 35.2% in B27 controls; p = 0.03, OR = 0.45). The presence of KIR3DS1 or KIR3DL1 in combination with HLA-B*27s/HLA-B Bw4-I80 genotypes may modulate the development of AS. The susceptibility to AS could be determined by the overall balance of activating and inhibitory composite KIR-HLA genotypes.
- Published
- 2006
- Full Text
- View/download PDF
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