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14 results on '"Ramentol-Sintas, M"'

1. Genome-wide association study of eosinophilic granulomatosis with polyangiitis reveals genomic loci stratified by ANCA status

Author

Lyons, P, Peters, J, Alberici, F, Liley, J, Coulson, R, Astle, W, Baldini, C, Bonatti, F, Cid, M, Elding, H, Emmi, G, Epplen, J, Guillevin, L, Jayne, D, Jiang, T, Gunnarsson, I, Lamprecht, P, Leslie, S, Little, M, Martorana, D, Moosig, F, Neumann, T, Ohlsson, S, Quickert, S, Ramierez, G, Rewerska, B, Schett, G, Sinico, R, Szczeklik, W, Tesar, V, Vukcevic, D, Akil, M, Barratt, J, Basu, N, Butterworth, A, Bruce, I, Clarkson, M, Conlon, N, Dasgupta, B, Doulton, T, Espigol-Frigole, G, Flossmann, O, Gabrielli, A, Gasior, J, Gregorini, G, Guida, G, Hernandez-Rodriguez, J, Hruskova, Z, Hudson, A, Knight, A, Lanyon, P, Luqmani, R, Magliano, M, Manfredi, A, Marguerie, C, Maritati, F, Marvisi, C, Mchugh, N, Molloy, E, Motyer, A, Mukhtyar, C, Padyukov, L, Pesci, A, Prieto-Gonzalez, S, Ramentol-Sintas, M, Reis, P, Roccatello, D, Rovere-Querini, P, Salvarani, C, Santarsia, F, Solans-Laque, R, Soranzo, N, Taylor, J, Wessels, J, Zwerina, J, Terrier, B, Watts, R, Vaglio, A, Holle, J, Wallace, C, Smith, K, Lyons, PA, Peters, JE, Cid, MC, Little, MA, Ramierez, GA, Butterworth, AS, DasGupta, B, Doulton, TWR, Manfredi, AA, McHugh, NJ, Watts, RA, Holle, JU, Smith, KGC, Lyons, P, Peters, J, Alberici, F, Liley, J, Coulson, R, Astle, W, Baldini, C, Bonatti, F, Cid, M, Elding, H, Emmi, G, Epplen, J, Guillevin, L, Jayne, D, Jiang, T, Gunnarsson, I, Lamprecht, P, Leslie, S, Little, M, Martorana, D, Moosig, F, Neumann, T, Ohlsson, S, Quickert, S, Ramierez, G, Rewerska, B, Schett, G, Sinico, R, Szczeklik, W, Tesar, V, Vukcevic, D, Akil, M, Barratt, J, Basu, N, Butterworth, A, Bruce, I, Clarkson, M, Conlon, N, Dasgupta, B, Doulton, T, Espigol-Frigole, G, Flossmann, O, Gabrielli, A, Gasior, J, Gregorini, G, Guida, G, Hernandez-Rodriguez, J, Hruskova, Z, Hudson, A, Knight, A, Lanyon, P, Luqmani, R, Magliano, M, Manfredi, A, Marguerie, C, Maritati, F, Marvisi, C, Mchugh, N, Molloy, E, Motyer, A, Mukhtyar, C, Padyukov, L, Pesci, A, Prieto-Gonzalez, S, Ramentol-Sintas, M, Reis, P, Roccatello, D, Rovere-Querini, P, Salvarani, C, Santarsia, F, Solans-Laque, R, Soranzo, N, Taylor, J, Wessels, J, Zwerina, J, Terrier, B, Watts, R, Vaglio, A, Holle, J, Wallace, C, Smith, K, Lyons, PA, Peters, JE, Cid, MC, Little, MA, Ramierez, GA, Butterworth, AS, DasGupta, B, Doulton, TWR, Manfredi, AA, McHugh, NJ, Watts, RA, Holle, JU, and Smith, KGC

Abstract

Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare inflammatory disease of unknown cause. 30% of patients have anti-neutrophil cytoplasmic antibodies (ANCA) specific for myeloperoxidase (MPO). Here, we describe a genome-wide association study in 676 EGPA cases and 6809 controls, that identifies 4 EGPA-associated loci through conventional case-control analysis, and 4 additional associations through a conditional false discovery rate approach. Many variants are also associated with asthma and six are associated with eosinophil count in the general population. Through Mendelian randomisation, we show that a primary tendency to eosinophilia contributes to EGPA susceptibility. Stratification by ANCA reveals that EGPA comprises two genetically and clinically distinct syndromes. MPO+ ANCA EGPA is an eosinophilic autoimmune disease sharing certain clinical features and an HLA-DQ association with MPO+ ANCA-associated vasculitis, while ANCA-negative EGPA may instead have a mucosal/barrier dysfunction origin. Four candidate genes are targets of therapies in development, supporting their exploration in EGPA.

Published
2019

2. Genome-wide association study of eosinophilic granulomatosis with polyangiitis reveals genomic loci stratified by ANCA status

Author

Lyons, PA, Peters, JE, Alberici, F, Liley, J, Coulson, RMR, Astle, W, Baldini, C, Bonatti, F, Cid, MC, Elding, H, Emmi, G, Epplen, J, Guillevin, L, Jayne, DRW, Jiang, T, Gunnarsson, I, Lamprecht, P, Leslie, S, Little, MA, Martorana, D, Moosig, F, Neumann, T, Ohlsson, S, Quickert, S, Ramirez, GA, Rewerska, B, Schett, G, Sinico, RA, Szczeklik, W, Tesar, V, Vukcevic, D, Akil, M, Barratt, J, Basu, N, Butterworth, AS, Bruce, I, Clarkson, M, Conlon, N, DasGupta, B, Doulton, TWR, Espigol-Frigole, G, Flossmann, O, Gabrielli, A, Gasior, J, Gregorini, G, Guida, G, Hernandez-Rodriguez, J, Hruskova, Z, Hudson, A, Knight, A, Lanyon, P, Luqmani, R, Magliano, M, Manfredi, AA, Marguerie, C, Maritati, F, Marvisi, C, McHugh, NJ, Molloy, E, Motyer, A, Mukhtyar, C, Padyukov, L, Pesci, A, Prieto-Gonzalez, S, Ramentol-Sintas, M, Reis, P, Roccatello, D, Rovere-Querini, P, Salvarani, C, Santarsia, F, Solans-Laque, R, Soranzo, N, Taylor, J, Wessels, J, Zwerina, J, Terrier, B, Watts, RA, Vaglio, A, Holle, JU, Wallace, C, Smith, KGC, Lyons, PA, Peters, JE, Alberici, F, Liley, J, Coulson, RMR, Astle, W, Baldini, C, Bonatti, F, Cid, MC, Elding, H, Emmi, G, Epplen, J, Guillevin, L, Jayne, DRW, Jiang, T, Gunnarsson, I, Lamprecht, P, Leslie, S, Little, MA, Martorana, D, Moosig, F, Neumann, T, Ohlsson, S, Quickert, S, Ramirez, GA, Rewerska, B, Schett, G, Sinico, RA, Szczeklik, W, Tesar, V, Vukcevic, D, Akil, M, Barratt, J, Basu, N, Butterworth, AS, Bruce, I, Clarkson, M, Conlon, N, DasGupta, B, Doulton, TWR, Espigol-Frigole, G, Flossmann, O, Gabrielli, A, Gasior, J, Gregorini, G, Guida, G, Hernandez-Rodriguez, J, Hruskova, Z, Hudson, A, Knight, A, Lanyon, P, Luqmani, R, Magliano, M, Manfredi, AA, Marguerie, C, Maritati, F, Marvisi, C, McHugh, NJ, Molloy, E, Motyer, A, Mukhtyar, C, Padyukov, L, Pesci, A, Prieto-Gonzalez, S, Ramentol-Sintas, M, Reis, P, Roccatello, D, Rovere-Querini, P, Salvarani, C, Santarsia, F, Solans-Laque, R, Soranzo, N, Taylor, J, Wessels, J, Zwerina, J, Terrier, B, Watts, RA, Vaglio, A, Holle, JU, Wallace, C, and Smith, KGC

Abstract

Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare inflammatory disease of unknown cause. 30% of patients have anti-neutrophil cytoplasmic antibodies (ANCA) specific for myeloperoxidase (MPO). Here, we describe a genome-wide association study in 676 EGPA cases and 6809 controls, that identifies 4 EGPA-associated loci through conventional case-control analysis, and 4 additional associations through a conditional false discovery rate approach. Many variants are also associated with asthma and six are associated with eosinophil count in the general population. Through Mendelian randomisation, we show that a primary tendency to eosinophilia contributes to EGPA susceptibility. Stratification by ANCA reveals that EGPA comprises two genetically and clinically distinct syndromes. MPO+ ANCA EGPA is an eosinophilic autoimmune disease sharing certain clinical features and an HLA-DQ association with MPO+ ANCA-associated vasculitis, while ANCA-negative EGPA may instead have a mucosal/barrier dysfunction origin. Four candidate genes are targets of therapies in development, supporting their exploration in EGPA.

Published
2019

3. A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis

Author

Carmona, DF, Vaglio, A, Mackie, SL, Hernández-Rodríguez, J, Monach, PA, Castaneda, S, Solans, R, Morado, IC, Narvaez, J, Ramentol-Sintas, M, Pease, CT, Dasgupta, B, Watts, R, Khalidi, N, Langford, CA, Ytterberg, S, Boiardi, L, Beretta, L, Govoni, M, Emmi, G, Bonatti, F, Cimmino, MA, Witte, T, Neumann, T, Holle, A, Schonau, V, Sailler, L, Papo, T, Haroche, J, Mahr, A, Mouthon, L, Molberg, O, Diamantopoulos, AP, Voskuyl, A, Brouwer, E, Daikeler, T, Berger, CT, Molloy, ES, O'Neill, L, Blockmans, D, Lie, BA, Mclaren, P, Vyse, TJ, Wijmenga, C, Allanore, Y, Koeleman, BPC, Spanish CGA Group, UKGCA Consortium, Vasculitis Clinical Research Consortium, Barrett, JH, Cid, MC, Salvarini, C, Merkel, PA, Morgan, AW, Gonzalez-Gay, MA, and Martin, J

Subjects
Genetics, Journal Article, Genetics(clinical)
Abstract

Giant cell arteritis (GCA) is the most common form of vasculitis in individuals older than 50 years in Western countries. To shed light onto the genetic background influencing susceptibility for GCA, we performed a genome-wide association screening in a well-powered study cohort. After imputation, 1,844,133 genetic variants were analyzed in 2,134 case subjects and 9,125 unaffected individuals from ten independent populations of European ancestry. Our data confirmed HLA class II as the strongest associated region (independent signals: rs9268905, p = 1.94 × 10−54, per-allele OR = 1.79; and rs9275592, p = 1.14 × 10−40, OR = 2.08). Additionally, PLG and P4HA2 were identified as GCA risk genes at the genome-wide level of significance (rs4252134, p = 1.23 × 10−10, OR = 1.28; and rs128738, p = 4.60 × 10−9, OR = 1.32, respectively). Interestingly, we observed that the association peaks overlapped with different regulatory elements related to cell types and tissues involved in the pathophysiology of GCA. PLG and P4HA2 are involved in vascular remodelling and angiogenesis, suggesting a high relevance of these processes for the pathogenic mechanisms underlying this type of vasculitis.

Published
2017

4. A Large-Scale Genetic Analysis Reveals a Strong Contribution of the HLA Class II Region to Giant Cell Arteritis Susceptibility

Author

David Carmona, F, Mackie, SL, Martin, J-E, Taylor, JC, Vaglio, A, Eyre, S, Bossini-Castillo, L, Castaneda, S, Cid, MC, Hernandez-Rodriguez, J, Prieto-Gonzalez, S, Solans, R, Ramentol-Sintas, M, Francisca Gonzalez-Escribano, M, Ortiz-Fernandez, L, Morado, IC, Narvaez, J, Miranda-Filloy, JA, Beretta, L, Lunardi, C, Cimmino, MA, Gianfreda, D, Santilli, D, Ramirez, GA, Soriano, A, Muratore, F, Pazzola, G, Addimanda, O, Wijmenga, C, Witte, T, Schirmer, JH, Moosig, F, Schoenau, V, Franke, A, Palm, O, Molberg, O, Diamantopoulos, AP, Carette, S, Cuthbertson, D, Forbess, LJ, Hoffman, GS, Khalidi, NA, Koening, CL, Langford, CA, McAlear, CA, Moreland, L, Monach, PA, Pagnoux, C, Seo, P, Spiera, R, Sreih, AG, Warrington, KJ, Ytterberg, SR, Gregersen, PK, Pease, CT, Gough, A, Green, M, Hordon, L, Jarrett, S, Watts, R, Levy, S, Patel, Y, Kamath, S, Dasgupta, B, Worthington, J, Koeleman, BPC, de Bakker, PIW, Barrett, JH, Salvarani, C, Merkel, PA, Gonzalez-Gay, MA, Morgan, AW, Martin, J, Carmona, F. David, Mackie, Sarah L., Martín, Jose-Ezequiel, Taylor, John C., Vaglio, Augusto, Eyre, Stephen, Bossini-Castillo, Lara, Castañeda, Santo, Cid, Maria C., Hernández-Rodríguez, José, Prieto-González, Sergio, Solans, Roser, Ramentol-Sintas, Marc, González-Escribano, M. Francisca, Ortiz-Fernández, Lourde, Morado, Inmaculada C., Narváez, Javier, Miranda-Filloy, José A., Beretta, Lorenzo, Lunardi, Claudio, Cimmino, Marco A., Gianfreda, Davide, Santilli, Daniele, Ramirez, Giuseppe A., Soriano, Alessandra, Muratore, Francesco, Pazzola, Giulia, Addimanda, Olga, Wijmenga, Cisca, Witte, Torsten, Schirmer, Jan H., Moosig, Frank, Schönau, Verena, Franke, Andre, Palm, Oyvind, Molberg, Oyvind, Diamantopoulos, Andreas P., Carette, Simon, Cuthbertson, David, Forbess, Lindsy J., Hoffman, Gary S., Khalidi, Nader A., Koening, Curry L., Langford, Carol A., Mcalear, Carol A., Moreland, Larry, Monach, Paul A., Pagnoux, Christian, Seo, Philip, Spiera, Robert, Sreih, Antoine G., Warrington, Kenneth J., Ytterberg, Steven R., Gregersen, Peter K., Pease, Colin T., Gough, Andrew, Green, Michael, Hordon, Lesley, Jarrett, Stephen, Watts, Richard, Levy, Sarah, Patel, Yusuf, Kamath, Sanjeet, Dasgupta, Bhaskar, Worthington, Jane, Koeleman, Bobby P.C., De Bakker, Paul I.W., Barrett, Jennifer H., Salvarani, Carlo, Merkel, Peter A., González-Gay, Miguel A., Morgan, Ann W., and Martín, Javier

Subjects
Multifactorial Inheritance, Genotype, European Continental Ancestry Group, Genes, MHC Class II, Giant Cell Arteritis, Genetic Association Studie, Article, White People, MHC Class II, Cohort Studies, Genetic, Genes, Genetic Association Studies, Humans, Multivariate Analysis, Odds Ratio, Genetics, Genetics(clinical), Cohort Studie, Multivariate Analysi, Giant Cell Arteriti, Genetics (clinical), Human
Abstract

We conducted a large-scale genetic analysis on giant cell arteritis (GCA), a polygenic immune-mediated vasculitis. A case-control cohort, comprising 1,651 case subjects with GCA and 15,306 unrelated control subjects from six different countries of European ancestry, was genotyped by the Immunochip array. We also imputed HLA data with a previously validated imputation method to perform a more comprehensive analysis of this genomic region. The strongest association signals were observed in the HLA region, with rs477515 representing the highest peak (p = 4.05 × 10(-40), OR = 1.73). A multivariate model including class II amino acids of HLA-DRβ1 and HLA-DQα1 and one class I amino acid of HLA-B explained most of the HLA association with GCA, consistent with previously reported associations of classical HLA alleles like HLA-DRB1(∗)04. An omnibus test on polymorphic amino acid positions highlighted DRβ1 13 (p = 4.08 × 10(-43)) and HLA-DQα1 47 (p = 4.02 × 10(-46)), 56, and 76 (both p = 1.84 × 10(-45)) as relevant positions for disease susceptibility. Outside the HLA region, the most significant loci included PTPN22 (rs2476601, p = 1.73 × 10(-6), OR = 1.38), LRRC32 (rs10160518, p = 4.39 × 10(-6), OR = 1.20), and REL (rs115674477, p = 1.10 × 10(-5), OR = 1.63). Our study provides evidence of a strong contribution of HLA class I and II molecules to susceptibility to GCA. In the non-HLA region, we confirmed a key role for the functional PTPN22 rs2476601 variant and proposed other putative risk loci for GCA involved in Th1, Th17, and Treg cell function.

Published
2015

6. Genome-wide association study of eosinophilic granulomatosis with polyangiitis reveals genomic loci stratified by ANCA status

Author

Lyons, P. A., Peters, J. E., Alberici, F., Liley, J., Coulson, R. M. R., Astle, W., Baldini, C., Bonatti, F., Cid, María Cinta, Elding, H., Emmi, G., Epplen, J., Guillevin, L., Jayne, D. R. W., Jiang, T., Gunnarsson, I., Lamprecht, P., Leslie, S., Little, M. A., Martorana, D., Moosig, F., Neumann, T., Ohlsson, S., Quickert, S., Ramirez, G. A., Rewerska, B., Schett, George, Sinico, R. A., Szczeklik, W., Tesar, Vladimir, Vukcevic, D., Akil, M., Barratt, J., Basu, N., Butterworth, A. S., Bruce, I., Clarkson, M., Conlon, N., DasGupta, B., Doulton, T. W. R., Espígol-Frigolé, Georgina, Flossmann, O., Gabrielli, A., Gasior, J., Gregorini, G., Guida, G., Hernández Rodríguez, José, Hruskova, Z., Hudson, A., Knight, A., Lanyon, P., Luqmani, R., Magliano, M., Manfredi, A. A., Marguerie, C., Maritati, F., Marvisi, C., McHugh, N. J., Molloy, E., Motyer, A., Mukhtyar, C., Padyukov, Leonid, Pesci, Alberto, Prieto-Gonzalez, S., Ramentol-Sintas, Marc, Reis, P., Roccatello, D., Rovere-Querini, P., Salvarani, C., Santarsia, F., Solans, Roser, Soranzo, N., Taylor, J., Wessels, J., Zwerina, J., Terrier, B., Watts, R. A., Vaglio, A., Holle, J. U., Wallace, C., Smith, K. G. C., Universitat Autònoma de Barcelona, Lyons, P. A., Peters, J. E., Alberici, F., Liley, J., Coulson, R. M. R., Astle, W., Baldini, C., Bonatti, F., Cid, M. C., Elding, H., Emmi, G., Epplen, J., Guillevin, L., Jayne, D. R. W., Jiang, T., Gunnarsson, I., Lamprecht, P., Leslie, S., Little, M. A., Martorana, D., Moosig, F., Neumann, T., Ohlsson, S., Quickert, S., Ramirez, G. A., Rewerska, B., Schett, G., Sinico, R. A., Szczeklik, W., Tesar, V., Vukcevic, D., Akil, M., Barratt, J., Basu, N., Butterworth, A. S., Bruce, I., Clarkson, M., Conlon, N., Dasgupta, B., Doulton, T. W. R., Espigol-Frigole, G., Flossmann, O., Gabrielli, A., Gasior, J., Gregorini, G., Guida, G., Hernandez-Rodriguez, J., Hruskova, Z., Hudson, A., Knight, A., Lanyon, P., Luqmani, R., Magliano, M., Manfredi, A. A., Marguerie, C., Maritati, F., Marvisi, C., Mchugh, N. J., Molloy, E., Motyer, A., Mukhtyar, C., Padyukov, L., Pesci, A., Prieto-Gonzalez, S., Ramentol-Sintas, M., Reis, P., Roccatello, D., Rovere-Querini, P., Salvarani, C., Santarsia, F., Solans-Laque, R., Soranzo, N., Taylor, J., Wessels, J., Zwerina, J., Terrier, B., Watts, R. A., Vaglio, A., Holle, J. U., Wallace, C., Smith, K. G. C., Lyons, P, Peters, J, Alberici, F, Liley, J, Coulson, R, Astle, W, Baldini, C, Bonatti, F, Cid, M, Elding, H, Emmi, G, Epplen, J, Guillevin, L, Jayne, D, Jiang, T, Gunnarsson, I, Lamprecht, P, Leslie, S, Little, M, Martorana, D, Moosig, F, Neumann, T, Ohlsson, S, Quickert, S, Ramierez, G, Rewerska, B, Schett, G, Sinico, R, Szczeklik, W, Tesar, V, Vukcevic, D, Akil, M, Barratt, J, Basu, N, Butterworth, A, Bruce, I, Clarkson, M, Conlon, N, Dasgupta, B, Doulton, T, Espigol-Frigole, G, Flossmann, O, Gabrielli, A, Gasior, J, Gregorini, G, Guida, G, Hernandez-Rodriguez, J, Hruskova, Z, Hudson, A, Knight, A, Lanyon, P, Luqmani, R, Magliano, M, Manfredi, A, Marguerie, C, Maritati, F, Marvisi, C, Mchugh, N, Molloy, E, Motyer, A, Mukhtyar, C, Padyukov, L, Pesci, A, Prieto-Gonzalez, S, Ramentol-Sintas, M, Reis, P, Roccatello, D, Rovere-Querini, P, Salvarani, C, Santarsia, F, Solans-Laque, R, Soranzo, N, Taylor, J, Wessels, J, Zwerina, J, Terrier, B, Watts, R, Vaglio, A, Holle, J, Wallace, C, Smith, K, and United Kingdom Research and Innovation

Subjects
0301 basic medicine, Candidate gene, Antineutrophil Cytoplasmic, General Physics and Astronomy, Genome-wide association study, Autoimmunity, Genome-wide association studies, 0302 clinical medicine, Rheumatic diseases, immune system diseases, Eosinophilic, Eosinophilia, lcsh:Science, education.field_of_study, Multidisciplinary, Genome-wide association, eosinophilic granulomatosis with polyangiitis, ANCA status, 3. Good health, medicine.symptom, Vasculitis, Granulomatosis with polyangiitis, Antibodies, Antineutrophil Cytoplasmic, Eosinophils, Genetic Association Studies, Granulomatosis with Polyangiitis, Humans, Mendelian Randomization Analysis, Genetic Loci, Genetic Predisposition to Disease, Genome-Wide Association Study, European Vasculitis Genetics Consortium, Science, Population, General Biochemistry, Genetics and Molecular Biology, Article, Antibodies, 03 medical and health sciences, medicine, Immunogenetics, education, Rheumatology and Autoimmunity, Anti-neutrophil cytoplasmic antibody, 030203 arthritis & rheumatology, Reumatologi och inflammation, business.industry, General Chemistry, medicine.disease, respiratory tract diseases, 030104 developmental biology, Immunology, EGPA, HLA, ANCA, genetics, lcsh:Q, business
Abstract

Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare inflammatory disease of unknown cause. 30% of patients have anti-neutrophil cytoplasmic antibodies (ANCA) specific for myeloperoxidase (MPO). Here, we describe a genome-wide association study in 676 EGPA cases and 6809 controls, that identifies 4 EGPA-associated loci through conventional case-control analysis, and 4 additional associations through a conditional false discovery rate approach. Many variants are also associated with asthma and six are associated with eosinophil count in the general population. Through Mendelian randomisation, we show that a primary tendency to eosinophilia contributes to EGPA susceptibility. Stratification by ANCA reveals that EGPA comprises two genetically and clinically distinct syndromes. MPO+ ANCA EGPA is an eosinophilic autoimmune disease sharing certain clinical features and an HLA-DQ association with MPO+ ANCA-associated vasculitis, while ANCA-negative EGPA may instead have a mucosal/barrier dysfunction origin. Four candidate genes are targets of therapies in development, supporting their exploration in EGPA., Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare inflammatory disorder characterised by asthma, eosinophilia and vasculitis. Here, the authors describe a genome-wide association study of EGPA that reveals clinical and genetic differences between subgroups stratified by autoantibody status (ANCA).

Published
2019

7. Model d’atenció a l’endometriosi a Catalunya

Author

Álvarez-Castaño, Elena, Brescó-Torras, Pere, Carmona-Herrera, Francisco, Casals-Soler, Gemma, Martínez-Zamora, M. Àngels, Pérez González, Amelia, Escuriet-Peiró, Ramon, Guarga-Rojas, Alejandro, Lacasa-Plana, Carmen, Padró Pitarch, Lydia, Fernàndez-Montolí, M. Eulàlia, Herrero-Garcia, Julio, Suarez Salvador, Elena, Munrós Feliu, Jordina, Pipo-Ramírez, Cristina, Puente-Arias, Anna, Mompart-Penina, Anna, Rubio-Cillán, Anna, Roca-Amatria, Gisela, Romero-Cullerés, Georgia, Ramentol-Sintas, Marc, [Álvarez-Castaño E] Hospital Universitari de Girona Doctor Josep Trueta, Girona, Spain. [Brescó-Torras P] Hospital d’Igualada, Igualada, Spain. [Carmona-Herrera F, Casals-Soler G, Martínez-Zamora MA, Pérez-González A] Hospital Clínic de Barcelona, Barcelona, Spain. [Escuriet-Peiró R, Guarga-Rojas A, Lacasa-Planas C, Padró-Pitarch L] Àrea d’Atenció Sanitària, Servei Català de la Salut (CatSalut), Departament de Salut, Generalitat de Catalunya, Barcelona, Spain. [Fernàndez-Montolí ME] Hospital Universitari de Bellvitge, L’Hospitalet de Llobregat, Spain. [Herrero-Garcia J, Suàrez-Salvador E] Hospital Universitari Vall d’Hebron, Barcelona, Spain. [Munrós Feliu J] SAP Muntanya, Institut Català de la Salut, Servei Català de la Salut (CatSalut), Departament de Salut, Generalitat de Catalunya, Barcelona, Spain. [Pipo-Ramírez, C] Hospital Universitari Parc Taulí, Sabadell, Spain. [Puente-Arias A, Mompart-Penina A, Rubio-Cillán A] Sub-direcció General de la Cartera de Serveis i el Mapa Sanitari, Direcció General de Planificació en Salut, Departament de Salut, Generalitat de Catalunya, Barcelona, Spain. [Roca-Amatria G] Hospital Can Ruti, Badalona, Spain. [Romero-Cullerés, G] Xarxa Hospitalària Universitària de Manresa, Grup Althaia, Manresa, Spain. [Ramentol-Sintas, M] Oficina Anàlisi i estratègia, Departament de Salut, Generalitat de Catalunya, Barcelona, Spain., and Departament de Salut

Subjects
Female Urogenital Diseases and Pregnancy Complications::Female Urogenital Diseases::Genital Diseases, Female::Endometriosis [DISEASES], Therapeutics::Clinical Protocols [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES AND EQUIPMENT], terapéutica::protocolos clínicos [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS], Protocols clínics, Endometriosi, enfermedades de los genitales femeninos y complicaciones del embarazo::enfermedades urogenitales femeninas::enfermedades de los genitales femeninos::endometriosis [ENFERMEDADES]
Abstract

Endometriosi; Planificació sanitària; Model d'atenció Endometriosis; Planificación sanitaria; Modelo de atención Endometriosis; Health planning; Attention model El Model d’atenció a l’endometriosi a Catalunya estableix les bases per a l’ordenació dels serveis assistencials que intervenen en el procés integral d’atenció a les dones afectades amb endometriosi, inclou aspectes clínics, aspectes assistencials i aspectes d’ordenació de circuits assistencials, que venen determinats per les actuacions necessàries per donar una atenció integral a les dones afectades.

Published
2018

8. Protocol d'actuació davant de casos de febre vírica de Zika en l'àmbit obstètric i pediàtric de Catalunya

Author

Bardají-Alonso, Azucena, Bernárdez, Sílvia, Carreras Moratonas, Elena, Coma-Colom, Concepció, Costa-Sampere, Dolors, Falguera-Puig, Gemma, Fumadó-Pérez, Victòria, Goncé, Anna, Jané-Checa, Mireia, Maresma-Soler, Mar, Martínez-Mateo, Anna, Moraga Llop, Fernando, Morral-Parente, Rosa M., Ramentol-Sintas, Marc, Rodrigo Gonzalo de Liria, Carlos, Suy Franch, Anna, Torner-Gràcia, Núria, Rodó Rodríguez, Carlota, [Bardají-Alonso A] Institut de Salut Global, Barcelona, Spain. [Bernárdez S, Coma-Colom C] Associació Catalana d’Infermeria Pediàtrica (ACIP), Reus, Spain. [Carreras-Moratonas E] Societat Catalana d’Obstetrícia i Ginecologia, Barcelona, Spain. [Costa-Sampere D] Institut Català de la Salut (ICS), Barcelona, Spain. [Falguera-Puig G] Associació Catalana de Llevadores, Barcelona, Spain. [Fumadó-Pérez V] Unitat Nacional de Referència de Malalties Tropicals, Hospital Clínic-Sant Joan de Déu, Barcelona, Spain. [Goncé-Mellgren A] Medicina maternofetal, Hospital Clínic, Barcelona, Spain. [Jané-Checa M, Maresma-Soler M] Subdirecció General de Vigilància i Resposta a Emergències de Salut Pública, Agència de Salut Pública de Catalunya, Departament de Salut, Generalitat de Catalunya, Barcelona, Spain. [Martínez-Mateo A, Torner-Gràcia N] Subdirecció General de Vigilància i Resposta a Emergències de Salut Pública, Agència de Salut Pública de Catalunya, Departament de Salut, Generalitat de Catalunya, Barcelona, Spain. CIBER Epidemiologia y Salud Pública (CIBERESP), Madrid, Spain. [Moraga-Llop F] Societat Catalana de Pediatria, Barcelona, Spain. [Morral-Parente RM] Àrea d’Atenció Primària i d’Atenció a la Comunitat, Institut Català de la Salut (ICS), Barcelona, Spain. [Ramentol-Sintas M] Gabinet del Conseller de Salut, Departament de Salut, Generalitat de Catalunya, Barcelona, Spain. [Rodó Rodríguez. C] Unitat Medicina Fetal, Hospital Vall d’Hebron, Barcelona. Spain. [Rodrigo-Gonzalo-de-Liria C] Servei de Pediatria, Hospital Universitari Vall d’Hebron, Barcelona, Spain. [Suy-Franch A] Unitat d’Infeccions Maternes i Gestació, Hospital Universitari Vall d’Hebron, Barcelona, Spain, and Departament de Salut

Subjects
Other subheadings::Other subheadings::/prevention & control [Other subheadings], Otros calificadores::Otros calificadores::/prevención & control [Otros calificadores], viruses, Virus Diseases::RNA Virus Infections::Hemorrhagic Fevers, Viral [DISEASES], virosis::infecciones por virus ARN::fiebres hemorrágicas víricas [ENFERMEDADES], Febres hemorràgiques - Prevenció, Health Care (Public Health)::Health of Specific Groups::Child Health [PUBLIC HEALTH], Hospitals - Serveis d'obstetrícia i ginecologia, atención a la salud (salud pública)::salud de grupos específicos::salud del niño [SALUD PÚBLICA], Infants - Malalties - Prevenció
Abstract

Virus del Zika; Obstetrícia; Pediatria Zika virus; Obstetrics; Pediatrics Obstetricia; Pediatría Aquest document dóna recomanacions d'actuació per a la prevenció, detecció i tractament del virus del Zika a Catalunya.

Published
2016

9. Utility of lymphocyte phenotype profile to differentiate primary Sjögren's syndrome from sicca syndrome.

Author

Loureiro-Amigo J, Palacio-García C, Martínez-Gallo M, Martínez-Valle F, Ramentol-Sintas M, and Soláns-Laqué R

Subjects
Adult, Aged, Diagnosis, Differential, Female, Flow Cytometry, Follow-Up Studies, Humans, Keratoconjunctivitis Sicca immunology, Lymphocyte Subsets immunology, Male, Middle Aged, ROC Curve, Retrospective Studies, Sjogren's Syndrome immunology, Keratoconjunctivitis Sicca diagnosis, Lymphocyte Subsets pathology, Sjogren's Syndrome diagnosis
Abstract

Objective: To assess the potential diagnostic utility of advanced lymphocyte profiling to differentiate between primary Sjögren's Syndrome (pSS) and non-Sjögren Sicca syndrome., Methods: Distribution of peripheral lymphocyte subpopulations was analysed by flow cytometry in 68 patients with pSS, 26 patients with sicca syndrome and 23 healthy controls. The ability to discriminate between pSS and sicca syndrome was analysed using the area under the curve (AUC) of the receiver operating characteristic curve of the different lymphocyte subsets., Results: The ratio between naïve/memory B cell proportions showed an AUC of 0.742 to differentiate pSS and sicca syndrome, with a sensitivity of 76.6% and a specificity of 72% for a cut-off value of 3.4. The ratio of non-switched memory B cells to activated CD4+ T cells percentage (BNSM/CD4ACT) presented the highest AUC (0.840) with a sensitivity of 83.3% and specificity of 81.7% for a cut-off value <4.1. To differentiate seronegative pSS patients from sicca patients, the BNSM/CD4ACT ratio exhibited an AUC of 0.742 (sensitivity 75%, specificity 66.7%, cut-off value <4.4), and the number of naïve CD4 T cells had an AUC of 0.821 (sensitivity 76.9%, specificity 88.9%, cut-off value <312/mm3)., Conclusion: Patients with pSS show a profound imbalance in the distribution of circulating T and B lymphocyte subsets. The ratio BNSM/CD4ACT is useful to discriminate between pSS and sicca syndrome., (© The Author(s) 2021. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For permissions, please email: journals.permissions@oup.com.)

Published
2021
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10. Effectiveness of a multidisciplinary educational intervention in patients with hip fracture: SWEET HOME study.

Author

Sanclemente-Boli T, Ponce-Ruiz S, Álvarez-Lorenzo C, Zuriguel-Pérez E, Tapia-Melenchon R, Ramentol-Sintas M, Villar-Casares MDM, Teixidor-Serra J, Molero-García V, Sánchez-Raya J, Lalueza-Broto P, Ginés-Puertas À, Garrido-Clua M, and Mestre-Torres J

Subjects
Aged, Aged, 80 and over, Female, Humans, Male, Patient Care Team, Patient Discharge, Hip Fractures therapy, Home Care Services, Patient Education as Topic
Abstract

Background and Objective: Hip fracture is a common injury among elderly patients. The main goal of our study was to assess the effectiveness of a multidisciplinary educational intervention aimed at hip fracture patients to promote home discharges and reduce in-hospital complications., Material and Method: A quasi-experimental study was performed by taking repeated measurements at hospital admission, at hospital discharge, and at both 30days and one year of discharge. Patients aged ≥65years with hip fracture who were admitted to the Orthogeriatric Service between February 2016 and January 2017 were included in the study. The educational intervention consisted in two coordinated actions: patient education administered during their hospitalization and multimodal support provided during their discharge home., Results: A total of 67 patients were included in the study (77.6% of whom were women; 84.19±7,78 years old). Of these, 70.1% were discharged home, which doubles the figures recorded in the 2014-2015 period. The rate of readmission at 30days and one year of the discharge was 8.5%. At the one-year follow-up, the patient's dependence to perform basic activities of daily living was nearer to the pre-fracture level (Barthel: 86.67±19.31; 94.33±14.66), their mobility had improved in comparison with the time of discharge (Parker: 4.73±1.84; 6.73±2.76; Timed Up and Go Test: 38.29±21.27; 21.91±10.97), and their cognitive function had not worsened significantly. The patient education measures improved the patients' autonomy as perceived by the patients, the caregivers, and the healthcare providers. Satisfaction with the healthcare received was high., Conclusions: As a novelty to the already described benefits in orthogeriatric care models, this study would contribute by proving an increase of the number of patients discharged home in a safe condition., (Copyright © 2019 The Authors. Published by Elsevier España, S.L.U. All rights reserved.)

Published
2019
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11. A Genome-wide Association Study Identifies Risk Alleles in Plasminogen and P4HA2 Associated with Giant Cell Arteritis.

Author

Carmona FD, Vaglio A, Mackie SL, Hernández-Rodríguez J, Monach PA, Castañeda S, Solans R, Morado IC, Narváez J, Ramentol-Sintas M, Pease CT, Dasgupta B, Watts R, Khalidi N, Langford CA, Ytterberg S, Boiardi L, Beretta L, Govoni M, Emmi G, Bonatti F, Cimmino MA, Witte T, Neumann T, Holle J, Schönau V, Sailler L, Papo T, Haroche J, Mahr A, Mouthon L, Molberg Ø, Diamantopoulos AP, Voskuyl A, Brouwer E, Daikeler T, Berger CT, Molloy ES, O'Neill L, Blockmans D, Lie BA, Mclaren P, Vyse TJ, Wijmenga C, Allanore Y, Koeleman BPC, Barrett JH, Cid MC, Salvarani C, Merkel PA, Morgan AW, González-Gay MA, and Martín J

Subjects
Aged, Aged, 80 and over, Cohort Studies, Europe ethnology, Female, Humans, Male, Neovascularization, Physiologic, Polymorphism, Single Nucleotide genetics, Risk, Alleles, Genetic Predisposition to Disease genetics, Genetic Variation, Genome-Wide Association Study, Giant Cell Arteritis genetics, Plasminogen genetics, Prolyl Hydroxylases genetics
Abstract

Giant cell arteritis (GCA) is the most common form of vasculitis in individuals older than 50 years in Western countries. To shed light onto the genetic background influencing susceptibility for GCA, we performed a genome-wide association screening in a well-powered study cohort. After imputation, 1,844,133 genetic variants were analyzed in 2,134 case subjects and 9,125 unaffected individuals from ten independent populations of European ancestry. Our data confirmed HLA class II as the strongest associated region (independent signals: rs9268905, p = 1.94 × 10 -54 , per-allele OR = 1.79; and rs9275592, p = 1.14 × 10 -40 , OR = 2.08). Additionally, PLG and P4HA2 were identified as GCA risk genes at the genome-wide level of significance (rs4252134, p = 1.23 × 10 -10 , OR = 1.28; and rs128738, p = 4.60 × 10 -9 , OR = 1.32, respectively). Interestingly, we observed that the association peaks overlapped with different regulatory elements related to cell types and tissues involved in the pathophysiology of GCA. PLG and P4HA2 are involved in vascular remodelling and angiogenesis, suggesting a high relevance of these processes for the pathogenic mechanisms underlying this type of vasculitis., (Copyright © 2017 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)

Published
2017
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12. A large-scale genetic analysis reveals a strong contribution of the HLA class II region to giant cell arteritis susceptibility.

Author

Carmona FD, Mackie SL, Martín JE, Taylor JC, Vaglio A, Eyre S, Bossini-Castillo L, Castañeda S, Cid MC, Hernández-Rodríguez J, Prieto-González S, Solans R, Ramentol-Sintas M, González-Escribano MF, Ortiz-Fernández L, Morado IC, Narváez J, Miranda-Filloy JA, Beretta L, Lunardi C, Cimmino MA, Gianfreda D, Santilli D, Ramirez GA, Soriano A, Muratore F, Pazzola G, Addimanda O, Wijmenga C, Witte T, Schirmer JH, Moosig F, Schönau V, Franke A, Palm Ø, Molberg Ø, Diamantopoulos AP, Carette S, Cuthbertson D, Forbess LJ, Hoffman GS, Khalidi NA, Koening CL, Langford CA, McAlear CA, Moreland L, Monach PA, Pagnoux C, Seo P, Spiera R, Sreih AG, Warrington KJ, Ytterberg SR, Gregersen PK, Pease CT, Gough A, Green M, Hordon L, Jarrett S, Watts R, Levy S, Patel Y, Kamath S, Dasgupta B, Worthington J, Koeleman BP, de Bakker PI, Barrett JH, Salvarani C, Merkel PA, González-Gay MA, Morgan AW, and Martín J

Subjects
Cohort Studies, Genetic Association Studies, Genotype, Humans, Multivariate Analysis, Odds Ratio, White People genetics, Genes, MHC Class II genetics, Giant Cell Arteritis genetics, Multifactorial Inheritance genetics
Abstract

We conducted a large-scale genetic analysis on giant cell arteritis (GCA), a polygenic immune-mediated vasculitis. A case-control cohort, comprising 1,651 case subjects with GCA and 15,306 unrelated control subjects from six different countries of European ancestry, was genotyped by the Immunochip array. We also imputed HLA data with a previously validated imputation method to perform a more comprehensive analysis of this genomic region. The strongest association signals were observed in the HLA region, with rs477515 representing the highest peak (p = 4.05 × 10(-40), OR = 1.73). A multivariate model including class II amino acids of HLA-DRβ1 and HLA-DQα1 and one class I amino acid of HLA-B explained most of the HLA association with GCA, consistent with previously reported associations of classical HLA alleles like HLA-DRB1(∗)04. An omnibus test on polymorphic amino acid positions highlighted DRβ1 13 (p = 4.08 × 10(-43)) and HLA-DQα1 47 (p = 4.02 × 10(-46)), 56, and 76 (both p = 1.84 × 10(-45)) as relevant positions for disease susceptibility. Outside the HLA region, the most significant loci included PTPN22 (rs2476601, p = 1.73 × 10(-6), OR = 1.38), LRRC32 (rs10160518, p = 4.39 × 10(-6), OR = 1.20), and REL (rs115674477, p = 1.10 × 10(-5), OR = 1.63). Our study provides evidence of a strong contribution of HLA class I and II molecules to susceptibility to GCA. In the non-HLA region, we confirmed a key role for the functional PTPN22 rs2476601 variant and proposed other putative risk loci for GCA involved in Th1, Th17, and Treg cell function., (Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)

Published
2015
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13. Histiocytoid Sweet syndrome and cutaneous polyarteritis nodosa secondary to myelodysplastic syndrome.

Author

Pinal-Fernandez I, Ferrer Fabrega B, Ramentol Sintas M, and Solans Laque R

Subjects
Aged, Humans, Immunosuppressive Agents therapeutic use, Male, Myelodysplastic Syndromes diagnosis, Myelodysplastic Syndromes drug therapy, Polyarteritis Nodosa diagnosis, Polyarteritis Nodosa drug therapy, Sweet Syndrome diagnosis, Sweet Syndrome drug therapy, Treatment Outcome, Myelodysplastic Syndromes complications, Polyarteritis Nodosa etiology, Sweet Syndrome etiology
Published
2013
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14. Churg-Strauss Syndrome: an evolving paradigm.

Author

Ramentol-Sintas M, Martínez-Valle F, and Solans-Laqué R

Subjects
Animals, Antibodies, Antineutrophil Cytoplasmic immunology, Asthma complications, B-Lymphocytes immunology, B-Lymphocytes metabolism, Cell Communication, Chemokines, CC immunology, Chemokines, CC metabolism, Churg-Strauss Syndrome complications, Eosinophils immunology, Eosinophils metabolism, Humans, Th17 Cells immunology, Th17 Cells metabolism, Th2 Cells immunology, Th2 Cells metabolism, Churg-Strauss Syndrome etiology
Abstract

The Churg-Strauss Syndrome is an ANCA-associated vasculitis, an inflammatory multisystem disease with preference to the respiratory tract. Peripheral and tissue eosinophilia are the pathological hallmarks of this condition. The etiopathogenesis is unknown but some cytokines appear to play a central role and could be targets for new therapies., (Copyright © 2012 Elsevier B.V. All rights reserved.)

Published
2012
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