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5. Capítulo 136 - Vasculitis

Author

Cid Xutglà, M.ªC., Solans Laqué, R., Hernández Rodríguez, J., Espígol-Frigolé, G., Cervera Segura, R., Selva O’Callaghan, A., Pons-Estel, G.J., and Pons-Estel, B.A.

Published
2024
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6. Genotype-phenotype correlation and allele dating analysis of a novel variant in hypertrophic cardiomyopathy: p.Arg652Lys in MYH7

Author

Antoniutti, G, primary, Caimi-Martinez, F, additional, Alvarez-Rubio, J, additional, Morlanes-Gracia, P, additional, Pons-Llinares, J, additional, Rodriguez-Picon, B, additional, Fortuny-Frau, E, additional, Torres-Juan, L, additional, Hernandez-Rodriguez, J, additional, Heine-Suner, D, additional, and Ripoll-Vera, T, additional

Published
2022
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7. 135 - Vasculitis

Author

Cid Xutglà, M.ªC., Solans Laqué, R., Hernández rodríguez, J., Cervera Segura, R., Selva O’Callaghan, A., Pons-Estel, G.J., and Pons-Estel, B.A.

Published
2020
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8. Increased expression of the endothelin system in arterial lesions from patients with giant-cell arteritis: association between elevated plasma endothelin levels and the development of ischaemic events

Author

Lozano, E., Segarra, M., Corbera-Bellalta, M., Garcia-Martinez, A., Espigol-Frigole, G., Pla-Campo, A., Hernandez-Rodriguez, J., and Cid, M.C.

Subjects
Giant cell arteritis -- Development and progression, Giant cell arteritis -- Complications and side effects, Giant cell arteritis -- Research, Endothelin -- Physiological aspects, Endothelin -- Research, Gene expression -- Research, Myocardial ischemia -- Risk factors, Myocardial ischemia -- Research, Health
Published
2010

11. Impact of Ebola virus on Gorilla gorilla gorilla diversity

Author

Fontsere, Claudia, Frandsen, P., Hernandez-Rodriguez, J., Le Gouar, P., Ménard, Nelly, Navarro, A., Siegismund, H. R., Hvilsom, C., Hugues, D. A., Marques-Bonet, T., Station Biologique de Paimpont CNRS UMR 6653 (OSUR), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Institució Catalana de Recerca i Estudis Avançats (ICREA), Briand, Valerie, and Université de Rennes (UR)

Subjects
[SDE.BE] Environmental Sciences/Biodiversity and Ecology, [SDE.BE]Environmental Sciences/Biodiversity and Ecology, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2018

12. 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

13. 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

16. A TNFSF13B Functional Variant Is Not Involved in Systemic Sclerosis and Giant Cell Arteritis Susceptibility

Author

Gonzalez-Serna, D, Carmona, EG, Ortego-Centeno, N, Simeon, CP, Solans, R, Hernandez-Rodriguez, J, Tolosa, C, Castaneda, S, Narvaez, J, Martinez-Valle, F, European GCA Consortium, European Scleroderma Group, Witte, T, Neumann, T, Holle, J, Beretta, L, Boiardi, L, Emmi, G, Cimmino, MA, Vaglio, A, Herrick, AL, Denton, CP, Salvarani, C, Cid, MC, Morgan, AW, Fonseca, C, Gonzalez-Gay, MA, Martin, J, Marquez, A, Márquez, Ana [0000-0001-9913-7688], Martín, Javier [0000-0002-2202-0622], Ortego-Centeno, N. [0000-0003-2325-0937], Universidad de Cantabria, Universitat de Barcelona, Márquez, Ana, Martín, Javier, and Ortego-Centeno, N.

Subjects
Male, 0301 basic medicine, Genetics and Molecular Biology (all), B Cells, Genotyping Techniques, Lydia Becker Institute, Physiology, Cooperative research, Biopsy, Autoimmunity, Biochemistry, Temporal Arteritis, Cohort Studies, White Blood Cells, Mathematical and Statistical Techniques, 0302 clinical medicine, INDEL Mutation, immune system diseases, Animal Cells, Biochemistry, Genetics and Molecular Biology (all), Agricultural and Biological Sciences (all), Immune Physiology, B-Cell Activating Factor, Medicine and Health Sciences, Gene Regulatory Networks, Molecular genetics, skin and connective tissue diseases, Aged, 80 and over, Innate Immune System, Multidisciplinary, Statistics, Middle Aged, Metaanalysis, TNFSF13B, Systemic Sclerosis, Giant Cell Arteritis, Europe, Thematic network, Physical Sciences, Cytokines, Medicine, Female, Christian ministry, Cellular Types, Research Article, Adult, Immune Cells, Science, Cèl·lules B, Giant Cell Arteritis, Immunology, Library science, Research and Analysis Methods, Genetic Predisposition, Polymorphism, Single Nucleotide, Genètica molecular, Autoimmune Diseases, 03 medical and health sciences, Political science, ResearchInstitutes_Networks_Beacons/lydia_becker_institute_of_immunology_and_inflammation, Genetics, medicine, Humans, Genetic Predisposition to Disease, Statistical Methods, Antibody-Producing Cells, Aged, 030203 arthritis & rheumatology, B cells, Scleroderma, Systemic, Blood Cells, Biology and Life Sciences, Human Genetics, Cell Biology, Molecular Development, medicine.disease, Giant cell arteritis, 030104 developmental biology, Case-Control Studies, Immune System, Genetics of Disease, Clinical Immunology, Clinical Medicine, Mathematics, Developmental Biology
Abstract

BACKGROUND: The TNFSF13B (TNF superfamily member 13b) gene encodes BAFF, a cytokine with a crucial role in the differentiation and activation of B cells. An insertion-deletion variant (GCTGT→A) of this gene, leading to increased levels of BAFF, has been recently implicated in the genetic predisposition to several autoimmune diseases, including multiple sclerosis, systemic lupus erythematosus, and rheumatoid arthritis. Based on the elevated levels of this cytokine found in patients with giant cell arteritis (GCA) and systemic sclerosis (SSc), we aimed to assess whether this functional variant also represents a novel genetic risk factor for these two disorders. METHODS: A total of 1,728 biopsy-proven GCA patients from 4 European cohorts, 4,584 SSc patients from 3 European cohorts and 5,160 ethnically-matched healthy controls were included in the study. The single nucleotide polymorphism (SNP) rs374039502, which colocalizes with the genetic variant previously implicated in autoimmunity, was genotyped using a custom TaqMan assay. First, association analysis was conducted in each independent cohort using χ2 test in Plink (v1.9). Subsequently, different case/control sets were meta-analyzed by the inverse variance method. RESULTS: No statistically significant differences were found when allele distributions were compared between cases and controls for any of the analyzed cohorts. Similarly, combined analysis of the different sets evidenced a lack of association of the rs374039502 variant with GCA (P = 0.421; OR (95% CI) = 0.92 (0.75-1.13)) and SSc (P = 0.500; OR (95% CI) = 1.05 (0.91-1.22)). The stratified analysis considering the main clinical subphenotypes of these diseases yielded similar negative results. CONCLUSION: Our data suggest that the TNFSF13B functional variant does not contribute to the genetic network underlying GCA and SSc., Funding: This work was supported by the following grants: P12-BIO-1395 from Consejería de Innovación, Ciencia y Tecnología, Junta de Andalucía (Spain) (JM), and the Cooperative Research Thematic Network (RETICS) programme (RD16/0012/0013) (RIER) (JM), from Instituto de Salud Carlos III (ISCIII, Spanish Ministry of Economy, Industry and Competitiveness). AM is recipient of a Miguel Servet fellowship (CP17/00008) from ISCIII (Spanish Ministry of Economy, Industry and Competitiveness) (AM).

Published
2018
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18. 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

19. Clinical Cases: See that case at least once1174An unrecognized mechanism of functional tricuspid regurgitation revealed by transthoracic three-dimensional echocardiography1175Left ventricular pseudoaneurysm after radiofrequency ablation of premature ventricular contractions1176Succesfull management of buckling of echocardiographic transesophageal probe1177An extremely rare tumor of cardiovascular system1178Pneumopericardium: a rare complication of esophageal cancer1179Left atrial dissection after myocardial infarction1180Late appearance of a ventricular septal defect after transcatheter aortic valve replacement: a rare complication1181Doppler flow velocities pattern in a trombophiliac patient with an lvad thrombosis1182An unusual cause of aortic diastolic reflux in a failed single ventricle palliation

Author

Bidviene, J., primary, Zhukovskiy, N., primary, Peritore, A., primary, Rodrigues, I., primary, Tundidor Sanz, ME., primary, Guerreiro, RA., primary, Marini, C., primary, Cereda, A., primary, Dorobantu, DM., primary, Cavalli, G., additional, Cavaliere, A., additional, Genovese, D., additional, Romeo, G., additional, Aruta, P., additional, Cucchini, U., additional, Iliceto, S., additional, Badano, LP., additional, Muraru, D., additional, Okhotin, A., additional, Privorotskaya, V., additional, De Chiara, B., additional, Musca, F., additional, Spano', F., additional, Santambrogio, G., additional, Casadei, F., additional, Forti, E., additional, Mutignani, M., additional, Giannattasio, C., additional, Moreo, A., additional, Galrinho, A., additional, Branco, L., additional, Bravio, I., additional, Machado, D., additional, Monteiro, A., additional, Daniel, P., additional, Ferreira, L., additional, Carvalho, R., additional, Ferreira, R., additional, Tierra Rodriguez, AM., additional, Dios Diez, P., additional, Mayorga Bajo, A., additional, Fernandez Gomez, MJ., additional, Dominguez Calvo, JI., additional, Rogriguez Palomo, D., additional, Hernandez Rodriguez, J., additional, Congo, K., additional, Carvalho, J., additional, Pais, J., additional, Bras, D., additional, Picarra, B., additional, Caeiro, A., additional, Fragata, J., additional, Aguiar, J., additional, Stella, S., additional, Rosa, I., additional, Pavon, AG., additional, Ancona, F., additional, Margonato, A., additional, Colombo, A., additional, Latib, A., additional, Montorfano, M., additional, Agricola, E., additional, Ghiorghiu, IA., additional, Popescu, BA., additional, Coman, IM., additional, Ginghina, CD., additional, and Enache, R., additional

Published
2016
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20. Chimpanzee genomic diversity reveals ancient admixture with bonobos

Author

de Manuel, M., primary, Kuhlwilm, M., additional, Frandsen, P., additional, Sousa, V. C., additional, Desai, T., additional, Prado-Martinez, J., additional, Hernandez-Rodriguez, J., additional, Dupanloup, I., additional, Lao, O., additional, Hallast, P., additional, Schmidt, J. M., additional, Heredia-Genestar, J. M., additional, Benazzo, A., additional, Barbujani, G., additional, Peter, B. M., additional, Kuderna, L. F. K., additional, Casals, F., additional, Angedakin, S., additional, Arandjelovic, M., additional, Boesch, C., additional, Kuhl, H., additional, Vigilant, L., additional, Langergraber, K., additional, Novembre, J., additional, Gut, M., additional, Gut, I., additional, Navarro, A., additional, Carlsen, F., additional, Andres, A. M., additional, Siegismund, H. R., additional, Scally, A., additional, Excoffier, L., additional, Tyler-Smith, C., additional, Castellano, S., additional, Xue, Y., additional, Hvilsom, C., additional, and Marques-Bonet, T., additional

Published
2016
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21. Identification of the PTPN22 functional variant R620W as susceptibility genetic factor for giant cell arteritis

Author

Serrano, A., Marquez, A., Mackie, S.L., Carmona, F.D., Solans, R., Miranda-Filloy, J.A., Hernandez-Rodriguez, J., Cid, M.C., Castaneda, S., Morado, I.C., Narvaez, J., Blanco, R., Sopena, B., Garcia-Villanueva, M.J., Monfort, J., Ortego-Centeno, N., Unzurrunzaga, A., Mari-Alfonso, B., Sanchez-Martin, J., Miguel, E. de, Magro, C., Raya, E., Braun, N., Latus, J., Molberg, O., Lie, B.A., Moosig, F., Witte, T., Morgan, A.W., Gonzalez-Gay, M.A., Martin, J., UK GCA Consortium, and Spanish GCA Consortium

Subjects
Gene Polymorphism, Polymyalgia Rheumatica, Giant Cell Arteritis
Published
2013

22. Analysis of two autoimmunity genes, IRAK1 and MECP2, in giant cell arteritis

Author

Marquez, A., Solans, R., Hernandez-Rodriguez, J., Cid, M. C., Castaneda, S., Ramentol, M., Morado, I. C., Rodriguez-Rodriguez, L., Narvaez, J., Gomez-Vaquero, C., Miranda-Filloy, J. A., Martinez-Taboada, V. M., Rios, R., Sopena, B., Monfort, J., Garcia-Villanueva, M. J., Martinez-Zapico, A., Mari-Alfonso, B., Sanchez-Martin, J., Unzurrunzaga, A., Raya, E., Miguel, E., Hidalgo-Conde, A., Blanco, R., Gonzalez-Gay, M. A., Martin, J., and Spanish, G. C. A. Consortium

Subjects
Methyl-CpG-Binding Protein 2, Biopsy, Giant Cell Arteritis, Autoimmunity, Arteries, Polymorphism, Single Nucleotide, White People, Interleukin-1 Receptor-Associated Kinases, Gene Frequency, Spain, Humans, Female, Genetic Predisposition to Disease, Aged
Abstract

The Xq28 region, containing IRAK and MECP2, represent a common susceptibility locus for a high number of autoimmune diseases. Our aim in the present study was to evaluate the influence of the IRAK1 and MECP2 autoimmunity-associated genetic variants in the giant cell arteritis (GCA) susceptibility and its clinical subphenotypes.We analysed a total of 627 female biopsy-proven GCA patients and 1,520 female healthy controls of Spanish Caucasian origin. Two polymorphisms, rs1059702 and rs17345, located at IRAK1 and MECP2, respectively, were genotyped using TaqMan® allelic discrimination assays.No association with any of the analysed polymorphisms was evident when genotype and allele frequencies were compared between GCA patients and controls (rs1059702: allelic p-value=0.699, OR=0.96, CI 95% 0.80-1.17; rs17435: allelic p-value=0.994, OR=1.00, CI 95% 0.84-1.19). Likewise, the subphenotype analysis yield similar negative results.We have assessed for the first time the possible role of IRAK1 and MECP2 autoimmune disease-associated polymorphisms in GCA. Our data suggest that IRAK1 rs1059702 and MECP2 rs17435 genetic variants do not play a significant role in GCA susceptibility or severity.

Published
2013

23. The Functional PTPN22 Variant R620W Is Strongly Associated With Giant Cell Artetitis Predisposition

Author

Carmona, F.D., Mackie, S.L., Serrano, A., Marquez, A., Solans, R., Miranda-Filloy, J.A., Hernandez-Rodriguez, J., Cid, M.C., Castaneda, S., Morado, I.C., Narvaez, J., Blanco, R., Sopena, B., Garcia-Villanueva, M.J., Monfort, J., Ortego-Centeno, N., Unzurrunzaga, A., Mari-Alfonso, B., Sanchez-Martin, J., Miguel, E. de, Magro, C., Raya, E., Braun, N., Latus, J., Molberg, O., Lie, B.A., Moosig, F., Witte, T., Morgan, A.W., Gonzalez-Gay, M.A., and Martin, J.

Published
2013

24. Great ape genetic diversity and population history

Author

Prado-Martinez J, Sudmant PH, Kidd JM, Li H, Kelley JL, Lorente-Galdos B, Veeramah KR, Woerner AE, O'Connor TD, Santpere G, Cagan A, Theunert C, Casals F, Laayouni H, Munch K, Hobolth A, Halager AE, Malig M, Hernandez-Rodriguez J, Hernando-Herraez I, Prxfcfer K, Pybus M, Johnstone L, Lachmann M, Alkan C, Twigg D, Petit N, Baker C, Hormozdiari F, Fernandez-Callejo M, Dabad M, Wilson ML, Stevison L, Camprubxed C, Carvalho T, Ruiz-Herrera A, Vives L, Mele M, Abello T, Kondova I, Bontrop RE, Pusey A, Lankester F, and K

Published
2013

40. Multicentre study with a single oral dose of fluconazole (150 mg) for the treatment of vaginal candidiasis | ESTUDIO MULTICENTRICO DE UNA DOSIS ORAL UNICA DE FLUCONAZOL (150 MG) EN EL TRATAMIENTO DE LA CANDIDIASIS VAGINAL

Author

Bajo Arenas, J., Abad Martinez, L., Aldama Magnet, J., Aranguren Duo, G., Arbues Lacadena, J., Cerrolaza Asenjo, J., Miguel Sesmero, J. R., Esteban Altirriba, J., Gonzalez Gomez, J., Hernandez Rodriguez, J. L., Lanchares Perez, J. L., Martinez Sampedro, R., Vilar Checa, E., and Jordi Xercavins

41. Chimpanzee genomic diversity reveals ancient admixture with bonobos

Author

de Manuel M, Kuhlwilm M, Frandsen P, Vc, Sousa, Desai T, Prado-Martinez J, Hernandez-Rodriguez J, Dupanloup I, Lao O, Hallast P, Jm, Schmidt, Jm, Heredia-Genestar, Benazzo A, Barbujani G, Bm, Peter, Lukas Kuderna, Casals F, Angedakin S, Arandjelovic M, and Boesch C

44. 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
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45. Role of Colchicine Treatment in Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS): Real-Life Data from the AIDA Network

Author

Bruno Frediani, Laura Obici, Alessandra Renieri, Jurgen Sota, Valeria Caggiano, Francesco Licciardi, José Hernández-Rodríguez, Roberto Giacomelli, Piero Ruscitti, Antonio Vitale, Nicola Ricco, Lorenzo Dagna, Carlo Salvarani, Maria Cristina Maggio, Davide Montin, Giacomo Emmi, Alessandra Soriano, Marco Cattalini, Luca Cantarini, Ombretta Viapiana, Vittoria Lamacchia, Francesco Caso, Raffaele Manna, Antonella Insalaco, Vitale, Antonio, Sota, Jurgen, Obici, Laura, Ricco, Nicola, Maggio, Maria Cristina, Cattalini, Marco, Ruscitti, Piero, Caso, Francesco, Manna, Raffaele, Viapiana, Ombretta, Caggiano, Valeria, Emmi, Giacomo, Insalaco, Antonella, Montin, Davide, Licciardi, Francesco, Soriano, Alessandra, Dagna, Lorenzo, Salvarani, Carlo, Lamacchia, Vittoria, Hernández-Rodríguez, José, Giacomelli, Roberto, Frediani, Bruno, Renieri, Alessandra, Cantarini, Luca, Vitale, A., Sota, J., Obici, L., Ricco, N., Maggio, M. C., Cattalini, M., Ruscitti, P., Caso, F., Manna, R., Viapiana, O., Caggiano, V., Emmi, G., Insalaco, A., Montin, D., Licciardi, F., Soriano, A., Dagna, L., Salvarani, C., Lamacchia, V., Hernandez-Rodriguez, J., Giacomelli, R., Frediani, B., Renieri, A., and Cantarini, L.

Subjects
Male, 0301 basic medicine, Eye Diseases, TRAPS,Colchicine,AIDA Network, Gene mutation, Gastroenterology, Receptors, Tumor Necrosis Factor, chemistry.chemical_compound, Settore MED/38 - Pediatria Generale E Specialistica, 0302 clinical medicine, Receptors, Pathology, RB1-214, Colchicine, Age of Onset, Young adult, Child, Amyloidosis, Syndrome, Middle Aged, Colchicine, tumor necrosis factor, TRAPS, Inflamació, Penetrance, Phenotype, Child, Preschool, Female, Joint Diseases, Research Article, Adult, Risk, medicine.medical_specialty, Adolescent, Fever, Article Subject, Immunology, Exanthema, Humans, Mutation, Myalgia, Retrospective Studies, Young Adult, Lower risk, 03 medical and health sciences, Internal medicine, medicine, Preschool, Inflammation, 030203 arthritis & rheumatology, business.industry, TRAPS, Retrospective cohort study, Cell Biology, medicine.disease, 030104 developmental biology, chemistry, Age of onset, Tumor Necrosis Factor, business
Abstract

Objective. To analyze the potential role of colchicine monotherapy in patients with tumor necrosis factor receptor associated periodic syndrome (TRAPS) in terms of control of clinical and laboratory manifestations. Methods. Patients with TRAPS treated with colchicine monotherapy were retrospectively enrolled; demographic, clinical and therapeutic data were collected and statistically analysed after having clustered patients according to different times at disease onset, penetrance of mutations, dosage of colchicine, and different disease manifestations. Results. 24 patients (14 males; 15 with pediatric disease onset) treated with colchicine monotherapy were enrolled. Colchicine resulted in a complete response in 3 (12.5%) cases, partial response in 14 (58.3%) patients, and lack of response in 7 (29.2%) patients. There were not significant differences in colchicine response between pediatric and adult disease onset (p=0.42), between low- and high-penetrance mutations (p=0.62), and according to different dosages (p=0.66). No significant differences were identified in the frequency of specific disease manifestations between patients experiencing any response to colchicine and patients with lack of response. Conclusions. Colchicine monotherapy is useful in a low percentage of TRAPS patients; nevertheless, it could be attempted in patients with milder phenotypes and at a lower risk of developing reactive amyloidosis.

Published
2020
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46. Development and implementation of the AIDA international registry for patients with Still's disease

Author

Antonio Vitale, Francesca Della Casa, Giuseppe Lopalco, Rosa Maria Pereira, Piero Ruscitti, Roberto Giacomelli, Gaafar Ragab, Francesco La Torre, Elena Bartoloni, Emanuela Del Giudice, Claudia Lomater, Giacomo Emmi, Marcello Govoni, Maria Cristina Maggio, Armin Maier, Joanna Makowska, Benson Ogunjimi, Petros P. Sfikakis, Paolo Sfriso, Carla Gaggiano, Florenzo Iannone, Marília A. Dagostin, Ilenia Di Cola, Luca Navarini, Ayman Abdelmonem Ahmed Mahmoud, Fabio Cardinale, Ilenia Riccucci, Maria Pia Paroli, Elena Maria Marucco, Irene Mattioli, Jurgen Sota, Anna Abbruzzese, Isabele P. B. Antonelli, Paola Cipriani, Abdurrahman Tufan, Claudia Fabiani, Mustafa Mahmoud Ramadan, Marco Cattalini, Riza Can Kardas, Gian Domenico Sebastiani, Henrique A. Mayrink Giardini, José Hernández-Rodríguez, Violetta Mastrorilli, Ewa Więsik-Szewczyk, Micol Frassi, Valeria Caggiano, Salvatore Telesca, Heitor F. Giordano, Emmanuele Guadalupi, Teresa Giani, Alessandra Renieri, Sergio Colella, Giulia Cataldi, Martina Gentile, Alessandra Fabbiani, Ibrahim A. Al-Maghlouth, Bruno Frediani, Alberto Balistreri, Donato Rigante, Luca Cantarini, Autoinflammatory Diseases Alliance (AIDA) Network, Vitale A., Della Casa F., Lopalco G., Pereira R.M., Ruscitti P., Giacomelli R., Ragab G., La Torre F., Bartoloni E., Del Giudice E., Lomater C., Emmi G., Govoni M., Maggio M.C., Maier A., Makowska J., Ogunjimi B., Sfikakis P.P., Sfriso P., Gaggiano C., Iannone F., Dagostin M.A., Di Cola I., Navarini L., Ahmed Mahmoud A.A., Cardinale F., Riccucci I., Paroli M.P., Marucco E.M., Mattioli I., Sota J., Abbruzzese A., Antonelli I.P.B., Cipriani P., Tufan A., Fabiani C., Ramadan M.M., Cattalini M., Kardas R.C., Sebastiani G.D., Giardini H.A.M., Hernandez-Rodriguez J., Mastrorilli V., Wiesik-Szewczyk E., Frassi M., Caggiano V., Telesca S., Giordano H.F., Guadalupi E., Giani T., Renieri A., Colella S., Cataldi G., Gentile M., Fabbiani A., Al-Maghlouth I.A., Frediani B., Balistreri A., Rigante D., and Cantarini L.

Subjects
Registry, Settore MED/16 - REUMATOLOGIA, research, treatment, precision medicine, rare diseases, General Medicine, personalized medicine, autoinflammatory diseases, Settore MED/38 - Pediatria Generale E Specialistica, autoinflammatory diseases, personalized medicine, precision medicine, rare diseases, research treatment, Still's disease, Human medicine
Abstract

ObjectiveAim of this paper is to present the design, construction, and modalities of dissemination of the AutoInflammatory Disease Alliance (AIDA) International Registry for patients with systemic juvenile idiopathic arthritis (sJIA) and adult-onset Still's disease (AOSD), which are the pediatric and adult forms of the same autoinflammatory disorder.MethodsThis Registry is a clinical, physician-driven, population- and electronic-based instrument implemented for the retrospective and prospective collection of real-world data. The collection of data is based on the Research Electronic Data Capture (REDCap) tool and is intended to obtain evidence drawn from routine patients' management. The collection of standardized data is thought to bring knowledge about real-life clinical research and potentially communicate with other existing and future Registries dedicated to Still's disease. Moreover, it has been conceived to be flexible enough to easily change according to future scientific acquisitions.ResultsStarting from June 30th to February 7th, 2022, 110 Centers from 23 Countries in 4 continents have been involved. Fifty-four of these have already obtained the approval from their local Ethics Committees. Currently, the platform counts 290 users (111 Principal Investigators, 175 Site Investigators, 2 Lead Investigators, and 2 data managers). The Registry collects baseline and follow-up data using 4449 fields organized into 14 instruments, including patient's demographics, history, clinical manifestations and symptoms, trigger/risk factors, therapies and healthcare access.ConclusionsThis international Registry for patients with Still's disease will allow a robust clinical research through collection of standardized data, international consultation, dissemination of knowledge, and implementation of observational studies based on wide cohorts of patients followed-up for very long periods. Solid evidence drawn from “real-life” data represents the ultimate goal of this Registry, which has been implemented to significantly improve the overall management of patients with Still's disease. NCT 05200715 available at https://clinicaltrials.gov/.

Published
2022

47. Clinical Features at Onset and Genetic Characterization of Pediatric and Adult Patients with TNF-α Receptor—Associated Periodic Syndrome (TRAPS): A Series of 80 Cases from the AIDA Network

Author

Masen Abdel Jaber, Donato Rigante, Francesco La Torre, Ombretta Viapiana, Carlo Salvarani, Elena Verrecchia, Maria Cristina Maggio, Ludovico Luca Sicignano, Carla Gaggiano, Alessandra Renieri, Antonio Vitale, Piero Ruscitti, Salvatore Grosso, Jurgen Sota, Virginia Berlengiero, Roberto Giacomelli, Florenzo Iannone, Raffaele Manna, Lorenzo Dagna, Rolando Cimaz, Antonella Insalaco, Luca Cantarini, Giampaolo Merlini, Davide Montin, Viviana Gelardi, Maria Antonietta Mencarelli, José Hernández-Rodríguez, Giacomo Emmi, Alessandra Soriano, Francesco Caso, Bruno Frediani, Marco Cattalini, Luisa Ciarcia, Giuseppe Lopalco, Paola Parronchi, Laura Obici, Matteo Piga, Gaggiano C., Vitale A., Obici L., Merlini G., Soriano A., Viapiana O., Cattalini M., Maggio M.C., Lopalco G., Montin D., Jaber M.A., Dagna L., Manna R., Insalaco A., Piga M., La Torre F., Berlengiero V., Gelardi V., Ciarcia L., Emmi G., Ruscitti P., Caso F., Cimaz R., Hernandez-Rodriguez J., Parronchi P., Sicignano L.L., Verrecchia E., Iannone F., Sota J., Grosso S., Salvarani C., Frediani B., Giacomelli R., Mencarelli M.A., Renieri A., Rigante D., and Cantarini L.

Subjects
0301 basic medicine, myalgia, Male, Abdominal pain, Settore MED/16 - REUMATOLOGIA, TNFRSF1A, Gene mutation, Gastroenterology, 0302 clinical medicine, Pathology, Medicine, RB1-214, Pericarditis, Child, Prognosis, Penetrance, Inflamació, Familial Mediterranean Fever, AIDA network, Estudi de casos, Receptors, Tumor Necrosis Factor, Type I, Child, Preschool, Autoinflammation, Female, medicine.symptom, Research Article, Adult, medicine.medical_specialty, Article Subject, Adolescent, Genotype, tumor necrosis factor, Immunology, Context (language use), Asymptomatic, 03 medical and health sciences, Young Adult, Internal medicine, Animals, Humans, Retrospective Studies, 030203 arthritis & rheumatology, Inflammation, business.industry, tumor necrosis factor, TRAPS, AIDA network, Tumor Necrosis Factor-alpha, Infant, TRAPS, Cell Biology, Myalgia, Biological product, medicine.disease, 030104 developmental biology, Mutation, Case studies, business, Kidney disease
Abstract

This study explores demographic, clinical, and therapeutic features of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a cohort of 80 patients recruited from 19 Italian referral Centers. Patients’ data were collected retrospectively and then analyzed according to age groups (disease onset before or after 16 years) and genotype (high penetrance (HP) and low penetrance (LP) TNFRSF1A gene variants). Pediatric- and adult-onset were reported, respectively, in 44 and 36 patients; HP and LP variants were found, respectively, in 32 and 44 cases. A positive family history for recurrent fever was reported more frequently in the pediatric group than in the adult group (p<0.05). With reference to clinical features during attacks, pericarditis and myalgia were reported more frequently in the context of adult-onset disease than in the pediatric age (with p<0.01 and p<0.05, respectively), while abdominal pain was present in 84% of children and in 25% of adults (p<0.01). Abdominal pain was significantly associated also to the presence of HP mutations (p<0.01), while oral aphthosis was more frequently found in the LP variant group (p<0.05). Systemic amyloidosis occurred in 25% of subjects carrying HP variants. As concerns laboratory features, HP mutations were significantly associated to higher ESR values (p<0.01) and to the persistence of steadily elevated inflammatory markers during asymptomatic periods (p<0.05). The presence of mutations involving a cysteine residue, abdominal pain, and lymphadenopathy during flares significantly correlated with the risk of developing amyloidosis and renal impairment. Conversely, the administration of colchicine negatively correlated to the development of pathologic proteinuria (p<0.05). Both NSAIDs and colchicine were used as monotherapy more frequently in the LP group compared to the HP group (p<0.01). Biologic agents were prescribed to 49 (61%) patients; R92Q subjects were more frequently on NSAIDs monotherapy than other patients (p<0.01); nevertheless, they required biologic therapy in 53.1% of cases. At disease onset, the latest classification criteria for TRAPS were fulfilled by 64/80 (80%) patients (clinical plus genetic items) and 46/80 (57.5%) patients (clinical items only). No statistically significant differences were found in the sensitivity of the classification criteria according to age at onset and according to genotype (p<0.05). This study describes one of the widest cohorts of TRAPS patients in the literature, suggesting that the clinical expression of this syndrome is more influenced by the penetrance of the mutation rather than by the age at onset itself. Given the high phenotypic heterogeneity of the disease, a definite diagnosis should rely on both accurate working clinical assessment and complementary genotype.

Published
2020

48. Atypical noncontiguous TSC2/PKD1 gene deletions presenting as tuberous sclerosis/polycystic kidney disease contiguous gene syndrome.

Author

Ventayol-Guirado M, Torres L, Asensio-Landa V, Pérez-Granero Á, Madrid MI, Hernandez-Rodriguez J, Llull-Alberti MV, Lumbreras J, Escribà S, Pons M, Roldan J, Martínez-López I, Heine-Suñer D, and Santos-Simarro F

Subjects
Humans, Female, Phenotype, Adult, Polycystic Kidney Diseases genetics, Polycystic Kidney Diseases pathology, Polycystic Kidney Diseases diagnosis, Tuberous Sclerosis Complex 2 Protein genetics, Tuberous Sclerosis genetics, Tuberous Sclerosis diagnosis, Tuberous Sclerosis pathology, TRPP Cation Channels genetics, Gene Deletion
Abstract

Tuberous sclerosis complex (TSC) and autosomal dominant polycystic kidney disease (ADPKD) are genetically distinct disorders typically associated with pathogenic variants in TSC1 and TSC2 for the former and PKD1 and PKD2 for the latter. TSC2 and PKD1 lie adjacent to each other, and large deletions comprising both genes lead to TSC2/PKD1 contiguous gene deletion syndrome (CGS). In this study, we describe a young female patient exhibiting symptoms of TSC2/PKD1 CGS in which genetic analysis disclosed two noncontiguous partial gene deletions in TSC2 and PKD1 that putatively are responsible for the manifestations of the syndrome. Further analysis revealed that both deletions appear to be de novo on the maternal chromosome, presumably with a germline origin. Despite extensive analysis, no maternal chromosomal rearrangement triggering these pathogenic variants was detected. This case elucidates a unique pathogenesis for TSC2/PKD1 CGS, diverging from the common contiguous deletions typically observed, marking the first reported instance of TSC2/PKD1 CGS caused by independent, functionally significant partial gene deletions., (© 2024 Wiley Periodicals LLC.)

Published
2024
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49. Heart Rate Variability Biofeedback as a Treatment for Military PTSD: A Meta-Analysis.

Author

Kenemore J, Benham G, Charak R, and Hernandez Rodriguez J

Subjects
Humans, Veterans psychology, Veterans statistics & numerical data, Stress Disorders, Post-Traumatic therapy, Stress Disorders, Post-Traumatic psychology, Stress Disorders, Post-Traumatic physiopathology, Biofeedback, Psychology methods, Heart Rate physiology, Military Personnel psychology, Military Personnel statistics & numerical data
Abstract

Introduction: Emerging research has provided tentative support for the use of heart rate variability biofeedback (HRVB) as a treatment for several psychological disorders, with meta-analyses providing compelling evidence for HRVB as a promising treatment for anxiety, depression, and PTSD. Given the prevalence of PTSD in military veterans and the comparatively lower benefit and higher attrition rate of traditional psychological treatment for PTSD relative to civilian counterparts, it is important to examine complementary and alternative treatment approaches such as HRVB in this population. Although studies of HRVB for PTSD have been conducted with military veterans, they have involved relatively small sample sizes, limiting interpretation. To address this, the current article presents a comprehensive meta-analysis, consolidating existing literature to more accurately evaluate the efficacy of HRVB in reducing PTSD symptoms within military populations., Materials and Methods: This meta-analysis was conducted according to Preferred Reporting Items for Systematic Reviews and Meta-Analysis guidelines, and our protocol was registered with PROSPERO to increase review transparency. A literature search of HRVB interventions was conducted using PubMed, PsycINFO, Military Database, PTSDPubs, and EBSCO's Psychological and Behavioral Sciences Collection., Results: Five studies met eligibility criteria, providing a combined sample size of 95 military services members. For all studies, effect sizes were negative, indicating a reduction in PTSD symptoms. Effect sizes ranged from -1.614 to -0.414, resulting in an overall moderate to large mean effect for HRVB (Hedges's g = -0.557; 95% confidence interval = -0.818 to -0.296; P < .001). Additionally, cumulative attrition was 5.8%, significantly lower than commonly reported rates for evidence-based treatments (16%-36%)., Conclusions: The present study is the first meta-analysis to examine HRVB as a treatment for military service members with PTSD. Results indicate that HRVB may be a viable treatment approach to reduce PTSD symptomatology. Low attrition rates, ease of accessibility, and favorable participant outlook serve as additional benefits for the use of HRVB., (© The Association of Military Surgeons of the United States 2024. All rights reserved. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints. All other permissions can be obtained through our RightsLink service via the Permissions link on the article page on our site–for further information please contact journals.permissions@oup.com.)

Published
2024
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50. Moderators of the Link Between Social Preference and Persistent Peer Victimization for Elementary School Children.

Author

Steggerda JC, Kiefer JL, Vengurlekar IN, Hernandez Rodriguez J, Pastrana Rivera FA, Gregus Slade SJ, Brown M, Moore TF, and Cavell TA

Abstract

Objective: Current antibullying programs can reduce overall rates of victimization but appear to overlook processes that give rise to persistent peer victimization. Needed are studies that delineate the interplay between social contextual and individual difference variables that contribute to persistent peer victimization. We examined the extent to which two individual-difference variables - internalizing symptoms (IS) and anxiety sensitivity (AS) - moderated the link between children's average social preference score across the school year and their status as persistent victims., Method: Participants included 659 4 th -grade students (M age  = 9.31 years, SD = 0.50, 51.8% girls; 42.3% Latinx, 28.9% non-Hispanic White, 10.2% Pacific Islander, 7.7% Bi/Multiracial, 1.9% Black, 1.7% Asian, 1.7% Native American, and 3.4% unreported) from 10 public elementary schools in the U.S., Results: As expected, higher social preference scores predicted a decreased likelihood of being persistently victimized. Conversely, IS and AS were positively linked to persistent victim status. AS significantly moderated the link between social preference and persistent victim status such that for children with high AS, compared to those with AS scores at or below the mean, the negative association between social preference and persistent victim status was attenuated., Conclusions: Findings provide evidence that children who experience high levels of IS and AS are at risk for being persistently victimized by peers and that high AS could signal increased risk for persistent victimization even when children are generally liked by peers. We discuss the implications of these findings for efforts to develop focused interventions for chronically bullied children.

Published
2024
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