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464 results on '"Herreros, B."'

5. La albuminuria y la enfermedad polivascular mejoran la capacidad predictiva de los modelos multivariados después de un evento cardiovascular agudo. Cohorte AIRVAG

Author

Guijarro, Carlos, Belinchón, Juan Carlos, Aranda, Carlos, Herreros, Benjamín, González Anglada, Isabel, Téllez, Mar, Huelmos, Ana I., López-Bescós, Lorenzo, Sánchez, Carmen, Barriga, Francisco, Gutiérrez, Miguel, Puras, Enrique, Casas, María Luisa, Tolón, Rosa, Sáez-Jiménez, R., Esteban-Hernández, J., Herreros, B., Huelmos, A., and Guijarro, C.

Published
2022
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11. P230 Clinical characteristics, risk factors and management of patients with inflammatory bowel disease and hidradenitis suppurativa: a nationwide multicenter study of the GETECCU ENEIDA registry

Author

Madero Velázquez, L, primary, De Francisco, R, additional, Herreros, B, additional, Yagüe, C, additional, Bujanda, L, additional, Calvet, X, additional, Ponferrada, A, additional, Aguas, M, additional, Rodríguez-Moranta, F, additional, Marin- Jiménez, I, additional, Catala, L, additional, Gomollon, F, additional, Huguet, J, additional, Mesonero, F, additional, Monfort, D, additional, Sierra, M, additional, Igualada, L, additional, Ricart, E, additional, González-Vivó, M, additional, García, M J, additional, Hernandez- Camba, A, additional, Elorza, A, additional, Zabalza- San Martín, L, additional, Ramos, L, additional, Martín Arranz, M D, additional, Ruiz-Nuñez, I, additional, Martinez-Montiel, P, additional, Soto, P, additional, Roig, C, additional, Molina, M L, additional, Mañona, M, additional, Taxonera, C, additional, Barreiro- de Acosta, M, additional, Gisbert, J P, additional, Ramírez, P, additional, Lorente, R, additional, Zabana, Y, additional, Botella, B, additional, Domènech, E, additional, and Gutierrez-Casbas, A, additional

Published
2024
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12. P493 Do antiTNF or Ustekinumab trough levels correlate with joint extraintestinal manifestations activity in Inflammatory bowel disease patients?

Author

Madero Velázquez, L, primary, Zapater, P, additional, Mira, C, additional, Jovani, V, additional, Andrés, M, additional, Aguas, M, additional, Vicens, E, additional, Barreiro-de Acosta, M, additional, Pérez-Pampín, E, additional, Porto-Silva, M, additional, Zabana, Y, additional, Pujol, M, additional, Herreros, B, additional, Ojeda, A, additional, Noguera, J R, additional, Rainieri, L, additional, Bernal, L, additional, Belen, O, additional, Moreno, V, additional, Cameo, J, additional, Sempere, L, additional, Más-Serrano, P, additional, and Gutierrez Casbas, A, additional

Published
2024
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23. 16p11.2 Locus modulates response to satiety before the onset of obesity

Author

Maillard, A M, Hippolyte, L, Rodriguez-Herreros, B, Chawner, S J R A, Dremmel, D, Agüera, Z, Fagundo, A B, Pain, A, Martin-Brevet, S, Hilbert, A, Kurz, S, Etienne, R, Draganski, B, Jimenez-Murcia, S, Männik, K, Metspalu, A, Reigo, A, Isidor, B, Le Caignec, C, David, A, Mignot, C, Keren, B, van den Bree, M B M, Munsch, S, Fernandez-Aranda, F, Beckmann, J S, Reymond, A, and Jacquemont, S

Published
2016
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25. P511: RISK FACTORS AND INCIDENCE OF CARDIAC EVENTS IN A LARGE COHORT OF 525 ADULT PATIENTS WITH NEWLY DIAGNOSED NON-M3 ACUTE MYELOID LEUKEMIA

Author

Boluda, B., primary, Solana-Altabella, A., additional, Cano, I., additional, Martínez-Cuadrón, D., additional, Acuña-Cruz, E., additional, Torres-Miñana, L., additional, Rodríguez-Veiga, R., additional, Martínez-Campuzano, D., additional, García-Ruiz, R., additional, Lloret, P., additional, Asensi, P., additional, Serrano, A., additional, Osa-Sáez, A., additional, Agüero-Ramón-Llín, J., additional, Rodríguez-Serrano, M., additional, Buendía-Fuentes, F., additional, Megías-Vericat, J. E., additional, Martín-Herreros, B., additional, Barragán, E., additional, Sargas, C., additional, Salas, M., additional, Wooddell, M., additional, Dharmani, C., additional, Sanz, M. A., additional, De La Rubia, J., additional, and Montesinos, P., additional

Published
2022
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26. Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA working groups on CNVs

Author

Sønderby, I.E., Ching, CRK, Thomopoulos, S.I., van der Meer, D., Sun, D., Villalon-Reina, J.E., Agartz, I., Amunts, K., Arango, C., Armstrong, N.J., Ayesa-Arriola, R., Bakker, G., Bassett, A.S., Boomsma, D.I., Bülow, R., Butcher, N.J., Calhoun, V.D., Caspers, S., Chow, EWC, Cichon, S., Ciufolini, S., Craig, M.C., Crespo-Facorro, B., Cunningham, A.C., Dale, A.M., Dazzan, P., de Zubicaray, G.I., Djurovic, S., Doherty, J.L., Donohoe, G., Draganski, B., Durdle, C.A., Ehrlich, S., Emanuel, B.S., Espeseth, T., Fisher, S.E., Ge, T., Glahn, D.C., Grabe, H.J., Gur, R.E., Gutman, B.A., Haavik, J., Håberg, A.K., Hansen, L.A., Hashimoto, R., Hibar, D.P., Holmes, A.J., Hottenga, J.J., Hulshoff Pol, H.E., Jalbrzikowski, M., Knowles, EEM, Kushan, L., Linden, DEJ, Liu, J., Lundervold, A.J., Martin-Brevet, S., Martínez, K., Mather, K.A., Mathias, S.R., McDonald-McGinn, D.M., McRae, A.F., Medland, S.E., Moberget, T., Modenato, C., Monereo Sánchez, J., Moreau, C.A., Mühleisen, T.W., Paus, T., Pausova, Z., Prieto, C., Ragothaman, A., Reinbold, C.S., Reis Marques, T., Repetto, G.M., Reymond, A., Roalf, D.R., Rodriguez-Herreros, B., Rucker, J.J., Sachdev, P.S., Schmitt, J.E., Schofield, P.R., Silva, A.I., Stefansson, H., Stein, D.J., Tamnes, C.K., Tordesillas-Gutiérrez, D., Ulfarsson, M.O., Vajdi, A., van 't Ent, D., van den Bree, MBM, Vassos, E., Vázquez-Bourgon, J., Vila-Rodriguez, F., Walters, G.B., Wen, W., Westlye, L.T., Wittfeld, K., Zackai, E.H., Stefánsson, K., Jacquemont, S., Thompson, P.M., Bearden, C.E., Andreassen, O.A., ENIGMA-CNV Working Group, ENIGMA 22q11.2 Deletion Syndrome Working Group, Bernard, M., Blackburn, N.B., Bøen, R., de Geus, E., de Zwarte, SMC, Forti, M.D., Frei, O., Fukunaga, M., Hehir-Kwa, J.Y., Hillegers, MHJ, Hoffmann, P., Homuth, G., Jahanshad, N., Koops, S., Kumar, K., Kikuchi, M., Le Hellard, S., Leu, C., Murray, R.M., Naerland, T., Nyberg, L., Ophoff, R.A., Pike, G.B., Sando, S.B., Shin, J., Shumskaya, E., Sisodiya, S.M., Steen, V.M., Teumer, A., Uhlmann, A., Wright, M.J., Antshel, K.M., Campbell, L.E., Crossley, N.A., Crowley, T.B., Daly, E., Fiksinski, A.M., Forsyth, J.K., Fremont, W., Goodrich-Hunsaker, N.J., Gudbrandsen, M., Jonas, R.K., Kates, W.R., Lin, A., McCabe, K.L., Moss, H., Murphy, D.G., Murphy, K.C., Owen, M.J., Ruparel, K., Simon, T.J., van Amelsvoort, T., and Vorstman, JAS

Subjects
brain structural imaging, copy number variant, diffusion tensor imaging, evolution, genetics-first approach, neurodevelopmental disorders, psychiatric disorders
Abstract

The Enhancing NeuroImaging Genetics through Meta-Analysis copy number variant (ENIGMA-CNV) and 22q11.2 Deletion Syndrome Working Groups (22q-ENIGMA WGs) were created to gain insight into the involvement of genetic factors in human brain development and related cognitive, psychiatric and behavioral manifestations. To that end, the ENIGMA-CNV WG has collated CNV and magnetic resonance imaging (MRI) data from ~49,000 individuals across 38 global research sites, yielding one of the largest studies to date on the effects of CNVs on brain structures in the general population. The 22q-ENIGMA WG includes 12 international research centers that assessed over 533 individuals with a confirmed 22q11.2 deletion syndrome, 40 with 22q11.2 duplications, and 333 typically developing controls, creating the largest-ever 22q11.2 CNV neuroimaging data set. In this review, we outline the ENIGMA infrastructure and procedures for multi-site analysis of CNVs and MRI data. So far, ENIGMA has identified effects of the 22q11.2, 16p11.2 distal, 15q11.2, and 1q21.1 distal CNVs on subcortical and cortical brain structures. Each CNV is associated with differences in cognitive, neurodevelopmental and neuropsychiatric traits, with characteristic patterns of brain structural abnormalities. Evidence of gene-dosage effects on distinct brain regions also emerged, providing further insight into genotype-phenotype relationships. Taken together, these results offer a more comprehensive picture of molecular mechanisms involved in typical and atypical brain development. This "genotype-first" approach also contributes to our understanding of the etiopathogenesis of brain disorders. Finally, we outline future directions to better understand effects of CNVs on brain structure and behavior.

Published
2022

28. Caustic Ingestion: A Risk-Based Algorithm

Author

Tosca J, Sanchez A, Sanahuja A, Villagrasa R, Poyatos P, Mas P, Pascual I, Lluch P, Herreros B, Pena A, Sanchiz V, and Minguez M

Abstract

INTRODUCTION:Caustic ingestion management could be improved with a diagnostic approach based on risk factors. This study aimed to develop an algorithm derived from predictive factors of a poor clinical course, to evaluate its diagnostic accuracy and resource consumption, and to compare it with 2 other approaches, a radiological one based on computed tomography and a classical one based on symptoms and endoscopy. METHODS:All patients older than 15 years presenting with caustic ingestion in our tertiary care hospital between 1995 and 2021 were prospectively included. Adverse outcome was defined as intensive care unit admission, emergency surgery, or death. Ingestion characteristics, symptoms, and laboratory and endoscopic findings were analyzed to determine the most relevant risk factors. Diagnostic accuracy and the number of examinations required were estimated and compared with the other 2 algorithms applied to our series. RESULTS:The sample included 532 cases of caustic ingestion, 13.2% (95% confidence interval [CI]: 10.3-16.0) of which had adverse outcomes. Volume and type of caustic substance; presence of symptoms and pharyngolaryngeal involvement; and neutrophilia, acidosis, and endoscopic injury were combined to develop an algorithm that would provide the highest diagnostic odds ratio (167.2; 95% CI: 71.9-388.7). Following this approach, half of the patients (50.6%; 95% CI: 46.2-55.1) would not require any examination and, overall, the need for endoscopy (20.0%; 95% CI: 16.4-23.5) and computed tomography (16.3%; 95% CI: 13.0-19.5) would be lower than that for the other 2 algorithms. DISCUSSION:A risk-based algorithm could improve caustic ingestion management by maintaining high diagnostic accuracy while reducing diagnostic test requirements.

Published
2022

38. Effects of eight neuropsychiatric copy number variants on human brain structure

Author

Modenato, C., Kumar, K., Moreau, C., Martin-Brevet, S., Huguet, G., Schramm, C., Jean-Louis, M., Martin, C. -O., Younis, N., Tamer, P., Douard, E., Thebault-Dagher, F., Cote, V., Charlebois, A. -R., Deguire, F., Maillard, A. M., Rodriguez-Herreros, B., Pain, A., Richetin, S., Addor, M. -C., Andrieux, J., Arveiler, B., Baujat, G., Sloan-Bena, F., Belfiore, M., Bonneau, D., Bouquillon, S., Boute, O., Brusco, A., Busa, T., Caberg, J. -H., Campion, D., Colombert, V., Cordier, M. -P., David, A., Debray, F. -G., Delrue, M. -A., Doco-Fenzy, M., Dunkhase-Heinl, U., Edery, P., Fagerberg, C., Faivre, L., Forzano, F., Genevieve, D., Gerard, M., Giachino, D., Guichet, A., Guillin, O., Heron, D., Isidor, B., Jacquette, A., Jaillard, S., Journel, H., Keren, B., Lacombe, D., Lebon, S., Le Caignec, C., Lemaitre, M. -P., Lespinasse, J., Mathieu-Dramart, M., Mercier, S., Mignot, C., Missirian, C., Petit, F., Pilekaer Sorensen, K., Pinson, L., Plessis, G., Prieur, F., Raymond, A., Rooryck-Thambo, C., Rossi, M., Sanlaville, D., Schlott Kristiansen, B., Schluth-Bolard, C., Till, M., Van Haelst, M., Van Maldergem, L., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Anwar, A., Atwell, C., Bowe, A., Beaudet, A. L., Benedetti, M., Berg, J., Berman, J., Berry, L. N., Bibb, A. L., Blaskey, L., Brennan, J., Brewton, C. M., Buckner, R., Bukshpun, P., Burko, J., Cali, P., Cerban, B., Chang, Y., Cheong, M., Chow, V., Chu, Z., Chudnovskaya, D., Cornew, L., Dale, C., Dell, J., Dempsey, A. G., Deschamps, T., Earl, R., Edgar, J., Elgin, J., Olson, J. E., Evans, Y. L., Findlay, A., Fischbach, G. D., Fisk, C., Fregeau, B., Gaetz, B., Gaetz, L., Garza, S., Gerdts, J., Glenn, O., Gobuty, S. E., Golembski, R., Greenup, M., Heiken, K., Hines, K., Hinkley, L., Jackson, F. I., Jenkins, J., Jeremy, R. J., Johnson, K., Kanne, S. M., Kessler, S., Khan, S. Y., Ku, M., Kuschner, E., Laakman, A. L., Lam, P., Lasala, M. W., Lee, H., Laguerre, K., Levy, S., Cavanagh, A. L., Llorens, A. V., Campe, K. L., Luks, T. L., Marco, E. J., Martin, S., Martin, A. J., Marzano, G., Masson, C., Mcgovern, K. E., Keehn, R. M. N., Miller, D. T., Miller, F. K., Moss, T. J., Murray, R., Nagarajan, S. S., Nowell, K. P., Owen, J., Paal, A. M., Packer, A., Page, P. Z., Paul, B. M., Peters, A., Peterson, D., Poduri, A., Pojman, N. J., Porche, K., Proud, M. B., Qasmieh, S., Ramocki, M. B., Reilly, B., Roberts, T. P. L., Shaw, D., Sinha, T., Smith-Packard, B., Gallagher, A. S., Swarnakar, V., Thieu, T., Triantafallou, C., Vaughan, R., Wakahiro, M., Wallace, A., Ward, T., Wenegrat, J., Wolken, A., Melie-Garcia, L., Kushan, L., Silva, A. I., van den Bree, M. B. M., Linden, D. E. J., Owen, M. J., Hall, J., Lippe, S., Chakravarty, M., Bzdok, D., Bearden, C. E., Draganski, B., Jacquemont, S., Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), 16p11.2 European Consortium, Simons Searchlight Consortium, Psychiatrie & Neuropsychologie, RS: MHeNs - R2 - Mental Health, RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, School for Mental Health & Neuroscience, RS: MHeNs - R3 - Neuroscience, Addor, M.C., Andrieux, J., Arveiler, B., Baujat, G., Sloan-Béna, F., Belfiore, M., Bonneau, D., Bouquillon, S., Boute, O., Brusco, A., Busa, T., Caberg, J.H., Campion, D., Colombert, V., Cordier, M.P., David, A., Debray, F.G., Delrue, M.A., Doco-Fenzy, M., Dunkhase-Heinl, U., Edery, P., Fagerberg, C., Faivre, L., Forzano, F., Genevieve, D., Gérard, M., Giachino, D., Guichet, A., Guillin, O., Héron, D., Isidor, B., Jacquette, A., Jaillard, S., Journel, H., Keren, B., Lacombe, D., Lebon, S., Le Caignec, C., Lemaître, M.P., Lespinasse, J., Mathieu-Dramart, M., Mercier, S., Mignot, C., Missirian, C., Petit, F., Pilekær Sørensen, K., Pinson, L., Plessis, G., Prieur, F., Raymond, A., Rooryck-Thambo, C., Rossi, M., Sanlaville, D., Schlott Kristiansen, B., Schluth-Bolard, C., Till, M., Van Haelst, M., Van Maldergem, L., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Anwar, A., Atwell, C., Bowe, A., Beaudet, A.L., Benedetti, M., Berg, J., Berman, J., Berry, L.N., Bibb, A.L., Blaskey, L., Brennan, J., Brewton, C.M., Buckner, R., Bukshpun, P., Burko, J., Cali, P., Cerban, B., Chang, Y., Cheong, M., Chow, V., Chu, Z., Chudnovskaya, D., Cornew, L., Dale, C., Dell, J., Dempsey, A.G., Deschamps, T., Earl, R., Edgar, J., Elgin, J., Olson, J.E., Evans, Y.L., Findlay, A., Fischbach, G.D., Fisk, C., Fregeau, B., Gaetz, B., Gaetz, L., Garza, S., Gerdts, J., Glenn, O., Gobuty, S.E., Golembski, R., Greenup, M., Heiken, K., Hines, K., Hinkley, L., Jackson, F.I., Jenkins, J., Jeremy, R.J., Johnson, K., Kanne, S.M., Kessler, S., Khan, S.Y., Ku, M., Kuschner, E., Laakman, A.L., Lam, P., Lasala, M.W., Lee, H., LaGuerre, K., Levy, S., Cavanagh, A.L., Llorens, A.V., Campe, K.L., Luks, T.L., Marco, E.J., Martin, S., Martin, A.J., Marzano, G., Masson, C., McGovern, K.E., Keehn, R.M., Miller, D.T., Miller, F.K., Moss, T.J., Murray, R., Nagarajan, S.S., Nowell, K.P., Owen, J., Paal, A.M., Packer, A., Page, P.Z., Paul, B.M., Peters, A., Peterson, D., Poduri, A., Pojman, N.J., Porche, K., Proud, M.B., Qasmieh, S., Ramocki, M.B., Reilly, B., Roberts, TPL, Shaw, D., Sinha, T., Smith-Packard, B., Gallagher, A.S., Swarnakar, V., Thieu, T., Triantafallou, C., Vaughan, R., Wakahiro, M., Wallace, A., Ward, T., Wenegrat, J., and Wolken, A.

Subjects
0301 basic medicine, Simons Searchlight Consortium, Autism, 0302 clinical medicine, Gyrus, Gene duplication, 2.1 Biological and endogenous factors, Psychology, Copy-number variation, Aetiology, Genetics, Brain, Human brain, Magnetic Resonance Imaging, Psychiatry and Mental health, Mental Health, medicine.anatomical_structure, Schizophrenia, Neurological, Public Health and Health Services, RC321-571, DNA Copy Number Variations, Intellectual and Developmental Disabilities (IDD), Clinical Sciences, 16p11.2 European Consortium, Neurosciences. Biological psychiatry. Neuropsychiatry, Neuroimaging, Biology, Basic Behavioral and Social Science, Article, 03 medical and health sciences, Cellular and Molecular Neuroscience, Clinical Research, Behavioral and Social Science, mental disorders, medicine, Humans, 22Q11.2 DELETION SYNDROME, Clinical genetics, AUTISM, COMMON, Biological Psychiatry, Prevention, Human Genome, Brain morphometry, Neurosciences, medicine.disease, DUPLICATION, Brain Disorders, 030104 developmental biology, 030217 neurology & neurosurgery, Neuroscience
Abstract

Many copy number variants (CNVs) confer risk for the same range of neurodevelopmental symptoms and psychiatric conditions including autism and schizophrenia. Yet, to date neuroimaging studies have typically been carried out one mutation at a time, showing that CNVs have large effects on brain anatomy. Here, we aimed to characterize and quantify the distinct brain morphometry effects and latent dimensions across 8 neuropsychiatric CNVs. We analyzed T1-weighted MRI data from clinically and non-clinically ascertained CNV carriers (deletion/duplication) at the 1q21.1 (n = 39/28), 16p11.2 (n = 87/78), 22q11.2 (n = 75/30), and 15q11.2 (n = 72/76) loci as well as 1296 non-carriers (controls). Case-control contrasts of all examined genomic loci demonstrated effects on brain anatomy, with deletions and duplications showing mirror effects at the global and regional levels. Although CNVs mainly showed distinct brain patterns, principal component analysis (PCA) loaded subsets of CNVs on two latent brain dimensions, which explained 32 and 29% of the variance of the 8 Cohen’s d maps. The cingulate gyrus, insula, supplementary motor cortex, and cerebellum were identified by PCA and multi-view pattern learning as top regions contributing to latent dimension shared across subsets of CNVs. The large proportion of distinct CNV effects on brain morphology may explain the small neuroimaging effect sizes reported in polygenic psychiatric conditions. Nevertheless, latent gene brain morphology dimensions will help subgroup the rapidly expanding landscape of neuropsychiatric variants and dissect the heterogeneity of idiopathic conditions.

Published
2021
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39. Early changes in corticomotor excitability underlie proactive inhibitory control of error correction

Author

Vazquez-Anguiano Jl, Silvio Ionta, Carlo Miniussi, Julià L. Amengual, Rodriguez Herreros B, and Cunillera T

Subjects
Electrophysiology, Neural correlates of consciousness, Reactive inhibition, Mechanism (biology), Proactive Inhibition, Inhibitory control, Inhibitory postsynaptic potential, Psychology, Affect (psychology), Neuroscience
Abstract

Converging evidence indicates that response inhibition may arise from the interaction of effortful proactive and reflexive reactive mechanisms. However, the distinction between the neural basis sustaining proactive and reactive inhibitory processes is still unclear. To identify reliable neural markers of proactive inhibition, we examined the behavioral and electrophysiological correlates elicited by manipulating the degree of inhibitory control in a task that involved the detection and amendment of errors. Restraining or encouraging the correction of errors did not affect the time course of the behavioral and neural correlates associated to reactive inhibition. We rather found that a bilateral and sustained decrease of corticomotor excitability was required for an effective proactive inhibitory control, whereas selective strategies were associated with defective response suppression. Our results provide behavioral and electrophysiological conclusive evidence of a comprehensive proactive inhibitory mechanism, with a distinctive underlying neural basis, governing the commission and amendment of errors. Together, these findings hint at a decisive role for changes in corticomotor excitability in determining whether an action will be successfully suppressed.SIGNIFICANCE STATEMENTResponse inhibition is a fundamental brain function that must be flexible enough to incorporate volitional goal-directed demands, along with rapid, automatic and well consolidated behaviors. Previous studies reflect a lack of consensus regarding the neural correlates subserving these two –proactive and reactive– distinct modes of inhibitory control. We combined electrophysiological recordings with behavioral measures within a paradigm of detection and correction of errors under two degrees of inhibitory control to identify genuine neural markers of proactive inhibitory control. We found evidence supporting a sustained and global –not selective– reduction of corticomotor excitability subserving successful proactive inhibition of motor responses. Our findings favor a distinctive mechanism of comprehensive inhibitory control to amend errors under a high degree of response competition.

Published
2021
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41. Inflammatory bowel disease in immigrants to Spain: results of the EIIMIGRA study from GETECCU (ENEIDA registry)

Author

Casbas A, Zapater P, Ricart E, Gonzalez-Vivo M, Gordillo J, Olivares D, Vera-Mendoza I, Manosa M, Gisbert J, Aguas M, Sanchez-Rodriguez E, Bosca M, Laredo V, Camps B, Marin-Jimenez I, Zabana Y, Martin-Arranz M, Munoz R, Navarro-Llavat M, Sierra E, Madero L, Vela M, Perez-Calle J, Sainz E, Calvet X, Sicilia B, Morales V, Bermejo F, Fernandez-Salazar L, Van Domselaar M, De Castro L, Rodriguez C, Munoz-Villafranca C, Lorente R, Rivero M, Iglesias E, Herreros B, Barreiro-de-Acosta M, Domenech E, Frances R, and EIIMIGRA

Published
2021

44. Caustic ingestion: development and validation of a prognostic score

Author

Tosca J, Villagrasa R, Sanahuja A, Sanchez A, Trejo GA, Herreros B, Pascual I, Mas P, Peña A, and Minguez M

Abstract

BACKGROUND AND STUDY AIMS: Caustic ingestion is a potentially severe condition; early identification of poor outcome is essential for improve management, but prediction based only on endoscopy can overestimate its severity. The aim of the study was to develop and validate a prognostic score. PATIENTS AND METHODS: A prospective cohort study was designed to include all patients older than 15 years consecutively attended in our tertiary care hospital between 1995 and 2017. Adverse outcome was defined by any of the following conditions: intensive care unit admission, urgent surgery or death. The predictive value of clinical, analytical and endoscopic variables was assessed in a first cohort of cases (derivation cohort) and a prognostic score based on the resulting risk factors was developed by logistic regression; internal validation (bootstrapping) was performed and then external validation was checked in an independent sample of patients (validation cohort). RESULTS: 469 cases were included, 265 in the derivation cohort and 204 in the validation one. Ingestion of acid substances (OR 3.13, 95%CI:2.33-4.21), neutrophil count (OR 1.05, 95%CI:1.04-1.06), metabolic acidosis (bicarbonate value, OR 0.82, 95%CI:0.78-0.85) and endoscopic injury (OR 3.81, 95%CI:3.35-4.34) were independent risk factors of poor outcome. The prognostic score based on these variables provided better accuracy than endoscopy alone (p=0.038), with high sensitivity, specificity, positive, negative predictive values (93.3%, 92.7%, 72.7%, 98.5%, respectively) and area under the curve (0.976, 95%CI:0.973-0.976, p

Published
2021

45. Inflammatory bowel disease in immigrants to Spain: results of the EIIMIGRA study from GETECCU (ENEIDA registry)

Author

Gutierrez Casbas, A., Zapater, P., Ricart, E., Gonzalez-Vivo, M., Gordillo, J., Olivares, D., Vera-Mendoza, I., Manosa, M., Gisbert, J. P., Aguas, M., Sanchez-Rodriguez, E., Bosca, M., Laredo, V., Camps, B., Marin-Jimenez, I., Zabana, Y., Martin-Arranz, M. D., Munoz, R., Navarro-Llavat, M., Sierra, E., Madero, L., Vela, M., Perez-Calle, J., Sainz, E., Calvet, X., Sicilia, B., Morales, V., Bermejo, F., Luis Fernández-Salazar, Domselaar, M., Castro, L., Rodriguez, C., Munoz-Villafranca, C., Lorente, R., Rivero, M., Iglesias, E., Herreros, B., Barreiro-De-Acosta, M., Domenech, E., and Frances, R.

Published
2021

49. Effects of copy number variations on brain structure and risk for psychiatric illness: Large‐scale studies from the ENIGMA working groups on CNVs

Author

Sønderby, I.E., Ching, C.R.K., Thomopoulos, S.I., Meer, D., Sun, D., Villalon‐Reina, J.E., Agartz, I., Amunts, K., Arango, C., Armstrong, N.J., Ayesa‐Arriola, R., Bakker, G., Bassett, A.S., Boomsma, D.I., Bülow, R., Butcher, N.J., Calhoun, V.D., Caspers, S., Chow, E.W.C., Cichon, S., Ciufolini, S., Craig, M.C., Crespo‐Facorro, B., Cunningham, A.C., Dale, A.M., Dazzan, P., Zubicaray, G.I., Djurovic, S., Doherty, J.L., Donohoe, G., Draganski, B., Durdle, C.A., Ehrlich, S., Emanuel, B.S., Espeseth, T., Fisher, S.E., Ge, T., Glahn, D.C., Grabe, H.J., Gur, R.E., Gutman, B.A., Haavik, J., Håberg, A.K., Hansen, L.A., Hashimoto, R., Hibar, D.P., Holmes, A.J., Hottenga, J‐J, Hulshoff Pol, H.E., Jalbrzikowski, M., Knowles, E.E.M., Kushan, L., Linden, D.E.J., Liu, J., Lundervold, A.J., Martin‐Brevet, S., Martinez, K., Mather, K.A., Mathias, S.R., McDonald‐McGinn, D.M., McRae, A.F., Medland, S.E., Moberget, T., Modenato, C., Monereo Sánchez, J., Moreau, C.A., Mühleisen, T.W., Paus, T., Pausova, Z., Prieto, C., Ragothaman, A., Reinbold, C.S., Reis Marques, T., Repetto, G.M., Reymond, A., Roalf, D.R., Rodriguez‐Herreros, B., Rucker, J.J., Sachdev, P.S., Schmitt, J.E., Schofield, P.R., Silva, A.I., Stefánsson, H., Stein, D.J., Tamnes, C.K., Tordesillas‐Gutiérrez, D., Ulfarsson, M.O., Vajdi, A., Ent, D., Bree, M.B.M., Vassos, E., Vázquez‐Bourgon, J., Vila‐Rodriguez, F., Walters, G.B., Wen, W., Westlye, L.T., Wittfeld, K., Zackai, E.H., Stefánsson, K., Jacquemont, S., Thompson, P.M., Bearden, C.E., Andreassen, O.A., Sønderby, I.E., Ching, C.R.K., Thomopoulos, S.I., Meer, D., Sun, D., Villalon‐Reina, J.E., Agartz, I., Amunts, K., Arango, C., Armstrong, N.J., Ayesa‐Arriola, R., Bakker, G., Bassett, A.S., Boomsma, D.I., Bülow, R., Butcher, N.J., Calhoun, V.D., Caspers, S., Chow, E.W.C., Cichon, S., Ciufolini, S., Craig, M.C., Crespo‐Facorro, B., Cunningham, A.C., Dale, A.M., Dazzan, P., Zubicaray, G.I., Djurovic, S., Doherty, J.L., Donohoe, G., Draganski, B., Durdle, C.A., Ehrlich, S., Emanuel, B.S., Espeseth, T., Fisher, S.E., Ge, T., Glahn, D.C., Grabe, H.J., Gur, R.E., Gutman, B.A., Haavik, J., Håberg, A.K., Hansen, L.A., Hashimoto, R., Hibar, D.P., Holmes, A.J., Hottenga, J‐J, Hulshoff Pol, H.E., Jalbrzikowski, M., Knowles, E.E.M., Kushan, L., Linden, D.E.J., Liu, J., Lundervold, A.J., Martin‐Brevet, S., Martinez, K., Mather, K.A., Mathias, S.R., McDonald‐McGinn, D.M., McRae, A.F., Medland, S.E., Moberget, T., Modenato, C., Monereo Sánchez, J., Moreau, C.A., Mühleisen, T.W., Paus, T., Pausova, Z., Prieto, C., Ragothaman, A., Reinbold, C.S., Reis Marques, T., Repetto, G.M., Reymond, A., Roalf, D.R., Rodriguez‐Herreros, B., Rucker, J.J., Sachdev, P.S., Schmitt, J.E., Schofield, P.R., Silva, A.I., Stefánsson, H., Stein, D.J., Tamnes, C.K., Tordesillas‐Gutiérrez, D., Ulfarsson, M.O., Vajdi, A., Ent, D., Bree, M.B.M., Vassos, E., Vázquez‐Bourgon, J., Vila‐Rodriguez, F., Walters, G.B., Wen, W., Westlye, L.T., Wittfeld, K., Zackai, E.H., Stefánsson, K., Jacquemont, S., Thompson, P.M., Bearden, C.E., and Andreassen, O.A.

Abstract

The Enhancing NeuroImaging Genetics through Meta‐Analysis copy number variant (ENIGMA‐CNV) and 22q11.2 Deletion Syndrome Working Groups (22q‐ENIGMA WGs) were created to gain insight into the involvement of genetic factors in human brain development and related cognitive, psychiatric and behavioral manifestations. To that end, the ENIGMA‐CNV WG has collated CNV and magnetic resonance imaging (MRI) data from ~49,000 individuals across 38 global research sites, yielding one of the largest studies to date on the effects of CNVs on brain structures in the general population. The 22q‐ENIGMA WG includes 12 international research centers that assessed over 533 individuals with a confirmed 22q11.2 deletion syndrome, 40 with 22q11.2 duplications, and 333 typically developing controls, creating the largest‐ever 22q11.2 CNV neuroimaging data set. In this review, we outline the ENIGMA infrastructure and procedures for multi‐site analysis of CNVs and MRI data. So far, ENIGMA has identified effects of the 22q11.2, 16p11.2 distal, 15q11.2, and 1q21.1 distal CNVs on subcortical and cortical brain structures. Each CNV is associated with differences in cognitive, neurodevelopmental and neuropsychiatric traits, with characteristic patterns of brain structural abnormalities. Evidence of gene‐dosage effects on distinct brain regions also emerged, providing further insight into genotype–phenotype relationships. Taken together, these results offer a more comprehensive picture of molecular mechanisms involved in typical and atypical brain development. This “genotype‐first” approach also contributes to our understanding of the etiopathogenesis of brain disorders. Finally, we outline future directions to better understand effects of CNVs on brain structure and behavior.

Published
2021

50. P630 Inflammatory bowel disease in immigrants to Spain: results of the EIIMIGRA study from GETECCU (ENEIDA registry)

Author

Gutiérrez Casbas, A, primary, Zapater, P, additional, Ricart, E, additional, González-Vivó, M, additional, Gordillo, J, additional, Olivares, D, additional, Vera-Mendoza, I, additional, Mañosa, M, additional, Gisbert, J P, additional, Aguas, M, additional, Sánchez-Rodríguez, E, additional, Boscá, M, additional, Laredo, V, additional, Camps, B, additional, Marín-Jíménez, I, additional, Zabana, Y, additional, Martín-Arranz, M D, additional, Muñoz, R, additional, Navarro-Llavat, M, additional, Sierra, E, additional, Madero, L, additional, Vela, M, additional, Pérez-Calle, J, additional, Sainz, E, additional, Calvet, X, additional, Sicilia, B, additional, Morales, V, additional, Bermejo, F, additional, Fernández-Salazar, L, additional, Van Domselaar, M, additional, De Castro, L, additional, Rodríguez, C, additional, Muñoz-Villafranca, C, additional, Lorente, R, additional, Rivero, M, additional, Iglesias, E, additional, Herreros, B, additional, Barreiro-de-Acosta, M, additional, Domènech, E, additional, and Francés, R, additional

Published
2021
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