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2. The Flavor Composition of Supernova Neutrinos

Author

Capanema, Antonio, Porto, Yago, and Saez, Maria Manuela

Subjects
High Energy Physics - Phenomenology, Astrophysics - High Energy Astrophysical Phenomena, Astrophysics - Solar and Stellar Astrophysics
Abstract

We show that standard matter effects in the outer layers of core-collapse supernovae significantly constrain the flavor composition of the neutrino flux, even with the enormous uncertainties originating from self-induced flavor conversions in the supernova core. Assuming an arbitrary initial flavor composition emerging from the supernova core, we find that, for the normal mass ordering, the fraction of neutrinos with electron flavor reaching the Earth, denoted as $f_{\nu_e}$, is constrained to be less than $0.5$ for all energies throughout the emission phase, whereas, for inverted mass ordering, we anticipate neutrinos arriving in near flavor equipartition ($f_{\nu_e}\approx 1/3$). In case adiabaticity is violated in the region of standard matter effects (e. g. due to shock waves), the result is flavor equipartition for both mass orderings. These results could be tested by future observations and may provide valuable insights into the properties of neutrino fluxes emerging from the supernova core., Comment: 7 pages + references, 2 figures, improved version, appendix added

Published
2024

3. A multiscale sensorimotor model of experience-dependent behavior in a minimal organism

Author

Vidal-Saez, Maria Sol, Vilarroya, Oscar, and Garcia-Ojalvo, Jordi

Subjects
Quantitative Biology - Neurons and Cognition
Abstract

To survive in ever-changing environments, living organisms need to continuously combine the ongoing external inputs they receive, representing present conditions, with their dynamical internal state, which includes influences of past experiences. It is still unclear in general, however, (i) how this happens at the molecular and cellular levels, and (ii) how the corresponding molecular and cellular processes are integrated with the behavioral responses of the organism. Here we address these issues by modeling mathematically a particular behavioral paradigm in a minimal model organism, namely chemotaxis in the nematode C. elegans. Specifically, we use a long-standing collection of elegant experiments on salt chemotaxis in this animal, in which the migration direction varies depending on its previous experience. Our model integrates the molecular, cellular and organismal levels to reproduce the experimentally observed experience-dependent behavior. The model proposes specific molecular mechanisms for the encoding of current conditions and past experiences in key neurons associated with this response, predicting the behavior of various mutants associated with those molecular circuits., Comment: 28 pages, 11 figures

Published
2024

4. Biological computation through recurrence

Author

Vidal-Saez, Maria Sol, Vilarroya, Oscar, and Garcia-Ojalvo, Jordi

Subjects
Quantitative Biology - Neurons and Cognition
Abstract

One of the defining features of living systems is their adaptability to changing environmental conditions. This requires organisms to extract temporal and spatial features of their environment, and use that information to compute the appropriate response. In the last two decades, a growing body or work, mainly coming from the machine learning and computational neuroscience fields, has shown that such complex information processing can be performed by recurrent networks. In those networks, temporal computations emerge from the interaction between incoming stimuli and the internal dynamic state of the network. In this article we review our current understanding of how recurrent networks can be used by biological systems, from cells to brains, for complex information processing. Rather than focusing on sophisticated, artificial recurrent architectures such as long short-term memory (LSTM) networks, here we concentrate on simpler network structures and learning algorithms that can be expected to have been found by evolution. We also review studies showing evidence of naturally occurring recurrent networks in living organisms. Lastly, we discuss some relevant evolutionary aspects concerning the emergence of this natural computation paradigm., Comment: 19 pages, 3 figures

Published
2024

5. Correlations and Distinguishability Challenges in Supernova Models: Insights from Future Neutrino Detectors

Author

Saez, Maria Manuela, Rrapaj, Ermal, Harada, Akira, Nagataki, Shigehiro, and Qian, Yong-Zhong

Subjects
Astrophysics - High Energy Astrophysical Phenomena
Abstract

This paper explores core-collapse supernovae as crucial targets for neutrino telescopes, addressing uncertainties in their simulation results. We comprehensively analyze eighteen modern simulations and discriminate among supernova models using realistic detectors and interactions. A significant correlation between the total neutrino energy and cumulative counts, driven by massive lepton neutrinos and oscillations, is identified, particularly noticeable with the DUNE detector. Bayesian techniques indicate strong potential for model differentiation during a Galactic supernova event, with HK excelling in distinguishing models based on equation of state, progenitor mass, and mixing scheme., Comment: 31 pages, 12 Figures

Published
2024

7. Exploring Neutrino Mass Orderings through Supernova Neutrino Detection

Author

Saez, Maria Manuela

Subjects
Astrophysics - High Energy Astrophysical Phenomena, High Energy Physics - Phenomenology
Abstract

Core-collapse supernovae (SNe) are one of the most powerful cosmic sources of neutrinos, with energies of several MeV. The emission of neutrinos and antineutrinos of all flavors carries away the gravitational binding energy of the compact remnant and drives its evolution from the hot initial to the cold final states. Detecting these neutrinos from Earth and analyzing the emitted signals present a unique opportunity to explore the neutrino mass ordering problem. This research outlines the detection of neutrinos from SNe and their relevance in understanding the neutrino mass ordering. The focus is on developing a model-independent analysis strategy, achieved by comparing distinct detection channels in large underground detectors. The objective is to identify potential indicators of mass ordering within the neutrino sector. Additionally, a thorough statistical analysis is performed on the anticipated neutrino signals for both mass orderings. Despite uncertainties in supernova explosion parameters, an exploration of the parameter space reveals an extensive array of models with significant sensitivity to differentiate between mass orderings. The assessment of various observables and their combinations underscores the potential of forthcoming supernova observations in addressing the neutrino mass ordering problem., Comment: 21 pages, 10 Figures

Published
2023
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8. Cross-cultural validation of the Spanish version of the Kidney AlloTransplant Immunosuppressive Therapy Adherence Questionnaire (KATITA-25)

Author

de Medeiros Oliveira, Luana Cristina Lins, Pedreira-Robles, Guillermo, Pérez-Sáez, María José, Crespo, Marta, Bach-Pascual, Anna, Rubio-Paez, Sandra, Curado-Soto, Tania, Rovira-Algara, Alicia, Melilli, Edoardo, Jerez-Roig, Javier, Oriol-Vila, Ester, Quintana Reyes, Cristina, Diaz Jurado, Maribel, Martins, Rand Randall, Moreira, Francisca Sueli Monte, and Oliveira, Antonio Gouveia

Published
2024
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10. Genome-wide association study and polygenic risk scores of retinal thickness across the cognitive continuum: data from the NORFACE cohort

Author

Sáez, María Eugenia, García-Sánchez, Ainhoa, de Rojas, Itziar, Alarcón-Martín, Emilio, Martínez, Joan, Cano, Amanda, García-González, Pablo, Puerta, Raquel, Olivé, Clàudia, Capdevila, Maria, García-Gutiérrez, Fernando, Castilla-Martí, Miguel, Castilla-Martí, Luis, Espinosa, Ana, Alegret, Montserrat, Ricciardi, Mario, Pytel, Vanesa, Valero, Sergi, Tárraga, Lluís, Boada, Mercè, Ruiz, Agustín, and Marquié, Marta

Published
2024
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11. Clinical utility of an antibody‐free LC‐MS method to detect brain amyloid deposition in cognitively unimpaired individuals from the screening visit of the A4 Study

Author

Allué, José Antonio, Pascual‐Lucas, María, Sarasa, Leticia, Castillo, Sergio, Sarasa, Manuel, Sáez, María Eugenia, Abdel‐Latif, Sara, Rissman, Robert A, and Terencio, Jose

Subjects
Biomedical and Clinical Sciences, Neurosciences, Brain Disorders, Aging, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Prevention, Clinical Research, Bioengineering, Acquired Cognitive Impairment, Neurodegenerative, Alzheimer's Disease, Biomedical Imaging, Dementia, Neurological, Good Health and Well Being, Anti-Amyloid Treatment in Asymptomatic Alzheimer's (A4) Study, Alzheimer's disease, amyloid beta, A beta 42/A beta 40, blood biomarkers, clinical trials, mass spectrometry, pre-screening, Anti‐Amyloid Treatment in Asymptomatic Alzheimer's (A4) Study, Aβ42/Aβ40, pre‐screening, Genetics, Biological psychology
Abstract

IntroductionThis study explored the ability of plasma amyloid beta (Aβ)42/Aβ40 to identify brain amyloid deposition in cognitively unimpaired (CU) individuals.MethodsPlasma Aβ was quantified with an antibody-free high-performance liquid chromatography tandem mass spectrometry method from Araclon Biotech (ABtest-MS) in a subset of 731 CU individuals from the screening visit of the Anti-Amyloid Treatment in Asymptomatic Alzheimer's (A4) Study, to assess associations of Aβ42/Aβ40 with Aβ positron emission tomography (PET).ResultsA model including Aβ42/Aβ40, age, apolipoprotein E ε4, and recruitment site identified Aβ PET status with an area under the curve of 0.88 and an overall accuracy of 81%. A plasma-based pre-screening step could save up to 42% of the total number of Aβ PET scans.DiscussionABtest-MS accurately identified brain amyloid deposition in a population of CU individuals, supporting its implementation in AD secondary prevention trials to reduce recruitment time and costs. Although a certain degree of heterogeneity is inherent to large and multicentric trials, ABtest-MS could be more robust to pre-analytical bias compared to other immunoprecipitation mass spectrometry methods.HighlightsPlasma amyloid beta (Aβ)42/Aβ40 accurately identified brain Aβ deposition in cognitively unimpaired individuals from the Anti-Amyloid Treatment in Asymptomatic Alzheimer's (A4) Study.The inclusion of the recruitment site in the predictive models has a non-negligible effect.A plasma biomarker-based model could reduce recruitment costs in Alzheimer's disease secondary prevention trials.Antibody-free liquid chromatography mass spectrometry methods may be more robust to pre-analytical variability than other platforms.

Published
2023

12. Clinical and molecular spectrum of v-lesion

Author

Buxeda, Anna, Crespo, Marta, Chamoun, Betty, Gimeno, Javier, Torres, Irina B., Redondo-Pachón, Dolores, Riera, Marta, Burballa, Carla, Pascual, Julio, Mengel, Michael, Adam, Benjamin A., and Pérez-Sáez, María José

Published
2024
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17. Recurrence of membranous nephropathy after kidney transplantation: A multicenter retrospective cohort study

Author

Hullekes, Frank, Uffing, Audrey, Verhoeff, Rucháma, Seeger, Harald, von Moos, Seraina, Mansur, Juliana, Mastroianni-Kirsztajn, Gianna, Silva, Helio Tedesco, Buxeda, Anna, Pérez-Sáez, María José, Arias-Cabrales, Carlos, Collins, A. Bernard, Swett, Christie, Morená, Leela, Loucaidou, Marina, Kousios, Andreas, Malvezzi, Paolo, Bugnazet, Mathilde, Russo, Luis Sanchez, Muhsin, Saif A., Agrawal, Nikhil, Nissaisorakarn, Pitchaphon, Patel, Het, Al Jurdi, Ayman, Akalin, Enver, Neto, Elias David, Agena, Fabiana, Ventura, Carlucci, Manfro, Roberto C., Bauer, Andrea Carla, Mazzali, Marilda, de Sousa, Marcos Vinicius, La Manna, Gaetano, Bini, Claudia, Comai, Giorgia, Reindl-Schwaighofer, Roman, Berger, Stefan, Cravedi, Paolo, and Riella, Leonardo V.

Published
2024
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19. Blood gene expression biomarkers of response to anti-TNF drugs in pediatric inflammatory bowel diseases before initiation of treatment

Author

Salvador-Martín, Sara, Rubbini, Gianluca, Vellosillo, Perceval, Zapata-Cobo, Paula, Velasco, Marta, Palomino, Laura M., Clemente, Susana, Segarra, Oscar, Moreno-Álvarez, Ana, Fernández-Lorenzo, Ana, Pérez-Moneo, Begoña, Montraveta, Montserrat, Sánchez, Cesar, Tolín, Mar, Loverdos, Inés, Fobelo, María José, Navas-López, Victor Manuel, Magallares, Lorena, García-Romero, Ruth, Torres-Peral, Ricardo, Rodríguez, Alejandro, Bossacoma, Ferrán, Merino-Bohórquez, Vicente, Salcedo, Enrique, Álvarez, Rebeca, Dopazo, Ana, Sanjurjo-Sáez, María, and López-Fernández, Luis A.

Published
2024
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22. Impaired Reverse Cholesterol Transport is Associated with Changes in Fatty Acid Profile in Children and Adolescents with Abdominal Obesity

Author

Martin, Maximiliano, Condori, Anabel Impa, Davico, Belén, Gómez Rosso, Leonardo, Gaete, Laura, Tetzlaff, Walter, Chiappe, Ezequiel Lozano, Sáez, María Soledad, Lorenzon González, María Victoria, Godoy, María Fernanda, Osta, Viviana, Trifone, Liliana, Ballerini, María Gabriela, Cherñavsky, Alejandra, Boero, Laura, Tonietti, Miriam, Feliu, Susana, and Brites, Fernando

Published
2024
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23. Non-linear Morse-Bott functions on quaternionic Stiefel manifolds

Author

Macías-Virgós, Enrique, Pereira-Sáez, María José, and Tanré, Daniel

Subjects
Mathematics - Differential Geometry, 58E05 (Primary) 22E20, 22F30 (Secondary)
Abstract

In the Stiefel manifold $X_{n,k}$, we replace Frankel linear height function by a quadratic one. We prove this is still a Morse-Bott function, whose structure of critical levels presents a dichotomy according to the sign of $n-2k$. The critical submanifolds are no longer Grassmannians but total spaces of fibrations of basis a product of two Grassmannians. We explicitly integrate the gradient flow.

Published
2020

26. Author Correction: Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores

Author

de Rojas, Itziar, Moreno-Grau, Sonia, Tesi, Niccolo, Grenier-Boley, Benjamin, Andrade, Victor, Jansen, Iris E., Pedersen, Nancy L., Stringa, Najada, Zettergren, Anna, Hernández, Isabel, Montrreal, Laura, Antúnez, Carmen, Antonell, Anna, Tankard, Rick M., Bis, Joshua C., Sims, Rebecca, Bellenguez, Céline, Quintela, Inés, González-Perez, Antonio, Calero, Miguel, Franco-Macías, Emilio, Macías, Juan, Blesa, Rafael, Cervera-Carles, Laura, Menéndez-González, Manuel, Frank-García, Ana, Royo, Jose Luís, Moreno, Fermin, Huerto Vilas, Raquel, Baquero, Miquel, Diez-Fairen, Mónica, Lage, Carmen, García-Madrona, Sebastián, García-González, Pablo, Alarcón-Martín, Emilio, Valero, Sergi, Sotolongo-Grau, Oscar, Ullgren, Abbe, Naj, Adam C., Lemstra, Afina W., Benaque, Alba, Pérez-Cordón, Alba, Benussi, Alberto, Rábano, Alberto, Padovani, Alessandro, Squassina, Alessio, de Mendonça, Alexandre, Arias Pastor, Alfonso, Kok, Almar A. L., Meggy, Alun, Pastor, Ana Belén, Espinosa, Ana, Corma-Gómez, Anaïs, Martín Montes, Angel, Sanabria, Ángela, DeStefano, Anita L., Schneider, Anja, Haapasalo, Annakaisa, Kinhult Ståhlbom, Anne, Tybjærg-Hansen, Anne, Hartmann, Annette M., Spottke, Annika, Corbatón-Anchuelo, Arturo, Rongve, Arvid, Borroni, Barbara, Arosio, Beatrice, Nacmias, Benedetta, Nordestgaard, Børge G., Kunkle, Brian W., Charbonnier, Camille, Abdelnour, Carla, Masullo, Carlo, Martínez Rodríguez, Carmen, Muñoz-Fernandez, Carmen, Dufouil, Carole, Graff, Caroline, Ferreira, Catarina B., Chillotti, Caterina, Reynolds, Chandra A., Fenoglio, Chiara, Van Broeckhoven, Christine, Clark, Christopher, Pisanu, Claudia, Satizabal, Claudia L., Holmes, Clive, Buiza-Rueda, Dolores, Aarsland, Dag, Rujescu, Dan, Alcolea, Daniel, Galimberti, Daniela, Wallon, David, Seripa, Davide, Grünblatt, Edna, Dardiotis, Efthimios, Düzel, Emrah, Scarpini, Elio, Conti, Elisa, Rubino, Elisa, Gelpi, Ellen, Rodriguez-Rodriguez, Eloy, Duron, Emmanuelle, Boerwinkle, Eric, Ferri, Evelyn, Tagliavini, Fabrizio, Küçükali, Fahri, Pasquier, Florence, Sanchez-Garcia, Florentino, Mangialasche, Francesca, Jessen, Frank, Nicolas, Gaël, Selbæk, Geir, Ortega, Gemma, Chêne, Geneviève, Hadjigeorgiou, Georgios, Rossi, Giacomina, Spalletta, Gianfranco, Giaccone, Giorgio, Grande, Giulia, Binetti, Giuliano, Papenberg, Goran, Hampel, Harald, Bailly, Henri, Zetterberg, Henrik, Soininen, Hilkka, Karlsson, Ida K., Alvarez, Ignacio, Appollonio, Ildebrando, Giegling, Ina, Skoog, Ingmar, Saltvedt, Ingvild, Rainero, Innocenzo, Rosas Allende, Irene, Hort, Jakub, Diehl-Schmid, Janine, Van Dongen, Jasper, Vidal, Jean-Sebastien, Lehtisalo, Jenni, Wiltfang, Jens, Thomassen, Jesper Qvist, Kornhuber, Johannes, Haines, Jonathan L., Vogelgsang, Jonathan, Pineda, Juan A., Fortea, Juan, Popp, Julius, Deckert, Jürgen, Buerger, Katharina, Morgan, Kevin, Fließbach, Klaus, Sleegers, Kristel, Molina-Porcel, Laura, Kilander, Lena, Weinhold, Leonie, Farrer, Lindsay A., Wang, Li-San, Kleineidam, Luca, Farotti, Lucia, Parnetti, Lucilla, Tremolizzo, Lucio, Hausner, Lucrezia, Benussi, Luisa, Froelich, Lutz, Ikram, M. Arfan, Deniz-Naranjo, M. Candida, Tsolaki, Magda, Rosende-Roca, Maitée, Löwenmark, Malin, Hulsman, Marc, Spallazzi, Marco, Pericak-Vance, Margaret A., Esiri, Margaret, Bernal Sánchez-Arjona, María, Dalmasso, Maria Carolina, Martínez-Larrad, María Teresa, Arcaro, Marina, Nöthen, Markus M., Fernández-Fuertes, Marta, Dichgans, Martin, Ingelsson, Martin, Herrmann, Martin J., Scherer, Martin, Vyhnalek, Martin, Kosmidis, Mary H., Yannakoulia, Mary, Schmid, Matthias, Ewers, Michael, Heneka, Michael T., Wagner, Michael, Scamosci, Michela, Kivipelto, Miia, Hiltunen, Mikko, Zulaica, Miren, Alegret, Montserrat, Fornage, Myriam, Roberto, Natalia, van Schoor, Natasja M., Seidu, Nazib M., Banaj, Nerisa, Armstrong, Nicola J., Scarmeas, Nikolaos, Scherbaum, Norbert, Goldhardt, Oliver, Hanon, Oliver, Peters, Oliver, Skrobot, Olivia Anna, Quenez, Olivier, Lerch, Ondrej, Bossù, Paola, Caffarra, Paolo, Dionigi Rossi, Paolo, Sakka, Paraskevi, Mecocci, Patrizia, Hoffmann, Per, Holmans, Peter A., Fischer, Peter, Riederer, Peter, Yang, Qiong, Marshall, Rachel, Kalaria, Rajesh N., Mayeux, Richard, Vandenberghe, Rik, Cecchetti, Roberta, Ghidoni, Roberta, Frikke-Schmidt, Ruth, Sorbi, Sandro, Hägg, Sara, Engelborghs, Sebastiaan, Helisalmi, Seppo, Botne Sando, Sigrid, Kern, Silke, Archetti, Silvana, Boschi, Silvia, Fostinelli, Silvia, Gil, Silvia, Mendoza, Silvia, Mead, Simon, Ciccone, Simona, Djurovic, Srdjan, Heilmann-Heimbach, Stefanie, Riedel-Heller, Steffi, Kuulasmaa, Teemu, del Ser, Teodoro, Lebouvier, Thibaud, Polak, Thomas, Ngandu, Tiia, Grimmer, Timo, Bessi, Valentina, Escott-Price, Valentina, Giedraitis, Vilmantas, Deramecourt, Vincent, Maier, Wolfgang, Jian, Xueqiu, Pijnenburg, Yolande A. L., Kehoe, Patrick Gavin, Garcia-Ribas, Guillermo, Sánchez-Juan, Pascual, Pastor, Pau, Pérez-Tur, Jordi, Piñol-Ripoll, Gerard, Lopez de Munain, Adolfo, García-Alberca, Jose María, Bullido, María J., Álvarez, Victoria, Lleó, Alberto, Real, Luis M., Mir, Pablo, Medina, Miguel, Scheltens, Philip, Holstege, Henne, Marquié, Marta, Sáez, María Eugenia, Carracedo, Ángel, Amouyel, Philippe, Schellenberg, Gerard D., Williams, Julie, Seshadri, Sudha, van Duijn, Cornelia M., Mather, Karen A., Sánchez-Valle, Raquel, Serrano-Ríos, Manuel, Orellana, Adelina, Tárraga, Lluís, Blennow, Kaj, Huisman, Martijn, Andreassen, Ole A., Posthuma, Danielle, Clarimón, Jordi, Boada, Mercè, van der Flier, Wiesje M., Ramirez, Alfredo, Lambert, Jean-Charles, van der Lee, Sven J., and Ruiz, Agustín

Published
2023
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27. WWOX gene is associated with HDL cholesterol and triglyceride levels

Author

Serrano-Ríos Manuel, Real Luis M, Gayán Javier, Martínez-Larrad María T, González-Pérez Antonio, Sáez María E, and Ruiz Agustín

Subjects
Internal medicine, RC31-1245, Genetics, QH426-470
Abstract

Abstract Background Altered lipid profile, and in particular low HDL and high triglyceride (TG) plasma levels, are within the major determinants of cardiovascular diseases. The identification of quantitative trait loci (QTL) affecting these lipid levels is a relevant issue for predictive purposes. The WWOX gene has been recently associated with HDL levels. This gene is located at chromosome 16q23, a region previously linked to familial combined hyperlipidemia (FCHL) and HDL. Our objective is to perform a genetic association analysis at the WWOX gene region with HDL, TG and TG/HDL ratio. Methods A quantitative association analysis performed in 801 individuals selected from the Spanish general population. Results For HDL levels, two regions of intron 8 display clustering of positive signals (p < 0.05) but none of them was associated in the haplotypic analysis (0.07 ≤ p ≤ 0.165). For TG levels not only intron 8 but also a 27 kb region spanning from the promoter region to intron 4 are associated in this study. For the TG/HDL genetic association analysis, positive signals are coincident with those of the isolated traits. Interestingly, haplotypic analysis at the 5' region showed that variation in this region modified both HDL and TG levels, especially the latter (p = 0.003). Conclusions Our results suggest that WWOX is a QTL for both TG and HDL.

Published
2010
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28. Genetic Structure of the Spanish Population

Author

Gutiérrez Marta, Ochoa María, Molero Eva, Ochoa Carolina, Carrasco José M, Velasco Juan, Moreno-Rey Concha, Royo Jose, Morón Francisco J, Ramírez-Lorca Reposo, Salinas Ana, Rivero M Carmen, Zabena Carina, Martínez-Larrad María, Sáez María, González-Pérez Antonio, Galan José J, Gayán Javier, Reina Mercedes, Pascual Rocío, Romo-Astorga Alejandro, Susillo-González Juan, Vázquez Enrique, Real Luis M, Ruiz Agustín, and Serrano-Ríos Manuel

Subjects
Biotechnology, TP248.13-248.65, Genetics, QH426-470
Abstract

Abstract Background Genetic admixture is a common caveat for genetic association analysis. Therefore, it is important to characterize the genetic structure of the population under study to control for this kind of potential bias. Results In this study we have sampled over 800 unrelated individuals from the population of Spain, and have genotyped them with a genome-wide coverage. We have carried out linkage disequilibrium, haplotype, population structure and copy-number variation (CNV) analyses, and have compared these estimates of the Spanish population with existing data from similar efforts. Conclusions In general, the Spanish population is similar to the Western and Northern Europeans, but has a more diverse haplotypic structure. Moreover, the Spanish population is also largely homogeneous within itself, although patterns of micro-structure may be able to predict locations of origin from distant regions. Finally, we also present the first characterization of a CNV map of the Spanish population. These results and original data are made available to the scientific community.

Published
2010
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31. Interaction between Calpain 5, Peroxisome proliferator-activated receptor-gamma and Peroxisome proliferator-activated receptor-delta genes: a polygenic approach to obesity

Author

Ruiz Agustín, Serrano-Hernando Javier, González-Pérez Antonio, Martínez-Larrad María T, Manzano Luis, Morón Francisco J, Grilo Antonio, Sáez María E, Ramírez-Lorca Reposo, and Serrano-Ríos Manuel

Subjects
Diseases of the circulatory (Cardiovascular) system, RC666-701
Abstract

Abstract Context Obesity is a multifactorial disorder, that is, a disease determined by the combined effect of genes and environment. In this context, polygenic approaches are needed. Objective To investigate the possibility of the existence of a crosstalk between the CALPAIN 10 homologue CALPAIN 5 and nuclear receptors of the peroxisome proliferator-activated receptors family. Design Cross-sectional, genetic association study and gene-gene interaction analysis. Subjects The study sample comprise 1953 individuals, 725 obese (defined as body mass index ≥ 30) and 1228 non obese subjects. Results In the monogenic analysis, only the peroxisome proliferator-activated receptor delta (PPARD) gene was associated with obesity (OR = 1.43 [1.04–1.97], p = 0.027). In addition, we have found a significant interaction between CAPN5 and PPARD genes (p = 0.038) that reduces the risk for obesity in a 55%. Conclusion Our results suggest that CAPN5 and PPARD gene products may also interact in vivo.

Published
2008
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32. A method for detecting epistasis in genome-wide studies using case-control multi-locus association analysis

Author

Galan Jose, Quintas Antonio, Royo Jose, Sáez María, Bermudo Fernando, González-Pérez Antonio, Gayán Javier, Morón Francisco, Ramirez-Lorca Reposo, Real Luis, and Ruiz Agustín

Subjects
Biotechnology, TP248.13-248.65, Genetics, QH426-470
Abstract

Abstract Background The difficulty in elucidating the genetic basis of complex diseases roots in the many factors that can affect the development of a disease. Some of these genetic effects may interact in complex ways, proving undetectable by current single-locus methodology. Results We have developed an analysis tool called Hypothesis Free Clinical Cloning (HFCC) to search for genome-wide epistasis in a case-control design. HFCC combines a relatively fast computing algorithm for genome-wide epistasis detection, with the flexibility to test a variety of different epistatic models in multi-locus combinations. HFCC has good power to detect multi-locus interactions simulated under a variety of genetic models and noise conditions. Most importantly, HFCC can accomplish exhaustive genome-wide epistasis search with large datasets as demonstrated with a 400,000 SNP set typed on a cohort of Parkinson's disease patients and controls. Conclusion With the current availability of genetic studies with large numbers of individuals and genetic markers, HFCC can have a great impact in the identification of epistatic effects that escape the standard single-locus association analyses.

Published
2008
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33. Non-HLA Antibodies and Epitope Mismatches in Kidney Transplant Recipients With Histological Antibody-Mediated Rejection

Author

Crespo, Marta, Llinàs-Mallol, Laura, Redondo-Pachón, Dolores, Butler, Carrie, Gimeno, Javier, Pérez-Sáez, María José, Burballa, Carla, Buxeda, Anna, Arias-Cabrales, Carlos, Folgueiras, Montserrat, Sanz-Ureña, Sara, Valenzuela, Nicole M, Reed, Elaine F, and Pascual, Julio

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Immunology, Prevention, Organ Transplantation, Transplantation, Clinical Research, Renal and urogenital, Adult, Antibody Specificity, Epitopes, Female, Graft Rejection, HLA Antigens, Humans, Isoantibodies, Kidney Transplantation, Male, Middle Aged, kidney transplantation, antibody-mediated rejection, HLA antibodies, non-HLA antibodies, HLA epitope mismatch, AT(1)R antibodies, AT1R antibodies, Medical Microbiology, Biochemistry and cell biology, Genetics
Abstract

BackgroundCorrelation between antibody-mediated rejection (ABMR) and circulating HLA donor-specific antibodies (HLA-DSA) is strong but imperfect in kidney transplant (KT) recipients, raising the possibility of undetected HLA-DSA or non-HLA antibodies contributing to ABMR. Detailed evaluation of the degree of HLA matching together with the identification of non-HLA antibodies in KT may help to decipher the antibody involved.MethodsWe retrospectively assessed patients with transplant biopsies scored following Banff'15 classification. Pre- and post-transplant serum samples were checked for HLA and non-HLA antibodies [MICA-Ab, angiotensin-II type-1-receptor (AT1R)-Ab, endothelin-1 type-A-receptor (ETAR)-Ab and crossmatches with primary aortic endothelial cells (EC-XM)]. We also analyzed HLA epitope mismatches (HLA-EM) between donors and recipients to explore their role in ABMR histology (ABMRh) with and without HLA-DSA.ResultsOne-hundred eighteen patients with normal histology (n = 19), ABMRh (n = 52) or IFTA (n = 47) were studied. ABMRh patients were HLA-DSApos (n = 38, 73%) or HLA-DSAneg (n = 14, 27%). Pre-transplant HLA-DSA and AT1R-Ab were more frequent in ABMRh compared with IFTA and normal histology cases (p = 0.006 and 0.003), without differences in other non-HLA antibodies. Only three ABMRhDSAneg cases showed non-HLA antibodies. ABMRhDSAneg and ABMRhDSApos cases showed similar biopsy changes and graft-survival. Both total class II and DRB1 HLA-EM were associated with ABMRhDSApos but not with ABMRhDSAneg. Multivariate analysis showed that pre-transplant HLA-DSA (OR: 3.69 [1.31-10.37], p = 0.013) and AT1R-Ab (OR: 5.47 [1.78-16.76], p = 0.003) were independent predictors of ABMRhDSApos.ConclusionsIn conclusion, pre-transplant AT1R-Ab is frequently found in ABMRhDSApos patients. However, AT1R-Ab, MICA-Ab, ETAR-Ab or EC-XM+ are rarely found among ABMRhDSAneg patients. Pre-transplant AT1R-Ab may act synergistically with preformed or de novo HLA-DSA to produce ABMRhDSApos but not ABMRhDSAneg. HLA epitope mismatch associates with ABMRhDSApos compared with ABMRhDSAneg, suggesting factors other than HLA are responsible for the damage.

Published
2021

34. Calpain-5 gene variants are associated with diastolic blood pressure and cholesterol levels

Author

Morón Francisco J, González Alejandro, Martinez-Calatrava María J, Zabena Carina, González-Sánchez José L, Ramírez-Lorca Reposo, Martínez-Larrad María T, Sáez María E, Ruiz Agustín, and Serrano-Ríos Manuel

Subjects
Internal medicine, RC31-1245, Genetics, QH426-470
Abstract

Abstract Background Genes implicated in common complex disorders such as obesity, type 2 diabetes mellitus (T2DM) or cardiovascular diseases are not disease specific, since clinically related disorders also share genetic components. Cysteine protease Calpain 10 (CAPN10) has been associated with T2DM, hypertension, hypercholesterolemia, increased body mass index (BMI) and polycystic ovary syndrome (PCOS), a reproductive disorder of women in which isunlin resistance seems to play a pathogenic role. The calpain 5 gene (CAPN5) encodes a protein homologue of CAPN10. CAPN5 has been previously associated with PCOS by our group. In this new study, we have analysed the association of four CAPN5 gene variants(rs948976A>G, rs4945140G>A, rs2233546C>T and rs2233549G>A) with several cardiovascular risk factors related to metabolic syndrome in general population. Methods Anthropometric measurements, blood pressure, insulin, glucose and lipid profiles were determined in 606 individuals randomly chosen from a cross-sectional population-based epidemiological survey in the province of Segovia in Central Spain (Castille), recruited to investigate the prevalence of anthropometric and physiological parameters related to obesity and other components of the metabolic syndrome. Genotypes at the four polymorphic loci in CAPN5 gene were detected by polymerase chain reaction (PCR). Results Genotype association analysis was significant for BMI (p ≤ 0.041), diastolic blood pressure (p = 0.015) and HDL-cholesterol levels (p = 0.025). Different CAPN5 haplotypes were also associated with diastolic blood pressure (DBP) (0.0005 ≤ p ≤ 0.006) and total cholesterol levels (0.001 ≤ p ≤ 0.029). In addition, the AACA haplotype, over-represented in obese individuals, is also more frequent in individuals with metabolic syndrome defined by ATPIII criteria (p = 0.029). Conclusion As its homologue CAPN10, CAPN5 seems to influence traits related to increased risk for cardiovascular diseases. Our results also may suggest CAPN5 as a candidate gene for metabolic syndrome.

Published
2007
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35. Polymorphisms indicating risk of inflammatory bowel disease or antigenicity to anti-TNF drugs as biomarkers of response in children

Author

Zapata-Cobo, Paula, Salvador-Martín, Sara, Velasco, Marta, Palomino, Laura M., Clemente, Susana, Segarra, Oscar, Moreno-Álvarez, Ana, Fernández-Lorenzo, Ana, Pérez-Moneo, Begoña, Montraveta, Montserrat, Sánchez, Cesar, Tolín, Mar, Loverdos, Inés, Fobelo, María Jesús, Navas-López, Victor Manuel, Magallares, Lorena, García-Romero, Ruth, Sánchez-Hernández, José Germán, Rodríguez, Alejandro, Bossacoma, Ferrán, Balboa, María Jesús, Salcedo, Enrique, Sanjurjo-Sáez, María, and López-Fernández, Luis A.

Published
2023
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36. A metagenome-wide association study of HIV disease progression in HIV controllers

Author

Real, Luis Miguel, Sáez, María E., Corma-Gómez, Anais, Gonzalez-Pérez, Antonio, Thorball, Christian, Ruiz, Rocío, Jimenez-Leon, María Reyes, Gonzalez-Serna, Alejandro, Gasca-Capote, Carmen, Bravo, María José, Royo, José Luis, Perez-Gomez, Alberto, Camacho-Sojo, María Inés, Gallego, Isabel, Vitalle, Joana, Bachiller, Sara, Gutierrez-Valencia, Alicia, Vidal, Francisco, Fellay, Jacques, Lichterfeld, Mathias, and Ruiz-Mateos, Ezequiel

Published
2023
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37. A critical view on the current use of daptomycin in Spain: The daptomise study

Author

González, Carmen Guadalupe Rodríguez, Vega, Esther Chamorro de, Martínez, Sofía De la Villa, Minero, Maricela Valerio, Urbón, José María Gutiérrez, Manzorro, Álvaro Giménez, Martínez, Edurne Fernández de Gamarra, Sacristán, Sara Cobo, Santiago, Emilio Bouza, Alonso, Ana Herranz, Paredes, Patricia Muñoz García de, and Sáez, María Sanjurjo

Published
2023
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38. COVID‐19 and kidney transplantation: Results from the TANGO International Transplant Consortium

Author

Cravedi, Paolo, Mothi, Suraj S, Azzi, Yorg, Haverly, Meredith, Farouk, Samira S, Pérez‐Sáez, María J, Redondo‐Pachón, Maria D, Murphy, Barbara, Florman, Sander, Cyrino, Laura G, Grafals, Monica, Venkataraman, Sandheep, Cheng, Xingxing S, Wang, Aileen X, Zaza, Gianluigi, Ranghino, Andrea, Furian, Lucrezia, Manrique, Joaquin, Maggiore, Umberto, Gandolfini, Ilaria, Agrawal, Nikhil, Patel, Het, Akalin, Enver, and Riella, Leonardo V

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Organ Transplantation, Kidney Disease, Transplantation, Renal and urogenital, Good Health and Well Being, Aged, COVID-19, Comorbidity, Europe, Female, Follow-Up Studies, Graft Rejection, Humans, Immunocompromised Host, Immunosuppression Therapy, Immunosuppressive Agents, Kidney Transplantation, Male, Middle Aged, North America, Pandemics, Retrospective Studies, SARS-CoV-2, Transplant Recipients, clinical research/practice, immunosuppressant, infection and infectious agents - viral, kidney transplantation/nephrology, Medical and Health Sciences, Surgery, Clinical sciences, Immunology
Abstract

Kidney transplant recipients may be at a high risk of developing critical coronavirus disease 2019 (COVID-19) illness due to chronic immunosuppression and comorbidities. We identified hospitalized adult kidney transplant recipients at 12 transplant centers in the United States, Italy, and Spain who tested positive for COVID-19. Clinical presentation, laboratory values, immunosuppression, and treatment strategies were reviewed, and predictors of poor clinical outcomes were determined through multivariable analyses. Among 9845 kidney transplant recipients across centers, 144 were hospitalized due to COVID-19 during the 9-week study period. Of the 144 patients, 66% were male with a mean age of 60 (±12) years, and 40% were Hispanic and 25% were African American. Prevalent comorbidities included hypertension (95%), diabetes (52%), obesity (49%), and heart (28%) and lung (19%) disease. Therapeutic management included antimetabolite withdrawal (68%), calcineurin inhibitor withdrawal (23%), hydroxychloroquine (71%), antibiotics (74%), tocilizumab (13%), and antivirals (14%). During a median follow-up period of 52 days (IQR: 16-66 days), acute kidney injury occurred in 52% cases, with respiratory failure requiring intubation in 29%, and the mortality rate was 32%. The 46 patients who died were older, had lower lymphocyte counts and estimated glomerular filtration rate levels, and had higher serum lactate dehydrogenase, procalcitonin, and interleukin-6 levels. In sum, hospitalized kidney transplant recipients with COVID-19 have higher rates of acute kidney injury and mortality.

Published
2020

41. Microvascular inflammation in the absence of human leukocyte antigen-donor-specific antibody and C4d: An orphan category in Banff classification with cytotoxic T and natural killer cell infiltration

Author

Buxeda, Anna, Llinàs-Mallol, Laura, Gimeno, Javier, Redondo-Pachón, Dolores, Arias-Cabrales, Carlos, Burballa, Carla, Puche, Adrián, López-Botet, Miguel, Yélamos, José, Vilches, Carlos, Naesens, Maarten, Pérez-Sáez, María José, Pascual, Julio, and Crespo, Marta

Published
2023
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46. Classification of the relative positions between an ellipsoid and an elliptic paraboloid

Author

Brozos-Vázquez, Miguel, Pereira-Sáez, María José, Souto-Salorio, María José, and Tarrío-Tobar, Ana D.

Subjects
Computer Science - Computational Geometry, Mathematics - Algebraic Geometry, 15A18, 65D18
Abstract

We classify all the relative positions between an ellipsoid and an elliptic paraboloid when the ellipsoid is small in comparison with the paraboloid ({\it small} meaning that the ellipsoid cannot be tangent to the paraboloid at two points simultaneously). This provides an easy way to detect contact between the two surfaces by a direct analysis of the coefficients of a fourth degree polynomial.

Published
2018

47. Recommendations for living donor kidney transplantation

Author

Frutos, Miguel Ángel, Crespo, Marta, Valentín, María de la Oliva, Alonso-Melgar, Ángel, Alonso, Juana, Fernández, Constantino, García-Erauzkin, Gorka, González, Esther, González–Rinne, Ana M., Guirado, Lluis, Gutiérrez-Dalmau, Alex, Huguet, Jorge, Moral, José Luis López del, Musquera, Mireia, Paredes, David, Redondo, Dolores, Revuelta, Ignacio, Hofstadt, Carlos J Van-der, Alcaraz, Antonio, Alonso-Hernández, Ángel, Alonso, Manuel, Bernabeu, Purificación, Bernal, Gabriel, Breda, Alberto, Cabello, Mercedes, Caro-Oleas, José Luis, Cid, Joan, Diekmann, Fritz, Espinosa, Laura, Facundo, Carme, García, Marta, Gil-Vernet, Salvador, Lozano, Miquel, Mahillo, Beatriz, Martínez, María José, Miranda, Blanca, Oppenheimer, Federico, Palou, Eduard, Pérez-Saez, María José, Peri, Lluis, Rodríguez, Oscar, Santiago, Carlos, Tabernero, Guadalupe, Hernández, Domingo, Domínguez-Gil, Beatriz, and Pascual, Julio

Published
2022
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48. Multicentre study of magnet ingestion in Spanish paediatric emergency departments

Author

Arbeloa Miranda, Amaia, Samson, Frederic, Andina Martínez, David, Ruiz Domínguez, Jose Antonio, Sáinz de la Maza, Victoria Trenchs, Azcúnaga Sanibañez, Beatriz, Cadenas Benítez, Maria Noelia, Díaz Simal, Laura, Lobato Salinas, Zulema, Gilabert Iriondo, Núria, López de Soria, Cristina Olivas, Landa Maya, Jose Julian, Pérez Sáez, Maria Amalia, Romero-Hombrebueno Domínguez, Nieves, and Casquero Cossio, Alejandro

Published
2022
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49. Estudio multicéntrico de ingesta de imanes en los servicios de urgencias pediátricos españoles

Author

Arbeloa Miranda, Amaia, Samson, Frederic, Andina Martínez, David, Ruiz Domínguez, Jose Antonio, Trenchs Sáinz de la Maza, Victoria, Azcúnaga Sanibañez, Beatriz, Cadenas Benítez, Maria Noelia, Díaz Simal, Laura, Lobato Salinas, Zulema, Gilabert Iriondo, Núria, López de Soria, Cristina Olivas, Landa Maya, Jose Julian, Pérez Sáez, Maria Amalia, Romero-Hombrebueno Domínguez, Nieves, and Casquero Cossio, Alejandro

Published
2022
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50. A phase II randomised trial of abiraterone acetate plus prednisone in combination with docetaxel or docetaxel plus prednisone after disease progression to abiraterone acetate plus prednisone in patients with metastatic castration-resistant prostate cancer: The ABIDO-SOGUG trial

Author

Climent, Miguel A., Font, Albert, Durán, Ignacio, Puente, Javier, José Méndez-Vidal, María, Sáez, María Isabel, Santander Lobera, Carmen, Ángel Arranz Arija, Jóse, González-del-Alba, Aranzazu, Sánchez-Hernandez, Alfredo, Juan Fita, Maria Jose, Esteban, Emilio, Alonso-Gordoa, Teresa, Mellado Gonzalez, Begoña, Maroto, Pablo, Lázaro-Quintela, Martín, Cassinello-Espinosa, Javier, Pérez-Valderrama, Begoña, Garcias, Carmen, and Castellano, Daniel

Published
2022
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