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1. Pharmacogenetics: Ethnicity, Treatment and Health in Latin American Populations

Author

Sosa-Macías, Martha, Fricke-Galindo, Ingrid, Fariñas, Humberto, Monterde, Lucero, Ruiz-Cruz, Eugenia Dolores, Molina-Guarneros, Juan, Tarazona-Santos, Eduardo, Rodrigues-Soares, Fernanda, Galaviz-Hernández, Carlos, Peñas-Lledó, Eva, Moya, Graciela, Lara-Riegos, Julio, Terán, Enrique, Hernández, Isabel, Ramírez-Roa, Ronald, Altamirano-Tinoco, Catalina, López-López, Marisol, García-Ortiz, José Elías, and LLerena, Adrián

Abstract

The Ibero-American Network of Pharmacogenetics and Pharmacogenomics (RIBEF) studies Latin American populations to benefit from the implementation of personalized medicine. Since 2006, it has studied ethnicity to apply pharmacogenetics knowledge in autochthonous populations of Latin America, considering ancestral medicine. The meeting ‘Pharmacogenetics: ethnicity, Treatment and Health in Latin American Populations’ was held in Mexico City, Mexico, and presented the relevance of RIBEF collaboration with Latin American researchers and the governments of Mexico, Spain and the Autonomous Community of Extremadura. The results of 17 years of uninterrupted work by RIBEF, the Declaration of Mérida/T’Hó and the call for the Dr José María Cantú Award for studies focused on the pharmacogenetics of native populations in Latin America were presented.

Published
2023
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2. New insights into the genetic etiology of Alzheimer’s disease and related dementias

Author

Bellenguez, Céline, Küçükali, Fahri, Jansen, Iris E., Kleineidam, Luca, Moreno-Grau, Sonia, Amin, Najaf, Naj, Adam C., Campos-Martin, Rafael, Grenier-Boley, Benjamin, Andrade, Victor, Holmans, Peter A., Boland, Anne, Damotte, Vincent, van der Lee, Sven J., Costa, Marcos R., Kuulasmaa, Teemu, Yang, Qiong, de Rojas, Itziar, Bis, Joshua C., Yaqub, Amber, Prokic, Ivana, Chapuis, Julien, Ahmad, Shahzad, Giedraitis, Vilmantas, Aarsland, Dag, Garcia-Gonzalez, Pablo, Abdelnour, Carla, Alarcón-Martín, Emilio, Alcolea, Daniel, Alegret, Montserrat, Alvarez, Ignacio, Álvarez, Victoria, Armstrong, Nicola J., Tsolaki, Anthoula, Antúnez, Carmen, Appollonio, Ildebrando, Arcaro, Marina, Archetti, Silvana, Pastor, Alfonso Arias, Arosio, Beatrice, Athanasiu, Lavinia, Bailly, Henri, Banaj, Nerisa, Baquero, Miquel, Barral, Sandra, Beiser, Alexa, Pastor, Ana Belén, Below, Jennifer E., Benchek, Penelope, Benussi, Luisa, Berr, Claudine, Besse, Céline, Bessi, Valentina, Binetti, Giuliano, Bizarro, Alessandra, Blesa, Rafael, Boada, Mercè, Boerwinkle, Eric, Borroni, Barbara, Boschi, Silvia, Bossù, Paola, Bråthen, Geir, Bressler, Jan, Bresner, Catherine, Brodaty, Henry, Brookes, Keeley J., Brusco, Luis Ignacio, Buiza-Rueda, Dolores, Bûrger, Katharina, Burholt, Vanessa, Bush, William S., Calero, Miguel, Cantwell, Laura B., Chene, Geneviève, Chung, Jaeyoon, Cuccaro, Michael L., Carracedo, Ángel, Cecchetti, Roberta, Cervera-Carles, Laura, Charbonnier, Camille, Chen, Hung-Hsin, Chillotti, Caterina, Ciccone, Simona, Claassen, Jurgen A. H. R., Clark, Christopher, Conti, Elisa, Corma-Gómez, Anaïs, Costantini, Emanuele, Custodero, Carlo, Daian, Delphine, Dalmasso, Maria Carolina, Daniele, Antonio, Dardiotis, Efthimios, Dartigues, Jean-François, de Deyn, Peter Paul, de Paiva Lopes, Katia, de Witte, Lot D., Debette, Stéphanie, Deckert, Jürgen, del Ser, Teodoro, Denning, Nicola, DeStefano, Anita, Dichgans, Martin, Diehl-Schmid, Janine, Diez-Fairen, Mónica, Rossi, Paolo Dionigi, Djurovic, Srdjan, Duron, Emmanuelle, Düzel, Emrah, Dufouil, Carole, Eiriksdottir, Gudny, Engelborghs, Sebastiaan, Escott-Price, Valentina, Espinosa, Ana, Ewers, Michael, Faber, Kelley M., Fabrizio, Tagliavini, Nielsen, Sune Fallgaard, Fardo, David W., Farotti, Lucia, Fenoglio, Chiara, Fernández-Fuertes, Marta, Ferrari, Raffaele, Ferreira, Catarina B., Ferri, Evelyn, Fin, Bertrand, Fischer, Peter, Fladby, Tormod, Fließbach, Klaus, Fongang, Bernard, Fornage, Myriam, Fortea, Juan, Foroud, Tatiana M., Fostinelli, Silvia, Fox, Nick C., Franco-Macías, Emlio, Bullido, María J., Frank-García, Ana, Froelich, Lutz, Fulton-Howard, Brian, Galimberti, Daniela, García-Alberca, Jose Maria, García-González, Pablo, Garcia-Madrona, Sebastian, Garcia-Ribas, Guillermo, Ghidoni, Roberta, Giegling, Ina, Giorgio, Giaccone, Goate, Alison M., Goldhardt, Oliver, Gomez-Fonseca, Duber, González-Pérez, Antonio, Graff, Caroline, Grande, Giulia, Green, Emma, Grimmer, Timo, Grünblatt, Edna, Grunin, Michelle, Gudnason, Vilmundur, Guetta-Baranes, Tamar, Haapasalo, Annakaisa, Hadjigeorgiou, Georgios, Haines, Jonathan L., Hamilton-Nelson, Kara L., Hampel, Harald, Hanon, Olivier, Hardy, John, Hartmann, Annette M., Hausner, Lucrezia, Harwood, Janet, Heilmann-Heimbach, Stefanie, Helisalmi, Seppo, Heneka, Michael T., Hernández, Isabel, Herrmann, Martin J., Hoffmann, Per, Holmes, Clive, Holstege, Henne, Vilas, Raquel Huerto, Hulsman, Marc, Humphrey, Jack, Biessels, Geert Jan, Jian, Xueqiu, Johansson, Charlotte, Jun, Gyungah R., Kastumata, Yuriko, Kauwe, John, Kehoe, Patrick G., Kilander, Lena, Ståhlbom, Anne Kinhult, Kivipelto, Miia, Koivisto, Anne, Kornhuber, Johannes, Kosmidis, Mary H., Kukull, Walter A., Kuksa, Pavel P., Kunkle, Brian W., Kuzma, Amanda B., Lage, Carmen, Laukka, Erika J., Launer, Lenore, Lauria, Alessandra, Lee, Chien-Yueh, Lehtisalo, Jenni, Lerch, Ondrej, Lleó, Alberto, Longstreth, William, Lopez, Oscar, de Munain, Adolfo Lopez, Love, Seth, Löwemark, Malin, Luckcuck, Lauren, Lunetta, Kathryn L., Ma, Yiyi, Macías, Juan, MacLeod, Catherine A., Maier, Wolfgang, Mangialasche, Francesca, Spallazzi, Marco, Marquié, Marta, Marshall, Rachel, Martin, Eden R., Montes, Angel Martín, Rodríguez, Carmen Martínez, Masullo, Carlo, Mayeux, Richard, Mead, Simon, Mecocci, Patrizia, Medina, Miguel, Meggy, Alun, Mehrabian, Shima, Mendoza, Silvia, Menéndez-González, Manuel, Mir, Pablo, Moebus, Susanne, Mol, Merel, Molina-Porcel, Laura, Montrreal, Laura, Morelli, Laura, Moreno, Fermin, Morgan, Kevin, Mosley, Thomas, Nöthen, Markus M., Muchnik, Carolina, Mukherjee, Shubhabrata, Nacmias, Benedetta, Ngandu, Tiia, Nicolas, Gael, Nordestgaard, Børge G., Olaso, Robert, Orellana, Adelina, Orsini, Michela, Ortega, Gemma, Padovani, Alessandro, Paolo, Caffarra, Papenberg, Goran, Parnetti, Lucilla, Pasquier, Florence, Pastor, Pau, Peloso, Gina, Pérez-Cordón, Alba, Pérez-Tur, Jordi, Pericard, Pierre, Peters, Oliver, Pijnenburg, Yolande A. L., Pineda, Juan A., Piñol-Ripoll, Gerard, Pisanu, Claudia, Polak, Thomas, Popp, Julius, Posthuma, Danielle, Priller, Josef, Puerta, Raquel, Quenez, Olivier, Quintela, Inés, Thomassen, Jesper Qvist, Rábano, Alberto, Rainero, Innocenzo, Rajabli, Farid, Ramakers, Inez, Real, Luis M., Reinders, Marcel J. T., Reitz, Christiane, Reyes-Dumeyer, Dolly, Ridge, Perry, Riedel-Heller, Steffi, Riederer, Peter, Roberto, Natalia, Rodriguez-Rodriguez, Eloy, Rongve, Arvid, Allende, Irene Rosas, Rosende-Roca, Maitée, Royo, Jose Luis, Rubino, Elisa, Rujescu, Dan, Sáez, María Eugenia, Sakka, Paraskevi, Saltvedt, Ingvild, Sanabria, Ángela, Sánchez-Arjona, María Bernal, Sanchez-Garcia, Florentino, Juan, Pascual Sánchez, Sánchez-Valle, Raquel, Sando, Sigrid B., Sarnowski, Chloé, Satizabal, Claudia L., Scamosci, Michela, Scarmeas, Nikolaos, Scarpini, Elio, Scheltens, Philip, Scherbaum, Norbert, Scherer, Martin, Schmid, Matthias, Schneider, Anja, Schott, Jonathan M., Selbæk, Geir, Seripa, Davide, Serrano, Manuel, Sha, Jin, Shadrin, Alexey A., Skrobot, Olivia, Slifer, Susan, Snijders, Gijsje J. L., Soininen, Hilkka, Solfrizzi, Vincenzo, Solomon, Alina, Song, Yeunjoo, Sorbi, Sandro, Sotolongo-Grau, Oscar, Spalletta, Gianfranco, Spottke, Annika, Squassina, Alessio, Stordal, Eystein, Tartan, Juan Pablo, Tárraga, Lluís, Tesí, Niccolo, Thalamuthu, Anbupalam, Thomas, Tegos, Tosto, Giuseppe, Traykov, Latchezar, Tremolizzo, Lucio, Tybjærg-Hansen, Anne, Uitterlinden, Andre, Ullgren, Abbe, Ulstein, Ingun, Valero, Sergi, Valladares, Otto, Broeckhoven, Christine Van, Vance, Jeffery, Vardarajan, Badri N., van der Lugt, Aad, Dongen, Jasper Van, van Rooij, Jeroen, van Swieten, John, Vandenberghe, Rik, Verhey, Frans, Vidal, Jean-Sébastien, Vogelgsang, Jonathan, Vyhnalek, Martin, Wagner, Michael, Wallon, David, Wang, Li-San, Wang, Ruiqi, Weinhold, Leonie, Wiltfang, Jens, Windle, Gill, Woods, Bob, Yannakoulia, Mary, Zare, Habil, Zhao, Yi, Zhang, Xiaoling, Zhu, Congcong, Zulaica, Miren, Farrer, Lindsay A., Psaty, Bruce M., Ghanbari, Mohsen, Raj, Towfique, Sachdev, Perminder, Mather, Karen, Jessen, Frank, Ikram, M. Arfan, de Mendonça, Alexandre, Hort, Jakub, Tsolaki, Magda, Pericak-Vance, Margaret A., Amouyel, Philippe, Williams, Julie, Frikke-Schmidt, Ruth, Clarimon, Jordi, Deleuze, Jean-François, Rossi, Giacomina, Seshadri, Sudha, Andreassen, Ole A., Ingelsson, Martin, Hiltunen, Mikko, Sleegers, Kristel, Schellenberg, Gerard D., van Duijn, Cornelia M., Sims, Rebecca, van der Flier, Wiesje M., Ruiz, Agustín, Ramirez, Alfredo, and Lambert, Jean-Charles

Abstract

Characterization of the genetic landscape of Alzheimer’s disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/‘proxy’ AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOEε4 allele.

Published
2022
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3. Seroprevalencia de hepatitis C en población con factores de riesgo del suroeste de la Comunidad de Madrid

Author

Alonso López, Sonia, Agudo Fernández, Sandra, García del Val, Antonia, Martínez Abad, Mercedes, López Hermosa Seseña, Paloma, Izquierdo, María Jesús, Núñez, Isabel, Berbel León, Susana, Visedo Campillo, Lourdes, Guisado Pérez, Cristina, Sánchez Lozano, Sandra, Mariño Pfeiffer, Isabel, García Bermúdez, Lourdes, Sánchez Jiménez, Francisco Javier, López Vega, Elena, Zambrano Álvarez, Jesús, Castro Pastor, M. Luisa, Montes Ramírez, Guadalupe, Murillo, Cristina, Villafranca Ortega, Noelia, Ayuso Hernández, Isabel, Espejo, María, Lasala López, Pilar, Rodríguez Caravaca, Gil, Carrascosa Aguilar, Beatriz, Gutiérrez García, María Luisa, and Fernández Rodríguez, Conrado

Abstract

La seroprevalencia estimada del VHC en España es del 1,7%, cifra que es muy superior en la población con factores de riesgo. Se desconoce cuál sería la estrategia de cribado más eficiente en nuestro país.

Published
2024
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4. Comorbidity and low use of new antiplatelets in acute coronary syndrome.

Author

Aboal, Jaime, Llaó, Isaac, García García, Cosme, Sans-Roselló, Jordi, Sambola, Antonia, Andrea, Rut, Tomás, Carlos, Bonet, Gil, Ariza-Solé, Albert, Viñas, David, Oliveras Vilà, Teresa, Montero, Santiago, Cantalapiedra, Javier, Pujol-López, Margarida, Hernández, Isabel, Pérez-Rodriguez, María, Loma-Osorio, Pablo, and Sánchez-Salado, José Carlos

Abstract

Introduction: Despite the use of the new generation P2Y12 inhibitors (Ticagrelor and Prasugrel) with aspirin is the recommended therapy in acute NSTE-ACS patients, their current use in clinical practice remains quite low and might be related, among several variables, with increased comorbidity burden. We aimed to assess the prevalence of these treatments and whether their use could be associated with comorbidity. Method: A multicentric prospective registry was conducted at 8 Cardiac Intensive Care Units (October 2017–April 2018) in patients admitted with non ST elevation myocardial infarction. Antithrombotic treatment was recorded and the comorbidity risk was assessed using the Charlson Comorbidity Index. We created a multivariate model to identify the independent predictors of the use of new inhibitors of P2Y12. Results: A total of 629 patients were included, median age 67 years, 23.2% women, 359 patients (57.1%) treated with clopidogrel and 40.6% with new P2Y12 inhibitors: ticagrelor (228 patients, 36.2%) and prasugrel (30 patients, 4.8%). Among the patients with very high comorbidity (Charlson Score > 6) clopidogrel was the drug of choice (82.6%), meanwhile in patients with low comorbility (Charlson Score 0–1) was the ticagrelor or prasugrel (63.6%). Independent predictors of the use of ticagrelor or prasugrel were a low Charlson Comorbidity Index, a low CRUSADE score and the absence of prior bleeding. Conclusion: Antiplatelet treatment with Ticagrelor or Pasugrel was low in patients admitted with NSTE-ACS. Comorbidity calculated with Charlson Comorbidity Index was a powerful predictor of the use of new generation P2Y12 inhibitors in this population. [ABSTRACT FROM AUTHOR]

Published
2020
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5. Identity and linguistic acculturation expectations. The attitudes of Western Catalan high-school students towards Moroccans and Romanians.

Author

Sáenz- Hernández, Isabel, Lapresta-Rey, Cecilio, Ianos, Maria Adelina, and Petreñas, Cristina

Subjects
IMMIGRANTS, AFFINITY groups, CATALANS, SELF-perception, ACCULTURATION, LINGUISTICS, ROMANIANS, EMIGRATION & immigration, PSYCHOLOGY of high school students, SOCIAL classes, SCALE analysis (Psychology)
Abstract

This study analyzes the influence of identity complexity on the linguistic acculturation expectations that Catalan high-school students hold towards their peers of Moroccan and Romanian origin. It also takes into account social status and cultural proximity, expecting higher expectations of linguistic integration towards Romanians. Using a 5-point Likert scale, 345 autochthonous high-school students were asked about their degree of self-identification with Spain and Catalonia. Then, they responded to several questions concerning linguistic acculturation expectations regarding Romanians and Moroccans. While integration is the most popular profile for all three groups, the bicultural identity group scored the highest, followed by the Catalan identity group and the Spanish identity group ranking last. Bicultural identification was also a significant predictor for all integration measures, as was Catalan identification for 'integration to Catalan' and 'integration to Spanish and Catalan'. However, the distinctions between answers regarding Romanians and Moroccans were scant. We conclude that incorporating the languages of immigration into a bilingual host society is not only possible, this type of community may even be more welcoming. The potential of working with the concept of identity complexity to decrease black and white thinking and foster tolerance is also discussed. [ABSTRACT FROM AUTHOR]

Published
2020
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6. Genome‐wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project.

Author

Moreno‐Grau, Sonia, de Rojas, Itziar, Hernández, Isabel, Quintela, Inés, Montrreal, Laura, Alegret, Montserrat, Hernández‐Olasagarre, Begoña, Madrid, Laura, González‐Perez, Antonio, Maroñas, Olalla, Rosende‐Roca, Maitée, Mauleón, Ana, Vargas, Liliana, Lafuente, Asunción, Abdelnour, Carla, Rodríguez‐Gómez, Octavio, Gil, Silvia, Santos‐Santos, Miguel Ángel, Espinosa, Ana, and Ortega, Gemma

Abstract

Introduction: Large variability among Alzheimer's disease (AD) cases might impact genetic discoveries and complicate dissection of underlying biological pathways. Methods: Genome Research at Fundacio ACE (GR@ACE) is a genome‐wide study of dementia and its clinical endophenotypes, defined based on AD's clinical certainty and vascular burden. We assessed the impact of known AD loci across endophenotypes to generate loci categories. We incorporated gene coexpression data and conducted pathway analysis per category. Finally, to evaluate the effect of heterogeneity in genetic studies, GR@ACE series were meta‐analyzed with additional genome‐wide association study data sets. Results: We classified known AD loci into three categories, which might reflect the disease clinical heterogeneity. Vascular processes were only detected as a causal mechanism in probable AD. The meta‐analysis strategy revealed the ANKRD31‐rs4704171 and NDUFAF6‐rs10098778 and confirmed SCIMP‐rs7225151 and CD33‐rs3865444. Discussion: The regulation of vasculature is a prominent causal component of probable AD. GR@ACE meta‐analysis revealed novel AD genetic signals, strongly driven by the presence of clinical heterogeneity in the AD series. Highlights: We detected three gene categories operating differently in AD subgroups of patients.Vasculature regulation may be an essential part of the causative mechanism in pure AD.Two novel signals reached genome‐wide significance in ANKRD31 and NDUFAF6loci.We confirmed SCIMP‐rs7225151 and CD33‐rs3865444 to be genome‐wide significant.Genetic discoveries are strongly impacted by the presence of subgroups of AD. [ABSTRACT FROM AUTHOR]

Published
2019
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7. Comorbidity and low use of new antiplatelets in acute coronary syndrome

Author

Aboal, Jaime, Llaó, Isaac, García García, Cosme, Sans-Roselló, Jordi, Sambola, Antonia, Andrea, Rut, Tomás, Carlos, Bonet, Gil, Ariza-Solé, Albert, Viñas, David, Oliveras Vilà, Teresa, Montero, Santiago, Cantalapiedra, Javier, Pujol-López, Margarida, Hernández, Isabel, Pérez-Rodriguez, María, Loma-Osorio, Pablo, and Sánchez-Salado, José Carlos

Abstract

Introduction: Despite the use of the new generation P2Y12 inhibitors (Ticagrelor and Prasugrel) with aspirin is the recommended therapy in acute NSTE-ACS patients, their current use in clinical practice remains quite low and might be related, among several variables, with increased comorbidity burden. We aimed to assess the prevalence of these treatments and whether their use could be associated with comorbidity. Method: A multicentric prospective registry was conducted at 8 Cardiac Intensive Care Units (October 2017–April 2018) in patients admitted with non ST elevation myocardial infarction. Antithrombotic treatment was recorded and the comorbidity risk was assessed using the Charlson Comorbidity Index. We created a multivariate model to identify the independent predictors of the use of new inhibitors of P2Y12. Results: A total of 629 patients were included, median age 67 years, 23.2% women, 359 patients (57.1%) treated with clopidogrel and 40.6% with new P2Y12 inhibitors: ticagrelor (228 patients, 36.2%) and prasugrel (30 patients, 4.8%). Among the patients with very high comorbidity (Charlson Score > 6) clopidogrel was the drug of choice (82.6%), meanwhile in patients with low comorbility (Charlson Score 0–1) was the ticagrelor or prasugrel (63.6%). Independent predictors of the use of ticagrelor or prasugrel were a low Charlson Comorbidity Index, a low CRUSADE score and the absence of prior bleeding. Conclusion: Antiplatelet treatment with Ticagrelor or Pasugrel was low in patients admitted with NSTE-ACS. Comorbidity calculated with Charlson Comorbidity Index was a powerful predictor of the use of new generation P2Y12 inhibitors in this population.

Published
2020
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8. Degenerations of Jordan Superalgebras

Author

Alvarez, María, Hernández, Isabel, and Kaygorodov, Ivan

Abstract

We describe degenerations of three-dimensional Jordan superalgebras over $$\mathbb {C}$$ C . In particular, we describe all irreducible components in the corresponding varieties.

Published
2019
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9. Exploring APOE genotype effects on Alzheimer's disease risk and amyloid β burden in individuals with subjective cognitive decline: The FundacioACE Healthy Brain Initiative (FACEHBI) study baseline results.

Author

Moreno–Grau, Sonia, Rodríguez‐Gómez, Octavio, Sanabria, Ángela, Pérez‐Cordón, Alba, Sánchez‐Ruiz, Domingo, Abdelnour, Carla, Valero, Sergi, Hernández, Isabel, Rosende‐Roca, Maitée, Mauleón, Ana, Vargas, Liliana, Lafuente, Asunción, Gil, Silvia, Santos‐Santos, Miguel Ángel, Alegret, Montserrat, Espinosa, Ana, Ortega, Gemma, Guitart, Marina, Gailhajanet, Anna, and de Rojas, Itziar

Abstract

Introduction: Subjective cognitive decline (SCD) has been proposed as a potential preclinical stage of Alzheimer's disease (AD). Nevertheless, the genetic and biomarker profiles of SCD individuals remain mostly unexplored. Methods: We evaluated apolipoprotein E (APOE) ε4's effect in the risk of presenting SCD, using the Fundacio ACE Healthy Brain Initiative (FACEHBI) SCD cohort and Spanish controls, and performed a meta‐analysis addressing the same question. We assessed the relationship between APOE dosage and brain amyloid burden in the FACEHBI SCD and Alzheimer's Disease Neuroimaging Initiative cohorts. Results: Analysis of the FACEHBI cohort and the meta‐analysis demonstrated SCD individuals presented higher allelic frequencies of APOE ε4 with respect to controls. APOE dosage explained 9% (FACEHBI cohort) and 11% (FACEHBI and Alzheimer's Disease Neuroimaging Initiative cohorts) of the variance of cerebral amyloid levels. Discussion: The FACEHBI sample presents APOE ε4 enrichment, suggesting that a pool of AD patients is nested in our sample. Cerebral amyloid levels are partially explained by the APOE allele dosage, suggesting that other genetic or epigenetic factors are involved in this AD endophenotype. Highlights: The FACEHBI sample presents APOE ε4 enrichment, suggesting it contains a pool of AD patients.APOE ε4 is a risk factor of being diagnosed with SCD.APOE ε4 only explains ≈10% of brain amyloid burden variability in SCD.The relationship between APOE and brain amyloid burden across clinical diagnoses highlights the importance of adjusting for clinical status when conducting GWAS of cerebral Aβ levels. [ABSTRACT FROM AUTHOR]

Published
2018
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10. Derivación de pacientes en consulta de dermatología y de teledermatología en España. Estudio DIADERM

Author

González-López, G., Descalzo-Gallego, M.Á., Arias-Santiago, S., Molina-Leyva, A., Gilaberte, Y., Fernández-Crehuet, P., Husein-El Ahmed, H., Viera-Ramírez, A., Fernández-Peñas, P., Taberner, R., García-Doval, I., Buendía-Eisman, A., Buendía, Agustín, Fernández-Crehuet, Pablo, Husein-ElAhmed, Husein, Vega, Jesús, Viera, Agustín, Manuel Carrascosa, José, Ferrán, Marta, Gómez, Enrique, Ascanio, Lucia, García Doval, Ignacio, Arias, Salvador, Gilaberte, Yolanda, Sánchez, Juan A., Serrano, Amalia, Castillo, Rosa, Fernandez, Ramón, Armario, José, Lluc Cantalejo, Carolina, Albarrán, Cristina, Cruz Martín, María, Martín, Juan Antonio, Barabash, Román, Pérez, Lara, Salamanca, Manuel, Hernández, Carlos, Millán, José Francisco, Ruiz, Inmaculada, Armesto, Susana, González, Marta, Beteta, Valia, Cuadrado de Valles, Concepción, Cristóbal, Pilar, Roth, María Magdalena, Garcias, Juan, Fernandez de Misa, Ricardo, García, Estela, Rivero, María del Pino, Suárez, José, Farthmann, Birgit, Álvarez, Alba, García, Irene, Morales, Caridad Elena, Zemba, María Cristina, Repiso, Trinidad, Sastre, Carmen, Ubals, María, Fernández, Alejandro, González, Urbà, Grimalt, Ramón, Gómez, Sara, López, Ingrid, Gemigniani, Franco Antonio, Izquierdo, María José, Alfageme, Fernando, Barrientos, Nuria, Pericet, Laura María, Vidal, Santiago, Camarero, Celia, Lázaro, Pablo, García, Cristina, de Pablo, María Pilar, Herranz, Pedro, del Olmo, Natalia, Castellanos, María, Jiménez, Natalia, Aboín, Sonsoles, Aldanondo, Isabel, Juanes, Adriana, Arranz, Dulce María, González, Olga, Casas, Luis, Vázquez, Juan José, Peña, Carmen, Cubero, José Luis, Feal, Carlos, Mayo, María Eugenia, Iglesias, Nicolás, Rojo, Rafael, Aniz, Elfidia, Kindem, Sabrina, Barrado, Nerea, Tirado, Marisa, Quecedo, Ester, Hernández, Isabel, Sahuquillo, Antonio, Bella, Rebeca, García, Ramón, Calle, Anaid, Messeguer, Francesc, Alfaro, Alberto, Casanova, Luisa, Aspe, Libe, Moreno, María Pilar, Trébol, Izaskun, Serrano, Gonzalo, Alcalde, Víctor Manuel, García, Patricia, and Coscojuela, Carmen

Abstract

El conocimiento de las rutas de origen y derivación de los pacientes atendidos en consulta dermatológica presencial y de teledermatología en España tiene interés desde el punto de vista de la gestión sanitaria. El objetivo de este estudio es describir las rutas de derivación y la frecuencia y características de la teledermatología en España.

Published
2019
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11. Referral of Patients to Dermatology and Teledermatology Consultations in Spain. DIADERM Study

Author

González-López, G., Descalzo-Gallego, M.Á., Arias-Santiago, S., Molina-Leyva, A., Gilaberte, Y., Fernández-Crehuet, P., Husein-El Ahmed, H., Viera-Ramírez, A., Fernández-Peñas, P., Taberner, R., García-Doval, I., Buendía-Eisman, A., Buendía, Agustín, Fernández-Crehuet, Pablo, Husein-ElAhmed, Husein, Vega, Jesús, Viera, Agustín, Manuel Carrascosa, José, Ferrán, Marta, Gómez, Enrique, Ascanio, Lucia, García Doval, Ignacio, Arias, Salvador, Gilaberte, Yolanda, Sánchez, Juan A., Serrano, Amalia, Castillo, Rosa, Fernandez, Ramón, Armario, José, Lluc Cantalejo, Carolina, Albarrán, Cristina, Cruz Martín, María, Martín, Juan Antonio, Barabash, Román, Pérez, Lara, Salamanca, Manuel, Hernández, Carlos, Millán, José Francisco, Ruiz, Inmaculada, Armesto, Susana, González, Marta, Beteta, Valia, Cuadrado de Valles, Concepción, Cristóbal, Pilar, Roth, María Magdalena, Garcias, Juan, Fernandez de Misa, Ricardo, García, Estela, Rivero, María del Pino, Suárez, José, Farthmann, Birgit, Álvarez, Alba, García, Irene, Morales, Caridad Elena, Zemba, María Cristina, Repiso, Trinidad, Sastre, Carmen, Ubals, María, Fernández, Alejandro, González, Urbà, Grimalt, Ramón, Gómez, Sara, López, Ingrid, Gemigniani, Franco Antonio, Izquierdo, María José, Alfageme, Fernando, Barrientos, Nuria, Pericet, Laura María, Vidal, Santiago, Camarero, Celia, Lázaro, Pablo, García, Cristina, de Pablo, María Pilar, Herranz, Pedro, del Olmo, Natalia, Castellanos, María, Jiménez, Natalia, Aboín, Sonsoles, Aldanondo, Isabel, Juanes, Adriana, Arranz, Dulce María, González, Olga, Casas, Luis, Vázquez, Juan José, Peña, Carmen, Cubero, José Luis, Feal, Carlos, Mayo, María Eugenia, Iglesias, Nicolás, Rojo, Rafael, Aniz, Elfidia, Kindem, Sabrina, Barrado, Nerea, Tirado, Marisa, Quecedo, Ester, Hernández, Isabel, Sahuquillo, Antonio, Bella, Rebeca, García, Ramón, Calle, Anaid, Messeguer, Francesc, Alfaro, Alberto, Casanova, Luisa, Aspe, Libe, Moreno, María Pilar, Trébol, Izaskun, Serrano, Gonzalo, Alcalde, Víctor Manuel, García, Patricia, and Coscojuela, Carmen

Abstract

Understanding the origin and referral routes of patients seen in teledermatology and in-person dermatology consultations in Spain is of interest from the perspective of health care management. The objective of this study was to describe the referral routes and the frequency and characteristics of teledermatology consultations in Spain.

Published
2019
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12. Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Author

Kunkle, Brian W., Grenier-Boley, Benjamin, Sims, Rebecca, Bis, Joshua C., Damotte, Vincent, Naj, Adam C., Boland, Anne, Vronskaya, Maria, van der Lee, Sven J., Amlie-Wolf, Alexandre, Bellenguez, Céline, Frizatti, Aura, Chouraki, Vincent, Martin, Eden R., Sleegers, Kristel, Badarinarayan, Nandini, Jakobsdottir, Johanna, Hamilton-Nelson, Kara L., Moreno-Grau, Sonia, Olaso, Robert, Raybould, Rachel, Chen, Yuning, Kuzma, Amanda B., Hiltunen, Mikko, Morgan, Taniesha, Ahmad, Shahzad, Vardarajan, Badri N., Epelbaum, Jacques, Hoffmann, Per, Boada, Merce, Beecham, Gary W., Garnier, Jean-Guillaume, Harold, Denise, Fitzpatrick, Annette L., Valladares, Otto, Moutet, Marie-Laure, Gerrish, Amy, Smith, Albert V., Qu, Liming, Bacq, Delphine, Denning, Nicola, Jian, Xueqiu, Zhao, Yi, Del Zompo, Maria, Fox, Nick C., Choi, Seung-Hoan, Mateo, Ignacio, Hughes, Joseph T., Adams, Hieab H., Malamon, John, Sanchez-Garcia, Florentino, Patel, Yogen, Brody, Jennifer A., Dombroski, Beth A., Naranjo, Maria Candida Deniz, Daniilidou, Makrina, Eiriksdottir, Gudny, Mukherjee, Shubhabrata, Wallon, David, Uphill, James, Aspelund, Thor, Cantwell, Laura B., Garzia, Fabienne, Galimberti, Daniela, Hofer, Edith, Butkiewicz, Mariusz, Fin, Bertrand, Scarpini, Elio, Sarnowski, Chloe, Bush, Will S., Meslage, Stéphane, Kornhuber, Johannes, White, Charles C., Song, Yuenjoo, Barber, Robert C., Engelborghs, Sebastiaan, Sordon, Sabrina, Voijnovic, Dina, Adams, Perrie M., Vandenberghe, Rik, Mayhaus, Manuel, Cupples, L. Adrienne, Albert, Marilyn S., De Deyn, Peter P., Gu, Wei, Himali, Jayanadra J., Beekly, Duane, Squassina, Alessio, Hartmann, Annette M., Orellana, Adelina, Blacker, Deborah, Rodriguez-Rodriguez, Eloy, Lovestone, Simon, Garcia, Melissa E., Doody, Rachelle S., Munoz-Fernadez, Carmen, Sussams, Rebecca, Lin, Honghuang, Fairchild, Thomas J., Benito, Yolanda A., Holmes, Clive, Karamujić-Čomić, Hata, Frosch, Matthew P., Thonberg, Hakan, Maier, Wolfgang, Roshchupkin, Gennady, Ghetti, Bernardino, Giedraitis, Vilmantas, Kawalia, Amit, Li, Shuo, Huebinger, Ryan M., Kilander, Lena, Moebus, Susanne, Hernández, Isabel, Kamboh, M. Ilyas, Brundin, RoseMarie, Turton, James, Yang, Qiong, Katz, Mindy J., Concari, Letizia, Lord, Jenny, Beiser, Alexa S., Keene, C. Dirk, Helisalmi, Seppo, Kloszewska, Iwona, Kukull, Walter A., Koivisto, Anne Maria, Lynch, Aoibhinn, Tarraga, Lluís, Larson, Eric B., Haapasalo, Annakaisa, Lawlor, Brian, Mosley, Thomas H., Lipton, Richard B., Solfrizzi, Vincenzo, Gill, Michael, Longstreth, W. T., Montine, Thomas J., Frisardi, Vincenza, Diez-Fairen, Monica, Rivadeneira, Fernando, Petersen, Ronald C., Deramecourt, Vincent, Alvarez, Ignacio, Salani, Francesca, Ciaramella, Antonio, Boerwinkle, Eric, Reiman, Eric M., Fievet, Nathalie, Rotter, Jerome I., Reisch, Joan S., Hanon, Olivier, Cupidi, Chiara, Andre Uitterlinden, A. G., Royall, Donald R., Dufouil, Carole, Maletta, Raffaele Giovanni, de Rojas, Itziar, Sano, Mary, Brice, Alexis, Cecchetti, Roberta, George-Hyslop, Peter St, Ritchie, Karen, Tsolaki, Magda, Tsuang, Debby W., Dubois, Bruno, Craig, David, Wu, Chuang-Kuo, Soininen, Hilkka, Avramidou, Despoina, Albin, Roger L., Fratiglioni, Laura, Germanou, Antonia, Apostolova, Liana G., Keller, Lina, Koutroumani, Maria, Arnold, Steven E., Panza, Francesco, Gkatzima, Olymbia, Asthana, Sanjay, Hannequin, Didier, Whitehead, Patrice, Atwood, Craig S., Caffarra, Paolo, Hampel, Harald, Quintela, Inés, Carracedo, Ángel, Lannfelt, Lars, Rubinsztein, David C., Barnes, Lisa L., Pasquier, Florence, Frölich, Lutz, Barral, Sandra, McGuinness, Bernadette, Beach, Thomas G., Johnston, Janet A., Becker, James T., Passmore, Peter, Bigio, Eileen H., Schott, Jonathan M., Bird, Thomas D., Warren, Jason D., Boeve, Bradley F., Lupton, Michelle K., Bowen, James D., Proitsi, Petra, Boxer, Adam, Powell, John F., Burke, James R., Kauwe, John S. K., Burns, Jeffrey M., Mancuso, Michelangelo, Buxbaum, Joseph D., Bonuccelli, Ubaldo, Cairns, Nigel J., McQuillin, Andrew, Cao, Chuanhai, Livingston, Gill, Carlson, Chris S., Bass, Nicholas J., Carlsson, Cynthia M., Hardy, John, Carney, Regina M., Bras, Jose, Carrasquillo, Minerva M., Guerreiro, Rita, Allen, Mariet, Chui, Helena C., Fisher, Elizabeth, Masullo, Carlo, Crocco, Elizabeth A., DeCarli, Charles, Bisceglio, Gina, Dick, Malcolm, Ma, Li, Duara, Ranjan, Graff-Radford, Neill R., Evans, Denis A., Hodges, Angela, Faber, Kelley M., Scherer, Martin, Fallon, Kenneth B., Riemenschneider, Matthias, Fardo, David W., Heun, Reinhard, Farlow, Martin R., Kölsch, Heike, Ferris, Steven, Leber, Markus, Foroud, Tatiana M., Heuser, Isabella, Galasko, Douglas R., Giegling, Ina, Gearing, Marla, Hüll, Michael, Geschwind, Daniel H., Gilbert, John R., Morris, John, Green, Robert C., Mayo, Kevin, Growdon, John H., Feulner, Thomas, Hamilton, Ronald L., Harrell, Lindy E., Drichel, Dmitriy, Honig, Lawrence S., Cushion, Thomas D., Huentelman, Matthew J., Hollingworth, Paul, Hulette, Christine M., Hyman, Bradley T., Marshall, Rachel, Jarvik, Gail P., Meggy, Alun, Abner, Erin, Menzies, Georgina E., Jin, Lee-Way, Leonenko, Ganna, Real, Luis M., Jun, Gyungah R., Baldwin, Clinton T., Grozeva, Detelina, Karydas, Anna, Russo, Giancarlo, Kaye, Jeffrey A., Kim, Ronald, Jessen, Frank, Kowall, Neil W., Vellas, Bruno, Kramer, Joel H., Vardy, Emma, LaFerla, Frank M., Jöckel, Karl-Heinz, Lah, James J., Dichgans, Martin, Leverenz, James B., Mann, David, Levey, Allan I., Pickering-Brown, Stuart, Lieberman, Andrew P., Klopp, Norman, Lunetta, Kathryn L., Wichmann, H-Erich, Lyketsos, Constantine G., Morgan, Kevin, Marson, Daniel C., Brown, Kristelle, Martiniuk, Frank, Medway, Christopher, Mash, Deborah C., Nöthen, Markus M., Masliah, Eliezer, Hooper, Nigel M., McCormick, Wayne C., Daniele, Antonio, McCurry, Susan M., Bayer, Anthony, McDavid, Andrew N., Gallacher, John, McKee, Ann C., van den Bussche, Hendrik, Mesulam, Marsel, Brayne, Carol, Miller, Bruce L., Riedel-Heller, Steffi, Miller, Carol A., Miller, Joshua W., Al-Chalabi, Ammar, Morris, John C., Shaw, Christopher E., Myers, Amanda J., Wiltfang, Jens, O’Bryant, Sid, Olichney, John M., Alvarez, Victoria, Parisi, Joseph E., Singleton, Andrew B., Paulson, Henry L., Collinge, John, Perry, William R., Mead, Simon, Peskind, Elaine, Cribbs, David H., Rossor, Martin, Pierce, Aimee, Ryan, Natalie S., Poon, Wayne W., Nacmias, Benedetta, Potter, Huntington, Sorbi, Sandro, Quinn, Joseph F., Sacchinelli, Eleonora, Raj, Ashok, Spalletta, Gianfranco, Raskind, Murray, Caltagirone, Carlo, Bossù, Paola, Orfei, Maria Donata, Reisberg, Barry, Clarke, Robert, Reitz, Christiane, Smith, A David, Ringman, John M., Warden, Donald, Roberson, Erik D., Wilcock, Gordon, Rogaeva, Ekaterina, Bruni, Amalia Cecilia, Rosen, Howard J., Gallo, Maura, Rosenberg, Roger N., Ben-Shlomo, Yoav, Sager, Mark A., Mecocci, Patrizia, Saykin, Andrew J., Pastor, Pau, Cuccaro, Michael L., Vance, Jeffery M., Schneider, Julie A., Schneider, Lori S., Slifer, Susan, Seeley, William W., Smith, Amanda G., Sonnen, Joshua A., Spina, Salvatore, Stern, Robert A., Swerdlow, Russell H., Tang, Mitchell, Tanzi, Rudolph E., Trojanowski, John Q., Troncoso, Juan C., Van Deerlin, Vivianna M., Van Eldik, Linda J., Vinters, Harry V., Vonsattel, Jean Paul, Weintraub, Sandra, Welsh-Bohmer, Kathleen A., Wilhelmsen, Kirk C., Williamson, Jennifer, Wingo, Thomas S., Woltjer, Randall L., Wright, Clinton B., Yu, Chang-En, Yu, Lei, Saba, Yasaman, Pilotto, Alberto, Bullido, Maria J., Peters, Oliver, Crane, Paul K., Bennett, David, Bosco, Paola, Coto, Eliecer, Boccardi, Virginia, De Jager, Phil L., Lleo, Alberto, Warner, Nick, Lopez, Oscar L., Ingelsson, Martin, Deloukas, Panagiotis, Cruchaga, Carlos, Graff, Caroline, Gwilliam, Rhian, Fornage, Myriam, Goate, Alison M., Sanchez-Juan, Pascual, Kehoe, Patrick G., Amin, Najaf, Ertekin-Taner, Nilifur, Berr, Claudine, Debette, Stéphanie, Love, Seth, Launer, Lenore J., Younkin, Steven G., Dartigues, Jean-Francois, Corcoran, Chris, Ikram, M. Arfan, Dickson, Dennis W., Nicolas, Gael, Campion, Dominique, Tschanz, JoAnn, Schmidt, Helena, Hakonarson, Hakon, Clarimon, Jordi, Munger, Ron, Schmidt, Reinhold, Farrer, Lindsay A., Van Broeckhoven, Christine, C. O’Donovan, Michael, DeStefano, Anita L., Jones, Lesley, Haines, Jonathan L., Deleuze, Jean-Francois, Owen, Michael J., Gudnason, Vilmundur, Mayeux, Richard, Escott-Price, Valentina, Psaty, Bruce M., Ramirez, Alfredo, Wang, Li-San, Ruiz, Agustin, van Duijn, Cornelia M., Holmans, Peter A., Seshadri, Sudha, Williams, Julie, Amouyel, Phillippe, Schellenberg, Gerard D., Lambert, Jean-Charles, and Pericak-Vance, Margaret A.

Abstract

Risk for late-onset Alzheimer’s disease (LOAD), the most prevalent dementia, is partially driven by genetics. To identify LOAD risk loci, we performed a large genome-wide association meta-analysis of clinically diagnosed LOAD (94,437 individuals). We confirm 20 previous LOAD risk loci and identify five new genome-wide loci (IQCK, ACE, ADAM10, ADAMTS1,and WWOX), two of which (ADAM10, ACE) were identified in a recent genome-wide association (GWAS)-by-familial-proxy of Alzheimer’s or dementia. Fine-mapping of the human leukocyte antigen (HLA) region confirms the neurological and immune-mediated disease haplotype HLA-DR15 as a risk factor for LOAD. Pathway analysis implicates immunity, lipid metabolism, tau binding proteins, and amyloid precursor protein (APP) metabolism, showing that genetic variants affecting APP and Aβ processing are associated not only with early-onset autosomal dominant Alzheimer’s disease but also with LOAD. Analyses of risk genes and pathways show enrichment for rare variants (P= 1.32 × 10−7), indicating that additional rare variants remain to be identified. We also identify important genetic correlations between LOAD and traits such as family history of dementia and education.

Published
2019
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13. Extramedullary plasmacytoma in the maxillofacial region: A review of the literature and case report

Author

Merino, Francisco, Portillo Hernández, Isabel, Sánchez Aniceto, Gregorio, and Ballestín, Claudio

Abstract

Extramedullary Plasmacytoma is an uncommon cell dyscrasia, representing 1% of all head and neck tumours. Characteristically, EMP is a slowly growing neoplasm with pattern of growth that delays its diagnosis. Secondary to this evolution, most patients present symptoms related to the location of the mass.

Published
2018
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15. Shoulder arthroplasty. Comorbidity as prognostic factor

Author

Esteras-Serrano, Matías J., Ruiz-Hernández, Isabel M., Gimferrer-Arriaga, Josep O., Sánchez-Jimenez, Marcos, Far-Riera, Aina, and Rapariz, J.M.

Abstract

Preoperative comorbidity seems to be an important factor for the functional recovery of patients after shoulder replacement, but few studies support this correlation.

Published
2018
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16. Alzheimer's disease risk variants modulate endophenotypes in mild cognitive impairment.

Author

Louwersheimer, Eva, Wolfsgruber, Steffen, Espinosa, Ana, Lacour, André, Heilmann-Heimbach, Stefanie, Alegret, Montserrat, Hernández, Isabel, Rosende-Roca, Maitée, Tárraga, Lluís, Boada, Mercè, Kornhuber, Johannes, Peters, Oliver, Frölich, Lutz, Hüll, Michael, Rüther, Eckart, Wiltfang, Jens, Scherer, Martin, Riedel-Heller, Steffi, Jessen, Frank, and Nöthen, Markus M.

Abstract

Introduction We evaluated the effect of Alzheimer's disease (AD) susceptibility loci on endophenotypes closely related with AD pathology in patients with mild cognitive impairment (MCI). Methods We selected 1730 MCI patients from four independent data sets. Weighted polygenic risk scores (PGS) were constructed of 18 non-apolipoprotein E ( APOE ) AD risk variants. In addition, we determined APOE genotype. AD endophenotypes were cognitive decline over time and cerebrospinal fluid (CSF) biomarkers (aβ, tau, ptau). Results PGS was modestly associated with cognitive decline over time, as measured by mini-mental state examination (MMSE) (β ± SE:−0.24 ± 0.10; P = .012), and with CSF levels of tau and ptau (tau: 1.38 ± 0.36, P = 1.21 × 10 −4 ; ptau: 1.40 ± 0.36, P = 1.02 × 10 −4 ). Discussion In MCI, we observed a joint effect of AD susceptibility loci on nonamyloid endophenotypes, suggesting a link of these genetic loci with neuronal degeneration in general rather than with Alzheimer-related amyloid deposition. [ABSTRACT FROM AUTHOR]

Published
2016
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17. Design of a comprehensive Alzheimer’s disease clinic and research center in Spain to meet critical patient and family needs.

Author

Boada, Mercè, Tárraga, Lluís, Hernández, Isabel, Valero, Sergi, Alegret, Montserrat, Ruiz, Agustín, Lopez, Oscar L., and Becker, James T.

Abstract

Abstract: Objectives: Alzheimer's disease (AD) affects people worldwide, and the prevalence is increasing as the population ages. There is an international effort to understand the biology of AD to develop primary and secondary prevention strategies, and to develop effective therapeutic interventions for individuals who are already symptomatic. One of the critically important pieces of all national plans to address AD is the call for the development of service models to deliver quality, effective care based on the best evidence available. Methods: We describe one type of care model developed by the Fundacio ACE, Institut Catala de Neurociencies Aplicades (Fundacio ACE, Barcelona, Spain) that integrates diagnosis, therapy, follow-up care, daycare, and a day hospital, and does so in the context of an active clinical research and educational program. Results: There were 13,048 individuals newly evaluated and diagnosed in Fundacio ACE between 1996 and 2011. Of these, 6132 had AD (47.0%), 3871 had mild cognitive impairment (MCI) (29.7%), and 1958 had no cognitive impairment (15.0%). Follow-up information is available on 4735 (47.3%) AD and MCI patients, and these data indicate that MCI develops into dementia at a rate of 222.6/1000 person-years. Apolipoprotein E (APOE) genotyping was available in 22.4% of the patients. The ε4 allele occurred in 45.7% of the AD patients, in 37.8% of the MCI subjects, and in 31.6% of those without cognitive impairment. Conclusions: Fundació ACE can serve as a model system that can be adapted to other settings within their specific cultural, governmental, and legal constraints. [Copyright &y& Elsevier]

Published
2014
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19. From Spain to the Americas, from the Convent to the Front: Catalina de Erauso's Shifting Identities.

Author

Hernández, Isabel

Abstract

The article discusses the book "Historia de la Monja Alférez, Catalina de Erauso, escrita por ella misma," an autobiographical work by 17th-century Spanish traveler Catalina de Erauso, as a means to explore the construction of literary identity in travel and adventure writing. Catalina was forced to attend a convent by her family but escaped and traveled to South America disguised as a man, where she enjoyed the life of a man and army lieutenant. While the novel is typical of Spanish Golden Age literature in its use of the picaresque, it also represents a unique combination of fiction and history.

Published
2011
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20. Non-therapeutic male circumcision performed on immigrant children from Africa in Spain

Author

Macipe-Costa, Rosa, García-Sanchez, Nuria, Gimeno-Feliu, Luis, Navarra-Vicente, Beatriz, Jiménez-Hereza, Juan, Moneo-Hernández, Isabel, Castillo-Laita, Jose, and Lobera-Navaz, Pilar

Abstract

To study the frequency, characteristics, and complications of non-therapeutic male circumcision on immigrant children from Africa in Spain. This descriptive study focused on primary care consultations conducted at 21 Aragon health centres during 2010 and 2011. The data were gathered through interviewer-administered questionnaires to the parents of African children. Sociodemographic variables were studied, along with others related to the practice of circumcision. 283 questionnaires were obtained. 98.93 % of the children had undergone or were planning to undergo circumcision. 68.2 % were circumcised. Circumcisions were most frequently performed during a vacation to the country of origin (67.04 %), especially so for the Maghreb population. The remaining circumcisions had been performed in Spain. Half of the circumcisions practiced in Spain were performed at home, and 84 % of these were performed on Gambian children. The current study demonstrates that, in Aragon, Spain, almost all immigrant children from Africa have been or will be circumcised and that a considerable proportion has been circumcised at home by unqualified individuals. Gambians are particularly at risk of performing unsafe circumcision.

Published
2014
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21. Investigation of C9orf72 in 4 Neurodegenerative Disorders

Author

Xi, Zhengrui, Zinman, Lorne, Grinberg, Yakov, Moreno, Danielle, Sato, Christine, Bilbao, Juan M., Ghani, Mahdi, Hernández, Isabel, Ruiz, Agustín, Boada, Mercè, Morón, Francisco J., Lang, Anthony E., Marras, Connie, Bruni, Amalia, Colao, Rosanna, Maletta, Raffaele G., Puccio, Gianfranco, Rainero, Innocenzo, Pinessi, Lorenzo, Galimberti, Daniela, Morrison, Karen E., Moorby, Catriona, Stockton, Joanne D., Masellis, Mario, Black, Sandra E., Hazrati, Lili-Naz, Liang, Yan, van Haersma de With, Jan, Fornazzari, Luis, Villagra, Roque, Rojas-Garcia, Ricardo, Clarimón, Jordi, Mayeux, Richard, Robertson, Janice, St George-Hyslop, Peter, and Rogaeva, Ekaterina

Abstract

OBJECTIVE To estimate the allele frequency of C9orf72 (G4C2) repeats in amyotrophic lateral sclerosis (ALS), frontotemporal lobar degeneration (FTLD), Alzheimer disease (AD), and Parkinson disease (PD). DESIGN The number of repeats was estimated by a 2-step genotyping strategy. For expansion carriers, we sequenced the repeat flanking regions and obtained APOE genotypes and MAPT H1/H2 haplotypes. SETTING Hospitals specializing in neurodegenerative disorders. SUBJECTS We analyzed 520 patients with FTLD, 389 patients with ALS, 424 patients with AD, 289 patients with PD, 602 controls, 18 families, and 29 patients with PD with the LRRK2 G2019S mutation. MAIN OUTCOME MEASURE The expansion frequency. RESULTS Based on a prior cutoff (>30 repeats), the expansion was detected in 9.3% of patients with ALS, 5.2% of patients with FTLD, and 0.7% of patients with PD but not in controls or patients with AD. It was significantly associated with family history of ALS or FTLD and age at onset of FTLD. Phenotype variation (ALS vs FTLD) was not associated with MAPT, APOE, or variability in the repeat flanking regions. Two patients with PD were carriers of 39 and 32 repeats with questionable pathological significance, since the 39-repeat allele does not segregate with PD. No expansion or intermediate alleles (20-29 repeats) were found among the G2019S carriers and AD cases with TAR DNA-binding protein 43–positive inclusions. Surprisingly, the frequency of the 10-repeat allele was marginally increased in all 4 neurodegenerative diseases compared with controls, indicating the presence of an unknown risk variation in the C9orf72 locus. CONCLUSIONS The C9orf72 expansion is a common cause of ALS and FTLD, but not of AD or PD. Our study raises concern about a reliable cutoff for the pathological repeat number, which is important in the utility of genetic screening.

Published
2012
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23. Effect of estrogen and angiotensin-converting enzyme inhibitor on vascular remodeling in ovariectomized spontaneously hypertensive rats

Author

García, Maria P., Giménez, Jose, Serna, Mar, Salom, Miguel G., Bonacasa, Bárbara, Carbonell, Luis F., Quesada, Tomas, and Hernández, Isabel

Abstract

The present study evaluated whether estrogen influences the effect of angiotensin-converting enzyme inhibition in preventing the vascular remodeling induced by hypertension and also investigated the signal mechanism involved in that effect.

Published
2006
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24. Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Author

Kunkle, Brian, Grenier-Boley, Benjamin, Sims, Rebecca, Bis, Joshua, Damotte, Vincent, Naj, Adam, Boland, Anne, Vronskaya, Maria, Lee, Sven, Amlie-Wolf, Alexandre, Bellenguez, Céline, Frizatti, Aura, Chouraki, Vincent, Martin, Eden, Sleegers, Kristel, Badarinarayan, Nandini, Jakobsdottir, Johanna, Hamilton-Nelson, Kara, Moreno-Grau, Sonia, Olaso, Robert, Raybould, Rachel, Chen, Yuning, Kuzma, Amanda, Hiltunen, Mikko, Morgan, Taniesha, Ahmad, Shahzad, Vardarajan, Badri, Epelbaum, Jacques, Hoffmann, Per, Boada, Merce, Beecham, Gary, Garnier, Jean-Guillaume, Harold, Denise, Fitzpatrick, Annette, Valladares, Otto, Moutet, Marie-Laure, Gerrish, Amy, Smith, Albert, Qu, Liming, Bacq, Delphine, Denning, Nicola, Jian, Xueqiu, Zhao, Yi, Zompo, Maria, Fox, Nick, Choi, Seung-Hoan, Mateo, Ignacio, Hughes, Joseph, Adams, Hieab, Malamon, John, Sanchez-Garcia, Florentino, Patel, Yogen, Brody, Jennifer, Dombroski, Beth, Naranjo, Maria, Daniilidou, Makrina, Eiriksdottir, Gudny, Mukherjee, Shubhabrata, Wallon, David, Uphill, James, Aspelund, Thor, Cantwell, Laura, Garzia, Fabienne, Galimberti, Daniela, Hofer, Edith, Butkiewicz, Mariusz, Fin, Bertrand, Scarpini, Elio, Sarnowski, Chloe, Bush, Will, Meslage, Stéphane, Kornhuber, Johannes, White, Charles, Song, Yuenjoo, Barber, Robert, Engelborghs, Sebastiaan, Sordon, Sabrina, Voijnovic, Dina, Adams, Perrie, Vandenberghe, Rik, Mayhaus, Manuel, Cupples, L., Albert, Marilyn, Deyn, Peter, Gu, Wei, Himali, Jayanadra, Beekly, Duane, Squassina, Alessio, Hartmann, Annette, Orellana, Adelina, Blacker, Deborah, Rodriguez-Rodriguez, Eloy, Lovestone, Simon, Garcia, Melissa, Doody, Rachelle, Munoz-Fernadez, Carmen, Sussams, Rebecca, Lin, Honghuang, Fairchild, Thomas, Benito, Yolanda, Holmes, Clive, Karamujić-Čomić, Hata, Frosch, Matthew, Thonberg, Hakan, Maier, Wolfgang, Roshchupkin, Gennady, Ghetti, Bernardino, Giedraitis, Vilmantas, Kawalia, Amit, Li, Shuo, Huebinger, Ryan, Kilander, Lena, Moebus, Susanne, Hernández, Isabel, Kamboh, M., Brundin, RoseMarie, Turton, James, Yang, Qiong, Katz, Mindy, Concari, Letizia, Lord, Jenny, Beiser, Alexa, Keene, C., Helisalmi, Seppo, Kloszewska, Iwona, Kukull, Walter, Koivisto, Anne, Lynch, Aoibhinn, Tarraga, Lluís, Larson, Eric, Haapasalo, Annakaisa, Lawlor, Brian, Mosley, Thomas, Lipton, Richard, Solfrizzi, Vincenzo, Gill, Michael, Longstreth, W., Montine, Thomas, Frisardi, Vincenza, Diez-Fairen, Monica, Rivadeneira, Fernando, Petersen, Ronald, Deramecourt, Vincent, Alvarez, Ignacio, Salani, Francesca, Ciaramella, Antonio, Boerwinkle, Eric, Reiman, Eric, Fievet, Nathalie, Rotter, Jerome, Reisch, Joan, Hanon, Olivier, Cupidi, Chiara, Uitterlinden, A., Royall, Donald, Dufouil, Carole, Maletta, Raffaele, Rojas, Itziar, Sano, Mary, Brice, Alexis, Cecchetti, Roberta, George-Hyslop, Peter, Ritchie, Karen, Tsolaki, Magda, Tsuang, Debby, Dubois, Bruno, Craig, David, Wu, Chuang-Kuo, Soininen, Hilkka, Avramidou, Despoina, Albin, Roger, Fratiglioni, Laura, Germanou, Antonia, Apostolova, Liana, Keller, Lina, Koutroumani, Maria, Arnold, Steven, Panza, Francesco, Gkatzima, Olymbia, Asthana, Sanjay, Hannequin, Didier, Whitehead, Patrice, Atwood, Craig, Caffarra, Paolo, Hampel, Harald, Quintela, Inés, Carracedo, Ángel, Lannfelt, Lars, Rubinsztein, David, Barnes, Lisa, Pasquier, Florence, Frölich, Lutz, Barral, Sandra, McGuinness, Bernadette, Beach, Thomas, Johnston, Janet, Becker, James, Passmore, Peter, Bigio, Eileen, Schott, Jonathan, Bird, Thomas, Warren, Jason, Boeve, Bradley, Lupton, Michelle, Bowen, James, Proitsi, Petra, Boxer, Adam, Powell, John, Burke, James, Kauwe, John, Burns, Jeffrey, Mancuso, Michelangelo, Buxbaum, Joseph, Bonuccelli, Ubaldo, Cairns, Nigel, McQuillin, Andrew, Cao, Chuanhai, Livingston, Gill, Carlson, Chris, Bass, Nicholas, Carlsson, Cynthia, Hardy, John, Carney, Regina, Bras, Jose, Carrasquillo, Minerva, Guerreiro, Rita, Allen, Mariet, Chui, Helena, Fisher, Elizabeth, Masullo, Carlo, Crocco, Elizabeth, DeCarli, Charles, Bisceglio, Gina, Dick, Malcolm, Ma, Li, Duara, Ranjan, Graff-Radford, Neill, Evans, Denis, Hodges, Angela, Faber, Kelley, Scherer, Martin, Fallon, Kenneth, Riemenschneider, Matthias, Fardo, David, Heun, Reinhard, Farlow, Martin, Kölsch, Heike, Ferris, Steven, Leber, Markus, Foroud, Tatiana, Heuser, Isabella, Galasko, Douglas, Giegling, Ina, Gearing, Marla, Hüll, Michael, Geschwind, Daniel, Gilbert, John, Morris, John, Green, Robert, Mayo, Kevin, Growdon, John, Feulner, Thomas, Hamilton, Ronald, Harrell, Lindy, Drichel, Dmitriy, Honig, Lawrence, Cushion, Thomas, Huentelman, Matthew, Hollingworth, Paul, Hulette, Christine, Hyman, Bradley, Marshall, Rachel, Jarvik, Gail, Meggy, Alun, Abner, Erin, Menzies, Georgina, Jin, Lee-Way, Leonenko, Ganna, Real, Luis, Jun, Gyungah, Baldwin, Clinton, Grozeva, Detelina, Karydas, Anna, Russo, Giancarlo, Kaye, Jeffrey, Kim, Ronald, Jessen, Frank, Kowall, Neil, Vellas, Bruno, Kramer, Joel, Vardy, Emma, LaFerla, Frank, Jöckel, Karl-Heinz, Lah, James, Dichgans, Martin, Leverenz, James, Mann, David, Levey, Allan, Pickering-Brown, Stuart, Lieberman, Andrew, Klopp, Norman, Lunetta, Kathryn, Wichmann, H-Erich, Lyketsos, Constantine, Morgan, Kevin, Marson, Daniel, Brown, Kristelle, Martiniuk, Frank, Medway, Christopher, Mash, Deborah, Nöthen, Markus, Masliah, Eliezer, Hooper, Nigel, McCormick, Wayne, Daniele, Antonio, McCurry, Susan, Bayer, Anthony, McDavid, Andrew, Gallacher, John, McKee, Ann, Bussche, Hendrik, Mesulam, Marsel, Brayne, Carol, Miller, Bruce, Riedel-Heller, Steffi, Miller, Carol, Miller, Joshua, Al-Chalabi, Ammar, Morris, John, Shaw, Christopher, Myers, Amanda, Wiltfang, Jens, O’Bryant, Sid, Olichney, John, Alvarez, Victoria, Parisi, Joseph, Singleton, Andrew, Paulson, Henry, Collinge, John, Perry, William, Mead, Simon, Peskind, Elaine, Cribbs, David, Rossor, Martin, Pierce, Aimee, Ryan, Natalie, Poon, Wayne, Nacmias, Benedetta, Potter, Huntington, Sorbi, Sandro, Quinn, Joseph, Sacchinelli, Eleonora, Raj, Ashok, Spalletta, Gianfranco, Raskind, Murray, Caltagirone, Carlo, Bossù, Paola, Orfei, Maria, Reisberg, Barry, Clarke, Robert, Reitz, Christiane, Smith, A, Ringman, John, Warden, Donald, Roberson, Erik, Wilcock, Gordon, Rogaeva, Ekaterina, Bruni, Amalia, Rosen, Howard, Gallo, Maura, Rosenberg, Roger, Ben-Shlomo, Yoav, Sager, Mark, Mecocci, Patrizia, Saykin, Andrew, Pastor, Pau, Cuccaro, Michael, Vance, Jeffery, Schneider, Julie, Schneider, Lori, Slifer, Susan, Seeley, William, Smith, Amanda, Sonnen, Joshua, Spina, Salvatore, Stern, Robert, Swerdlow, Russell, Tang, Mitchell, Tanzi, Rudolph, Trojanowski, John, Troncoso, Juan, Deerlin, Vivianna, Eldik, Linda, Vinters, Harry, Vonsattel, Jean, Weintraub, Sandra, Welsh-Bohmer, Kathleen, Wilhelmsen, Kirk, Williamson, Jennifer, Wingo, Thomas, Woltjer, Randall, Wright, Clinton, Yu, Chang-En, Yu, Lei, Saba, Yasaman, Pilotto, Alberto, Bullido, Maria, Peters, Oliver, Crane, Paul, Bennett, David, Bosco, Paola, Coto, Eliecer, Boccardi, Virginia, Jager, Phil, Lleo, Alberto, Warner, Nick, Lopez, Oscar, Ingelsson, Martin, Deloukas, Panagiotis, Cruchaga, Carlos, Graff, Caroline, Gwilliam, Rhian, Fornage, Myriam, Goate, Alison, Sanchez-Juan, Pascual, Kehoe, Patrick, Amin, Najaf, Ertekin-Taner, Nilifur, Berr, Claudine, Debette, Stéphanie, Love, Seth, Launer, Lenore, Younkin, Steven, Dartigues, Jean-Francois, Corcoran, Chris, Ikram, M., Dickson, Dennis, Nicolas, Gael, Campion, Dominique, Tschanz, JoAnn, Schmidt, Helena, Hakonarson, Hakon, Clarimon, Jordi, Munger, Ron, Schmidt, Reinhold, Farrer, Lindsay, Broeckhoven, Christine, O’Donovan, Michael, DeStefano, Anita, Jones, Lesley, Haines, Jonathan, Deleuze, Jean-Francois, Owen, Michael, Gudnason, Vilmundur, Mayeux, Richard, Escott-Price, Valentina, Psaty, Bruce, Ramirez, Alfredo, Wang, Li-San, Ruiz, Agustin, Duijn, Cornelia, Holmans, Peter, Seshadri, Sudha, Williams, Julie, Amouyel, Phillippe, Schellenberg, Gerard, Lambert, Jean-Charles, and Pericak-Vance, Margaret

Abstract

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Published
2019
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25. 17β-Estradiol exerts a beneficial effect on coronary vascular remodeling in the early stages of hypertension in spontaneously hypertensive rats

Author

Garcia, Paz M, Giménez, Jose, Bonacasa, Barbara, Carbonell, Luis F, Miguel, Salom G, Quesada, Tomas, and Hernández, Isabel

Abstract

Estrogens may induce cardioprotective effects and prevent neointima formation in response to vascular injury in vivo. The present study evaluated the effect of 17β-estradiol on myocardial arterial remodeling and on vascular mitogen-activated protein kinase expression in experimental hypertension.

Published
2005
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26. Nosocomial Pediatric Bacteremia: The Role of Intravenous Set Contamination in Developing Countries

Author

Macías, Alejandro E., Muñoz, Juan M., Herrera, Laura E., Medina, Humberto, Hernández, Isabel, Alcántar, Dolores, and Ponce de León, Samuel

Abstract

AbstractObjective:To assess the rate of bacterial contamination of intravenous administration sets at their rubber injection ports and matching infusates.Design:Cultures of injection ports and infusate during 26 visits to 4 hospitals.Setting:Four public general pediatric hospitals in Mexico City with substandard care practices.Patients:Hospitalized pediatric patients receiving intravenous solutions.Results:Overall, 176 of 251 injection ports were contaminated (70.1%; 95% confidence interval [CI95], 64.5% to 75.8%), 35 (13.9%; CI95, 9.7% to 18.2%) with gram-negative rods, primarily of the tribe Klebsielleae. Cultures of infusates were positive in 17 cases (6.8%, CI95, 3.7% to 9.9%), 5 of which grew gram-negative rods (2%; CI95, 0.6% to 4.6%). In 3 cases (1.2%), the same species with gram-negative rods was found in the infusates and on the injection ports. During one visit, 8 clustered cases of injection port contamination with a clonal Enterobacter cloacaewere found; this agent was also found in the blood culture, intravenous fluid, and parenteral nutrition of one patient. Inadequate chlorination of tap water, a potential risk factor, was recorded during 22 visits (84.6%).Conclusion:These data suggest that external contamination of the intravenous administration set could play a role in infusate contamination.

Published
2004
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27. Nosocomial Pediatric Bacteremia: The Role of Intravenous Set Contamination in Developing Countries

Author

Macías, Alejandro E., Muñoz, Juan M., Herrera, Laura E., Medina, Humberto, Hernández, Isabel, Alcántar, Dolores, and Ponce de León, Samuel

Abstract

AbstractObjective:To assess the rate of bacterial contamination of intravenous administration sets at their rubber injection ports and matching infusates.Design:Cultures of injection ports and infusate during 26 visits to 4 hospitals.Setting:Four public general pediatric hospitals in Mexico City with substandard care practices.Patients:Hospitalized pediatric patients receiving intravenous solutions.Results:Overall, 176 of 251 injection ports were contaminated (70.1%; 95% confidence interval [CI95], 64.5% to 75.8%), 35 (13.9%; CI95, 9.7% to 18.2%) with gram-negative rods, primarily of the tribe Klebsielleae. Cultures of infusates were positive in 17 cases (6.8%, CI95, 3.7% to 9.9%), 5 of which grew gram-negative rods (2%; CI95, 0.6% to 4.6%). In 3 cases (1.2%), the same species with gram-negative rods was found in the infusates and on the injection ports. During one visit, 8 clustered cases of injection port contamination with a clonal Enterobacter cloacaewere found; this agent was also found in the blood culture, intravenous fluid, and parenteral nutrition of one patient. Inadequate chlorination of tap water, a potential risk factor, was recorded during 22 visits (84.6%).Conclusion:These data suggest that external contamination of the intravenous administration set could play a role in infusate contamination.

Published
2004
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28. Epidemiological survey of histoplasmine and paracoccidioidine skin reactivity in an agricultural area in Bolívar state, Venezuela

Author

Cermeño, Julman, Hernández, Isabel, Cermeño, Julmery, Godoy, Gerardo, Cermeño, July, Orellán, Yida, Blanco, Ytalia, Cabello, Ismery, Guzmán, Yesenia, Alcalá, Frannelly, García, Teófilo, and Penna, Salvador

Abstract

Paracoccidiodomycosis and histoplasmosis are endemic diseases in the south of Venezuela, representing a public health problem. Prevalence of Paracoccidiodes brasiliensisand Histoplasma capsulatuminfections were estimated in Monte Ralo, a rural community area of Bolívar state using paracoccidiodine and histoplasmine skin tests. Paracoccidiodine was intradermically injected to 173 persons and readings were made at 24 and 48 h afterwards to 167 persons (97.85%). Reaction was positive in 8.5% (n = 14) at 24 h post-injection and 13.2% (n = 20) at 48 h. Farmers showed the higher percentage of positivity at 24 and 48 h. One hundred-seventy five persons were intradermically injected with histoplasmine but 167 and 157 of them attended for reading of the dermal reaction at 24 and 48 h post-injection respectively. Tests were positive in 25.7% (n = 43) at 24 h and 42.7% (n = 67) at 48 h. Further studies are needed in surrounding places to delimit the endemic area of these mycosis in the Bolívar state. However, epidemiological vigilance of PCM and H should be considered by local health authorities.

Published
2004
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30. Abstract P94: Stroke Etiologies in Patients With Covid-19: The Svin Covid-19 Multinational Registry

Author

Ramos-Araque, Maria Esther, Siegler, James E, Ribo, Marc, Requena, Manuel, López, Cristina, de Lera, Mercedes, Arenillas, Juan F, Pérez-Hernández, Isabel, Beatriz, Gómez-Vicente, Talavera, Blanca, Cardona, Pedro, Guillén, Ana, Urra, Xabier, Lull, Laura, Renu, Arturo, Nguyen, Thanh, Jillella, Dinesh, Nahab, Fadi B, Nogueira, Raul G, Haussen, Diogo C, Then, Ryna, Thon, Jesse M, Rodriguez Esparragoza, Luis, Hernández-Pérez, Maria, Bustamante, Alejandro, Mansour, Ossama, Mohammed, Megahed, Hassan, Tamer, Liebeskind, David S, Hassan, Ameer E, Bushnaq, Saif, Osman, Mohamed, and Rodriguez Vazquez, Alejandro

Abstract

Background and purpose:Coronavirus disease 2019 (COVID-19) is associated with a small but clinically significant risk of stroke, the cause of which is frequently cryptogenic. In a large multinational cohort of consecutive COVID-19 patients with stroke, we evaluated clinical predictors of cryptogenic stroke, short-term functional outcomes and in-hospital mortality among patients according to stroke etiology.Methods:We explored clinical characteristics and short-term outcomes of consecutively evaluated patients 18 years of age or older with acute ischemic stroke (AIS) and laboratory-confirmed COVID-19 from 31 hospitals in 4 countries (3/1/20-6/16/20).Results:Of the 14.483 laboratory-confirmed patients with COVID-19, 156 (1.1%) were diagnosed with AIS. Sixty-one (39.4%) were female, 84 (67.2%) white, and 88 (61.5%) were between 60-79 years of age. The most frequently reported etiology of AIS was cryptogenic (55/129, 42.6%), which was associated with significantly higher white blood cell count, c-reactive protein, and D-dimer levels than non-cryptogenic AIS patients (p

Published
2021
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33. An integration-free iPSC line, ICCSICi007-A, derived from a female Alzheimer's disease patient with the APOE-ε4/ε4 alleles.

Author

Díaz-Guerra, Eva, Rodríguez-Traver, Eva, Moreno-Jiménez, Elena P., de Rojas, Itziar, Rodríguez, César, Orera, María, Hernández, Isabel, Ruiz, Agustín, and Vicario, Carlos

Abstract

The epsilon4 (ε4) allele of the APOE gene, which encodes the apolipoprotein E4 (ApoE4), is the strongest genetic risk factor known for late-onset Alzheimer´s disease (LOAD). Here, we present the characterization of an iPSC line generated from dermal fibroblasts of a female AD patient using Sendai viral vectors encoding the transcription factors OCT4, SOX2, KLF4 and c-MYC. The iPSCs maintained the original genotype, a normal karyotype, were free from Sendai viral vectors and reprogramming factors, presented a normal morphology, expressed endogenous pluripotency markers, and could be differentiated into ectodermal, mesodermal and endodermal cells, confirming its pluripotency. [ABSTRACT FROM AUTHOR]

Published
2019
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34. A collection of four integration-free iPSC lines derived from diagnosed sporadic Alzheimer's disease patients with different APOE alleles.

Author

Díaz-Guerra, Eva, Moreno-Jiménez, Elena P., de Rojas, Itziar, Rodríguez, César, Rodríguez-Traver, Eva, Arribas-González, Esther, Orera, María, Hernández, Isabel, Ruiz, Agustín, and Vicario, Carlos

Abstract

Genetic polymorphism of apolipoprotein E (APOE) confers differential susceptibility to late-onset Alzheimer's disease (LOAD). The ε3 allele of APOE , the most common isoform, does not represent a risk factor for LOAD. In contrast, the ε4 allele is the strongest genetic risk factor for this disease. Here, we present the characterization of four iPSC lines generated from dermal fibroblasts of diagnosed sporadic AD patients using Sendai viral vectors encoding OCT4, SOX2, KLF4 and c-MYC. The iPSCs expressed endogenous pluripotency markers, could be differentiated into the three germ layers, maintained the original genotypes, and were free from Sendai vectors and reprogramming factors. [ABSTRACT FROM AUTHOR]

Published
2019
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43. Genetic association of complement receptor 1 polymorphism rs3818361 in Alzheimer’s disease.

Author

Antúnez, Carmen, Boada, Mercè, López-Arrieta, Jesús, Moreno-Rey, Concha, Hernández, Isabel, Marín, Juan, Gayán, Javier, González-Pérez, Antonio, Real, Luis M., Alegret, Montserrat, Tárraga, Lluis, Ramírez-Lorca, Reposo, and Ruiz, Agustín

Subjects
GENETICS of Alzheimer's disease, COMPLEMENT (Immunology), GENETIC polymorphisms, META-analysis, MOLECULAR genetics, GENETICS of disease susceptibility
Abstract

Abstract: Complement receptor 1 gene polymorphism rs3818361 was recently shown to increase the risk of Alzheimer’s disease (AD). We performed an independent replication study of this genetic variant in 2470 individuals from Spain. By applying an allelic model, we observed a trend toward an association between this marker and late-onset AD susceptibility in our case–control study (odds ratio = 1.114, 95% confidence interval: 0.958–1.296, P = .16). Meta-analysis of available studies (n = 31,771 individuals), including previous studies and public genome-wide association study resources (Alzheimer’s Disease Neuroimaging Initiative, Translational Genomics Research Institute, and Multi-site Collaborative Study for Genotype-Phenotype Associations in Alzheimer''s Disease), strongly supports the effect of rs3818361 (odds ratio = 1.180, 95% confidence interval: 1.113–1.252, P < 2.99E-8) and suggests the existence of between-study heterogeneity (P < .05). We concluded that the complement receptor 1 gene may contribute to AD risk, although its effect size could be smaller than previously estimated. [Copyright &y& Elsevier]

Published
2011
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46. Molecular analysis of GOLPH2 gene SNPs in Alzheimer's disease.

Author

Antúnez, Carmen, Boada, Merçe, Arrieta, J. López-, Hernández, Isabel, Lage, Pablo Martínez, Mauleón, A., Rosende-Roca, R., Echavarri, C., Alegret, M., Ramírez-Lorca, R., Moreno, C., Morón, F.J., Marín, Juan, Tárraga, Luis, Real, L.M., González-Pérez, A., Galan, J.J., and Ruiz, Agustin

Published
2009
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