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1. Mutational spectrum and genotype–phenotype correlation in Mexican patients with infantile‐onset and late‐onset Pompe disease

Author

Valentina Martinez‐Montoya, Luz María Sánchez‐Sánchez, Roberto Sandoval‐Pacheco, Diana Mónica Anaya Castro, Carmen Araceli Arellano‐Valdez, Carmen Amor Ávila‐Rejón, Pedro Alejandro Aguilar‐Juárez, Martín Espino‐Pluma, Cruz Antonio González‐Santillanes, Rosa Isela Martínez‐Segovia, Dorian Olmos‐Morfin, Ofelia Padilla‐De laTorre, Ishar Solís‐Sánchez, Mónica Vázquez‐Del Mercado Espinosa, Camilo Ernesto Villarroel‐Cortés, Jesús Salvador Velarde‐Félix, Jaime López‐Valdez, Julio Olaiz‐Urbina, Edgar Ricárdez‐Marcial, Imelda Vergara‐Sánchez, Pablo Radillo‐Díaz, Ekaterina Kazakova, Beatriz De la Fuente‐Cortez, Luz delCarmen Marquez‐Quiróz, Benjamín Torres‐Octavo, and Rubicel Diaz‐Martinez

Subjects
acid alpha‐glucosidase, GAA gene, metabolic myopathy, phenotype–genotype correlation, Pompe disease, pseudodeficiency allele, Genetics, QH426-470
Abstract

Abstract Background Pompe Disease (PD) is a metabolic myopathy caused by variants in the GAA gene, resulting in deficient enzymatic activity. We aimed to characterize the clinical features and related genetic variants in a series of Mexican patients. Methods We performed a retrospective study of clinical records of patients diagnosed with LOPD, IOPD or pseudodeficiency. Results Twenty‐nine patients were included in the study, comprising these three forms. Overall, age of symptom onset was 0.1 to 43 years old. The most frequent variant identified was c.‐32‐13T>G, which was detected in 14 alleles. Among the 23 different variants identified in the GAA gene, 14 were classified as pathogenic, 5 were likely pathogenic, and 1 was a variant of uncertain significance. Two variants were inherited in cis arrangement and 2 were pseudodeficiency‐related benign alleles. We identified two novel variants (c.1615 G>A and c.1076‐20_1076‐4delAAGTCGGCGTTGGCCTG). Conclusion To the best of our knowledge, this series represent the largest phenotypic and genotypic characterization of patients with PD in Mexico. Patients within our series exhibited a combination of LOPD and IOPD associated variants, which may be related to genetic diversity within Mexican population. Further population‐wide studies are required to better characterize the incidence of this disease in Mexican population.

Published
2024
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6. A dynamical version of the SYK Model and the q-Brownian Motion

Author

Pluma, Miguel and Speicher, Roland

Subjects
Mathematics - Operator Algebras, Mathematical Physics, Mathematics - Probability, 46L54, 15B52, 60E05
Abstract

We extend recent results on the asymptotic eigenvalue distribution of the SYK model to the multivariate case and relate the limit of a dynamical version of the SYK model with the q-Brownian motion, a non-commutative deformation of classical Brownian motion. Furthermore, we extend the results for fluctuations to the multivariate setting and treat also higher correlation functions. The structure of our results for the sparse SYK random matrices resembles the formulas for higher order freeness for ordinary GUE random matrices., Comment: we provide more details in some proofs to close some gaps from the previous version; a new figure is added in order to address possible relation with "higher order freeness"

Published
2019

13. Analysis and Improved Behavior of a Single-Phase Transformerless PV Inverter

Author

Panfilo R. Martinez-Rodriguez, Gerardo Vazquez-Guzman, Gerardo O. Perez-Bustos, Jose M. Sosa-Zuñiga, Dalyndha Aztatzi-Pluma, Adolfo R. Lopez-Nuñez, and Christopher J. Rodriguez-Cortes

Subjects
HERIC inverter, leakage ground current, passive filter, photovoltaic, transformerless, Mechanical engineering and machinery, TJ1-1570
Abstract

Transformerless inverters have an important role in the electrical energy market. The high-efficiency and reliable inverter concept is one of the most widely used inverters in single-phase photovoltaic systems because of its high efficiency, low cost, and reduced leakage ground current. However, the leakage ground current behavior depends on the power and weather conditions, which can increase the parasitic capacitance value, thus producing an increase in the leakage ground current magnitude. In this paper, it is proposed to add a passive inductive–capacitive output filter to the inverter structure in order to reduce the dependency of the leakage ground current on the system power and weather conditions. The inductive–capacitive output filter is designed in such a way that it can provide a low impedance path for the leakage ground current, different from the ground path. The proposed system was evaluated both through simulations and experimentally in a 1 kW laboratory prototype.

Published
2023
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14. A generalized numerical model for clonal growth in scleractinian coral colonies.

Author

Llabrés, Eva, Re, Eleonora, Pluma, Naira, Sintes, Tomàs, and Duarte, Carlos M.

Subjects
CORAL colonies, MARINE biology, SCLERACTINIA, CORAL reefs & islands, ACROPORA, CORAL reef restoration, CORAL reef conservation
Abstract

Coral reefs, vital ecosystems supporting diverse marine life, are primarily shaped by the clonal expansion of coral colonies. Although the principles of coral clonal growth, involving polyp division for spatial extension, are well-understood, numerical modelling efforts are notably scarce in the literature. In this article, we present a parsimonious numerical model based on the cloning of polyps, using five key parameters to simulate a range of coral shapes. The model is agent-based, where each polyp represents an individual. The colony's surface expansion is dictated by the growth mode parameter (s), guiding the preferred growth direction. Varying s facilitates the emulation of diverse coral shapes, including massive, branching, cauliflower, columnar and tabular colonies. Additionally, we introduce a novel approach for self-regulatory branching, inspired by the intricate mesh-like canal system and internode regularity observed in Acropora species. Through a comprehensive sensitivity analysis, we demonstrate the robustness of our model, paving the way for future applications that incorporate environmental factors, such as light and water flow. Coral colonies are known for their high plasticity, and understanding how individual polyps interact with each other and their surroundings to create the reef structure has been a longstanding question in the field. This model offers a powerful framework for studying these interactions, enabling a future implementation of environmental factors and the possibility of identifying the key mechanisms influencing coral colonies' morphogenesis. [ABSTRACT FROM AUTHOR]

Published
2024
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15. Mutational spectrum and genotype–phenotype correlation in Mexican patients with infantile‐onset and late‐onset Pompe disease.

Author

Martinez‐Montoya, Valentina, Sánchez‐Sánchez, Luz María, Sandoval‐Pacheco, Roberto, Castro, Diana Mónica Anaya, Arellano‐Valdez, Carmen Araceli, Ávila‐Rejón, Carmen Amor, Aguilar‐Juárez, Pedro Alejandro, Espino‐Pluma, Martín, González‐Santillanes, Cruz Antonio, Martínez‐Segovia, Rosa Isela, Olmos‐Morfin, Dorian, la Torre, Ofelia Padilla‐De, Solís‐Sánchez, Ishar, Espinosa, Mónica Vázquez‐Del Mercado, Villarroel‐Cortés, Camilo Ernesto, Velarde‐Félix, Jesús Salvador, López‐Valdez, Jaime, Olaiz‐Urbina, Julio, Ricárdez‐Marcial, Edgar, and Vergara‐Sánchez, Imelda

Subjects
GLYCOGEN storage disease type II, MEXICANS, GENETIC variation, GENOTYPES, MEDICAL records
Abstract

Background: Pompe Disease (PD) is a metabolic myopathy caused by variants in the GAA gene, resulting in deficient enzymatic activity. We aimed to characterize the clinical features and related genetic variants in a series of Mexican patients. Methods: We performed a retrospective study of clinical records of patients diagnosed with LOPD, IOPD or pseudodeficiency. Results: Twenty‐nine patients were included in the study, comprising these three forms. Overall, age of symptom onset was 0.1 to 43 years old. The most frequent variant identified was c.‐32‐13T>G, which was detected in 14 alleles. Among the 23 different variants identified in the GAA gene, 14 were classified as pathogenic, 5 were likely pathogenic, and 1 was a variant of uncertain significance. Two variants were inherited in cis arrangement and 2 were pseudodeficiency‐related benign alleles. We identified two novel variants (c.1615 G>A and c.1076‐20_1076‐4delAAGTCGGCGTTGGCCTG). Conclusion: To the best of our knowledge, this series represent the largest phenotypic and genotypic characterization of patients with PD in Mexico. Patients within our series exhibited a combination of LOPD and IOPD associated variants, which may be related to genetic diversity within Mexican population. Further population‐wide studies are required to better characterize the incidence of this disease in Mexican population. [ABSTRACT FROM AUTHOR]

Published
2024
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18. Genetic association between CD96 locus and immunogenicity to anti-TNF therapy in Crohn’s disease

Author

Aterido, Adrià, Palau, Núria, Domènech, Eugeni, Nos Mateu, Pilar, Gutiérrez, Ana, Gomollón, Fernando, Mendoza, Juan L., Garcia-Planella, Esther, Barreiro-de Acosta, Manuel, Muñoz, Fernando, Vera, Maribel, Saro, Cristina, Esteve, Maria, Andreu, Montserrat, Chaparro, María, Panés, Julián, García-Sánchez, Valle, López-Lasanta, María, Pluma, Andrea, Codó, Laia, García-Montero, Andrés, Manyé, Josep, Gisbert, Javier P., Marsal, Sara, and Julià, Antonio

Published
2019
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20. La importancia comercial de los musgos en el estado de Tlaxcala, Mexico/Commercial importance of mosses in Tlaxcala state, Mexico

Author

Pluma, Oscar Acatitla, Carrera, Cora Villamil, and Pérez, José Luis Martínez y

Subjects
Forest products industry
Abstract

Los musgps son un recurso forestal no maderable de importancia económica en el centro de México durante la temporada navideña. Sin embargo, en el estado de Tlaxcala no existe información del origen, la cantidad recolectada y las especies con importancia comercial durante esta época. Por tal motivo, se analizó la información de los permisos para explotación comercial del 2005 al 2008 de la Secretaría de Medioambiente y Recursos Naturales-Tlaxcala y se seleccionaron cuatro predios para ser visitados y recolectar musgos en tres cuadrantes de 20 cm * 20 cm, además, se adquirieron tres muestras de musgos en los mercados de las principales ciudades del estado de Tlaxcala para complementar la información. La superficie y el peso fresco fueron calculados solo con las muestras de los mercados y los datos se extrapolaron a los permisos oficiales. La región de Tlaxco presenta la mayor cantidad de permisos de explotación comercial y en general, la superficie declarada para explotación comercial varía de 10 ha a 167 ha y el peso fresco de 10 t a 65 t. El precio de las muestras en los mercados es de 22 MXN/[m.sup.2] a 52 MXN/[m.sup.2] con peso fresco calculado de 15.89 MXN/kg a 64.10 MXN/kg. El valor comercial aproximado es de 372 500 MXN/ha y 40 000 MXN/t. Revisando los datos de los permisos se determinó que hay una capacidad de extracción anual de 1.63 t/ha. Se identificaron un total de 14 especies, observando que Thuidium delicatulum subsp. delicatulum se encuentra presente en campo y en el mercado, pero Hypnum amabile solo se observó en los mercados. PALABRAS CLAVE: briofitas, especies, bosques, mercados, venta. Mosses represent a non-timber forest resource with economic importance in Central Mexico during Christmas season. Some places and species have been studied but in Tlaxcala state there is no information about the origin, quantity harvested, and species with commercial importance in this season. For this reason, licenses for commercial harvest for the years 2005 to 2008 from Secretaría de Medioambiente y Recursos Naturales-Tlaxcala were reviewed, and four farms were visited to recollect mosses on three 20 cm * 20 cm samples, and three samples were purchased in local markets of the main cities in Tlaxcala state for complementary information. Surface area and fresh weight were calculated only with market samples and compared with commercial licenses. The Tlaxco region had most of the licenses, and in general the declared area for commercial harvesting is from 10 ha to 167 ha and the fresh weight is from 10 t to 65 t. The commercial value of the samples in the markets for the size is from 22 MXN/[m.sup.2] to 52 MXN/[m.sup.2] and for the calculated fresh weight is of 15.89 MXN/kg to 64.10 MXN/kg, with a commercial value calculated of 372 500 MXN/ha, 40 000 MXN/t; from the harvesting licenses, ot was determined that there is an annual extraction capacity of 1.63 t/ha. From the samples recollected in the field and the markets a total of 14 species has been identified, detecting that Thuidium delicatulum subsp. delicatulum is common in all samples, but Hypnum amabile is present only in the samples from the markets. KEYWORDS: bryophyta, species, forests, markets, sale., INTRODUCCIÓN Los musgos se encuentran clasificados en el grupo Briófita junto con las Hepáticas y Antoceros, este grupo es considerado como monofilético y representa a las primeras plantas terrestres morfológicamente [...]

Published
2020
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22. Hybrid PWM Techniques for a DCM-232 Three-Phase Transformerless Inverter with Reduced Leakage Ground Current

Author

Gerardo Vazquez-Guzman, Panfilo R. Martinez-Rodriguez, Jose M. Sosa-Zuñiga, Dalyndha Aztatzi-Pluma, Diego Langarica-Cordoba, Belem Saldivar, and Rigoberto Martínez-Méndez

Subjects
PV generation, space vector modulation, transformerless inverters, grid connection, leakage ground current, Mechanical engineering and machinery, TJ1-1570
Abstract

Pulse Width Modulation (PWM) strategies are crucial for controlling DC–AC power converters. In particular, transformerless inverters require specific PWM techniques to improve efficiency and to deal with leakage ground current issues. In this paper, three hybrid PWM methods are proposed for a DCM-232 three-phase topology. These methods are based on the concepts of carrier-based PWM and space vector modulation. Calculations of time intervals for active and null vectors are performed in a conventional way, and the resulting waveforms are compared with a carrier signal. The digital signals obtained are processed using Boolean functions, generating ten signals to control the DCM-232 three-phase inverter. The performance of the three proposed PWM methods is evaluated considering the reduction in leakage ground current and efficiency. The proposed modulation techniques have relevant performances complying with international standards, which make them suitable for transformerless three-phase photovoltaic (PV) inverter markets. To validate the proposed hybrid PWM strategies, numerical simulations and experimental tests were performed.

Published
2021
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24. Will they automatically work together? Cooperation Among Non-Fools in Hobbes's Leviathan.

Author

Pluma, Karim

Subjects
*COOPERATION, *WAR games, *GAME theory, *ANARCHISM
Abstract

Thomas Hobbes's State of War is commonly imagined as a harrowing condition where hostile interactions are the rule and non-hostile encounters are the rare exception. However, while it is generally true that Hobbes purposely outlined his famed condition of anarchy as a condition of perennial conflict, it is also equally true that cooperative behavior was not uncommon. In fact, by only taking into account cooperative behavior, as presented in Leviathan, the anarchic humans leave the absolute uncertainties of the State of War and create the Commonwealth for their safety and well-being. Over the past fifty years or so, several exits from the State of War via game theory have been proposed in the literature, with mixed results. Most (if not all) solutions consider the likelihood of betrayal, usually through the figure of the Fool. This is a valid approach since the condition of anarchy can be imagined as being rife with dishonesty. However, the issue of non-Fools - as far as the players willful cooperation and the ultimate responsibility for the creation of government is concerned, has not been addressed yet. [ABSTRACT FROM AUTHOR]

Published
2024
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25. AB0332 APPLICATION IN CLINICAL PRACTICE OF THE SCREENING CRITERIA FOR INTERSTITIAL LUNG DISEASE IN RHEUMATOID ARTHRITIS PROPOSED BY SER-SEPAR IN A COHORT OF RHEUMATOID ARTHRITIS. PRELIMINARY STUDY

Author

Borrell Paños, H., primary, Trallero Araguas, E., additional, Michelena, X., additional, Pluma Sanjurjo, A., additional, Coronel Tarancon, L., additional, Clofent Alarcon, D. V., additional, Avalos Bogado, H. F., additional, Marsal, S., additional, and Lopez Lasanta, M., additional

Published
2023
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27. Estableciendo 'puentes' entre la Universidad y el tejido social madrileño : cómo los estudiantes de la Asignatura Ciudad y Urbanismo pueden colaborar en la búsqueda de soluciones urbanísticas a históricas reclamaciones vecinales en el entorno de Puente de Vallecas

Author

Tamayo Palacios, Alejandro, Álvarez de Andrés, Eva, Carpio Pinedo, José, Camerin, Federico, Galindo Mateos, Javier, Infante Marín, Pablo, Soria Martinez, Pablo, Guisasola Tellechea, Telmo, Alfageme Ferreiro, María, Irías Pinilla, Irene, Rong Jin, Rong, Serrano Gómez, Inmaculada, Bayón García, María, Barro López, Andrea, González Barquero, Ainhoa, Muñoz Acosta, Lucía, Dimitrova, Vésela, Prieto Ruiz-Gálvez, Sofía, Gómez, Álvaro, López Rodrigo, Paula, Faulenbach, Valentina, Akkouche El Ghadban, Aline, Polo Calero, Rocío, Arriba Cerro, Nerea de, Martín Delgado, Alejandra, López Alcántara, Eduardo, Prieto Alonso-Jaúdenes, Loreto, Fernández Pascual, Pilar, González Quiñones, Benito, Yániz Antolín, Celia, Martín Gil, Julio, Calderón García, Lucía, Conchillo Rojo, Elena, Álamo Parra, Hugo, Fidalgo Herrera, Mª Cristina, Luzuriaga Azqueta, Pablo, López Alsina, Mª del Carmen, González Botas Domínguez, Manuel, Gómez Calleja, Cecilia, Sancho de la Jordana Dameto, Carmen, Casado Martín, Lucía, Valle del Valle, Ángela del, Jurado Roldán, Victoria, Pintado Delgado, Nerea, Lara Luengo, Conchita, Silles González, Alfredo, Andrés Prieto Cuadros, Mateo, Arellano Cariga, Ann, Pechtold, Georg, Lagreé, Clémentine, Municio, Alba, Boszke, Aleksandra, Andrés Klemetz, Elsa, Ríus Vaquerizas, Sofía, Fernández Romero, Pablo, Pluma Rodríguez, Francisco, Aguirre Castanedo, Marta, Martínez Riaza, Paula, Abdo Trincado, Lucía, Cabrera Martín, Silvia, Latorre del Río, Paloma, Madero Riera, Gloria, Rey Simón, Anabel del, Zaripova, Sofía, Sastre Villamiel, Marcos, Martín Cerezo, Agustín, Amo Regidor, Mayra del, Jiménez lopez, Lucía, Manso Tejerina, César, Souviron López-Pinto, Juan, Alvira, Anayet, Guarachi, Bernicie, Huerta, Alba, Ortega Rodríguez, Claudia, Capatici Bandac, Igor, Marín Rabadán, Daniel, Tamayo Palacios, Alejandro, Álvarez de Andrés, Eva, Carpio Pinedo, José, Camerin, Federico, Galindo Mateos, Javier, Infante Marín, Pablo, Soria Martinez, Pablo, Guisasola Tellechea, Telmo, Alfageme Ferreiro, María, Irías Pinilla, Irene, Rong Jin, Rong, Serrano Gómez, Inmaculada, Bayón García, María, Barro López, Andrea, González Barquero, Ainhoa, Muñoz Acosta, Lucía, Dimitrova, Vésela, Prieto Ruiz-Gálvez, Sofía, Gómez, Álvaro, López Rodrigo, Paula, Faulenbach, Valentina, Akkouche El Ghadban, Aline, Polo Calero, Rocío, Arriba Cerro, Nerea de, Martín Delgado, Alejandra, López Alcántara, Eduardo, Prieto Alonso-Jaúdenes, Loreto, Fernández Pascual, Pilar, González Quiñones, Benito, Yániz Antolín, Celia, Martín Gil, Julio, Calderón García, Lucía, Conchillo Rojo, Elena, Álamo Parra, Hugo, Fidalgo Herrera, Mª Cristina, Luzuriaga Azqueta, Pablo, López Alsina, Mª del Carmen, González Botas Domínguez, Manuel, Gómez Calleja, Cecilia, Sancho de la Jordana Dameto, Carmen, Casado Martín, Lucía, Valle del Valle, Ángela del, Jurado Roldán, Victoria, Pintado Delgado, Nerea, Lara Luengo, Conchita, Silles González, Alfredo, Andrés Prieto Cuadros, Mateo, Arellano Cariga, Ann, Pechtold, Georg, Lagreé, Clémentine, Municio, Alba, Boszke, Aleksandra, Andrés Klemetz, Elsa, Ríus Vaquerizas, Sofía, Fernández Romero, Pablo, Pluma Rodríguez, Francisco, Aguirre Castanedo, Marta, Martínez Riaza, Paula, Abdo Trincado, Lucía, Cabrera Martín, Silvia, Latorre del Río, Paloma, Madero Riera, Gloria, Rey Simón, Anabel del, Zaripova, Sofía, Sastre Villamiel, Marcos, Martín Cerezo, Agustín, Amo Regidor, Mayra del, Jiménez lopez, Lucía, Manso Tejerina, César, Souviron López-Pinto, Juan, Alvira, Anayet, Guarachi, Bernicie, Huerta, Alba, Ortega Rodríguez, Claudia, Capatici Bandac, Igor, and Marín Rabadán, Daniel

Abstract

Publicación de los trabajos elaborados por los estudiantes del curso 2022/23 de la asignatura Ciudad y Urbanismo (35001304) de la Escuela Técnica Superior de Arquitectura de la Universidad Politécnica de Madrid en el marco de un proyecto de Aprendizaje-Servicio y reflexiones sobre el proceso tanto de los agentes sociales que formaron parte del mismo, como de los profesores que ha participado en la docencia.

Published
2023

28. Expected impact of immunomodulatory agents during pregnancy: A newborn's perspective

Author

Luo, Yiyi, primary, Acevedo, Daniel, additional, Baños, Núria, additional, Pluma, Andrea, additional, Castellanos‐Moreira, Raúl, additional, Moreno, Estefania, additional, Rodríguez‐García, Sebastian, additional, Deyà‐Martínez, Angela, additional, García‐García, Ana, additional, Quesada‐Masachs, Estefania, additional, Torres, Mireia, additional, Casellas, Manel, additional, Grados, Dolors, additional, Martí‐Castellote, Celia, additional, Antón, Jordi, additional, Vlagea, Alexandru, additional, Juan, Manel, additional, Esteve‐Solé, Ana, additional, and Alsina, Laia, additional

Published
2023
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29. Estableciendo "puentes" entre la Universidad y el tejido social madrileño : cómo los estudiantes de la Asignatura Ciudad y Urbanismo pueden colaborar en la búsqueda de soluciones urbanísticas a históricas reclamaciones vecinales en el entorno de Puente de Vallecas

Author

Tamayo Palacios, Alejandro, primary, Álvarez de Andrés, Eva, primary, Carpio Pinedo, José, primary, Camerin, Federico, primary, Galindo Mateos, Javier, primary, Infante Marín, Pablo, primary, Soria Martinez, Pablo, primary, Guisasola Tellechea, Telmo, primary, Alfageme Ferreiro, María, primary, Irías Pinilla, Irene, primary, Rong Jin, Rong, primary, Serrano Gómez, Inmaculada, primary, Bayón García, María, primary, Barro López, Andrea, primary, González Barquero, Ainhoa, primary, Muñoz Acosta, Lucía, primary, Dimitrova, Vésela, primary, Prieto Ruiz-Gálvez, Sofía, primary, Gómez, Álvaro, primary, López Rodrigo, Paula, primary, Faulenbach, Valentina, primary, Akkouche El Ghadban, Aline, primary, Polo Calero, Rocío, primary, Arriba Cerro, Nerea de, primary, Martín Delgado, Alejandra, primary, López Alcántara, Eduardo, primary, Prieto Alonso-Jaúdenes, Loreto, primary, Fernández Pascual, Pilar, primary, González Quiñones, Benito, primary, Yániz Antolín, Celia, primary, Martín Gil, Julio, primary, Calderón García, Lucía, primary, Conchillo Rojo, Elena, primary, Álamo Parra, Hugo, primary, Fidalgo Herrera, Mª Cristina, primary, Luzuriaga Azqueta, Pablo, primary, López Alsina, Mª del Carmen, primary, González Botas Domínguez, Manuel, primary, Gómez Calleja, Cecilia, primary, Sancho de la Jordana Dameto, Carmen, primary, Casado Martín, Lucía, primary, Valle del Valle, Ángela del, primary, Jurado Roldán, Victoria, primary, Pintado Delgado, Nerea, primary, Lara Luengo, Conchita, primary, Silles González, Alfredo, primary, Andrés Prieto Cuadros, Mateo, primary, Arellano Cariga, Ann, primary, Pechtold, Georg, primary, Lagreé, Clémentine, primary, Municio, Alba, primary, Boszke, Aleksandra, primary, Andrés Klemetz, Elsa, primary, Ríus Vaquerizas, Sofía, primary, Fernández Romero, Pablo, primary, Pluma Rodríguez, Francisco, primary, Aguirre Castanedo, Marta, primary, Martínez Riaza, Paula, primary, Abdo Trincado, Lucía, primary, Cabrera Martín, Silvia, primary, Latorre del Río, Paloma, primary, Madero Riera, Gloria, primary, Rey Simón, Anabel del, primary, Zaripova, Sofía, primary, Sastre Villamiel, Marcos, primary, Martín Cerezo, Agustín, primary, Amo Regidor, Mayra del, primary, Jiménez lopez, Lucía, primary, Manso Tejerina, César, primary, Souviron López-Pinto, Juan, primary, Alvira, Anayet, primary, Guarachi, Bernicie, primary, Huerta, Alba, primary, Ortega Rodríguez, Claudia, primary, Capatici Bandac, Igor, primary, and Marín Rabadán, Daniel, primary

Published
2023
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30. Resignificación de nuestra historia docente

Author

Hernández Lozano, Mishell, additional, García Chanes, Valeria, additional, Ortiz Ortiz, Blanca Yocelin, additional, Ramos Romero, Guadalupe, additional, Meza Lázaro, Yasmin, additional, Flores Hernández, Esmeralda, additional, Sánchez Rodríguez, Alfonso, additional, Pérez Méndez, Denis, additional, Pérez Águila, Arlette, additional, Jiménez Minor, Cecilia, additional, Valdés Sánchez, Salvador David, additional, Franco Lazcano, Mariela Irazú, additional, Flores Flores, Vianey, additional, Ranchero Cerón, Juan Francisco, additional, Bautista Aguilar, Luis Javier, additional, Linares Botis, Carlos, additional, Hernández Flores, Ulises, additional, Lara Gutiérrez, Rosa, additional, Cuapio Meneses, Anette Michelle, additional, Segundo Rodríguez, Michell Guadalupe, additional, Vázquez Pérez, Julissa, additional, Meza Pluma, Angélica Giovanna, additional, and Portilla Díaz, Alejandra, additional

Published
2023
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31. Expected impact of immunomodulatory agents during pregnancy: A newborn's perspective

Author

Yiyi Luo, Daniel Acevedo, Núria Baños, Andrea Pluma, Raúl Castellanos‐Moreira, Estefania Moreno, Sebastian Rodríguez‐García, Angela Deyà‐Martínez, Ana García‐García, Estefania Quesada‐Masachs, Mireia Torres, Manel Casellas, Dolors Grados, Celia Martí‐Castellote, Jordi Antón, Alexandru Vlagea, Manel Juan, Ana Esteve‐Solé, and Laia Alsina

Subjects
Immunology, Pediatrics, Perinatology and Child Health, Immunology and Allergy
Published
2023

32. Guía de práctica clínica para el manejo del cáncer de mama en estadios tempranos, localmente avanzados y metastásicos

Author

Alejandro González-Garay, Marco Antonio Figueroa-Morales, Gibert Maza Ramos, Zuratzi Deneken-Hernandez, Juan Alberto Tenorio-Torres, Manuel Ernesto Magallanes-Maciel, Francisco Lozano-Ruiz, Yolanda Bautista-Aragón, Nathaly García-Orozco, Ricardo Villalobos, Brenda Carbajal-Saldaña, Liliana Velasco Hidalgo, María de la Luz García-Tinoco, José Luis Mayorga-Butrón, Marta Zapata Tarrés, Rubí Ramos-Prudencio, Miguel Ángel Pluma-Jiménez, Federico Maldonado-Magos, Daniel Rivera-Sánchez, Marytere Herrera-Martínez, Samuel Rivera-Rivera, Carlos Domínguez-Reyes, Luis Alfonso Romero-Robles, Antonio Maffuz-Aziz, Jorge Alberto Guadarrama-Orozco, Yanin Chavarri-Guerra, Gregorio Quintero-Beuló, Fabiola Flores-Vázquez, Juan Enrique Bargallo-Rocha, Francisco Javier Ochoa-Carrillo, Bertha Beatriz Montaño Velázquez, Rocío Grajales-Álvarez, Jaime Alonzo Reséndiz Colosia, Mónica Blake-Cerda, Betsabé Hernández-Hernández, Claudia Arce-Salinas, Marco Rodrigo Aguilar Ortíz, Felipe Villegas-Carlos, Georgina Garnica-Jaliffe, Raymundo Hernández-Montes de Oca, and Cynthia Villarreal-Garza

Published
2022

35. Guía de práctica clínica para el manejo del cáncer de mama en estadios tempranos, localmente avanzados y metastásicos

Author

Carbajal-Saldaña, Brenda, primary, Maffuz-Aziz, Antonio, additional, Guadarrama-Orozco, Jorge Alberto, additional, Mayorga-Butrón, José Luis, additional, Quintero-Beuló, Gregorio, additional, García-Tinoco, María de la Luz, additional, Rivera, Samuel, additional, Ochoa-Carrillo, Francisco Javier, additional, Bargalló-Rocha, Juan Enrique, additional, Maldonado-Magos, Federico, additional, Hernández-Montes de Oca, Raymundo, additional, Villegas-Carlos, Felipe, additional, Herrera, Marytere, additional, Romero-Robles, Luis Alfonso, additional, Deneken-Hernández, Zuratzi, additional, Rivera-Sánchez, Daniel, additional, Arce-Salinas, Claudia Haydeé, additional, Grajales-Álvarez, Rocío Crystal, additional, García-Orozco, Nathaly, additional, Villalobos-Valencia, Ricardo, additional, Lozano-Ruiz, Francisco Javier, additional, Hernández-Hernández, Betsabé, additional, Tenorio-Torres, Juan Alberto, additional, Domínguez-Reyes, Carlos Alberto, additional, Pluma-Jiménez, Miguel Ángel, additional, Chavarri-Guerra, Yanin, additional, Ramos-Prudencio, Rubí, additional, Villarreal-Garza, Cynthia Mayté, additional, Blake-Cerda, Mónica, additional, Flores-Vázquez, Fabiola, additional, Garnica-Jaliffe, Georgina, additional, Magallanes-Maciel, Manuel Ernesto, additional, Bautista-Aragón, Yolanda, additional, Reséndiz Colosia, Jaime Alonso, additional, Velasco Hidalgo, Liliana, additional, Zapata-Tarrés, Marta, additional, Aguilar Ortíz, Marco Rodrigo, additional, Maza Ramos, Gibert, additional, Montaño Velázquez, Bertha Beatriz, additional, Figueroa-Morales, Marco Antonio, additional, and González-Garay, Alejandro, additional

Published
2022
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36. Assessing HeberFast® Line Gavac, a lateral flow immunochromatographic system for the rapid detection of anti-Bm86 antibodies in Gavac vaccinated cattle

Author

Yohandy Fuentes-Rodríguez, Milagros Vargas-Hernández, Daymi Abreu-Remedios, Marisela Suárez-Pedroso, Carlos Montero-Espinosa, Dayamí Dorta Hernandez, Alianne Fundora-Llera, Sunamit Rodríguez-Mendez, Danny Pérez-Pérez, Elaine Santana-Rodríguez, Carlos Duarte, Viviana Pluma Perez, Ivis Pasaron Rodriguez, Enrique Pérez-Cruz, Yusmel Sordo-Puga, Yeni Hernández Lorenzo Hernández Lorenzo, Ernesto Galbán-Rodríguez, Aymé Oliva-Cárdenas, Carlos Hernandez-Diaz, and Isabel Rosales-Garcia Rosales-Garcia

Subjects
Infectious Diseases, biology, Epidemiology, parasitic diseases, biology.protein, Antibody, Line (text file), Applied Microbiology and Biotechnology, Virology, Rapid detection, Biotechnology
Abstract

Rhipicephalus Boophilus microplus cattle tick is a scourge for livestock production. The infestations produced by this pathogen are incompletely contained by chemical treatments, with the associated environmental pollution risks. Vaccination against cattle ticks has emerged as a feasible and environmentally friendly strategy to control tick-borne diseases. In this setting, Gavac® vaccine has proven effective in decreasing cattle tick populations through antibody responses against the tick Bm86 antigen, as part of an Integrated Control Program. However, animal vaccination programs require easy and ready-to-use screening tests to follow up the immune response in vaccinated animals under field conditions. This study reports the evaluation HeberFast® Line Gavac, a lateral flow immunochromatographic system for the rapid detection of anti Bm86 antibodies in vaccinated cattle. The system was tested on 598 serum samples taken from immunized animals, arranged in three groups according to their anti-Bm86 antibody response in ELISA (209 high, 150 medium or 239 low and 100 samples from non-immunized animals. The HeberFast® Line Gavac system was assessed for sensitivity, specificity, and concordance against the ELISA reference test. Consistency was evaluated among production batches and inter-analyst reading-independent consistency at two moments: ten minutes after completing the test and after strip drying. The system showed high sensitivity (81.6%, 82.2%, and 81%), specificity (96.7, 94.6, and 93.3%), and agreement with the ELISA reference test (75%; 74%, and 71%) for high, medium and low anti-Bm86 sera, respectively. The effectiveness of the diagnosis was 87.6; 87.1; 85.9 for high, medium, and low antibody titers, respectively. Consistency among production batches and analysts was documented, and no significant differences between evaluation times were found. These results indicate that HeberFast® Line Gavac is a valuable tool for the serological surveillance of Gavac vaccinated cattle.

Published
2021

37. [Late onset Pompe disease: an analysis of 19 patients from Mexico]

Author

L M, Sánchez-Sánchez, V, Martinez-Montoya, R, Sandoval-Pacheco, B, Torres-Octavo, D M, Anaya-Castro, O, Padilla-de la Torre, C A, Arellano-Valdez, C A, Ávila-Rejón, P A, Aguilar-Juárez, M, Espino-Pluma, A, González-Santillanes Cruz, E, Kazakova, R I, Martinez-Segovia, D, Olmos-Morfin, P F, Radillo-Díaz, I, Solís-Sánchez, M, Vázquez Del Mercado-Espinosa, C E, Villarroel-Cortés, and J S, Velarde-Félix

Subjects
Adult, Young Adult, Adolescent, Muscular Diseases, Glycogen Storage Disease Type II, Child, Preschool, Mutation, Humans, alpha-Glucosidases, Age of Onset, Child, Mexico
Abstract

Pompe disease (PD) is a rare metabolic myopathy with an ample and heterogeneous clinical spectrum, particularly late onset PD (LOPD), which is characterized by appearance at older age and slower disease progression, leading to diagnostic confirmation difficulty and delay.To describe the genotype and clinical characteristics of Mexican patients with LOPD.Clinical information from 19 Mexican patients with LOPD confirmed with enzyme activity and GAA gene analysis was reviewed. Genetic information of our population was crossed with international genetic databases.Median age between onset of symptoms and diagnosis was 19 years (range 2-43) and diagnostic confirmation 36 years (range 9-52). Most frequently referred symptoms were proximal axial weakness (n = 17; 89.5%), waddling gait (n = 17; 89.5%) and hyperlordosis (n = 7; 36.8%). Sixteen patients (84.2%) were evaluated with electromyography; a myopathic pattern was reported in 11 (57.8%), but only in 5 patients (26%) paraspinal muscle evaluation was included. The most pathogenic mutations in our group were c.-32-13TG, c.1799GA and c.1082CT.Similar to other international publications, LOPD in Mexico is clinically heterogeneous; patients may delay years before diagnosis is established. Axial and proximal weakness is the most frequent clinical feature; thus, electromyography with paraspinal muscle evaluation is essential. Except for one, the mutations found in our patients have been previously reported in PD genetic databases.Enfermedad de Pompe de inicio tardío: análisis de una casuística de 19 pacientes mexicanos.Introducción. La enfermedad de Pompe es una miopatía metabólica rara con espectro clínico heterogéneo, especialmente la de inicio tardío, cuya sintomatología es de progresión más lenta y representa un gran reto diagnóstico. Objetivo. Describir el genotipo y las características clínicas de pacientes mexicanos con Pompe de inicio tardío (LOPD). Material y métodos. Se incluyó a 19 pacientes mexicanos con LOPD confirmada mediante actividad enzimática y estudio molecular del gen GAA. Se evaluaron datos clínicos y se revisaron las mutaciones en bases de datos genómicas. Resultados. La mediana de edad de inicio de los síntomas fue de 19 años (rango: 2-43 años), y la edad de diagnóstico, de 36 años (rango: 9-52 años). Los síntomas más frecuentes fueron debilidad axial y proximal (n = 17; 89,5%), marcha basculante (n = 17; 89,5%) e hiperlordosis (n = 7; 36,8%). A 16 pacientes (84,2%) se les realizó electromiografía; 11 (57,8%) describieron patrón miopático y sólo en cinco pacientes (26%) se incluyó la valoración de los músculos paraespinales. Las variantes patogénicas más frecuentes en nuestra casuística fueron c.-32-13TG, c.1799GA y c.1082CT. Conclusiones. Parecido a lo comunicado en publicaciones internacionales, la LOPD en México es clínicamente heterogénea; los pacientes pueden tardar años en llegar al diagnóstico. La debilidad muscular axial y proximal es el dato clínico más frecuente, por lo que la electromiografía debe incluir valoración de los músculos paraespinales. A excepción de una, las mutaciones encontradas en nuestra serie de casos se encuentran previamente descritas en las bases de datos de enfermedad de Pompe.

Published
2022

38. The ovarian reserve as measured by the anti-Müllerian hormone is not diminished in patients with rheumatoid arthritis compared to the healthy population

Author

Mireia, Lopez-Corbeto, Sergio, Martínez-Mateu, Andrea, Pluma, Roser, Ferrer, María, López-Lasanta, Juan José, De Agustín, Mireia, Barceló, Antonio, Julià, and Sara, Marsal

Subjects
Adult, Anti-Mullerian Hormone, Immunology, Middle Aged, Arthritis, Rheumatoid, Young Adult, Rheumatology, Pregnancy, Antirheumatic Agents, Humans, Immunology and Allergy, Female, Ovarian Reserve, Biomarkers
Abstract

Rheumatoid arthritis (RA) is the most prevalent chronic inflammatory arthritis, affecting 0.5-1% worldwide population and predominates in females. Altered fertility has been reported due to a decrease in ovarian reserve secondary to sustained inflammation. The anti-Müllerian Hormone (AMH) is currently the most reliable biomarker of ovarian reserve. However, few and contradictory studies have been reported to analyse the relationship between fertility in RA female patients and AMH. The aim of present study is to determine the AMH serum concentrations in a long-standing RA patient group and control group. We also sought to determine the correlation between AMH serum levels and disease activity measured by different parameters and the effect of biological DMARDs.Serum AMH levels were measured in 60 women with long-standing RA aged 20-50 y.o. and compared to 59 healthy women. AMH was assessed by an electrochemiluminescence immunoassay method (ECLIA, Roche Diagnostics) and a large data set of clinical and molecular data was annotated. Demographic parameters, RA disease activity measured by DAS28 score and inflammatory biomarkers such as ESR, CRP, lymphocyte CD4+, CD8+, NK cells, IL-10 and IL-6 were determined. A comprehensive gynaecological self-administered questionnaire was given. Serum AMH levels were age-correlated. Differences between groups were calculated using Student's t-test or Mann-Whitney U-test for continuous variables and Fisher's exact test for categorical variables. Multivariate analysis was conducted by the partial correlation coefficient. Linear regression analysis was performed to study the effect of different variables on proportional AMH change. p-values0.005 were considered significant.The median age was similar in AR and control groups (37.4±6.23 vs. 37.3±6.27 p=0.937). Mean disease duration was 8.37±5.36 years. The number of previous treatments was3 in 71.7% of patients and ≥3 in 28.3%. Disease activity measured by DAS28 was 2.89± 1.54. The age-adjusted mean serum concentration of AMH was 1.27 ng/ml [IQR 0.42; 2.24] in RA patients and 1.31 ng/ml [IQR 0.46; 3.09] in controls (p=0.608). Neither disease activity (p=0.862), nor current or previous bDMARDs treatments (p=0.871) were associated with AMH levels. However, a negative linear correlation was observed between AMH and IL-10 levels (p=0.033).Our study shows that ovarian reserve determined by AMH serum levels is not reduced in rheumatoid arthritis patients compared with healthy controls. In our series, AMH levels were not affected by disease activity, however, a significant correlation was observed between AMH and IL-10 levels. These results support the role of cytokines profile in the female reproductive system and will focus further investigations in this critical area, mainly once biological DMARDs have been recommended in RA pregnant patients.

Published
2021

40. Cuando las dosis habituales no son suficientes

Author

María José Macías Reyes, Sara Marsal Barril, Andrea Pluma Sanjurjo, and María Dolors Grados Canovas

Subjects
Rheumatology, business.industry, Medicine, business
Published
2022

41. Small-Aperture Intracorneal Inlay Implantation in Emmetropic Presbyopic Patients: A Systematic Review

Author

Universidad de Sevilla. Departamento de Física de la Materia Condensada, Pluma-Jaramago, Inés, Rocha de Lossada, Carlos, Rachwani-Anil, Rahul, Sánchez González, José María, Universidad de Sevilla. Departamento de Física de la Materia Condensada, Pluma-Jaramago, Inés, Rocha de Lossada, Carlos, Rachwani-Anil, Rahul, and Sánchez González, José María

Abstract

Small-aperture corneal inlays, commonly known as KAMRA, are tiny optical devices inserted in the corneal stroma aiming to gain near vision in patients with presbyopia. The purpose of this study was to systematically review case series of small-aperture corneal inlays performed in presbyopic emmetropic patients and to evaluate the visual outcomes of this procedure. This systematic review included 18 articles published between 2011 and 2018, overall studying 2724 eyes from 2691 participants. The mean longest follow-up was 19 months. Results showed that 78.5% of eyes reported an uncorrected near visual acuity of 20/32 or better and 90.50% of eyes achieved an uncorrected distance visual acuity of 20/25 or better. All patients experienced an improvement in uncorrected near visual acuity with a patient satisfaction ranging between 60% and 90%. The highlighted complications were keratocyte activation leading to corneal stromal haze, epithelial growth, iron deposits and poor distance visual acuity. Explantation was carried out in 101 eyes (3.7%) due to distance vision blurriness, development of epithelial microcysts, incorrect implant placement or hyperopic shift changes. KAMRA demonstrated high efficacy. However, safety and satisfaction rates remain unclear. Despite the low explantation rates reported in the literature, some complications were permanent. The results and conclusions should be taken with caution due to the conflict of interest stated in the reviewed articles.

Published
2022

43. Identification of differential biological mechanisms between pregnancy and postpartum in Rheumatoid Arthritis

Author

Pluma Sanjurjo, Andrea, Marsal Barril, Sara, Förger, Frauke, Østensen, Monika, and Selva O'Callaghan, Albert

Subjects
Single-cell, Embaràs, Reumatologia, Ciències de la Salut
Abstract

L’embaràs a l’Artritis Reumatoide (AR) proporciona un model únic per l’estudi dels mecanismes biològics de la malaltia. Durant l’embaràs, generalment, es produeix una interrupció transitòria de l’activitat de l’AR que es reprèn després del part. En conseqüència, l’estudi dels patrons moleculars associats als canvis en l’activitat de la malaltia durant l’embaràs podria proporcionar una informació essencial sobre les principals vies biològiques de la malaltia. Aquí perfilem els transcriptomes de 8.604 cèl·lules mononuclears de sang perifèrica d’alta qualitat (CMSP) amb sc-RNAseq de dues dones amb AR a la setmana 30 de gestació i la setmana 8 del postpart. Es van estudiar les CMSP després de cultiu in vitro durant 48 hores amb i sense estimulació de cèl·lules T. El present estudi és el primer atles amb single cell de CMSP a AR durant l’embaràs i el postpart. L’anàlisi inicial agrupat de les cèl·lules va dividir-les en cèl·lules Natural Killer i T no estimulades, cèl·lules T estimulades, cèl·lules mieloides i cèl·lules B. Aquests clústers es van subdividir en 35 clústers més específics. Hem detectat un gradient d’activitat efectora al compartiment de cèl·lules T no estimulades. Al postpart, l’anàlisi de la composició cel·lular va revelar, en les cèl·lules no estimulades, un augment de les cèl·lules T naïf en repòs i de les cèl·lules T CD8+ que produeixen GZMA+ GNLY+. En les cèl·lules estimulades, l’anàlisi va revelar un augment de cèl·lules de memòria central T activades amb alt contingut ribosòmic i les cèl·lules T naïf activades recentment. A les cèl·lules de l’embaràs, hem trobat una resistència immune a l’estimulació cel·lular en els monòcits CD14+ i NK CD16+ CD56dim. Finalment, l'expressió gènica diferencial en els diferents tipus cel·lulars va revelar gens potencialment relacionats amb la modulació de la malaltia durant l'embaràs. També gens que podrien estar implicats en l’embaràs i l’oncogènesi i, gens implicats en RA i preeclàmpsia. El embarazo en la Artritis Reumatoide (AR) proporciona un modelo único para el estudio de los mecanismos biológicos de la enfermedad. Durante el embarazo, generalmente, se produce una interrupción transitoria de la actividad de la AR que se retoma después del parto. En consecuencia, el estudio de los patrones moleculares asociados a los cambios en la actividad de la enfermedad durante el embarazo podría proporcionar una información esencial sobre las principales vías biológicas de la enfermedad. Aquí perfilamos los transcriptomas de 8.604 células mononucleares de sangre periférica de alta calidad (CMSP) con sc-RNAseq de dos mujeres con AR en la semana 30 de gestación y en la semana 8 del postparto. Se van a estudiar las CMSP después de cultivo in vitro durante 48 horas con y sin estimulación de células T. El presente estudio es el primer atlas con single cell de CMSP en AR durante el embarazo y el postparto. El análisis inicial agrupado de las células las divide en células Natural Killer y T no estimuladas, células T estimuladas, células mieloides y células B. Estos clústeres se subdividieron en 35 clústeres más específicos. Hemos detectado un gradiente de actividad efectora en el compartimento de células T no estimuladas. En el postparto, el análisis de la composición celular reveló, en las células no estimuladas, un aumento de las células T naïf en reposo y de las células T CD8+ que producen GZMA+ GNLY+. En las células estimuladas, el análisis reveló un aumento de células de memoria central T activadas con alto contenido ribosómico y las células T naïf activadas recientemente. En las células del embarazo, hemos encontrado una resistencia inmune a la estimulación celular en los monocitos CD14+ y NK CD16+ CD56dim. Finalmente, la expresión génica diferencial en los diferentes tipos celulares reveló genes potencialmente relacionados con la modulación de la enfermedad durante el embarazo. También genes que podrían estar implicados en el embarazo y la oncogénesis y, genes implicados en RA y preeclampsia. Pregnancy in Rheumatoid Arthritis (RA) provides a unique model to study the biological mechanisms of the disease. In RA pregnancy, there is generally a transitory interruption of disease activity that is resumed after delivery. Consequently, the study of the molecular patterns associated with changes in disease activity during pregnancy could provide essential information on the main biologic pathways in the disease. Here we profile the transcriptomes of 8,604 high quality peripheral blood mononuclear cells (PBMCs) with sc-RNAseq from two RA women at the 30th week of gestation and at the 8th week of postpartum. PBMCs were studied after in vitro culture for 48 hours with and without T cell stimulation. The present study is the first single-cell atlas of PBMCs of RA during pregnancy and postpartum. An initial cell clustering analysis divided the cells into NK and unstimulated T cells, stimulated T cells, myeloid cells and B cells. These clusters could be further subdivided into 35 highly specific clusters. We detected an effectorness gradient in the unstimulated T cell compartment. In postpartum, cell composition analysis revealed an increase in unstimulated resting naïve T cells and GZMA+ GNLY+ producing CD8+ T cells. In stimulated cells, the analysis revealed an increase in activated T central memory cells with high ribosomal content and recently activated naïve T cells. In cells from pregnancy, we found an immune resistance to cell stimulation in CD14+ monocytes and CD16+ CD56dim NKs. Finally, differential gene expression between the different cell clusters revealed genes related possibly associated to modulation of disease during pregnancy. Also, genes that could be involved in pregnancy and oncogenesis and genes involved in RA and preeclampsia. Universitat Autònoma de Barcelona. Programa de Doctorat en Medicina

Published
2022

44. Enfermedad de Pompe de inicio tardío: análisis de una casuística de 19 pacientes mexicanos

Author

Sánchez Sánchez, Luz María, primary, Martinez Montoya, Valentina, additional, Sandoval Pacheco, Roberto, additional, Torres Octavo, Benjamin, additional, Anaya Castro, Diana M., additional, Padilla de la Torre, Ofelia, additional, Arellano Valdez, Carmen A., additional, Ávila Rejón, Carmen, additional, Aguilar Juárez, Pedro A., additional, Espino Pluma, Martín, additional, González Santillanes Cruz, Antonio, additional, Kazakova, Ekaterina, additional, Martinez Segovia, Rosa I., additional, Olmos Morfin, Dorian, additional, Radillo Díaz, Pablo, additional, Solís Sánchez, Ishar, additional, Vázquez del Mercado-Espinosa, Monica, additional, Villarroel Cortés, Camilo E., additional, and Velarde Félix, Jesús S., additional

Published
2022
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46. A dynamical version of the SYK model and theq-Brownian motion

Author

Miguel Pluma and Roland Speicher

Subjects
Statistics and Probability, Multivariate statistics, Algebra and Number Theory, Structure (category theory), Motion (geometry), Order (ring theory), Syk, Discrete Mathematics and Combinatorics, Limit (mathematics), Statistical physics, Statistics, Probability and Uncertainty, Random matrix, Brownian motion, Mathematics
Abstract

We extend recent results on the asymptotic eigenvalue distribution of the SYK model to the multivariate case and relate the limit of a dynamical version of the SYK model with the q-Brownian motion, a non-commutative deformation of classical Brownian motion. Furthermore, we extend the results for fluctuations to the multivariate setting and treat also higher correlation functions. The structure of our results for the sparse SYK random matrices resembles the formulas for higher order freeness for ordinary GUE random matrices.

Published
2021

48. Genetic association between CD96 locus and immunogenicity to anti-TNF therapy in Crohn’s disease

Author

Andrés C. García-Montero, Montserrat Andreu, Sara Marsal, Fernando Muñoz, Juan Luis Mendoza, Valle García-Sánchez, Javier P. Gisbert, Núria Palau, Cristina Saro, Adrià Aterido, Julián Panés, Esther Garcia-Planella, Fernando Gomollón, Pilar Nos Mateu, Laia Codó, Eugeni Domènech, Maria Esteve, María Chaparro, Antonio Julià, M.I. Vera, Ana Gutiérrez, J. Manyé, Andrea Pluma, Manuel Barreiro-de Acosta, and María López-Lasanta

Subjects
0301 basic medicine, Pharmacology, Crohn's disease, CD96, biology, business.industry, Immunogenicity, Locus (genetics), Disease, medicine.disease, 030226 pharmacology & pharmacy, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Immunology, Genetics, biology.protein, Molecular Medicine, Medicine, Tumor necrosis factor alpha, Antibody, business, Genetic association
Abstract

The production of antibodies to anti-tumor necrosis factor alpha (TNF) agents is one of the main causes of treatment failure in Crohn’s disease (CD). To date, however, the contribution of genetics to anti-TNF immunogenicity in CD is still unknown. The objective of the present study was to identify genetic variation associated with anti-TNF immunogenicity in CD. We performed a two-stage genome-wide association study in a cohort of 96 and 123 adalimumab-treated patients, respectively. In the discovery stage, we identified a genome-wide significant association between the CD96 locus and the production of antibodies to anti-TNF treatment (P = 1.88e–09). This association was validated in the replication stage (P

Published
2019

49. When the usual doses are not enough

Author

Andrea Pluma Sanjurjo, María José Macías Reyes, Sara Marsal Barril, and María Dolors Grados Canovas

Subjects
medicine.medical_specialty, business.industry, medicine, General Medicine, Intensive care medicine, business
Published
2021

50. Multidisciplinary models for pregnancy care in patients with rheumatic diseases: Clinical experiences and experts opinion.

Author

Pluma, Andrea, Alsina, Laia, Baniandrés, Ofelia, Caliz, Rafael, Casellas, Manel, Grados, Dolors, López, Juan Antonio Martínez, Pérez, Erika Padrón, Polo, Ana, Reigosa, Jose Maria Pego, Trujillo, Elisa, and Vela, Paloma

Subjects
*RHEUMATISM, *PREGNANCY, *PATIENT care, *HUMAN resources departments, *AUTOIMMUNE diseases, *RHEUMATOLOGISTS, *EDUCATION research
Abstract

Objectives: To describe different models of multidisciplinary pregnancy care for patients with inflammatory and autoimmune rheumatic diseases, and the steps to follow concerning their implementation. Methods: A qualitative study was conducted including: (1) a comprehensive literature search in PUBMED focused on multidisciplinary care models; (2) structured interviews with seven rheumatologists from multidisciplinary pregnancy clinics for patients with inflammatory and autoimmune rheumatic diseases. Data were collected related to the hospitals, medical departments, populations cared for, and multidisciplinary care models (type, material, and human resources, professional requirements, objectives, referral criteria, agendas, protocols, responsibilities, decision-making, research and educational activities, multidisciplinary clinical sessions, initiation/start, planning, advantages/disadvantages, and barriers/facilitators for implementation); (3) a nominal meeting group in which the results of searches and interviews were analyzed and the recommendations for the implementation of the multidisciplinary care models defined. Results: We analyzed seven models of multidisciplinary care in pregnancy, implemented 3-10 years ago, which can all be summarized by two different subtypes: parallel (patients are assessed the same day in the involved medical services) and preferential (patients are assessed on different days in the involved medical services) circuits. The implementation of a specific model results rather from an adaptation to the hospital's and professionals' circumstances. Correct planning and good harmony among professionals are key points to implementing a model. Conclusion: Different multidisciplinary care models have been implemented for patients with inflammatory and autoimmune rheumatic diseases during pregnancy. They pretend to improve care, system efficiency, and collaboration among specialists and should be carefully implemented. [ABSTRACT FROM AUTHOR]

Published
2022
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