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330 results on '"Martinez Bueno A."'

1. Chiral ferroelectric nematic liquid crystals as materials for versatile laser devices

Author

Folcia, César L., Ortega, Josu, Sierra, Teresa, Martínez-Bueno, Alejandro, and Etxebarria, Jesús

Subjects
Physics - Optics, Condensed Matter - Soft Condensed Matter
Abstract

We present a liquid-crystal laser device based on the chiral ferroelectric nematic phase (NF*). The laser medium is obtained by mixing a ferroelectric nematic material with a chiral agent and a small proportion of a fluorescent dye. Notably, in the NF* phase very low electric fields perpendicular to the helical axis are able to reorient the molecules, giving rise to a periodic structure whose director profile is not single harmonic but contains the contribution of various Fourier components. This feature induces the appearance of several photonic bandgaps whose spectral ranges depend on the field, which can be exploited to build tunable laser devices. Here we report the characterization of home-made NF* lasers that can be tunable under low electric fields and present laser action in two of the photonic bands of the material. The obtained results open a promising route for the design of new and more versatile liquid-crystal based lasers.

Published
2024

2. Trastuzumab deruxtecan in patients with previously treated HER2-low advanced breast cancer and active brain metastases: the DEBBRAH trial

Author

Vaz Batista, M., Pérez-García, J.M., Cortez, P., Garrigós, L., Fernández-Abad, M., Gion, M., Martínez-Bueno, A., Saavedra, C., Teruel, I., Fernandez-Ortega, A., Servitja, S., Ruiz-Borrego, M., de la Haba-Rodríguez, J., Martrat, G., Pérez-Escuredo, J., Alcalá-López, D., Sampayo-Cordero, M., Braga, S., Cortés, J., and Llombart-Cussac, A.

Published
2024
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5. Distributed Adaptive Control for Virtual Cyborgs: A Case Study for Personalized Rehabilitation

Author

Kahali, S., Ngo, T., Mandahar, T. S., Martínez-Bueno, E., Guerrero-Rosado, O., López-Carral, H., Freire, I. T., Mura, A., Verschure, P. F. M. J., Goos, Gerhard, Founding Editor, Hartmanis, Juris, Founding Editor, Bertino, Elisa, Editorial Board Member, Gao, Wen, Editorial Board Member, Steffen, Bernhard, Editorial Board Member, Yung, Moti, Editorial Board Member, Meder, Fabian, editor, Hunt, Alexander, editor, Margheri, Laura, editor, Mura, Anna, editor, and Mazzolai, Barbara, editor

Published
2023
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8. Fluorescence In Situ Hybridization (FISH) for the Characterization and Monitoring of Primary Cultures from Human Tumors

Author

Ruth Román-Lladó, Cristina Aguado, Núria Jordana-Ariza, Jaume Roca-Arias, Sonia Rodríguez, Erika Aldeguer, Mónica Garzón-Ibañez, Beatriz García-Peláez, Marta Vives-Usano, Ana Giménez-Capitán, Andrés Aguilar, Alejandro Martinez-Bueno, María Gonzalez Cao, Florencia García-Casabal, Santiago Viteri, Clara Mayo de las Casas, Rafael Rosell, and Miguel Angel Molina-Vila

Subjects
primary culture, FISH, malignant effusions, malignant ascites, Pathology, RB1-214
Abstract

Genetic and drug sensitivity assays on primary cultures are not only of basic but also of translational interest and could eventually aid oncologists in the selection of treatments. However, cancer cells need to be identified and differentiated from the non-tumor cells always present in primary cultures. Also, successive passages can change the proportions of these two subpopulations. In this study, we propose fluorescence in situ hybridization (FISH) analysis on cell smears to determine the presence of tumor cells in primary cultures obtained from patients carrying translocations or copy number gains. FISH proved to be an easy, fast, economic, and reliable method of characterizing cell populations, which could be used repeatedly at different passages to monitor variations and to confirm the maintenance of translocations and copy number gains throughout the culture process.

Published
2023
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11. Real-world safety and effectiveness of maintenance niraparib for platinum-sensitive recurrent ovarian cancer: A GEICO retrospective observational study within the Spanish expanded-access programme

Author

Cueva, Juan F., Palacio, Isabel, Churruca, Cristina, Herrero, Ana, Pardo, Beatriz, Constenla, Manuel, Santaballa, Ana, Manso, Luis, Estévez, Purificación, Maximiano, Constanza, Legerén, Marta, Marquina, Gloria, de Juan, Ana, Quindós, María, Sánchez, Luisa, Barquin, Arantzazu, Fernández, Isaura, Martín, Cristina, Juárez, Asunción, Martín, Teresa, García, Yolanda, Yubero, Alfonso, Gallego, Alejandro, Martínez Bueno, Alejandro, Guerra, Eva, and González-Martín, Antonio

Published
2023
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12. A Virtual Reality System for the Simulation of Neurodiversity

Author

López-Carral, Héctor, Blancas-Muñoz, Maria, Mura, Anna, Omedas, Pedro, España-Cumellas, Àdria, Martínez-Bueno, Enrique, Milliken, Neil, Moore, Paul, Haque, Leena, Gilroy, Sean, Verschure, Paul F. M. J., Kacprzyk, Janusz, Series Editor, Gomide, Fernando, Advisory Editor, Kaynak, Okyay, Advisory Editor, Liu, Derong, Advisory Editor, Pedrycz, Witold, Advisory Editor, Polycarpou, Marios M., Advisory Editor, Rudas, Imre J., Advisory Editor, Wang, Jun, Advisory Editor, Yang, Xin-She, editor, Sherratt, Simon, editor, Dey, Nilanjan, editor, and Joshi, Amit, editor

Published
2022
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16. Prevention of sacituzumab govitecan (SG)-related neutropenia and diarrhea in patients (pts) with triple-negative or HR+/HER2- advanced breast cancer (ABC; PRIMED): A phase 2 trial.

Author

Pérez García, José Manuel, primary, Gión, María, additional, Ruiz-Borrego, Manuel, additional, Blancas, Isabel, additional, Lopez-Miranda, Elena, additional, Blanch, Salvador, additional, Recalde, Sabela, additional, Calvo, Lourdes, additional, Gonzalez, Xavier, additional, Ancizar, Nerea, additional, Morales Murillo, Serafin, additional, Cortez, Patricia, additional, Cardona, Javier, additional, Shimizu, Eileen, additional, Guerrero, José Antonio, additional, Sampayo-Cordero, Miguel, additional, Martinez-Bueno, Alejandro, additional, Cortes, Javier, additional, and Llombart-Cussac, Antonio, additional

Published
2024
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17. Efficacy and genomic analysis of HER2-mutant, metastatic triple-negative breast cancer treated with neratinib alone or in combination with trastuzumab in the phase 2 SUMMIT basket trial.

Author

Jhaveri, Komal L., primary, Hurvitz, Sara A., additional, Brufsky, Adam, additional, Bose, Ron, additional, de Miguel, Maria J., additional, Evron, Ella, additional, Unni, Nisha, additional, Reid, Sonya A., additional, Quinn, David I., additional, Mahalingam, Devalingam, additional, Saura, Cristina, additional, García-Sáenz, Jose A., additional, Martinez-Bueno, Alejandro, additional, Guerrero, Angel, additional, De La Fouchardiere, Christelle, additional, Wildiers, Hans, additional, Bischof, Georg Friedrich, additional, Bebchuk, Judith D., additional, Eli, Lisa DeFazio, additional, and Solit, David B., additional

Published
2024
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20. Analysis of Copy Number Variations in Solid Tumors Using a Next Generation Sequencing Custom Panel

Author

Marta Vives-Usano, Beatriz García Pelaez, Ruth Román Lladó, Mónica Garzón Ibañez, Erika Aldeguer, Sonia Rodriguez, Andrés Aguilar, Francesc Pons, Santiago Viteri, Carlos Cabrera, Maria José Catalán, Irene Moya, María Gonzalez Cao, Juan José García-Mosquera, Alejandro Martinez-Bueno, Ekaterina Meshoulam, Nuria Jordana, Laura Berrocal, Rafael Rosell, Miguel Angel Molina, and Clara Mayo de las Casas

Subjects
tumor, mutations, next generation sequencing, copy number alterations, Pathology, RB1-214
Abstract

Somatic copy number variations (CNV; i.e., amplifications and deletions) have been implicated in the origin and development of multiple cancers and some of these aberrations are designated targets for therapies. Although FISH is still considered the gold standard for CNV detection, the increasing number of potentially druggable amplifications to be assessed makes a gene-by-gene approach time- and tissue-consuming. Here we investigated the potential of next generation sequencing (NGS) custom panels to simultaneously determine CNVs across FFPE solid tumor samples. DNA was purified from cell lines and FFPE samples and analyzed by NGS sequencing using a 20-gene custom panel in the GeneReader Platform®. CNVs were identified using an in-house algorithm based on the UMI read coverage. Retrospective validation of in-house algorithm to identify CNVs showed 97.1% concordance rate with the NGS custom panel. The prospective analysis was performed in a cohort of 243 FFPE samples from patients arriving at our hospital, which included 74 NSCLC tumors, 148 CRC tumors, and 21 other tumors. Of them, 33% presented CNVs by NGS and in 14 cases (5.9%) the CNV was the only alteration detected. We have identified CNV alterations in about one-third of our cohort, including FGFR1, CDK6, CDK4, EGFR, MET, ERBB2, BRAF, or KRAS. Our work highlights the need to include CNV testing as a part of routine NGS analysis in order to uncover clinically relevant gene amplifications that can guide the selection of therapies.

Published
2021
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25. Erdafitinib in patients with advanced solid tumours with FGFR alterations (RAGNAR): an international, single-arm, phase 2 study

Author

Pant, S, Schuler, M, Iyer, G, Witt, O, Doi, T, Qin, S, Tabernero, J, Reardon, D, Massard, C, Minchom, A, Lugowska, I, Carranza, O, Arnold, D, Gutierrez, M, Winter, H, Stuyckens, K, Crow, L, Najmi, S, Hammond, C, Thomas, S, Santiago-Walker, A, Triantos, S, Sweiti, H, Loriot, Y, Greco, M, Coward, J, Joshua, A, Karapetis, C, Hart, C, Zhang, A, Prenen, H, Goeminne, J, Machiels, J, Rottey, S, Corassa, M, Molin, G, Tiscoski, K, Jardim, D, Mak, M, Fu, W, Yao, H, Huang, J, Jiang, H, Chen, B, Yan, D, Yang, Y, Le Tourneau, C, Penel, N, Salas, S, Blay, J, Brachet, P, Durando, X, Emambux, S, Ravaud, A, Folprecht, G, Ahrens, M, Golf, A, Haag, G, Lordick, F, Desuki, A, Cazzaniga, M, Ciardiello, F, Milella, M, Koyama, T, Hirooka, Y, Okamoto, W, Aogi, K, Kuboki, Y, Lee, J, Kim, S, Ahn, M, Chang, J, Kim, Y, Nam, D, Park, J, Paz-Ares, L, Moreno, V, Cervantes, A, Calvo, M, Falcon, A, Gonzalez, A, Martinez Bueno, A, Garcia-Corbacho, J, Longo, F, Yen, C, Chen, J, Hou, M, Chao, Y, Rau, K, Chiu, T, Feng, Y, Hsu, C, Huang, W, Lai, K, Yeh, S, Palmer, D, Welsh, L, Plummer, R, Bilen, M, Arrowsmith, E, Spigel, D, Zandberg, D, Doroshow, D, Lu-Emerson, C, Moezi, M, Paulson, S, Ward, P, Chaves, J, Grigg, C, Hussein, A, Manda, S, Monticelli, M, Qamar, R, Richey, S, Tamura, D, Wilks, S, Pant S., Schuler M., Iyer G., Witt O., Doi T., Qin S., Tabernero J., Reardon D. A., Massard C., Minchom A., Lugowska I., Carranza O., Arnold D., Gutierrez M., Winter H., Stuyckens K., Crow L., Najmi S., Hammond C., Thomas S., Santiago-Walker A., Triantos S., Sweiti H., Loriot Y., Greco M. A., Coward J., Joshua A., Karapetis C., Hart C., Zhang A., Prenen H., Goeminne J. -C., Machiels J. -P., Rottey S., Corassa M., Molin G. Z. D., Tiscoski K., Jardim D. L. F., Mak M., Fu W., Yao H., Huang J., Jiang H., Chen B., Yan D., Yang Y., Le Tourneau C., Penel N., Salas S., Blay J. -Y., Brachet P. -E., Durando X., Emambux S., Ravaud A., Folprecht G., Ahrens M., Golf A., Haag G. M., Lordick F., Desuki A., Cazzaniga M., Ciardiello F., Milella M., Koyama T., Hirooka Y., Okamoto W., Aogi K., Kuboki Y., Lee J., Kim S. -B., Ahn M. -J., Chang J. H., Kim Y. -M., Nam D. -H., Park J. -S., Paz-Ares L., Moreno V., Cervantes A., Calvo M., Falcon A., Gonzalez A., Martinez Bueno A., Garcia-Corbacho J., Longo F., Yen C. -J., Chen J. -S., Hou M. -F., Chao Y., Rau K. -M., Chiu T. -J., Feng Y. -H., Hsu C. -H., Huang W. -T., Lai K. -M., Yeh S. -P., Palmer D., Welsh L., Plummer R., Bilen M., Arrowsmith E., Spigel D. R., Zandberg D. P., Doroshow D., Lu-Emerson C., Moezi M., Paulson S., Reardon D., Ward P., Chaves J., Grigg C., Hussein A., Manda S., Monticelli M., Qamar R., Richey S. L., Tamura D., Wilks S., Pant, S, Schuler, M, Iyer, G, Witt, O, Doi, T, Qin, S, Tabernero, J, Reardon, D, Massard, C, Minchom, A, Lugowska, I, Carranza, O, Arnold, D, Gutierrez, M, Winter, H, Stuyckens, K, Crow, L, Najmi, S, Hammond, C, Thomas, S, Santiago-Walker, A, Triantos, S, Sweiti, H, Loriot, Y, Greco, M, Coward, J, Joshua, A, Karapetis, C, Hart, C, Zhang, A, Prenen, H, Goeminne, J, Machiels, J, Rottey, S, Corassa, M, Molin, G, Tiscoski, K, Jardim, D, Mak, M, Fu, W, Yao, H, Huang, J, Jiang, H, Chen, B, Yan, D, Yang, Y, Le Tourneau, C, Penel, N, Salas, S, Blay, J, Brachet, P, Durando, X, Emambux, S, Ravaud, A, Folprecht, G, Ahrens, M, Golf, A, Haag, G, Lordick, F, Desuki, A, Cazzaniga, M, Ciardiello, F, Milella, M, Koyama, T, Hirooka, Y, Okamoto, W, Aogi, K, Kuboki, Y, Lee, J, Kim, S, Ahn, M, Chang, J, Kim, Y, Nam, D, Park, J, Paz-Ares, L, Moreno, V, Cervantes, A, Calvo, M, Falcon, A, Gonzalez, A, Martinez Bueno, A, Garcia-Corbacho, J, Longo, F, Yen, C, Chen, J, Hou, M, Chao, Y, Rau, K, Chiu, T, Feng, Y, Hsu, C, Huang, W, Lai, K, Yeh, S, Palmer, D, Welsh, L, Plummer, R, Bilen, M, Arrowsmith, E, Spigel, D, Zandberg, D, Doroshow, D, Lu-Emerson, C, Moezi, M, Paulson, S, Ward, P, Chaves, J, Grigg, C, Hussein, A, Manda, S, Monticelli, M, Qamar, R, Richey, S, Tamura, D, Wilks, S, Pant S., Schuler M., Iyer G., Witt O., Doi T., Qin S., Tabernero J., Reardon D. A., Massard C., Minchom A., Lugowska I., Carranza O., Arnold D., Gutierrez M., Winter H., Stuyckens K., Crow L., Najmi S., Hammond C., Thomas S., Santiago-Walker A., Triantos S., Sweiti H., Loriot Y., Greco M. A., Coward J., Joshua A., Karapetis C., Hart C., Zhang A., Prenen H., Goeminne J. -C., Machiels J. -P., Rottey S., Corassa M., Molin G. Z. D., Tiscoski K., Jardim D. L. F., Mak M., Fu W., Yao H., Huang J., Jiang H., Chen B., Yan D., Yang Y., Le Tourneau C., Penel N., Salas S., Blay J. -Y., Brachet P. -E., Durando X., Emambux S., Ravaud A., Folprecht G., Ahrens M., Golf A., Haag G. M., Lordick F., Desuki A., Cazzaniga M., Ciardiello F., Milella M., Koyama T., Hirooka Y., Okamoto W., Aogi K., Kuboki Y., Lee J., Kim S. -B., Ahn M. -J., Chang J. H., Kim Y. -M., Nam D. -H., Park J. -S., Paz-Ares L., Moreno V., Cervantes A., Calvo M., Falcon A., Gonzalez A., Martinez Bueno A., Garcia-Corbacho J., Longo F., Yen C. -J., Chen J. -S., Hou M. -F., Chao Y., Rau K. -M., Chiu T. -J., Feng Y. -H., Hsu C. -H., Huang W. -T., Lai K. -M., Yeh S. -P., Palmer D., Welsh L., Plummer R., Bilen M., Arrowsmith E., Spigel D. R., Zandberg D. P., Doroshow D., Lu-Emerson C., Moezi M., Paulson S., Reardon D., Ward P., Chaves J., Grigg C., Hussein A., Manda S., Monticelli M., Qamar R., Richey S. L., Tamura D., and Wilks S.

Abstract

Background: FGFR alterations are reported across various malignancies and might act as oncogenic drivers in multiple histologies. Erdafitinib is an oral, selective pan-FGFR tyrosine kinase inhibitor with activity in FGFR-altered advanced urothelial carcinoma. We aimed to evaluate the safety and activity of erdafitinib in previously treated patients with FGFR-altered advanced solid tumours. Methods: The single-arm, phase 2 RAGNAR study was conducted at 156 investigative centres (hospitals or oncology practices that are qualified oncology study centres) across 15 countries. The study consisted of four cohorts based on tumour histology and patient age; the results reported in this Article are for the primary cohort of the study, defined as the Broad Panel Cohort, which was histology-agnostic. We recruited patients aged 12 years or older with advanced or metastatic tumours of any histology (except urothelial cancer) with predefined FGFR1–4 alterations (mutations or fusions according to local or central testing). Eligible patients had disease progression on at least one previous line of systemic therapy and no alternative standard therapy available to them, and an Eastern Cooperative Oncology Group performance status of 0–1 (or equivalent for adolescents aged 12–17 years). Patients received once-daily oral erdafitinib (8 mg/day with provision for pharmacodynamically guided up-titration to 9 mg/day) on a continuous 21-day cycle until disease progression or intolerable toxicity. The primary endpoint was objective response rate by independent review committee according to Response Evaluation Criteria In Solid Tumors (RECIST), version 1.1, or Response Assessment In Neuro-Oncology (RANO). The primary analysis was conducted on the treated population of the Broad Panel Cohort. This ongoing study is registered with ClinicalTrials.gov, number NCT04083976. Findings: Patients were recruited between Dec 5, 2019, and Feb 15, 2022. Of 217 patients treated with erdafitinib, 97 (45%) pa

Published
2023

31. Response to the letter ‘testing the effectiveness of MyPROSLE in classifying patients with lupus nephritis’

Author

Toro-Domínguez, Daniel, primary, Martorell-Marugán, Jordi, additional, Martinez-Bueno, Manuel, additional, López-Domínguez, Raúl, additional, Carnero-Montoro, Elena, additional, Barturen, Guillermo, additional, Goldman, Daniel, additional, Petri, Michelle, additional, Carmona-Sáez, Pedro, additional, and Alarcón-Riquelme, Marta E, additional

Published
2023
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33. Large scale, prospective screening of EGFR mutations in the blood of advanced NSCLC patients to guide treatment decisions

Author

Mayo-de-las-Casas, C., Jordana-Ariza, N., Garzón-Ibañez, M., Balada-Bel, A., Bertrán-Alamillo, J., Viteri-Ramírez, S., Reguart, N., Muñoz-Quintana, M.A., Lianes-Barragan, P., Camps, C., Jantús, E., Remon-Massip, J., Calabuig, S., Aguiar, D., Gil, M.L., Viñolas, N., Santos-Rodríguez, A.K., Majem, M., García-Peláez, B., Villatoro, S., Pérez-Rosado, A., Monasterio, J.C., Ovalle, E., Catalán, M.J., Campos, R., Morales-Espinosa, D., Martínez-Bueno, A., González-Cao, M., González, X., Moya-Horno, I., Sosa, A.E., Karachaliou, N., Rosell, R., and Molina-Vila, M.A.

Published
2017
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37. Erdafitinib in patients with advanced solid tumours with FGFR alterations (RAGNAR): an international, single-arm, phase 2 study

Author

Pant, Shubham, primary, Schuler, Martin, additional, Iyer, Gopa, additional, Witt, Olaf, additional, Doi, Toshihiko, additional, Qin, Shukui, additional, Tabernero, Josep, additional, Reardon, David A, additional, Massard, Christophe, additional, Minchom, Anna, additional, Lugowska, Iwona, additional, Carranza, Omar, additional, Arnold, Dirk, additional, Gutierrez, Martin, additional, Winter, Helen, additional, Stuyckens, Kim, additional, Crow, Lauren, additional, Najmi, Saltanat, additional, Hammond, Constance, additional, Thomas, Shibu, additional, Santiago-Walker, Ademi, additional, Triantos, Spyros, additional, Sweiti, Hussein, additional, Loriot, Yohann, additional, Greco, Martin Alberto, additional, Coward, Jim, additional, Joshua, Anthony, additional, Karapetis, Christos, additional, Hart, Christopher, additional, Zhang, Alison, additional, Prenen, Hans, additional, Goeminne, Jean-Charles, additional, Machiels, Jean-Pascal, additional, Rottey, Sylvie, additional, Corassa, Marcelo, additional, Molin, Graziela Zibetti Dal, additional, Tiscoski, Katsuki, additional, Jardim, Denis Leonardo Fontes, additional, Mak, Milena, additional, Fu, Wei, additional, Yao, Herui, additional, Huang, Jing, additional, Jiang, Haiping, additional, Chen, Baoshi, additional, Yan, Dong, additional, Yang, Yu, additional, Le Tourneau, Christophe, additional, Penel, Nicolas, additional, Salas, Sébastien, additional, Blay, Jean-Yves, additional, Brachet, Pierre-Emmanuel, additional, Durando, Xavier, additional, Emambux, Sheik, additional, Ravaud, Alain, additional, Folprecht, Gunnar, additional, Ahrens, Marit, additional, Golf, Alexander, additional, Haag, Georg Martin, additional, Lordick, Florian, additional, Desuki, Alexander, additional, Cazzaniga, Marina, additional, Ciardiello, Fortunato, additional, Milella, Michele, additional, Koyama, Takafumi, additional, Hirooka, Yoshiki, additional, Okamoto, Wataru, additional, Aogi, Kenjiro, additional, Kuboki, Yasutoshi, additional, Lee, Jungyun, additional, Kim, Sung-Bae, additional, Ahn, Myung-Ju, additional, Chang, Jong Hee, additional, Kim, Yong-Man, additional, Nam, Do-Hyun, additional, Park, Jae-Sung, additional, Paz-Ares, Luis, additional, Moreno, Victor, additional, Cervantes, Andres, additional, Calvo, Mariona, additional, Falcon, Alejandro, additional, Gonzalez, Antonio, additional, Martinez Bueno, Alejandro, additional, García-Corbacho, Javier, additional, Longo, Federico, additional, Yen, Chia-Jui, additional, Chen, Jen-Shi, additional, Hou, Ming-Feng, additional, Chao, Yee, additional, Rau, Kun-Ming, additional, Chiu, Tai-Jan, additional, Feng, Yin-Hsun, additional, Hsu, Chih-Hung, additional, Huang, Wen-Tsung, additional, Lai, Kuan-Ming, additional, Yeh, Su-peng, additional, Palmer, Daniel, additional, Welsh, Liam, additional, Plummer, Ruth, additional, Iyer, Gopakumar, additional, Bilen, Mehmet, additional, Arrowsmith, Edward, additional, Pant, Shubham, additional, Spigel, David Robert, additional, Zandberg, Dan Paul, additional, Doroshow, Deborah, additional, Lu-Emerson, Christine, additional, Moezi, Mehdi, additional, Paulson, Scott, additional, Reardon, David, additional, Ward, Patrick, additional, Chaves, Jorge, additional, Grigg, Claud, additional, Hussein, Atif, additional, Manda, Sudhir, additional, Monticelli, Michael, additional, Qamar, Rubina, additional, Richey, Stephen L, additional, Tamura, David, additional, and Wilks, Sharon, additional

Published
2023
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38. Epigenome-Wide Comparative Study Reveals Key Differences Between Mixed Connective Tissue Disease and Related Systemic Autoimmune Diseases

Author

Elena Carnero-Montoro, Guillermo Barturen, Elena Povedano, Martin Kerick, Manuel Martinez-Bueno, PRECISESADS Clinical Consortium, Esteban Ballestar, Javier Martin, María Teruel, and Marta E. Alarcón-Riquelme

Subjects
mixed connective tissue disease, systemic autoimmunity, genome-wide DNA methylation, epigenetics, interferon, meQTL, Immunologic diseases. Allergy, RC581-607
Abstract

Mixed Connective Tissue Disease (MCTD) is a rare complex systemic autoimmune disease (SAD) characterized by the presence of increased levels of anti-U1 ribonucleoprotein autoantibodies and signs and symptoms that resemble other SADs such as systemic sclerosis (SSc), rheumatoid arthritis (RA), and systemic lupus erythematosus (SLE). Due to its low prevalence, this disease has been very poorly studied at the molecular level. We performed for the first time an epigenome-wide association study interrogating DNA methylation data obtained with the Infinium MethylationEPIC array from whole blood samples in 31 patients diagnosed with MCTD and 255 healthy subjects. We observed a pervasive hypomethylation involving 170 genes enriched for immune-related function such as those involved in type I interferon signaling pathways or in negative regulation of viral genome replication. We mostly identified epigenetic signals at genes previously implicated in other SADs, for example MX1, PARP9, DDX60, or IFI44L, for which we also observed that MCTD patients exhibit higher DNA methylation variability compared with controls, suggesting that these sites might be involved in plastic immune responses that are relevant to the disease. Through methylation quantitative trait locus (meQTL) analysis we identified widespread local genetic effects influencing DNA methylation variability at MCTD-associated sites. Interestingly, for IRF7, IFI44 genes, and the HLA region we have evidence that they could be exerting a genetic risk on MCTD mediated through DNA methylation changes. Comparison of MCTD-associated epigenome with patients diagnosed with SLE, or Sjögren's Syndrome, reveals a common interferon-related epigenetic signature, however we find substantial epigenetic differences when compared with patients diagnosed with rheumatoid arthritis and systemic sclerosis. Furthermore, we show that MCTD-associated CpGs are potential epigenetic biomarkers with high diagnostic value. Our study serves to reveal new genes and pathways involved in MCTD, to illustrate the important role of epigenetic modifications in MCTD pathology, in mediating the interaction between different genetic and environmental MCTD risk factors, and as potential biomarkers of SADs.

Published
2019
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41. Response to the letter 'testing the effectiveness of MyPROSLE in classifying patients with lupus nephritis'.

Author

Toro-Domínguez, Daniel, Martorell-Marugán, Jordi, Martinez-Bueno, Manuel, López-Domínguez, Raúl, Carnero-Montoro, Elena, Barturen, Guillermo, Goldman, Daniel, Petri, Michelle, Carmona-Sáez, Pedro, and Alarcón-Riquelme, Marta E

Subjects
LUPUS nephritis, MACHINE learning
Abstract

The article is a response to a letter discussing the effectiveness of a web application called MyPROSLE in classifying patients with lupus nephritis. The authors clarify that MyPROSLE is meant to provide additional information for clinical decisions, not replace standard diagnostic procedures. They address concerns raised in the letter and provide detailed explanations and analysis of MyPROSLE's performance. The authors also discuss the impact of incorporating healthy samples in the analysis and highlight the need for considering multiple performance metrics. They emphasize that MyPROSLE should only be used for research purposes and provide data availability and funding information. [Extracted from the article]

Published
2024
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42. Fluorescence In Situ Hybridization (FISH) for the Characterization and Monitoring of Primary Cultures from Human Tumors

Author

Román-Lladó, Ruth, primary, Aguado, Cristina, additional, Jordana-Ariza, Núria, additional, Roca-Arias, Jaume, additional, Rodríguez, Sonia, additional, Aldeguer, Erika, additional, Garzón-Ibañez, Mónica, additional, García-Peláez, Beatriz, additional, Vives-Usano, Marta, additional, Giménez-Capitán, Ana, additional, Aguilar, Andrés, additional, Martinez-Bueno, Alejandro, additional, Cao, María Gonzalez, additional, García-Casabal, Florencia, additional, Viteri, Santiago, additional, Mayo de las Casas, Clara, additional, Rosell, Rafael, additional, and Molina-Vila, Miguel Angel, additional

Published
2023
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44. Trastuzumab deruxtecan in patients with central nervous system involvement from HER2-positive breast cancer: The DEBBRAH trial

Author

José Manuel Pérez-García, Marta Vaz Batista, Patricia Cortez, Manuel Ruiz-Borrego, Juan Miguel Cejalvo, Juan de la Haba-Rodriguez, Laia Garrigós, Fabricio Racca, Sonia Servitja, Salvador Blanch, María Gion, Monica Nave, María Fernández-Abad, Alejandro Martinez-Bueno, Antonio Llombart-Cussac, Miguel Sampayo-Cordero, Andrea Malfettone, Javier Cortés, and Sofía Braga

Subjects
advanced breast cancer, Central Nervous System, Cancer Research, Receptor, ErbB-2, Breast Neoplasms, Brain metastases, Trastuzumab, Antibodies, Monoclonal, Humanized, HER2-positive, T-DXd, trastuzumab deruxtecan, Oncology, brain metastases, Quality of Life, Humans, Female, Camptothecin, Trastuzumab deruxtecan, Advanced breast cancer, Neurology (clinical)
Abstract

Background Trastuzumab deruxtecan (T-DXd) has shown durable antitumor activity in pretreated patients with HER2-positive advanced breast cancer (ABC), but its efficacy has not yet been evaluated in patients with active brain metastases (BMs). DEBBRAH aims to assess T-DXd in patients with HER2-positive or HER2-low ABC and central nervous system involvement. Methods This ongoing, five-cohort, phase II study (NCT04420598) enrolled patients with pretreated HER2-positive or HER2-low ABC with stable, untreated, or progressing BMs, and/or leptomeningeal carcinomatosis. Here, we report findings from HER2-positive ABC patients with non-progressing BMs after local therapy (n = 8; cohort 1), asymptomatic untreated BMs (n = 4; cohort 2), or progressing BMs after local therapy (n = 9; cohort 3). Patients received 5.4 mg/kg T-DXd intravenously once every 21 days. The primary endpoint was 16-week progression-free survival (PFS) for cohort 1 and intracranial objective response rate (ORR-IC) for cohorts 2 and 3. Results As of October 20, 2021, 21 patients received T-DXd. In cohort 1, 16-week PFS rate was 87.5% (95%CI, 47.3-99.7; P < .001). ORR-IC was 50.0% (95%CI, 6.7-93.2) in cohort 2 and 44.4% (95%CI, 13.7-78.8; P < .001) in cohort 3. Overall, the ORR-IC in patients with active BMs was 46.2% (95%CI, 19.2-74.9). Among patients with measurable intracranial or extracranial lesions at baseline, the ORR was 66.7% (12 out of 18 patients; 95%CI, 41.0-86.7), 80.0% (95%CI, 28.4-99.5) in cohort 1, 50.0% (95%CI, 6.7-93.2) in cohort 2, and 66.7% (95%CI, 29.9-92.5) in cohort 3. All responders had partial responses. The most common adverse events included fatigue (52.4%; 4.8% grade ≥3), nausea (42.9%; 0% grade ≥3), neutropenia (28.6%; 19% grade ≥3), and constipation (28.6%; 0% grade ≥3). Two (9.5%) patients suffered grade 1 interstitial lung disease/pneumonitis. Conclusions T-DXd showed intracranial activity with manageable toxicity and maintained the quality of life in pretreated HER2-positive ABC patients with stable, untreated, or progressing BMs. Further studies are needed to validate these results in larger cohorts.

Published
2022
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45. A communal catalogue reveals Earths multiscale microbial diversity

Author

Thompson, Luke R., Sanders, Jon G., McDonald, Daniel, Amir, Amnon, Ladau, Joshua, Locey, Kenneth J., Prill, Robert J., Tripathi, Anupriya, Gibbons, Sean M., Ackermann, Gail, Navas-Molina, Jose A., Janssen, Stefan, Kopylova, Evguenia, Vzquez-Baeza, Yoshiki, Gonzlez, Antonio, Morton, James T., Mirarab, Siavash, Zech Xu, Zhenjiang, Jiang, Lingjing, Haroon, Mohamed F., Kanbar, Jad, Zhu, Qiyun, Jin Song, Se, Kosciolek, Tomasz, Bokulich, Nicholas A., Lefler, Joshua, Brislawn, Colin J., Humphrey, Gregory, Owens, Sarah M., Hampton-Marcell, Jarrad, Berg-Lyons, Donna, McKenzie, Valerie, Fierer, Noah, Fuhrman, Jed A., Clauset, Aaron, Stevens, Rick L., Shade, Ashley, Pollard, Katherine S., Goodwin, Kelly D., Jansson, Janet K., Gilbert, Jack A., Knight, Rob, Rivera, Jose L. Agosto, Al-Moosawi, Lisa, Alverdy, John, Amato, Katherine R., Andras, Jason, Angenent, Largus T., Antonopoulos, Dionysios A., Apprill, Amy, Armitage, David, Ballantine, Kate, Barta, Jiri, Baum, Julia K., Berry, Allison, Bhatnagar, Ashish, Bhatnagar, Monica, Biddle, Jennifer F., Bittner, Lucie, Boldgiv, Bazartseren, Bottos, Eric, Boyer, Donal M., Braun, Josephine, Brazelton, William, Brearley, Francis Q., Campbell, Alexandra H., Caporaso, J. Gregory, Cardona, Cesar, Carroll, JoLynn, Cary, S. Craig, Casper, Brenda B., Charles, Trevor C., Chu, Haiyan, Claar, Danielle C., Clark, Robert G., Clayton, Jonathan B., Clemente, Jose C., Cochran, Alyssa, Coleman, Maureen L., Collins, Gavin, Colwell, Rita R., Contreras, Monica, Crary, Benjamin B., Creer, Simon, Cristol, Daniel A., Crump, Byron C., Cui, Duoying, Daly, Sarah E., Davalos, Liliana, Dawson, Russell D., Defazio, Jennifer, Delsuc, Frederic, Dionisi, Hebe M., Dominguez-Bello, Maria Gloria, Dowell, Robin, Dubinsky, Eric A., Dunn, Peter O., Ercolini, Danilo, Espinoza, Robert E., Ezenwa, Vanessa, Fenner, Nathalie, Findlay, Helen S., Fleming, Irma D., Fogliano, Vincenzo, Forsman, Anna, Freeman, Chris, Friedman, Elliot S., Galindo, Giancarlo, Garcia, Liza, Garcia-Amado, Maria Alexandra, Garshelis, David, Gasser, Robin B., Gerdts, Gunnar, Gibson, Molly K., Gifford, Isaac, Gill, Ryan T., Giray, Tugrul, Gittel, Antje, Golyshin, Peter, Gong, Donglai, Grossart, Hans-Peter, Guyton, Kristina, Haig, Sarah-Jane, Hale, Vanessa, Hall, Ross Stephen, Hallam, Steven J., Handley, Kim M., Hasan, Nur A., Haydon, Shane R., Hickman, Jonathan E., Hidalgo, Glida, Hofmockel, Kirsten S., Hooker, Jeff, Hulth, Stefan, Hultman, Jenni, Hyde, Embriette, Ibanez-Alamo, Juan Diego, Jastrow, Julie D., Jex, Aaron R., Johnson, L. Scott, Johnston, Eric R., Joseph, Stephen, Jurburg, Stephanie D., Jurelevicius, Diogo, Karlsson, Anders, Karlsson, Roger, Kauppinen, Seth, Kellogg, Colleen T. E., Kennedy, Suzanne J., Kerkhof, Lee J., King, Gary M., Kling, George W., Koehler, Anson V., Krezalek, Monika, Kueneman, Jordan, Lamendella, Regina, Landon, Emily M., Lane-deGraaf, Kelly, LaRoche, Julie, Larsen, Peter, Laverock, Bonnie, Lax, Simon, Lentino, Miguel, Levin, Iris I., Liancourt, Pierre, Liang, Wenju, Linz, Alexandra M., Lipson, David A., Liu, Yongqin, Lladser, Manuel E., Lozada, Mariana, Spirito, Catherine M., MacCormack, Walter P., MacRae-Crerar, Aurora, Magris, Magda, Martin-Platero, Antonio M., Martin-Vivaldi, Manuel, Martinez, L. Margarita, Martinez-Bueno, Manuel, Marzinelli, Ezequiel M., Mason, Olivia U., Mayer, Gregory D., McDevitt-Irwin, Jamie M., McDonald, James E., McGuire, Krista L., McMahon, Katherine D., McMinds, Ryan, Medina, Monica, Mendelson, Joseph R., Metcalf, Jessica L., Meyer, Folker, Michelangeli, Fabian, Miller, Kim, Mills, David A., Minich, Jeremiah, Mocali, Stefano, Moitinho-Silva, Lucas, Moore, Anni, Morgan-Kiss, Rachael M., Munroe, Paul, Myrold, David, Neufeld, Josh D., Ni, Yingying, Nicol, Graeme W., Nielsen, Shaun, Nissimov, Jozef I., Niu, Kefeng, Nolan, Matthew J., Noyce, Karen, OBrien, Sarah L., Okamoto, Noriko, Orlando, Ludovic, Castellano, Yadira Ortiz, Osuolale, Olayinka, Oswald, Wyatt, Parnell, Jacob, Peralta-Sanchez, Juan M., Petraitis, Peter, Pfister, Catherine, Pilon-Smits, Elizabeth, Piombino, Paola, Pointing, Stephen B., Pollock, F. Joseph, Potter, Caitlin, Prithiviraj, Bharath, Quince, Christopher, Rani, Asha, Ranjan, Ravi, Rao, Subramanya, Rees, Andrew P., Richardson, Miles, Riebesell, Ulf, Robinson, Carol, Rockne, Karl J., Rodriguezl, Selena Marie, Rohwer, Forest, Roundstone, Wayne, Safran, Rebecca J., Sangwan, Naseer, Sanz, Virginia, Schrenk, Matthew, Schrenzel, Mark D., Scott, Nicole M., Seger, Rita L., Seguin-Orlando, Andaine, Seldin, Lucy, Seyler, Lauren M., Shakhsheer, Baddr, Sheets, Gabriela M., Shen, Congcong, Shi, Yu, Shin, Hakdong, Shogan, Benjamin D., Shutler, Dave, Siegel, Jeffrey, Simmons, Steve, Sjoling, Sara, Smith, Daniel P., Soler, Juan J., Sperling, Martin, Steinberg, Peter D., Stephens, Brent, Stevens, Melita A., Taghavi, Safiyh, Tai, Vera, Tait, Karen, Tan, Chia L., Tas, Neslihan, Taylor, D. Lee, Thomas, Torsten, Timling, Ina, Turner, Benjamin L., Urich, Tim, Ursell, Luke K., van der Lelie, Daniel, Van Treuren, William, van Zwieten, Lukas, Vargas-Robles, Daniela, Thurber, Rebecca Vega, Vitaglione, Paola, Walker, Donald A., Walters, William A., Wang, Shi, Wang, Tao, Weaver, Tom, Webster, Nicole S., Wehrle, Beck, Weisenhorn, Pamela, Weiss, Sophie, Werner, Jeffrey J., West, Kristin, Whitehead, Andrew, Whitehead, Susan R., Whittingham, Linda A., Willerslev, Eske, Williams, Allison E., Wood, Stephen A., Woodhams, Douglas C., Yang, Yeqin, Zaneveld, Jesse, Zarraonaindia, Iratxe, Zhang, Qikun, and Zhao, Hongxia

Subjects
Observations, Environmental aspects, Biodiversity -- Observations -- Environmental aspects, Microbial colonies -- Environmental aspects, Biological diversity -- Observations -- Environmental aspects
Abstract

Author(s): Luke R. Thompson [1, 2, 3]; Jon G. Sanders [1]; Daniel McDonald [1]; Amnon Amir [1]; Joshua Ladau [4]; Kenneth J. Locey [5]; Robert J. Prill [6]; Anupriya Tripathi [...], Our growing awareness of the microbial worlds importance and diversity contrasts starkly with our limited understanding of its fundamental structure. Despite recent advances in DNA sequencing, a lack of standardized protocols and common analytical frameworks impedes comparisons among studies, hindering the development of global inferences about microbial life on Earth. Here we present a meta-analysis of microbial community samples collected by hundreds of researchers for the Earth Microbiome Project. Coordinated protocols and new analytical methods, particularly the use of exact sequences instead of clustered operational taxonomic units, enable bacterial and archaeal ribosomal RNA gene sequences to be followed across multiple studies and allow us to explore patterns of diversity at an unprecedented scale. The result is both a reference database giving global context to DNA sequence data and a framework for incorporating data from future studies, fostering increasingly complete characterization of Earths microbial diversity.

Published
2017
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46. Preening as a Vehicle for Key Bacteria in Hoopoes

Author

Martínez-García, Ángela, Soler, Juan J., Rodríguez-Ruano, Sonia M., Martínez-Bueno, Manuel, Martín-Platero, Antonio Manuel, Juárez-García, Natalia, and Martín-Vivaldi, Manuel

Published
2015

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