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1. Incidence and prognostic impact of U2AF1 mutations and other gene alterations in myelodysplastic neoplasms with isolated 20q deletion

Author

Martín I. Castillo, Villamón E. Ribate, Calabuig M. Muñoz, Sanz G. Santillana, Such E. Taboada, Mora E. Casterá, Calasanz M. J. Abinzano, Irigoyen A. Barranco, Collado R. Nieto, Vara M. Pampliega, M. L. Blanco, Álvarez S. deAndrés, Pérez J. deOteyza, Bernal T. delCastillo, Granada I. Font, Jerez A. Cayuela, M. Díez‐Campelo, Abellán R. Sánchez, Solano C. Vercet, Tormo M. Díaz, and Grupo Español de Síndromes Mielodisplásicos (GESMD)

Subjects
20q deletion, myelodysplastic neoplasms, prognosis, quantitative allele‐specific PCR, U2AF1 mutations, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282
Abstract

Abstract Background In myelodysplastic neoplasms (MDS), the 20q deletion [del(20q)] is a recurrent chromosomal abnormality that it has a high co‐occurrence with U2AF1 mutations. Nevertheless, the prognostic impact of U2AF1 in these MDS patients is uncertain and the possible clinical and/or prognostic differences between the mutation type and the mutational burden are also unknown. Methods Our study analyzes different molecular variables in 100 MDS patients with isolated del(20q). Results & Conclusions We describe the high incidence and negative prognostic impact of U2AF1 mutations and other alterations such as in ASXL1 gene to identify prognostic markers that would benefit patients to receive earlier treatment.

Published
2023
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2. Response to azacitidine in patients with chronic myelomonocytic leukemia according to overlap myelodysplastic/myeloproliferative neoplasms criteria

Author

Triguero, A., Xicoy, B., Zamora, L., Jiménez, MJ., García, O., Calabuig, M., Díaz-Beyá, M., Arzuaga, J., Ramos, F., Medina, A., Bernal, T., Talarn, C., Coll, R., Collado, R., Chen, T.Hua, Borrás, J., Brunet, S., Marchante, I., Marco, V., López-Cadenas, F., Calbacho, M., Simiele, A., Cortés, M., Cedena, MT., Pedreño, M., Aguilar, C., Pedró, C., Fernández, M., Stoica, C., Ribera, JM., and Sanz, G.

Published
2022
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3. Managing hematological cancer patients during the COVID-19 pandemic: an ESMO-EHA Interdisciplinary Expert Consensus

Author

Buske, C., Dreyling, M., Alvarez-Larrán, A., Apperley, J., Arcaini, L., Besson, C., Bullinger, L., Corradini, P., Giovanni Della Porta, M., Dimopoulos, M., D’Sa, S., Eich, H.T., Foà, R., Ghia, P., da Silva, M.G., Gribben, J., Hajek, R., Harrison, C., Heuser, M., Kiesewetter, B., Kiladjian, J.J., Kröger, N., Moreau, P., Passweg, J.R., Peyvandi, F., Rea, D., Ribera, J.-M., Robak, T., San-Miguel, J.F., Santini, V., Sanz, G., Sonneveld, P., von Lilienfeld-Toal, M., Wendtner, C., Pentheroudakis, G., and Passamonti, F.

Published
2022
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6. Therapy-related myelodysplastic syndromes deserve specific diagnostic sub-classification and risk-stratification—an approach to classification of patients with t-MDS

Author

Kuendgen, A., Nomdedeu, M., Tuechler, H., Garcia-Manero, G., Komrokji, R. S., Sekeres, M. A., Della Porta, M. G., Cazzola, M., DeZern, A. E., Roboz, G. J., Steensma, D. P., Van de Loosdrecht, A. A., Schlenk, R. F., Grau, J., Calvo, X., Blum, S., Pereira, A., Valent, P., Costa, D., Giagounidis, A., Xicoy, B., Döhner, H., Platzbecker, U., Pedro, C., Lübbert, M., Oiartzabal, I., Díez-Campelo, M., Cedena, M. T., Machherndl-Spandl, S., López-Pavía, M., Baldus, C. D., Martinez-de-Sola, M., Stauder, R., Merchan, B., List, A., Ganster, C., Schroeder, T., Voso, M. T., Pfeilstöcker, M., Sill, H., Hildebrandt, B., Esteve, J., Nomdedeu, B., Cobo, F., Haas, R., Sole, F., Germing, U., Greenberg, P. L., Haase, D., and Sanz, G.

Published
2021
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9. CO169 Pan-Stakeholder Core Outcome Set (COS) Definition for Hematological Malignancies in the Framework of the EU Project, Harmony: the Healthcare Alliance for Resourceful Medicine Offensive Against Neoplasms in Hematology

Author

Lang, K., primary, Bereczky, T., additional, Geissler, J., additional, Bolanos, N., additional, Morgan, K., additional, Plate, A., additional, Vallejo, A., additional, Wintrich, S., additional, York, N., additional, Loffelhardt, P., additional, Huntly, B., additional, Sonneveld, P., additional, Boccadoro, M., additional, Santini, V., additional, Popisilova, S., additional, Hochhaus, A., additional, Barbui, T., additional, Borchmann, P., additional, Buske, C., additional, Guillevic, Y., additional, Dawoud, D., additional, Sanz, G., additional, Hernandez Rivas, J.M., additional, de Waal, E., additional, Barbus, M., additional, Schulze-Rath, R., additional, and Bullinger, L., additional

Published
2023
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10. Effective-Hamiltonian parameters for \emph{ab initio} energy-level calculations of SrCl$_{2}$:Yb$^{2+}$ and CsCaBr$_{3}$:Yb$^{2+}$

Author

Salkeld, A. J., Reid, M. F., Wells, J. -P. R., Sanchez-Sanz, G., Seijo, L., and Barandiaran, Z.

Subjects
Condensed Matter - Materials Science, Physics - Chemical Physics
Abstract

Calculated energy levels from recent \emph{ab initio} studies of the electronic structure of SrCl$_{2}$:Yb$^{2+}$ and CsCaBr$_{3}$:Yb$^{2+}$ are fitted with a semi-empirical "crystal-field" Hamiltonian, which acts within the model space $4f^{14} + 4f^{13}5d + 4f^{13}6s$. Parameters are obtained for the minima of the potential-energy curves for each energy level and also for a range of anion-cation separations. The parameters are compared with published results parameters fitted to experimental data and to atomic calculations. The states with significant $4f^{13}6s$ character give a good approximation of the impurity-trapped exciton states that appear in the \emph{ab initio} calculations., Comment: Minor revision

Published
2013
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11. PVR Detachment Questionnaire: Part 3

Author

Ruiz-Casas, D., Armadá-Maresca, Felix, Lopez, F. Cabrera, Calzada, Jorge I., Parra, J. M. Cubero, Dhawahir-Scala, Felipe, Elgohary, Mostafa, Arjona, F. Espejo, Guijarro, F. Faus, Arevalo, B. Fernandez, Fernandez-Sanz, G., Garcia-Martinez, J. R., Falavarjani, Khalil Ghasemi, Gonzalez-Gonzalez, F., Kazaykin, Victor N., Koch, Philippe, Kusaka, Shunji, Lara-Medina, F. J., Lavaque, Alejandro J., Mango, Charles W., Salinero, J. Marticorena, Mura, Marco, Reus, J. Nadal, Natarajan, S., Jimeno, J. C. Pastor, Relimpio-Lopez, M. I., Tomic, Zoran, Veckeneer, Marc, Zarranz-Ventura, Javier, Spandau, Ulrich, editor, Tomic, Zoran, editor, and Ruiz-Casas, Diego, editor

Published
2018
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12. Video Cases

Author

Ruiz-Casas, D., Spandau, Ulrich, Armadá-Maresca, Felix, Cabrera Lopez, F., Calzada, Jorge I., Cubero Parra, J. M., Elgohary, Mostafa, Espejo Arjona, F., Faus Guijarro, F., Fernandez-Sanz, G., García-Martinez, J. R., Gonzalez-Gonzalez, F., Koch, Philippe, Lara-Medina, F. J., Marticorena Salinero, J., Nadal Reus, J., Relimpio-López, M. I., Tomic, Zoran, Veckeneer, Marc, Zarranz-Ventura, Javier, Spandau, Ulrich, editor, Tomic, Zoran, editor, and Ruiz-Casas, Diego, editor

Published
2018
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13. PVR Detachment Questionnaire: Part 1

Author

Ruiz-Casas, D., Armadá-Maresca, Felix, Lopez, F. Cabrera, Calzada, Jorge I., Parra, J. M. Cubero, Dhawahir-Scala, Felipe, Elgohary, Mostafa, Arjona, F. Espejo, Guijarro, F. Faus, Arevalo, B. Fernandez, Fernandez-Sanz, G., Garcia-Martinez, J. R., Falavarjani, Khalil Ghasemi, Gonzalez-Gonzalez, F., Kazaykin, Victor N., Koch, Philippe, Kusaka, Shunji, Lara-Medina, F. J., Lavaque, Alejandro J., Mango, Charles W., Salinero, J. Marticorena, Mura, Marco, Reus, J. Nadal, Natarajan, S., Jimeno, J. C. Pastor, Relimpio-Lopez, M. I., Tomic, Zoran, Veckeneer, Marc, Zarranz-Ventura, Javier, Spandau, Ulrich, editor, Tomic, Zoran, editor, and Ruiz-Casas, Diego, editor

Published
2018
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14. PVR Detachment Questionnaire: Part 2

Author

Ruiz-Casas, D., Armadá-Maresca, Felix, Lopez, F. Cabrera, Calzada, Jorge I., Parra, J. M. Cubero, Dhawahir-Scala, Felipe, Elgohary, Mostafa, Arjona, F. Espejo, Guijarro, F. Faus, Arevalo, B. Fernandez, Fernandez-Sanz, G., Garcia-Martinez, J. R., Falavarjani, Khalil Ghasemi, Gonzalez-Gonzalez, F., Kazaykin, Victor N., Koch, Philippe, Kusaka, Shunji, Lara-Medina, F. J., Lavaque, Alejandro J., Mango, Charles W., Salinero, J. Marticorena, Mura, Marco, Reus, J. Nadal, Natarajan, S., Jimeno, J. C. Pastor, Relimpio-Lopez, M. I., Tomic, Zoran, Veckeneer, Marc, Zarranz-Ventura, Javier, Spandau, Ulrich, editor, Tomic, Zoran, editor, and Ruiz-Casas, Diego, editor

Published
2018
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15. Vitreoretinal Surgeons Assess Surgical Cases: A Questionnaire

Author

Ruiz-Casas, D., Spandau, Ulrich, Armadá-Maresca, Felix, Lopez, F. Cabrera, Calzada, Jorge I., Parra, J. M. Cubero, Dhawahir-Scala, Felipe, Elgohary, Mostafa, Arjona, F. Espejo, Guijarro, F. Faus, Arevalo, B. Fernandez, Fernandez-Sanz, G., García-Martinez, J. R., Falavarjani, Khalil Ghasemi, Gonzalez-Gonzalez, F., Kazaykin, Victor N., Koch, Philippe, Kusaka, Shunji, Lara-Medina, F. J., Lavaque, Alejandro J., Mango, Charles W., Salinero, J. Marticorena, Mura, Marco, Reus, J. Nadal, Natarajan, S., Jimeno, J. C. Pastor, Relimpio-Lopez, M. I., Tomic, Zoran, Veckeneer, Marc, Zarranz-Ventura, Javier, Spandau, Ulrich, editor, Tomic, Zoran, editor, and Ruiz-Casas, Diego, editor

Published
2018
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16. Discovery and preclinical development of LY3473329, a potent small molecule inhibitor of lipoprotein(a) formation

Author

Michael, L, primary, Perez, C, additional, Lafuente, C, additional, Sanz, G, additional, Priego, J, additional, Escribano, A, additional, Calle, L, additional, Espinosa, J, additional, Sauder, M, additional, Priest, B, additional, Schultze, A, additional, Nosie, A, additional, Zhang, H, additional, Nicholls, S, additional, and Diaz, N, additional

Published
2023
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17. Dualities for Multi-State Probabilistic Cellular Automata

Author

Lopez, F. J., Sanz, G., and Sobottka, M.

Subjects
Mathematics - Probability, 60K35, 70G60, 82B41, 91D10, 92D25
Abstract

In this paper a new form of duality for probabilistic cellular automata (PCA) is introduced. Using this duality, an ergodicity result for processes having a dual is proved. Also, conditions on the probabilities defining the evolution of the processes for the existence of a dual are provided. The results are applied to wide classes of PCA which include multi-opinion voter models, competition models and the Domany-Kinzel model., Comment: 22 pages A new version in which the text and the proofs were revised in order to become correct and more accessible for the reader

Published
2006
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18. Pharmacological characterization of the peripheral FAAH inhibitor URB937 in female rodents: interaction with the Abcg2 transporter in the blood‐placenta barrier

Author

Moreno‐Sanz, G, Sasso, O, Guijarro, A, Oluyemi, O, Bertorelli, R, Reggiani, A, and Piomelli, D

Subjects
Neurosciences, ATP Binding Cassette Transporter, Subfamily G, Member 2, ATP-Binding Cassette Transporters, Acetic Acid, Amidohydrolases, Analgesics, Animals, Arachidonic Acids, Cannabinoids, Carrageenan, Endocannabinoids, Enzyme Inhibitors, Female, Gene Expression Regulation, Inflammation, Male, Mice, Mice, Inbred C57BL, Pain, Placenta, Polyunsaturated Alkamides, Pregnancy, Rats, Rats, Sprague-Dawley, Sex Characteristics, Tissue Distribution, fatty-acid amide hydrolase, URB937, Abcg2, blood-placental barrier, female, pain, Pharmacology and Pharmaceutical Sciences, Pharmacology & Pharmacy
Abstract

Background and purposeURB937 is a peripherally restricted inhibitor of the anandamide-deactivating enzyme fatty-acid amide hydrolase (FAAH). Despite its limited access to the CNS, URB937 produces marked antinociceptive effects in rodents. URB937 is actively extruded from the CNS by the ATP-binding cassette (ABC) membrane transporter, Abcg2. Tissue Abcg2 levels are markedly different between males and females, and this transporter is known to limit the access of xenobiotics to the fetoplacental unit in gestating female rodents. In the present study, we investigated the tissue distribution and antinociceptive properties of URB937 in female mice and rats.Experimental approachWe studied the systemic disposition of URB937 in female mice and the antinociceptive effects of this compound in models of visceral (acetic acid-induced writhing) and inflammatory nociception (carrageenan-induced hyperalgesia) in female mice and rats. Furthermore, we evaluated the interaction of URB937 with the blood-placenta barrier in gestating mice and rats.Key resultsAbcg2 restricted the access of URB937 to the CNS of female mice and rats. Nevertheless, URB937 produced a high degree of antinociception in female mice and rats in models of visceral and inflammatory pain. Moreover, the compound displayed a restricted access to placental and fetal tissues in pregnant mice and rats.Conclusions and implicationsPeripheral FAAH blockade with URB937 reduces nociception in female mice and rats, as previously shown for males of the same species. In female mice and rats, Abcg2 limits the access of URB937, not only to the CNS, but also to the fetoplacental unit. LINKED ARTICLES This article is part of a themed section on Cannabinoids. To view the other articles in this section visit http://dx.doi.org/10.1111/bph.2012.167.issue-8.

Published
2012

19. Familial component of early-onset colorectal cancer: opportunity for prevention

Author

Daca-Alvarez, M., Marti, M., Spinelli, A., Miranda, N.F.F.C. de, Palles, C., Vivas, A., Lachtford, A., Monahan, K., Szczepkowski, M., Tarnowski, W., Makkai-Popa, S.T., Vidal, R., Lopez, I., Hurtado, E., Jimenez, F., Jimenez-Toscano, M., Alvaro, E., Sanz, G., Ballestero, A., Melone, S., Brandariz, L., Prieto, I., Garcia-Olmo, D., Ocana, T., Moreira, R., Moreno, L., Carballal, S., Moreira, L., Pellise, M., Gonzalez-Sarmiento, R., Holowatyj, A.N., Perea, J., Balaguer, F., GEOCODE Consortium, SECOC Consortium, Instituto de Salud Carlos III, Generalitat de Catalunya, and Centro de Investigación Biomédica en Red Enfermedades Hepáticas y Digestivas (España)

Subjects
Humans, Surgery, Colonoscopy, Middle Aged, Colorectal Neoplasms, Endoscopy, Gastrointestinal
Abstract

[Background]: Individuals with a non-syndromic family history of colorectal cancer are known to have an increased risk. There is an opportunity to prevent early-onset colorectal cancer (age less than 50 years) (EOCRC) in this population. The aim was to explore the proportion of EOCRC that is preventable due to family history of colorectal cancer. [Methods]: This was a retrospective multicentre European study of patients with non-hereditary EOCRC. The impact of the European Society of Gastrointestinal Endoscopy (ESGE), U.S. Multi-Society Task Force (USMSTF), and National Comprehensive Cancer Network (NCCN) guidelines on prevention and early diagnosis was compared. Colorectal cancer was defined as potentially preventable if surveillance colonoscopy would have been performed at least 5 years before the age of diagnosis of colorectal cancer, and diagnosed early if colonoscopy was undertaken between 1 and 4 years before the diagnosis. [Results]: Some 903 patients with EOCRC were included. Criteria for familial colorectal cancer risk in ESGE, USMSTF, and NCCN guidelines were met in 6.3, 9.4, and 30.4 per cent of patients respectively. Based on ESGE, USMSTF, and NCCN guidelines, colorectal cancer could potentially have been prevented in 41, 55, and 30.3 per cent of patients, and diagnosed earlier in 11, 14, and 21.1 per cent respectively. In ESGE guidelines, if surveillance had started 10 years before the youngest relative, there would be a significant increase in prevention (41 versus 55 per cent; P = 0.010). [Conclusion]: ESGE, USMSTF, and NCCN criteria for familial colorectal cancer were met in 6.3, 9.4, and 30.4 per cent of patients with EOCRC respectively. In these patients, early detection and/or prevention could be achieved in 52, 70, and 51.4 per cent respectively. Early and accurate identification of familial colorectal cancer risk and increase in the uptake of early colonoscopy are key to decreasing familial EOCRC., This study was funded by Instituto de Salud Carlos III through project PI20/0974 to J.P and PI19/01867 to F.B. (co-funded by European Regional Development Fund ‘A way to make Europe’); and Agència de Gestió d’Ajuts Universitaris i de Recerca (Generalitat de Catalunya, GRC 2017SGR653). Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas is funded by the Instituto de Salud Carlos III.

Published
2022

20. Topic: AS08-Treatment/AS08f-Clinical trials – Phase II-III: RANDOMIZED PHASE 2 STUDY TO ASSESS SAFETY AND EFFICACY OF LOW-DOSE (LD) ORAL DECITABINE/CEDAZURIDINE (ASTX727) IN LOWER-RISK MYELODYSPLASTIC SYNDROMES (LR-MDS) PATIENTS: INTERIM SAFETY ANALYSIS

Author

Garcia-Manero, G., primary, Bachiashvili, K., additional, Griffiths, E., additional, Traer, E., additional, Saini, L., additional, Amin, H., additional, Zeidan, A., additional, Mohan, S., additional, Lübbert, M., additional, Maness, L., additional, Foran, J., additional, Selleslag, D., additional, Xicoy, B., additional, Pollyea, D., additional, Sallman, D., additional, Al-Kali, A., additional, Berdeja, J., additional, Al-Ali, H., additional, Zhu, N., additional, Lopez, P. Font, additional, Sanz, G., additional, Santini, V., additional, Yimer, H., additional, Cripe, L., additional, Priego, V., additional, Odenike, O., additional, Heyrman, B., additional, Valcárcel, D., additional, Vachhani, P., additional, Sano, Y., additional, Mirakhur, B., additional, Oganesian, A., additional, Keer, H., additional, and Yacoub, A., additional

Published
2023
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21. Topic: AS06-Prognosis/AS06a-Prognostic factors of outcome and risk assessment: A STEP TOWARDS IDENTIFICATION AND CAUSAL INTERPRETATION OF THERAPY-RELATED MDS (T-MDS)

Author

Kuendgen, A., primary, Nomdedeu, M., additional, Tuechler, H., additional, Garcia-Manero, G., additional, Komrokji, R., additional, Sekeres, M., additional, Della Porta, M., additional, Cazzola, M., additional, Dezern, A., additional, Roboz, G., additional, Steensma, D., additional, Van De Loosdrecht, A., additional, Malcovati, L., additional, Schlenk, R., additional, Grau, J., additional, Calvo, X., additional, Blum, S., additional, Pereira, A., additional, Valent, P., additional, Costa, D., additional, Giagounidis, A., additional, Xicoy, B., additional, Döhner, H., additional, Platzbecker, U., additional, Pedro, C., additional, Lübbert, M., additional, Oiartzabal, I., additional, Diez-Campelo, M., additional, Cedena, M.T., additional, Machherndl-Spandl, S., additional, Lopez-Pavia, M., additional, Martinez-De-Sola, M., additional, Stauder, R., additional, Merchan, B., additional, Ganster, C., additional, Schroeder, T., additional, Voso, M.T., additional, Pfeilstöcker, M., additional, Sill, H., additional, Hildebrandt, B., additional, Esteve, J., additional, Cobo, F., additional, Solé, F., additional, Germing, U., additional, Greenberg, P., additional, Haase, D., additional, and Sanz, G., additional

Published
2023
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22. Topic: AS06-Prognosis/AS06a-Prognostic factors of outcome and risk assessment: ACCELERATED FAILURE TIME MODELS AS A CLINICALLY PLAUSIBLE WAY TO DESCRIBE SURVIVAL IN MDS – AN ANALYSIS OF THE IWG-PM DATABASE

Author

Pfeilstöcker, M., primary, Tuechler, H., additional, Ades, L., additional, Cermak, J., additional, Chermat, F., additional, Della Porta, M., additional, Fenaux, P., additional, Garcia-Manero, G., additional, Germing, U., additional, Haase, D., additional, Kündgen, A., additional, Lübbert, M., additional, Magalhaes, S., additional, Malcovati, L., additional, Miyazaki, Y., additional, Sanz, G., additional, Santini, V., additional, Sekeres, M., additional, Walter, M., additional, Valent, P., additional, and Greenberg, P., additional

Published
2023
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23. Topic: AS01-Diagnosis/AS01c-Molecular aberrations (cytogenetic, genetic, gene expression): GENOMIC CLASSIFICATION OF MYELODYSPLASTIC SYNDROMES

Author

Bernard, E., primary, Hasserjian, R., additional, Greenberg, P., additional, Ossa, J. Arango, additional, Creignou, M., additional, Nannya, Y., additional, Tuechler, H., additional, Medina-Martinez, J., additional, Levine, M., additional, Jädersten, M., additional, Germing, U., additional, Sanz, G., additional, Van De Loosdrecht, A., additional, Kosmider, O., additional, Follo, M., additional, Thol, F., additional, Zamora, L., additional, Pinheiro, R., additional, Pellagatti, A., additional, Elias, H., additional, Haase, D., additional, Ganster, C., additional, Ades, L., additional, Tobiasson, M., additional, Palomo, L., additional, Della Porta, M., additional, Fenaux, P., additional, Belickova, M., additional, Savona, M., additional, Klimek, V., additional, Santos, F., additional, Boultwood, J., additional, Kotsianidis, I., additional, Santini, V., additional, Solé, F., additional, Platzbecker, U., additional, Heuser, M., additional, Valent, P., additional, Finelli, C., additional, Voso, M.T., additional, Shih, L.-Y., additional, Fontenay, M., additional, Jansen, J., additional, Cervera-Zamora, J., additional, Gattermann, N., additional, Ebert, B., additional, Bejar, R., additional, Malcovati, L., additional, Cazzola, M., additional, Ogawa, S., additional, Hellstrom-Lindberg, E., additional, and Papaemmanuil, E., additional

Published
2023
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24. Cause of death and excess mortality in patients with lower-risk myelodysplastic syndromes (MDS): A report from the European MDS registry.

Author

Mądry, K., Lis, K., Fenaux, P., Bowen, D., Symeonidis, A., Mittelman, M., Stauder, R., Čermák, J., Sanz, G., Hellström-Lindberg, E., Langemeijer, S.M.C., Malcovati, L., Germing, U., Holm, M.S., Guerci-Bresler, A., Culligan, D., Sanhes, L., Kotsianidis, I., Marrewijk, C. van, Crouch, S., Witte, T.J. de, Smith, A, Mądry, K., Lis, K., Fenaux, P., Bowen, D., Symeonidis, A., Mittelman, M., Stauder, R., Čermák, J., Sanz, G., Hellström-Lindberg, E., Langemeijer, S.M.C., Malcovati, L., Germing, U., Holm, M.S., Guerci-Bresler, A., Culligan, D., Sanhes, L., Kotsianidis, I., Marrewijk, C. van, Crouch, S., Witte, T.J. de, and Smith, A

Abstract

01 februari 2023, Item does not contain fulltext, Information on causes of death (CoDs) and the impact of myelodysplastic syndromes (MDS) on survival in patients with lower-risk MDS (LR-MDS) is limited. A better understanding of the relationship between disease characteristics, clinical interventions and CoDs may improve outcomes of patients with LR-MDS. We prospectively collected data on patients with LR-MDS in the European MDS registry from 2008 to 2019. Clinical, laboratory and CoDs data were obtained. To examine MDS-specific survival, relative survival (RS) was estimated using national life tables. Of 2396 evaluated subjects, 900 died (median overall survival [OS]: 4.7 years; median follow-up: 3.5 years). The most common CoDs were acute myeloid leukaemia/MDS (20.1%), infection (17.8%) and cardiovascular disease (CVD; 9.8%). Patients with isolated del(5q) and with red cell transfusion needed during the disease course, had a higher risk of fatal CVD. The 5-year OS was 47.3% and the 5-year RS was 59.6%, indicating that most patients died due to their underlying MDS. Older patients (aged >80 years) and the lowest-risk patients were more likely to die from competing causes. This study shows that MDS and its related complications play crucial role in the outcome of patients with LR-MDS.

Published
2023

25. Consensus proposal for revised International Working Group 2023 response criteria for higher-risk myelodysplastic syndromes.

Author

Zeidan, A.M., Platzbecker, U., Bewersdorf, J.P., Stahl, M., Adès, L., Borate, U., Bowen, D., Buckstein, R., Brunner, A., Carraway, H.E., Daver, N., Díez-Campelo, M., Witte, T.J. de, DeZern, A.E., Efficace, F., Garcia-Manero, G., Garcia, J.S., Germing, U., Giagounidis, A., Griffiths, E.A., Hasserjian, R.P., Hellström-Lindberg, E., Iastrebner, M., Komrokji, R., Kulasekararaj, A.G., Malcovati, L., Miyazaki, Y., Odenike, O., Santini, V., Sanz, G., Scheinberg, P., Stauder, R., Loosdrecht, A.A. van de, Wei, A.H., Sekeres, M.A., Fenaux, P., Zeidan, A.M., Platzbecker, U., Bewersdorf, J.P., Stahl, M., Adès, L., Borate, U., Bowen, D., Buckstein, R., Brunner, A., Carraway, H.E., Daver, N., Díez-Campelo, M., Witte, T.J. de, DeZern, A.E., Efficace, F., Garcia-Manero, G., Garcia, J.S., Germing, U., Giagounidis, A., Griffiths, E.A., Hasserjian, R.P., Hellström-Lindberg, E., Iastrebner, M., Komrokji, R., Kulasekararaj, A.G., Malcovati, L., Miyazaki, Y., Odenike, O., Santini, V., Sanz, G., Scheinberg, P., Stauder, R., Loosdrecht, A.A. van de, Wei, A.H., Sekeres, M.A., and Fenaux, P.

Abstract

Item does not contain fulltext, Myelodysplastic syndromes/myelodysplastic neoplasms (MDS) are associated with variable clinical presentations and outcomes. The initial response criteria developed by the International Working Group (IWG) in 2000 have been used in clinical practice, clinical trials, regulatory reviews, and drug labels. Although the IWG criteria were revised in 2006 and 2018 (the latter focusing on lower-risk disease), limitations persist in their application to higher-risk MDS (HR-MDS) and their ability to fully capture the clinical benefits of novel investigational drugs or serve as valid surrogates for longer-term clinical end points (eg, overall survival). Further, issues related to the ambiguity and practicality of some criteria lead to variability in interpretation and interobserver inconsistency in reporting results from the same sets of data. Thus, we convened an international panel of 36 MDS experts and used an established modified Delphi process to develop consensus recommendations for updated response criteria that would be more reflective of patient-centered and clinically relevant outcomes in HR-MDS. Among others, the IWG 2023 criteria include changes in the hemoglobin threshold for complete remission (CR), the introduction of CR with limited count recovery and CR with partial hematologic recovery as provisional response criteria, the elimination of marrow CR, and specific recommendations for the standardization of time-to-event end points and the derivation and reporting of responses. The updated criteria should lead to a better correlation between patient-centered outcomes and clinical trial results in an era of multiple emerging new agents with novel mechanisms of action.

Published
2023

26. Real-World Validation of Molecular International Prognostic Scoring System for Myelodysplastic Syndromes

Author

Sauta, E, Robin, M, Bersanelli, M, Travaglino, E, Meggendorfer, M, Zhao, L, Caballero Berrocal, J, Sala, C, Maggioni, G, Bernardi, M, Di Grazia, C, Vago, L, Rivoli, G, Borin, L, D'Amico, S, Tentori, C, Ubezio, M, Campagna, A, Russo, A, Mannina, D, Lanino, L, Chiusolo, P, Giaccone, L, Voso, M, Riva, M, Oliva, E, Zampini, M, Riva, E, Nibourel, O, Bicchieri, M, Bolli, N, Rambaldi, A, Passamonti, F, Savevski, V, Santoro, A, Germing, U, Kordasti, S, Santini, V, Diez-Campelo, M, Sanz, G, Sole, F, Kern, W, Platzbecker, U, Ades, L, Fenaux, P, Haferlach, T, Castellani, G, Della Porta, M, Sauta, Elisabetta, Robin, Marie, Bersanelli, Matteo, Travaglino, Erica, Meggendorfer, Manja, Zhao, Lin-Pierre, Caballero Berrocal, Juan Carlos, Sala, Claudia, Maggioni, Giulia, Bernardi, Massimo, Di Grazia, Carmen, Vago, Luca, Rivoli, Giulia, Borin, Lorenza, D'Amico, Saverio, Tentori, Cristina Astrid, Ubezio, Marta, Campagna, Alessia, Russo, Antonio, Mannina, Daniele, Lanino, Luca, Chiusolo, Patrizia, Giaccone, Luisa, Voso, Maria Teresa, Riva, Marta, Oliva, Esther Natalie, Zampini, Matteo, Riva, Elena, Nibourel, Olivier, Bicchieri, Marilena, Bolli, Niccolo', Rambaldi, Alessandro, Passamonti, Francesco, Savevski, Victor, Santoro, Armando, Germing, Ulrich, Kordasti, Shahram, Santini, Valeria, Diez-Campelo, Maria, Sanz, Guillermo, Sole, Francesc, Kern, Wolfgang, Platzbecker, Uwe, Ades, Lionel, Fenaux, Pierre, Haferlach, Torsten, Castellani, Gastone, Della Porta, Matteo Giovanni, Sauta, E, Robin, M, Bersanelli, M, Travaglino, E, Meggendorfer, M, Zhao, L, Caballero Berrocal, J, Sala, C, Maggioni, G, Bernardi, M, Di Grazia, C, Vago, L, Rivoli, G, Borin, L, D'Amico, S, Tentori, C, Ubezio, M, Campagna, A, Russo, A, Mannina, D, Lanino, L, Chiusolo, P, Giaccone, L, Voso, M, Riva, M, Oliva, E, Zampini, M, Riva, E, Nibourel, O, Bicchieri, M, Bolli, N, Rambaldi, A, Passamonti, F, Savevski, V, Santoro, A, Germing, U, Kordasti, S, Santini, V, Diez-Campelo, M, Sanz, G, Sole, F, Kern, W, Platzbecker, U, Ades, L, Fenaux, P, Haferlach, T, Castellani, G, Della Porta, M, Sauta, Elisabetta, Robin, Marie, Bersanelli, Matteo, Travaglino, Erica, Meggendorfer, Manja, Zhao, Lin-Pierre, Caballero Berrocal, Juan Carlos, Sala, Claudia, Maggioni, Giulia, Bernardi, Massimo, Di Grazia, Carmen, Vago, Luca, Rivoli, Giulia, Borin, Lorenza, D'Amico, Saverio, Tentori, Cristina Astrid, Ubezio, Marta, Campagna, Alessia, Russo, Antonio, Mannina, Daniele, Lanino, Luca, Chiusolo, Patrizia, Giaccone, Luisa, Voso, Maria Teresa, Riva, Marta, Oliva, Esther Natalie, Zampini, Matteo, Riva, Elena, Nibourel, Olivier, Bicchieri, Marilena, Bolli, Niccolo', Rambaldi, Alessandro, Passamonti, Francesco, Savevski, Victor, Santoro, Armando, Germing, Ulrich, Kordasti, Shahram, Santini, Valeria, Diez-Campelo, Maria, Sanz, Guillermo, Sole, Francesc, Kern, Wolfgang, Platzbecker, Uwe, Ades, Lionel, Fenaux, Pierre, Haferlach, Torsten, Castellani, Gastone, and Della Porta, Matteo Giovanni

Abstract

Purpose: Myelodysplastic syndromes (MDS) are heterogeneous myeloid neoplasms in which a risk-adapted treatment strategy is needed. Recently, a new clinical-molecular prognostic model, the Molecular International Prognostic Scoring System (IPSS-M) was proposed to improve the prediction of clinical outcome of the currently available tool (Revised International Prognostic Scoring System [IPSS-R]). We aimed to provide an extensive validation of IPSS-M. Methods: A total of 2,876 patients with primary MDS from the GenoMed4All consortium were retrospectively analyzed. Results: IPSS-M improved prognostic discrimination across all clinical end points with respect to IPSS-R (concordance was 0.81 v 0.74 for overall survival and 0.89 v 0.76 for leukemia-free survival, respectively). This was true even in those patients without detectable gene mutations. Compared with the IPSS-R based stratification, the IPSS-M risk group changed in 46% of patients (23.6% and 22.4% of subjects were upstaged and downstaged, respectively).In patients treated with hematopoietic stem cell transplantation (HSCT), IPSS-M significantly improved the prediction of the risk of disease relapse and the probability of post-transplantation survival versus IPSS-R (concordance was 0.76 v 0.60 for overall survival and 0.89 v 0.70 for probability of relapse, respectively). In high-risk patients treated with hypomethylating agents (HMA), IPSS-M failed to stratify individual probability of response; response duration and probability of survival were inversely related to IPSS-M risk.Finally, we tested the accuracy in predicting IPSS-M when molecular information was missed and we defined a minimum set of 15 relevant genes associated with high performance of the score. Conclusion: IPSS-M improves MDS prognostication and might result in a more effective selection of candidates to HSCT. Additional factors other than gene mutations can be involved in determining HMA sensitivity. The definition of a minimum set of relevan

Published
2023

27. A sex-informed approach to improve the personalised decision making process in myelodysplastic syndromes: a multicentre, observational cohort study

Author

Maggioni, G, Bersanelli, M, Travaglino, E, Alfonso Piérola, A, Kasprzak, A, Sangerman Montserrat, A, Sauta, E, Sala, C, Matteuzzi, T, Meggendorfer, M, Gnocchi, M, Zhao, L, Astrid Tentori, C, Nachtkamp, K, Dall'Olio, D, Mosca, E, Ubezio, M, Campagna, A, Russo, A, Rivoli, G, Bernardi, M, Borin, L, Teresa Voso, M, Riva, M, Oliva, E, Zampini, M, Riva, E, Saba, E, D'Amico, S, Lanino, L, Tinterri, B, Re, F, Bicchieri, M, Giordano, L, Angelotti, G, Morandini, P, Sophie Kubasch, A, Passamonti, F, Rambaldi, A, Savevski, V, Santoro, A, A van de Loosdrecht, A, Brogi, A, Santini, V, Kordasti, S, Sanz, G, Sole, F, Gattermann, N, Kern, W, Platzbecker, U, Ades, L, Fenaux, P, Haferlach, T, Castellani, G, Germing, U, Diez-Campelo, M, G Della Porta, M, Giulia Maggioni, Matteo Bersanelli, Erica Travaglino, Ana Alfonso Piérola, Annika Kasprzak, Arnan Sangerman Montserrat, Elisabetta Sauta, Claudia Sala, Tommaso Matteuzzi, Manja Meggendorfer, Matteo Gnocchi, Lin-Pierre Zhao, Cristina Astrid Tentori, Kathrin Nachtkamp, Daniele Dall'Olio, Ettore Mosca, Marta Ubezio, Alessia Campagna, Antonio Russo, Giulia Rivoli, Massimo Bernardi, Lorenza Borin, Maria Teresa Voso, Marta Riva, Esther Oliva, Matteo Zampini, Elena Riva, Elena Saba, Saverio D'Amico, Luca Lanino, Benedetta Tinterri, Francesca Re, Marilena Bicchieri, Laura Giordano, Giovanni Angelotti, Pierandrea Morandini, Anne Sophie Kubasch, Francesco Passamonti, Alessandro Rambaldi, Victor Savevski, Armando Santoro, Arjan A van de Loosdrecht, Alice Brogi, Valeria Santini, Shahram Kordasti, Guillermo Sanz, Francesc Sole, Norbert Gattermann, Wolfgang Kern, Uwe Platzbecker, Lionel Ades, Pierre Fenaux, Torsten Haferlach, Gastone Castellani, Ulrich Germing, Maria Diez-Campelo, Matteo G Della Porta, Maggioni, G, Bersanelli, M, Travaglino, E, Alfonso Piérola, A, Kasprzak, A, Sangerman Montserrat, A, Sauta, E, Sala, C, Matteuzzi, T, Meggendorfer, M, Gnocchi, M, Zhao, L, Astrid Tentori, C, Nachtkamp, K, Dall'Olio, D, Mosca, E, Ubezio, M, Campagna, A, Russo, A, Rivoli, G, Bernardi, M, Borin, L, Teresa Voso, M, Riva, M, Oliva, E, Zampini, M, Riva, E, Saba, E, D'Amico, S, Lanino, L, Tinterri, B, Re, F, Bicchieri, M, Giordano, L, Angelotti, G, Morandini, P, Sophie Kubasch, A, Passamonti, F, Rambaldi, A, Savevski, V, Santoro, A, A van de Loosdrecht, A, Brogi, A, Santini, V, Kordasti, S, Sanz, G, Sole, F, Gattermann, N, Kern, W, Platzbecker, U, Ades, L, Fenaux, P, Haferlach, T, Castellani, G, Germing, U, Diez-Campelo, M, G Della Porta, M, Giulia Maggioni, Matteo Bersanelli, Erica Travaglino, Ana Alfonso Piérola, Annika Kasprzak, Arnan Sangerman Montserrat, Elisabetta Sauta, Claudia Sala, Tommaso Matteuzzi, Manja Meggendorfer, Matteo Gnocchi, Lin-Pierre Zhao, Cristina Astrid Tentori, Kathrin Nachtkamp, Daniele Dall'Olio, Ettore Mosca, Marta Ubezio, Alessia Campagna, Antonio Russo, Giulia Rivoli, Massimo Bernardi, Lorenza Borin, Maria Teresa Voso, Marta Riva, Esther Oliva, Matteo Zampini, Elena Riva, Elena Saba, Saverio D'Amico, Luca Lanino, Benedetta Tinterri, Francesca Re, Marilena Bicchieri, Laura Giordano, Giovanni Angelotti, Pierandrea Morandini, Anne Sophie Kubasch, Francesco Passamonti, Alessandro Rambaldi, Victor Savevski, Armando Santoro, Arjan A van de Loosdrecht, Alice Brogi, Valeria Santini, Shahram Kordasti, Guillermo Sanz, Francesc Sole, Norbert Gattermann, Wolfgang Kern, Uwe Platzbecker, Lionel Ades, Pierre Fenaux, Torsten Haferlach, Gastone Castellani, Ulrich Germing, Maria Diez-Campelo, and Matteo G Della Porta

Abstract

BACKGROUND: Sex is a major source of diversity among patients and a sex-informed approach is becoming a new paradigm in precision medicine. We aimed to describe sex diversity in myelodysplastic syndromes in terms of disease genotype, phenotype, and clinical outcome. Moreover, we sought to incorporate sex information into the clinical decision-making process as a fundamental component of patient individuality. METHODS: In this multicentre, observational cohort study, we retrospectively analysed 13 284 patients aged 18 years or older with a diagnosis of myelodysplastic syndrome according to 2016 WHO criteria included in the EuroMDS network (n=2025), International Working Group for Prognosis in MDS (IWG-PM; n=2387), the Spanish Group of Myelodysplastic Syndromes registry (GESMD; n=7687), or the Düsseldorf MDS registry (n=1185). Recruitment periods for these cohorts were between 1990 and 2016. The correlation between sex and genomic features was analysed in the EuroMDS cohort and validated in the IWG-PM cohort. The effect of sex on clinical outcome, with overall survival as the main endpoint, was analysed in the EuroMDS population and validated in the other three cohorts. Finally, novel prognostic models incorporating sex and genomic information were built and validated, and compared to the widely used revised International Prognostic Scoring System (IPSS-R). This study is registered with ClinicalTrials.gov, NCT04889729. FINDINGS: The study included 7792 (58·7%) men and 5492 (41·3%) women. 10 906 (82·1%) patients were White, and race was not reported for 2378 (17·9%) patients. Sex biases were observed at the single-gene level with mutations in seven genes enriched in men (ASXL1, SRSF2, and ZRSR2 p<0·0001 in both cohorts; DDX41 not available in the EuroMDS cohort vs p=0·0062 in the IWG-PM cohort; IDH2 p<0·0001 in EuroMDS vs p=0·042 in IWG-PM; TET2 p=0·031 vs p=0·035; U2AF1 p=0·033 vs p<0·0001) and mutations in two genes were enriched in women (DNMT3A p<0·000

Published
2023

28. Real-World Validation of Molecular International Prognostic Scoring System for Myelodysplastic Syndromes

Author

Sauta, E., Robin, M., Bersanelli, M., Travaglino, E., Meggendorfer, M., Zhao, L. -P., Caballero Berrocal, J. C., Sala, C., Maggioni, G., Bernardi, M., Di Grazia, C., Vago, L., Rivoli, G., Borin, L., D'Amico, S., Tentori, C. A., Ubezio, M., Campagna, A., Russo, A., Mannina, D., Lanino, L., Chiusolo, Patrizia, Giaccone, L., Voso, Maria Teresa, Riva, M., Oliva, E. N., Zampini, M., Riva, E., Nibourel, O., Bicchieri, M., Bolli, N., Rambaldi, A., Passamonti, F., Savevski, V., Santoro, A., Germing, U., Kordasti, S., Santini, V., Diez-Campelo, M., Sanz, G., Sole, F., Kern, W., Platzbecker, U., Ades, L., Fenaux, P., Haferlach, T., Castellani, G., Della Porta, M. G., Chiusolo P. (ORCID:0000-0002-1355-1587), Voso M. T., Sauta, E., Robin, M., Bersanelli, M., Travaglino, E., Meggendorfer, M., Zhao, L. -P., Caballero Berrocal, J. C., Sala, C., Maggioni, G., Bernardi, M., Di Grazia, C., Vago, L., Rivoli, G., Borin, L., D'Amico, S., Tentori, C. A., Ubezio, M., Campagna, A., Russo, A., Mannina, D., Lanino, L., Chiusolo, Patrizia, Giaccone, L., Voso, Maria Teresa, Riva, M., Oliva, E. N., Zampini, M., Riva, E., Nibourel, O., Bicchieri, M., Bolli, N., Rambaldi, A., Passamonti, F., Savevski, V., Santoro, A., Germing, U., Kordasti, S., Santini, V., Diez-Campelo, M., Sanz, G., Sole, F., Kern, W., Platzbecker, U., Ades, L., Fenaux, P., Haferlach, T., Castellani, G., Della Porta, M. G., Chiusolo P. (ORCID:0000-0002-1355-1587), and Voso M. T.

Abstract

PURPOSEMyelodysplastic syndromes (MDS) are heterogeneous myeloid neoplasms in which a risk-adapted treatment strategy is needed. Recently, a new clinical-molecular prognostic model, the Molecular International Prognostic Scoring System (IPSS-M) was proposed to improve the prediction of clinical outcome of the currently available tool (Revised International Prognostic Scoring System [IPSS-R]). We aimed to provide an extensive validation of IPSS-M.METHODSA total of 2,876 patients with primary MDS from the GenoMed4All consortium were retrospectively analyzed.RESULTSIPSS-M improved prognostic discrimination across all clinical end points with respect to IPSS-R (concordance was 0.81 v 0.74 for overall survival and 0.89 v 0.76 for leukemia-free survival, respectively). This was true even in those patients without detectable gene mutations. Compared with the IPSS-R based stratification, the IPSS-M risk group changed in 46% of patients (23.6% and 22.4% of subjects were upstaged and downstaged, respectively).In patients treated with hematopoietic stem cell transplantation (HSCT), IPSS-M significantly improved the prediction of the risk of disease relapse and the probability of post-transplantation survival versus IPSS-R (concordance was 0.76 v 0.60 for overall survival and 0.89 v 0.70 for probability of relapse, respectively). In high-risk patients treated with hypomethylating agents (HMA), IPSS-M failed to stratify individual probability of response; response duration and probability of survival were inversely related to IPSS-M risk.Finally, we tested the accuracy in predicting IPSS-M when molecular information was missed and we defined a minimum set of 15 relevant genes associated with high performance of the score.CONCLUSIONIPSS-M improves MDS prognostication and might result in a more effective selection of candidates to HSCT. Additional factors other than gene mutations can be involved in determining HMA sensitivity. The definition of a minimum set of relevant genes may

Published
2023

29. A preliminary study of the ability of the 4Kscore test, the Prostate Cancer Prevention Trial-Risk Calculator and the European Research Screening Prostate-Risk Calculator for predicting high-grade prostate cancer

Author

Borque-Fernando, Á., Esteban-Escaño, L.M., Rubio-Briones, J., Lou-Mercadé, A.C., García-Ruiz, R., Tejero-Sánchez, A., Muñoz-Rivero, M.V., Cabañuz-Plo, T., Alfaro-Torres, J., Marquina-Ibáñez, I.M., Hakim-Alonso, S., Mejía-Urbáez, E., Gil-Fabra, J., Gil-Martínez, P., Ávarez-Alegret, R., Sanz, G., and Gil-Sanz, M.J.

Published
2016
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31. From transcriptomics to proteomics: Unraveling biological knowledge via Machine Learning

Author

Serrano-Sanz, G. (Guillermo), Hernaez, M. (Mikel), and Guruceaga, E. (Elizabeth)

Subjects
Proteomics, Artificial intelligence, Molecular biology, Ciencias de la vida::Biociencias computacionales [Materias Investigacion], Transcriptomics
Abstract

We start by highlighting basic concepts of both molecular biology and machine learning. This overview focuses on the key ideas that are required to comprehend the rest of the work, and thus, it does not attempt at providing a comprehensive review. We start with the basis of DNA and RNA, the genetic building bricks, until the formation of the proteins, the final actors of the genetic machinery. We also explore state-of-the-art technologies to measure those processes along with their limitations. After introducing the basic biological concepts, we will discuss the basics of machine learning methodologies and some of the most important models used in recent years to solve many biological problems.

Published
2022

32. P135 - Topic: AS08-Treatment/AS08f-Clinical trials – Phase II-III: RANDOMIZED PHASE 2 STUDY TO ASSESS SAFETY AND EFFICACY OF LOW-DOSE (LD) ORAL DECITABINE/CEDAZURIDINE (ASTX727) IN LOWER-RISK MYELODYSPLASTIC SYNDROMES (LR-MDS) PATIENTS: INTERIM SAFETY ANALYSIS

Author

Garcia-Manero, G., Bachiashvili, K., Griffiths, E., Traer, E., Saini, L., Amin, H., Zeidan, A., Mohan, S., Lübbert, M., Maness, L., Foran, J., Selleslag, D., Xicoy, B., Pollyea, D., Sallman, D., Al-Kali, A., Berdeja, J., Al-Ali, H., Zhu, N., Lopez, P. Font, Sanz, G., Santini, V., Yimer, H., Cripe, L., Priego, V., Odenike, O., Heyrman, B., Valcárcel, D., Vachhani, P., Sano, Y., Mirakhur, B., Oganesian, A., Keer, H., and Yacoub, A.

Published
2023
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33. P095 - Topic: AS06-Prognosis/AS06a-Prognostic factors of outcome and risk assessment: ACCELERATED FAILURE TIME MODELS AS A CLINICALLY PLAUSIBLE WAY TO DESCRIBE SURVIVAL IN MDS – AN ANALYSIS OF THE IWG-PM DATABASE

Author

Pfeilstöcker, M., Tuechler, H., Ades, L., Cermak, J., Chermat, F., Della Porta, M., Fenaux, P., Garcia-Manero, G., Germing, U., Haase, D., Kündgen, A., Lübbert, M., Magalhaes, S., Malcovati, L., Miyazaki, Y., Sanz, G., Santini, V., Sekeres, M., Walter, M., Valent, P., and Greenberg, P.

Published
2023
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34. P091 - Topic: AS06-Prognosis/AS06a-Prognostic factors of outcome and risk assessment: A STEP TOWARDS IDENTIFICATION AND CAUSAL INTERPRETATION OF THERAPY-RELATED MDS (T-MDS)

Author

Kuendgen, A., Nomdedeu, M., Tuechler, H., Garcia-Manero, G., Komrokji, R., Sekeres, M., Della Porta, M., Cazzola, M., Dezern, A., Roboz, G., Steensma, D., Van De Loosdrecht, A., Malcovati, L., Schlenk, R., Grau, J., Calvo, X., Blum, S., Pereira, A., Valent, P., Costa, D., Giagounidis, A., Xicoy, B., Döhner, H., Platzbecker, U., Pedro, C., Lübbert, M., Oiartzabal, I., Diez-Campelo, M., Cedena, M.T., Machherndl-Spandl, S., Lopez-Pavia, M., Martinez-De-Sola, M., Stauder, R., Merchan, B., Ganster, C., Schroeder, T., Voso, M.T., Pfeilstöcker, M., Sill, H., Hildebrandt, B., Esteve, J., Cobo, F., Solé, F., Germing, U., Greenberg, P., Haase, D., and Sanz, G.

Published
2023
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35. P011 - Topic: AS01-Diagnosis/AS01c-Molecular aberrations (cytogenetic, genetic, gene expression): GENOMIC CLASSIFICATION OF MYELODYSPLASTIC SYNDROMES

Author

Bernard, E., Hasserjian, R., Greenberg, P., Ossa, J. Arango, Creignou, M., Nannya, Y., Tuechler, H., Medina-Martinez, J., Levine, M., Jädersten, M., Germing, U., Sanz, G., Van De Loosdrecht, A., Kosmider, O., Follo, M., Thol, F., Zamora, L., Pinheiro, R., Pellagatti, A., Elias, H., Haase, D., Ganster, C., Ades, L., Tobiasson, M., Palomo, L., Della Porta, M., Fenaux, P., Belickova, M., Savona, M., Klimek, V., Santos, F., Boultwood, J., Kotsianidis, I., Santini, V., Solé, F., Platzbecker, U., Heuser, M., Valent, P., Finelli, C., Voso, M.T., Shih, L.-Y., Fontenay, M., Jansen, J., Cervera-Zamora, J., Gattermann, N., Ebert, B., Bejar, R., Malcovati, L., Cazzola, M., Ogawa, S., Hellstrom-Lindberg, E., and Papaemmanuil, E.

Published
2023
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45. Incidence and prognostic impact of U2AF1 mutations and other gene alterations in myelodysplastic neoplasms with isolated 20q deletion.

Author

Castillo, Martín I., Ribate, Villamón E., Muñoz, Calabuig M., Santillana, Sanz G., Taboada, Such E., Casterá, Mora E., Abinzano, Calasanz M. J., Barranco, Irigoyen A., Nieto, Collado R., Pampliega, Vara M., Blanco, M. L., de Andrés, Álvarez S., de Oteyza, Pérez J., del Castillo, Bernal T., Font, Granada I., Cayuela, Jerez A., Díez‐Campelo, M., Sánchez, Abellán R., Vercet, Solano C., and Díaz, Tormo M.

Subjects
GENETIC mutation, TUMORS, PROGNOSIS
Abstract

Background: In myelodysplastic neoplasms (MDS), the 20q deletion [del(20q)] is a recurrent chromosomal abnormality that it has a high co‐occurrence with U2AF1 mutations. Nevertheless, the prognostic impact of U2AF1 in these MDS patients is uncertain and the possible clinical and/or prognostic differences between the mutation type and the mutational burden are also unknown. Methods: Our study analyzes different molecular variables in 100 MDS patients with isolated del(20q). Results & Conclusions: We describe the high incidence and negative prognostic impact of U2AF1 mutations and other alterations such as in ASXL1 gene to identify prognostic markers that would benefit patients to receive earlier treatment. [ABSTRACT FROM AUTHOR]

Published
2023
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47. Benefits of omega-3 fatty acid dietary supplementation on health-related quality of life in patients with meibomian gland dysfunction

Author

Oleñik A, Mahillo-Fernández I, Alejandre-Alba N, Fernández-Sanz G, Alarcón Pérez M, Luxan S, Quintana S, Martínez de Carneros Llorente A, García-Sandoval B, and Jiménez-Alfaro I

Subjects
Ophthalmology, RE1-994
Abstract

Andrea Oleñik, Ignacio Mahillo-Fernández, Nicolás Alejandre-Alba, Guillermo Fernández-Sanz, María Alarcón Pérez, Sol Luxan, Silvia Quintana, Alfonso Martínez de Carneros Llorente, Blanca García-Sandoval, Ignacio Jiménez-AlfaroDepartment of Ophthalmology, Fundación Jiménez Díaz, Madrid, SpainBackground: We assessed the impact of a dietary supplement based on the combination of omega-3 essential fatty acids and antioxidants on health-related quality of life in patients with meibomian gland dysfunction (MGD).Methods: Patients of either sex (aged 18–85 years) diagnosed with MGD according to criteria identified at a 2011 International Workshop on Meibomian Gland Dysfunction participated in this randomized, double-masked, placebo-controlled study. Group A patients (controls) received an oral placebo supplement and group B patients received the oral study supplement (Brudysec® 1.5 g; Brudy Laboratories, Barcelona, Spain). At baseline and at 3-month follow-up, the patients completed the 36-Item Short Form Health Survey questionnaire using a Spanish validated version. The Physical (PCS) and Mental (MCS) Component Summary scores were the main outcome variables.Results: A total of 61 patients completed the study (group A, n=31; group B, n=30). There were no significant differences in PCS and MCS scores at baseline between the two study groups, but after 3 months of treatment, significantly higher mean PCS and MSC scores were observed in patients treated with the active omega-3 dietary supplement as compared with controls (mean [standard deviation] PCS score 53.33±5.57 versus 47.46±7.31, P=0.008; mean MCS score 54.60±5.64 versus 47.80±8.45, P=0.0005). Moreover, mean differences between values at 3 months as compared with baseline were statistically significant for patients in group B (PCS score 7.14±5.81, 95% confidence interval 4.97–9.31, P=0.000; MCS score 5.96±7.64, 95% confidence interval 3.10–8.81, P=0.0002), whereas mean differences in patients assigned to group A were not statistically significant.Conclusion: Dietary supplementation with a combination of omega-3 essential fatty acids and antioxidants had a significant beneficial effect on HRQoL (health-related quality of life) in patients with MGD.Keywords: antioxidants, Brudysec®, nutraceuticals, polyunsaturated fatty acids

Published
2014

48. PB1915: SOMATIC ALTERATIONS IN PATIENTS WITH INHERITED MYELOID MALIGNANCIES SYNDROMES: A SINGLE-CENTER STUDY

Author

Santiago Balsera, M., primary, Liquori, A., additional, Gil, J. V., additional, Avetisyan, G., additional, Díaz, Á., additional, Cordón, L., additional, Martín, B., additional, Mora, E., additional, Villalba, A., additional, Sánchez, B., additional, Gómez, I., additional, Moscardó, C., additional, Ferrer, B., additional, Serrano, J., additional, González, E., additional, Morote, M., additional, Sargas, C., additional, García, C., additional, Martínez, C., additional, Fernández, B., additional, Guaita, M., additional, San Juan, A., additional, Ibáñez, M., additional, Barragán, E., additional, Montesinos, P., additional, de la Rubia, J., additional, Zúñiga, Á., additional, Sanz, G., additional, Such, E., additional, and Cervera, J., additional

Published
2022
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49. S168: ERYTHROPOIETIN STIMULATION AGENTS SIGNIFICANTLY IMPROVES OUTCOME IN LOWER RISK MDS.

Author

Garelius, H., primary, Smith, A., additional, Bagguley, T., additional, Taylor, A., additional, Fenaux, P., additional, Bowen, D., additional, Symeonidis, A., additional, Mittelmann, M., additional, Stauder, R., additional, Čermák, J., additional, Sanz, G., additional, Langemeijer, S., additional, Malcovati, L., additional, Germing, U., additional, Itzykson, R., additional, Guerci-Bresler, A., additional, Culligan, D., additional, Kotsianidis, I., additional, Koinig Mag, K., additional, van Marrewijk, C., additional, Crouch, S., additional, de Witte, T., additional, and Hellström-Lindberg, E., additional

Published
2022
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50. P787: SABATOLIMAB (MBG453) COMBINATION TREATMENT REGIMENS FOR PATIENTS WITH HIGHER-RISK MYELODYSPLASTIC SYNDROMES: THE MYELODYSPLASTIC SYNDROMES STUDIES IN THE STIMULUS IMMUNO-MYELOID CLINICAL TRIAL PROGRAM

Author

Zeidan, A. M., primary, Al-Kali, A., additional, Borate, U., additional, Cluzeau, T., additional, DeZern, A. E., additional, Esteve, J., additional, Giagounidis, A., additional, Kobata, K., additional, Lyons, R., additional, Platzbecker, U., additional, Sallman, D. A., additional, Santini, V., additional, Sanz, G. F., additional, Sekeres, M. A., additional, Wei, A. H., additional, Xiao, Z., additional, Van Hoef, M., additional, Nourry-Boulot, C., additional, Sadek, I., additional, Ma, F., additional, Iordan, A., additional, Sabo, J., additional, and Garcia-Manero, G., additional

Published
2022
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