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6. Additional file 1 of EZH2 mutations at diagnosis in follicular lymphoma: a promising biomarker to guide frontline treatment

Author

Martínez-Laperche, C., Sanz-Villanueva, L., Díaz Crespo, F. J., Muñiz, P., Martín Rojas, R., Carbonell, D., Chicano, M., Suárez-González, J., Menárguez, J., Kwon, M., Diez Martín, J. L., Buño, I., and Bastos Oreiro, M.

Abstract

Additional file 1: Supplementary Table 1. Custom set of primers for mutations in exons 16 and 18 for sanger sequencing. Supplementary Table 2. Custom set of probes and primers for mutation Y646N for RT-qPCR. Supplementary Table 3. Custom set of probes and LNA primers for mutations Y646C and Y646S for RT-qPCR. Supplementary Table 4. Custom set of probes and LNA primers for mutation A692V for RT-qPCR. Supplementary Table 5. Clinical characteristics, immunohistochemical and molecular markers available in patients treated with R-Benda VS. R-CHOP.

Published
2022
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8. Whole-exome sequencing in splenic marginal zone lymphoma reveals mutations in genes involved in marginal zone differentiation

Author

Martínez, N, Almaraz, C, Vaqué, J P, Varela, I, Derdak, S, Beltran, S, Mollejo, M, Campos-Martin, Y, Agueda, L, Rinaldi, A, Kwee, I, Gut, M, Blanc, J, Oscier, D, Strefford, J C, Martinez-Lopez, J, Salar, A, Sole, F, Rodriguez-Peralto, J L, Diez-Tascón, C, García, J F, Fraga, M, Sebastián, E, Alvés, J, Menárguez, J, González-Carreró, J, Casado, L F, Bayes, M, Bertoni, F, Gut, I, and Piris, M A

Published
2014
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11. ANALYSIS OF EZH2 MUTATIONS IN SOLID AND LIQUID BIOPSY AND ITS ROLE AS PREDICTIVE BIOMARKER FOR CHEMOTHERAPY IN PATIENTS WITH FOLLICULAR LYMPHOMA

Author

Sanz‐Villanueva, L., primary, Díaz Crespo, F., additional, Martín Rojas, R., additional, Carbonell, D., additional, Chicano, M., additional, Suárez‐González, J., additional, Muñiz, P., additional, Menárguez, J., additional, Kwon, M., additional, Diez Martín, J. L., additional, Buño, I., additional, Martínez‐Laperche, C., additional, and Bastos Oreiro, M., additional

Published
2021
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17. Molecular heterogeneity in MCL defined by the use of specificVH genes and the frequency of somatic mutations

Author

Camacho, Francisca I., Algara, Patrocinio, Rodrı́guez, Antonia, Ruı́z-Ballesteros, Elena, Mollejo, Manuela, Martı́nez, Nerea, Martı́nez-Climent, José A., González, Marcos, Mateo, Marisol, Caleo, Alessia, Sánchez-Beato, Margarita, Menárguez, J., Garcı́a-Conde, Javier, Solé, Francesc, Campo, Elı́as, and Piris, Miguel A.

Published
2003
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21. Single‐centre experience of using pegylated liposomal doxorubicin as maintenance treatment in mycosis fungoides.

Author

Falkenhain‐López, D., Fulgencio‐Barbarin, J., Puerta‐Peña, M., Montero‐Menárguez, J., Sánchez‐Velázquez, A., and Ortiz‐Romero, P.L.

Subjects
SEZARY syndrome, MYCOSIS fungoides, DOXORUBICIN, CUTANEOUS T-cell lymphoma
Abstract

A transthoracic echocardiogram was performed in all patients before and after doxorubicin treatment (recommended before and after treatment, with additional measurement at 200 mg m SP -2 sp cumulative dose)8 without cardiac AEs, indicating that doxorubicin is also a safe maintenance therapy in terms of cardiotoxicity. Single-centre experience of using pegylated liposomal doxorubicin as maintenance treatment in mycosis fungoides Dear Editor, Primary cutaneous T-cell lymphomas (CTCLs)1 are characterized by the cutaneous clonal accumulation of T cells; mycosis fungoides (MF) is the most common subtype. Prospective international multicenter phase II trial of intravenous pegylated liposomal doxorubicin monochemotherapy in patients with stage IIB, IVA, or IVB advanced mycosis fungoides: final results from EORTC 21012. [Extracted from the article]

Published
2022
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25. [Is immediate prophylactic thyroidectomy indispensable in familiar medullary thyroid carcinoma?]

Author

Cañizo A, Fanjul M, Cerdá J, Menárguez J, Parente A, Laín A, Carrera N, Md, Rodríguez-Arnao, Rodríguez-Sánchez A, Jr, Polo, and Vázquez J

Subjects
Adult, Adolescent, Carcinoma, Medullary, Thyroidectomy, Humans, Thyroid Neoplasms, Child, Retrospective Studies
Abstract

To emphasize the importance of genetic studies in family members and early prophylactic thyroidectomy in oncogene mutation carriers in the management of familiar medullary thyroid carcinoma.A retrospective review of families with familiar medullary thyroid carcinoma treated at our center in the last 7 years was performed. We identified a total of 7 families who has isolated prevalences with thyroid malignancies. Forty members of the 7 families were screened for gene RET mutations. Prophylactic total thyroidectomy was performed in every RET mutation gene carriers.In all families the index case were patients with medullary thyroid carcinoma presenting at a mean age of 37.25 years (range 23-42). The RET oncogen mutation was in codon 634 in exon 11 (multiple endocrine neoplasia type 2A) in all these patients. Fourteen gene carriers were identified with a mean age of 20 years (range 7-37), eleven of whom had medullary thyroid carcinoma at the time of surgery. Five of the gene carriers were children, with a mean age of 11 years (range 7-16), four of whom had microcarcinoma and one had metastatic carcinoma at the time of surgery. After surgery no hypoparathyroidism or recurrent nerve paralysis were documented. No pediatric patient has presented with phaeochromocytoma or hypoparathyroidism to date Four of the five children have normal calcitonin levels (2 pg/ml) and they are free of disease. The one who presented metastatic carcinoma has recurrent disease and is awaiting surgical treatment.Genetic studies of family members related to patients with familiar medullary thyroid carcinoma and RET mutations is indispensable. The RET mutation in codon 634 exon 11 was found to be the most frequent association. Prophylactic thyroidectomy is the only curative treatment and has minimal complications when performed by expert surgeons. Early thyroidectomy is recommended since distant metastatic spread can occur at early age.

Published
2008

26. Hemophagocytic lymphohistiocytosis in a patient with Sjögren's syndrome: case report and review.

Author

García-Montoya, L., Sáenz-Tenorio, C., Janta, I., Menárguez, J., López-Longo, F., Monteagudo, I., and Naredo, E.

Subjects
IMMUNE system, RHEUMATOID arthritis
Abstract

Hemophagocytic lymphohistiocytosis (HLH) is a very rare syndrome with a mortality up to 95% of cases if not treated. It is characterised by an excessive activation of the immune system that leads to a disproportionate and destructive inflammatory response. The high mortality rates are in part due to a delay in the diagnosis, and therefore clinicians must maintain a high index of suspicion. When the treatment is started early, the survival rate reaches around 55% of cases. HLH usually presents with persistent fever, pancytopenia, and organomegaly and is associated with very high levels of serum ferritin. In this manuscript, we present the case of a patient with primary Sjögren's syndrome who developed HLH after an acute infection by Cytomegalovirus. We will describe and discuss the pathogenesis, differential diagnosis and a pragmatic approach to the treatment for this critically important and, when diagnosed early, potentially curable syndrome. [ABSTRACT FROM AUTHOR]

Published
2017
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27. Whole-exome sequencing in splenic marginal zone lymphoma reveals mutations in genes involved in marginal zone differentiation

Author

Martínez, N, primary, Almaraz, C, additional, Vaqué, J P, additional, Varela, I, additional, Derdak, S, additional, Beltran, S, additional, Mollejo, M, additional, Campos-Martin, Y, additional, Agueda, L, additional, Rinaldi, A, additional, Kwee, I, additional, Gut, M, additional, Blanc, J, additional, Oscier, D, additional, Strefford, J C, additional, Martinez-Lopez, J, additional, Salar, A, additional, Sole, F, additional, Rodriguez-Peralto, J L, additional, Diez-Tascón, C, additional, García, J F, additional, Fraga, M, additional, Sebastián, E, additional, Alvés, J, additional, Menárguez, J, additional, González-Carreró, J, additional, Casado, L F, additional, Bayes, M, additional, Bertoni, F, additional, Gut, I, additional, and Piris, M A, additional

Published
2013
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28. Loss of TCR-beta F1 and/or EZRIN expression is associated with unfavorable prognosis in nodal peripheral T-cell lymphomas

Author

Rodríguez-Pinilla, S M, primary, Sánchez, M E C, additional, Rodríguez, J, additional, García, J F, additional, Sánchez-Espiridión, B, additional, Lamana, L F, additional, Sosa, G, additional, Rivero, J C, additional, Menárguez, J, additional, Gómez, I B, additional, Camacho, F I, additional, Guillen, P R, additional, Orduña, C P S, additional, Rodríguez, G, additional, Barrionuevo, C, additional, Franco, R, additional, Mollejo, M, additional, Marco, J F, additional, de Otazu, R D, additional, and Piris, M A, additional

Published
2013
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31. MicroRNA signatures in B-cell lymphomas

Author

Di Lisio, L, primary, Sánchez-Beato, M, additional, Gómez-López, G, additional, Rodríguez, M E, additional, Montes-Moreno, S, additional, Mollejo, M, additional, Menárguez, J, additional, Martínez, M A, additional, Alves, F J, additional, Pisano, D G, additional, Piris, M A, additional, and Martínez, N, additional

Published
2012
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35. A Clinicopathological Study of 13 Cases

Author

Mollejo, M., primary, Menárguez, J., additional, Lloret, E., additional, Sánchez, A., additional, Campo, E., additional, Algara, P., additional, Cristóbal, E., additional, and Sánchez, E., additional

Published
1995
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39. Molecular heterogeneity in MCL defined by the use of specificVHgenes and the frequency of somatic mutations

Author

Camacho, Francisca I., Algara, Patrocinio, Rodrı́guez, Antonia, Ruı́z-Ballesteros, Elena, Mollejo, Manuela, Martı́nez, Nerea, Martı́nez-Climent, José A., González, Marcos, Mateo, Marisol, Caleo, Alessia, Sánchez-Beato, Margarita, Menárguez, J., Garcı́a-Conde, Javier, Solé, Francesc, Campo, Elı́as, and Piris, Miguel A.

Abstract

This study explores whether the presence of somatic mutations or a biased use of IgVHgenes were associated with the clinical features in a series of 96 patients with mantle cell lymphoma (MCL). The cases were studied by seminested polymerase chain reaction using primers from the FR1 and JHregions. There was an unexpectedly high frequency of somatic mutations, with 29 of 103 sequences showing more than 2% of mutations. Biased usage of specific VHsegments was also found; the most widely used genes in this series wereVH3-21(10 cases),VH3-23(9 cases),VH4-34(11 cases), andVH4-59(9 cases).VHmutation frequency, taking into account different thresholds, did not distinguish different overall survival probabilities. Nevertheless, a more frequent use ofVH3-21or VH4-59(8 of 18) was observed in the group of long-term survivors (18 cases > 5 years; P< .01). None of these long-term survivors presented the VH3-23gene rearrangement. As in other lymphoproliferative disorders, the expression of CD38 or p53 or both was associated with a poorer survival probability. This nonrandom usage of IgVHsegments suggests that specific antigens may play a pathogenically relevant role in the genesis or progression of subsets of MCL cases and may help in distinguishing a significant group of MCL long-term survivors.

Published
2003
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40. Presence of Epstein-Barr Virus and Strain Type Assignment in Argentine Childhood Hodgkin’s Disease

Author

Preciado, M.V., Matteo, E. De, Diez, B., Menárguez, J., and Grinstein, S.

Abstract

Epstein-Barr virus (EBV) has been implicated in the etiology of a large number of malignancies. Most recently several studies have linked EBV to Hodgkin’s disease. In this report, formalin-fixed, paraffin-embedded tissues were collected retrospectively from 41 children with Hodgkin’s disease treated at our hospital. Lymph node biopsies were examined for the presence of two virus-encoded latent proteins: latent membrane protein (LMP) and Epstein-Barr nuclear antigen-2 (EBNA-2), in Reed-Sternberg (RS) and Hodgkin (H) cells, by peroxidase immunolabeling. Nonisotopic Epstein-Barr encoded RNAs (EBERs) in situ hybridization was also performed and positive labeling in malignant cells was detected. Twenty specimens were EBER+/LMP+, 2 were EBER+/LMP-, and 19 were EBER–/LMP–. However, none of the 41 cases expressed EBNA-2. Twenty-two of 41 (54%) cases were EBV positive including 2 of 6 with lymphocyte predominance, 19 of 25 with mixed cellularity, 0 of 9 with nodular sclerosis, and 1 of 1 with lymphocyte depletion. In the age range of 2 to 6 years, 14 of 17 (82%) samples were EBV-positive, whereas only 8 of 24 (33%) samples from the age range of 7 to 15 years contained EBV. (P= .004, a two-tailed Fisher’s test). In 17 samples, polymerase chain reaction amplification was performed using strain specific primers for exon sequences of the EBNA-3C gene of EBV. From 12 positive samples, 8 contained EBV-A and 4 EBV-B. These results support the hypothesis that EBV contributes to the pathogenesis of pediatric Hodgkin’s disease, particularly in mixed cellularity Hodgkin’s disease and in the younger group.

Published
1995
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46. Autochthonous Crimean-Congo Hemorrhagic Fever in Spain.

Author

Negredo, A., de la Calle-Prieto, F., Palencia-Herrejón, E., Mora-Rillo, M., Astray-Mochales, J., Sánchez-Seco, M. P., Lopez, E. Bermejo, Menárguez, J., Fernández-Cruz, A., Sánchez-Artola, B., Keough-Delgado, E., de Arellano, E. Ramírez, Lasala, F., Milla, J., Fraile, J. L., Gavín, M. Ordobás, de la Gándara, A. Martinez, Perez, L. López, Diaz-Diaz, D., and López-García, M. A.

Subjects
*HEMORRHAGIC fever, *TICK-borne diseases, *TICKS as carriers of disease, *VIRUS diseases, *RNA virus infections, *COLON (Anatomy), *INFECTIOUS disease transmission, *DISEASE complications, *LIVER, *PATIENT-professional relations, *NECROSIS, *POLYMERASE chain reaction, *RNA viruses, *TREATMENT effectiveness, *CONTACT tracing
Abstract

Crimean-Congo hemorrhagic fever (CCHF) is a widely distributed, viral, tickborne disease. In Europe, cases have been reported only in the southeastern part of the continent. We report two autochthonous cases in Spain. The index patient acquired the disease through a tick bite in the province of Ávila - 300 km away from the province of Cáceres, where viral RNA from ticks was amplified in 2010. The second patient was a nurse who became infected while caring for the index patient. Both were infected with the African 3 lineage of this virus. (Funded by Red de Investigación Cooperativa en Enfermedades Tropicales [RICET] and Efficient Response to Highly Dangerous and Emerging Pathogens at EU [European Union] Level [EMERGE].). [ABSTRACT FROM AUTHOR]

Published
2017
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47. Occupational allergic contact dermatitis to Dittrichia graveolens in a gardener.

Author

Calvo-Asín C, Tous-Romero F, Puig-Buendia J, Cavestany-Rodríguez R, Montero-Menárguez J, Gutiérrez-Collar C, Alejo-Fernández JL, and Ortiz-de Frutos J

Subjects
Humans, Male, Adult, Female, Asteraceae adverse effects, Middle Aged, Dermatitis, Allergic Contact etiology, Dermatitis, Allergic Contact diagnosis, Dermatitis, Occupational etiology, Dermatitis, Occupational diagnosis, Gardening, Patch Tests
Published
2024
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