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30 results on '"Palacios, Nuria"'

1. Clinical and outcome comparison of genetically positive vs. negative patients in a large cohort of suspected familial hypocalciuric hypercalcemia

Author

Asla, Queralt, Sardà, Helena, Seguí, Núria, Martínez de Pinillos, Guillermo, Mazarico-Altisent, Isabel, Capel, Ismael, Rives, José, Suárez, Javier, Ávila-Rubio, Verónica, Muñoz Torres, Manuel, Saigí, Ignasi, Palacios, Nuria, Urgell, Eulàlia, Webb, Susan M., Fernández, Mercè, Oriola, Josep, Mora, Mireia, Tondo, Mireia, and Aulinas, Anna

Published
2024
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2. Co-occurrence of mutations in NF1 and other susceptibility genes in pheochromocytoma and paraganglioma

Author

Mellid, Sara, Gil, Eduardo, Letón, Rocío, Caleiras, Eduardo, Honrado, Emiliano, Richter, Susan, Palacios, Nuria, Lahera, Marcos, Galofré, Juan C., López-Fernández, Adriá, Calatayud, Maria, Herrera-Martínez, Aura D., Galvez, María A., Matias-Guiu, Xavier, Balbín, Milagros, Korpershoek, Esther, Lim, Eugénie S., Maletta, Francesca, Lider, Sofia, Fliedner, Stephanie M.J., Bechmann, Nicole, Eisenhofer, Graeme, Canu, Letizia, Rapizzi, Elena, Bancos, Irina, Robledo, Mercedes, Cascón, Alberto, Mellid, Sara, Gil, Eduardo, Letón, Rocío, Caleiras, Eduardo, Honrado, Emiliano, Richter, Susan, Palacios, Nuria, Lahera, Marcos, Galofré, Juan C., López-Fernández, Adriá, Calatayud, Maria, Herrera-Martínez, Aura D., Galvez, María A., Matias-Guiu, Xavier, Balbín, Milagros, Korpershoek, Esther, Lim, Eugénie S., Maletta, Francesca, Lider, Sofia, Fliedner, Stephanie M.J., Bechmann, Nicole, Eisenhofer, Graeme, Canu, Letizia, Rapizzi, Elena, Bancos, Irina, Robledo, Mercedes, and Cascón, Alberto

Abstract

Introduction: The percentage of patients diagnosed with pheochromocytoma and paraganglioma (altogether PPGL) carrying known germline mutations in one of the over fifteen susceptibility genes identified to date has dramatically increased during the last two decades, accounting for up to 35-40% of PPGL patients. Moreover, the application of NGS to the diagnosis of PPGL detects unexpected co-occurrences of pathogenic allelic variants in different susceptibility genes. Methods: Herein we uncover several cases with dual mutations in NF1 and other PPGL genes by targeted sequencing. We studied the molecular characteristics of the tumours with co-occurrent mutations, using omic tools to gain insight into the role of these events in tumour development. Results: Amongst 23 patients carrying germline NF1 mutations, targeted sequencing revealed additional pathogenic germline variants in DLST (n=1) and MDH2 (n=2), and two somatic mutations in H3-3A and PRKAR1A. Three additional patients, with somatic mutations in NF1 were found carrying germline pathogenic mutations in SDHB or DLST, and a somatic truncating mutation in ATRX. Two of the cases with dual germline mutations showed multiple pheochromocytomas or extra-adrenal paragangliomas - an extremely rare clinical finding in NF1 patients. Transcriptional and methylation profiling and metabolite assessment showed an “intermediate signature” to suggest that both variants had a pathological role in tumour development. Discussion: In conclusion, mutations affecting genes involved in different pathways (pseudohypoxic and receptor tyrosine kinase signalling) co-occurring in the same patient could provide a selective advantage for the development of PPGL, and explain the variable expressivity and incomplete penetrance observed in some patients.

Published
2023

5. Co-occurrence of mutations in NF1 and other susceptibility genes in pheochromocytoma and paraganglioma

Author

Mellid, Sara, primary, Gil, Eduardo, additional, Letón, Rocío, additional, Caleiras, Eduardo, additional, Honrado, Emiliano, additional, Richter, Susan, additional, Palacios, Nuria, additional, Lahera, Marcos, additional, Galofré, Juan C., additional, López-Fernández, Adriá, additional, Calatayud, Maria, additional, Herrera-Martínez, Aura D., additional, Galvez, María A., additional, Matias-Guiu, Xavier, additional, Balbín, Milagros, additional, Korpershoek, Esther, additional, Lim, Eugénie S., additional, Maletta, Francesca, additional, Lider, Sofia, additional, Fliedner, Stephanie M. J., additional, Bechmann, Nicole, additional, Eisenhofer, Graeme, additional, Canu, Letizia, additional, Rapizzi, Elena, additional, Bancos, Irina, additional, Robledo, Mercedes, additional, and Cascón, Alberto, additional

Published
2023
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11. Gene expression profiling of subcutaneous adipose tissue in morbid obesity using a focused microarray: Distinct expression of cell-cycle- and differentiation-related genes

Author

Gómez-Coronado Diego, Peromingo Roberto, Crespo Lorena, Olea Nuria, Botella-Carretero José I, Palacios Nuria, Rodríguez-Acebes Sara, Lasunción Miguel A, Vázquez Clotilde, and Martínez-Botas Javier

Subjects
Internal medicine, RC31-1245, Genetics, QH426-470
Abstract

Abstract Background Obesity results from an imbalance between food intake and energy expenditure, which leads to an excess of adipose tissue. The excess of adipose tissue and adipocyte dysfunction associated with obesity are linked to the abnormal regulation of adipogenesis. The objective of this study was to analyze the expression profile of cell-cycle- and lipid-metabolism-related genes of adipose tissue in morbid obesity. Methods We used a custom-made focused cDNA microarray to determine the adipose tissue mRNA expression profile. Gene expression of subcutaneous abdominal fat samples from 15 morbidly obese women was compared with subcutaneous fat samples from 10 nonobese control patients. The findings were validated in an independent population of 31 obese women and 9 obese men and in an animal model of obesity (Lepob/ob mice) by real-time RT-PCR. Results Microarray analysis revealed that transcription factors that regulate the first stages of adipocyte differentiation, such as CCAAT/enhancer binding protein beta (C/EBPβ) and JUN, were upregulated in the adipose tissues of morbidly obese patients. The expression of peroxisome proliferator-activated receptor gamma (PPARγ), a transcription factor which controls lipid metabolism and the final steps of preadipocyte conversion into mature adipocytes, was downregulated. The expression of three cyclin-dependent kinase inhibitors that regulate clonal expansion and postmitotic growth arrest during adipocyte differentiation was also altered in obese subjects: p18 and p27 were downregulated, and p21 was upregulated. Angiopoietin-like 4 (ANGPTL4), which regulates angiogenesis, lipid and glucose metabolism and it is know to increase dramatically in the early stages of adipocyte differentiation, was upregulated. The expression of C/EBPβ, p18, p21, JUN, and ANGPTL4 presented similar alterations in subcutaneous adipose tissue of Lepob/ob mice. Conclusions Our microarray gene profiling study revealed that the expression of genes involved in adipogenesis is profoundly altered in the subcutaneous adipose tissue of morbidly obese subjects. This expression pattern is consistent with an immature adipocyte phenotype that could reflect the expansion of the adipose tissue during obesity.

Published
2010
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15. Axitinib treatment in advanced RAI-resistant differentiated thyroid cancer (DTC) and refractory medullary thyroid cancer (MTC)

Author

Capdevila, Jaume, primary, Trigo, José Manuel, additional, Aller, Javier, additional, Manzano, José Luís, additional, Adrián, Silvia García, additional, Llopis, Carles Zafón, additional, Reig, Òscar, additional, Bohn, Uriel, additional, Cajal, Teresa Ramón y, additional, Duran-Poveda, Manuel, additional, Astorga, Beatriz González, additional, López-Alfonso, Ana, additional, Martínez, Javier Medina, additional, Porras, Ignacio, additional, Reina, Juan Jose, additional, Palacios, Nuria, additional, Grande, Enrique, additional, Cillán, Elena, additional, Matos, Ignacio, additional, and Grau, Juan Jose, additional

Published
2017
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16. Medullary thyroid cancer (MTC): descriptive analysis and prognostic factors in a multicenter study

Author

Alcazar, Victoria, primary, Blanco, Concepcion, additional, Alvarez-Escola, Cristina, additional, Guijarro, Guadalupe, additional, Estrada, Javier, additional, De, Miguel Paz, additional, Palacios, Nuria, additional, Duran, Alejandra, additional, Carmen, Montanes M., additional, Abad, Ainhoa, additional, Lecumberri, Beatriz, additional, Civantos, Soralla, additional, and Aller, Javier, additional

Published
2016
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17. Clinical and genetic characterization of pituitary gigantism: an international collaborative study in 208 patients.

Author

UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Unité d'endocrinologie pédiatrique, Rostomyan, Liliya, Daly, Adrian F, Petrossians, Patrick, Nachev, Emil, Lila, Anurag R, Lecoq, Anne-Lise, Lecumberri, Beatriz, Trivellin, Giampaolo, Salvatori, Roberto, Moraitis, Andreas G, Holdaway, Ian, Kranenburg-van Klaveren, Dianne J, Chiara Zatelli, Maria, Palacios, Nuria, Nozieres, Cecile, Zacharin, Margaret, Ebeling, Tapani, Ojaniemi, Marja, Rozhinskaya, Liudmila, Verrua, Elisa, Jaffrain-Rea, Marie-Lise, Filipponi, Silvia, Gusakova, Daria, Pronin, Vyacheslav, Bertherat, Jerome, Belaya, Zhanna, Ilovayskaya, Irena, Sahnoun-Fathallah, Mona, Sievers, Caroline, Stalla, Gunter K, Castermans, Emilie, Caberg, Jean-Hubert, Sorkina, Ekaterina, Auriemma, Renata Simona, Mittal, Sachin, Kareva, Maria, Lysy, Philippe, Emy, Philippe, De Menis, Ernesto, Choong, Catherine S, Mantovani, Giovanna, Bours, Vincent, De Herder, Wouter, Brue, Thierry, Barlier, Anne, Neggers, Sebastian J C M M, Zacharieva, Sabina, Chanson, Philippe, Shah, Nalini Samir, Stratakis, Constantine A, Naves, Luciana A, Beckers, Albert, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Unité d'endocrinologie pédiatrique, Rostomyan, Liliya, Daly, Adrian F, Petrossians, Patrick, Nachev, Emil, Lila, Anurag R, Lecoq, Anne-Lise, Lecumberri, Beatriz, Trivellin, Giampaolo, Salvatori, Roberto, Moraitis, Andreas G, Holdaway, Ian, Kranenburg-van Klaveren, Dianne J, Chiara Zatelli, Maria, Palacios, Nuria, Nozieres, Cecile, Zacharin, Margaret, Ebeling, Tapani, Ojaniemi, Marja, Rozhinskaya, Liudmila, Verrua, Elisa, Jaffrain-Rea, Marie-Lise, Filipponi, Silvia, Gusakova, Daria, Pronin, Vyacheslav, Bertherat, Jerome, Belaya, Zhanna, Ilovayskaya, Irena, Sahnoun-Fathallah, Mona, Sievers, Caroline, Stalla, Gunter K, Castermans, Emilie, Caberg, Jean-Hubert, Sorkina, Ekaterina, Auriemma, Renata Simona, Mittal, Sachin, Kareva, Maria, Lysy, Philippe, Emy, Philippe, De Menis, Ernesto, Choong, Catherine S, Mantovani, Giovanna, Bours, Vincent, De Herder, Wouter, Brue, Thierry, Barlier, Anne, Neggers, Sebastian J C M M, Zacharieva, Sabina, Chanson, Philippe, Shah, Nalini Samir, Stratakis, Constantine A, Naves, Luciana A, and Beckers, Albert

Abstract

Despite being a classical growth disorder, pituitary gigantism has not been studied previously in a standardized way. We performed a retrospective, multicenter, international study to characterize a large series of pituitary gigantism patients. We included 208 patients (163 males; 78.4%) with growth hormone excess and a current/previous abnormal growth velocity for age or final height >2 s.d. above country normal means. The median onset of rapid growth was 13 years and occurred significantly earlier in females than in males; pituitary adenomas were diagnosed earlier in females than males (15.8 vs 21.5 years respectively). Adenomas were ≥10 mm (i.e., macroadenomas) in 84%, of which extrasellar extension occurred in 77% and invasion in 54%. GH/IGF1 control was achieved in 39% during long-term follow-up. Final height was greater in younger onset patients, with larger tumors and higher GH levels. Later disease control was associated with a greater difference from mid-parental height (r=0.23, P=0.02). AIP mutations occurred in 29%; microduplication at Xq26.3 - X-linked acrogigantism (X-LAG) - occurred in two familial isolated pituitary adenoma kindreds and in ten sporadic patients. Tumor size was not different in X-LAG, AIP mutated and genetically negative patient groups. AIP-mutated and X-LAG patients were significantly younger at onset and diagnosis, but disease control was worse in genetically negative cases. Pituitary gigantism patients are characterized by male predominance and large tumors that are difficult to control. Treatment delay increases final height and symptom burden. AIP mutations and X-LAG explain many cases, but no genetic etiology is seen in >50% of cases.

Published
2015

19. Clinical and genetic characterization of pituitary gigantism: an international collaborative study in 208 patients

Author

Rostomyan, Liliya, primary, Daly, Adrian F, additional, Petrossians, Patrick, additional, Nachev, Emil, additional, Lila, Anurag R, additional, Lecoq, Anne-Lise, additional, Lecumberri, Beatriz, additional, Trivellin, Giampaolo, additional, Salvatori, Roberto, additional, Moraitis, Andreas G, additional, Holdaway, Ian, additional, Kranenburg - van Klaveren, Dianne J, additional, Chiara Zatelli, Maria, additional, Palacios, Nuria, additional, Nozieres, Cecile, additional, Zacharin, Margaret, additional, Ebeling, Tapani, additional, Ojaniemi, Marja, additional, Rozhinskaya, Liudmila, additional, Verrua, Elisa, additional, Jaffrain-Rea, Marie-Lise, additional, Filipponi, Silvia, additional, Gusakova, Daria, additional, Pronin, Vyacheslav, additional, Bertherat, Jerome, additional, Belaya, Zhanna, additional, Ilovayskaya, Irena, additional, Sahnoun-Fathallah, Mona, additional, Sievers, Caroline, additional, Stalla, Gunter K, additional, Castermans, Emilie, additional, Caberg, Jean-Hubert, additional, Sorkina, Ekaterina, additional, Auriemma, Renata Simona, additional, Mittal, Sachin, additional, Kareva, Maria, additional, Lysy, Philippe A, additional, Emy, Philippe, additional, De Menis, Ernesto, additional, Choong, Catherine S, additional, Mantovani, Giovanna, additional, Bours, Vincent, additional, De Herder, Wouter, additional, Brue, Thierry, additional, Barlier, Anne, additional, Neggers, Sebastian J C M M, additional, Zacharieva, Sabina, additional, Chanson, Philippe, additional, Shah, Nalini Samir, additional, Stratakis, Constantine A, additional, Naves, Luciana A, additional, and Beckers, Albert, additional

Published
2015
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20. Axitinib treatment in advanced RAI-resistant differentiated thyroid cancer (DTC) and refractory medullary thyroid cancer (MTC).

Author

Capdevila, Jaume, primary, Trigo Perez, Jose Manuel, additional, Aller, Javier, additional, Manzano, Jose Luis, additional, Garcia Adrian, Silvia, additional, Zafon, Carles, additional, Reig, Òscar, additional, Bohn, Uriel, additional, Cillan, Elena, additional, Duran, Manuel, additional, Gonzalez Astorga, Beatriz, additional, Lopez, Ana, additional, Javier, Medina, additional, Porras, Ignacio, additional, Reina, Juan J, additional, Palacios, Nuria, additional, Grande, Enrique, additional, and Grau, Juan J., additional

Published
2014
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23. Gene expression profiling of subcutaneous adipose tissue in morbid obesity using a focused microarray: Distinct expression of cell-cycle- and differentiation-related genes

Author

Rodríguez-Acebes, Sara, primary, Palacios, Nuria, additional, Botella-Carretero, José I, additional, Olea, Nuria, additional, Crespo, Lorena, additional, Peromingo, Roberto, additional, Gómez-Coronado, Diego, additional, Lasunción, Miguel A, additional, Vázquez, Clotilde, additional, and Martínez-Botas, Javier, additional

Published
2010
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29. Results of repeated transsphenoidal surgery in Cushing's disease. Long-term follow-up.

Author

Valderrábano P, Aller J, García-Valdecasas L, García-Uría J, Martín L, Palacios N, and Estrada J

Subjects
Adolescent, Adult, Female, Follow-Up Studies, Humans, Male, Middle Aged, Recurrence, Reoperation, Retrospective Studies, Sphenoid Sinus, Surgical Procedures, Operative methods, Time Factors, Young Adult, Pituitary ACTH Hypersecretion surgery
Abstract

Objective: Transsphenoidal surgery (TSS) is the treatment of choice for Cushing's disease (CD). However, the best treatment option when hypercortisolism persists or recurs remains unknown. The aim of this study was to analyze the short and long-term outcome of repeat TSS in this situation and to search for response predictors., Patients and Methods: Data from 26 patients with persistent (n=11) or recurrent (n=15) hypercortisolism who underwent repeat surgery by a single neurosurgeon between 1982 and 2009 were retrospectively analyzed. Remission was defined as normalization of urinary free cortisol (UFC) levels, and recurrence as presence of elevated UFC levels after having achieved remission. The following potential outcome predictors were analyzed: adrenal status (persistence or recurrence) after initial TSS, tumor identification in imaging tests, degree of hypercortisolism before repeat TSS, same/different surgeon in both TSS, and time to repeat surgery., Results: Immediate postoperative remission was achieved in 12 patients (46.2%). Five of the 10 patients with available follow-up data relapsed after surgery (median time to recurrence, 13 months). New hormone deficiencies were seen in seven patients (37%), and two patients had cerebrospinal fluid leakage. No other major complications occurred. None of the preoperative factors analyzed was predictive of surgical outcome., Conclusions: When compared to initial surgery, repeat TSS for CD is associated to a lower remission rate and a higher risk of recurrence and complications. Further studies are needed to define outcome predictors., (Copyright © 2013 SEEN. Published by Elsevier Espana. All rights reserved.)

Published
2014
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30. Activity-dependent somatostatin gene expression is regulated by cAMP-dependent protein kinase and Ca2+-calmodulin kinase pathways.

Author

Sánchez-Muñoz I, Sánchez-Franco F, Vallejo M, Fernández A, Palacios N, Fernández M, and Cacicedo L

Subjects
Animals, Cerebral Cortex cytology, Dose-Response Relationship, Drug, Embryo, Mammalian, Enzyme Inhibitors pharmacology, Gene Expression Regulation, Developmental drug effects, Neurons drug effects, Neurons metabolism, Potassium Chloride pharmacology, RNA, Messenger metabolism, Rats, Signal Transduction drug effects, Somatostatin metabolism, Time Factors, Transfection methods, Calcium metabolism, Calcium-Calmodulin-Dependent Protein Kinases metabolism, Cyclic AMP-Dependent Protein Kinases metabolism, Gene Expression Regulation, Developmental physiology, Signal Transduction physiology, Somatostatin genetics
Abstract

Ca(2+) influx through L-type voltage-gated Ca(2+) channels (L-VSCC) is required for K(+)-induced somatostatin (SS) mRNA. Increase in intracellular Ca(2+) concentration leads to the activation of cyclic AMP-responsive element binding protein (CREB), a key regulator of SS gene transcription. Several different protein kinases possess the capability of driving CREB upon membrane depolarization. We investigated which of the signalling pathways involved in CREB activation mediates SS gene induction in response to membrane depolarization in cerebrocortical cells exposed to 56 mM K(+). Activity dependent phosphorylation of CREB in Ser(133) was immunodetected. Activation of CREB was biphasic showing two peaks at 5 and 60 min. The selective inhibitors of extracellular signal related protein kinase/mitogen-activated protein kinase (ERK/MAPK) PD098059, cyclic-AMPdependent protein kinase (cAMP/PKA) H89 and RpcAMPS, and Ca(2+)/calmodulin-dependent protein kinases (CaMKs) pathways KN62 and KN93 were used to determine the signalling pathways involved in CREB activation. Here we show that the early activation of CREB was dependent on cAMP/PKA along with CaMKs pathways whereas the ERK/MAPK and CaMKs were implicated in the second peak. We observed that H89, RpcAMPS, KN62 and KN93 blocked K(+)-induced SS mRNA whereas PD098059 did not. These findings indicate that K(+)-induced SSmRNA is mediated by the activation of cAMP/PKA and CaMKs pathways, thus suggesting that the early activation of CREB is involved in the induction of SS by neuronal activity. We also demonstrated, using transient transfections of cerebrocortical cells, that K(+) induces the transcriptional regulation of the SS gene through the cAMP-responsive element (CRE) sequence located in the SS promoter.

Published
2010
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