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19 results on '"Vázquez-Gómez, Felisa"'

4. Re-irradiation for progressive Diffuse Intrinsic Pontine Glioma (DIPG): The Spanish experience

Author

Panizo-Morgado, Elena, Vazquez-Gómez, Felisa, Perez-Somarriba, Marta, Pavon-Mengual, Miriam, Morales-La Madrid, Andrés, Lopez-Ibor, Blanca, Solano, Palma, Martinez de las Heras, Blanca, Cortés-Hernández, Marta, García-Ariza, Miguel, Raynero-Mellado, Roberto Carlos, Martinez-Merino, Marta, de Lucio Delgado, Ana, Tallón-García, María, Garrido-Colino, Carmen, Ortiz-Gonzalez, Irene, Portugal, Raquel, Baro-Fernández, María, Gonzalez San-Segundo, Carmen, Calvo, Felipe, and Lassaletta, Alvaro

Published
2024
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5. Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome

Author

Aleshkevich, Svetlana, Allende, Luis M., Atkinson, T. Prescott, Atschekzei, Faranaz, Aydemir, Sezin, Aygunes, Utku, Barlogis, Vincent, Baumann, Ulrich, Belko, John, Bezrodnik, Liliana, Biebl, Ariane, Broderick, Lori, Bunin, Nancy J., Caldirola, Maria Soledad, Castelle, Martin, Celmeli, Fatih, Charbonnier, Louis-Marie, Chatila, Talal A., Chellapandian, Deepak, Cokugras, Haluk, Conlon, Niall, Cox, Fionnuala, Crickx, Etienne, Dalgic, Buket, ASH Dalm, Virgil, Danielian, Silvia, Dominguez-Pinilla, Nerea, Dujovny, Tal, Ebbo, Mikael, Eken, Ahmet, Esty, Brittany, Fabre, Alexandre, Fischer, Alain, Hannibal, Mark, Huppert, Laura, Ikeda, Marc D., Jolles, Stephen, Jolly, Kent W., Jones, Neil, Kanariou, Maria, Karakoc-Aydiner, Elif, Karamantziani, Theoni, Kelaidi, Charikleia, Keogan, Mary, Pac Kisaarslan, Ayşenur, Kiykim, Ayca, Klocperk, Adam, Kotsonis, Kosmas, Kuzmenko, Natalia, Leroy, Sylvie, Lianou, Dimitra, Longhurst, Hilary, Lorenz, Myriam Ricarda, Maffucci, Patrick, Manson, Ania, Marchal, Sarah, Malphettes, Marion, Marega, Lia Furlaneto, Mauracher, Andrea A., Meesilpavikai, Kornvalee, Miller, Holly, Mombourquette, Joy, Morgan, Noel G., Mukhina, Anna, Nathalie, Aladjidi, Nelken, Brigitte, Nolan, David, Norlin, Anna-Carin, Oleastro, Matias, Ozcan, Alper, Pasquet, Marlene, Pegler, José Roberto, Picard, Capucine, Polychronopoulou, Sophia, Quartier, Pierre, Quesada, Juan Francisco, Ramakers, Jan, Randall, Katrina L., Rao, V. Koneti, Remiker, Allison, Resin, Geraldine, Richmond, Peter, Rieux-Laucat, Frederic, Rodina, Yulia, Rohrlich, Pierre, Sachs, Johnathan, Sakovich, Inga, Santarlas, Christopher, Sari, Sinan, Sawicki, Gregory, Schauer, Uwe, Scheffler Mendoza, Selma C., Schvetz, Oksana, Schmidt, Reinhold Ernst, Schwarz, Klaus, Sediva, Anna, Sinclair, Kyle, Slatter, Mary, Sleasman, John, Stergiou, Katerina, Suratannon, Narissara, Tanita, Kay, Thompson, Grace, Travis, Stephen, Trojan, Timothy, Tsinti, Maria, Unal, Ekrem, Urdinez, Luciano, Vazquez-Gomez, Felisa, Villa, Mariana, Weinrich, Michael, Weiss, Mitchell J., Wright, Benjamin, Yilmaz, Ebru, Zachova, Radana, Zhang, Yu, Leiding, Jennifer W., Vogel, Tiphanie P., Santarlas, Valentine G.J., Mhaskar, Rahul, Smith, Madison R., Carisey, Alexandre, Vargas-Hernández, Alexander, Silva-Carmona, Manuel, Heeg, Maximilian, Rensing-Ehl, Anne, Neven, Bénédicte, Hadjadj, Jérôme, Hambleton, Sophie, Ronan Leahy, Timothy, Cunningham-Rundles, Charlotte, Dutmer, Cullen M., Sharapova, Svetlana O., Taskinen, Mervi, Chua, Ignatius, Hague, Rosie, Klemann, Christian, Kostyuchenko, Larysa, Morio, Tomohiro, Thatayatikom, Akaluck, Ozen, Ahmet, Scherbina, Anna, Bauer, Cindy S., Flanagan, Sarah E., Gambineri, Eleonora, Giovannini-Chami, Lisa, Heimall, Jennifer, Sullivan, Kathleen E., Allenspach, Eric, Romberg, Neil, Deane, Sean G., Prince, Benjamin T., Rose, Melissa J., Bohnsack, John, Mousallem, Talal, Jesudas, Rohith, Santos Vilela, Maria Marluce Dos, O’Sullivan, Michael, Pachlopnik Schmid, Jana, Průhová, Štěpánka, Rees, Matthew, Su, Helen, Bahna, Sami, Baris, Safa, Bartnikas, Lisa M., Chang Berger, Amy, Briggs, Tracy A., Brothers, Shannon, Bundy, Vanessa, Chan, Alice Y., Chandrakasan, Shanmuganathan, Christiansen, Mette, Cole, Theresa, Cook, Matthew C., Desai, Mukesh M., Fischer, Ute, Fulcher, David A., Gallo, Silvanna, Gauthier, Amelie, Gennery, Andrew R., Gonçalo Marques, José, Gottrand, Frédéric, Grimbacher, Bodo, Grunebaum, Eyal, Haapaniemi, Emma, Hämäläinen, Sari, Heiskanen, Kaarina, Heiskanen-Kosma, Tarja, Hoffman, Hal M., Gonzalez-Granado, Luis Ignacio, Guerrerio, Anthony L., Kainulainen, Leena, Kumar, Ashish, Lawrence, Monica G., Levin, Carina, Martelius, Timi, Neth, Olaf, Olbrich, Peter, Palma, Alejandro, Patel, Niraj C., Pozos, Tamara, Preece, Kahn, Lugo Reyes, Saúl Oswaldo, Russell, Mark A., Schejter, Yael, Seroogy, Christine, Sinclair, Jan, Skevofilax, Effie, Suan, Daniel, Suez, Daniel, Szabolcs, Paul, Velasco, Helena, Warnatz, Klaus, Walkovich, Kelly, Worth, Austen, Seppänen, Mikko R.J., Torgerson, Troy R., Sogkas, Georgios, Ehl, Stephan, Tangye, Stuart G., Cooper, Megan A., Milner, Joshua D., and Forbes Satter, Lisa R.

Published
2023
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6. Long‐term sequelae and quality of life after childhood‐onset craniopharyngioma: Results of a Spanish multicenter study.

Author

Pérez‐Torres Lobato, Maria R., Morell, Mariona, Solano‐Páez, Palma, Ortiz‐Palacios, Marina, Menárgez, Ángela, Panesso, Melissa, Vázquez‐Gómez, Felisa, Moreno‐Carrasco, JLuis, Lassaletta, Álvaro, Santa‐María, Vicente, Pavon‐Mengual, Miriam, Quiroga, Eduardo, García‐Ariza, Miguel A., Mora‐Matilla, Maria, Garrido‐Colino, Carmen, Verdú‐Amoros, Jaime, Nova‐Lozano, Cristina, Vieito, María, Cordero‐Asanza, Esteban X., and Clemente, Maria

Published
2024
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7. Novel Fibroblast Growth Factor Receptor 3–Fatty Acid Synthase Gene Fusion in Recurrent Epithelioid Glioblastoma Linked to Aggressive Clinical Progression.

Author

Diaz, Miguel A., Vázquez-Gómez, Felisa, Garrido, Irene, Arias, Francisco, Suarez, Julia, Buño, Ismael, and Lassaletta, Álvaro

Subjects
*FIBROBLAST growth factor receptors, *FATTY acid synthases, *RADIATION injuries, *GENE fusion, *FRONTAL lobe, *BRAIN tumors
Abstract

Glioblastoma (GBM) is the most common primary malignant brain tumor in adults, with a median overall survival (OS) of 15–18 months despite standard treatments. Approximately 8% of GBM cases exhibit genomic alterations in fibroblast growth factor receptors (FGFRs), particularly FGFR1 and FGFR3. Next-generation sequencing techniques have identified various FGFR3 fusions in GBM. This report presents a novel FGFR3 fusion with fatty acid synthase (FASN) in a 41-year-old male diagnosed with GBM. The patient presented with a persistent headache, and imaging revealed a right frontal lobe lesion. Surgical resection and subsequent histopathology confirmed GBM. Initial NGS analysis showed no mutations in the IDH1, IDH2 or H3F3 genes, but revealed a TERT promoter mutation and CDKN2A/2B and PTEN deletions. Postoperative treatment included radiotherapy and temozolomide. Despite initial management, recurrence occurred four months post-diagnosis, confirmed by MRI and histology. A second surgery identified a novel FGFR3-FASN fusion, alongside increased Ki67 expression. The recurrence was managed with regorafenib and bevacizumab, though complications like hand–foot syndrome and radiation necrosis arose. Despite initial improvement, the patient died 15 months after diagnosis. This case underscores the importance of understanding GBM's molecular landscape for effective treatment strategies. The novel FGFR3-FASN fusion suggests potential implications for GBM recurrence and lipid metabolism. Further studies are warranted to explore FGFR3-FASN's role in GBM and its therapeutic targeting. [ABSTRACT FROM AUTHOR]

Published
2024
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8. A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency

Author

Marín, Fátima, primary, Canet-Hermida, Júlia, additional, Bianchi, Vanessa, additional, Chung, Jiil, additional, Wimmer, Katharina, additional, Foulkes, William, additional, Pérez-Alonso, Vanesa, additional, Domínguez-Pinilla, Nerea, additional, Sábado, Constantino, additional, Vázquez-Gómez, Felisa, additional, Molinés, Antonio, additional, Fioravantti, Victoria, additional, Carrasco, Estela, additional, Stengs, Lucie, additional, Edwards, Melissa, additional, Negm, Logine, additional, Das, Anirban, additional, Aronson, Melyssa, additional, Pastor, Ángela, additional, Rueda, Daniel, additional, González-Granado, Luis Ignacio, additional, Tabori, Uri, additional, Capellá, Gabriel, additional, and Pineda, Marta, additional

Published
2024
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12. How a pediatric neuro-oncology unit was managed in Madrid during the first wave of the COVID-19 pandemic

Author

Vila, Rocio, Vázquez-Gómez, Felisa, Fioravantti, Victoria, García-Fernandez, Miriam, and Lassaletta, Alvaro

Abstract

Introduction: During the first wave of the coronavirus disease 2019 (COVID-19) pandemic, infection prevention measures were enforced at our Pediatric Neuro-Oncology unit.Methods: A retrospective study analyzing patients booked in this unit during lockdown was performed to describe its performance.Results: There were 438 consultations for 123 patients (320 on-site/118 telephone). Eight new diagnoses were made, with one significant delay. Only one patient tested positive for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Delay in imaging testing occurred in 15 patients. Chemotherapy was delayed in one case. There were no delays in radiotherapy.Conclusions: Measures implemented were effective in minimizing the risk of COVID-19 infection, achieving continuity in diagnoses and treatment, and avoiding delays that could impact survival.

Published
2022
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13. Laser therapy in ocular involvement after diagnosis of incontinentia pigmenti in a child

Author

Vázquez Gómez, Felisa, Díaz Ruiz, Laura, Bergón Sendín, Elena, Barceló Mendiguchía, Ana, and Tejada Palacios, Pilar

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, Laser therapy, Lesiones del sistema vascular, Incontinentia pigmenti, Terapia por láser, Pediatría, sense organs, Eye manifestations, Manifestaciones oculares, Pediatrics, Incontinencia pigmentaria, Vascular system injuries
Abstract

La incontinencia pigmenti es un trastorno neurocutàneo raro, con una frecuencia de 1 en 40 000 recién nacidos, de etiología genética asociada a mutaciones en el gen IKBKG, localizado en Xq28, con herencia dominante ligada al X. Tiene una presentación clínica de manifestaciones muy variables detectadas desde la etapa neonatal y puede asociar afectación cutànea, dental, ocular y neurológica, y cada una de estas con un diagnóstico diferencial distinto. Se presenta a una paciente pediàtrica con diagnóstico de incontinencia pigmenti a la semana de vida. En la evaluación oftalmológica inicial, se observaron lesiones vasculares retinianas. Se decidió el tratamiento con làser, con buenos resultados, y se consiguió estabilizar la visión. Incontinentia pigmenti is a rare neurocutaneous disorder with a frequency of 1 in 40,000 newborn; it is associated with mutations in IKBKG gene in Xq28, inherited as an X-linked dominant trait. Clinical manifestations detected since the newborn period are highly variable, with skin, teeth, eyes, and nervous system manifestations, and each with a characteristic differential diagnosis. We present a pediatric patient diagnosed with incontinentia pigmenti at the first week of life. In the initial ophthalmologic evaluation, retinal vascular lesions were observed. The outcomes of laser treatment of the ischemic peripheral retina were good and resulted in stability of vision.

Published
2019

16. Terapia láser en afectación ocular tras el diagnóstico de incontinencia pigmenti en una niña

Author

Vázquez Gómez, Felisa, Díaz Ruiz, Laura, Bergón Sendín, Elena, Barceló Mendiguchía, Ana, Tejada Palacios, Pilar, Vázquez Gómez, Felisa, Díaz Ruiz, Laura, Bergón Sendín, Elena, Barceló Mendiguchía, Ana, and Tejada Palacios, Pilar

Abstract

Recibido: 4-2-2018; Aceptado: 6-12-2018, La incontinencia pigmenti es un trastorno neurocutáneo raro, con una frecuencia de 1 en 40 000 recién nacidos, de etiología genética asociada a mutaciones en el gen IKBKG, localizado en Xq28, con herencia dominante ligada al X. Tiene una presentación clínica de manifestaciones muy variables detectadas desde la etapa neonatal y puede asociar afectación cutánea, dental, ocular y neurológica, y cada una de estas con un diagnóstico diferencial distinto. Se presenta a una paciente pediátrica con diagnóstico de incontinencia pigmenti a la semana de vida. En la evaluación oftalmológica inicial, se observaron lesiones vasculares retinianas. Se decidió el tratamiento con láser, con buenos resultados, y se consiguió estabilizar la visión., Incontinentia pigmenti is a rare neurocutaneous disorder with a frequency of 1 in 40,000 newborn; it is associated with mutations in IKBKG gene in Xq28, inherited as an X-linked dominant trait. Clinical manifestations detected since the newborn period are highly variable, with skin, teeth, eyes, and nervous system manifestations, and each with a characteristic differential diagnosis. We present a pediatric patient diagnosed with incontinentia pigmenti at the first week of life. In the initial ophthalmologic evaluation, retinal vascular lesions were observed. The outcomes of laser treatment of the ischemic peripheral retina were good and resulted in stability of vision., Unidad Docente de Inmunología, Oftalmología y ORL, Fac. de Óptica y Optometría, TRUE, pub

Published
2019

19. [Laser therapy in ocular involvement after diagnosis of incontinentia pigmenti in a child].

Author

Vázquez Gómez F, Díaz Ruiz L, Bergón Sendín E, Barceló Mendiguchía A, and Tejada Palacios P

Subjects
Diagnosis, Differential, Female, Humans, Incontinentia Pigmenti diagnosis, Infant, Newborn, Retinal Diseases diagnosis, Retinal Diseases etiology, Treatment Outcome, Incontinentia Pigmenti complications, Laser Therapy methods, Retinal Diseases therapy
Abstract

Incontinentia pigmenti is a rare neurocutaneous disorder with a frequency of 1 in 40,000 newborn; it is associated with mutations in IKBKG gene in Xq28, inherited as an X-linked dominant trait. Clinical manifestations detected since the newborn period are highly variable, with skin, teeth, eyes, and nervous system manifestations, and each with a characteristic differential diagnosis. We present a pediatric patient diagnosed with incontinentia pigmenti at the first week of life. In the initial ophthalmologic evaluation, retinal vascular lesions were observed. The outcomes of laser treatment of the ischemic peripheral retina were good and resulted in stability of vision., Competing Interests: The authors report no conflicts of interest in this work., (Sociedad Argentina de Pediatría.)

Published
2019
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