Search Results - "Soto, Inmaculada"

Humanistic burden of haemophilia A without inhibitors: A cross‐sectional analysis of the HemoLIFE study by Álvarez‐Román, María Teresa, Nuñez Vazquez, Ramiro Jose, Benitez Hidalgo, Olga, Quintana Paris, Laura, Entrena Ureña, Laura, Lopez Jaime, Francisco Jose, De Corte‐Rodríguez, Hortensia, García Dasí, María, Bosch, Pau, Mingot Castellano, María Eva, Guerra Garaeta, Itziar, Soto‐Ortega, Inmaculada

“…Aim To evaluate the impact of haemophilia A without inhibitors on humanistic outcomes in patients and caregivers. Herein, we report a cross‐sectional analysis…”
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Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies by Bogliolo, Massimo, Pujol, Roser, Aza-Carmona, Miriam, Muñoz-Subirana, Núria, Rodriguez-Santiago, Benjamin, Casado, José Antonio, Rio, Paula, Bauser, Christopher, Reina-Castillón, Judith, Lopez-Sanchez, Marcos, Gonzalez-Quereda, Lidia, Gallano, Pia, Catalá, Albert, Ruiz-Llobet, Ana, Badell, Isabel, Diaz-Heredia, Cristina, Hladun, Raquel, Senent, Leonort, Argiles, Bienvenida, Bergua Burgues, Juan Miguel, Bañez, Fatima, Arrizabalaga, Beatriz, López Almaraz, Ricardo, Lopez, Monica, Figuera, Ángela, Molinés, Antonio, Pérez de Soto, Inmaculada, Hernando, Inés, Muñoz, Juan Antonio, Del Rosario Marin, Maria, Balmaña, Judith, Stjepanovic, Neda, Carrasco, Estela, Cuesta, Isabel, Cosuelo, José Miguel, Regueiro, Alexandra, Moraleda Jimenez, José, Galera-Miñarro, Ana Maria, Rosiñol, Laura, Carrió, Anna, Beléndez-Bieler, Cristina, Escudero Soto, Antonio, Cela, Elena, de la Mata, Gregorio, Fernández-Delgado, Rafael, Garcia-Pardos, Maria Carmen, Sáez-Villaverde, Raquel, Barragaño, Marta, Portugal, Raquel, Lendinez, Francisco, Hernadez, Ines, Vagace, José Manue, Tapia, Maria, Nieto, José, Garcia, Marta, Gonzalez, Macarena, Vicho, Cristina, Galvez, Eva, Valiente, Alberto, Antelo, Maria Luisa, Ancliff, Phil, Garcia, Francisco, Dopazo, Joaquin, Sevilla, Julian, Paprotka, Tobias, Pérez-Jurado, Luis Alberto, Bueren, Juan, Surralles, Jordi

“…Patients with Fanconi anaemia (FA), a rare DNA repair genetic disease, exhibit chromosome fragility, bone marrow failure, malformations and cancer…”
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Neonatal Screening for Sickle Cell Disease in Western Andalusia: Results and Lessons Learnt after 3 Years of Implementation by Núñez-Jurado, David, Payán-Pernía, Salvador, Álvarez-Ríos, Ana I, Jiménez-Jambrina, Margarita, Concepcion Pérez-De-Soto, Inmaculada, José Palma-Vallellano, Antonio, Zapata-Bautista, Rocío, Carlos Hernández-Castellet, José, Paz Garrastazul-Sánchez, Mari, Arqueros-Martínez, Víctor, Urbano-Ramos, María Del Mar, Abdelkader-Maanan, Mohamed, Raúl García-Lozano, José, Delgado-Pecellín, Carmen

“…The aim of this study was to present the results obtained in the Newborn Screening Program (NSP) for sickle cell disease (SCD) in western Andalusia and the…”
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Pathophysiology, Clinical Manifestations and Diagnosis of Immune Thrombocytopenia: Contextualization from a Historical Perspective by Martínez-Carballeira, Daniel, Bernardo, Ángel, Caro, Alberto, Soto, Inmaculada, Gutiérrez, Laura

“…Immune thrombocytopenia (ITP) is an autoimmune disease characterized by an isolated decrease in the platelet count and an increased risk of bleeding. The…”
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Spanish registry of hemoglobinopathies and rare anemias (REHem-AR): demographics, complications, and management of patients with β-thalassemia by Bardón-Cancho, Eduardo J., Marco-Sánchez, José Manuel, Benéitez-Pastor, David, Payán-Pernía, Salvador, Llobet, Anna Ruiz, Berrueco, Rubén, García-Morin, Marina, Beléndez, Cristina, Senent, Leonor, Acosta, María José Ortega, Pleguezuelos, Irene Peláez, Velasco, Pablo, Collado, Anna, Moreno-Carbonell, Marta, Argilés, Bienvenida, de Soto, Inmaculada Pérez, del Mar Bermúdez, María, Salido Fiérrez, Eduardo J., Blanco-Álvarez, Adoración, Navarro, Pablo González, Cela, Elena

“…Introduction The increase in the number of patients with hemoglobinopathies in Europe in recent decades highlights the need for more detailed epidemiological…”
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Treatment of Immune Thrombocytopenia: Contextualization from a Historical Perspective by Martínez-Carballeira, Daniel, Bernardo, Ángel, Caro, Alberto, Soto, Inmaculada, Gutiérrez, Laura

“…Immune thrombocytopenia (ITP) is an autoimmune disease characterized by an isolated decrease in platelet count and an increased risk of bleeding. The…”
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The impact of improving haemophilia A management within the Spanish National Healthcare System: a social return on investment analysis by Soto, Inmaculada, Mateo, José, García-Diego, Daniel-Aníbal, Gil, Beatriz, Ruiz-Beato, Elena, Ivanova, Yoana, Martín Lorenzo, Teresa, Maravilla-Herrera, Paulina, Hidalgo-Vega, Álvaro, Merino, María

“…Haemophilia A (HA) has been associated with poor health-related quality of life and a large economic burden, accentuated by severity, arthropathy, and…”
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MLL‐rearranged acute myeloid leukemia: Influence of the genetic partner in allo‐HSCT response and prognostic factor of MLL 3′ region mRNA expression by Burillo‐Sanz, Sergio, Morales‐Camacho, Rosario M., Caballero‐Velázquez, Teresa, Carrillo, Estrella, Sánchez, Javier, Pérez‐López, Olga, Pérez de Soto, Inmaculada, González Campos, José, Prats‐Martín, Concepción, Bernal, Ricardo, Vargas, María Teresa

“…Objective MLL gene is involved in more than 80 known genetic fusions in acute leukemia. To study the relevance of MLL partner gene and selected gene's…”
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Fostamatinib effectiveness and safety for immune thrombocytopenia in clinical practice by González-López, Tomás José, Bermejo-Vega, Nuria, Cardesa-Cabrera, Rocío, Martínez-Robles, Violeta, Aguilar-Monserrate, Gerardo, Pérez-Segura, Gloria, Domingo, Abel, Luis-Navarro, Josefa, Lakhwani, Sunil, Acedo, Natalia, Lozano, María Luisa, Bernat, Silvia, Torres-Tienza, Ana, Ruano, Ana, Jarque, Isidro, Galán, Pilar, Benet, Carmen, Marcellini, Shally, Jimenez-Bárcenas, Reyes, Martínez-Carballeira, Daniel, De Miguel-Llorente, Dunia, Perona-Blázquez, Alvaro, Gonzalez-Gascón, Isabel, Lopez-Ansoar, Elsa, Alonso-Alonso, José María, Bengochea-Casado, María Luisa, Díaz-Gálvez, Francisco Javier, Moretó, Ana, Moreno-Jiménez, Gemma, Hernández-Martin, Roberto, de Cabo, Erik, Dávila-Valls, Julio, Cuesta, Amalia, Pastoriza, Carmen, Hermida-Fernández, Gerardo Julio, García, Covadonga, Pozas-Mañas, Miguel Angel, Aguilar, Carlos, Fernandez-Jimenez, Dolores, Navas-Elorza, Begoña, López-Santamaría Castro, Carolina, Lorenzo, Alvaro, Ortín, Xavier, García, Marta, Piernas, Sonia, Díaz-Santa, Johana, Soto, Inmaculada, Provan, Drew, García-Donas Gabaldón, Gloria

“…•Similar to clinical trial results, fostamatinib has demonstrated a high efficacy rate for ITP in daily clinical practice conditions.•Fostamatinib is a…”
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Cambios paisajísticos y efectos medioambientales debidos a la agricultura intensiva en la Comarca de Campo de Cartagena-Mar Menor (Murcia) by Caballero Pedraza, Agustín, Romero Díaz, Asunción, Espinosa Soto, Inmaculada

“…El cultivo mediante invernaderos ha supuesto una de las mayores transformaciones agrícolas en el mundo, pero en especial en el sureste español. El objetivo…”
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Anxiety and Depression in Patients with Haemophilia a without Inhibitors and Their Caregivers Included in Hemolife, Non Interventional Study in the Spanish Population by Alvarez Román, María Teresa, Garcia Dasi, Maria, Entrena Ureña, Laura, Benitez Hidalgo, Olga, Nunez Vazquez, Ramiro Jose, de la Corte, Hortensia, Etxaide Aranbarri, Alaitz, Guerra, Itziar, Mingot, Maria Eva, Soto, Inmaculada

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Rare bleeding disorders: Real-world data from a Spanish tertiary hospital by Martínez-Carballeira, Daniel, Caro, Alberto, Bernardo, Ángel, Corte, José Ramón, Iglesias, José Carlos, Hernández de Castro, Isabel Asunción, Gutiérrez, Laura, Soto, Inmaculada

“…Due to their low prevalence, rare bleeding disorders (RBDs) remain poorly characterized. To gain insight of RBDs through our clinical practice. Retrospective…”
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Primary and secondary immune thrombocytopenia (ITP): Time for a rethink by González-López, Tomás José, Provan, Drew, Bárez, Abelardo, Bernardo-Gutiérrez, Angel, Bernat, Silvia, Martínez-Carballeira, Daniel, Jarque-Ramos, Isidro, Soto, Inmaculada, Jiménez-Bárcenas, Reyes, Fernández-Fuertes, Fernando

“…There are not many publications that provide a holistic view of the management of primary and secondary ITP as a whole, reflecting the similarities and…”
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Efficacy and Safety of Fostamatinib for Immune Thrombocytopenia in Clinical Practice in Spain: Interim Results of Fostames, Our National Fostamatinib Registry by Gonzalez-Lopez, Tomas Jose, Perez Segura, Gloria, Domingo, Abel, Lopez Ansoar, Elsa, Diaz Galvez, Francisco Javier, Jimenez Barcenas, Reyes, Martinez Carballeira, Daniel, De Miguel Llorente, Dunia, Perona Blazquez, Alvaro, Aguilar-Monserrate, Gerardo, Dávila-Valls, Julio, Gonzalez Gascon, Isabel, Cuesta, Amalia, Bengochea Casado, María Luisa, Hermida Fernandez, Gerardo Julio, Alonso Alonso, Jose Maria, Pozas Mañas, Miguel Angel, Torres-Tienza, Ana, Aguilar, Carlos, Fernandez-Jimenez, Dolores, Soto, Inmaculada, Bernat, Silvia

“…Background: Fostamatinib is a splenic tyrosine kinase (SYK) inhibitor that prevents antibody-mediated platelet destruction. This drug has demonstrated to be…”
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Correction to: Spanish registry of hemoglobinopathies and rare anemias (REHem- AR): demographics, complications, and management of patients with β-thalassemia by Bardón-Cancho, Eduardo J., Marco-Sánchez, José Manuel, Benéitez-Pastor, David, Payán-Pernía, Salvador, Llobet, Anna Ruiz, Berrueco, Rubén, García-Morin, Marina, Beléndez, Cristina, Senent, Leonor, Acosta, María José Ortega, Pleguezuelos, Irene Peláez, Velasco, Pablo, Collado, Anna, Moreno-Carbonell, Marta, Argilés, Bienvenida, de Soto, Inmaculada Pérez, del Mar Bermúdez, María, Salido Fiérrez, Eduardo J., Blanco-Álvarez, Adoración, Navarro, Pablo González, Cela, Elena

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Prognostic significance of mutation type and chromosome fragility in Fanconi anemia by Ramírez, María José, Pujol, Roser, Minguillón, Jordi, Bogliolo, Massimo, Persico, Ilaria, Cavero, Debora, de la Cal, Aurora, Río, Paula, Navarro, Susana, Casado, José Antonio, Bailador, Almudena, de la Fuente, Antonio Sanchez, de Heredia, Miguel López, Almazán, Francisco, Antelo, M. Luisa, Argilés, Bienvenida, Badell, Isabel, Baragaño, Marta, Beléndez, Cristina, Bermúdez, Mar, Bernués, Marta, Buedo, María Isabel, Carrasco, Estela, Català, Albert, Costa, Dolors, Cuesta, Isabel, Fernandez‐Delgado, Rafael, Fernández‐Teijeiro, Ana, Figuera, Ángela, García, Marta, Gondra, Ainhoa, González, Macarena, Muñiz, Soledad González, Hernández‐Rodríguez, Ines, Ibañez, Fátima, Kelleher, Nicholas John, Lendínez, Francisco, López, Mónica, López‐Almaraz, Ricardo, Marchante, Inmaculada, Mendoza, Carmen, Nieto, José, Ojeda, Emilio, Payán‐Pernía, Salvador, Peláez, Irene, de Soto, Inmaculada Pérez, Portugal, Raquel, Ramos‐Arroyo, María A., Regueiro, Alexandra, Rodríguez, Ana, Rosell, Jordi, Saez, Raquel, Sánchez, José, Sánchez, Martha, Senent, MªLeonor, Tapia, María, Trujillo‐Quintero, Juan Pablo, Vagace, José Manuel, Verdú‐Amorós, Jaime, Verdugo, Victória, Vidales, Isabel, Villarreal, Jasson, Díaz‐de‐Heredia, Cristina, Sevilla, Julián, Bueren, Juan Antonio, Surrallés, Jordi

“…Fanconi anemia (FA) is a rare genetic disease characterized by high phenotypic and genotypic heterogeneity, and extreme chromosome fragility. To better…”
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Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): comprehensive genetic analysis by next-generation sequencing of 480 patients by Borràs, Nina, Batlle, Javier, Pérez-Rodríguez, Almudena, López-Fernández, María Fernanda, Rodríguez-Trillo, Ángela, Lourés, Esther, Cid, Ana Rosa, Bonanad, Santiago, Cabrera, Noelia, Moret, Andrés, Parra, Rafael, Mingot-Castellano, María Eva, Balda, Ignacia, Altisent, Carme, Pérez-Montes, Rocío, Fisac, Rosa María, Iruín, Gemma, Herrero, Sonia, Soto, Inmaculada, de Rueda, Beatriz, Jiménez-Yuste, Víctor, Alonso, Nieves, Vilariño, Dolores, Arija, Olga, Campos, Rosa, Paloma, María José, Bermejo, Nuria, Berrueco, Rubén, Mateo, José, Arribalzaga, Karmele, Marco, Pascual, Palomo, Ángeles, Sarmiento, Lizheidy, Iñigo, Belén, Nieto, María Del Mar, Vidal, Rosa, Martínez, María Paz, Aguinaco, Reyes, César, Jesús María, Ferreiro, María, García-Frade, Javier, Rodríguez-Huerta, Ana María, Cuesta, Jorge, Rodríguez-González, Ramón, García-Candel, Faustino, Cornudella, Rosa, Aguilar, Carlos, Vidal, Francisco, Corrales, Irene

“…Molecular diagnosis of patients with von Willebrand disease is pending in most populations due to the complexity and high cost of conventional molecular…”
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Use of eltrombopag for secondary immune thrombocytopenia in clinical practice by González‐López, Tomás J., Alvarez‐Román, María T., Pascual, Cristina, Sánchez‐González, Blanca, Fernández‐Fuentes, Fernando, Pérez‐Rus, Gloria, Hernández‐Rivas, José A., Bernat, Silvia, Bastida, José M., Martínez‐Badas, María P., Martínez‐Robles, Violeta, Soto, Inmaculada, Olivera, Pavel, Bolaños, Estefanía, Alonso, Rafael, Entrena, Laura, Gómez‐Nuñez, Marta, Alonso, Arancha, Yera Cobo, María, Caparrós, Isabel, Tenorio, María, Arrieta‐Cerdán, Esther, Lopez‐Ansoar, Elsa, García‐Frade, Javier, González‐Porras, José R.

“…Summary Eltrombopag is a second‐line treatment in primary immune thrombocytopenia (ITP). However, its role in secondary ITP is unknown. We evaluated the…”
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Unraveling the effect of silent, intronic and missense mutations on VWF splicing: contribution of next generation sequencing in the study of mRNA by Borràs, Nina, Orriols, Gerard, Batlle, Javier, Pérez-Rodríguez, Almudena, Fidalgo, Teresa, Martinho, Patricia, López-Fernández, María Fernanda, Rodríguez-Trillo, Ángela, Lourés, Esther, Parra, Rafael, Altisent, Carme, Cid, Ana Rosa, Bonanad, Santiago, Cabrera, Noelia, Moret, Andrés, Mingot-Castellano, María Eva, Navarro, Nira, Pérez-Montes, Rocío, Marcellin, Sally, Moreto, Ana, Herrero, Sonia, Soto, Inmaculada, Fernández-Mosteirín, Núria, Jiménez-Yuste, Víctor, Alonso, Nieves, de Andrés-Jacob, Aurora, Fontanes, Emilia, Campos, Rosa, Paloma, María José, Bermejo, Nuria, Berrueco, Ruben, Mateo, José, Arribalzaga, Karmele, Marco, Pascual, Palomo, Ángeles, Quismondo, Nerea Castro, Iñigo, Belén, Nieto, María Del Mar, Vidal, Rosa, Martínez, María Paz, Aguinaco, Reyes, Tenorio, Jesús María, Ferreiro, María, García-Frade, Javier, Rodríguez-Huerta, Ana María, Cuesta, Jorge, Rodríguez-González, Ramón, García-Candel, Faustino, Dobón, Manuela, Aguilar, Carlos, Vidal, Francisco, Corrales, Irene

“…Large studies in von Willebrand disease patients, including Spanish and Portuguese registries, led to the identification of >250 different mutations. It is a…”
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Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES): Proposal for a new diagnostic paradigm by Batlle, Javier, Pérez-Rodríguez, Almudena, Corrales, Irene, López-Fernández, Maria Fernanda, Rodríguez-Trillo, Ángela, Lourés, Esther, Cid, Ana Rosa, Bonanad, Santiago, Cabrera, Noelia, Moret, Andrés, Parra, Rafael, Mingot-Castellano, María Eva, Balda, Ignacia, Altisent, Carmen, Pérez-Montes, Rocío, Fisac, Rosa María, Iruín, Gemma, Herrero, Sonia, Soto, Inmaculada, de Rueda, Beatriz, Jiménez-Yuste, Victor, Alonso, Nieves, Vilariño, Dolores, Arija, Olga, Campos, Rosa, Paloma, María José, Bermejo, Nuria, Toll, Teresa, Mateo, José, Arribalzaga, Karmele, Marco, Pascual, Palomo, Ángeles, Sarmiento, Lizheidy, Iñigo, Belén, Nieto, María del Mar, Vidal, Rosa, Martínez, María Paz, Aguinaco, Reyes, César, Jesús María, Ferreiro, María, García-Frade, Javier, Rodríguez-Huerta, Ana María, Cuesta, Jorge, Rodríguez-González, Ramón, García-Candel, Faustino, Cornudella, Rosa, Aguilar, Carlos, Borràs, Nina, Vidal, Francisco

“…The diagnosis of von Willebrand disease (VWD) remains difficult in a significant proportion of patients. A Spanish multicentre study investigated a cohort of…”
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