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1. Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes

Author

Elena G. Arias-Salgado, Eva Galvez, Lurdes Planas-Cerezales, Laura Pintado-Berninches, Elena Vallespin, Pilar Martinez, Jaime Carrillo, Laura Iarriccio, Anna Ruiz-Llobet, Albert Catalá, Isabel Badell-Serra, Luis I. Gonzalez-Granado, Andrea Martín-Nalda, Mónica Martínez-Gallo, Ana Galera-Miñarro, Carmen Rodríguez-Vigil, Mariana Bastos-Oreiro, Guiomar Perez de Nanclares, Virginia Leiro-Fernández, Maria-Luz Uria, Cristina Diaz-Heredia, Claudia Valenzuela, Sara Martín, Belén López-Muñiz, Pablo Lapunzina, Julian Sevilla, María Molina-Molina, Rosario Perona, and Leandro Sastre

Subjects
Telomere, Dyskeratosis congenita, Pulmonary fibrosis, Aplastic anemia, DNA repair, Telomeropathies, Medicine
Abstract

Abstract Background Telomeres are nucleoprotein structures present at the terminal region of the chromosomes. Mutations in genes coding for proteins involved in telomere maintenance are causative of a number of disorders known as telomeropathies. The genetic origin of these diseases is heterogeneous and has not been determined for a significant proportion of patients. Methods This article describes the genetic characterization of a cohort of patients. Telomere length was determined by Southern blot and quantitative PCR. Nucleotide variants were analyzed either by high-resolution melting analysis and Sanger sequencing of selected exons or by massive sequencing of a panel of genes. Results Forty-seven patients with telomere length below the 10% of normal population, affected with three telomeropathies: dyskeratosis congenita (4), aplastic anemia (22) or pulmonary fibrosis (21) were analyzed. Eighteen of these patients presented known pathogenic or novel possibly pathogenic variants in the telomere-related genes TERT, TERC, RTEL1, CTC1 and ACD. In addition, the analyses of a panel of 188 genes related to haematological disorders indicated that a relevant proportion of the patients (up to 35%) presented rare variants in genes related to DNA repair or in genes coding for proteins involved in the resolution of complex DNA structures, that participate in telomere replication. Mutations in some of these genes are causative of several syndromes previously associated to telomere shortening. Conclusion Novel variants in telomere, DNA repair and replication genes are described that might indicate the contribution of variants in these genes to the development of telomeropathies. Patients carrying variants in telomere-related genes presented worse evolution after diagnosis than the rest of patients analyzed.

Published
2019
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2. Factors that determine the loss of control when reducing therapy by steps in the treatment of moderate-severe asthma in standard clinical practice: A multicentre Spanish study

Author

López, Jesús Jiménez, Orenes, Miguel Ángel Moscardó, Montaño, Patricia Prieto, Toro, Miguel Torrecillas, Oliver, Begoña Cueva, Torres, Ángel Ferrer, Delgado, Purificación González, Rodríguez, Teodorikez Wilfox Jiménez, Auli, Brian Vila, Yebenes, Juan José Zapata, Berasategui, María Teresa Audicana, Jiménez, Marta Frias, Ruibio, Nieves Hurtado De Mendoza, Azagra, Marta Velasco, Fernández, Jose Antonio Álvarez, Sainz, Sara Acero, González, Rosa Mª Blanco, Nieves, María Estela Gómez, Carpio, Diego Aisa, Sellés, Núria Angrill, García, Cristina Berastegui, Lessmann, Astrid Crespo, Carrillo, David De La Rosa, Pla, Jordi Juanola, Giraldo, Alejandra López, Sánchez, Olga Luengo, Rivera, Carlos Martínez, Olondris, Pilar Martínez, Gall, Xavier Muñoz, Nogués, Ester Pinto, Coimerma, Francisco Planas, Carroz, Karina Portillo, Blanch, Antoni Riba, Ortún, Mª Luisa Rivera, Berenguer, Dan Sánchez, Batlles, Joan Serra, Mitjà, Pere Serra, Sagardía, Ana Sogo, Retes, Lorena Soto, Combas, Joan Valldeperas, Giralte, Xavier Vila, Zubeldia, Ignacio Ansotegui, Ercoreca, Ignacio Antepara, Peña, Miguel Herrerías, Pascual, María Milagros Iriberri, Michelena, Carmen Jaca, Castro, Adolfo Lahuerta, Legarreta, Amaia Laita, Llorente, Paula Losada, Prieto, Joaquina Prieto, Lorenzo, Vanessa Zorrilla, Gil, Lidia Alonso, Muñoz, Juan Pablo García, Durantez, Marisa Marcos, Miguel, Teresa Peña, Ahmida, Tahar, Izquierdo, María Isabel Alvarado, Olbah, Michael Alwakil, Muñoz, Aurelio Arnedillo, Núñez, Ignacio García, Fernández, Diego Gutiérrez, Camacho, Antonio Letran, Pellon, Luis Fernández, Miguel, Eva Maria Morchon, Portal, Félix Ortiz, Raducan, Isabela, Prats, Juan Antonio Royo, Segarra, María Dolores Salvador, Soler, Frederic Tatay, Naon, Alberto Levy, Bonilla, Pedro Galindo, Muñoz, Francisco Luis Gil, Calderón, Patricia Mata, Costa, Luis Manuel Entrenas, Aparicio, Marina Blanco, Pazos, Jose Manuel García, Paz, Vanessa García, Barcala, Francisco-Javier González, Sotes, Pilar Iriarte, Rodríguez, Pedro Jorge Marcos, Nieto, Fernando Molina, Orjales, Ramón Nuñez, Martín, Carracedo Sevillano, Antelo, Juan Suárez, Rodríguez, Julia Tábara, Español, Santiago Aparicio, Nieto, Carlos Sabadell, Talaverano, Gladis Sabater, Rodríguez, Mª Mar Escribano, López, José Fernando Florido, Jiménez, María Ángeles Lara, Vílchez, María José Rojas, Palacín, Susana Chic, Quintana, Silvia Dorronsoro, Echeverria, Jose Antonio Navarro, Guardia, Eduardo Figueroa De La, Jara, Belén Hinojosa, García, Victoria Moreno, Vazquez, Lucía Valverde, De Sus, Joaquín Cegoñino, Santonio, Jose, López, Juan Alfonso Almagro, Campillo, Eduardo Arcalá, Molina, Compaired Villa Jose María Cruz, Venegas, Antonia Dolores Soto, Martínez, Patricia Benito, Reinosa, Begoña Blanco, Parra, Beatriz Fernández, García, Domingo Fernández, Gutiérrez, Virginia Serrano, Lobera, Adolfo Velez Ruiz De, Alcon, Silvia Lara, González, Francisco Carballada, Fernández, Teresa González, Lázaro, Joaquín Martín, Macenlle, Noemí Mengual, Viteri, Soledad Alonso, Amerigo, Darío Antolín, Bobolea, Irina, Aguirre, M Del Puerto Cano, Contreras, Remedios Cardenas, Arias, Fernando Carrillo, Álvarez, Mercedes Cimarra, Martínez, Eva Belén De Higes, Campos, Rocío Magdalena Díaz, Cano, María Del Mar Gandolfo, Rodríguez, Leticia García, Tejada, Jose Andrés García Romero De, Mancebo, Eloina González, Seco, Emma González, Torralba, Fernando González, Santana, Aythamy Henríquez, Herrera, Pilar De Lys Herráez, Mosquete, María Ruth Herrero, Rodríguez, Pedro Landete, Ballesteros, Belén López-Muñiz, Vicente, Ester Mohedano, Chacón, Beatriz Morales, Fernández, Antonio Moreno, García, Esther Muñoz, Castillejo, Elena Ojeda, Serrano, Fernando Pedraza, Acevedo, Yesenia Peña Acevedo, Rojo, Raquel Pérez, Ruiz-Rico, Natividad Quílez, Pinedo, Ángela Ramos, Jiménez, Beatriz Rodríguez, Rodríguez, Mercedes Rodríguez, Ingelmo, Ana Rosado, Peña, Antonio Ruiz, González, María José Sánchez, Trujillo, María Jesús Trujillo, Fuertes, Laura Vázquez, Albelda, Concepción Vila, Meniz, Alexandra Yago, Grovas, Ricardo Ismael Aguilar Perez, Ramírez, José Alcázar Ramírez Alcázar, Muñoz, José Manuel Barceló, Manzanares, Miguel Bentabol, Martínez, Gustavo De Luiz, Luna, Francisco Linde De, Paez, Alfonso Miranda, Tejada, Ezequiel Ortega Sáenz De, Galo, Alicia Padilla, Cornejo, Manuel Pérez Estrada, Esojo, Carmen Soria, Alemán, Ángel Francisco Abellán, Rumayor, María Consuelo Alcalde, Espinosa, Rubén Andújar, Mora, Roberto Bernabeu, Lancharro, Francisco Javier Campano, Urra, Tamara Gutiérrez, Martín, Sonia Herrero, Lizaldre, Alfredo Resano, Quintas, R. Dacal, Martínez-Moragón, E., Delgado, J., Mogrovejo, S., and Fernández-Sánchez, T.

Published
2020
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3. Factores que condicionan la pérdida de control al reducir escalones terapéuticos en el tratamiento del asma moderada-grave en la práctica clínica habitual: estudio español multicéntrico

Author

Martínez-Moragón, E., Delgado, J., Mogrovejo, S., Fernández-Sánchez, T., Jesús, Jiménez López, Ángel, Moscardó Orenes Miguel, Patricia, Prieto Montaño, Miguel, Torrecillas Toro, Begoña, Cueva Oliver, Ángel, Ferrer Torres, Purificación, González Delgado, Wilfox, Jiménez Rodríguez Teodorikez, Brian, Vila Auli, José, Zapata Yebenes Juan, Teresa, Audicana Berasategui María, Marta, Frias Jiménez, Nieves, Hurtado de Mendoza Ruibio, Marta, Velasco Azagra, Antonio, Álvarez Fernández Jose, Sara, Acero Sainz, Rosa, Blanco González M., Estela, Gómez Nieves María, Diego, Aisa Carpio, Núria, Angrill Sellés, Cristina, Berastegui García, Astrid, Crespo Lessmann, David, De La Rosa Carrillo, Jordi, Juanola Pla, Alejandra, López Giraldo, Olga, Luengo Sánchez, Carlos, Martínez Rivera, Pilar, Martínez Olondris, Xavier, Muñoz Gall, Ester, Pinto Nogués, Francisco, Planas Coimerma, Karina, Portillo Carroz, Antoni, Riba Blanch, Luisa, Rivera Ortún M., Dan, Sánchez Berenguer, Joan, Serra Batlles, Pere, Serra Mitjà, Ana, Sogo Sagardía, Lorena, Soto Retes, Joan, Valldeperas Combas, Xavier, Vila Giralte, Ignacio, Ansotegui Zubeldia, Ignacio, Antepara Ercoreca, Miguel, Herrerías Peña, Milagros, Iriberri Pascual María, Carmen, Jaca Michelena, Adolfo, Lahuerta Castro, Amaia, Laita Legarreta, Paula, Losada Llorente, Joaquina, Prieto Prieto, Vanessa, Zorrilla Lorenzo, Lidia, Alonso Gil, Pablo, García Muñoz Juan, Marisa, Marcos Durantez, Teresa, Peña Miguel, Tahar, Ahmida, Isabel, Alvarado Izquierdo María, Michael, Alwakil Olbah, Aurelio, Arnedillo Muñoz, Ignacio, García Núñez, Diego, Gutiérrez Fernández, Antonio, Letran Camacho, Luis, Fernández Pellon, Maria, Morchon Miguel Eva, Félix, Ortiz Portal, Isabela, Raducan, Antonio, Royo Prats Juan, Dolores, Salvador Segarra María, Frederic, Tatay Soler, Alberto, Levy Naon, Pedro, Galindo Bonilla, Luis, Gil Muñoz Francisco, Patricia, Mata Calderón, Manuel, Entrenas Costa Luis, Marina, Blanco Aparicio, Manuel, García Pazos Jose, Vanessa, García Paz, Francisco-Javier, González Barcala, Pilar, Iriarte Sotes, Jorge, Marcos Rodríguez Pedro, Fernando, Molina Nieto, Ramón, Nuñez Orjales, Carracedo, Sevillano Martín, Juan, Suárez Antelo, Julia, Tábara Rodríguez, Santiago, Aparicio Español, Carlos, Sabadell Nieto, Gladis, Sabater Talaverano, Mar, Escribano Rodríguez M., Fernando, Florido López José, Ángeles, Lara Jiménez María, José, Rojas Vílchez María, Susana, Chic Palacín, Silvia, Dorronsoro Quintana, Antonio, Navarro Echeverria Jose, Eduardo, Figueroa de la Guardia, Belén, Hinojosa Jara, Victoria, Moreno García, Lucía, Valverde Vazquez, Joaquín, Cegoñino de Sus, Santonio, Compaired Villa Jose, Alfonso, Almagro López Juan, Eduardo, Arcalá Campillo, María, Cruz Molina Jose, Dolores, Soto Venegas Antonia, Patricia, Benito Martínez, Begoña, Blanco Reinosa, Beatriz, Fernández Parra, Domingo, Fernández García, Virginia, Serrano Gutiérrez, Adolfo, Velez Ruiz de Lobera, Silvia, Lara Alcon, Francisco, Carballada González, Teresa, González Fernández, Joaquín, Martín Lázaro, Noemí, Mengual Macenlle, Soledad, Alonso Viteri, Darío, Antolín Amerigo, Irina, Bobolea, Puerto, Cano Aguirre M. del, Remedios, Cardenas Contreras, Fernando, Carrillo Arias, Mercedes, Cimarra Álvarez, Belén, De Higes Martínez Eva, Magdalena, Díaz Campos Rocío, Mar, Gandolfo Cano María del, Leticia, García Rodríguez, Andrés, García Romero de Tejada Jose, Eloina, González Mancebo, Emma, González Seco, Fernando, González Torralba, Aythamy, Henríquez Santana, Lys, Herráez Herrera Pilar de, Ruth, Herrero Mosquete María, Pedro, Landete Rodríguez, Belén, López-Muñiz Ballesteros, Ester, Mohedano Vicente, Beatriz, Morales Chacón, Antonio, Moreno Fernández, Esther, Muñoz García, Elena, Ojeda Castillejo, Fernando, Pedraza Serrano, Yesenia, Peña Acevedo Acevedo, Raquel, Pérez Rojo, Natividad, Quílez Ruiz-Rico, Ángela, Ramos Pinedo, Beatriz, Rodríguez Jiménez, Mercedes, Rodríguez Rodríguez, Ana, Rosado Ingelmo, Antonio, Ruiz Peña, José, Sánchez González María, Jesús, Trujillo Trujillo María, Laura, Vázquez Fuertes, Concepción, Vila Albelda, Alexandra, Yago Meniz, Ismael, Aguilar Perez Grovas Ricardo, José, Alcázar Ramírez Alcázar Ramírez, Manuel, Barceló Muñoz José, Miguel, Bentabol Manzanares, Gustavo, De Luiz Martínez, Francisco, Linde de Luna, Alfonso, Miranda Paez, Ezequiel, Ortega Sáenz de Tejada, Alicia, Padilla Galo, Manuel, Pérez Estrada Cornejo, Carmen, Soria Esojo, Francisco, Abellán Alemán Ángel, Consuelo, Alcalde Rumayor María, Rubén, Andújar Espinosa, Roberto, Bernabeu Mora, Javier, Campano Lancharro Francisco, Tamara, Gutiérrez Urra, Sonia, Herrero Martín, Alfredo, Resano Lizaldre, and Raquel, Dacal Quintas

Published
2020
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4. Impact of COVID-19 Infection on Patients with Preexisting Interstitial Lung Disease: A Spanish Multicentre Study

Author

Elisa Martínez-Besteiro, María Molina-Molina, Anna Michela Gaeta, Myriam Aburto, Álvaro Casanova, Juan Rigual Bobillo, Sandra Orozco, Raquel Pérez Rojo, Raúl Godoy, Belén López-Muñiz Ballesteros, Erwin Javier Pinillos Robles, Susana Sánchez Fraga, Teresa Peña Miguel, Eva Balcells, Rosalía Laporta, Jose Antonio Rodríguez Portal, Susana Herrera Lara, Eva Cabrera, Orlando Acosta, Adrián Peláez, and Claudia Valenzuela

Subjects
Pulmonary and Respiratory Medicine
Published
2023
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5. Criterios de cribado de la enfermedad pulmonar intersticial difusa asociada a la artritis reumatoide: propuesta de expertos basada en metodología Delphi

Author

Javier Narváez, Myriam Aburto, Daniel Seoane-Mato, Gema Bonilla, Orlando Acosta, Gloria Candelas, Esteban Cano-Jiménez, Iván Castellví, José María González-Ruiz, Héctor Corominas, Belén López-Muñiz, María Martín-López, Alejandro Robles-Pérez, Natalia Mena-Vázquez, José Antonio Rodríguez-Portal, Ana María Ortiz, Cristina Sabater-Abad, Isabel Castrejón, Raquel dos Santos, Sandra Garrote-Corral, Jesús Maese, Lucía Silva-Fernández, Santos Castañeda, and Claudia Valenzuela

Subjects
Rheumatology
Published
2023
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6. Screening criteria for interstitial lung disease associated to rheumatoid arthritis: Expert proposal based on Delphi methodology

Author

Javier Narváez, Myriam Aburto, Daniel Seoane-Mato, Gema Bonilla, Orlando Acosta, Gloria Candelas, Esteban Cano-Jiménez, Iván Castellví, José María González-Ruiz, Héctor Corominas, Belén López-Muñiz, María Martín-López, Alejandro Robles-Pérez, Natalia Mena-Vázquez, José Antonio Rodríguez-Portal, Ana María Ortiz, Cristina Sabater-Abad, Isabel Castrejón, Raquel dos Santos, Sandra Garrote-Corral, Jesús Maese, Lucía Silva-Fernández, Santos Castañeda, and Claudia Valenzuela

Subjects
General Medicine
Abstract

To develop a joint proposal for screening criteria of interstitial lung disease (ILD) in patients with rheumatoid arthritis (RA) and vice versa, which serves as a guidelines in patient referral between the Rheumatology and Pneumology departments to early detection of these patients.A systematic literature review was carried out on the risk factors for the development of ILD in RA patients, and for the referral criteria to Rheumatology for suspected early RA. Based on the available evidence, screening criteria were agreed using the Delphi method by a panel of pneumologists and rheumatologists with expertise in these pathologies.Screening criteria for ILD in patients with RA and for the early detection of RA in cases with ILD of unknown etiology have been developed. In both cases, a detection strategy was based on clinical risk factors. Recommendations also included the complementary tests to be carried out in the different clinical scenarios and on the periodicity that screening should be repeated.A selective screening strategy is recommended for the first time in the early diagnosis of patients with ILD-RA. This multidisciplinary proposal aims to solve some common clinical questions and help decision-making, although its usefulness to identify these patients with good sensitivity must be confirmed in a validation study.

Published
2023
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7. Trends and Outcomes in Lung Transplantation in Patients with and without Idiopathic Pulmonary Fibrosis in Spain during the Period 2016–2020

Author

Belén López-Muñiz Ballesteros, Ana Lopez-de-Andres, Rodrigo Jimenez-Garcia, Jose J. Zamorano-Leon, David Carabantes-Alarcon, Natividad Cuadrado-Corrales, Jose L. Del-Barrio, Napoleon Perez-Farinos, and Javier De Miguel-Díez

Subjects
Health Information Management, Leadership and Management, Health Policy, Health Informatics, lung transplant, idiopathic pulmonary fibrosis, incidence, complications, in-hospital mortality, COVID-19 pandemic
Abstract

(1) Background: This paper aims to assess temporal trends (2016–2020) in incidence, patient’s characteristics, complications, length of hospital stay (LOHS) and in-hospital mortality (IHM) among patients with and without idiopathic pulmonary fibrosis (IPF) undergoing lung transplantation (LTx). We also analyse the effect of the COVID-19 pandemic on LTx in these populations. (2) Methods: A retrospective, population-based observational study was conducted using the Spanish National Hospital Discharge Database. Multivariable adjustment was conducted with logistic regression to analyse the IHM. (3) Results: We identified 1777 admissions for LTx during the study period, of which 573 (32.2%) were performed in patients with IPF. The number of hospital admissions for LTx rose from 2016 to 2020, both in patients with and without IPF, but a marked reduction was observed from year 2019 to year 2020. Over time, the proportion of single LTx decreased and bilateral LTx increased significantly in both groups. The incidence of LTx complications increased significantly over time along with the increase in the incidence of IPF. No significant differences in the incidence of complications or in the IHM between patients with and without IPF were found. Suffering any complication of the LTx and pulmonary hypertension were conditions positively associated with IHM in patients with and without IPF. The IHM remained stable from 2016 to 2020 in both study populations and was not affected by the COVID pandemic. (4) Conclusions: Patients with IPF account for almost a third of all lung transplants. The number of LTx increased over time in patients with and without IPF, but a marked reduction was observed from 2019 to 2020. Although the proportion of LTx complications increased significantly over time in both groups, the IHM did not change. IPF was not associated with increased complications or IHM after LTx.

Published
2023
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8. Sex Differences in the Incidence and Outcomes of Patients Hospitalized by Idiopathic Pulmonary Fibrosis (IPF) in Spain from 2016 to 2019

Author

Marta Lopez-Herranz, Valentín Hernández-Barrera, Rodrigo Jiménez-García, Javier de Miguel-Díez, Isabel Jiménez-Trujillo, David Carabantes-Alarcon, Belén López-Muñiz Ballesteros, and Ana López-de-Andrés

Subjects
medicine.medical_specialty, medicine.medical_treatment, Article, Idiopathic pulmonary fibrosis, Internal medicine, medicine, Lung transplantation, sex, Neumología, Mechanical ventilation, business.industry, Incidence (epidemiology), General Medicine, respiratory system, medicine.disease, idiopathic pulmonary fibrosis, Pulmonary hypertension, Comorbidity, Pulmonary embolism, respiratory tract diseases, Pneumonia, Spain, incidence, Medicine, business, in-hospital mortality
Abstract

(1) Background: To assess sex differences in the incidence, characteristics, procedures and outcomes of patients admitted with idiopathic pulmonary fibrosis (IPF), and to analyze variables associated with in-hospital mortality (IHM). (2) Methods: We analyzed data collected by the Spanish National Hospital Discharge Database, 2016–2019. (3) Results: We identified 13,278 hospital discharges (66.4% men) of IPF (primary diagnosis 32.33%, secondary diagnosis: 67.67%). Regardless of the diagnosis position, IPF incidence was higher among men than women, increasing with age. Men had 2.74 times higher IPF incidence than women. Comorbidity was higher for men in either primary or secondary diagnosis. After matching, men had higher prevalence of pulmonary embolism and pneumonia, and women of congestive heart failure, dementia, rheumatoid disease and pulmonary hypertension. Invasive ventilation, bronchoscopy and lung transplantation were received more often by men than women. IHM was higher among men with IPF as primary diagnosis than among women and increased with age in both sexes and among those who suffered cancer, pneumonia or required mechanical ventilation. (4) Conclusions: Incidence of IPF was higher among men than women, as well as comorbidity and use of bronchoscopy, ventilation and lung transplantation. IHM was worse among men than women with IPF as primary diagnosis, increasing with age, cancer, pneumonia or mechanical ventilation use.

Published
2021
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9. Sex Differences in Temporal Trends in Hospitalizations and In-Hospital Mortality in Patients with Sarcoidosis in Spain from 2001 to 2020

Author

Belén López-Muñiz Ballesteros, Concepción Noriega, Ana Lopez-de-Andres, Rodrigo Jimenez-Garcia, Jose J. Zamorano-Leon, David Carabantes-Alarcon, and Javier de Miguel-Díez

Subjects
Medicina, General Medicine, sarcoidosis, sex, hospitalizations, in-hospital mortality, Spain, Neumología
Abstract

(1) Background: We aimed to analyze temporal trends in hospitalization and in-hospital mortality (IHM) in patients with sarcoidosis in Spain from 2001–2020. (2) Methods: Using the Spanish National Hospital Discharge Database, we included patients (aged ≥ 20 years) hospitalized with a sarcoidosis code in any diagnostic field. (3) Results: We included 44,195 hospitalizations with sarcoidosis (56.34% women). The proportion of women decreased over time, from 58.76% in 2001 and 2002 to 52.85% in 2019 and 2020 (p < 0.001). The crude rates per 100,000 inhabitants increased by 4.02% per year among women and 5.88% among men. These increments were confirmed using Poisson regression analysis, which yielded an IRR of 1.03; 95% CI 1.01–1.04 for women and 1.04; 95% CI 1.02–1.06 for men. During the study period, no significant sex differences in IHM were recorded. Older age, COVID-19, respiratory failure, and the need for mechanical ventilation were independent predictors of IHM in men and women hospitalized with sarcoidosis, with IHM remaining stable over time. (4) Conclusions: The number of hospital admissions among patients with sarcoidosis in Spain increased threefold from 2001 to 2020. Although the incidence rates were higher in women, the trend followed that the incidence rates between sexes became closer. IHM was similar among men and women, with no significant change over time in either sex after multivariable analysis.

Published
2022
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10. Caracteristics of a Prospective Cohort of Patients with IPAF (Interstitial Pneumonia with Autoimmune Features) by Neumologists and Reumatologists of Madrid. IPAF-NEREM Study

Author

Gemma María Mora Ortega, Rosalía Laporta Hernández, Mª Asuncion Nieto Barbero, Fredeswinda Romero Bueno, Belén López Muñiz Ballesteros, Lydia Abasolo Alcazar, Olga Sánchez Pernaute, Laura Cebrián Martínez, Cristina Vadillo Font, Mª Jesús Rodríguez-Nieto, Tatiana Cobo Ibánez, and Mª Teresa Río Martínez

Subjects
medicine.medical_specialty, business.industry, Internal medicine, Medicine, Interstitial pneumonia, Prospective cohort study, business
Published
2020
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11. Factors that determine the loss of control when reducing therapy by steps in the treatment of moderate-severe asthma in standard clinical practice: A multicentre Spanish study

Author

Martínez-Moragón, E., primary, Delgado, J., additional, Mogrovejo, S., additional, Fernández-Sánchez, T., additional, López, Jesús Jiménez, additional, Orenes, Miguel Ángel Moscardó, additional, Montaño, Patricia Prieto, additional, Toro, Miguel Torrecillas, additional, Oliver, Begoña Cueva, additional, Torres, Ángel Ferrer, additional, Delgado, Purificación González, additional, Rodríguez, Teodorikez Wilfox Jiménez, additional, Auli, Brian Vila, additional, Yebenes, Juan José Zapata, additional, Berasategui, María Teresa Audicana, additional, Jiménez, Marta Frias, additional, Ruibio, Nieves Hurtado De Mendoza, additional, Azagra, Marta Velasco, additional, Fernández, Jose Antonio Álvarez, additional, Sainz, Sara Acero, additional, González, Rosa Mª Blanco, additional, Nieves, María Estela Gómez, additional, Carpio, Diego Aisa, additional, Sellés, Núria Angrill, additional, García, Cristina Berastegui, additional, Lessmann, Astrid Crespo, additional, Carrillo, David De La Rosa, additional, Pla, Jordi Juanola, additional, Giraldo, Alejandra López, additional, Sánchez, Olga Luengo, additional, Rivera, Carlos Martínez, additional, Olondris, Pilar Martínez, additional, Gall, Xavier Muñoz, additional, Nogués, Ester Pinto, additional, Coimerma, Francisco Planas, additional, Carroz, Karina Portillo, additional, Blanch, Antoni Riba, additional, Ortún, Mª Luisa Rivera, additional, Berenguer, Dan Sánchez, additional, Batlles, Joan Serra, additional, Mitjà, Pere Serra, additional, Sagardía, Ana Sogo, additional, Retes, Lorena Soto, additional, Combas, Joan Valldeperas, additional, Giralte, Xavier Vila, additional, Zubeldia, Ignacio Ansotegui, additional, Ercoreca, Ignacio Antepara, additional, Peña, Miguel Herrerías, additional, Pascual, María Milagros Iriberri, additional, Michelena, Carmen Jaca, additional, Castro, Adolfo Lahuerta, additional, Legarreta, Amaia Laita, additional, Llorente, Paula Losada, additional, Prieto, Joaquina Prieto, additional, Lorenzo, Vanessa Zorrilla, additional, Gil, Lidia Alonso, additional, Muñoz, Juan Pablo García, additional, Durantez, Marisa Marcos, additional, Miguel, Teresa Peña, additional, Ahmida, Tahar, additional, Izquierdo, María Isabel Alvarado, additional, Olbah, Michael Alwakil, additional, Muñoz, Aurelio Arnedillo, additional, Núñez, Ignacio García, additional, Fernández, Diego Gutiérrez, additional, Camacho, Antonio Letran, additional, Pellon, Luis Fernández, additional, Miguel, Eva Maria Morchon, additional, Portal, Félix Ortiz, additional, Raducan, Isabela, additional, Prats, Juan Antonio Royo, additional, Segarra, María Dolores Salvador, additional, Soler, Frederic Tatay, additional, Naon, Alberto Levy, additional, Bonilla, Pedro Galindo, additional, Muñoz, Francisco Luis Gil, additional, Calderón, Patricia Mata, additional, Costa, Luis Manuel Entrenas, additional, Aparicio, Marina Blanco, additional, Pazos, Jose Manuel García, additional, Paz, Vanessa García, additional, Barcala, Francisco-Javier González, additional, Sotes, Pilar Iriarte, additional, Rodríguez, Pedro Jorge Marcos, additional, Nieto, Fernando Molina, additional, Orjales, Ramón Nuñez, additional, Martín, Carracedo Sevillano, additional, Antelo, Juan Suárez, additional, Rodríguez, Julia Tábara, additional, Español, Santiago Aparicio, additional, Nieto, Carlos Sabadell, additional, Talaverano, Gladis Sabater, additional, Rodríguez, Mª Mar Escribano, additional, López, José Fernando Florido, additional, Jiménez, María Ángeles Lara, additional, Vílchez, María José Rojas, additional, Palacín, Susana Chic, additional, Quintana, Silvia Dorronsoro, additional, Echeverria, Jose Antonio Navarro, additional, Guardia, Eduardo Figueroa De La, additional, Jara, Belén Hinojosa, additional, García, Victoria Moreno, additional, Vazquez, Lucía Valverde, additional, De Sus, Joaquín Cegoñino, additional, Santonio, Jose, additional, López, Juan Alfonso Almagro, additional, Campillo, Eduardo Arcalá, additional, Molina, Compaired Villa Jose María Cruz, additional, Venegas, Antonia Dolores Soto, additional, Martínez, Patricia Benito, additional, Reinosa, Begoña Blanco, additional, Parra, Beatriz Fernández, additional, García, Domingo Fernández, additional, Gutiérrez, Virginia Serrano, additional, Lobera, Adolfo Velez Ruiz De, additional, Alcon, Silvia Lara, additional, González, Francisco Carballada, additional, Fernández, Teresa González, additional, Lázaro, Joaquín Martín, additional, Macenlle, Noemí Mengual, additional, Viteri, Soledad Alonso, additional, Amerigo, Darío Antolín, additional, Bobolea, Irina, additional, Aguirre, M Del Puerto Cano, additional, Contreras, Remedios Cardenas, additional, Arias, Fernando Carrillo, additional, Álvarez, Mercedes Cimarra, additional, Martínez, Eva Belén De Higes, additional, Campos, Rocío Magdalena Díaz, additional, Cano, María Del Mar Gandolfo, additional, Rodríguez, Leticia García, additional, Tejada, Jose Andrés García Romero De, additional, Mancebo, Eloina González, additional, Seco, Emma González, additional, Torralba, Fernando González, additional, Santana, Aythamy Henríquez, additional, Herrera, Pilar De Lys Herráez, additional, Mosquete, María Ruth Herrero, additional, Rodríguez, Pedro Landete, additional, Ballesteros, Belén López-Muñiz, additional, Vicente, Ester Mohedano, additional, Chacón, Beatriz Morales, additional, Fernández, Antonio Moreno, additional, García, Esther Muñoz, additional, Castillejo, Elena Ojeda, additional, Serrano, Fernando Pedraza, additional, Acevedo, Yesenia Peña Acevedo, additional, Rojo, Raquel Pérez, additional, Ruiz-Rico, Natividad Quílez, additional, Pinedo, Ángela Ramos, additional, Jiménez, Beatriz Rodríguez, additional, Rodríguez, Mercedes Rodríguez, additional, Ingelmo, Ana Rosado, additional, Peña, Antonio Ruiz, additional, González, María José Sánchez, additional, Trujillo, María Jesús Trujillo, additional, Fuertes, Laura Vázquez, additional, Albelda, Concepción Vila, additional, Meniz, Alexandra Yago, additional, Grovas, Ricardo Ismael Aguilar Perez, additional, Ramírez, José Alcázar Ramírez Alcázar, additional, Muñoz, José Manuel Barceló, additional, Manzanares, Miguel Bentabol, additional, Martínez, Gustavo De Luiz, additional, Luna, Francisco Linde De, additional, Paez, Alfonso Miranda, additional, Tejada, Ezequiel Ortega Sáenz De, additional, Galo, Alicia Padilla, additional, Cornejo, Manuel Pérez Estrada, additional, Esojo, Carmen Soria, additional, Alemán, Ángel Francisco Abellán, additional, Rumayor, María Consuelo Alcalde, additional, Espinosa, Rubén Andújar, additional, Mora, Roberto Bernabeu, additional, Lancharro, Francisco Javier Campano, additional, Urra, Tamara Gutiérrez, additional, Martín, Sonia Herrero, additional, Lizaldre, Alfredo Resano, additional, and Quintas, R. Dacal, additional

Published
2020
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12. Comorbidities influence in idiopathic pulmonary fibrosis antifibrotic treatments

Author

Álvaro Casanova, Luis Gomez-Carrera, Maria Teresa Rio, Susana Padrones Sanchez, Claudia Valenzuela, Rosalía Laporta, Mª Asuncion Nieto Barbero, Javier Gaudo, Refipimad Neumomadrid, Belén López-Muñiz, Francisco Javier Gonzalez-Gamiz, and Mª Jesús Rodríguez-Nieto

Subjects
Idiopathic pulmonary fibrosis, medicine.medical_specialty, business.industry, Internal medicine, Medicine, business, medicine.disease, Gastroenterology
Published
2019
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13. Prevalence and clinical characteristics of patients with rheumatoid arthritis with interstitial lung disease using unstructured healthcare data and machine learning

Author

Raul Castellanos-Moreira, Diego Benavent, Alejandra López Robles, Ernesto Trallero-Araguás, Lucía Silva-Fernández, Juliana Restrepo, Jose A Román Ivorra, Maria Lopez Lasanta, Laura Cebrián, Leticia Lojo, Belén López-Muñíz, Julia Fernández-Melon, Belén Núñez, Raúl Veiga Cabello, Pilar Ahijado, Isabel De la Morena Barrio, Nerea Costas Torrijo, Belén Safont, Enrique Ornilla, Arantxa Campo, Jose L Andreu, Elvira Díez, Elena Bollo, David Vilanova, and Sara Luján Valdés

Subjects
Medicine
Abstract

Objectives Real-world data regarding rheumatoid arthritis (RA) and its association with interstitial lung disease (ILD) is still scarce. This study aimed to estimate the prevalence of RA and ILD in patients with RA (RAILD) in Spain, and to compare clinical characteristics of patients with RA with and without ILD using natural language processing (NLP) on electronic health records (EHR).Methods Observational case–control, retrospective and multicentre study based on the secondary use of unstructured clinical data from patients with adult RA and RAILD from nine hospitals between 2014 and 2019. NLP was used to extract unstructured clinical information from EHR and standardise it into a SNOMED-CT terminology. Prevalence of RA and RAILD were calculated, and a descriptive analysis was performed. Characteristics between patients with RAILD and RA patients without ILD (RAnonILD) were compared.Results From a source population of 3 176 165 patients and 64 241 683 EHRs, 13 958 patients with RA were identified. Of those, 5.1% patients additionally had ILD (RAILD). The overall age-adjusted prevalence of RA and RAILD were 0.53% and 0.02%, respectively. The most common ILD subtype was usual interstitial pneumonia (29.3%). When comparing RAILD versus RAnonILD patients, RAILD patients were older and had more comorbidities, notably concerning infections (33.6% vs 16.5%, p

Published
2024
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14. Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes

Author

Julián Sevilla, Mónica Martínez-Gallo, Laura Iarriccio, Elena Vallespín, Maria-Luz Uria, Lurdes Planas-Cerezales, Luis Ignacio Gonzalez-Granado, Virginia Leiro-Fernandez, Rosario Perona, Claudia Valenzuela, Albert Català, Sara Martín, Isabel Badell-Serra, Maria Molina-Molina, Carmen Rodríguez-Vigil, Pablo Lapunzina, Belén López-Muñiz, P. Martínez, Elena G Arias-Salgado, Guiomar Perez de Nanclares, Mariana Bastos-Oreiro, Leandro Sastre, Jaime Carrillo, Ana Maria Galera-Miñarro, Anna Ruiz-Llobet, Cristina Diaz-Heredia, Eva M. Galvez, Andrea Martín-Nalda, Laura Pintado-Berninches, Instituto de Salud Carlos III, CSIC - Unidad de Recursos de Información Científica para la Investigación (URICI), Federación Española de Enfermedades Raras, Sastre, Leandro, Sastre, Leandro [0000-0003-3613-5938], Institut Català de la Salut, [Arias-Salgado EG, Pintado-Berninches L] Instituto de Investigaciones Biomedicas CSIC/UAM, IDIPaz, Madrid, Spain. Advanced Medical Projects, Madrid, Spain. [Galvez E] Hematología y Hemoterapia, Hospital Niño Jesús, Madrid, Spain. [Planas-Cerezales L] Unitat ILD, Departament de Pneumologia, Hospital de Universitari de Bellvtige, Barcelona, Spain. Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), Barcelona, Spain. Universitat de Barcelona, Barcelona, Spain. [Vallespin E, Martinez P] Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Madrid, Spain. [Martín-Nalda A, Martínez-Gallo M, Uria ML, Diaz-Heredia C] Unitat de Patologia Infecciosa i Immunodeficiències de Pediatria, Hospital Universitari Vall d'Hebron, Barcelona, Spain. Vall d’Hebron Institut de Recerca, Barcelona, Spain. Departament de Biologia Cel•lular, Fisiologia i Immunologia, Universitat Autònoma de Barcelona, Barcelona, Spain, and Vall d'Hebron Barcelona Hospital Campus

Subjects
Male, 0301 basic medicine, DNA repair, lcsh:Medicine, Anèmia, Cells::Cellular Structures::Intracellular Space::Cell Nucleus::Cell Nucleus Structures::Intranuclear Space::Chromosomes::Chromosome Structures::Telomere [ANATOMY], 030105 genetics & heredity, Exon, 0302 clinical medicine, Respiratory Tract Diseases::Lung Diseases::Lung Diseases, Interstitial::Idiopathic Interstitial Pneumonias::Idiopathic Pulmonary Fibrosis [DISEASES], Pharmacology (medical), enfermedades respiratorias::enfermedades pulmonares::enfermedades pulmonares intersticiales::neumonías intersticiales idiopáticas::fibrosis pulmonar idiopática [ENFERMEDADES], Child, Telomerase, Telomere Shortening, Genetics (clinical), Pulmonary fibrosis, Genetics, Sanger sequencing, Telòmer, Otros calificadores::Otros calificadores::/genética [Otros calificadores], Dyskeratosis congenita, Telomeropathies, Anemia, Aplastic, Anèmia aplàstica - Aspectes genètics, Fibrosi pulmonar, Anemia, Exons, General Medicine, Telomere, Pedigree, Other subheadings::Other subheadings::/pathology [Other subheadings], Child, Preschool, symbols, Female, Otros calificadores::Otros calificadores::/patología [Otros calificadores], Aplastic anemia, Adult, Hemic and Lymphatic Diseases::Hematologic Diseases::Anemia::Anemia, Aplastic [DISEASES], Adolescent, Biology, Young Adult, 03 medical and health sciences, symbols.namesake, Other subheadings::Other subheadings::/genetics [Other subheadings], medicine, Humans, Fibrosi pulmonar - Aspectes genètics, enfermedades hematológicas y linfáticas::enfermedades hematológicas::anemia::anemia aplásica [ENFERMEDADES], Gene, Southern blot, Research, lcsh:R, Infant, medicine.disease, Human genetics, RNA, células::estructuras celulares::espacio intracelular::núcleo celular::estructuras del núcleo celular::espacio intranuclear::cromosomas::estructuras cromosómicas::telómero [ANATOMÍA], 030217 neurology & neurosurgery
Abstract

[Background]: Telomeres are nucleoprotein structures present at the terminal region of the chromosomes. Mutations in genes coding for proteins involved in telomere maintenance are causative of a number of disorders known as telomeropathies. The genetic origin of these diseases is heterogeneous and has not been determined for a significant proportion of patients., [Methods]: This article describes the genetic characterization of a cohort of patients. Telomere length was determined by Southern blot and quantitative PCR. Nucleotide variants were analyzed either by high-resolution melting analysis and Sanger sequencing of selected exons or by massive sequencing of a panel of genes., [Results]: Forty-seven patients with telomere length below the 10% of normal population, affected with three telomeropathies: dyskeratosis congenita (4), aplastic anemia (22) or pulmonary fibrosis (21) were analyzed. Eighteen of these patients presented known pathogenic or novel possibly pathogenic variants in the telomere-related genes TERT, TERC, RTEL1, CTC1 and ACD. In addition, the analyses of a panel of 188 genes related to haematological disorders indicated that a relevant proportion of the patients (up to 35%) presented rare variants in genes related to DNA repair or in genes coding for proteins involved in the resolution of complex DNA structures, that participate in telomere replication. Mutations in some of these genes are causative of several syndromes previously associated to telomere shortening., [Conclusion]: Novel variants in telomere, DNA repair and replication genes are described that might indicate the contribution of variants in these genes to the development of telomeropathies. Patients carrying variants in telomere-related genes presented worse evolution after diagnosis than the rest of patients analyzed., Funded by grants PI14–01495 and PI17–01401 (Fondo de Investigaciones Sanitarias, Instituto de Salud Carlos III, Spain supported by FEDER funds) and by one ACCI project from CIBERER and one grant to the FPI cohort from CIBERES., We acknowledge support of the publication fee by the CSIC Open Access Publication Support initiative through its Unit of Information Resources for Research (URICI).

Published
2019

15. Experience of patients treated with nintedanib in the Community of Madrid. REFIPIMAD Registry

Author

Mª Teresa Río Ramírez, Mª Asuncion Nieto Barbero, Teresa Bilbao-Goyoaga Arenas, Álvaro Casanova Espinosa, Mª Jesús Rodríguez Nieto, Rosalía Laporta Hernández, Belén López Muñiz Ballesteros, Luis Gómez Carrera, Gemma Mª Mora Ortega, and Claudia Valenzuela

Subjects
medicine.medical_specialty, business.industry, Lung biopsy, Pirfenidone, medicine.disease, Pulmonary function testing, Idiopathic pulmonary fibrosis, chemistry.chemical_compound, FEV1/FVC ratio, chemistry, Tolerability, DLCO, Internal medicine, medicine, Nintedanib, business, medicine.drug
Abstract

Introduction: REFIPIMAD registry was created to known the epidemiological and clinical characteristics of idiopathic pulmonary fibrosis patients (IPF) in the community of Madrid (Spain). Aim: To describe the clinical, safety and tolerability characteristics of IPF patients included in REFIPIMAD registry and treated with Nintedanib in real life. Results: 44 patients are described, mean age 66 ±7.9 years (range 79-44), 35 (79%) were men, 30 (68%) were smokers or ex-smokers with an average of 32 paq/year. Comorbidity: Previous AMI in 4 patients, 6 diabetes mellitus, 3 peptic ulcer and 1 peripheral arteriopathy. The HRCT radiological pattern was UIP in 28 (64%), possible UIP in 14 (32%) and 9 (20%) had associated emphysema. Surgical lung biopsy was performed in 14 patients. Pulmonary function tests at the beginning of the treatment were (mean ± SD [range]) FVC 83% ± 18 (55%-122%) of the predicted value, DLCO 59% ± 17 (34%-103%) of the predicted value, six-minute walk distance 479 ± 98 (98-479) metres, initial SpO2 94 ± 1.7, final SpO2 87 ± 4.4. The average treatment time was 10.3 ± 11.3 months (range 44.93-0.43); 20 patients (50%) suffer some side effects: diarrhea 15 (36%) , weight loss 9 (21%), other gastro-intestinal alterations 15 (12%), liver disorders 5 (12%), hiporexia 6 (14%) and other effects 3 (4%). The treatment was definitively withdrawn in 4 patients (16%) who switched to pirfenidone and other 3 with pirfenidone switched to Nintedanib. Pulmonary function test follow-up are available in 16 patients who showed stability. Conclusion: Preliminary data of Nintedanib treatment in real life show a good safety profile and data consistent with those published in clinical trials.

Published
2018
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16. Functional respiratory impairment and related factors in patients with interstitial pneumonia with autoimmune features (IPAF): Multicenter study from NEREA registry

Author

Maria Asuncion Nieto, Olga Sanchez-Pernaute, Cristina Vadillo, Maria Jesus Rodriguez-Nieto, Fredeswinda Romero-Bueno, Belen López-Muñiz, Laura Cebrian, Maria Teresa Rio-Ramirez, Rosalia Laporta, Gema Bonilla, Tatiana Cobo, Leticia Leon, Lydia Abasolo, and NEREA Group

Subjects
Interstitial pneumonia with autoimmune features, Observational study, Risk factors, Prognosis, Diseases of the respiratory system, RC705-779
Abstract

Abstract Background The objective of the present study is to describe the characteristics of interstitial pneumonia with autoimmune features (IPAF) patients, to assess the incidence rate of functional respiratory impairment over time and to evaluate the influence of therapeutic alternatives on the prognosis of these patients. Methods A longitudinal observational multicenter study was performed (NEREA registry). It was carried out by a multidisciplinary team in seven Hospitals of Madrid. Patients were included from IPAF diagnosis. Main outcome: poor prognosis as functional respiratory impairment (relative decline in FVC % defined as ≥ 5% every 6 months). Covariates: therapy, sociodemographic, clinical, radiological patterns, laboratory and functional tests. Statistics: Survival techniques were used to estimate IR per 100 patients-semester with their 95% confidence interval [CI]. The influence of covariates in prognosis were analyzed through cox multivariate regression models (hazard ratio (HR) and [CI]). Results 79 IPAF were included, with a mean and a maximum follow-up of 3.17 and 12 years respectively. Along the study, 77.2% received treatment (52 glucocorticoids, 25 mycophenolate, 21 azathioprine, 15 rituximab and 11 antifibrotics). IR was 23.9 [19.9–28.8], and 50% of IPAF developed functional respiratory impairment after 16 months from its diagnosis. Multivariate analysis: usual interstitial pneumonia (UIP) had poorer prognosis compared to non-specific interstitial pneumonia (NSIP) (p = 0.001). In NSIP, positive ANA, increased the risk of poor prognosis. In UIP, glucocorticoids (HR: 0.53 [0.34–0.83]), age (HR: 1.04 [1.01–1.07]), and Ro-antibodies (HR: 0.36 [0.19–0.65]) influenced the prognosis. Conclusions IPAF have functional impairment during the first years of disease. Factors predicting deterioration differ between radiographic patterns. Our real-life study suggests the potential benefit of particular therapies in IPAF.

Published
2023
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