Search

Your search keyword '"Moreno-Galdó, Antonio"' showing total 249 results
Start Over Author "Moreno-Galdó, Antonio"
249 results on '"Moreno-Galdó, Antonio"'

5. Longitudinal transcriptional immune profiles and persistent wheezing in moderate‐to‐late preterm infants.

Author

Rodriguez‐Fernandez, Rosa, Xu, Zhaohui, Moreno‐Galdó, Antonio, Sardón, Olaia, Rubi, Teresa, Castillo‐Corullón, Silvia, Torres, Antonio, Corcuera, Paula, Callejón Callejón, Alicia, Perez, Guadalupe, Cortell, Isidoro, Rovira‐Amigo, Sandra, Pastor‐Vivero, Maria D., Mondejar‐Lopez, Pedro, Perez‐Frias, Javier, Velasco, Valle, Torres‐Borrego, Javier, Figuerola, Joan, de la Serna Blázquez, Olga, and Garcia‐Hernandez, Gloria

Subjects
PREMATURE infants, CONVENIENCE sampling (Statistics), B cells, IMMUNOSPECIFICITY, GENOMICS
Abstract

Background: Prematurity is associated with an increased risk of persistent wheezing but the underlying mechanisms are not well defined. The aim of this study was to identify blood transcriptional profiles associated with the development of wheezing in a cohort of moderate to late preterm infants and to define immune gene expression changes associated with wheezing. Materials and Methods: A convenience sample of a multicenter birth cohort (SAREPREM) of moderate‐late preterm children followed during the first 3 years of life was analyzed. Children were enrolled in the first 2 weeks of life (Y0) and longitudinally evaluated at 1 (Y1), 2 (Y2), and 3 years (Y3) of age, for the presence of wheezing and to obtain samples for transcriptional profile analysis. Samples were processed on Illumina HT12 chips and genomic expression analyses performed with R programming, modular analysis for biological function, and QuSAGE for quantitative gene expression. Results: Seventy‐six children were included in the study; 33 were classified as non‐wheezing and 43 (56.6%) in the wheezing group. At Y0, children who developed wheezing had decreased expression of interferon genes and increased expression of B cell genes compared with the non‐wheezing group. These changes in IFN and B cell gene expression were especially significant in children with late/persistent wheezing compared with transient wheezers. Conclusions: Changes in IFN and B lymphocyte gene expression identified in early life suggest the existence of specific immunological mechanisms that play an important role in the development of wheezing in late‐preterm infants. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

6. Clinical and Molecular Profiling in GNAO1 Permits Phenotype–Genotype Correlation.

Author

Lasa‐Aranzasti, Amaia, Larasati, Yonika A., da Silva Cardoso, Juliana, Solis, Gonzalo P., Koval, Alexey, Cazurro‐Gutiérrez, Ana, Ortigoza‐Escobar, Juan Dario, Miranda, Maria Concepción, De la Casa‐Fages, Beatriz, Moreno‐Galdó, Antonio, Tizzano, Eduardo F., Gómez‐Andrés, David, Verdura, Edgard, Katanaev, Vladimir L., Pérez‐Dueñas, Belén, Cancho Candela, Ramón, Martinez, Jorge Pantoja, Cáceres‐Marzal, Cristina, Martí Carrera, Itxaso, and Duat‐Rodriguez, Ana

Abstract

Background: Defects in GNAO1, the gene encoding the major neuronal G‐protein Gαo, are related to neurodevelopmental disorders, epilepsy, and movement disorders. Nevertheless, there is a poor understanding of how molecular mechanisms explain the different phenotypes. Objectives: We aimed to analyze the clinical phenotype and the molecular characterization of GNAO1‐related disorders. Methods: Patients were recruited in collaboration with the Spanish GNAO1 Association. For patient phenotyping, direct clinical evaluation, analysis of homemade‐videos, and an online questionnaire completed by families were analyzed. We studied Gαo cellular expression, the interactions of the partner proteins, and binding to guanosine triphosphate (GTP) and G‐protein‐coupled receptors (GPCRs). Results: Eighteen patients with GNAO1 genetic defects had a complex neurodevelopmental disorder, epilepsy, central hypotonia, and movement disorders. Eleven patients showed neurological deterioration, recurrent hyperkinetic crisis with partial recovery, and secondary complications leading to death in three cases. Deep brain stimulation improved hyperkinetic crisis, but had inconsistent benefits in dystonia. The molecular defects caused by pathogenic Gαo were aberrant GTP binding and hydrolysis activities, an inability to interact with cellular binding partners, and reduced coupling to GPCRs. Decreased localization of Gαo in the plasma membrane was correlated with the phenotype of "developmental and epileptic encephalopathy 17." We observed a genotype–phenotype correlation, pathogenic variants in position 203 were related to developmental and epileptic encephalopathy, whereas those in position 209 were related to neurodevelopmental disorder with involuntary movements. Milder phenotypes were associated with other molecular defects such as del.16q12.2q21 and I344del. Conclusion: We highlight the complexity of the motor phenotype, which is characterized by fluctuations throughout the day, and hyperkinetic crisis with a distinct post‐hyperkinetic crisis state. We confirm a molecular‐based genotype–phenotype correlation for specific variants. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

7. Incidence and Prevalence of Children's Diffuse Lung Disease in Spain

Author

Torrent-Vernetta, Alba, Gaboli, Mirella, Castillo-Corullón, Silvia, Mondéjar-López, Pedro, Sanz Santiago, Verónica, Costa-Colomer, Jordi, Osona, Borja, Torres-Borrego, Javier, de la Serna-Blázquez, Olga, Bellón Alonso, Sara, Caro Aguilera, Pilar, Gimeno-Díaz de Atauri, Álvaro, Valenzuela Soria, Alfredo, Ayats, Roser, Martin de Vicente, Carlos, Velasco González, Valle, Moure González, José Domingo, Canino Calderín, Elisa María, Pastor-Vivero, María Dolores, Villar Álvarez, María Ángeles, Rovira-Amigo, Sandra, Iglesias Serrano, Ignacio, Díez Izquierdo, Ana, de Mir Messa, Inés, Gartner, Silvia, Navarro, Alexandra, Baz-Redón, Noelia, Carmona, Rosario, Camats-Tarruella, Núria, Fernández-Cancio, Mónica, Rapp, Christina, Dopazo, Joaquin, Griese, Matthias, and Moreno-Galdó, Antonio

Published
2022
Full Text
View/download PDF

8. Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene

Author

Baz-Redón, Noelia, primary, Sánchez-Bellver, Laura, additional, Fernández-Cancio, Mónica, additional, Rovira-Amigo, Sandra, additional, Burgoyne, Thomas, additional, Ranjit, Rai, additional, Aquino, Virginia, additional, Toro-Barrios, Noemí, additional, Carmona, Rosario, additional, Polverino, Eva, additional, Cols, Maria, additional, Moreno-Galdó, Antonio, additional, Camats-Tarruella, Núria, additional, and Marfany, Gemma, additional

Published
2024
Full Text
View/download PDF

9. Implementation of a gene panel for genetic diagnosis of primary ciliary dyskinesia

Author

Baz-Redón, Noelia, Rovira-Amigo, Sandra, Paramonov, Ida, Castillo-Corullón, Silvia, Cols-Roig, Maria, Antolín, María, García-Arumí, Elena, Torrent-Vernetta, Alba, de Mir Messa, Inés, Gartner, Silvia, Iglesias-Serrano, Ignacio, Caballero-Rabasco, M. Araceli, Asensio de la Cruz, Óscar, Vizmanos-Lamotte, Gerardo, Martín de Vicente, Carlos, Martínez-Colls, María del Mar, Reula, Ana, Escribano, Amparo, Dasí, Francisco, Armengot-Carceller, Miguel, Polverino, Eva, Amengual Pieras, Esther, Amaro-Rodríguez, Rosanel, Garrido-Pontnou, Marta, Tizzano, Eduardo, Camats-Tarruella, Núria, Fernández-Cancio, Mónica, and Moreno-Galdó, Antonio

Published
2021
Full Text
View/download PDF

10. Implementación de un panel de genes para el diagnóstico genético de la discinesia ciliar primaria

Author

Baz-Redón, Noelia, Rovira-Amigo, Sandra, Paramonov, Ida, Castillo-Corullón, Silvia, Cols Roig, Maria, Antolín, María, García Arumí, Elena, Torrent-Vernetta, Alba, de Mir Messa, Inés, Gartner, Silvia, Iglesias Serrano, Ignacio, Caballero-Rabasco, M. Araceli, Asensio de la Cruz, Óscar, Vizmanos-Lamotte, Gerardo, Martín de Vicente, Carlos, Martínez-Colls, María del Mar, Reula, Ana, Escribano, Amparo, Dasí, Francisco, Armengot-Carceller, Miguel, Polverino, Eva, Amengual Pieras, Esther, Amaro-Rodríguez, Rosanel, Garrido-Pontnou, Marta, Tizzano, Eduardo, Camats-Tarruella, Núria, Fernández-Cancio, Mónica, and Moreno-Galdó, Antonio

Published
2021
Full Text
View/download PDF

16. Methodological approach of the use of electronic nose in paediatrics: A factibility study

Author

Díez Izquierdo, Ana, primary, Garriga-Baraut, Teresa, additional, De Mir-Messa, Ines, additional, Torrent-Vernetta, Alba, additional, Rovira-Amigó, Sandra, additional, Gómez-Duque, Manuel, additional, Iglesias-Serrano, Ignacio, additional, Gartner-Tizzano, Silvia, additional, Martínez-Sánchez, Jose M, additional, Pérez, Hipólito, additional, and Moreno-Galdó, Antonio, additional

Published
2023
Full Text
View/download PDF

24. Incidence and Prevalence of Children's Diffuse Lung Disease in Spain

Author

Sociedad Española de Neumología Pediátrica, European Commission, Sociedad Española de Neumología y Cirugía Torácica, Instituto de Salud Carlos III, Torrent-Vernetta, Alba [0000-0002-3575-2427], Gaboli, Mirella [0000-0002-1600-0916], Castillo-Corullón, Silvia [0000-0002-0121-2676], Mondéjar-López, Pedro [0000-0003-0145-0583], Sanz Santiago, Verónica [0000-0003-3368-8393], Costa-Colomer, Jordi [0000-0001-5530-2661], Osona, Borja [0000-0001-6337-0269], Bellón Alonso, Sara [0000-0001-9917-6919], Caro Aguilera, Pilar [0000-0003-2807-1153], Gimeno-Díaz de Atauri, Álvaro [0000-0003-4775-892X], Ayats, Roser [0000-0002-5245-9847], Canino Calderín, Elisa María0000-0002-6452-7843, Pastor, María Dolores [0000-0001-8917-4709], Rovira-Amigo, Sandra [0000-0001-9896-0621], Iglesias Serrano, Ignacio [0000-0002-2171-7508], Díez Izquierdo, Ana [0000-0002-0471-2991], Mir Messa, Inés de [0000-0002-1418-4563], Gartner, Silvia [0000-0002-8190-5092], Baz-Redón, Noelia [0000-0003-1704-3413], Carmona, Rosario [0000-0002-4235-2886], Camats-Tarruella, Núria [0000-0002-4863-8201], Fernández-Cancio, Mónica [0000-0003-1872-3488], Rapp, Christina [0000-0002-7371-8158], Dopazo, Joaquín [0000-0003-3318-120X], Griese, Matthias [0000-0003-0113-912X], Moreno-Galdó, Antonio [0000-0002-2496-9786], Torrent-Vernetta, Alba, Gaboli, Mirella, Castillo-Corullón, Silvia, Mondéjar-López, Pedro, Sanz Santiago, Verónica, Costa-Colomer, Jordi, Osona, Borja, Torres-Borrego, Javier, Serna-Blázquez, Olga de la, Bellón Alonso, Sara, Caro Aguilera, Pilar, Gimeno-Díaz de Atauri, Álvaro, Valenzuela Soria, Alfredo, Ayats, Roser, Martín de Vicente, Carlos, Velasco González, Valle, Moure González, José Domingo, Canino Calderín, Elisa María, Pastor, María Dolores, Villar Álvarez, María Ángeles, Rovira-Amigo, Sandra, Iglesias Serrano, Ignacio, Díez Izquierdo, Ana, Mir Messa, Inés de, Gartner, Silvia, Navarro, Alexandra, Baz-Redón, Noelia, Carmona, Rosario, Camats-Tarruella, Núria, Fernández-Cancio, Mónica, Rapp, Christina, Dopazo, Joaquín, Griese, Matthias, Moreno-Galdó, Antonio, Sociedad Española de Neumología Pediátrica, European Commission, Sociedad Española de Neumología y Cirugía Torácica, Instituto de Salud Carlos III, Torrent-Vernetta, Alba [0000-0002-3575-2427], Gaboli, Mirella [0000-0002-1600-0916], Castillo-Corullón, Silvia [0000-0002-0121-2676], Mondéjar-López, Pedro [0000-0003-0145-0583], Sanz Santiago, Verónica [0000-0003-3368-8393], Costa-Colomer, Jordi [0000-0001-5530-2661], Osona, Borja [0000-0001-6337-0269], Bellón Alonso, Sara [0000-0001-9917-6919], Caro Aguilera, Pilar [0000-0003-2807-1153], Gimeno-Díaz de Atauri, Álvaro [0000-0003-4775-892X], Ayats, Roser [0000-0002-5245-9847], Canino Calderín, Elisa María0000-0002-6452-7843, Pastor, María Dolores [0000-0001-8917-4709], Rovira-Amigo, Sandra [0000-0001-9896-0621], Iglesias Serrano, Ignacio [0000-0002-2171-7508], Díez Izquierdo, Ana [0000-0002-0471-2991], Mir Messa, Inés de [0000-0002-1418-4563], Gartner, Silvia [0000-0002-8190-5092], Baz-Redón, Noelia [0000-0003-1704-3413], Carmona, Rosario [0000-0002-4235-2886], Camats-Tarruella, Núria [0000-0002-4863-8201], Fernández-Cancio, Mónica [0000-0003-1872-3488], Rapp, Christina [0000-0002-7371-8158], Dopazo, Joaquín [0000-0003-3318-120X], Griese, Matthias [0000-0003-0113-912X], Moreno-Galdó, Antonio [0000-0002-2496-9786], Torrent-Vernetta, Alba, Gaboli, Mirella, Castillo-Corullón, Silvia, Mondéjar-López, Pedro, Sanz Santiago, Verónica, Costa-Colomer, Jordi, Osona, Borja, Torres-Borrego, Javier, Serna-Blázquez, Olga de la, Bellón Alonso, Sara, Caro Aguilera, Pilar, Gimeno-Díaz de Atauri, Álvaro, Valenzuela Soria, Alfredo, Ayats, Roser, Martín de Vicente, Carlos, Velasco González, Valle, Moure González, José Domingo, Canino Calderín, Elisa María, Pastor, María Dolores, Villar Álvarez, María Ángeles, Rovira-Amigo, Sandra, Iglesias Serrano, Ignacio, Díez Izquierdo, Ana, Mir Messa, Inés de, Gartner, Silvia, Navarro, Alexandra, Baz-Redón, Noelia, Carmona, Rosario, Camats-Tarruella, Núria, Fernández-Cancio, Mónica, Rapp, Christina, Dopazo, Joaquín, Griese, Matthias, and Moreno-Galdó, Antonio

Abstract

[Background] Children's diffuse lung disease, also known as children's Interstitial Lung Diseases (chILD), are a heterogeneous group of rare diseases with relevant morbidity and mortality, which diagnosis and classification are very complex. Epidemiological data are scarce. The aim of this study was to analyse incidence and prevalence of chILD in Spain., [Methods] Multicentre observational prospective study in patients from 0 to 18 years of age with chILD to analyse its incidence and prevalence in Spain, based on data reported in 2018 and 2019., [Results] A total of 381 cases with chILD were notified from 51 paediatric pulmonology units all over Spain, covering the 91.7% of the paediatric population. The average incidence of chILD was 8.18 (CI 95% 6.28–10.48) new cases/million of children per year. The average prevalence of chILD was 46.53 (CI 95% 41.81–51.62) cases/million of children. The age group with the highest prevalence were children under 1 year of age. Different types of disorders were seen in children 2–18 years of age compared with children 0–2 years of age. Most frequent cases were: primary pulmonary interstitial glycogenosis in neonates (17/65), neuroendocrine cell hyperplasia of infancy in infants from 1 to 12 months (44/144), idiopathic pulmonary haemosiderosis in children from 1 to 5 years old (13/74), hypersensitivity pneumonitis in children from 5 to 10 years old (9/51), and scleroderma in older than 10 years old (8/47)., [Conclusions] We found a higher incidence and prevalence of chILD than previously described probably due to greater understanding and increased clinician awareness of these rare diseases., [Antecedentes] Las neumopatías intersticiales pediátricas, también conocidas con el acrónimo chILD (del inglés children's Interstitial Lung Diseases), es un grupo heterogéneo de enfermedades raras con morbimortalidad relevante, cuyo diagnóstico y clasificación son complejos. Los estudios epidemiológicos son escasos. El objetivo de este trabajo fue analizar la incidencia y la prevalencia de chILD en España., [Métodos] Estudio prospectivo observacional multicéntrico en pacientes de 0 a 18 años afectos de chILD para analizar la incidencia y la prevalencia en España, a partir de datos recogidos en 2018 y 2019., [Resultados] Se recogieron 381 casos de chILD entre 51 unidades de neumología pediátrica de toda España, que cubrían el 91,7% de la población pediátrica. La incidencia promedio fue 8,18 (IC 95%: 6,28-10,48) casos nuevos/millón de niños por año. La prevalencia promedio fue de 46,53 (IC 95%: 41,81-51,62) casos/millón de niños. El grupo de edad con mayor prevalencia fue el de niños menores de un año. Se observaron diferentes entidades en niños de 2 a 18 años en comparación con niños de 0 a 2 años. Los diagnósticos más frecuentes fueron: glucogenosis intersticial pulmonar primaria en neonatos (17/65), hiperplasia de células neuroendocrinas en lactantes de uno a 12 meses (44/144), hemosiderosis pulmonar idiopática en niños de uno a 5 años (13/74), neumonía por hipersensibilidad en niños de 5 a 10 años (9/51) y esclerodermia en mayores de 10 años (8/47)., [Conclusiones] Encontramos una mayor incidencia y prevalencia de chILD que las descritas previamente, probablemente debido a un mayor conocimiento y detección de estas enfermedades raras.

Published
2022

28. ABCA3-related interstitial lung disease beyond infancy

Author

Li, Yang, primary, Seidl, Elias, additional, Knoflach, Katrin, additional, Gothe, Florian, additional, Forstner, Maria Elisabeth, additional, Michel, Katarzyna, additional, Pawlita, Ingo, additional, Gesenhues, Florian, additional, Sattler, Franziska, additional, Yang, Xiaohua, additional, Kroener, Carolin, additional, Reu-Hofer, Simone, additional, Ley-Zaporozhan, Julia, additional, Kammer, Birgit, additional, Krüger-Stollfuß, Ingrid, additional, Dinkel, Julien, additional, Carlens, Julia, additional, Wetzke, Martin, additional, Moreno-Galdó, Antonio, additional, Torrent-Vernetta, Alba, additional, Lange, Joanna, additional, Krenke, Katarzyna, additional, Rumman, Nisreen, additional, Mayell, Sarah, additional, Sismanlar, Tugba, additional, Aslan, Ayse, additional, Regamey, Nicolas, additional, Proesmans, Marijke, additional, Stehling, Florian, additional, Naehrlich, Lutz, additional, Ayse, Kilinc, additional, Becker, Sebastian, additional, Koerner-Rettberg, Cordula, additional, Plattner, Erika, additional, Manali, Effrosyni D, additional, Papiris, Spyridon A, additional, Campo, Ilaria, additional, Kappler, Matthias, additional, Schwerk, Nicolaus, additional, and Griese, Matthias, additional

Published
2023
Full Text
View/download PDF

29. A crowdsourcing database for the copy-number variation of the spanish population

Author

López-López, Daniel, Roldán, Gema, Fernández-Rueda, Jose L., Bostelmann, Gerrit, Carmona, Rosario, Aquino, Virginia, Perez-Florido, Javier, Ortuño, Francisco, Pita, Guillermo, Núñez-Torres, Rocío, González-Neira, Anna, Alonso, Angel, Salgado-Garrido, Josefa, Pasalodos-Sanchez, Sara, Ayuso, Carmen, Minguez, Pablo, Avila-Fernandez, Almudena, Corton, Marta, Artuch, Rafael, Borrego, Salud, Antiñolo, Guillermo, Carracedo, Angel, Amigo, Jorge, Castaño, Luis Antonio, Tejada, Isabel, Delmiro, Aitor, Espinos, Carmina, Grinberg, Daniel, Guillén, Encarnación, Lapunzina, Pablo, Lopez-Escámez, Jose Antonio, Gallego-Martinez, Alvaro, Martí, Ramón, Rovira, Eulalia, Millán, José Mª, Moreno, Miguel Angel, Morin, Matías, Moreno-Galdó, Antonio, Fernández-Cancio, Mónica, Morte, Beatriz, Mulero, Victoriano, García, Diana, Nunes, Virginia, Palau, Francesc, Perez, Belén, Jurado, Luis Pérez, Perona, Rosario, Pujol, Aurora, Ramos, Feliciano, Lopez, Esther, Ribes, Antonia, Rosell, Jordi, Surrallés, Jordi, Peña-Chilet, María, Dopazo, Joaquin, Universidad Pública de Navarra. Departamento de Ciencias de la Salud, and Nafarroako Unibertsitate Publikoa. Osasun Zientziak Saila

Subjects
Copy-number variation, Espanya -- Població, Drug Discovery, Genetics, Molecular Medicine, Proveïment participatiu, Espanya -- Estadístiques, Molecular Biology, Spanish population
Abstract

Background Despite being a very common type of genetic variation, the distribution of copy-number variations (CNVs) in the population is still poorly understood. The knowledge of the genetic variability, especially at the level of the local population, is a critical factor for distinguishing pathogenic from non-pathogenic variation in the discovery of new disease variants. Results Here, we present the SPAnish Copy Number Alterations Collaborative Server (SPACNACS), which currently contains copy number variation profiles obtained from more than 400 genomes and exomes of unrelated Spanish individuals. By means of a collaborative crowdsourcing effort whole genome and whole exome sequencing data, produced by local genomic projects and for other purposes, is continuously collected. Once checked both, the Spanish ancestry and the lack of kinship with other individuals in the SPACNACS, the CNVs are inferred for these sequences and they are used to populate the database. A web interface allows querying the database with different filters that include ICD10 upper categories. This allows discarding samples from the disease under study and obtaining pseudo-control CNV profiles from the local population. We also show here additional studies on the local impact of CNVs in some phenotypes and on pharmacogenomic variants. SPACNACS can be accessed at: http://csvs.clinbioinfosspa.es/spacnacs/. Conclusion SPACNACS facilitates disease gene discovery by providing detailed information of the local variability of the population and exemplifies how to reuse genomic data produced for other purposes to build a local reference database.

Published
2023

30. 16q12.2q21 deletion: A newly recognized cause of dystonia related to GNAO1 haploinsufficiency

Author

Lasa-Aranzasti, Amaia, primary, Cazurro-Gutiérrez, Ana, additional, Bescós, Agustín, additional, González, Victoria, additional, Ispierto, Lourdes, additional, Tardáguila, Manel, additional, Valenzuela, Irene, additional, Plaja, Alberto, additional, Moreno-Galdó, Antonio, additional, Macaya-Ruiz, Alfons, additional, and Pérez-Dueñas, Belen, additional

Published
2022
Full Text
View/download PDF

31. Clinical Implications of the Genetic Background in Pediatric Pulmonary Arterial Hypertension: Data from the Spanish REHIPED Registry

Author

Cruz-Utrilla, Alejandro, primary, Gallego-Zazo, Natalia, additional, Tenorio-Castaño, Jair Antonio, additional, Guillén, Inmaculada, additional, Torrent-Vernetta, Alba, additional, Moya-Bonora, Amparo, additional, Labrandero, Carlos, additional, Rodríguez-Monte, María Elvira Garrido-Lestache, additional, Rodríguez-Ogando, Alejandro, additional, Rey, María del Mar Rodríguez Vázquez Del, additional, Espín, Juana, additional, Plata-Izquierdo, Beatriz, additional, Álvarez-Fuente, María, additional, Moreno-Galdó, Antonio, additional, Escribano-Subias, Pilar, additional, and Marín, María Jesús Del Cerro, additional

Published
2022
Full Text
View/download PDF

32. ABCA3-related interstitial lung disease beyond infancy.

Author

Yang Li, Seidl, Elias, Knoflach, Katrin, Gothe, Florian, Forstner, Maria Elisabeth, Michel, Katarzyna, Pawlita, Ingo, Gesenhues, Florian, Sattler, Franziska, Xiaohua Yang, Kroener, Carolin, Reu-Hofer, Simone, Ley-Zaporozhan, Julia, Kammer, Birgit, Krüger-Stollfuß, Ingrid, Dinkel, Julien, Carlens, Julia, Wetzke, Martin, Moreno-Galdó, Antonio, and Torrent-Vernetta, Alba

Subjects
INTERSTITIAL lung diseases, INFANTS, IDIOPATHIC pulmonary fibrosis, FORCED expiratory volume
Published
2023
Full Text
View/download PDF

35. Desarrollo de la función pulmonar en lactantes pretérmino sano durante los primeros seis años de vida

Author

Moreno Galdó, Antonio, Sardon Prado, Olaia, Pediatría, Pediatria, Camats Marsol, Laura, Moreno Galdó, Antonio, Sardon Prado, Olaia, Pediatría, Pediatria, and Camats Marsol, Laura

Abstract

131 p., Este proyecto forma parte de un estudio epidemiológico, multicéntrico, prospectivo y de ámbito nacional, diseñadopara el estudio de la función pulmonar en niños nacidos pretérminos entre 30 y 35+6 semanas de gestación y sincomorbilidades, comparado con un grupo de recién nacidos a término sanos. El estudio ha sido coordinadoconjuntamente por las secciones de Neumología Infantil de los Hospitales Universitarios Donostia, en San Sebastián,y Vall d'Hebron, en Barcelona. Hemos realizado este estudio en una cohorte de niños en edad preescolar porque apesar de haberse publicado gran número de artículos acerca de la función pulmonar durante la época de lactante,existen pocos proyectos que hayan estudiado la función pulmonar en etapas posteriores. En la primera fase de esta investigación se estudió la función pulmonar y morbilidad respiratoria de lactantes nacidos pretérmino (entre 30 y 35+6 semanas de gestación) sanos, durante los primeros 18 meses de vida. Se objetivó que existían diferencias en lafunción pulmonar, concretamente en Crs (complianza del sistema respiratorio) y en VmaxFRC (flujo espiratoriomáximo de la capacidad funcional residual), entre los recién nacidos a término y dichos prematuros a los 6 meses deedad corregida, no manteniéndose estas diferencias a los 18 meses de edad. En la segunda fase de la investigación, seha continuado estudiando a los mismos sujetos durante la etapa preescolar, es decir hasta los 6 años de vida ±12meses, para poder valorar la influencia de la prematuridad en el desarrollo de la función pulmonar (valorada mediante espirometría forzada, medición de resistencia específica de la vía aérea mediante pletismografía y pruebabroncodilatadora). Como objetivos secundarios, también hemos querido determinar la incidencia de la patología de lavía aérea (bronquiolitis, sibilancias recurrentes y/o asma) y analizar el desarrollo de la función pulmonar en la edadpreescolar mediante la comparación de la función pulmonar en lactantes nacidos pretér

Published
2022

36. Epigenetic regulation of inflammation by microRNAs in post-infectious bronchiolitis obliterans

Author

Duecker, Ruth Pia, de Mir Messa, Inés, Jerkic, Silvija-Pera, Kochems, Annalena, Gottwald, Gabriele, Moreno Galdó, Antonio, Institut Català de la Salut, [Duecker RP, Jerkic SP, Kochems A, Gottwald G] Division for Allergy, Pneumology and Cystic Fibrosis, Department for Children and Adolescence, Goethe University, Frankfurt, Germany. [De Mir Messa I] Unitat de Pneumologia Pediàtrica i Fibrosi Quística, Servei de Pediatria, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [Moreno-Galdó A] Unitat de Pneumologia Pediàtrica i Fibrosi Quística, Servei de Pediatria, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. CIBER of Rare Diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain, and Vall d'Hebron Barcelona Hospital Campus

Subjects
MicroARN, Respiratory Tract Diseases::Bronchial Diseases::Bronchitis::Bronchiolitis::Bronchiolitis Obliterans [DISEASES], Bronquiolitis, enfermedades respiratorias::enfermedades bronquiales::bronquitis::bronquiolitis::bronquiolitis obliterante [ENFERMEDADES], Epigenètica
Abstract

Inflammation; MicroRNA; Post‐infectious bronchiolitis obliterans Inflamación; MicroARN; Bronquiolitis obliterante posinfecciosa Inflamació; MicroARN; Bronquiolitis obliterant postinfecciosa Objectives Post-infectious bronchiolitis obliterans (PiBO) is a rare, chronic disease initiated by severe infection and followed by perpetuating inflammation and obliteration of the small airways. MicroRNAs (miRNAs) have been proposed to play a central role as epigenetic regulators, which control resolution and prevent the uncontrolled progress of inflammation. The aim of this study was to define biomarkers on the level of post-transcriptional gene regulation in order to characterise PiBO. Methods A total of 39 patients with well-defined PiBO and 31 controls from two centres, Barcelona, Spain, and Frankfurt, Germany, were analysed by next-generation sequencing (NGS). The evaluation of the biological targets of the miRNAs was performed by pathway enrichment analysis and protein–protein interaction network analysis respectively. Results Patients with PiBO had significantly lower lung function values and increased airway inflammation in induced sputum as indicated by total cell counts, neutrophils, IL-1β, IL-6, IL-8 and TGF-β compared to controls. Next-generation sequencing analysis revealed a total of 22 dysregulated miRNAs, which passed significance threshold for Padj ≤ 0.001 with 17 being upregulated and 5 being downregulated. Of these dysregulated miRNAs, miR-335-5p, miR-186-5p, miR-30b-5p and miR-30c-5p were further validated using qRT-PCR. Interestingly, these miRNAs are functionally implicated in cytokine–cytokine receptor interaction, TGF-β signalling and FoxO signalling pathway and significantly correlated with lung function values (FEV1). Conclusion Our results demonstrate an aberrant miRNA expression profile in PiBO, which impacts pathways responsible for the regulation of inflammation and fibrosis. The defined miRNAs are useful biomarkers and should be assessed as potential target in the field of miRNA therapeutics. Starke Lunge Foundation. Grant Number: I 1325d 04/11(6)-78

Published
2022

37. Epigenetic regulation of inflammation by microRNAs in post-infectious bronchiolitis obliterans

Author

Duecker, Ruth P.., de Mir-Messa, Inés, Jerkic, Silvija-Pera, Kochems, Annalena, Gottwald, Gabriele, Moreno Galdó, Antonio, Rosewich, Martin, Gronau, Lucia, Zielen, Stefan, Geburtig-Chiocchetti, Andreas, Kreyenberg, Hermann, Schubert, Ralf, and Universitat Autònoma de Barcelona

Subjects
Inflammation, Post-infectious bronchiolitis obliterans, Fibrosis, Microrna
Abstract

Post-infectious bronchiolitis obliterans (PiBO) is a rare, chronic disease initiated by severe infection and followed by perpetuating inflammation and obliteration of the small airways. MicroRNAs (miRNAs) have been proposed to play a central role as epigenetic regulators, which control resolution and prevent the uncontrolled progress of inflammation. The aim of this study was to define biomarkers on the level of post-transcriptional gene regulation in order to characterise PiBO. A total of 39 patients with well-defined PiBO and 31 controls from two centres, Barcelona, Spain, and Frankfurt, Germany, were analysed by next-generation sequencing (NGS). The evaluation of the biological targets of the miRNAs was performed by pathway enrichment analysis and protein-protein interaction network analysis respectively. Patients with PiBO had significantly lower lung function values and increased airway inflammation in induced sputum as indicated by total cell counts, neutrophils, IL-1β, IL-6, IL-8 and TGF-β compared to controls. Next-generation sequencing analysis revealed a total of 22 dysregulated miRNAs, which passed significance threshold for P adj ≤ 0.001 with 17 being upregulated and 5 being downregulated. Of these dysregulated miRNAs, miR-335-5p, miR-186-5p, miR-30b-5p and miR-30c-5p were further validated using qRT-PCR. Interestingly, these miRNAs are functionally implicated in cytokine-cytokine receptor interaction, TGF-β signalling and FoxO signalling pathway and significantly correlated with lung function values (FEV1). Our results demonstrate an aberrant miRNA expression profile in PiBO, which impacts pathways responsible for the regulation of inflammation and fibrosis. The defined miRNAs are useful biomarkers and should be assessed as potential target in the field of miRNA therapeutics. We identified dysregulated miRNAs, which impact pathways for inflammatory cytokines and TGF-β signalling in post-infectious bronchiolitis obliterans. The miRNAs reflect bronchial inflammation and fibrosis and could be considered as novel biomarkers supporting diagnosis and treatment options.

Published
2022

38. Pediatric Bronchoscopy Guidelines

Author

Pérez-Frías, Javier, Moreno Galdó, Antonio, Pérez Ruiz, Estela, Barrio Gómez De Agüero, María Isabel, Escribano Montaner, Amparo, and Caro Aguilera, Pilar

Published
2011
Full Text
View/download PDF

40. Epigenetic regulation of inflammation by microRNAs in post‐infectious bronchiolitis obliterans

Author

Duecker, Ruth P, primary, De Mir Messa, Ines, additional, Jerkic, Silvija‐Pera, additional, Kochems, Annalena, additional, Gottwald, Gabriele, additional, Moreno‐Galdó, Antonio, additional, Rosewich, Martin, additional, Gronau, Lucia, additional, Zielen, Stefan, additional, Geburtig‐Chiocchetti, Andreas, additional, Kreyenberg, Hermann, additional, and Schubert, Ralf, additional

Published
2022
Full Text
View/download PDF

41. Risk factors for bronchiolitis, recurrent wheezing, and related hospitalization in preterm infants during the first year of life

Author

Pérez-Yarza, Eduardo G., Moreno-Galdó, Antonio, Ramilo, Octavio, Rubí, Teresa, Escribano, Amparo, Torres, Antonio, Sardón, Olaia, Oliva, Concepción, Pérez, Guadalupe, Cortell, Isidoro, Rovira-Amigo, Sandra, Pastor-Vivero, Maria D., Pérez-Frías, Javier, Velasco, Valle, Torres-Borrego, Javier, Figuerola, Joan, Barrio, Maria Isabel, García-Hernández, Gloria, Mejías, Asunción, Aldasoro, A., Corcuera, P., Korta, J., Bosch, J., Morera, G., Mumany, M., Batlles-Garrido, J., González-Giménez, Y., Romero, T., Morata, J., Navarro-Merino, M., Sanchez-Solis, M., Lopez, Mondejar P., and Gómez-Acebo, Francisca

Published
2015
Full Text
View/download PDF

44. International BEAT-PCD Consensus Statement for infection prevention and control in Primary Ciliary Dyskinesia in collaboration with ERN-LUNG PCD Core Network and patient representatives

Author

Marthin, June Kehlet, primary, Lucas, Jane, additional, Boon, Mieke, additional, Crowley, Suzanne, additional, Casualta, Carmen, additional, Destouches, Damien Ms, additional, Eber, Ernst, additional, Escribano, Amparo, additional, Haarman, Eric, additional, Hogg, Claire, additional, Maitre, Bernard, additional, Marsh, Gemma, additional, Martinu, Vendula, additional, Moreno-Galdó, Antonio, additional, Mussaffi, Huda, additional, Omran, Heymut, additional, Pohunek, Petr, additional, Rindlisbacher, Bernhard, additional, Robinson, Phil, additional, Snijders, Deborah, additional, Yiallouros, Panayiotis, additional, Walker, Wolf, additional, Johansen, Helle Krogh, additional, and Nielsen, Kim G, additional

Published
2021
Full Text
View/download PDF

47. International BEAT-PCD Consensus Statement for Infection Prevention and Control for Primary Ciliary Dyskinesia in collaboration with ERN-LUNG PCD Core NETWORK and patient representatives

Author

Marthin, June K., primary, Lucas, Jane S., additional, Boon, Mieke, additional, Casaulta, Carmen, additional, Crowley, Suzanne, additional, Destouches, Damien M.S., additional, Eber, Ernst, additional, Escribano, Amparo, additional, Haarman, Eric, additional, Hogg, Claire, additional, Maitre, Bernard, additional, Marsh, Gemma, additional, Martinu, Vendula, additional, Moreno-Galdó, Antonio, additional, Mussaffi, Huda, additional, Omran, Heymut, additional, Pohunek, Petr, additional, Rindlisbacher, Bernhard, additional, Robinson, Phil, additional, Snijders, Deborah, additional, Walker, Woolf T., additional, Yiallouros, Panayiotis, additional, Johansen, Helle Krogh, additional, and Nielsen, Kim G., additional

Published
2021
Full Text
View/download PDF

48. Evaluación del crecimiento desde etapa prepuberal hasta talla adulta de pacientes con retardo crónico e idiopático del crecimiento tratados con hormona de crecimiento : efectos de la discontinuación del tratamiento

Author

Yeste Fernández, Diego, Fernández Cancio, Mónica, Carrascosa, Antonio, Moreno Galdó, Antonio, Mogas Viñals, Eduard, Yeste Fernández, Diego, Fernández Cancio, Mónica, Carrascosa, Antonio, Moreno Galdó, Antonio, and Mogas Viñals, Eduard

Abstract

Pendents, Universitat Autònoma de Barcelona. Programa de Doctorat en Pediatria, Obstetrícia i Ginecologia

Published
2021

49. International BEAT-PCD consensus statement for infection prevention and control for primary ciliary dyskinesia in collaboration with ERN-LUNG PCD Core Network and patient representatives

Author

Marthin, June K, Lucas, Jane S, Boon, Mieke, Casaulta, Carmen, Crowley, Suzanne, Destouches, Damien M S, Eber, Ernst, Escribano, Amparo, Haarman, Eric, Hogg, Claire, Maitre, Bernard, Marsh, Gemma, Martinu, Vendula, Moreno-Galdó, Antonio, Mussaffi, Huda, Omran, Heymut, Pohunek, Petr, Rindlisbacher, Bernhard, Robinson, Phil, Snijders, Deborah, Walker, Woolf T, Yiallouros, Panayiotis, Johansen, Helle Krogh, Nielsen, Kim G., Marthin, June K, Lucas, Jane S, Boon, Mieke, Casaulta, Carmen, Crowley, Suzanne, Destouches, Damien M S, Eber, Ernst, Escribano, Amparo, Haarman, Eric, Hogg, Claire, Maitre, Bernard, Marsh, Gemma, Martinu, Vendula, Moreno-Galdó, Antonio, Mussaffi, Huda, Omran, Heymut, Pohunek, Petr, Rindlisbacher, Bernhard, Robinson, Phil, Snijders, Deborah, Walker, Woolf T, Yiallouros, Panayiotis, Johansen, Helle Krogh, and Nielsen, Kim G.

Abstract

Introduction In primary ciliary dyskinesia (PCD) impaired mucociliary clearance leads to recurrent airway infections and progressive lung destruction, and concern over chronic airway infection and patient-to-patient transmission is considerable. So far, there has been no defined consensus on how to control infection across centres caring for patients with PCD. Within the BEAT-PCD network, COST Action and ERS CRC together with the ERN-Lung PCD core a first initiative has now been taken towards creating such a consensus statement.Methods A multidisciplinary international PCD expert panel was set up to create a consensus statement for infection prevention and control (IP&C) for PCD, covering diagnostic microbiology, infection prevention for specific pathogens considered indicated for treatment and segregation aspects. Using a modified Delphi process, consensus to a statement demanded at least 80% agreement within the PCD expert panel group. Patient organisation representatives were involved throughout the process.Results We present a consensus statement on 20 IP&C statements for PCD including suggested actions for microbiological identification, indications for treatment of Pseudomonas aeruginosa, Burkholderia cepacia and nontuberculous mycobacteria and suggested segregation aspects aimed to minimise patient-to-patient transmission of infections whether in-hospital, in PCD clinics or wards, or out of hospital at meetings between people with PCD. The statement also includes segregation aspects adapted to the current coronavirus disease 2019 (COVID-19) pandemic.Conclusion The first ever international consensus statement on IP&C intended specifically for PCD is presented and is targeted at clinicians managing paediatric and adult patients with PCD, microbiologists, patient organisations and not least the patients and their families.

Published
2021

Catalog

Books, media, physical & digital resources
See catalog results