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Growth and Development

Our group is dedicated to paediatric research. We are interested in rare respiratory and endocrinological diseases, and also in common paediatric problems such as normal growth, asthma, neonatal pathology and imaging diagnosis, as well as minority diseases. Our goal is to transfer the findings of clinical and genetic studies to the widespread clinical practice and the general population, with the long-term objective of obtaining better diagnoses, implementing better therapeutic practices and improving the health of children.

Our group is part of CIBERER (Biomedical Research Networking Centre on Rare Diseases) (CIBERER U712) and European Reference Networks (ERN) for rare diseases ERN LUNG and Endo-ERN.

Publications

Biofeedback and Digitalized Motivational Interviewing to Increase Daily Physical Activity: Series of Factorial N-of-1 Randomized Controlled Trials Piloting the Precious App.

PMID: 37995122
Journal: JMIR formative research
Year: 2023
Reference: JMIR Form Res. 2023 Nov 23;7:e34232. doi: 10.2196/34232.
Impact factor:
Publication type: Paper in international publication
Authors: Castellano-Tejedor, Carmina; Gartner, Silvia; Ginchev, Todor; Haukkala, Ari; Iglesias Serrano, Ignacio; Izquierdo, Ana Diez; Khattak, Fida; Knittle, Keegan; Lusilla-Palacios, Pilar; Messa, Ines Mir et al.
DOI: 10.2196/34232

Addressing the unmet needs in patients with type 2 inflammatory diseases: when quality of life can make a difference.

PMID: 38026127
Journal:
Year: 2023
Reference: Front Allergy. 2023 Nov 9;4:1296894. doi: 10.3389/falgy.2023.1296894. eCollection 2023.
Impact factor:
Publication type: Paper in international publication
Authors: Aceituno-Lopez, Maria Angeles; Aceituno-Lopez, Maria Angeles; Alobid, Isam; Camprodon-Gomez, Maria; Del-Toro-Riera, Mireia; Espinosa, Miriam; Gomez de la Fuente, Enrique; Lara-Fernandez, Roser; Lara-Fernandez, Roser; Luca de Tena, Africa et al.
DOI: 10.3389/falgy.2023.1296894

Reply to "MOG Antibody-Positive Patients Meeting the 2017 McDonald Criteria for MS: Challenges in Diagnosis and Treatment Decisions".

PMID: 38081749
Journal: ANNALS OF NEUROLOGY
Year: 2023
Reference: Ann Neurol. 2023 Dec 11. doi: 10.1002/ana.26856.
Impact factor:
Publication type: Other (letters to the editor, abstracts, corrigendum, etc.)
Authors: Alvarez-Fernandez, Antonio; Canete-Ramirez, Carme; Cobo-Calvo, Alvaro; Espejo, Carmen; Fernandez-Polo, Aurora; Gartner, Silvia; Jimenez-Lozano, Ines; Luna-Paredes, Carmen; Monte-Boquet, Emilio; Roch-Santed, Maria et al.
DOI: 10.1002/ana.26856

Optimized Treatment of Nosocomial Peritonitis.

PMID: 38136745
Journal: Antibiotics-Basel
Year: 2023
Reference: Antibiotics (Basel). 2023 Dec 8;12(12):1711. doi: 10.3390/antibiotics12121711.
Impact factor:
Publication type: Paper in international publication
Authors: Arvanti, Kostoula; Barben, Jurg; Castellani, Carlo; Coccolini, Federico; De Waele, Jan J; de Winter-de Groot, Karin M; Gartner, Silvia; Karadag, Bulent; Kashirskaya, Nataliya; Lagunes, Leonel et al.
DOI: 10.3390/antibiotics12121711

Thyroid function in < 32 weeks gestation preterm infants.

PMID: 35131224
Journal: ANALES DE PEDIATRIA
Year: 2022
Reference: An Pediatr. 2022 Feb;96(2):130-137. doi: 10.1016/j.anpede.2020.10.017. Epub 2022 Feb 4.
Impact factor:
Publication type: Paper in international publication
Authors: Ballesta-Anguiano, Marta; Campos-Martorell, Ariadna; Castillo-Salinas, Felix; Clemente-Leon, Maria; Hernandez-Perez, Susana; Montaner-Ramon, Alicia et al.
DOI: 10.1016/j.anpedi.2020.10.023

Antimicrobial defined daily dose in neonatal population.

PMID: 35120651
Journal: ENFERMEDADES INFECCIOSAS Y MICROBIOLOGIA CLINICA
Year: 2022
Reference: Enferm Infecc Microbiol Clin. 2022 Feb;40(2):59-65. doi: 10.1016/j.eimce.2021.05.012.
Impact factor:
Publication type: Paper in national publication
Authors: Alvarez Del Vayo-Benito, Concepcion; Catillo-Salinas, Felix; Comunas, Juanjo; Dolz, Elisenda; Fernandez-Llamazares, Cecilia M; Fernandez-Polo, Aurora; Gallego-Fernandez, Carmen; Gazquez-Perez, Rocio; Gil-Navarro, Maria-Victoria; Gomez-Trevecedo Calvo, Maria-Teresa et al.
DOI: 10.1016/j.eimc.2021.05.007

Prevalence of genetic variants in pediatric pulmonary arterial hypertension associated with corrected D-transposition of the great arteries. The REHIPED registry.

PMID: 35058221
Journal: REVISTA ESPANOLA DE CARDIOLOGIA
Year: 2022
Reference: Rev Esp Cardiol (Engl Ed). 2022 May;75(5):448-450. doi: 10.1016/j.rec.2021.12.006. Epub 2022 Jan 17.
Impact factor:
Publication type: Letter whit IF
Authors: Cruz-Utrilla, Alejandro; Del Cerro Marin, Maria Jesus; Escribano Subias, Maria Pilar; Gallego, Natalia; Guillen, Inmaculada; Torrent-Vernetta, Alba et al.
DOI: 10.1016/j.rec.2021.12.006

Geographic distribution and phenotype of European people with cystic fibrosis carrying A1006E mutation.

PMID: 35032736
Journal: RESPIRATORY MEDICINE
Year: 2022
Reference: Respir Med. 2022 Feb;192:106736. doi: 10.1016/j.rmed.2022.106736. Epub 2022 Jan 6.
Impact factor:
Publication type: Paper in international publication
Authors: Alvarez-Fernandez, Antonio; Asensio de la Cruz, Oscar; Calderazzo, Maria Adelaide; Carnovale, Vincenzo; Castillo-Corullon, Silvia; Cimino, Giuseppe; de Asis Sanchez-Martinez, Francisco; Garcia-Marcos, Patricia W; Gartner, Silvia; Glover, Guillermo et al.
DOI: 10.1016/j.rmed.2022.106736

Phenotypic variability of patients with PAX8 variants presenting congenital hypothyroidism and eutopic thyroid.

PMID: 33029631
Journal: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Year: 2021
Reference: J Clin Endocrinol Metab. 2021 Jan 1;106(1):e152-e170. doi: 10.1210/clinem/dgaa711.
Impact factor:
Publication type: Paper in international publication
Authors: Antolin, Maria; Baz-Redon, Noelia; Blasco-Perez, Laura; Camats, Nuria; Campos-Martorell, Ariadna; Clemente, Maria; Fernandez-Cancio, Monica; Garcia-Arumi, Elena; Jaimes, Nadya; Mogas, Eduard et al.
DOI: 10.1210/clinem/dgaa711

Response to Letter to the Editor: "A Genome-Wide Pharmacogenetic Study of Growth Hormone Responsiveness".

PMID: 33174594
Journal: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Year: 2021
Reference: J Clin Endocrinol Metab. 2021 Jan 1;106(1):e409-e410. doi: 10.1210/clinem/dgaa735.
Impact factor:
Publication type: Letter or abstract
Authors: Audi, Laura; Camacho-Hubner, Cecilia; Dauber, Andrew; Hirschhorn, Joel N; Jorge, Alexander A L; Lindberg, Anders; Ranke, Michael B; Vedantam, Sailaja; Wajnrajch, Michael P et al.
DOI: 10.1210/clinem/dgaa735

Pulmonary Manifestations of Hematologic and Oncologic Diseases in Children.

PMID: 33228943
Journal: PEDIATRIC CLINICS OF NORTH AMERICA
Year: 2021
Reference: Pediatr Clin North Am. 2021 Feb;68(1):61-80. doi: 10.1016/j.pcl.2020.09.003.
Impact factor:
Publication type: Review in international publication
Authors: Elbahlawan, Lama; Galdo, Antonio Moreno; Ribeiro, Raul C et al.
DOI: 10.1016/j.pcl.2020.09.003

Accuracy of prenatal ultrasound in the diagnosis of corpus callosum anomalies.

PMID: 31035852
Journal: Journal of Maternal-Fetal & Neonatal Medicine
Year: 2021
Reference: J Matern Fetal Neonatal Med. 2021 Feb;34(3):439-444. doi: 10.1080/14767058.2019.1609931. Epub 2019 Apr 29.
Impact factor:
Publication type: Paper in international publication
Authors: Arevalo, Silvia; Carreras, Elena; Garrido, Marta; Higueras, Teresa; Illescas, Tamara; Maiz, Nerea; Rodo, Carlota; Santirocco, Maddalena; Vazquez, Elida et al.
DOI: 10.1080/14767058.2019.1609931

Pediatric minor head injury imaging practices: results from an ESPR survey.

PMID: 31828360
Journal: NEURORADIOLOGY
Year: 2020
Reference: Neuroradiology. 2020 Feb;62(2):251-255. doi: 10.1007/s00234-019-02326-6. Epub 2019 Dec 11.
Impact factor:
Publication type: Paper in international publication
Authors: Adamsbaum, Catherine; Alexiou, George A; Argyropoulou, Maria I; Astrakas, Loukas G; Chateil, Jean-Francois; Girard, Nadine; Rossi, Andrea; Vazquez, Elida; Xydis, Vassileios G et al.
DOI: 10.1007/s00234-019-02326-6

Unusual context of CENPJ variants and primary microcephaly: compound heterozygosity and nonconsanguinity in an Argentinian patient.

PMID: 33420009
Journal: Human genome variation
Year: 2020
Reference: Hum Genome Var. 2020 Jun 8;7(1):20. doi: 10.1038/s41439-020-0105-3.
Impact factor: 0
Publication type: Paper in international publication
Authors: Cueto-Gonzalez, Anna M, Fernandez-Cancio, Monica, Fernandez-Alvarez, Paula, Garcia-Arumi, Elena, Tizzano, Eduardo F et al.
DOI: 10.1038/s41439-020-0105-3

Immunofluorescence Analysis as a Diagnostic Tool in a Spanish Cohort of Patients with Suspected Primary Ciliary Dyskinesia.

PMID: 33182294
Journal: Journal of Clinical Medicine
Year: 2020
Reference: J Clin Med. 2020 Nov 9;9(11). pii: jcm9113603. doi: 10.3390/jcm9113603.
Impact factor: 3.303
Publication type: Paper in international publication
Authors: Baz-Redon, Noelia, Rovira-Amigo, Sandra, Fernandez-Cancio, Monica, Castillo-Corullon, Silvia, Cols, Maria, Caballero-Rabasco, M Araceli, Asensio, Oscar, Martin de Vicente, Carlos, Martinez-Colls, Maria Del Mar, Torrent-Vernetta, Alba et al.
DOI: 10.3390/jcm9113603

Circulating tumour DNA from the cerebrospinal fluid allows the characterisation and monitoring of medulloblastoma.

PMID: 33110059
Journal: Nature Communications
Year: 2020
Reference: Nat Commun. 2020 Oct 27;11(1):5376. doi: 10.1038/s41467-020-19175-0.
Impact factor: 12.121
Publication type: Paper in international publication
Authors: Gros, Luis, Ramon Y Cajal, Santiago, Poca, Maria A, Puente, Xose S, Sahuquillo, Juan, Gallego, Soledad, Seoane, Joan, Hladun, Raquel, Lesende-Rodriguez, Ivan, Vazquez-Mendez, Elida et al.
DOI: 10.1038/s41467-020-19175-0

Adherence and long-term outcomes of growth hormone therapy with easypod in pediatric subjects: Spanish ECOS study.

PMID: 31484160
Journal: Endocrine Connections
Year: 2019
Reference: Endocr Connect. 2019 Sep 1;8(9):1240-1249. doi: 10.1530/EC-19-0325.
Impact factor: 2.474
Publication type: Paper in international publication
Authors: Rodriguez Arnao, Maria Dolores, Rodriguez Sanchez, Amparo, Diez Lopez, Ignacio, Ramirez Fernandez, Joaquin, Bermudez de la Vega, Jose Antonio, Yeste Fernandez, Diego, Chueca Guindulain, Maria, Corripio Collado, Raquel, Perez Sanchez, Jacobo, Fernandez Gonzalez, Ana et al.
DOI: 10.1530/EC-19-0325

Atrial Septostomy in Children With Pulmonary Hypertension.

PMID: 30573215
Journal: REVISTA ESPANOLA DE CARDIOLOGIA
Year: 2019
Reference: Rev Esp Cardiol (Engl Ed). 2019 Aug;72(8):688-691. doi: 10.1016/j.rec.2018.09.014. Epub 2018 Dec 17.
Impact factor: 5.078
Publication type: Paper in national publication
Authors: Albert Brotons, Dimpna Calila, Torrent Vernetta, Alba, Degano Iglesias, Lucas Alberto, Sabate Rotes, Anna, Betrian Blasco, Pedro, Moreno-Galdo, Antonio et al.
DOI: 10.1016/j.rec.2018.09.014

Inconclusive diagnosis after a positive newborn bloodspot screening result for cystic fibrosis; clarification of the harmonised international definition.

PMID: 31027826
Journal: Journal of Cystic Fibrosis
Year: 2019
Reference: J Cyst Fibros. 2019 Nov;18(6):778-780. doi: 10.1016/j.jcf.2019.04.010. Epub 2019 Apr 24.
Impact factor: 4.29
Publication type: Paper in international publication
Authors: Castellani, C, Mayell, S J, Davies, J C, Winters, V, Murphy, J, Salinas, D, McColley, S A, Ren, C L, Farrell, P M, Munck, A et al.
DOI: 10.1016/j.jcf.2019.04.010

[Follow-up protocol of patients with cystic fibrosis diagnosed by newborn screening].

PMID: 30598406
Journal: ANALES DE PEDIATRIA
Year: 2019
Reference: An Pediatr (Barc). 2019 Apr;90(4):251.e1-251.e10. doi: 10.1016/j.anpedi.2018.11.009. Epub 2018 Dec 28.
Impact factor: 1.166
Publication type: Paper in national publication
Authors: Gartner, Silvia, Mondejar-Lopez, Pedro, Asensio de la Cruz, Oscar et al.
DOI: 10.1016/j.anpedi.2018.11.009

Bacteria from bronchoalveolar lavage fluid from children with suspected chronic lower respiratory tract infection: results from a multi-center, cross-sectional study in Spain.

PMID: 29285648
Journal: EUROPEAN JOURNAL OF PEDIATRICS
Year: 2018
Reference: Eur J Pediatr. 2018 Feb;177(2):181-192. doi: 10.1007/s00431-017-3044-3. Epub 2017 Dec 29.
Impact factor:
Publication type: Paper in international publication
Authors: Asensio de la Cruz, Oscar; Barrio Gomez de Aguero, Maribel; Castillo Corullon, Silvia; de la Serna Blazquez, Olga; Escribano Montaner, Amparo; Feng, Yang; Garcia de Lomas, Juan; Garcia-Corbeira, Pilar; Mondejar Lopez, Pedro; Moreno Galdo, Antonio et al.
DOI: 10.1007/s00431-017-3044-3

Validation of Global Lung Function Initiative and All Ages Reference Equations for Forced Spirometry in Healthy Spanish Preschoolers.

PMID: 28935165
Journal: ARCHIVOS DE BRONCONEUMOLOGIA
Year: 2018
Reference: Arch Bronconeumol. 2018 Jan;54(1):24-30. doi: 10.1016/j.arbres.2017.07.019. Epub 2017 Sep 19.
Impact factor:
Publication type: Paper in national publication
Authors: Carrascosa Lezcano, Antonio; de Mir Messa, Ines; Gartner, Silvia; Iglesias Serrano, Ignacio; Martin de Vicente, Carlos; Moreno Galdo, Antonio; Rovira Amigo, Sandra; Torrent Vernetta, Alba et al.
DOI: 10.1016/j.arbres.2017.07.019

Clinical study of a patient with congenital myotonic dystrophy reveals chylothorax as neonatal presentation of the disease

PMID: NOPMID0074
Journal: CASE REPORTS IN PERINATAL MEDICINE
Year: 2018
Reference: Case Reports in Perinatal Medicine. 2018 Mar 28;7(1). doi: 10.1515/crpm-2017-0025
Impact factor: 0
Publication type: Paper in international publication
Authors: Valenzuela, Irene, Lines, Marcos, Martinez-Saez, Elena, Cueto-Gonzalez, Ana, Castillo, Felix, Tizzano, Eduardo et al.
DOI: 10.1515/crpm-2017-0025

What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis.

PMID: 29499646
Journal: BMC Medical Genetics
Year: 2018
Reference: BMC Med Genet. 2018 Mar 2;19(1):32. doi: 10.1186/s12881-018-0530-z.
Impact factor: 1.913
Publication type: Paper in international publication
Authors: Pereda, Arrate, Garin, Intza, Perez de Nanclares, Guiomar, Anda, E, Berrade, S, Sanchis Calvo, A, Moreno Macian, F, Cruz-Rojo, J, Garzon Lorenzo, L, Sanchez Del Pozo, J et al.
DOI: 10.1186/s12881-018-0530-z

The expansion and performance of national newborn screening programmes for cystic fibrosis in Europe.

PMID: 28043799
Journal: Journal of Cystic Fibrosis
Year: 2017
Reference: J Cyst Fibros. 2017 Mar;16(2):207-213. doi: 10.1016/j.jcf.2016.12.012. Epub 2016 Dec 30.
Impact factor: 4.727
Publication type: Paper in international publication
Authors: Linnane, Barry, Mayell, Sarah, Munck, Anne, Sands, Dorota, Sommerburg, Olaf, Pybus, Simon, Winters, Victoria, Southern, Kevin W, Kashirskaya, Nataliya, Gartner, Silvia et al.
DOI: 10.1016/j.jcf.2016.12.012

Proxy-reported quality of life in adolescents and adults with dyskinetic cerebral palsy is associated with executive functions and cortical thickness.

PMID: 27766516
Journal: QUALITY OF LIFE RESEARCH
Year: 2017
Reference: Qual Life Res. 2017 May;26(5):1209-1222. doi: 10.1007/s11136-016-1433-0. Epub 2016 Oct 20.
Impact factor: 2.429
Publication type: Paper in international publication
Authors: Pueyo, R, Segarra, D, Toro-Tamargo, E, Botellero, V L, Laporta-Hoyos, O, Ballester-Plane, J, Poo, P, Macaya, A, Melendez-Plumed, M, Vazquez, E et al.
DOI: 10.1007/s11136-016-1433-0

Somapacitan, a once-weekly reversible albumin-binding GH derivative, in children with GH deficiency: A randomized dose-escalation trial.

PMID: 28656605
Journal: CLINICAL ENDOCRINOLOGY
Year: 2017
Reference: Clin Endocrinol (Oxf). 2017 Oct;87(4):350-358. doi: 10.1111/cen.13409. Epub 2017 Aug 8.
Impact factor: 3.327
Publication type: Paper in international publication
Authors: Battelino, Tadej, Rasmussen, Michael Hojby, De Schepper, Jean, Gucev, Zoran, Zuckerman-Levin, Nehama, Zerjav-Tansek, M, Savendahl, Lars, Frohlich-Reiterer, E, Schmitt, K, Furthner, D et al.
DOI: 10.1111/cen.13409

Nutritional rickets: vitamin D, calcium, and the genetic make-up.

PMID: 27973470
Journal: PEDIATRIC RESEARCH
Year: 2017
Reference: Pediatr Res. 2017 Feb;81(2):356-363. doi: 10.1038/pr.2016.222. Epub 2016 Nov 3.
Impact factor: 2.882
Publication type: Paper in international publication
Authors: El Kholy, Mohamed, Elsedfy, Heba, Fernandez-Cancio, Monica, Hamza, Rasha Tarif, Amr, Nermine Hussein, Ahmed, Alaa Youssef, Toaima, Nadin Nabil, Audi, Laura et al.
DOI: 10.1038/pr.2016.222

Latitudinal Clines of the Human Vitamin D Receptor and Skin Color-Genes.

PMID: 26921301
Journal: G3-Genes Genomes Genetics
Year: 2016
Reference: G3 (Bethesda). 2016 May 3;6(5):1251-66. doi: 10.1534/g3.115.026773.
Impact factor: 2.91
Publication type: Paper in international publication
Authors: El Kholy, Mohamed, Tiosano, Dov, Audi, Laura, Climer, Sharlee, Zhang, Weixiong, Templeton, Alan R, Fernandez-Cancio, Monica, Gershoni-Baruch, Ruth, Sanchez-Muro, Jose Miguel, Hochberg, Ze'ev et al.
DOI: 10.1534/g3.115.026773

Use of inhaled iloprost in children with pulmonary hypertension.

PMID: 24729548
Journal: PEDIATRIC PULMONOLOGY
Year: 2015
Reference: Pediatr Pulmonol. 2015 Apr;50(4):370-9. doi: 10.1002/ppul.23044. Epub 2014 Apr 11.
Impact factor: 2.704
Publication type: Paper in international publication
Authors: Moreno-Galdo, Antonio, Torrent-Vernetta, Alba, de Mir Messa, Ines, Amigo, Sandra Rovira, Pina, Ferran Gran, Gartner, Silvia, Brotons, Dimpna Albert et al.
DOI: 10.1002/ppul.23044

Management of pulmonary exacerbations in cystic fibrosis: still an unmet medical need in clinical practice.

PMID: 25692532
Journal: Expert Review of Medical Devices
Year: 2015
Reference: Expert Rev Respir Med. 2015 Apr;9(2):183-94. doi: 10.1586/17476348.2015.1016504. Epub 2015 Feb 18.
Impact factor: 1.683
Publication type: Review in national publication
Authors: Justicia, Jose Luis, Sole, Amparo, Quintana-Gallego, Esther, Gartner, Silvia, de Gracia, Javier, Prados, Concepcion, Maiz, Luis et al.
DOI: 10.1586/17476348.2015.1016504

[Plasma vitamin D levels in native and immigrant children under the age of 6 years of different ethnic origins].

PMID: 25066596
Journal: ANALES DE PEDIATRIA
Year: 2015
Reference: An Pediatr (Barc). 2015 May;82(5):316-24. doi: 10.1016/j.anpedi.2014.05.007. Epub 2014 Jul 22.
Impact factor: 0.833
Publication type: Paper in national publication
Authors: Fernandez Cancio, M, Audi Parera, L, Carrascosa Lezcano, A, Marin Munoz, A, Yeste Fernandez, D, Sanchez Muro, J M et al.
DOI: 10.1016/j.anpedi.2014.05.007

Complete androgen insensitivity syndrome associated with male gender identity or female precocious puberty in the same family.

PMID: 25633053
Journal: Sexual Development
Year: 2015
Reference: Sex Dev. 2015;9(2):75-9. doi: 10.1159/000371617. Epub 2015 Jan 29.
Impact factor: 2.288
Publication type: Paper in international publication
Authors: Bermudez de la Vega, Jose A, Fernandez-Cancio, Monica, Bernal, Susana, Audi, Laura et al.
DOI: 10.1159/000371617

Loss of the C Terminus of Melanocortin Receptor 2 (MC2R) Results in Impaired Cell Surface Expression and ACTH Insensitivity.

PMID: 20962024
Journal: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Year: 2011
Reference: J Clin Endocrinol Metab. 2011 Jan;96(1):E65-72. Epub 2010 Oct 20.
Impact factor: 6.495
Publication type: Paper in international publication
Authors: , , , , , , , et al.
DOI: 10.1210/jc.2010-1056

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News

The study, in which Vall d'Hebron participates, helps to understand the variability among patients with retinitis pigmentosa.

Es va reconèixer la tasca de més de 70 professionals dedicades a aquesta malaltia pulmonar, tant assistencial com de recerca.

The two studies awarded has been the research for a the ciliary dyskinesia diagnosis led by the VHIR’s Growth and Development Group and the EPISCAN II, in which Dr. Miravitlles has participated.