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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

Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization.

PMID: 35012964
Journal: NEUROLOGY
Year: 2022
Reference: Neurology. 2022 Mar 1;98(9):e912-e923. doi: 10.1212/WNL.0000000000013278. Epub 2022 Jan 10.
Impact factor:
Publication type: Paper in international publication
Authors: Aguilera-Albesa, Sergio; Armstrong, Judith; Artuch, Rafael; Beltran, Sergi; Casasnovas, Carlos; Conejo, David; Del Toro, Mireia; Fourcade, Stephane; Garcia-Cazorla, Angels; Giros, Marisa et al.
DOI: 10.1212/WNL.0000000000013278

Genetic diagnosis of basal ganglia disease in childhood.

PMID: 34988976
Journal: DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
Year: 2022
Reference: Dev Med Child Neurol. 2022 Jun;64(6):743-752. doi: 10.1111/dmcn.15125. Epub 2022 Jan 5.
Impact factor:
Publication type: Paper in international publication
Authors: Baide-Mairena, Heidy; Cazurro-Gutierrez, Ana; Delgado, Ignacio; Garcia-Arumi, Elena; Macaya-Ruiz, Alfons; Marce-Grau, Anna; Marti-Sanchez, Laura; Moreno-Galdo, Antonio; Perez-Duenas, Belen; Sanchez-Montanez, Angel et al.
DOI: 10.1111/dmcn.15125

Genetic diagnosis of basal ganglia disease in childhood.

PMID: 34988976
Journal: DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
Year: 2022
Reference: Dev Med Child Neurol. 2022 Jun;64(6):743-752. doi: 10.1111/dmcn.15125. Epub 2022 Jan 5.
Impact factor: 5.449
Publication type: Paper in international publication
Authors: Baide-Mairena, Heidy; Marti-Sanchez, Laura; Marce-Grau, Anna; Cazurro-Gutierrez, Ana; Sanchez-Montanez, Angel; Delgado, Ignacio; Moreno-Galdo, Antonio; Macaya-Ruiz, Alfons; Garcia-Arumi, Elena; Perez-Duenas, Belen et al.
DOI: 10.1111/dmcn.15125

Antimicrobial defined daily dose in neonatal population.

PMID: 35120651
Journal: ENFERMEDADES INFECCIOSAS Y MICROBIOLOGIA CLINICA
Year: 2022
Reference: Enferm Infecc Microbiol Clin (Engl Ed). 2022 Feb;40(2):59-65. doi: 10.1016/j.eimce.2021.05.012.
Impact factor: 1.731
Publication type: Paper in international publication
Authors: Villanueva-Bueno, Cristina; Montecatine-Alonso, Elena; Jimenez-Parrilla, Francisco; Fernandez-Llamazares, Cecilia M; Manrique-Rodriguez, Silvia; Zamora-Flores, Elena; Dolz, Elisenda; Fernandez-Polo, Aurora; Catillo-Salinas, Felix; Comunas, Juanjo et al.
DOI: 10.1016/j.eimce.2021.05.012

Abernethy Malformation: An Unusual Extrathoracic Cause of Chronic Hypoxemia in Pediatrics.

PMID: 35698994
Journal: ARCHIVOS DE BRONCONEUMOLOGIA
Year: 2021
Reference: Arch Bronconeumol. 2021 Dec;57(12):782-784. doi: 10.1016/j.arbr.2021.02.005. Epub 2021 Dec 1.
Impact factor:
Publication type: Other (letters to the editor, abstracts, corrigendum, etc.)
Authors: Figueras-Coll, Marc; Iglesias-Serrano, Ignacio; Penas-Aguilera, Andreu; Perez-Lafuente, Mercedes; Sabate-Rotes, Anna et al.
DOI: 10.1016/j.arbr.2021.02.005

Long-term Follow-up in Adult Patients with Cystic Fibrosis and Deep Intronic Splicing Variants.

PMID: 35698963
Journal: ARCHIVOS DE BRONCONEUMOLOGIA
Year: 2021
Reference: Arch Bronconeumol. 2021 Jul;57(7):501-503. doi: 10.1016/j.arbr.2020.11.017.
Impact factor: 4.872
Publication type: Letter or abstract
Authors: Polverino, Eva, Culebras, Mario, Clofent, David, Garcia Arumi, Elena, Tizzano, Eduardo F, de Gracia, Javier, Gartner, Silvia, Fernandez-Alvarez, Paula, Alvarez, Antonio, Loor, Karina et al.
DOI: 10.1016/j.arbr.2020.11.017

How abnormal is the normal? Clinical characteristics of CF patients with normal FEV1.

PMID: 33704929
Journal: PEDIATRIC PULMONOLOGY
Year: 2021
Reference: Pediatr Pulmonol. 2021 Jul;56(7):2007-2013. doi: 10.1002/ppul.25371. Epub 2021 Mar 26.
Impact factor: 3.039
Publication type: Paper in international publication
Authors: Israeli, Tomer, Tsabari, Reuven, Shoseyov, David, Gileles-Hillel, Alex, Breuer, Oded, Simanovsky, Natalia, Kerem, Eitan, Eisenstadt, Iris, Garriga, Laura, Reiter, Joel et al.
DOI: 10.1002/ppul.25371

Smartphone App for monitoring Asthma in children and adolescents.

PMID: 33387290
Journal: QUALITY OF LIFE RESEARCH
Year: 2021
Reference: Qual Life Res. 2021 Nov;30(11):3127-3144. doi: 10.1007/s11136-020-02706-z. Epub 2021 Jan 2.
Impact factor: 4.147
Publication type: Paper in international publication
Authors: Mayoral, K, Garin, O, Caballero-Rabasco, M A, Praena-Crespo, M, Bercedo, A, Hernandez, G, Castillo, J, Lizano Barrantes, C, Pardo, Y, Ferrer, M et al.
DOI: 10.1007/s11136-020-02706-z

Current transition management of adolescents and young adults with allergy and asthma: a European survey.

PMID: 33042515
Journal: Clinical and Translational Allergy
Year: 2020
Reference: Clin Transl Allergy. 2020 Oct 7;10:40. doi: 10.1186/s13601-020-00340-z. eCollection 2020.
Impact factor: 5.129
Publication type: Paper in international publication
Authors: Roberts, Graham, Pfaar, Oliver, Khaleva, Ekaterina, Vazquez-Ortiz, Marta, Comberiati, Pasquale, DunnGalvin, Audrey, Pite, Helena, Blumchen, Katharina, Garriga-Baraut, Teresa, Hox, Valerie et al.
DOI: 10.1186/s13601-020-00340-z

Perinatal outcomes and central nervous system abnormalities following intrauterine fetal transfusion: 17 years' experience in a tertiary center.

PMID: 32955746
Journal: TRANSFUSION
Year: 2020
Reference: Transfusion. 2020 Nov;60(11):2557-2564. doi: 10.1111/trf.16087. Epub 2020 Sep 21.
Impact factor: 2.8
Publication type: Paper in international publication
Authors: Sanchez-Duran, Maria Angeles, Higueras, Maria Teresa, Aviles-Garcia, Mayte, Maiz, Nerea, Rodriguez-Aliberas, Marta, Arevalo, Silvia, Vazquez, Elida, Ruiz Campillo, Cesar W, Carreras, Elena et al.
DOI: 10.1111/trf.16087

Brain paraneoplastic syndromes in a patient with mediastinal ganglioneuroma.

PMID: 32944100
Journal: Radiology case reports
Year: 2020
Reference: Radiol Case Rep. 2020 Sep 2;15(11):2059-2062. doi: 10.1016/j.radcr.2020.08.010. eCollection 2020 Nov.
Impact factor: 0
Publication type: Letter or abstract
Authors: Escudero-Fernandez, Jose Migue, Garcia-Carpintero, Angel Sanchez-Montanez, Delgado-Alvarez, Ignacio, Castellote-Alonso, Amparo, Vazquez-Mendez, Elida Josefa et al.
DOI: 10.1016/j.radcr.2020.08.010

Reply to "Diagnostic criteria sets sensitivity".

PMID: 32888538
Journal: Journal of Allergy and Clinical Immunology-In Practice
Year: 2020
Reference: J Allergy Clin Immunol Pract. 2020 Sep;8(8):2840-2841.e1. doi: 10.1016/j.jaip.2020.05.038.
Impact factor: 7.574
Publication type: Letter or abstract
Authors: Vazquez-Ortiz, Marta, Argiz, Laura, Machinena, Adrianna, Echeverria, Luis, Blasco, Cristina, Prieto, Ana, Infante, Sonsoles, Vila, Leticia, Garcia, Emilio, Gonzalez-Delgado, Purificacion et al.
DOI: 10.1016/j.jaip.2020.05.038

A Novel Homozygous AMRH2 Gene Mutation in a Patient with Persistent Mullerian Duct Syndrome.

PMID: 30933950
Journal: Sexual Development
Year: 2019
Reference: Sex Dev. 2019;13(2):87-91. doi: 10.1159/000499324. Epub 2019 Apr 2.
Impact factor: 2.25
Publication type: Paper in international publication
Authors: Fernandez-Cancio, Monica, Viswanath, Naveen, Puzhankara, Ramakrishnan, Valiyaprambil Pavithran, Praveen, Mora-Palma, Cristina, Camats, Nuria, Audi, Laura, Benito-Sanz, Sara et al.
DOI: 10.1159/000499324

Isolated pulmonary interstitial glycogenosis associated with alveolar growth abnormalities: A long-term follow-up study.

PMID: 30912317
Journal: PEDIATRIC PULMONOLOGY
Year: 2019
Reference: Pediatr Pulmonol. 2019 Jun;54(6):837-846. doi: 10.1002/ppul.24324. Epub 2019 Mar 25.
Impact factor: 2.801
Publication type: Paper in international publication
Authors: Sardon, Olaia, Torrent-Vernetta, Alba, Rovira-Amigo, Sandra, Dishop, Megan K, Ferreres, Joan Carles, Navarro, Alexandra, Corcuera, Paula, Korta-Murua, Javier, Pena, Pilar Garcia, Perez-Belmonte, Elena et al.
DOI: 10.1002/ppul.24324

Role of Immunofluorescence and Molecular Diagnosis in the Characterization of Primary Ciliary Dyskinesia.

PMID: 30850195
Journal: ARCHIVOS DE BRONCONEUMOLOGIA
Year: 2019
Reference: Arch Bronconeumol. 2019 Aug;55(8):439-441. doi: 10.1016/j.arbres.2019.01.021. Epub 2019 Mar 5.
Impact factor: 4.214
Publication type: Paper in national publication
Authors: Baz-Redon, Noelia, Rovira-Amigo, Sandra, Camats-Tarruella, Nuria, Fernandez-Cancio, Monica, Garrido-Pontnou, Marta, Antolin, Maria, Reula, Ana, Armengot-Carceller, Miguel, Carrascosa, Antonio, Moreno-Galdo, Antonio et al.
DOI: 10.1016/j.arbres.2019.01.021

Pregnancy outcomes after maternal Zika virus infection in a non-endemic region: prospective cohort study.

PMID: 30771526
Journal: CLINICAL MICROBIOLOGY AND INFECTION
Year: 2019
Reference: Clin Microbiol Infect. 2019 May;25(5):633.e5-633.e9. doi: 10.1016/j.cmi.2019.02.008. Epub 2019 Feb 14.
Impact factor: 6.425
Publication type: Paper in international publication
Authors: Garrido, Marta, Frick, Antoinette, Rodrigo, Carlos, Pumarola, Tomas, Carreras, Elena, Mendez, Elida Vazquez, Anton, Andres, Rando, Ariadna, Arevalo, Silvia, Rodo, Carlota et al.
DOI: 10.1016/j.cmi.2019.02.008

Measurements of signal intensity of globus pallidus and dentate nucleus suggest different deposition characteristics of macrocyclic GBCAs in children.

PMID: 30586415
Journal: PLoS One
Year: 2018
Reference: PLoS One. 2018 Dec 26;13(12):e0208589. doi: 10.1371/journal.pone.0208589. eCollection 2018.
Impact factor: 2.766
Publication type: Paper in international publication
Authors: Olchowy, Cyprian, Maciag, Ewa J, Sanchez-Montanez, Angel, Olchowy, Anna, Delgado, Ignacio, Vazquez, Elida et al.
DOI: 10.1371/journal.pone.0208589

Tacrolimus as an Effective and Safe Therapeutic Alternative in Vernal Keratoconjunctivitis Resistant to Conventional Treatment.

PMID: 30350791
Journal: JOURNAL OF INVESTIGATIONAL ALLERGOLOGY AND CLINICAL IMMUNOLOGY
Year: 2018
Reference: J Investig Allergol Clin Immunol. 2018 Oct;28(5):345-346. doi: 10.18176/jiaci.0282.
Impact factor: 3.457
Publication type: Paper in international publication
Authors: Gonzalez-Medina, M, Blasco-Valero, C, Martin-Begue, N, Vila-Indurain, B, Garriga-Baraut, T et al.
DOI: 10.18176/jiaci.0282

[Management guidelines for disorders / different sex development (SDS)].

PMID: 30033107
Journal: ANALES DE PEDIATRIA
Year: 2018
Reference: An Pediatr (Barc). 2018 Nov;89(5):315.e1-315.e19. doi: 10.1016/j.anpedi.2018.06.009. Epub 2018 Jul 20.
Impact factor: 1.318
Publication type: Paper in national publication
Authors: Guerrero-Fernandez, Julio, Azcona San Julian, Cristina, Barreiro Conde, Jesus, Bermudez de la Vega, Jose Antonio, Carcavilla Urqui, Atilano, Castano Gonzalez, Luis Antonio, Martos Tello, Jose Maria, Rodriguez Estevez, Amaya, Yeste Fernandez, Diego, Martinez Martinez, Leopoldo et al.
DOI: 10.1016/j.anpedi.2018.06.009

Brain lesion scores obtained using a simple semi-quantitative scale from MR imaging are associated with motor function, communication and cognition in dyskinetic cerebral palsy.

PMID: 30013928
Journal: NeuroImage-Clinical
Year: 2018
Reference: Neuroimage Clin. 2018 Jun 14;19:892-900. doi: 10.1016/j.nicl.2018.06.015. eCollection 2018.
Impact factor: 3.869
Publication type: Paper in international publication
Authors: Pueyo, Roser, Laporta-Hoyos, Olga, Fiori, Simona, Pannek, Kerstin, Ballester-Plane, Julia, Leiva, David, Reid, Lee B, Pagnozzi, Alex M, Vazquez, Elida, Delgado, Ignacio et al.
DOI: 10.1016/j.nicl.2018.06.015

Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome.

PMID: 28165343
Journal: JOURNAL OF CLINICAL INVESTIGATION
Year: 2017
Reference: J Clin Invest. 2017 Mar 1;127(3):942-953. doi: 10.1172/JCI90171. Epub 2017 Feb 6.
Impact factor: 12.784
Publication type: Paper in international publication
Authors: Storr, Helen L, Clemente, Maria, Fernandez-Cancio, Monica, Camats, Nuria, Ram, Nanik, Achermann, John C, Van Veldhoven, Paul P, Guasti, Leonardo, Braslavsky, Debora, Yesilkaya, Ediz et al.
DOI: 10.1172/JCI90171

Adiponectin, Leptin and Inflammatory Markers in HIV-Associated Metabolic Syndrome in Children and Adolescents.

PMID: 27832021
Journal: PEDIATRIC INFECTIOUS DISEASE JOURNAL
Year: 2017
Reference: Pediatr Infect Dis J. 2017 Feb;36(2):e31-e37. doi: 10.1097/INF.0000000000001394.
Impact factor: 2.587
Publication type: Paper in international publication
Authors: Noguera-Julian, Antoni, Soler-Palacin, Pere, Fortunyc, Claudi, Ferrer, Roser, Comas, Immaculada, Martin-Nalda, Andrea, Deya-Martinez, Angela, Figueras, Concepcio, Carrascosa, Antonio, Yeste, Diego et al.
DOI: 10.1097/INF.0000000000001394

Intravenous immunoglobulin as monotherapy for myasthenia gravis during pregnancy.

PMID: 29246598
Journal: JOURNAL OF THE NEUROLOGICAL SCIENCES
Year: 2017
Reference: J Neurol Sci. 2017 Dec 15;383:118-122. doi: 10.1016/j.jns.2017.10.037. Epub 2017 Nov 6.
Impact factor: 2.295
Publication type: Paper in international publication
Authors: Gamez, Josep, Salvado, Maria, Casellas, Manel, Manrique, Susana, Castillo, Felix et al.
DOI: 10.1016/j.jns.2017.10.037

The economic impact of prematurity and bronchopulmonary dysplasia.

PMID: 28889192
Journal: EUROPEAN JOURNAL OF PEDIATRICS
Year: 2017
Reference: Eur J Pediatr. 2017 Dec;176(12):1587-1593. doi: 10.1007/s00431-017-3009-6. Epub 2017 Sep 9.
Impact factor: 1.921
Publication type: Paper in international publication
Authors: Del Cerro, Maria Jesus, Gavilan, Jose Luis, Torrent, Alba, Lopez-Ortego, Paloma, Alvarez-Fuente, Maria, Arruza, Luis, Muro, Marta, Zozaya, Carlos, Avila, Alejandro, Gonzalez-Armengod, Carmen et al.
DOI: 10.1007/s00431-017-3009-6

Impact of the implementation of an interdisciplinary infection control program to prevent surgical wound infection in pediatric heart surgery.

PMID: 25652766
Journal: EUROPEAN JOURNAL OF PEDIATRICS
Year: 2015
Reference: Eur J Pediatr. 2015 Jul;174(7):957-63. doi: 10.1007/s00431-015-2493-9. Epub 2015 Feb 5.
Impact factor: 1.89
Publication type: Paper in international publication
Authors: Izquierdo-Blasco, Jaume, Campins-Marti, Magda, Soler-Palacin, Pere, Balcells, Joan, Abella, Raul, Gran, Ferran, Castillo, Felix, Nuno, Rosario, Sanchez-de-Toledo, Joan et al.
DOI: 10.1007/s00431-015-2493-9

LRH-1 May Rescue SF-1 Deficiency for Steroidogenesis: An in vitro and in vivo Study.

PMID: 25896302
Journal: Sexual Development
Year: 2015
Reference: Sex Dev. 2015;9(3):144-54. doi: 10.1159/000381575. Epub 2015 Apr 17.
Impact factor: 2.288
Publication type: Paper in international publication
Authors: Camats, Nuria, Audi, Laura, Fernandez-Cancio, Monica, Andaluz, Pilar, Mullis, Primus E, Carrascosa, Antonio, Fluck, Christa E et al.
DOI: 10.1159/000381575

Spanish consensus on the prevention and treatment of Pseudomonas aeruginosa bronchial infections in cystic fibrosis patients.

PMID: 25614377
Journal: ARCHIVOS DE BRONCONEUMOLOGIA
Year: 2015
Reference: Arch Bronconeumol. 2015 Mar;51(3):140-50. doi: 10.1016/j.arbres.2014.09.021. Epub 2015 Jan 20.
Impact factor: 1.823
Publication type: Paper in national publication
Authors: Canton, Rafael, Maiz, Luis, Escribano, Amparo, Olveira, Casilda, Oliver, Antonio, Asensio, Oscar, Gartner, Silvia, Roma, Eva, Quintana-Gallego, Esther, Salcedo, Antonio et al.
DOI: 10.1016/j.arbres.2014.09.021

[Allergic asthma.]

PMID: 25433783
Journal: MEDICINA CLINICA
Year: 2015
Reference: Med Clin (Barc). 2015 Mar 9;144(5):216-22. doi: 10.1016/j.medcli.2014.08.009. Epub 2014 Nov 26.
Impact factor: 1.417
Publication type: Paper in national publication
Authors: Cardona, Victoria, Garriga, Teresa et al.
DOI: 10.1016/j.medcli.2014.08.009

Blog

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.