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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.

Team

Jose Miguel Escudero Fernandez

Jose Miguel Escudero Fernandez

Predoctoral researcher
Growth and Development
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Ana Creus Molins

Ana Creus Molins

Predoctoral researcher
Growth and Development
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Castillo Martínez, María

Castillo Martínez, María

Predoctoral researcher
Growth and Development
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Cristina Aguilar Riera

Cristina Aguilar Riera

Growth and Development
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Elida Teresa Mercado Santis

Elida Teresa Mercado Santis

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Espinoza  Lira, Miguel Enrique

Espinoza Lira, Miguel Enrique

Postdoctoral researcher
Growth and Development
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Jose Miguel Escudero Fernandez

Jose Miguel Escudero Fernandez

Predoctoral researcher
Growth and Development
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Ana Creus Molins

Ana Creus Molins

Predoctoral researcher
Growth and Development
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Castillo Martínez, María

Castillo Martínez, María

Predoctoral researcher
Growth and Development
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Cristina Aguilar Riera

Cristina Aguilar Riera

Growth and Development
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Elida Teresa Mercado Santis

Elida Teresa Mercado Santis

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Espinoza  Lira, Miguel Enrique

Espinoza Lira, Miguel Enrique

Postdoctoral researcher
Growth and Development
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Research lines

Normal Growth and development pattern in children.

Longitudinal study of growth 1995-2017. Longitudinal studies of growth require a very long follow-up period, about 20 years, but they allow to correctly evaluate pubertal growth by providing differentiated data for children who initiate pubertal maturation at an early, intermediate or late time. In this study, 1,453 healthy non-obese subjects (743 women, 710 males) who reached adult height between January 2012 and January 2017 were included, which allowed the development of height, weight and body mass index charts, with the particularity of including separated charts for the different phenotypes of pubertal maturation (very early, early, intermediate, late and very late). This allows a much more accurate assessment of pubertal growth.

In addition to the publication of the results, a website "Millennials Growth. Longitudinal growth study 1995-2017", which includes the growth charts performed with the LMS method, an auxologic calculation program for health professionals, and two Apps (Android and iOS) has been developed. This will allow their use by all health professionals and we believe it will be a very valuable tool for the assessment and monitoring of normal and pathological growth in children.

IP: Monica Fernandez Cancio

Paediatric neuroradiology and Prenatal magnetic resonance: postnatal development correlation.

We are exploring the role of new imaging techniques in children with congenital malformations and other rare diseases with the aim of improving their diagnosis and avoid radiation exposure.

IP: Josefa Élida Vázquez Méndez

Preterm respiratory diseases and the influence of nutrition.

Bronchopulmonary dysplasia. Our current line in this subject is centered in studying the role of imaging in predicting the outcome of preterm babies with this chronic respiratory disease.

Omega-3 fatty acids supplementation and oxidative stress in preterm infants. The goal of this study is whether omega-3 fatty acids supplementation can decrease the incidence and severity of bronchopulmonary dysplasia and preterm retinopathy.

IP: Félix Castillo Salinas

Rare respiratory diseases: Primary ciliary dyskinesia, Paediatric interstitial lung diseases and paediatric pulmonary hypertension.

1.1 Primary ciliary dyskinesia (PCD): We are a referral centre for diagnosis of PCD and we have established a clinical and research collaboration network with other national and international PCD diagnostic centres. 

1.2 Paediatric interstitial lung diseases. We are leading the Spanish ISCIII registry for paediatric interstitial lung diseases and have started a project to characterize the incidence and the molecular basis of these rare diseases in Spain. We have international collaborations in this field (chILD EU registry and an E-rare 3 funded clinical trial).

1.3 Paediatric pulmonary hypertension. We have an active collaboration with the Spanish Registry of Paediatric Pulmonary Hypertension (REHIPED) and are developing an intense epidemiologic research in this area.


IP: Antonio Moreno Galdó

Projects

Creixement i Desenvolupament

IP: Antonio Moreno Galdó
Collaborators: Maria Clemente Leon, Diego Yeste Fernandez, Félix Castillo Salinas, Monica Fernandez Cancio, Inés de Mir Messa, Ariadna Campos Martorell, Sandra Rovira Amigo, Alba Torrent Vernetta, Ana Díez Izquierdo, Noelia Baz Redón, SILVIA GARTNER TIZZANO
Funding agency: Agència Gestió Ajuts Universitaris i de Recerca
Funding: 0.01
Reference: 2021 SGR 00779
Duration: 01/01/2022 - 30/06/2025

Primary ciliary dyskinesia in adult bronchiectasis. Diagnostic strategy based on next generation sequencing gene panel analysis.

IP: Antonio Moreno Galdó
Collaborators: Antonio Álvarez Fernandez, David Clofent Alarcón, Sandra Rovira Amigo, Alba Torrent Vernetta, Noelia Baz Redón
Funding agency: Instituto de Salud Carlos III
Funding: 134915
Reference: PI20/01419
Duration: 01/01/2021 - 30/06/2025

Publications

Implementation of the Spanish Paediatric Bronchiectasis Registry (Child-BEAR-es Registry).

PMID: 38755057
Journal: ARCHIVOS DE BRONCONEUMOLOGIA
Year: 2024
Reference: Arch Bronconeumol. 2024 May 6:S0300-2896(24)00143-1. doi: 10.1016/j.arbres.2024.05.003.
Impact factor:
Publication type: Editorail in international publication
Authors: Garriga-Grimau, Laura; Moreno-Galdo, Antonio; Sanz-Santiago, Veronica et al.
DOI: 10.1016/j.arbres.2024.05.003

ERS statement on transition of care in childhood interstitial lung diseases.

PMID: 38843911
Journal: EUROPEAN RESPIRATORY JOURNAL
Year: 2024
Reference: Eur Respir J. 2024 Jun 6:2302160. doi: 10.1183/13993003.02160-2023.
Impact factor:
Publication type: Paper in international publication
Authors: Bush, Andrew; Carlens, Julia; Chua, Felix; Epaud, Ralph; Gilbert, Carlee; Griese, Matthias; Karadag, Bulent; Kerem, Eitan; Koucky, Vaclav; Manali, Effrosyni et al.
DOI: 10.1183/13993003.02160-2023

Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation.

PMID: 38881224
Journal: MOVEMENT DISORDERS
Year: 2024
Reference: Mov Disord. 2024 Jun 16. doi: 10.1002/mds.29881.
Impact factor:
Publication type: Paper in international publication
Authors: Cazurro-Gutierrez, Ana; da Silva Cardoso, Juliana; De la Casa-Fages, Beatriz; Gomez-Andres, David; Katanaev, Vladimir L; Koval, Alexey; Larasati, Yonika A; Lasa-Aranzasti, Amaia; Miranda, Maria Concepcion; Moreno-Galdo, Antonio et al.
DOI: 10.1002/mds.29881

Analyses of 1,236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.

PMID: 38871375
Journal: EUROPEAN RESPIRATORY JOURNAL
Year: 2024
Reference: Eur Respir J. 2024 Jun 13:2301769. doi: 10.1183/13993003.01769-2023.
Impact factor:
Publication type: Paper in international publication
Authors: Amirav, Israel; Athanazio, Rodrigo A; Aviram, Micha; Balinotti, Juan E; Bar-On, Ophir; Bode, Sebastian Fn; Boon, Mieke; Borrelli, Melissa; Carr, Siobhan B; Crowley, Suzanne et al.
DOI: 10.1183/13993003.01769-2023

European recommendations on practices in pediatric neuroradiology: consensus document from the European Society of Neuroradiology (ESNR), European Society of Paediatric Radiology (ESPR) and European Union of Medical Specialists Division of Neuroradiology (UEMS).

PMID: 36063184
Journal: PEDIATRIC RADIOLOGY
Year: 2023
Reference: Pediatr Radiol. 2023 Jan;53(1):159-168. doi: 10.1007/s00247-022-05479-4. Epub 2022 Sep 5.
Impact factor:
Publication type: Review in international publication
Authors: Adamsbaum, Catherine; Altmann-Schneider, Irmhild; Argyropoulou, Maria; Boulouis, Gregoire; Chateil, Jean-Francois; Connolly, Daniel J; D'Arco, Felice; Dangouloff-Ros, Volodia; Donoghue, Veronica; Girard, Nadine et al.
DOI: 10.1007/s00247-022-05479-4

First surgical experience treating scoliosis using HGT and ECMO: a case report.

PMID: 36121561
Journal: Spine Deformity
Year: 2023
Reference: Spine Deform. 2023 Mar;11(2):507-511. doi: 10.1007/s43390-022-00588-4. Epub 2022 Sep 19.
Impact factor:
Publication type: Letter or abstract
Authors: Balcells, Joan; Moreira, Felipe; Moreno, Antonio; Nuno, Rosario; Pellise, Ferran; Pujol, Oriol et al.
DOI: 10.1007/s43390-022-00588-4

Analysis of perceived risk and satisfaction with telematic follow-up in patients and families of congenital diaphragmatic hernia patients during SARS-CoV-2 pandemia.

PMID: 35835633
Journal: Journal of Healthcare Quality Research
Year: 2023
Reference: J Healthc Qual Res. 2023 Jan-Feb;38(1):20-25. doi: 10.1016/j.jhqr.2022.05.009. Epub 2022 Jun 23.
Impact factor:
Publication type: Paper in international publication
Authors: de Mir, I; Guillen, G; Iglesias, I; Khan, H A; Lopez Fernandez, S; Lopez, M; Molino, J A; Oliver, B; Rocha, O et al.
DOI: 10.1016/j.jhqr.2022.05.009

Early recognition of SGCE-myoclonus-dystonia in children.

PMID: 35723607
Journal: DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
Year: 2023
Reference: Dev Med Child Neurol. 2023 Feb;65(2):207-214. doi: 10.1111/dmcn.15298. Epub 2022 Jun 20.
Impact factor:
Publication type: Paper in international publication
Authors: Alvarez, Ramiro; Carvalho, Joao; Cazurro-Gutierrez, Ana; Correa-Vela, Marta; Ferrero-Turrion, Julia; Gonzalez, Victoria; Macaya-Ruiz, Alfons; Marce-Grau, Anna; Moreno, Antonio; Perez-Duenas, Belen et al.
DOI: 10.1111/dmcn.15298

Factors associated with clinical progression to severe COVID-19 in people with cystic fibrosis: A global observational study.

PMID: 35753987
Journal: Journal of Cystic Fibrosis
Year: 2022
Reference: J Cyst Fibros. 2022 Jul;21(4):e221-e231. doi: 10.1016/j.jcf.2022.06.006. Epub 2022 Jun 13.
Impact factor:
Publication type: Paper in international publication
Authors: Abdrakhmanov, Olzhas; Allenby, Mark; Alvarez-Fernandez, Antonio; Amelina, Elena; Athanazio, Rodrigo A; Beaumont, Laurence; Bell, Scott C; Bourke, Stephen J; Boussaud, Veronique; Brinchault, Graziella et al.
DOI: 10.1016/j.jcf.2022.06.006

Consensus guide on prophylactic gonadectomy in different sex development.

PMID: 36369235
Journal: Endocrinologia Diabetes y Nutricion
Year: 2022
Reference: Endocrinol Diabetes Nutr (Engl Ed). 2022 Oct;69(8):629-645. doi: 10.1016/j.endien.2022.10.002. Epub 2022 Nov 8.
Impact factor:
Publication type: Paper in national publication
Authors: Alcazar Villar, Maria Jose; Audi Parera, Laura; Azcona San Julian, Maria Cristina; Carcavilla Urqui, Atilano; Castano Gonzalez, Luis Antonio; Gonzalez-Peramato, Pilar; Guerrero-Fernandez, Julio; Martos Tello, Jose Maria; Mora Palma, Cristina; Moreno Macian, Maria Francisca et al.
DOI: 10.1016/j.endien.2022.10.002

Novel variant in HHAT as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both thumbs: Case report.

PMID: 36303863
Journal: Frontiers in Endocrinology
Year: 2022
Reference: Front Endocrinol (Lausanne). 2022 Oct 11;13:957969. doi: 10.3389/fendo.2022.957969. eCollection 2022.
Impact factor:
Publication type: Letter whit IF
Authors: Baz-Redon, Noelia; Benito-Sanz, Sara; Camats-Tarruella, Nuria; Clemente, Maria; Fernandez-Cancio, Monica; Garrido, Marta; Moline, Teresa; Soler-Colomer, Laura; Yeste, Diego et al.
DOI: 10.3389/fendo.2022.957969

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

PMID: 36142358
Journal: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Year: 2022
Reference: Int J Mol Sci. 2022 Sep 9;23(18). pii: ijms231810433. doi: 10.3390/ijms231810433.
Impact factor:
Publication type: Paper in international publication
Authors: Alvarez-Fuente, Maria; Cruz-Utrilla, Alejandro; Escribano-Subias, Pilar; Espin, Juana; Gallego-Zazo, Natalia; Guillen, Inmaculada; Labrandero, Carlos; Marin, Maria Jesus Del Cerro; Moreno-Galdo, Antonio; Moya-Bonora, Amparo et al.
DOI: 10.3390/ijms231810433

Ultrasound criteria (EU-TIRADS) to identify thyroid nodule malignancy risk in adolescents. Correlation with cyto-histological findings.

PMID: 34924161
Journal: Endocrinologia Diabetes y Nutricion
Year: 2021
Reference: Endocrinol Diabetes Nutr (Engl Ed). 2021 Dec;68(10):728-734. doi: 10.1016/j.endien.2020.11.006. Epub 2021 Dec 8.
Impact factor:
Publication type: Paper in international publication
Authors: Arciniegas Vallejo, Larry; Campos-Martorell, Ariadna; Clemente Leon, Maria; Coma Munoz, Ana; Guillen Burrieza, Gabriela; Iglesias Felip, Carmela; Planes-Conangla, Marina; Sabado Alvarez, Constantino; Vega Amenabar, Elizabeth; Yeste Fernandez, Diego et al.
DOI: 10.1016/j.endien.2020.11.006

Seventy eight children born small for gestational age without catch-up growth treated with growth hormone from the prepubertal stage until adult height age. An evaluation of puberty and changes in the metabolic profile.

PMID: 34906341
Journal: Endocrinologia Diabetes y Nutricion
Year: 2021
Reference: Endocrinol Diabetes Nutr (Engl Ed). 2021 Nov;68(9):612-620. doi: 10.1016/j.endien.2021.11.024.
Impact factor:
Publication type: Paper in international publication
Authors: Campos-Martorell, Ariadna; Carrascosa Lezcano, Antonio; Clemente Leon, Maria; Fabregas Martori, Anna; Fernandez-Cancio, Monica; Mogas Vinals, Eduard; Yeste Fernandez, Diego et al.
DOI: 10.1016/j.endien.2021.11.024

Dupilumab in Children with Uncontrolled Moderate-to-Severe Asthma.

PMID: 34879449
Journal: NEW ENGLAND JOURNAL OF MEDICINE
Year: 2021
Reference: N Engl J Med. 2021 Dec 9;385(24):2230-2240. doi: 10.1056/NEJMoa2106567.
Impact factor:
Publication type: Paper in international publication
Authors: Aguero, Luis Gustavo; Amin, Nikhil; Antila, Martti; Bacharier, Leonard; Bacharier, Leonard B; Bakirtas, Arzu; Bauer, Zita; Begin, Philippe; Berezna, Tamara; Bergna, Miguel et al.
DOI: 10.1056/NEJMoa2106567

Updated guidance on the management of children with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome/cystic fibrosis screen positive, inconclusive diagnosis (CRMS/CFSPID).

PMID: 33257262
Journal: Journal of Cystic Fibrosis
Year: 2021
Reference: J Cyst Fibros. 2021 Sep;20(5):810-819. doi: 10.1016/j.jcf.2020.11.006. Epub 2020 Nov 27.
Impact factor:
Publication type: Paper in international publication
Authors: Barben, Jurg; Castellani, Carlo; Davies, Jane C; deWinter, Karin; Gartner, Silvia; Kashirskaya, Nataliya; Linnane, Barry; Mayell, Sarah J; McColley, Susanna; Munck, Anne et al.
DOI: 10.1016/j.jcf.2020.11.006

Reply to "Short-term antibiotic regimens in community-acquired pneumonia in children".

PMID: 33127201
Journal: ARCHIVOS DE BRONCONEUMOLOGIA
Year: 2020
Reference: Arch Bronconeumol. 2020 Dec;56(12):836. doi: 10.1016/j.arbres.2020.09.011. Epub 2020 Oct 1.
Impact factor:
Publication type: Editorial in national publication
Authors: Andres-Martin, Anselmo; Escribano-Montaner, Amparo; Figuerola-Mulet, Joan; Garcia-Garcia, Maria Luz; Korta-Murua, Javier; Moreno-Galdo, Antonio; Moreno-Perez, David; Rodrigo-Gonzalo de Liria, Carlos et al.
DOI: 10.1016/j.arbres.2020.09.011

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:
Publication type: Paper in international publication
Authors: Arias, Alexandra; Caratu, Ginevra; Diaz-Navarro, Ander; Escudero, Laura; Gallego, Soledad; Gros, Luis; Hladun, Raquel; Lesende-Rodriguez, Ivan; Llort, Anna; Martinez-Ricarte, Francisco et al.
DOI: 10.1038/s41467-020-19175-0

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:
Publication type: Paper in international publication
Authors: Alviani, Cherry; Angier, Elizabeth; Blumchen, Katharina; Comberiati, Pasquale; Duca, Bettina; DunnGalvin, Audrey; Garriga-Baraut, Teresa; Gore, Claudia; Gowland, M Hazel; Hox, Valerie et al.
DOI: 10.1186/s13601-020-00340-z

Access to medicines for rare diseases: beating the drum for primary ciliary dyskinesia.

PMID: 32964005
Journal: ERJ open research
Year: 2020
Reference: ERJ Open Res. 2020 Sep 14;6(3). pii: 00377-2020. doi: 10.1183/23120541.00377-2020. eCollection 2020 Jul.
Impact factor:
Publication type: Editorail in international publication
Authors: Azevedo, Ines; Boon, Mieke; Bush, Andrew; Crowley, Suzanne; Eber, Ernst; Haarman, Eric; Karadag, Bulent; Kotz, Karsten; Kuehni, Claudia E; Leigh, Margaret et al.
DOI: 10.1183/23120541.00377-2020

Negative autoimmunity in a Spanish pediatric cohort suspected of type 1 diabetes, could it be monogenic diabetes?

PMID: 31365591
Journal: PLoS One
Year: 2019
Reference: PLoS One. 2019 Jul 31;14(7):e0220634. doi: 10.1371/journal.pone.0220634. eCollection 2019.
Impact factor:
Publication type: Paper in international publication
Authors: Aguayo, Anibal; Calvo, Begona; Campos Martorell, Ariadna; Castano, Luis; Clemente Leon, Maria; Garcia-Castano, Alejandro; Martinez de LaPiscina, Idoia; Martinez, Rosa; Rica, Itxaso; Spanish Pediat Diabet Collaborativ et al.
DOI: 10.1371/journal.pone.0220634

Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease.

PMID: 31555317
Journal: Frontiers in Genetics
Year: 2019
Reference: Front Genet. 2019 Aug 29;10:746. doi: 10.3389/fgene.2019.00746. eCollection 2019.
Impact factor:
Publication type: Paper in international publication
Authors: Audi, Laura; Camats, Nuria; Castano, Luis; Esteva, Isabel; Fernandez-Cancio, Monica; Fluck, Christa E; Martinez de LaPiscina, Idoia; Sauter, Kay-Sara et al.
DOI: 10.3389/fgene.2019.00746

Multicenter prospective clinical study to evaluate children short-term neurodevelopmental outcome in congenital heart disease (children NEURO-HEART): study protocol.

PMID: 31506079
Journal: BMC Pediatrics
Year: 2019
Reference: BMC Pediatr. 2019 Sep 10;19(1):326. doi: 10.1186/s12887-019-1689-y.
Impact factor:
Publication type: Paper in international publication
Authors: Antolin, E; Arevalo, S; Bartha, J M; Boix, H; Cabero, L; Carreras, E; Comas, M; Crispi, F; Cruz-Lemini, M; Dolader, P et al.
DOI: 10.1186/s12887-019-1689-y

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:
Publication type: Paper in international publication
Authors: Bermudez de la Vega, Jose Antonio; Chueca Guindulain, Maria; Corripio Collado, Raquel; Diez Lopez, Ignacio; Fernandez Gonzalez, Ana; Perez Sanchez, Jacobo; Ramirez Fernandez, Joaquin; Rodriguez Arnao, Maria Dolores; Rodriguez Sanchez, Amparo; Yeste Fernandez, Diego et al.
DOI: 10.1530/EC-19-0325

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:
Publication type: Paper in international publication
Authors: Blasco-Valero, C; Garriga-Baraut, T; Gonzalez-Medina, M; Martin-Begue, N; Vila-Indurain, B et al.
DOI: 10.18176/jiaci.0282

Management of Gonads in Adults with Androgen Insensitivity: An International Survey.

PMID: 30336477
Journal: Hormone Research in Paediatrics
Year: 2018
Reference: Horm Res Paediatr. 2018;90(4):236-246. doi: 10.1159/000493645. Epub 2018 Oct 18.
Impact factor:
Publication type: Paper in international publication
Authors: Ahmed, S Faisal; Audi, Laura; Balsamo, Antonio; Cools, Martine; Davies, Justin H; Ellaithi, Mona; Evliyaoglu, Olcay; Fluck, Christa E; Hannema, Sabine E; Holterhus, Paul-Martin et al.
DOI: 10.1159/000493645

GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 'DSDnet'

PMID: 30299888
Journal: EUROPEAN JOURNAL OF ENDOCRINOLOGY
Year: 2018
Reference: Eur J Endocrinol. 2018 Oct 1;179(4):R197-R206. doi: 10.1530/EJE-18-0256.
Impact factor:
Publication type: Paper in international publication
Authors: Ahmed, S F; Audi, L; Bashamboo, A; Cools, M; Greenfield, A; Hiort, O; Holterhus, P M; Krone, N; McElreavey, K; McGowan, R et al.
DOI: 10.1530/EJE-18-0256

[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:
Publication type: Paper in national publication
Authors: Audi Parera, Laura; Azcona San Julian, Cristina; Barreiro Conde, Jesus; Bermudez de la Vega, Jose Antonio; Carcavilla Urqui, Atilano; Castano Gonzalez, Luis Antonio; Guerrero-Fernandez, Julio; Martinez Martinez, Leopoldo; Martinez-Urrutia, Maria Jose; Martos Tello, Jose Maria et al.
DOI: 10.1016/j.anpedi.2018.06.009

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:
Publication type: Paper in international publication
Authors: Ahmed, Alaa Youssef; Amr, Nermine Hussein; Audi, Laura; El Kholy, Mohamed; Elsedfy, Heba; Fernandez-Cancio, Monica; Hamza, Rasha Tarif; Toaima, Nadin Nabil et al.
DOI: 10.1038/pr.2016.222

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:
Publication type: Paper in international publication
Authors: Barreiro, J; Battelino, Tadej; Beauloye, V; De Schepper, Jean; Ekstrom, K; Eliakim, A; Frohlich-Reiterer, E; Furthner, D; Glosli, H; Gucev, Zoran et al.
DOI: 10.1111/cen.13409

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:
Publication type: Paper in international publication
Authors: Carrascosa, Antonio; Comas, Immaculada; Deya-Martinez, Angela; Espiau, Maria; Ferrer, Roser; Figueras, Concepcio; Fortunyc, Claudi; Martin-Nalda, Andrea; Noguera-Julian, Antoni; Soler-Palacin, Pere 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:
Publication type: Paper in international publication
Authors: Casellas, Manel; Castillo, Felix; Gamez, Josep; Manrique, Susana; Salvado, Maria et al.
DOI: 10.1016/j.jns.2017.10.037

Non-Virilizing Congenital Adrenal Hyperplasia in a Female Patient with a Novel HSD3B2 Mutation.

PMID: 27626911
Journal: Sexual Development
Year: 2016
Reference: Sex Dev. 2016;10(4):200-204. Epub 2016 Sep 15.
Impact factor:
Publication type: Paper in international publication
Authors: Camats, Nuria; Fluck, Christa E; l'Allemand, Dagmar; Probst-Scheidegger, Ursina; Udhane, Sameer S et al.
DOI: 10.1159/000448724

Pulmonary Arterial Hypertension and Neonatal Arterial Switch Surgery for Correction of Transposition of the Great Arteries.

PMID: 27156642
Journal: Revista espanola de cardiologia (English ed.)
Year: 2016
Reference: Rev Esp Cardiol (Engl Ed). 2016 Sep;69(9):836-41. doi: 10.1016/j.rec.2016.03.006. Epub 2016 May 4.
Impact factor:
Publication type: Paper in national publication
Authors: Dominguez Manzano, Paula; Galindo Izquierdo, Alberto; Mendoza Soto, Alberto; Moreno Galdo, Antonio; Roman Barba, Violeta et al.
DOI: 10.1016/j.rec.2016.03.006

[Surfactant doses: From words to action].

PMID: 26980470
Journal: ANALES DE PEDIATRIA
Year: 2016
Reference: An Pediatr (Barc). 2016 Jul;85(1):55-6. doi: 10.1016/j.anpedi.2016.02.001. Epub 2016 Mar 12.
Impact factor:
Publication type: Letter or abstract
Authors: Boix, Hector; Castillo, Felix; Fernandez, Cristina et al.
DOI: 10.1016/j.anpedi.2016.02.001

["Warning! Oxygen is just makeup". Author's reply].

PMID: 26826759
Journal: ANALES DE PEDIATRIA
Year: 2016
Reference: An Pediatr (Barc). 2016 Jun;84(6):353-4. doi: 10.1016/j.anpedi.2015.12.012. Epub 2016 Jan 27.
Impact factor:
Publication type: Letter or abstract
Authors: Andres Martin, Anselmo; Moreno-Galdo, Antonio; Moreno-Perez, David; Tagarro Garcia, Alfredo et al.
DOI: 10.1016/j.anpedi.2015.12.012

[Measurement of CO diffusion capacity (II): Standardization and quality criteria].

PMID: 25488028
Journal: AN PEDIATR
Year: 2015
Reference: An Pediatr (Barc). 2015 Aug;83(2):137.e1-7. doi: 10.1016/j.anpedi.2014.10.027. Epub 2014 Dec 6.
Impact factor:
Publication type: Paper in national publication
Authors: de Mir Messa, I; Larramona, H; Salcedo Posadas, A; Sardon Prado, O; Villa Asensi, J R et al.
DOI: 10.1016/j.anpedi.2014.10.027

[Body plethysmography (I): Standardisation and quality criteria].

PMID: 25797588
Journal: AN PEDIATR
Year: 2015
Reference: An Pediatr (Barc). 2015 Aug;83(2):136.e1-7. doi: 10.1016/j.anpedi.2014.10.029. Epub 2015 Mar 18.
Impact factor:
Publication type: Clinical guide
Authors: de Mir Messa, I; Larramona, H; Salcedo Posadas, A; Sardon Prado, O; Villa Asensi, J R et al.
DOI: 10.1016/j.anpedi.2014.10.029

National and regional asthma programmes in Europe.

PMID: 26324809
Journal: European respiratory review : an official journal
Year: 2015
Reference: Eur Respir Rev. 2015 Sep;24(137):474-83. doi: 10.1183/16000617.00008114.
Impact factor:
Publication type: Review in international publication
Authors: Bousquet, Jean; Brennan, David; Contreras, Javier; FitzGerald, Mark; Haahtela, Tari; Hedlin, Gunilla; Johnston, Sebastian L; Kuna, Piotr; Kupczyk, Maciej; Lacwik, Piotr et al.
DOI: 10.1183/16000617.00008114

[Community acquired pneumonia in children: Treatment of complicated cases and risk patients. Consensus statement by the Spanish Society of Paediatric Infectious Diseases (SEIP) and the Spanish Society of Paediatric Chest Diseases (SENP)].

PMID: 25617977
Journal: AN PEDIATR
Year: 2015
Reference: An Pediatr (Barc). 2015 Sep;83(3):217.e1-11. doi: 10.1016/j.anpedi.2014.12.002. Epub 2015 Jan 22.
Impact factor:
Publication type: Paper in national publication
Authors: Andres Martin, A; Escribano Montaner, A; Figuerola Mulet, J; Garcia Garcia, J J; Moreno-Galdo, A; Moreno-Perez, D; Rodrigo Gonzalo de Lliria, C; Saavedra Lozano, J; Tagarro Garcia, A et al.
DOI: 10.1016/j.anpedi.2014.12.002

Novel associations in disorders of sex development: findings from the I-DSD Registry.

PMID: 24302751
Journal: JOURNAL OF CLINICAL EPIDEMIOLOGY
Year: 2014
Reference: J Clin Endocrinol Metab. 2014 Feb;99(2):E348-55. doi: 10.1210/jc.2013-2918. Epub 2013 Dec 3.
Impact factor:
Publication type: Letter or abstract
Authors: Ahmed, S Faisal; Alkhawari, Mona; Arlt, Wiebke; Audi, Laura; Balsamo, Antonio; Bertelloni, Silvano; Bryce, Jillian; Cools, Martine; Cox, Kathryn; Darendeliler, Feyza et al.
DOI: 10.1210/jc.2013-2918

Promoter-Dependent Activity on Androgen Receptor N-Terminal Domain Mutations in Androgen Insensitivity Syndrome.

PMID: 25500996
Journal: Sexual Development
Year: 2014
Reference: Sex Dev. 2014;8(6):339-49. doi: 10.1159/000369266. Epub 2014 Dec 6.
Impact factor:
Publication type: Paper in international publication
Authors: Audi, Laura; Brown, Rosalind S; Bunch, Trevor; Davies, John; Hughes, Ieuan A; McEwan, Iain J; Mongan, Nigel P; Tadokoro-Cuccaro, Rieko; Watt, Kate et al.
DOI: 10.1159/000369266

Urokinase Versus VATS for Treatment of Empyema: A Randomized Multicenter Clinical Trial.

PMID: 25349313
Journal: PEDIATRICS
Year: 2014
Reference: Pediatrics. 2014 Nov;134(5):e1301-7. doi: 10.1542/peds.2013-3935.
Impact factor:
Publication type: Clinical Trials
Authors: Alvarez, Victor; Barcelo, Concepcio; Cano, Indalecio; Fuentes, Inmaculada; Garcia-Casillas, Maria A; Guillen, Gabriela; Hernandez, Francisco; Lopez, Maria; Marhuenda, Claudia; Matute, Jose A et al.
DOI: 10.1542/peds.2013-3935

Recommendations for the radiological diagnosis and follow-up of neuropathological abnormalities associated with tuberous sclerosis complex.

PMID: 24771286
Journal: JOURNAL OF NEURO-ONCOLOGY
Year: 2014
Reference: J Neurooncol. 2014 Jun;118(2):205-23. doi: 10.1007/s11060-014-1429-y. Epub 2014 Apr 27.
Impact factor:
Publication type: Paper in international publication
Authors: Garcia-Esparza, Elena; Lopez-Laso, Eduardo; Macaya, Alfons; Malaga, Ignacio; Rovira, Alex; Ruiz-Falco, Maria Luz; Vazquez, Elida; Vicente, Josefina et al.
DOI: 10.1007/s11060-014-1429-y

Endocrine profile and phenotype-(epi)genotype correlation in Spanish patients with pseudohypoparathyroidism.

PMID: 23533243
Journal: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Year: 2013
Reference: J Clin Endocrinol Metab. 2013 May;98(5):E996-1006. doi: 10.1210/jc.2012-4164. Epub 2013 Mar 26.
Impact factor:
Publication type: Paper in international publication
Authors: Aguirre, M; Alvarez, C; Anda, E; Argente, J; Armenta, D; Arroyo, J; Audi, L; Azriel, S; Barrio, R; Beneyto, M et al.
DOI: 10.1210/jc.2012-4164

Personalized approach to growth hormone treatment: clinical use of growth prediction models.

PMID: 23735882
Journal: Hormone Research in Paediatrics
Year: 2013
Reference: Horm Res Paediatr. 2013;79(5):257-70. doi: 10.1159/000351025. Epub 2013 May 28.
Impact factor:
Publication type: Paper in international publication
Authors: Albertsson-Wikland, K; Audi, L; Bang, P; Blum, W F; Carrascosa, A; Cianfarani, S; Clayton, P E; Cohen, P; Dahlgren, J; de Graaff, L et al.
DOI: 10.1159/000351025

Quantification of major urinary metabolites of PGE2 and PGD2 in cystic fibrosis: correlation with disease severity.

PMID: 23791427
Journal: PROSTAGLANDINS LEUKOTRIENES AND ESSENTIAL FATTY ACIDS
Year: 2013
Reference: Prostaglandins Leukot Essent Fatty Acids. 2013 Aug;89(2-3):121-6. doi: 10.1016/j.plefa.2013.06.001. Epub 2013 Jun 20.
Impact factor:
Publication type: Paper in international publication
Authors: Casas, Josefina; Gartner, Silvia; Gelpi, Emilio; Jabr, Suha; Milne, Ginger L; Moreno, Antonio; Picado, Cesar; Roca-Ferrer, Jordi et al.
DOI: 10.1016/j.plefa.2013.06.001

Height Gain at Adult-Height Age in 184 Short Patients Treated with Growth Hormone from Prepubertal Age to Near Adult-Height Age is Not Related to GH Secretory Status at GH Therapy Onset.

PMID: 23548791
Journal: Hormone Research in Paediatrics
Year: 2013
Reference: Horm Res Paediatr. 2013;79:145-56. doi: 10.1159/000348540. Epub 2013 Mar 28.
Impact factor:
Publication type: Paper in international publication
Authors: Albisu, M A; Audi, L; Bel, J; Campos, A; Carrascosa, A; Clemente, M; Del Pozo, C; Fernandez-Cancio, M; Gomez, J M; Gussinye, M et al.
DOI: 10.1159/000348540

Contribution of rare copy number variants to isolated human malformations.

PMID: 23056206
Journal: PLoS One
Year: 2012
Reference: PLoS One. 2012;7(10):e45530. doi: 10.1371/journal.pone.0045530. Epub 2012 Oct 3.
Impact factor:
Publication type: Paper in international publication
Authors: Camats, Nuria; Cusco, Ivon; Perez-Jurado, Luis A; Rodriguez-Santiago, Benjamin; Serra-Juhe, Clara; Toran, Nuria; Vendrell, Teresa et al.
DOI: 10.1371/journal.pone.0045530

[Clinical variability of polymicrogiria: report of 35 new cases and review of the literature].

PMID: 22972573
Journal: REVISTA DE NEUROLOGIA
Year: 2012
Reference: Rev Neurol. 2012 Sep 16;55(6):321-9.
Impact factor:
Publication type: Letter or abstract
Authors: Boronat-Guerrero, S; Del Toro-Riera, M; Flotats-Bastardas, M; Macaya-Ruiz, A; Munell, F; Ortega-Aznar, A; Raspall-Chaure, M; Roig-Quilis, M; Sanchez-Montanez, A; Vazquez-Mendez, E et al.
DOI:

Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus.

PMID: 22492776
Journal: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Year: 2012
Reference: J Clin Endocrinol Metab. 2012 Jun;97(6):E1060-7. Epub 2012 Apr 4.
Impact factor:
Publication type: Paper in international publication
Authors: Aguirre, M; Alvarez, C; Anda, E; Argente, J; Armenta, D; Arroyo, J; Audi, L; Azriel, S; Barrio, R; Beneyto, M et al.
DOI: 10.1210/jc.2012-1081

Co-factor-enhanced food allergy.

PMID: 22845005
Journal: ALLERGY
Year: 2012
Reference: Allergy. 2012 Oct;67(10):1316-8. doi: 10.1111/j.1398-9995.2012.02877.x.. Epub 2012 Jul 30.
Impact factor:
Publication type: Paper in international publication
Authors: Cardona, V; Garriga, T; Guilarte, M; Izquierdo, A; Labrador-Horrillo, M; Luengo, O; Sala-Cunill, A; Soto, L et al.
DOI: 10.1111/j.1398-9995.2012.02877.x.

Reliability and validity of the Spanish version of the TAPQOL: A health-related quality of life (HRQOL) instrument for 1- to 5-year-old children.

PMID: 20951379
Journal: INTERNATIONAL JOURNAL OF NURSING STUDIES
Year: 2011
Reference: Int J Nurs Stud. 2011 May;48(5):549-56. Epub 2010 Oct 15.
Impact factor:
Publication type: Paper in international publication
Authors: ; ; ; ; ; ; ; ; ; et al.
DOI: 10.1016/j.ijnurstu.2010.09.004

Bilateral lung transplantation for pediatric idiopathic pulmonary arterial hypertension: a multi-center experience.

PMID: 21634032
Journal: PEDIATRIC PULMONOLOGY
Year: 2011
Reference: Pediatr Pulmonol. 2011 Nov;46(11):1121-7. doi: 10.1002/ppul.21484. Epub 2011 Jun 1.
Impact factor:
Publication type: Paper in international publication
Authors: Benden, C; Boehler, A; Boyer, D; Conrad, C; Faro, A; Frischer, T; Lammers, A E; Moreno-Galdo, A; Parakininkas, D; Schaellibaum, G et al.
DOI: 10.1002/ppul.21484

[Lung transplantation in children: challenges and realities].

PMID: 21624776
Journal: ANALES DE PEDIATRIA
Year: 2011
Reference: An Pediatr (Barc). 2011 Jun;74(6):353-5.
Impact factor:
Publication type: Paper in national publication
Authors: Moreno Galdo, Antonio; Torrent Vernetta, Alba et al.
DOI: 10.1016/j.anpedi.2011.03.029

[Pediatric bronchoscopy guidelines].

PMID: 21600686
Journal: ARCHIVOS DE BRONCONEUMOLOGIA
Year: 2011
Reference: Arch Bronconeumol. 2011 Jul;47(7):350-60. Epub 2011 May 19.
Impact factor:
Publication type: Letter or abstract
Authors: Barrio Gomez De Aguero, Maria Isabel; Caro Aguilera, Pilar; Escribano Montaner, Amparo; Moreno Galdo, Antonio; Perez Ruiz, Estela; Perez-Frias, Javier et al.
DOI: 10.1016/j.arbres.2011.04.003

Results of the oral egg-challenge test performed on two different groups of children. One group with a history, suggestive of allergic reaction with egg intake and the other group sensitised to hen's egg without previous egg intake.

PMID: 20619526
Journal: ALLERGOLOGIA ET IMMUNOPATHOLOGIA
Year: 2010
Reference: Allergol Immunopathol (Madr). 2010 Sep-Oct;38(5):233-40. Epub 2010 Jul 8.
Impact factor:
Publication type: Paper in national publication
Authors: Asin, J L Eseverri; Baraut, T Garriga; Conde, S L Romero; Fadeeva, T; Hontoria, O Esteso; Horrillo, M Labrador; Molina, A M Marin; Valero, C Blasco; Vela, R F Ocana et al.
DOI: 10.1016/j.aller.2010.01.004

[Mycotic aneurysm of infrarenal abdominal aorta due to Coxiella burnetii].

PMID: 19573882
Journal: MEDICINA CLINICA
Year: 2010
Reference: Med Clin (Barc). 2010 Jul 3;135(4):187-8. Epub 2009 Jul 2.
Impact factor:
Publication type: Letter or abstract
Authors: Arderiu, Assumpta; Garriga, Teresa; Juste, Concepcion; Santos, Carlos et al.
DOI: 10.1016/j.medcli.2009.05.005

Glycogen storage disease type III with hypoketosis.

PMID: 21073127
Journal: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
Year: 2010
Reference: J Pediatr Endocrinol Metab. 2010 Aug;23(8):833-6.
Impact factor:
Publication type: Paper in international publication
Authors: Albisu, Marian; Arranz, Jose Antonio; Carrascosa, Antonio; Clemente, Maria; Gussinyer, Miquel; Riudor, Encarnacio; Yeste, Diego et al.
DOI:

Gender-Associated Differences of Perforin Polymorphisms in the Susceptibility to Multiple Sclerosis.

PMID: 20921521
Journal: JOURNAL OF IMMUNOLOGY
Year: 2010
Reference: J Immunol. 2010 Nov 1;185(9):5392-404. Epub 2010 Oct 4.
Impact factor:
Publication type: Paper in international publication
Authors: ; ; ; ; ; ; ; ; ; et al.
DOI: 10.4049/jimmunol.1000102

[Intracranial hypertension associated with cerebral venous sinus thrombosis and mastoiditis. Two paediatric case reports]

PMID: 19859877
Journal: REVISTA DE NEUROLOGIA
Year: 2009
Reference: Rev Neurol. 2009 Nov 16-30;49(10):529-32.
Impact factor:
Publication type: Paper in national publication
Authors: Boronat-Guerrero, S; del Toro-Riera, M; Roig-Quilis, M; Vazquez-Mendez, E; Velasco-Puyo, P et al.
DOI:

Treatment for 24 months with recombinant human GH has a beneficial effect on bone mineral density in young adults with childhood-onset GH deficiency.

PMID: 19324976
Journal: EUROPEAN JOURNAL OF ENDOCRINOLOGY
Year: 2009
Reference: Eur J Endocrinol. 2009 Jun;160(6):899-907.
Impact factor:
Publication type: Paper in international publication
Authors: Ahmed, Faisel; Bachmann, Sara; Barg, Ewa; Birkholtz, Dorota; Bollerslev, Jens; Brue, Thierry; Cameron, Fergus; Carrascosa, Antonio; Chanson, P; Chanson, Phillipe et al.
DOI: 10.1530/EJE-08-0436

[Current treatment of pediatric penetrating traumas]

PMID: 20405653
Journal: Cir Pediatr
Year: 2009
Reference: Cir Pediatr. 2009 Oct;22(4):193-6.
Impact factor:
Publication type: Letter or abstract
Authors: Barcelo, C; Guillen, G; Lloret, J; Marhuenda, C; Martinez Ibanez, V; Molino, J A; Moreno, A et al.
DOI:

Congenital tumours involving the head, neck and central nervous system.

PMID: 19774372
Journal: PEDIATRIC RADIOLOGY
Year: 2009
Reference: Pediatr Radiol. 2009 Nov;39(11):1158-72. Epub 2009 Sep 23.
Impact factor:
Publication type: Paper in international publication
Authors: Carreras, Elena; Castellote, Amparo; Enriquez, Goya; Mayolas, Nuria; Peiro, Jose Luis; Vazquez, Elida et al.
DOI: 10.1007/s00247-009-1369-4

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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.