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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

Thyroid function in < 32 weeks gestation preterm infants.

PMID: 35131224
Journal: ANALES DE PEDIATRIA
Year: 2022
Reference: An Pediatr (Engl Ed). 2022 Feb;96(2):130-137. doi: 10.1016/j.anpede.2020.10.017. Epub 2022 Feb 4.
Impact factor: 1.5
Publication type: Paper in international publication
Authors: Castillo-Salinas, Felix; Clemente-Leon, Maria; Montaner-Ramon, Alicia; Hernandez-Perez, Susana; Campos-Martorell, Ariadna; Ballesta-Anguiano, Marta et al.
DOI: 10.1016/j.anpede.2020.10.017

Non-invasive mechanical ventilation in Spanish neonatal units.

PMID: 35786540
Journal: ANALES DE PEDIATRIA
Year: 2022
Reference: An Pediatr (Engl Ed). 2022 Jun 30. pii: S2341-2879(22)00141-7. doi: 10.1016/j.anpede.2021.08.009.
Impact factor: 1.5
Publication type: Letter whit IF
Authors: Castillo Salinas, Felix; Camba Longueira, Fatima; Montaner Ramon, Alicia; Comunas Gomez, Juan Jose; Fernandez Garcia, Cristina et al.
DOI: 10.1016/j.anpede.2021.08.009

Analysis of therapy monitoring in the International Congenital Adrenal Hyperplasia Registry.

PMID: 35781728
Journal: CLINICAL ENDOCRINOLOGY
Year: 2022
Reference: Clin Endocrinol (Oxf). 2022 Jul 3. doi: 10.1111/cen.14796.
Impact factor: 3.478
Publication type: Paper in international publication
Authors: Bonfig, Walter; Birkebaek, Niels Holtum; Baronio, Federico; Bachega, Tania Aparecida Sartori Sanchez; van den Akker, Erica Lt; Ali, Salma Rashid; Bryce, Jillian; Dawson, Jeremy; Bacila, Irina; Lawrence, Neil et al.
DOI: 10.1111/cen.14796

A New MAMLD1 Variant in an Infant With Microphallus and Hypospadias With Hormonal Pattern Suggesting Partial Hypogonadotropic Hypogonadism-Case Report.

PMID: 35837313
Journal: Frontiers in Endocrinology
Year: 2022
Reference: Front Endocrinol (Lausanne). 2022 Jun 28;13:884107. doi: 10.3389/fendo.2022.884107. eCollection 2022.
Impact factor: 5.555
Publication type: Letter or abstract
Authors: Camats-Tarruella, Nuria, Clemente, Maria, Fernandez-Alvarez, Paula, Canestrino, Gennaro, Aguilar-Riera, Cristina, Yeste, Diego et al.
DOI: 10.3389/fendo.2022.884107

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: 34127440
Journal: Endocrinologia Diabetes y Nutricion
Year: 2021
Reference: Endocrinol Diabetes Nutr (Engl Ed). 2021 Jun 11. pii: S2530-0164(21)00111-7. doi: 10.1016/j.endinu.2021.01.009.
Impact factor: 1.417
Publication type: Paper in national publication
Authors: Campos-Martorell, Ariadna, Fernandez-Cancio, Monica, Clemente Leon, Maria, Mogas Vinals, Eduard, Fabregas Martori, Anna, Carrascosa Lezcano, Antonio, Yeste Fernandez, Diego et al.
DOI: 10.1016/j.endinu.2021.01.009

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: 1.417
Publication type: Paper in international publication
Authors: Yeste Fernandez, Diego, Vega Amenabar, Elizabeth, Coma Munoz, Ana, Arciniegas Vallejo, Larry, Clemente Leon, Maria, Planes-Conangla, Marina, Iglesias Felip, Carmela, Sabado Alvarez, Constantino, Guillen Burrieza, Gabriela, Campos-Martorell, Ariadna 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: 1.417
Publication type: Paper in international publication
Authors: Campos-Martorell, Ariadna, Fernandez-Cancio, Monica, Clemente Leon, Maria, Mogas Vinals, Eduard, Fabregas Martori, Anna, Carrascosa Lezcano, Antonio, Yeste Fernandez, Diego et al.
DOI: 10.1016/j.endien.2021.11.024

[Non-invasive mechanical ventilation in Spanish neonatal units<].

PMID: 34556440
Journal: ANALES DE PEDIATRIA
Year: 2021
Reference: An Pediatr (Engl Ed). 2021 Sep 20. pii: S1695-4033(21)00256-3. doi: 10.1016/j.anpedi.2021.08.007.
Impact factor: 1.5
Publication type: Letter whit IF
Authors: Fernandez Garcia, Cristina, Comunas Gomez, Juan Jose, Montaner Ramon, Alicia, Camba Longueira, Fatima, Castillo Salinas, Felix et al.
DOI: 10.1016/j.anpedi.2021.08.007

Impact of SARS-CoV-2 infection in patients with cystic fibrosis in Spain: Incidence and results of the national CF-COVID19-Spain survey.

PMID: 32843180
Journal: RESPIRATORY MEDICINE
Year: 2020
Reference: Respir Med. 2020 Aug - Sep;170:106062. doi: 10.1016/j.rmed.2020.106062. Epub 2020 Jun 8.
Impact factor: 3.095
Publication type: Paper in international publication
Authors: Gomez-Bonilla, Ainhoa, Diab-Caceres, Layla, Prados-Sanchez, Concepcion, Alvarez-Fernandez, Antonio, Garcia-Marcos, Patricia W, Penalver-Mellado, Carlos, Pastor-Vivero, M Dolores, Olveira, Casilda, Lopez-Neyra, Alejandro, Castillo-Corullon, Silvia et al.
DOI: 10.1016/j.rmed.2020.106062

Thirdhand smoke and other challenges of tobacco control in the pediatric population.

PMID: 32682725
Journal: ANALES DE PEDIATRIA
Year: 2020
Reference: An Pediatr (Barc). 2020 Nov;93(5):279-281. doi: 10.1016/j.anpedi.2020.05.005. Epub 2020 Jul 16.
Impact factor: 1.313
Publication type: Editorial in national publication
Authors: Lidon-Moyano, Cristina, Diez-Izquierdo, Ana, Martinez-Sanchez, Jose M et al.
DOI: 10.1016/j.anpedi.2020.05.005

A Genomewide Pharmacogenetic Study of Growth Hormone Responsiveness.

PMID: 32652002
Journal: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Year: 2020
Reference: J Clin Endocrinol Metab. 2020 Oct 1;105(10). pii: 5870346. doi: 10.1210/clinem/dgaa443.
Impact factor: 5.399
Publication type: Paper in international publication
Authors: Carrascosa, Antonio, Albertsson-Wikland, Kerstin, Ranke, Michael B, Jorge, Alexander A L, Cara, Jose, Wajnrajch, Michael P, Lindberg, Anders, Camacho-Hubner, Cecilia, Hirschhorn, Joel N, Weaver, Benjamin et al.
DOI: 10.1210/clinem/dgaa443

EAACI Guideline on the effective transition of adolescents and young adults with allergy and asthma.

PMID: 32558994
Journal: ALLERGY
Year: 2020
Reference: Allergy. 2020 Nov;75(11):2734-2752. doi: 10.1111/all.14459. Epub 2020 Jul 21.
Impact factor: 8.706
Publication type: Paper in international publication
Authors: Sanchez-Garcia, Silvia, Timmermans, Frans, Santos, Alexandra F, Pite, Helena, Mortz, Charlotte G, Roberts, Graham, Vazquez-Ortiz, Marta, Knibb, Rebecca, Khaleva, Ekaterina, Alviani, Cherry et al.
DOI: 10.1111/all.14459

The effect of PTC mutations on CFTR mRNA abundance in human nasal epithelium and intestinal organoids: A basis for read-through therapies in Cystic Fibrosis.

PMID: 30488522
Journal: HUMAN MUTATION
Year: 2019
Reference: Hum Mutat. 2019 Mar;40(3):326-334. doi: 10.1002/humu.23692. Epub 2018 Dec 10.
Impact factor: 4.453
Publication type: Paper in international publication
Authors: Clarke, Luka A, Awatade, Nikhil T, Felicio, Veronica M, Silva, Iris A, Calucho, Maite, Pereira, Luisa, Azevedo, Pilar, Cavaco, Jose, Barreto, Celeste, Bertuzzo, Carmen et al.
DOI: 10.1002/humu.23692

Egg Oral Immunotherapy in Children (SEICAP I). Daily or Weekly Desensitization Pattern.

PMID: 30169915
Journal: PEDIATRIC ALLERGY AND IMMUNOLOGY
Year: 2019
Reference: Pediatr Allergy Immunol. 2019 Feb;30(1):81-92. doi: 10.1111/pai.12974. Epub 2018 Nov 21.
Impact factor: 4.654
Publication type: Paper in international publication
Authors: Martorell, Antonio, Martin-Munoz, Maria Flora, Belver, Maria Teresa, Alonso, Elena, Zapatero, Lidia, Fuentes, Victoria, Pique, Monica, Plaza, Ana Maria, Munoz, Candelaria, Martorell, Cristina et al.
DOI: 10.1111/pai.12974

Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood.

PMID: 30642748
Journal: MOLECULAR GENETICS AND METABOLISM
Year: 2019
Reference: Mol Genet Metab. 2019 Mar;126(3):250-258. doi: 10.1016/j.ymgme.2019.01.001. Epub 2019 Jan 5.
Impact factor: 3.61
Publication type: Paper in international publication
Authors: Baide-Mairena, Heidy, Gaudo, Paula, Marti-Sanchez, Laura, Emperador, Sonia, Sanchez-Montanez, Angel, Alonso-Luengo, Olga, Correa, Marta, Grau, Anna Marce, Artuch, Rafael, Vazquez, Elida et al.
DOI: 10.1016/j.ymgme.2019.01.001

Safety outcomes during pediatric GH therapy: final results from the prospective GeNeSIS observational program.

PMID: 30219920
Journal: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
Year: 2019
Reference: J Clin Endocrinol Metab. 2019 Feb 1;104(2):379-389. doi: 10.1210/jc.2018-01189.
Impact factor: 5.605
Publication type: Paper in international publication
Authors: Blum, Werner F, Child, Christopher J, Zimmermann, Alan G, Chrousos, George P, Cummings, Elisabeth, Deal, Cheri L, Hasegawa, Tomonobu, Jia, Nan, Lawrence, Sarah, Linglart, Agnes et al.
DOI: 10.1210/jc.2018-01189

Authors' response to correspondence for EPI-STREP-064 publication.

PMID: 29948258
Journal: EUROPEAN JOURNAL OF PEDIATRICS
Year: 2018
Reference: Eur J Pediatr. 2018 Sep;177(9):1411-1412. doi: 10.1007/s00431-018-3180-4. Epub 2018 Jun 14.
Impact factor: 2.242
Publication type: Letter or abstract
Authors: de Lomas, Juan Garcia, Montaner, Amparo Escribano, de la Serna Blazquez, Olga, Burruchaga, Mikel Santiago, Lopez, Pedro Mondejar, Vernetta, Alba Torrent, Feng, Yang, Van Dyke, Melissa K, Reyes, Janet, Garcia-Corbeira, Pilar et al.
DOI: 10.1007/s00431-018-3180-4

Successful use of cinacalcet to treat parathyroid-related hypercalcemia in two pediatric patients.

PMID: 29899992
Journal: Endocrinology, diabetes &amp; metabolism case repo
Year: 2018
Reference: Endocrinol Diabetes Metab Case Rep. 2018 Jun 6;2018. pii: EDM180009. doi: 10.1530/EDM-18-0009. eCollection 2018.
Impact factor: 0
Publication type: Paper in international publication
Authors: Mogas, E, Clemente, M, Castano, L, Moreno-Galdo, A, Yeste, D, Carrascosa, A, Campos-Martorell, A et al.
DOI: 10.1530/EDM-18-0009

Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?

PMID: 29891883
Journal: EUROPEAN JOURNAL OF HUMAN GENETICS
Year: 2018
Reference: Eur J Hum Genet. 2018 Sep;26(9):1329-1338. doi: 10.1038/s41431-018-0202-7. Epub 2018 Jun 11.
Impact factor: 3.636
Publication type: Paper in international publication
Authors: Camats, Nuria, Fernandez-Cancio, Monica, Audi, Laura, Schaller, Andre, Fluck, Christa E et al.
DOI: 10.1038/s41431-018-0202-7

Barcelona Longitudinal Growth Study 1995-2017.

PMID: 29885743
Journal: Endocrinologia, diabetes y nutricion
Year: 2018
Reference: Endocrinol Diabetes Nutr. 2018 Jun - Jul;65(6):311-313. doi: 10.1016/j.endinu.2018.05.002.
Impact factor: 0
Publication type: Editorial in national publication
Authors: Carrascosa, Antonio, Mesa, Jordi et al.
DOI: 10.1016/j.endinu.2018.05.002

Safety of Adrenaline Use in Anaphylaxis: A Multicentre Register.

PMID: 28793302
Journal: INTERNATIONAL ARCHIVES OF ALLERGY AND IMMUNOLOGY
Year: 2017
Reference: Int Arch Allergy Immunol. 2017;173(3):171-177. doi: 10.1159/000477566. Epub 2017 Aug 9.
Impact factor: 2.72
Publication type: Paper in international publication
Authors: Cardona, Victoria, Ferre-Ybarz, Laia, Guilarte, Mar, Moreno-Perez, Nuria, Gomez-Galan, Catalina, Alcoceba-Borras, Eva, Delavalle, Maria Belen, Garriga-Baraut, Teresa et al.
DOI: 10.1159/000477566

Oral Immunotherapy for Food Allergy: A Spanish Guideline. Immunotherapy Egg and Milk Spanish Guide (ITEMS Guide). Part I: Cow Milk and Egg Oral Immunotherapy: Introduction, Methodology, Rationale, Current State, Indications, Contraindications, and Oral Immunotherapy Build-up Phase.

PMID: 28731411
Journal: JOURNAL OF INVESTIGATIONAL ALLERGOLOGY AND CLINICAL IMMUNOLOGY
Year: 2017
Reference: J Investig Allergol Clin Immunol. 2017;27(4):225-237. doi: 10.18176/jiaci.0177.
Impact factor: 3.094
Publication type: Clinical guide
Authors: Vazquez-Ortiz, M, Corzo, J L, De la Hoz, B, Del Olmo, R, Dominguez, O, Fuentes-Aparicio, V, Guallar, I, Larramona, H, Martin-Munoz, F, Matheu, V et al.
DOI: 10.18176/jiaci.0177

Microcephaly with simplified gyral pattern, epilepsy and permanent neonatal diabetes syndrome (MEDS). A new patient and review of the literature.

PMID: 28711742
Journal: European Journal of Medical Genetics
Year: 2017
Reference: Eur J Med Genet. 2017 Oct;60(10):517-520. doi: 10.1016/j.ejmg.2017.07.007. Epub 2017 Jul 12.
Impact factor: 2.137
Publication type: Paper in international publication
Authors: Sanchez-Montanez, Angel, Valenzuela, Irene, Boronat, Susana, Martinez-Saez, Elena, Clemente, Maria, Macaya, Alfons, Carrascosa, Antonio, Munell, Francina et al.
DOI: 10.1016/j.ejmg.2017.07.007

White matter integrity in dyskinetic cerebral palsy: Relationship with intelligence quotient and executive function.

PMID: 28702354
Journal: NeuroImage-Clinical
Year: 2017
Reference: Neuroimage Clin. 2017 May 12;15:789-800. doi: 10.1016/j.nicl.2017.05.005. eCollection 2017.
Impact factor: 4.348
Publication type: Paper in international publication
Authors: Boyd, Roslyn, Pueyo, Roser, Junque, Carme, Melendez-Plumed, Mar, Macaya, Alfons, Laporta-Hoyos, Olga, Pannek, Kerstin, Ballester-Plane, Julia, Reid, Lee B, Vazquez, Elida et al.
DOI: 10.1016/j.nicl.2017.05.005

[Determining asthma treatment in children by monitoring fractional exhaled nitric oxide, sputum eosinophils and leukotriene B]

PMID: 24857428
Journal: ANALES DE PEDIATRIA
Year: 2015
Reference: An Pediatr (Barc). 2015 Jan;82(1):e21-5. doi: 10.1016/j.anpedi.2014.03.012. Epub 2014 May 22.
Impact factor: 0.833
Publication type: Paper in national publication
Authors: Vizmanos-Lamotte, G, Cruz, M J, Gomez-Olles, S, Munoz, X, de Mir Messa, I, Moreno-Galdo, A et al.
DOI: 10.1016/j.anpedi.2014.03.012

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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.