Endocrinology & Nephrology
Growth & Development
Antonio Carrascosa Lezcano, Antonio Moreno Galdó
Researchers Laura Audí Parera, Núria Camats Tarruella, Félix Castillo Salinas, Maria Clemente León, Mónica Fernández Cancio, Diego Yeste Fernández | Technical Staff Erica Alejandra Serrano Barbero
Summary
During 2015 the Research group of Paediatric Endocrinology has evolved to become the Growth and Development Group, in order to expand research to other aspects of Paediatrics, particularly Neonatology and Paediatric Pulmonology.
This year, our CIBERER Research group has received a very good evaluation (2012-2014, 88.4/100).
We have incorporated a Beatriu de Pinós Researcher and the Group has been awarded with a new FIS grant.
During 2015, Group activity has been oriented towards translational medicine on rare diseases. Of major impact are fields related to skeletal growth, disorders of sex development, familial glucocorticoid deficiency and rickets predisposing factors, ciliary dyskinesia and interstitial pneumonias. Also, the group continues its work in the updating of anthropometric growth charts for normal children to final adult height.
This year, we have implemented new techniques of next-generation sequencing that allowed us to obtain molecular diagnoses in paediatric patients previously lacking it.
Publications
9
total
20.193
impact factor
2.238
average impact factor
Selected articles+
- Camats N, Audí L, Fernández-Cancio M, Andaluz P, Mullis PE, Carrascosa A, Flück CE. LRH-1 may rescue SF-1 deficiency for steroidogenesis: An in vitro and in vivo study. Sex Dev. 2015;9:144-54.
- Camats N, Fernández-Cancio M, Audí L, Mullis PE, Moreno F, González Casado I, López-Siguero JP, Corripio R, Bermúdez de la Vega JA, Blanco JA, Flück CE. Human MAMLD1 gene variations seem not Sufficient to explain a 46,XY DSD phenotype. PLoS One. 2015;10:e014283.
- Bermúdez de la Vega JA, Fernández-Cancio M, Bernal S, Audí L. Complete androgen insensitivity syndrome associated with male gender identity or female precocious puberty in the same family. Sex Dev. 2015;9:75-9.
- Pérez-Yarza EG, Moreno-Galdó A, Ramilo O, Rubí T, Escribano A, Torres A, Sardón O, Oliva C, Pérez G, Cortell I, Rovira-Amigo S, Pastor-Vivero MD, Pérez-Frías J, Velasco V, Torres-Borrego J, Figuerola J, Barrio MI, García-Hernández G, Mejías A; SAREPREM 3235 investigators. Risk factors for bronchiolitis, recurrent wheezing, and related hospitalization in preterm infants during the first year of life. Pediatr Allergy Immunol. 2015;26:797-804.
- Vizmanos-Lamotte G, Canturri Gispert E, Núñez Eroles V, Martínez Abelló M, Martínez Benazet J, Moreno-Galdó A. Sputum induction with inhaled mannitol in children. Eur Respir J. 2015;46:552-4.
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Main research projects
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- Longitudinal growth study in the population of Barcelona (1995-2016)
Funding organisation: VHIR
Project coordinator: Antonio Carrascosa Lezcano
- A systematic Elucidation of Differences of Sex Development (DSDnet).
Funding organisation: EU Framework Programme Horizon 2020. COST Action BM1303.
Start date: 7/11/2013. Finish date: 6/11/2017.
Project Coordinator: Olaf Hiort (Lübeck). Co-Chair: Laura Audí (Barcelona).
- Identification and characterization of molecular mechanisms involved in the anomaly Sex Differentiation anomalies by applying massive sequencing techniques and aCGH.
Funding organisation: Instituto de Salud Carlos III (ISCIII).
Application number: FIS: PI15/01647
Start date: july 2015. Finish date: 2018.
Project coordinators: Mónica Fernández-Cancio (Barcelona) y Sara Benito (Madrid).
- Research consolidated group on Paediatric Endocrinology
Funding organisation: AGAUR (Agència de Gestió d’Ajuts Universitaris i de Recerca). Application number: 2014SGR 1302.
Start date: 2015. Finish date: 2017.
Project coordinador: Antonio Carrascosa Lezcano.
- Effect of Supplementation With Vitamin D on the Acute Bronchitis Prevention During the First Year of Life (VitDBR2012)
Funding Organisation: Ministerio Sanidad Servicios Sociales e Igualdad. EC11-476
Start date 2012. Finish date: 2016
Project coordinator: Antonio Moreno Galdó
