Obstetrics, Pediatrics and Genetics

Overview

The Obstetrics, Pediatrics and Genetics area is focused on the research on the congenital malformations and pediatric diseases. The Fetal Maternal Medicine group creates synergies through the combined work of basic science researchers and clinical investigators in the preclinical basis of placental insufficiency complications and congenital heart disease. The Bio-Cell Fetal group, recently incorporated, studies basic pathophysiological mechanisms of fetal and pediatric congenital malformations, while the Growth and Development group does research on pediatric endocrine diseases. There is also a Genetics Medicine group that combines genetic diagnosis and research and is pioneer in Spain.

Publications

82

total

338.132

impact factor

4.124

average impact factor

Director: Antonio Carrascosa Lezcano and Antonio Moreno Galdó

team

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Our group has finished the Barcelona growth longitudinal study 1995-2017. This study set a new standard for growth assessment. All data are available at www.millennialsgrowth.com.
We have contributed to the identification of SGPL1 mutations causing primary adrenal insufficiency and a novel steroid-resistant nephrotic syndrome.
During this year we have consolidated our participation in several European Networks to reinforce our research lines on pediatric endocrinology and respiratory rare diseases: Translational research in primary ciliary dyskinesia, European Network for translational research in children’s and adult interstitial lung disease, and the European Reference Networks Endo-ERN and ERN LUNG.
We have design several gene panels for the diagnosis of rare diseases related to growth disorders, sexual differentiation anomalies, congenital adrenal insufficiency, hyperinsulinism, congenital hypothyroidism, primary ciliary dyskinesia and pediatric interstitial lung disorders.

25

total

95^.684

impact factor

3^.827

average impact factor

SELECTED ARTICLES

Prasad R, Hadjidemetriou I, Maharaj A, Meimaridou E, Buonocore F, Saleem M, Hurcombe J, Bierzynska A, Barbagelata E, Bergadá I, Cassinelli H, Das U, Krone R, Hacihamdioglu B, Sari E, Yesilkaya E, Storr HL, Clemente M, Fernandez-Cancio M, Camats N, Ram N, Achermann JC, Van Veldhoven PP, Guasti L, Braslavsky D, Guran T, Metherell LA.
Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome.
J Clin Invest. 2017;127:942-953.
DOI: 10.1172/JCI90171
IF: 12,784
Zijlstra WM, Elmasry O, Pepplinkhuizen S, Ivy DD, Bonnet D, Luijendijk P, Lévy M, Gavilan JL, Torrent-Vernetta A, Mendoza A, Del Cerro MJ, Moledina S, Berger RM.
Pulmonary arterial hypertension in children after neonatal arterial switch operation.
Heart. 2017;103:1244-1249.
DOI: 10.1136/heartjnl-2016-310624
IF: 6,06
Espiau M, Yeste D, Noguera-Julian A, Soler-Palacín P, Fortuny C Ferrer R, Comas I, Martín-Nalda A, Deyà-Martínez Á, Figueras C, Carrascosa A.
Adiponectin, Leptin and Inflammatory Markers in HIV-associated Metabolic Syndrome in Children and Adolescents. .
Pediatr Infect Dis J 2017;.36:e31-e37.
DOI: 10.1097/INF.0000000000001394
IF: 2,486
Barben J, Castellani C, Dankert-Roelse J, Gartner S, Kashirskaya N, Linnane B, Mayell S, Munck A, Sands D, Sommerburg O, Pybus S, Winters V, Southern KW.
The expansion and performance of national newborn screening programmes for cystic fibrosis in Europe.
J Cyst Fibros. 2017; 16:207-213.
DOI: 10.1016/j.jcf.2016.12.012
IF: 4,727
Laporta-Hoyos O, Pannek K, Ballester-Plané J, Reid LB, Vázquez É, Delgado I, Zubiaurre-Elorza L, Macaya A, Póo P, Meléndez-Plumed M, Junqué C, Boyd R, Pueyo R.
White matter integrity in dyskinetic cerebral palsy: Relationship with intelligence quotient and executive function.
Neuroimage Clin. 2017;15:789-800.
DOI: 10.1016/j.nicl.2017.05.005
IF: 4,35

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