Miocardiopatía hipertrófica. Manejo durante el embarazo y el parto

Autor: A. Martín, N. Castro, C. Molo, I. Eguiluz, Jose Ángel García-Hernández, W. Plasencia, M.A. Barber, J. Martínez-Sopena

Publikováno v: Clínica e Investigación en Ginecología y Obstetricia. 31:169-175

Hypertrophic cardiomyopathy is not a single disease, but a group of diseases caused by mutations in genes encoding different sarcomeric proteins. The phenotype expression depends on multiple genetic and environmental factors. In this paper, we descri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b4af694ac81dc1602786600386ac0b6e
https://doi.org/10.1016/s0210-573x(04)77327-x

Novel (60%) and Recurrent (40%) Androgen Receptor Gene Mutations in a Series of 59 Patients with a 46,XY Disorder of Sex Development

Autor: Mónica Fernández-Cancio, J. Martínez-Mora, E. Vicens-Calvet, M. Carrera, M. Andrade, M. Gussinyé, Antonio Perez-Aytes, Emilio Suárez García, C. Piró, Teresa Vendrell, G. Lledó, M. Del Campo, Laura Audí, Pablo Lapunzina, L. Castaño, Diego Yeste, J. Sánchez del Pozo, José Luis Arroyo, Andrés Blanco Blanco, Maria Clemente, José I Labarta, A. Carrascosa, I. Hernández de la Calle, J. A. Bermúdez de la Vega, J. Forn, Joaquim Calaf, Pilar Andaluz, J. del Valle, E. Mayayo, Nuria Toran, E. Vilaró, Isabel Salinas, M. Beneyto, O. Angerri, Ángel Segura, María Caimari, Ricardo Gracia-Bouthelier, María Angeles Albisu, M. J. Martínez-Sopena, Elisabeth Gabau, V. Borrás, M. J. Martínez-Aedo, María Luisa Granada, Antonio M. Rodríguez

Publikováno v: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Universitat Politècnica de Catalunya (UPC)

Background: Androgen receptor (AR) gene mutations are the most frequent cause of 46, XY disorders of sex development (DSD) and are associated with a variety of phenotypes, ranging from phenotypic women [complete androgen insensitivity syndrome (CAIS)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee95fe3c9ea372221848db8eb441771e
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=12781

[High frequency oscillatory ventilation in the preterm newborn infants with respiratory distress syndrome]

Autor: C, Tejera Ramírez, C, Siles Quesada, D, Reyes Suárez, G, González Azpeitia, M, Gresa, J, Martínez Sopena, J, Quero Jiménez

Publikováno v: Anales espanoles de pediatria. 46(2)

The objective of this study was to evaluate the efficiency and response of gas exchange by the use of high frequency respiratory modalities in cases rescued after failure of conventional mechanical ventilation.A retrospective study of twelve prematur

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5d15b08e6f9b3d9a067f2a8f57c97195
https://pubmed.ncbi.nlm.nih.gov/9157809

[Mesenteric cysts]

Autor: I, Villamañan de la Cal, F, Conde Redondo, C, Valbuena Crespo, C, Galvo Romero, M J, Martínez Sopena, S, Gómez García

Publikováno v: Anales espanoles de pediatria. 37(2)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7dac6c5a59c16588a550e21cea657e69
https://pubmed.ncbi.nlm.nih.gov/1416548

[Secondary carbohydrate intolerance. Evolutive follow-up (author's transl)]

Autor: M, Alonso Franch, P, Urruzuno Tellería, C, Calvo Romero, M J, Martínez Sopena, F, Conde Redondo

Publikováno v: Anales espanoles de pediatria. 11(6-7)

This study reports 70 children suffering from malabsorption and/or carbohydrate intolerance followed for at least twelve months. Mono and dysaccharide overload curves are considered as very valuable tests together with the clinical signs. These must

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a7466f7373c0896817d597bf3edaf478
https://pubmed.ncbi.nlm.nih.gov/697219