Genetic and Functional Studies of Patients with Thyroid Dyshormonogenesis and Defects in the TSH Receptor (TSHR)

Autor: Diego Yeste, Noelia Baz-Redón, María Antolín, Elena Garcia-Arumí, Eduard Mogas, Ariadna Campos-Martorell, Núria González-Llorens, Cristina Aguilar-Riera, Laura Soler-Colomer, María Clemente, Mónica Fernández-Cancio, Núria Camats-Tarruella

Publikováno v: International Journal of Molecular Sciences, Vol 25, Iss 18, p 10032 (2024)

Genetic defects in the TSH receptor (TSHR) can cause poor thyroid differentiation (thyroid dysgenesis) and/or thyroid malfunction (thyroid dyshormonogenesis). The phenotype spectrum is wide: from severe congenital hypothyroidism to mild hyperthyrotro

Externí odkaz: https://doaj.org/article/6db32d13fde146ef804b06517a220881

Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype–Phenotype Correlation

Autor: Noelia Baz-Redón, María Antolín, María Clemente, Ariadna Campos, Eduard Mogas, Mónica Fernández-Cancio, Elisenda Zafon, Elena García-Arumí, Laura Soler, Núria González-Llorens, Cristina Aguilar-Riera, Núria Camats-Tarruella, Diego Yeste

Publikováno v: International Journal of Molecular Sciences, Vol 25, Iss 15, p 8473 (2024)

Thyroid dyshormonogenesis (THD) is a heterogeneous group of genetic diseases caused by the total or partial defect in the synthesis or secretion of thyroid hormones. Genetic variants in DUOX2 can cause partial to total iodination organification defec

Externí odkaz: https://doaj.org/article/5aad576b04f343ee948ea345c6334141

Different profiles of lipoprotein particles associate various degrees of cardiac involvement in adolescents with morbid obesity

Autor: José M. Siurana, Anna Sabaté-Rotés, Núria Amigó, Neus Martínez-Micaelo, Larry Arciniegas, Lucia Riaza, Eduard Mogas, Ferran Rosés-Noguer, Paula S. Ventura, Diego Yeste

Publikováno v: Frontiers in Pediatrics, Vol 10 (2022)

IntroductionDyslipidemia secondary to obesity is a risk factor related to cardiovascular disease events, however a pathological conventional lipid profile (CLP) is infrequently found in obese children. The objective is to evaluate the advanced lipopr

Externí odkaz: https://doaj.org/article/aa39fd9f25cd44379687f2b11851ad92

Precisión diagnóstica del índice de masa triponderal (kg/m3) para identificar el fenotipo de riesgo metabólico en pacientes obesos

Autor: Diego Yeste, María Clemente, Ariadna Campos, Anna Fábregas, Eduard Mogas, Laura Soler, Antonio Carrascosa

Publikováno v: Anales de Pediatría, Vol 94, Iss 2, Pp 68-74 (2021)

Resumen: Introducción: El fenotipo obeso metabólicamente sano (FOMS) define a los pacientes obesos que tienen preservada la sensibilidad a la insulina y que no presentan complicaciones metabólicas. Este fenotipo se asocia a menor riesgo de padecer

Externí odkaz: https://doaj.org/article/8ae694d7f2c947bd8cc1c282f721265f

Growth Hormone Treatment and Papilledema: A Prospective Pilot Study

Autor: Silvia Alarcón, Charlotte Wolley Dod, Eduard Mogas, Nieves Martín-Begué, Diego Yeste, Maria Clemente, Ana Fabregas, Ariadna Campos-Martorell

Publikováno v: Journal of Clinical Research in Pediatric Endocrinology
JCRPE, Vol 13, Iss 2, Pp 146-151 (2021)
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona

Objective To investigate the incidence of pseudotumor cerebri syndrome in children treated with growth hormone in a paediatric hospital and to identify risk factors of this complication. Methods Prospective pilot study of paediatric patients treated

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::306f7b1545f9448adb41185f50cdfddf
http://europepmc.org/articles/PMC8186341