Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Ariadna Campos"'
Autor:
Mónica Fernández-Cancio, María Antolín, María Clemente, Ariadna Campos-Martorell, Eduard Mogas, Noelia Baz-Redón, Jordi Leno-Colorado, Gemma Comas-Armangué, Elena García-Arumí, Laura Soler-Colomer, Núria González-Llorens, Núria Camats-Tarruella, Diego Yeste
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
IntroductionDefects in any thyroid hormone synthesis steps cause thyroid dyshormonogenesis (THD). THD due to thyroglobulin (TG) gene variants is a cause of congenital hypothyroidism (CH) with a wide clinical spectrum, ranging from mild to severe perm
Externí odkaz:
https://doaj.org/article/488622cb30184b09bcb312808aad3740
Autor:
Cristina Aguilar-Riera, María Clemente, Núria González-Llorens, Eduard Mogas, Ariadna Campos-Martorell, Anna Fàbregas, Betina Biagetti, Elida Vázquez, Diego Yeste
Publikováno v:
Clinical Diabetes and Endocrinology, Vol 9, Iss 1, Pp 1-7 (2023)
Abstract Background Pituitary adenomas (PPAs) are uncommon in childhood and adolescence, accounting for 2–6% of all intracranial neoplasms. Delayed puberty, growth retardation, galactorrhea and weight gain are common features at presentation in ped
Externí odkaz:
https://doaj.org/article/272123603e1e43fe9421bb8604ccaf4c
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
Autor:
Chrysanthi Kouri, Grit Sommer, Idoia Martinez de Lapiscina, Rawda Naamneh Elzenaty, Lloyd J.W. Tack, Martine Cools, S. Faisal Ahmed, Christa E. Flück, Saygin Abali, Zehra Yavas Abali, Leyla Akin, Maricruz Almaraz, Laura Audí, Murat Aydin, Antonio Balsamo, Federico Baronio, Jillian Bryce, Kanetee Busiah, Maria Caimari, Núria Camats-Tarruella, Ariadna Campos-Martorell, Luis Castaño, Anna Casteràs, Semra Çetinkaya, Yee-Ming Chan, Hedi L. Claahsen-van der Grinten, Ines Costa, Fatma Feyza Darendeliler, Justin H. Davies, Isabel Esteva, Helena Fabbri-Scallet, Courtney A. Finlayson, Emilio Garcia, Beatriz Garcia Cuartero, Alina German, Evgenia Globa, Gil Guerra-Junior, Julio Guerrero, Tulay Guran, Sabine E. Hannema, Olaf Hiort, Josephine Hirsch, Leuan Hughes, Marco Janner, Zofia Kolesinska, Katherine Lachlan, Anna Lauber-Biason, Jana Krenek Malikova, Dagmar l'Allemand, Nina Lenhnerr-Taube, Angela Lucas-Herald, Jamala Mammadova, Kenneth MсElreavey, Veronica Mericq, Isabel Mönig, Francisca Moreno, Julia Mührer, Marek Niedziela, Anna Nordenstrom, Burçe Orman, Sukran Poyrazoglu, Jose M. Rial, Meilan M. Rutter, Amaia Rodríguez, Tara Schafer-Kalkhoff, Kay-Sara Sauter, Sumudu Nimali Seneviratne, Maria Sredkova-Ruskova, Rieko Tadokoro-Cuccaro, Ajay Thankamony, Mónica Tomé, Amaia Vela, Malgorzata Wasniewska, David Zangen, Nataliya Zelinska
Publikováno v:
EBioMedicine, Vol 99, Iss , Pp 104941- (2024)
Summary: Background: Steroidogenic factor 1 (SF-1/NR5A1) is essential for human sex development. Heterozygous NR5A1/SF-1 variants manifest with a broad range of phenotypes of differences of sex development (DSD), which remain unexplained. Methods: We
Externí odkaz:
https://doaj.org/article/85fc4633ac7a47e48fff5e498c208fd3
Autor:
Lilisbeth Perestelo-Pérez, Amado Rivero-Santana, Cristina Valcárcel-Nazco, Yolanda Álvarez-Pérez, Pedro Serrano-Aguilar, Yolanda Ramallo-Fariña, Lidia García-Pérez, Miguel Angel García-Bello, Himar Gonzalez-Pacheco, Ariadna Campos Martorell, Amparo González Vergaz, Ana María Prado Carro, Anunciación Beisti Ortego, Atilano José Carcavilla Urqui, Cristina Amparo Del Castillo Villaescusa, Estela Gil Poch, Francisco Javier Arroyo Diez, Gemma Novoa Gómez, Isabel González Casado, Juncal Martínez Ibáñez, Laura Cuadrado Piqueras, Leticia Reis Iglesias, Lucia Garzón Lorenzo, Luis Salamanca Fresno, María Asunción Martínez Brocca, María Aurea Rodríguez Blanco, María Del Mar Martínez López, María Jesús Ferreiro Rodríguez, María Ruiz del Campo, Nerea Itza Martín, Patricia García Navas, Rebeca García García
Publikováno v:
BMJ Open, Vol 13, Iss 12 (2023)
Objectives This study aimed to evaluate the effectiveness, safety and costs of FreeStyle Libre (FSL) glucose monitoring system for children and adolescents with type 1 diabetes mellitus (T1DM) in Spain.Design Prospective, multicentre pre-post study.S
Externí odkaz:
https://doaj.org/article/76b9ce12a0f6454ab98ea98b4703e0df
Autor:
Ariadna Campos-Martorell, Alicia Montaner Ramon, Karla Narváez Barros, José Luis Marin Soria, Rosa Maria López Galera, Diego Yeste Fernández, María Clemente León
Publikováno v:
JCRPE, Vol 14, Iss 4, Pp 453-462 (2022)
INTRODUCTION: Preterm and low birth weight (LBW) neonates may present with thyroid dysfunction during a critical period for neurodevelopment. These alterations can be missed on routine congenital hypothyroidism (CH) screening which only measures thyr
Externí odkaz:
https://doaj.org/article/b543e18b751a417e8b3d6eeda3a6ba72
Autor:
Alicia Montaner-Ramón, Susana Hernández-Pérez, Ariadna Campos-Martorell, Marta Ballesta-Anguiano, María Clemente-León, Félix Castillo-Salinas
Publikováno v:
Anales de Pediatría (English Edition), Vol 96, Iss 2, Pp 130-137 (2022)
Introduction: Preterm newborns (PN) have a higher risk of thyroid dysfunction than term newborns (TN). This condition may go unnoticed in neonatal screening due to a late elevation of thyrotropin (TSH) in these patients. Objective: Evaluate thyroid f
Externí odkaz:
https://doaj.org/article/8d7e573405cc49daa90ab4f3a87cc23a
Autor:
Betina Biagetti, Irene Valenzuela, Ariadna Campos-Martorell, Berta Campos, Sara Hernandez, Marina Giralt, Noelia Díaz-Troyano, Emilio Iniesta-Serrano, Diego Yeste, Rafael Simó
Publikováno v:
Diagnostics, Vol 13, Iss 13, p 2259 (2023)
Genetic tests have led to the discovery of many novel genetic variants related to growth failure, but the clinical significance of some results is not always easy to establish. The aim of this report is to describe both clinical phenotype and genetic
Externí odkaz:
https://doaj.org/article/8f63673b4573472290fc26efb38110ce
Autor:
Nieves Martín-Begué, Eduard Mogas, Charlotte Wolley Dod, Silvia Alarcón, María Clemente, Ariadna Campos-Martorell, Ana Fábregas, Diego Yeste
Publikováno v:
JCRPE, Vol 13, Iss 2, Pp 146-151 (2021)
Objective:To investigate the incidence of pseudotumor cerebri syndrome (PTCS) in children treated with growth hormone (GH) in a paediatric hospital and to identify risk factors for this complication.Methods:Prospective pilot study of paediatric patie
Externí odkaz:
https://doaj.org/article/2a1febac78bc496a920bcf1a976b2649
Autor:
Amadora Moral-Martos, Julio Guerrero-Fernández, Marcelino Gómez Balaguer, Itxaso Rica Echevarría, Ariadna Campos-Martorell, María Jesús Chueca-Guindulain, Emilio García García, Raúl Hoyos-Gurrea, Diego López de Lara, Juan Pedro López-Siguero, José María Martos Tello, Cristina Mora Palma, Isolina Riaño Galán, Diego Yeste Fernández
Publikováno v:
Anales de Pediatría, Vol 96, Iss 4, Pp 349.e1-349.e11 (2022)
Resumen: Algunas personas, también las menores de edad, tienen una identidad de género que no se corresponde con el sexo asignado al nacer. Se les conoce como personas trans*, que es el término paraguas que engloba transgénero, transexual y otras
Externí odkaz:
https://doaj.org/article/7686def332184557935a68b0d07f6e4c