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1.
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7 p, 1.3 MB |
Increased Presentation of Diabetic Ketoacidosis and Changes in Age and Month of Type 1 Diabetes at Onset during the COVID-19 Pandemic in Spain
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Leiva-Gea, Isabel (Instituto de Investigación Biomédica de Málaga) ;
Antúnez Fernández, Cristina (Hospital Punta de Europa) ;
Cardona-Hernandez, Roque (Hospital Sant Joan de Déu (Manresa)) ;
Ferrer Lozano, Marta (Hospital Universitario Miguel Servet (Saragossa)) ;
Bahíllo-Curieses, Pilar (Hospital Clínico Universitario de Valladolid) ;
Arroyo-Díez, Javier (Hospital Universitario Materno Infantil de Badajoz) ;
Clemente León, María (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Martín-Frías, Maria (Hospital Universitario Ramón y Cajal (Madrid)) ;
Conde Barreiro, Santiago (Centro de Salud de Barbastro) ;
Mingorance Delgado, Andrés (Hospital General Universitario de Alicante (Alacant, País Valencià)) ;
Pérez Sánchez, Jacobo (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Universitat Autònoma de Barcelona
To assess the impact of the COVID-19 pandemic and lockdown measures on the presenting characteristics (age at diagnosis, severity, monthly distribution) of newly diagnosed type 1 diabetes in Spanish children. [...]
2022 -  10.3390/jcm11154338
Journal of clinical medicine, Vol. 11 (july 2022)
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2.
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8 p, 4.1 MB |
Novel variant in HHAT as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both thumbs : Case report
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Baz-Redón, Noelia (Hospital Universitari Vall d'Hebron) ;
Soler-Colomer, Laura (Hospital Universitari Vall d'Hebron) ;
Fernández Cancio, Mónica (Hospital Universitari Vall d'Hebron) ;
Benito-Sanz, Sara (Hospital Universitario La Paz (Madrid)) ;
Garrido-Marin, Marta (Hospital Universitari Vall d'Hebron) ;
Moliné, Teresa (Hospital Universitari Vall d'Hebron) ;
Clemente, Maria (Hospital Universitari Vall d'Hebron) ;
Camats Tarruella, Núria (Hospital Universitari Vall d'Hebron) ;
Yeste Fernández, Diego (Hospital Universitari Vall d'Hebron) ;
Universitat Autònoma de Barcelona
The palmitoylation of the Hedgehog (Hh) family of morphogens, named sonic hedgehog (SHH), desert hedgehog (DHH), and Indian hedgehog (IHH), is crucial for effective short- and long-range signaling. The hedgehog acyltransferase (HHAT) attaches the palmitate molecule to the Hh; therefore, variants in HHAT cause a broad spectrum of phenotypes. [...]
2022 - 10.3389/fendo.2022.957969
Frontiers in Endocrinology, Vol. 13 (october 2022)
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3.
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10 p, 393.1 KB |
Thyroid Function in 509 Premature Newborns Below 31 Weeks of Gestational Age : Evaluation and Follow-up
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Campos-Martorell, Ariadna (Hospital Universitari Vall d'Hebron) ;
Montaner Ramón, Alicia (Hospital Universitari Vall d'Hebron) ;
Narváez Barros, Karla (Hospital del Mar (Barcelona, Catalunya)) ;
Marin Soria, Jose Luis (Hospital Clínic i Provincial de Barcelona) ;
López Galera, Rosa Maria (Hospital Clínic i Provincial de Barcelona) ;
Yeste Fernández, Diego (Hospital Universitari Vall d'Hebron) ;
Clemente, Maria (Hospital Universitari Vall d'Hebron) ;
Universitat Autònoma de Barcelona
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 thyroid stimulating hormone (TSH). [...]
2022 - 10.4274/jcrpe.galenos.2022.2022-2-1
Journal of Clinical Research in Pediatric Endocrinology, Vol. 14 (december 2022) , p. 453-462
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4.
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15 p, 8.0 MB |
The Lack of Alternative Oxidase 1a Restricts in vivo Respiratory Activity and Stress-Related Metabolism for Leaf Osmoprotection and Redox Balancing Under Sudden Acute Water and Salt Stress in Arabidopsis thaliana
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Fernández Del-Saz, Néstor (Universidad de Concepción) ;
Iglesias Sánchez, Ariadna (Centre de Recerca en Agrigenòmica) ;
Alonso-Forn, David (Centro de Investigación y Tecnología Agroalimentaria de Aragón) ;
López Gómez, Miguel (Universidad de Granada. Departamento de Fisiología Vegetal) ;
Palma Martín, Francisco José (Universidad de Granada. Departamento de Fisiología Vegetal) ;
Clemente-Moreno, Maria Jose (Universitat de les Illes Balears. Departament de Biologia) ;
Fernie, Alisdair (Max-Planck-Institut für Molekulare Pflanzenphysiologie) ;
Ribas-Carbo, Miquel (Universitat de les Illes Balears. Departament de Biologia) ;
Florez-Sarasa, I. (Institut de Recerca i Tecnologia Agroalimentàries)
In plants salt and water stress result in an induction of respiration and accumulation of stress-related metabolites (SRMs) with osmoregulation and osmoprotection functions that benefit photosynthesis. [...]
2022 - 10.3389/fpls.2022.833113
Frontiers in plant science, Vol. 13 (May 2022) , art. 833113
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5.
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9 p, 817.8 KB |
Therapy options for adrenal insufficiency and recommendations for the management of adrenal crisis
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Nowotny, Hanna (Klinikum der Universität München) ;
Ahmed, S. Faisal (University of Glasgow) ;
Bensing, Sophie (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Beun, Johan G. (AdrenalNET (Holanda)) ;
Brösamle, Manuela (University Hospital of Würzburg) ;
Claahsen van der Grinten, Hedi (Radboud University Medical Centre) ;
Clemente, Maria (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Falhammar, Henrik (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Hahner, Stefanie (University Hospital of Würzburg) ;
Husebye, Eystein Sverre (Haukeland University Hospital (Bergen, Noruega)) ;
Kristensen, Jette (European Patient Advocacy Group for Adrenal Diseases (Holanda)) ;
Loli, Paola (San Raffaele Vita-Salute University) ;
Lajic, Svetlana (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Reisch, Nicole (Klinikum der Universität München) ;
Universitat Autònoma de Barcelona
Adrenal insufficiency (AI) is a life-threatening condition requiring life-long glucocorticoid (GC) substitution therapy, as well as stress adaptation to prevent adrenal crises. The number of individuals with primary and secondary adrenal insufficiency in Europe is estimated to be 20-50/100. [...]
2021 - 10.1007/s12020-021-02649-6
Endocrine, march 2021, p. 1-9
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6.
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6 p, 162.4 KB |
Growth Hormone Treatment and Papilledema : A Prospective Pilot Study
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Martín-Begué, Nieves (Hospital Universitari Vall d'Hebron) ;
Mogas, Eduard (Hospital Universitari Vall d'Hebron) ;
Dod, Charlotte Wolley (Hospital Universitari Vall d'Hebron) ;
Alarcón, Silvia (Hospital Universitari Vall d'Hebron) ;
Clemente, Maria (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Campos-Martorell, Ariadna (Universitat Autònoma de Barcelona) ;
Fábregas, Ana (Hospital Universitari Vall d'Hebron) ;
Yeste Fernández, Diego (Centro de Investigación Biomédica en Red de Enfermedades Raras)
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. Prospective pilot study of paediatric patients treated with recombinant human GH, prescribed by the Paediatric Endocrinology Department, between February 2013 and September 2017. [...]
2021 - 10.4274/jcrpe.galenos.2020.2020.0007
Journal of Clinical Research in Pediatric Endocrinology, Vol. 13 (june 2021) , p. 146-151
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7.
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21 p, 2.2 MB |
Differences in metabolic and physiological responses between local and widespread grapevine cultivars underwater deficit stress
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Florez-Sarasa, Igor (Centre de Recerca en Agrigenòmica) ;
Clemente-Moreno, Maria Jose (Universitat de les Illes Balears) ;
Cifre, Josep (Universitat de les Illes Balears) ;
Capo, Miquel (Universitat de les Illes Balears) ;
Llompart, Miquel (Universitat de les Illes Balears) ;
Fernie, Alisdair (Max-Ilanck-Institute of Molecular Plant Physiology (Germany)) ;
Bota, Josefina (Universitat de les Illes Balears)
Climate change forecasts suggest temperature increases and lower rainfall rates, both of which challenge viticulture, particularly in semi-arid areas where water availability is critical. In this scenario, tlx-use of tlx-genetic variability in grapevine varieties reported around the world represents an important strategy for the selection of climate-resilient cultivars. [...]
2020 - 10.3390/AGRONOMY10071052
Agronomy, Vol. 10, Issue 7 (July 2020) , art. 1052
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8.
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7 p, 557.1 KB |
Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy
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Salazar-Mendiguchía, Joel (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Ochoa, Juan Pablo (Health in Code) ;
Palomino-Doza, Julian (Instituto de Salud Carlos III) ;
Domınguez, Fernando (Hospital Universitario Puerta de Hierro Majadahonda (Madrid)) ;
Díez-López, Carles (Hospital Universitari de Bellvitge) ;
Akhtar, Mohammed (St Bartholomew's Hospital (Regne Unit)) ;
Ramiro-León, Soraya (Hospital Universitario de Getafe (Madrid)) ;
Clemente, María M. (Hospital Virgen del Puerto) ;
Pérez-Cejas, Antonia (Hospital Universitario de Canarias (La Laguna)) ;
Robledo, María (Hospital Txagorritxu) ;
Gómez-Díaz, Iria (Health in Code) ;
Peña-Peña, María Luisa (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Climent, Vicente (Hospital General Universitario de Alicante (Alacant, País Valencià)) ;
Salmerón-Martínez, Francisco (Complejo Hospitalario Universitario de Albacete) ;
Hernández, Celestino (Hospital Universitario Nuestra Señora de Candelaria (Santa Cruz de Tenerife)) ;
García-Granja, Pablo Elpidio (Hospital Clínico Universitario de Valladolid) ;
Mogollón, M. Victoria (Hospital San Pedro de Alcántara) ;
Cárdenas-Reyes, Ivonne (Health in Code) ;
Cicerchia, Marcos (Health in Code) ;
García-Giustiniani, Diego (Health in Code) ;
Lamounier Jr., Arsonval (Health in Code) ;
Gil-Fournier, Belén (Hospital Universitario de Getafe (Madrid)) ;
Díaz-Flores, Felícitas (Hospital Universitario de Canarias (La Laguna)) ;
Salguero, Rafael (Hospital Universitario 12 de Octubre (Madrid)) ;
Santomé, Luis (Health in Code) ;
Syrris, Petros (University College London) ;
Olivé, Montse (Hospital Universitari de Bellvitge) ;
García-Pavía, Pablo (University Francisco de Vitoria (UFV)) ;
Ortiz-Genga, Martín (Health in Code) ;
Elliott, Perry M. (University College London) ;
Monserrat, Lorenzo (Health in Code)
Up to 50% of patients with hypertrophic cardiomyopathy (HCM) show no disease-causing variants in genetic studies. TRIM63 has been suggested as a candidate gene for the development of cardiomyopathies, although evidence for a causative role in HCM is limited. [...]
2020 - 10.1136/heartjnl-2020-316913
Heart, Vol. 106, Issue 17 (September 2020) , p. 1342-1348
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9.
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6 p, 1.3 MB |
Successful use of cinacalcet to treat parathyroid-related hypercalcemia in two pediatric patients
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Mogas Viñals, Eduard (Universitat Autònoma de Barcelona) ;
Campos-Martorell, Ariadna (Universitat Autònoma de Barcelona) ;
Clemente León, María (Universitat Autònoma de Barcelona) ;
Castaño, Luis (Endocrinology and Diabetes Research Group) ;
Moreno Galdó, Antonio (Universitat Autònoma de Barcelona) ;
Yeste Fernández, Diego (Universitat Autònoma de Barcelona) ;
Carrascosa Lezcano, Antonio 1949- (Universitat Autònoma de Barcelona)
2018 - 10.1530/EDM-18-0009
Endocrinology, Diabetes & Metabolism Case Reports, Vol. 2018 (June 2018) , art. 18-0009
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10.
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212 p, 8.1 MB |
Evaluación de la utilidad de la monitorización contínua de glucosa para el estudio del metabolismo hidrocarbonado en pacientes afectos de fibrosis quística
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Bilbao Gassó, Laura ;
Clemente León, María, dir. ;
Carrascosa Lezcano, Antonio, 1949-, dir. ;
Universitat Autònoma de Barcelona.
Departament de Pediatria, d'Obstetrícia i Ginecologia i de Medicina Preventiva
Introducción. En pacientes con fibrosis quística (FQ) la instauración de la diabetes (DRFQ) es lenta y progresiva, con un amplio espectro de alteraciones del metabolismo hidrocarbonado. La aparición de la DRFQ se relaciona con un empeoramiento de la función pulmonar y del estado nutricional. [...]
[Barcelona] : Universitat Autònoma de Barcelona, 2017.
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