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1.
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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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2.
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15 p, 2.3 MB |
Different profiles of lipoprotein particles associate various degrees of cardiac involvement in adolescents with morbid obesity
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Siurana, José Manuel (Universitat Autònoma de Barcelona) ;
Sabaté-Rotés, Anna (Hospital Universitari Vall d'Hebron) ;
Amigó, Núria (Institut D'Investigació Sanitària Pere Virgili) ;
Martínez-Micaelo, Neus (Institut D'Investigació Sanitària Pere Virgili) ;
Arciniegas, Larry (Hospital Universitari Vall d'Hebron) ;
Riaza, Lucia (Hospital Universitari Vall d'Hebron) ;
Mogas, Eduard (Hospital Universitari Vall d'Hebron) ;
Rosés-Noguer, Ferran (Hospital Universitari Vall d'Hebron) ;
Ventura, Paula S. (Institut Germans Trias i Pujol. Fundació Lluita Contra les Infeccions) ;
Yeste Fernández, Diego (Hospital Universitari Vall d'Hebron)
Dyslipidemia 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 lipoprotein testing (ALT) and its relationship with cardiac changes, metabolic syndrome (MS) and inflammatory markers in a population of morbidly obese adolescents with normal CLP and without type 2 diabetes mellitus, the most common scenario in obese adolescents. [...]
2022 - 10.3389/fped.2022.887771
Frontiers in Pediatrics, Vol. 10 (november 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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7 p, 110.9 KB |
Pràctica Clínica en Pediatria [106712]
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Rodrigo Gonzalo De Liria, Carlos ;
Ginovart Galiana, Gemma ;
Méndez Hernández, María Jesús ;
Yeste Fernández, Diego ;
Francisco Profumo, Antonio de ;
Sanchez Manubens, Judith ;
Boronat, Susanna ;
Rodriguez Fanjul, Javier ;
Universitat Autònoma de Barcelona.
Facultat de Medicina
L'assignatura correspon al darrer any del Grau de Medicina (6è curs), un cop l'alumnat ja coneix els fonaments científics de la Pediatria. L' objectiu general és que l'alumnat consolidi els anteriors coneixements i assoleixi les habilitats clíniques, comunicatives i de cerca i maneig de la informació científica referents a la Pediatria: Classifiquem els objectius en generals i específics. [...]
The subject corresponds to the last year of the Degree in Medicine (6th year), once the students already know the scientific foundations of Paediatrics. The general objective is for students to consolidate previous knowledge and achieve clinical, communication and research and handling skills for scientific information related to Paediatrics: We classify the objectives in general and specific. [...]
La asignatura corresponde al último año del Grado de Medicina (6º curso), una vez que el alumnado ya conoce los fundamentos científicos de la Pediatría. El objetivo general es que el alumnado consolide los anteriores conocimientos y alcance las habilidades clínicas, comunicativas y de búsqueda y manejo de la información científica referentes a la Pediatría: Clasificamos los objetivos en general y específicos. [...]
2023-24
Grau en Medicina [1509]
3 documents
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5.
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8 p, 867.3 KB |
Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe
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Nowotny, Hanna (Universität München) ;
Neumann, Uta (Charité - Universitätsmedizin Berlin) ;
Tardy-Guidollet, Véronique (Université Lyon I) ;
Ahmed, S. Faisal (University of Glasgow) ;
Baronio, Federico (Paediatric Endocrinology Unit) ;
Battelino, Tadej (Department of Endocrinology) ;
Bertherat, Jérôme (Hôpitaux Universitaires Paris-Centre) ;
Blankenstein, Oliver (Charité - Universitätsmedizin Berlin) ;
Bonomi, Marco (University of Milan) ;
Bouvattier, Claire (Hôpital de Bicêtre) ;
Brac de la Perrière, Aude (Fédération d'Endocrinologie) ;
Brucker, Sara (Department of Women's Health) ;
Cappa, Marco (Endocrinology Unit) ;
Chanson, Philippe (Assistance Publique-Hôpitaux de Paris) ;
Claahsen-van der Grinten, Hedi L. (Amalia Children's Hospital) ;
Colao, Annamaria (Universita' Federico II di Napoli) ;
Cools, Martine (Universitair Ziekenhuis Gent) ;
Davies, Justin H. (Universitair Ziekenhuis Gent) ;
Dörr, Helmut-Günther (Universitätsklinikum Erlangen) ;
Fenske, Wiebke K. (University Hospital Bonn (Bonn, Alemanya)) ;
Ghigo, Ezio (University of Turin) ;
Giordano, Roberta (University of Turin) ;
Gravholt, Claus H. (Aarhus University Hospital (Aarhus, Dinamarca)) ;
Huebner, Angela (Universitätsklinikum Dresden) ;
Husebye, Eystein Sverre (Haukeland University Hospital (Bergen, Noruega)) ;
Igbokwe, Rebecca (Birmingham Women's Hospital) ;
Juul, Anders (Copenhagen University Hospital) ;
Kiefer, Florian W. (University of Vienna) ;
Léger, Juliane (AP-HP Paris Nord Université de Paris) ;
Menassa, Rita (Université Lyon I) ;
Meyer, Gesine (Goethe University Frankfurt) ;
Neocleous, Vassos (Cyprus School of Molecular Medicine) ;
Phylactou, Leonidas A. (Cyprus School of Molecular Medicine) ;
Rohayem, Julia (Centre of Reproductive Medicine and Andrology) ;
Russo, Gianni (Scientific Institute San Raffaele) ;
Scaroni, Carla (Università di Padova) ;
Touraine, Philippe (Sorbonne Université) ;
Unger, Nicole (University Hospital Essen (Alemanya)) ;
Vojtková, Jarmila (Comenius University in Bratislava) ;
Yeste Fernández, Diego (Hospital Universitari Vall d'Hebron) ;
Lajic, Svetlana (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Reisch, Nicole (Medizinische Klinik und Poliklinik IV) ;
Universitat Autònoma de Barcelona
To assess the current medical practice in Europe regarding prenatal dexamethasone (Pdex) treatment of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. A questionnaire was designed and distributed, including 17 questions collecting quantitative and qualitative data. [...]
2022 - 10.1530/EJE-21-0554
European journal of endocrinology, Vol. 186 (march 2022) , p. K17-K24
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262 p, 5.3 MB |
Evaluación del crecimiento desde etapa prepuberal hasta talla adulta de pacientes con retardo crónico e idiopático del crecimiento tratados con hormona de crecimiento : efectos de la discontinuación del tratamiento
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Mogas Viñals, Eduard ;
Yeste Fernández, Diego, dir. ;
Fernández Cancio, Mónica, dir. ;
Carrascosa Lezcano, Antonio, 1949-, dir. ;
Moreno Galdó, Antonio, dir.
Pendents.
2021
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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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11 p, 746.0 KB |
Safety Outcomes During Pediatric GH Therapy : Final Results From the Prospective GeNeSIS Observational Program
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Child, Christopher J. (Eli Lilly and Company, Windlesham, Surrey, United Kingdom) ;
Zimmermann, Alan G. (Eli Lilly and Company, Indianapolis, Indiana) ;
Chrousos, George P. (National and Kapodistrian University of Athens, School of Medicine, Athens, Greece) ;
Cummings, Elisabeth (Dalhousie University/IWK Health Centre, Halifax, Nova Scotia, Canada) ;
Deal, Cheri L. (University of Montreal and CHU Ste-Justine, Montreal, Quebec, Canada) ;
Hasegawa, Tomonobu (Keio University School of Medicine, Shinjuku-ku, Tokyo, Japan) ;
Jia, Nan (Eli Lilly and Company, Indianapolis, Indiana) ;
Lawrence, Sarah (Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada) ;
Linglart, Agnès (Hôpital Bicêtre Paris Sud, Paris, France) ;
Loche, Sandro (Ospedale Pediatrico Microcitemico "A. Cao," AO Brotzu, Cagliari, Italy) ;
Maghnie, Mohamad (Istituto Giannina Gaslini, University of Genova, Genoa, Italy) ;
Pérez Sánchez, Jacobo (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Polak, Michel (Hôpital Universitaire Necker Enfants Malades and Université Paris Descartes, Centre des Maladies Endocrines Rares de la Croissance, Paris, France) ;
Predieri, Barbara (University of Modena and Reggio Emilia, Modena, Italy) ;
Richter-Unruh, Annette (University Children's Hospital, Bochum, Germany) ;
Rosenfeld, Ron G. (Oregon Health and Science University, Portland, Oregon) ;
Yeste Fernández, Diego (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Yorifuji, Tohru (Osaka City General Hospital, Miyakojima-ku, Osaka, Japan) ;
Blum, Werner F.. (University of Giessen, Giessen, Germany) ;
Universitat Autònoma de Barcelona
Safety concerns have been raised regarding premature mortality, diabetes, neoplasia, and cerebrovascular disease in association with GH therapy. To assess incidence of key safety outcomes. Prospective, multinational, observational study (1999 to 2015). [...]
2018 - 10.1210/jc.2018-01189
The journal of clinical endocrinology & metabolism, Vol. 104 (september 2018) , p. 379-389
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10.
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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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