Examinar Artículos por departamento (eus.) "Pediatria"

Now showing items 41-60 of 102

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      Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function 

      Rice, Gillian I.; Park, Sehoon; Gavazzi, Francesco; Adang, Laura A.; Ayuk, Loveline A.; Van Eyck, Lien; Seabra, Luis; Barrea, Christophe; Battini, Roberta; Belot, Alexandre; Berg, Stefan; Billette de Villemeur, Thierry; Bley, Annette E.; Blumkin, Lubov; Boespflug‐Tanguy, Odile; Briggs, Tracy A.; Brimble, Elise; Dale, Russell C.; Darin, Niklas; Debray, François Guillaume; De Giorgis, Valentina; Denecke, Jonas; Doummar, Diane; Drake af Hagelsrum, Gunilla; Eleftheriou, Despina; Estienne, Margherita; Fazzi, Elisa; Feillet, François; Galli, Jessica; Hartog, Nicholas; Harvengt, Julie; Heron, Bénédicte; Heron, Delphine; Kelly, Diedre A.; Lev, Dorit; Levrat, Virginie; Livingston, John H.; Martí Carrera, María Itxaso; Mignot, Cyril; Mochel, Fanny; Nougues, Marie Christine; Oppermann, Ilena; Pérez Dueñas, Belén; Popp, Bernt; Rodero, Mathieu P.; Rodríguez, Diana; Saletti, Veronica; Sharpe, Cia; Tonduti, Davide; Vadlamani, Gayatri; Van Haren, Keith; Tomás Vila, Miguel; Vogt, Julie; Wassmer, Evangeline; Wiedemann, Arnaud; Wilson, Callum J.; Zerem, Ayelet; Zweier, Christiane; Zuberi, Sameer M.; Orcesi, Simona; Vanderver, Adeline L.; Hur, Sun; Crow, Yanick J. (Wiley, 2020-01)
      IFIH1 gain-of-function has been reported as a cause of a type I interferonopathy encompassing a spectrum of autoinflammatory phenotypes including Aicardi-Goutieres syndrome and Singleton Merten syndrome. Ascertaining ...
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      Genetics of Type III Bartter Syndrome in Spain, Proposed Diagnostic Algorithm 

      García Castaño, Alejandro; Pérez de Nanclares, Gustavo; Madariaga Domínguez, Leire ORCID; Aguirre, Mireia; Madrid, Alvaro; Nadal, Inmaculada; Navarro, Mercedes; Lucas, Elena; Fijo, Julia; Espino, Mar; Espitaletta, Zilac; Castaño González, Luis Antonio ORCID; Ariceta, Gema; RenalTube Group (Public Library of Science, 2013-09-18)
      The p.Ala204Thr mutation (exon 7) of the CLCNKB gene is a "founder" mutation that causes most of type III Bartter syndrome cases in Spain. We performed genetic analysis of the CLCNKB gene, which encodes for the chloride ...
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      Gluten-induced RNA methylation changes regulate intestinal inflammation via allele-specific XPO1 translation in epithelial cells 

      Olazagoitia Garmendia, Ane; Zhang, Linda; Mera, Paula; Godbout, Julie K.; Sebastián de la Cruz, Maialen ORCID; García Santisteban, Iraia ORCID; Mendoza Gómez, Luis Manuel; Huerta Madrigal, Alain; Irastorza Terradillos, Iñaki Xarles ORCID; Bhagat, Govind; Green, Peter H.; Herrero, Laura; Serra, Dolors; Rodríguez Pérez, José Antonio ORCID; Verdú, Elena F.; He, Chuan; Bilbao Catalá, José Ramón ORCID; Castellanos Rubio, Ainara (BMJ, 2022-01)
      [EN] Objectives Coeliac disease (CD) is a complex autoimmune disorder that develops in genetically susceptible individuals. Dietary gluten triggers an immune response for which the only available treatment so far is a ...
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      Hospitalizaciones infantiles asociadas a infección por virus de la gripe en 6 ciudades de España (2014-2016) 

      Arístegui Fernández, Javier; González Pérez-Yarza, Eduardo ORCID; Mellado Peña, María José; Rodrigo Gonzalo de Liria, Carlos; Hernández Sampelayo, Teresa; García García, Juan José; Ruiz Contreras, Jesús; Moreno Pérez, David; Garrote Llanos, Elisa; Ramos Amador, José Tomás; Cilla Eguiluz, Carlos Gustavo; Méndez Hernández, María; HOSPIGRIP (Doyma, 2018-02)
      Introduction: There are only a limited number of studies on the impact of influenza in the Spanish child population. The present work intends to increase this knowledge by studying some key aspects, such as the incidence ...
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      Identification and Functional Analysis of a Novel CTNNB1 Mutation in Pediatric Medulloblastoma 

      Alaña, Lide; Nunes Xavier, Caroline E.; Zaldumbide Dueñas, Laura; Martín Guerrero, Idoia; Mosteiro González, Lorena; Alba Pavón, Piedad; Villate, Olatz; García Obregón, Susana; González García, Hermenegildo; Herraiz, Raquel; Astigarraga Aguirre, María Iciar; Pulido Murillo, Rafael; García Ariza, Miguel Angel (MDPI, 2022-01-14)
      Medulloblastoma is the primary malignant tumor of the Central Nervous System (CNS) most common in pediatrics. We present here, the histological, molecular, and functional analysis of a cohort of 88 pediatric medulloblastoma ...
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      Identification of a panel of serum protein markers in early stage of sepsis and its validation in a cohort of patients 

      Garcia-Obregon, Susana; Azkargorta, Mikel; Seijas, Iratxe; Pilar-Orive, Javier; Borrego, Francisco; Elortza, Felix; Boyano López, María Dolores ORCID; Astigarraga Aguirre, María Iciar (Elsevier, 2018-08)
      Background: Sepsis is a life-threatening illness with a challenging diagnosis. Current serum biomarkers are not sensitive enough for diagnosis. With the aim of finding proteins associated with sepsis, serum protein profile ...
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      Identification of germline cancer predisposition variants in pediatric sarcoma patients from somatic tumor testing 

      Alba Pavón, Piedad; Alaña, Lide; Gutiérrez Jimeno, Miriam; García Obregón, Susana; Imízcoz, Teresa; Panizo, Elena; González Urdiales, Paula; Echebarria Barona, Aizpea Beatriz; López Almaraz, Ricardo; Zaldumbide Dueñas, Laura; Astigarraga Aguirre, María Iciar; Patiño García, Ana; Villate, Olatz (Nature, 2023-02)
      Genetic predisposition is an important risk factor for cancer in children and adolescents but detailed associations of individual genetic mutations to childhood cancer are still under intense investigation. Among pediatric ...
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      Immunization schedule of the Pediatric Spanish Association: 2022 recommendations 

      Comité Asesor de Vacunas de la Asociación Española de Pediatría; Garrote Llanos, María Isabel (Elsevier, 2022-01)
      [EN] After reviewing the best available scientific information, CAV-AEP publishes their new recommendations to protect pregnant women, children and adolescents living in Spain through vaccination. The same recommendations ...
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      Immunogenic dynamics and SARS-CoV-2 variant neutralisation of the heterologous ChAdOx1-S/BNT162b2 vaccination: Secondary analysis of the randomised CombiVacS study 

      García Pérez, Javier; González Pérez, María; Castillo de la Osa, María; Borobia, Alberto M.; Castaño González, Luis Antonio ORCID; Bertrán, María Jesús; Campins, Magdalena; Portolés, Antonio; Lora, David; Bermejo, Mercedes; Conde, Patricia; Hernández Gutiérrez, Lourdes; Carcas, Antonio; Arana Arri, Eunate; Tortajada, Marta; Fuentes, Inmaculada; Ascaso, Ana; García Morales, María Teresa; De la Torre Tarazona, Humberto Erick; Arribas, José Ramón; Pérez Olmeda, Mayte (Elsevier, 2022-08)
      Background The CombiVacS study was designed to assess immunogenicity and reactogenicity of the heterologous ChAdOx1-S/BNT162b2 combination, and 14-day results showed a strong immune response. The present secondary analysis ...
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      Impact of the COVID-19 pandemic on pediatric invasive bacterial infections 

      Martín Irazabal, Garazi; Gangoiti, Iker; Gómez Cortés, Borja; Lizarraga Navarro, Libe; Mintegi Raso, Santiago ORCID (Asociación Española de Pediatría, 2023-03)
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      Impacto de la vacunación en embarazadas sobre la reemergencia de la tosferina y su forma de presentación en urgencias 

      Gangoiti, Iker; Martínez Fernández, Elena; Garmendia, Oihane; Díez, Ainhoa; Mintegi Raso, Santiago ORCID (Ediciones Doyma, 2020-08)
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      Importance of Timely Treatment Initiation in Infantile-Onset Pompe Disease, a Single-Centre Experience 

      De las Heras Montero, Javier Adolfo; Cano San José, Ainara; Vinuesa Jaca, Ana; Montes, Marta; Unceta Suárez, María; Arza, Arantza; Jiménez, Saioa; Vera de Pedro, Elena; Del Hoyo Moracho, Marta; Gendive, Miriam; Aguirre, Lizar; Muñoz García, Gisela Cristina; Fernández, Javier; Ruiz Espinoza, Cynthia; Fernández, María Ángeles; Galdeano Miranda, José Miguel; Rodríguez, Irene; Román Echevarría, Lourdes; Rodríguez Serna, Amaya; Loureiro, Begoña; Astigarraga Aguirre, María Iciar (MDPI, 2021-11-09)
      Abstract Classic infantile Pompe disease (IPD) is a rare lysosomal storage disorder characterized by severe hypertrophic cardiomyopathy and profound muscle weakness. Without treatment, death occurs within the first 2 years ...
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      Incidence of Diabetes Mellitus and Associated Risk Factors in the Adult Population of the Basque Country, Spain 

      Urrutia, Inés; Martín Nieto, Alicia; Martínez Salazar, Rosa; Casanovas Marsal, Josep Oriol; Aguayo Calcena, Aníbal; Del Olmo, Juan; Arana Arri, Eunate; Fernández Rubio, Elsa; Castaño González, Luis Antonio ORCID; Gaztambide Sáenz, María Sonia (Nature, 2021-02-04)
      The aim of this study was to estimate the incidence of diabetes mellitus in the Basque Country and the risk factors involved in the disease by reassessing an adult population after 7 years of follow-up. In the previous ...
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      Intentional self-poisoning increase in the emergency department in Spain during the COVID-19 pandemic 

      Azkunaga, Beatriz; Mintegi Raso, Santiago ORCID; Grupo de Trabajo de Intoxicaciones de la Sociedad Española de Urgencias de Pediatría (Elsevier, 2023-01)
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      Intoxicaciones en el siglo XXI: desde la cuna hasta la adolescencia 

      Mintegi Raso, Santiago ORCID; Azkunaga, Beatriz (Elsevier, 2022-11)
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      Involvement of SNPs in miR-3117 and miR-3689d2 in Childhood Acute Lymphoblastic Leukemia Risk 

      Gutiérrez Camino, Ángela ORCID; Martín Guerrero, Idoia; Dolzan, Vita; Jazbec, Janez; Carbone Bañeres, Ana; García de Andoin Barandiaran, Nagore; Sastre, Ana; Astigarraga Aguirre, María Iciar; Navajas Gutiérrez, Aurora; García-Orad Carles, África ORCID (Board, 2018-04-01)
      Acute lymphoblastic leukemia (ALL) is the most common cancer in children. Numerous studies have shown that microRNAs (miRNAs) could play a role in this disease. Nowadays, more than 2500 miRNAs have been described, that ...
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      Iodine Deficiency and Mortality in Spanish Adults: Di@bet.es Study 

      Maldonado Araque, Cristina; Valdés, Sergio; Badía Guillén, Rocío; Lago Sampedro, Ana; Colomo, Natalia; García Fuentes, Eduardo; Gutiérrez Repiso, Carolina; Goday, Albert; Calle Pascual, Alfonso; Castaño González, Luis Antonio ORCID; Castell, Conxa; Delgado, Elías; Menéndez Torre, ‪Edelmiro; Franch Nadal, Josep; Gaztambide Sáenz, María Sonia; Girbes, Joan; Chaves, Felipe J.; Soriguer, Federico; Rojo Martínez, Gemma (Mary Ann Liebert, 2021-01-01)
      Background:Longitudinal data assessing the impact of iodine deficiency (ID) on mortality are scarce. We aimed to study the association between the state of iodine nutrition and the risk of total and cause-specific mortality ...
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      Langerhans cell histiocytosis. Advances in pathogenesis and clinical practice. 

      Astigarraga Aguirre, María Iciar; García Obregón, Susana; Pérez Martínez, Antonio; Gutiérrez Carrasco, Ignacio; Santa-María López, Vicente; Rodríguez-Vigil Iturrate, Carmen; Lorite Reggiori, Mikael; Murciano Carrillo, Thais; Torrent, Montse; Grupo de Histiocitosis de la Sociedad Española de Hematología y Oncología Pediátricas (SEHOP) (Elsevier, 2022-08)
      Langerhans cell histiocytosis (LCH) is a type of myeloid neoplasia that can affect different organs or tissues and exhibits substantial variability in its clinical presentation and biological behaviour, so it may mimic ...
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      Leigh Syndrome Associated with TRMU Gene Mutations 

      Sala Coromina, Julia; Dougherty de Miguel, Lucia; De las Heras Montero, Javier Adolfo; Lasa Aranzasti, Amaia; García Arumí, Elena; Carreño, Lidia; Arranz, José Antonio; Carnicer, Clara; Unceta Suárez, María; Sánchez Montañez, Ángel; Gort, Laura; Tort, Frederic; Del Toro, Mireia (Elsevier, 2021-03)
      tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase (TRMU) deficiency causes an early onset potentially reversible acute liver failure, so far reported in less than 30 patients. We describe two new unrelated patients ...
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      Long-Term Burden and Respiratory Effects of Respiratory Syncytial Virus Hospitalization in Preterm Infants — The SPRING Study 

      Carbonell-Estrany, Xavier; González Pérez-Yarza, Eduardo ORCID; Sanchez García, Laura; Guzmán Cabañas, Juana M.; Villarrubia Bòria, Elena; Bernardo Atienza, Belén; IRIS (Infección Respiratoria Infantil por Virus Respiratorio Sincitial) Study Group (Public Library Science, 2015-05-08)
      The health status of premature infants born 32(1)-35(0) weeks' gestational age (wGA) hospitalized for RSV infection in the first year of life (cases; n = 125) was compared to that of premature infants not hospitalized for ...