Now showing items 1-20 of 73

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      A Comprehensive Study of Vesicular and Non-Vesicular miRNAs from a Volume of Cerebrospinal Fluid Compatible with Clinical Practice 

      Prieto Fernández, Endika; Aransay Bañares, Ana María; Royo, Félix; González Jiménez, María Esperanza; Lozano, Juan José; Santos Zorrozúa, Borja; Macías Cámara, Nuria; González López, Monika; Pérez Garay, Raquel; Benito Fernández, Francisco Javier; García Orad, África; Falcón Pérez, Juan Manuel (Ivyspring International Publisher, 2019)
      Cerebrospinal fluid (CSF) microRNAs (miRNAs) have emerged as potential biomarkers for minimally invasive diagnosis of central nervous system malignancies. However, despite significant advances in recent years, this field ...
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      A Delphi Process to Optimize Quality and Performance of Drug Evaluation in Neonates 

      Legrand, Frederic; Boulkedid, Rym; Elie, Valery; Leroux, Stephanie; Valls, Elizabeth; Valls Soler, Adolfo; Van den Anker, Johannes N.; Jacqz-Aigrain, Evelyne (Public Library Science, 2014-09-11)
      Background: Neonatal trials remain difficult to conduct for several reasons: in particular the need for study sites to have an existing infrastructure in place, with trained investigators and validated quality procedures ...
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      A Genotyping Method Combining Primer Competition PCR with HRM Analysis to Identify Point Mutations in Duchenne Animal Models 

      Lasa Fernández, Haizpea; Mosqueira Martín, Laura; Alzualde, Ainhoa; Lasa Elgarresta, Jaione; Vallejo Illaramendi, Ainara (Nature, 2020-10-14)
      Dystrophin-null sapje zebrafish is an excellent model for better understanding the pathological mechanisms underlying Duchenne muscular dystrophy, and it has recently arisen as a powerful tool for high-throughput screening ...
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      A Morphological Method for Ammonia Detection in Liver 

      Gutiérrez de Juan, Virginia; López de Davalillo, Sergio; Fernández Ramos, David; Barbier Torres, Lucía; Zubiete Franco, Imanol; Fernández Tussy, Pablo; Simon Espinosa, Jorge; Lopitz Otsoa, Fernando; De las Heras Montero, Javier Adolfo; Iruzubieta, Paula; Arias Loste, María Teresa; Villa, Erica; Crespo, Javier; Andrade, Raúl; Lucena, M. Isabel; Varela Rey, Marta; Lu, Shelly C.; Mato, José M.; Cardoso Delgado, Teresa de Jesús; Martínez Chantar, María Luz (Public Library Science, 2017-03-20)
      Hyperammonemia is a metabolic condition characterized by elevated levels of ammonia and a common event in acute liver injury/ failure and chronic liver disease. Even though hepatic ammonia levels are potential predictive ...
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      A Novel Noninvasive Method Based on Salivary Inflammatory Biomarkers for the Screening of Celiac Disease 

      Sebastián de la Cruz, Maialen; Olazagoitia Garmendia, Ane; Huerta Madrigal, Alain; García Etxebarria, Koldo; Mendoza Gómez, Luis Manuel; Fernández Jiménez, Nora; García Casales, Zuriñe; De la Calle Navarro, E.; Calvo, A. E.; Legarda Tamara, María; Tutau Gómez, Carlos; Irastorza Epelde, Igor; Bujanda Fernández de Pierola, Luis; Bilbao Catalá, José Ramón; Castellanos Rubio, Ainara (Elsevier, 2021)
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      A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis 

      Sarasola, Esther; Rodríguez Pérez, José Antonio; Garrote Llanos, María Isabel; Arístegui Fernández, Javier; García-Barcina, María J. (BioMed Central, 2011-06-27)
      Background: Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive genetic disease characterized by the lack of reaction to noxious stimuli and anhidrosis. It is caused by mutations in the ...
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      Accuracy in Copy Number Calling by qPCR and PRT : A Matter of DNA 

      Fernández-Jiménez, Nora; Castellanos Rubio, Ainara; Plaza-Izurieta, Leticia; Gutiérrez, Galder; Irastorza Terradillos, Iñaki Xarles; Castaño González, Luis Antonio; Vitoria Cormenzana, Juan Carlos; Bilbao Catalá, José Ramón (Public Library of Science, 2011-12-13)
      The possible implication of copy number variation (CNV) in the genetic susceptibility to human disease needs to be assessed using robust methods that can be applied at a population scale. In this report, we analyze the ...
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      Acidosis tubular renal distal hereditaria: correlación genotípica, evolución a largo plazo y nuevas perspectivas terapéuticas 

      Gómez Conde, Sara; García Castaño, Alejandro; Aguirre, Mireia; Herrero Goñi, María; Gondra Sangroniz, Leire; Castaño González, Luis Antonio; Madariaga Domínguez, Leire (Elsevier, 2021-07)
      [ES] La acidosis tubular renal distal (ATRD) es una enfermedad rara que se debe al fallo del proceso normal de acidificación de la orina a nivel tubular distal y colector. Se caracteriza por una acidosis metabólica ...
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      Addition of terlipressin to initial volume resuscitation in a pediatric model of hemorrhagic shock improves hemodynamics and cerebral perfusion 

      Gil Antón, Javier; Mielgo, Victoria; Rey Santano, María Carmen; Galbarriatu, Lara; Santos, Carlos; Unceta, María; López Fernández, Yolanda; Redondo, Silvia; Morteruel, Elvira (Public Library Science, 2020-07-02)
      Hemorrhagic shock is one of the leading causes of mortality and morbidity in pediatric trauma. Current treatment based on volume resuscitation is associated to adverse effects, and it has been proposed that vasopressors ...
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      Alveolar nitric oxide and its role in pediatric asthma control assessment 

      Sardón Prado, Olaia; Corcuera, Paula; Aldasoro, Ane; Korta Murua, José Javier; Mintegui, Javier; Emparanza, José I; González Pérez-Yarza, Eduardo (Biomed Central, 2014-08-04)
      Resumen Background: Nitric oxide can be measured at multiple flow rates to determine proximal (maximum airway nitric oxide flux; Jaw(NO)) and distal inflammation (alveolar nitric oxide concentration; CA(NO)). The main ...
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      Antibiotic Use in Febrile Children Presenting to the Emergency Department: a Systematic Review 

      Van De Voort, Elles; Mintegi Raso, Santiago; Gervaix, Alain; Moll, Henriette A.; Oostenbrink, Rianne (Frontiers Media SA, 2018-10-08)
      Introduction: While fever is the main complaint among pediatric emergency services and high antibiotic prescription are observed, only a few studies have been published addressing this subject. Therefore this systematic ...
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      Are environmental risk factors for current wheeze in the International Study of Asthma and Allergies in Childhood (ISAAC) phase three due to reverse causation? 

      ISAAC Phase Three Study Group; González Díaz, Carlos; Pérez-Yarza Pérez-Irezabal, Gorka (Wiley, 2019-04)
      Background: Phase Three of the International Study of Asthma and Allergies in Childhood (ISAAC) measured the global prevalence of symptoms of asthma in children. We undertook comprehensive analyses addressing risk factors ...
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      Association between long term exposure to particulate matter and incident hypertension in Spain 

      Doulatram Gamgaram, Viyey; Valdés, Sergio; Maldonado Araque, Cristina; Lago Sampedro, Ana; Badía Guillén, Rocío; García Escobar, Eva; García Serrano, Sara; García Vivanco, Marta; Garrido, Juan Luis; Theobald, Mark Richard; Gil, Victoria; Martín Llorente, Fernando; Calle Pascual, Alfonso; Bordiú, Elena; Castaño González, Luis Antonio; Delgado, Elías; Franch Nadal, Josep; Chaves, Francisco Javier; Montanya, Eduard; Galán García, José Luis; Aguilera Venegas, Gabriel; Soriguer, Federico; Rojo Martínez, Gemma (Nature Research, 2021-10-05)
      [EN]Exposure to air particulate matter has been linked with hypertension and blood pressure levels. The metabolic risks of air pollution could vary according to the specific characteristics of each area, and has not been ...
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      Benefits of early aggressive immunomodulatory therapy (tocilizumab and methylprednisolone) in COVID-19: Single center cohort study of 685 patients 

      HUBU-COVID-19 group; Astigarraga Aguirre, María Iciar (Elsevier, 2021)
      Introduction: A growing evidence suggests that immune dysregulation and thrombotic phenomena are key features in the pathophysiology of COVID-19. Apart from antivirals and respiratory support, anticoagulants, corticoids ...
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      Calcium Mechanisms in Limb-Girdle Muscular Dystrophy with CAPN3 Mutations 

      Lasa Elgarresta, Jaione; Mosqueira Martín, Laura; Naldaiz Gastesi, Neia; Sáenz Peña, Amets; López de Munain Arregui, Adolfo José; Vallejo Illaramendi, Ainara (MDPI, 2019-09-02)
      Limb-girdle muscular dystrophy recessive 1 (LGMDR1), previously known as LGMD2A, is a rare disease caused by mutations in the CAPN3 gene. It is characterized by progressive weakness of shoulder, pelvic, and proximal limb ...
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      Calendario de vacunaciones de la Asociación Española de Pediatría: recomendaciones 2020 

      Álvarez García, Francisco José; Cilleruelo Ortega, María José; Álvarez Aldeán, Javier; Garcés Sánchez, María; García Sánchez, Nuria; Garrote Llanos, Elisa; Hernández Merino, Ángel; Iofrío de Arce, Antonio; Merino Moína, Manuel; Montesdeoca Melián, Abián; Navarro Gómez, María Luisa; Ruiz Contreras, Jesús; Asociación Española de Pediatría (CAV-AEP) (Doyma, 2020-01)
      El CAV-AEP publica anualmente el calendario de vacunaciones que estima idóneo para los niños residentes en España, teniendo en cuenta la evidencia científica disponible. Se mantiene el esquema 2 + 1 (2, 4 y 11 meses) ...
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      Calendario de vacunaciones de la Asociación Española de Pediatría: recomendaciones 2021 

      Álvarez García, Francisco José; Cilleruelo Ortega, María José; Álvarez Aldeán, Javier; Garcés Sánchez, María; García Sánchez, Nuria; Garrote Llanos, Elisa; Hernández Merino, Ángel; Iofrío de Arce, Antonio; Montesdeoca Melián, Abián; Navarro Gómez, María Luisa; Ruiz Contreras, Jesús; Comité Asesor de Vacunas de la Asociación Española de Pediatría (Asociación Española de Pediatría, 2021-01)
      The CAV-AEP annually publishes the immunisation schedule considered optimal for all children and adolescent resident in Spain, taking into account the available evidence. The 2+1 schedule is recommended (2, 4, and 11 months) ...
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      Calendario de vacunaciones de la Asociación Española de Pediatría: Recomendaciones 2022 

      Álvarez García, Francisco José; Cilleruelo Ortega, María José; Álvarez Aldeán, Javier; Garcés Sánchez, María; Garrote Llanos, Elisa; Iofrío de Arce, Antonio; Montesdeoca Melián, Abián; Navarro Gómez, María Luisa; Pineda Solas, Valentín; Rivero Calle, Irene; Ruiz Contreras, Jesús; Serrano Marchuet, Pepe; Comité Asesor de Vacunas de la Asociación Española de Pediatría (Doyma, 2022-01)
      Tras la revisión de la mejor información científica disponible, el CAV-AEP publica las nuevas recomendaciones para proteger con vacunas a las embarazadas, los niños y los adolescentes residentes en España. Se mantienen ...
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      Celiac disease in the Mediterranean area 

      Tucci, Francesca; Astarita, Luca; Abkari, Abdelhak; Abu-Zekry, Mona; Attard, Thomas; Ben Hariz, Mongi; Bilbao Catalá, José Ramón; Boudraa, Ghazalia; Boukthir, Samir; Costa, Stefano; Djurisic, Veselinka; Hugot, Jean-Pierre; Irastorza Terradillos, Iñaki Xarles; Kansu, Aydan; Kolacek, Sanja; Magazzu, Giuseppe; Micetic-Turk, Dusanka; Misak, Zrinjka; Roma, Eleftheria; Rossi, Pasqualino; Terzic, Selma; Velmishi, Virtut; Arcidiaco, Carmela; Auricchio, Renata; Greco, Luigi; (BioMed Central, 2014-02)
      Background: The World Gastroenterology Organization recommends developing national guidelines for the diagnosis of Celiac Disease (CD): hence a profile of the diagnosis of CD in each country is required. We aim to describe ...
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      Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency 

      Domínguez González, Cristina; Madruga Garrido, Marcos; Hirano, Michio; Martí Carrera, María Itxaso; Martín, Miguel A.; Munell, Francina; Nascimento, Andrés; Olivé, Montse; Quan, Joanne; Sardina, María Dolores; Martí, Ramón; Paradas, Carmen (BMC, 2021-10-02)
      [EN]Background: Mitochondrial diseases are difficult to diagnose and treat. Recent advances in genetic diagnostics and more effective treatment options can improve patient diagnosis and prognosis, but patients with ...