BackExaminar Artículos por departamento (eus.) "Pediatria"
Now showing items 81-100 of 102
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Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?
Martínez de la Piscina Martín, Idoia; Hernández Ramírez, Laura C.; Portillo, Nancy; Gómez Gila, Ana L.; Urrutia, Inés; Martínez Salazar, Rosa; García Castaño, Alejandro; Aguayo Calcena, Aníbal; Rica, Itxaso; Gaztambide Sáenz, María Sonia; Faucz, Fabio R.; Keil, Margaret F.; Lodish, Maya B.; Quezado, Martha; Pankratz, Nathan; Chittiboina, Prashant; Lane, John; Kay, Denise M.; Mills, James L.; Castaño González, Luis Antonio
; Stratakis, Constantine A.; Spanish Corticotroph Adenomas Collaborative (Frontiers Media, 2020)
Context: The DICER1 syndrome is a multiple neoplasia disorder caused by germline mutations in the DICER1 gene. In DICER1 patients, aggressive congenital pituitary tumors lead to neonatal Cushing's disease (CD). The role ... -
Reiterative Infusions of MSCs Improve Pediatric Osteogenesis Imperfecta Eliciting a Pro-Osteogenic Paracrine Response: TERCELOI Clinical Trial
(John Wiley & Sons, 2021-01-13)Background Osteogenesis imperfecta (OI) is a rare genetic disease characterized by bone fragility, with a wide range in the severity of clinical manifestations. The majority of cases are due to mutations in the COL1A1 or ... -
Reiterative infusions of MSCs improve pediatric osteogenesis imperfecta eliciting a pro-osteogenic paracrine response: TERCELOI clinical trial
(Wiley, 2021-01-12)Background Osteogenesis imperfecta (OI) is a rare genetic disease characterized by bone fragility, with a wide range in the severity of clinical manifestations. The majority of cases are due to mutations in the COL1A1 or ... -
Relapse patterns and outcome after relapse in standard risk medulloblastoma: a report from the HIT-SIOP-PNET4 study
(Springer, 2016-09)The HIT-SIOP-PNET4 randomised trial for standard risk medulloblastoma (MB) (2001-2006) included 338 patients and compared hyperfractionated and conventional radiotherapy. We here report the long-term outcome after a median ... -
Results of A Phase 1 study of the oncolytic adenovirus DNX-2401 with radiotherapy for newly diagnosed diffuse intrinsic pontine glioma (DIPG)
(Oxford University Press, 2021-06-01)Background A Phase 1, single center study is ongoing to evaluate the conditionally replicative oncolytic adenovirus, DNX-2401 (tasadenoturev), followed by radiotherapy (RT) in pediatric patients with newly diagnosed ... -
Serum vascular endothelial growth factor b and metabolic syndrome incidence in the population based cohort Di@bet.es study
; ; ; ; ; ; ; ; ; ; Castaño González, Luis Antonio; ; ; ; ; (SpringerNature, 2022)
Background/Objectives Although vascular endothelial growth factor b (VEGFb) might have an impact on the development of obesity, diabetes and related disorders, the possible relationship between VEGFb serum levels and the ... -
Social, economic, and health impact of the respiratory syncytial virus: a systematic search
Díez-Domingo, Javier; González Pérez-Yarza, Eduardo; Melero, José A.; Sánchez-Luna, Manuel; Aguilar, María Dolores; Blasco, Antonio Javier; Alfaro, Noelia; Lázaro, Pablo (Biomed Central, 2014-10-30)
Background: Bronchiolitis caused by the respiratory syncytial virus (RSV) and its related complications are common in infants born prematurely, with severe congenital heart disease, or bronchopulmonary dysplasia, as well ... -
Streptococcus pneumoniae , an unusual cause of early- onset neonatal sepsis and necrotizing pneumonia
(Wiley VCH, 2018-08)Key Clinical Message Vertically transmitted sepsis due to Streptococcus pneumoniae has a low incidence, and vaginal colonization among pregnant women is exceptional. Necrotizing pneumonia is uncommon in immunocompetent ... -
Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain
(MDPI, 2022-08-28)Background and objectives: Glycerol phenylbutyrate (GPB) has demonstrated safety and efficacy in patients with urea cycle disorders (UCDs) by means of its clinical trial program, but there are limited data in clinical ... -
Symptomatic Management of Febrile Illnesses in Children: A Systematic Review and Meta-Analysis of Parents' Knowledge and Behaviors and Their Evolution Over Time
Bertille, Nathalie; Purssell, Edward; Hjelm, Nils; Bilenko, Natalya; Chiappini, Elena; De Bont, Eefje G. P. M.; Kramer, Michael S.; Lepage, Philippe; Lava, Sebastiano A. G.; Mintegi Raso, Santiago; Sullivan, Janice E.; Walsh, Anne; Cohen, Jérémie F.; Chalumeau, Martin (Frontiers Media, 2018-10-05)
Recommendations to guide parents' symptomatic management of febrile illnesses in children have been published in many countries. The lack of systematic appraisal of parents' knowledge and behaviors and their evolution over ... -
Targeting the Ubiquitin-Proteasome System in Limb-Girdle Muscular Dystrophy With CAPN3 Mutations
Lasa Elgarresta, Jaione; Mosqueira Martín, Laura; González Imaz, Klaudia; Marco Moreno, Pablo; Gereñu Lopetegi, Gorka; Mamchaoui, Kamel; Mouly, Vincent; López de Munain Arregui, Adolfo José; Vallejo Illarramendi, Ainara (Frontiers Media, 2022)
[EN] LGMDR1 is caused by mutations in the CAPN3 gene that encodes calpain 3 (CAPN3), a non-lysosomal cysteine protease necessary for proper muscle function. Our previous findings show that CAPN3 deficiency leads to reduced ... -
The Pediatric Emergency Research Network (PERN): A decade of global research cooperation in paediatric emergency care
Klassen, Terry P.; Dalziel, Stuart R.; Babl, Franz E.; ; Bressan, Silvia; Chamberlain, James; Chang, Todd P.; Freedman, Stephen B.; Kohn Loncarica, Guillermo; Lyttle, Mark D.; Mintegi Raso, Santiago; Mistry, Rakesh D.; Nigrovic, Lise E.; Oostenbrink, Rianne; Plint, Amy C.; Rino, Pedro; Roland, Damian; Van de Mosselaer, Gregory; Kuppermann, Nathan (Lippincott Williams & Wilkins, 2021-07-03)
Objectives The Pediatric Emergency Research Network (PERN) was launched in 2009 with the intent for existing national and regional research networks in pediatric emergency care to organize globally for the conduct of ... -
The upper-airway microbiome as a biomarker of asthma exacerbations despite inhaled corticosteroid treatment.
(Elsevier, 2023-03)BACKGROUND: The response to inhaled corticosteroids (ICS) in asthma is affected by the interplay of several factors. Among these, the role of the upper-airway microbiome has been scarcely investigated. We aimed to evaluate ... -
Transcription Factor Binding Site Enrichment Analysis In Co-Expression Modules In Celiac Disease
Romero Garmendia, Irati; García Etxebarria, Koldo; Hernández Vargas, Hector; ; ; Plaza Izurieta, Leticia; Cros, Marie-Pierre; Legarda Tamara, María; Irastorza Terradillos, Iñaki Xarles; Herceg, Zdenko; Fernández Jiménez, Nora ; Bilbao Catalá, José Ramón (MDPI, 2018-05-10)
The aim of this study was to construct celiac co-expression patterns at a whole genome level and to identify transcription factors (TFs) that could drive the gliadin-related changes in coordination of gene expression ... -
Transferrin Isoforms, Old but New Biomarkers in Hereditary Fructose Intolerance
(MDPI, 2021-06-30)Hereditary Fructose Intolerance (HFI) is an autosomal recessive inborn error of metabolism characterised by the deficiency of the hepatic enzyme aldolase B. Its treatment consists in adopting a fructose-, sucrose-, and ... -
Two-Sample Mendelian Randomization detects bidirectional causality between gut microbiota and celiac disease in individuals with high genetic risk
; ; Cilleros Portet, Ariadna; ; Fernández Jiménez, Nora ; García Santisteban, Iraia ; Bilbao Catalá, José Ramón (Frontiers Media, 2023-06)
Background: Celiac Disease (CeD) is an autoimmune disorder triggered by gluten intake in genetically susceptible individuals. Highest risk individuals are homozygous for the Human Leucocyte Antigen (HLA) DQ2.5 haplotype ... -
Understanding gut-liver axis nitrogen metabolism in Fatty Liver Disease
; ; Martínez Chantar, María Luz (Frontiers Media, 2022-12)
The homeostasis of the most important nitrogen-containing intermediates, ammonia and glutamine, is a tightly regulated process in which the gut-liver axis plays a central role. Several studies revealed that nitrogen ... -
Use of rasburicase to improve kidney function in children with hyperuricemia and acute kidney injury
; ; Madariaga Domínguez, Leire; ; ; (Springer Nature, 2024-01)
Background Hyperuricemia contributes to decrease in kidney function and induces additional renal damage in children with acute kidney injury (AKI). Rasburicase oxidizes uric acid (UA), decreasing its serum quantities ... -
Utrophin modulator drugs as potential therapies for Duchenne and Becker muscular dystrophies
Soblechero-Martín, Patricia; López-Martínez, Andrea; De la Puente-Ovejero, Laura; Vallejo Illarramendi, Ainara; Arechavala-Gomeza, Virginia (Wiley, 2021-10)
Utrophin is an autosomal paralogue of dystrophin, a protein whose deficit causes Duchenne and Becker muscular dystrophies (DMD/BMD). Utrophin is naturally overexpressed at the sarcolemma of mature dystrophin-deficient ... -
Variable phenotype in HNF1B mutations: extrarenal manifestations distinguish affected individuals from the population with congenital anomalies of the kidney and urinary tract
Madariaga Domínguez, Leire; García Castaño, Alejandro; Ariceta, Gema; Martínez Salazar, Rosa; Aguayo Calcena, Aníbal; Castaño González, Luis Antonio (Oxford Academic, 2019)
Background: Mutations in hepatocyte nuclear factor 1B (HNF1B) have been associated with congenital anomalies of the kidney and urinary tract (CAKUT) in humans. Diabetes and other less frequent anomalies have also been ...