BackExaminar Artículos por departamento (eus.) "Pediatria"
Now showing items 61-80 of 102
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MAGI2 Gene Region and Celiac Disease
; ; García Etxebarria, Koldo; Olazagoitia Garmendia, Ane; Romero Garmendia, Irati; Sebastián de la Cruz, Maialen
; Irastorza Terradillos, Iñaki Xarles ; Spanish Consortium for the Genetics of Celiac Disease; Castellanos Rubio, Ainara; Bilbao Catalá, José Ramón (Frontiers Media, 2019-12-19)
Celiac disease (CD) patients present a loss of intestinal barrier function due to structural alterations in the tight junction (TJ) network, the most apical unions between epithelial cells. The association of TJ-related ... -
Medication use in uncontrolled pediatric asthma: Results from the SysPharmPediA study.
(Elsevier, 2023-02)BACKGROUND: Uncontrolled pediatric asthma has a large impact on patients and their caregivers. More insight into determinants of uncontrolled asthma is needed. We aim to compare treatment regimens, inhaler techniques, ... -
MMADHC Premature Termination Codons in the Pathogenesis of Cobalamin D Disorder: Potential of Translational Readthrough Reconstitution
(Elsevier, 2021-03)Mutations in the MMADHC gene cause cobalamin D disorder (cblD), an autosomal recessive inborn disease with defects in intracellular cobalamin (cbl, vitamin B12) metabolism. CblD patients present methylmalonic aciduria ... -
Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes
Elhayek, Donia; Pérez de Nanclares, Gustavo; Chouchane, Slaheddine; Hamami, Saber; Mlika, Adnene; Troudi, Monia; Leban, Nadia; Ben Romdane, Wafa; Gueddiche, Mohamed Neji; El Amri, Fethi; Mrabet, Samir; Ben Chibani, Jemni; Castaño González, Luis Antonio; Khelil, Amel Haj; Ariceta, Gema (Biomed Central, 2013-11)
Background: Primary distal renal tubular acidosis (dRTA) caused by mutations in the genes that codify for the H+ -ATPase pump subunits is a heterogeneous disease with a poor phenotype-genotype correlation. Up to now, large ... -
Multi-ancestry genome-wide association study of asthma exacerbations
(Wiley, 2022-06)Background: Asthma exacerbations are a serious public health concern due to high healthcare resource utilization, work/school productivity loss, impact on quality of life, and risk of mortality. The genetic basis of asthma ... -
Multicenter prospective study on the burden of rotavirus gastroenteritis in children less than 3 years of age in Spain
(Biomed Central, 2016-10-10)Background: Rotavirus is acknowledged as an important cause of paediatric gastroenteritis worldwide. In Spain, comprehensive data on the burden of rotavirus disease was lacking. Methods: A prospective, multicenter, ... -
Multicentre study of magnet ingestion in Spanish paediatric emergency departments.
(Elsevier, 2022-11)INTRODUCTION: The ingestion of magnetic objects can cause complications in children, and there are no epidemiological or clinical data on the subject in Spain. OBJECTIVES: To determine the incidence, epidemiological ... -
Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias
(MDPI, 2022-10-06)Our clinical series comprises 124 patients with movement disorders (MDs) and/or ataxia with cerebellar atrophy (CA), many of them showing signs of neurodegeneration with brain iron accumulation (NBIA). Ten NBIA genes are ... -
NMR-based newborn urine screening for optimized detection of inherited errors of metabolism
(Nature Publishing, 2019-09-10)Inborn errors of metabolism (IEMs) are rare diseases produced by the accumulation of abnormal amounts of metabolites, toxic to the newborn. When not detected on time, they can lead to irreversible physiological and ... -
Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis
Monnier, Xavier; García Castaño, Alejandro; Perdomo Ramírez, Ana; Vall Palomar, Mònica; Ramos Trujillo, Elena; Madariaga Domínguez, Leire; Ariceta, Gema; Claverie Martín, Félix (Wiley, 2020-11)
Background: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is an autosomal recessive tubulopathy characterized by excessive urinary wasting of magnesium and calcium, bilateral nephrocalcinosis, ... -
Novel genes and sex differences in COVID-19 severity
Castaño González, Luis Antonio; ; ; (Oxford University Press, 2022-11)
Here, we describe the results of a genome-wide study conducted in 11 939 coronavirus disease 2019 (COVID-19) positive cases with an extensive clinical information that were recruited from 34 hospitals across Spain (SCOURGE ... -
Novel Variant in the CNNM2 Gene Associated with Dominant Hypomagnesemia
García Castaño, Alejandro; Madariaga Domínguez, Leire; Antón Gamero, Montserrat; Mejia, Natalia; Ponce, Jenny; Gómez Conde, Sara; Pérez de Nanclares, Gustavo; De la Hoz, Ana Belén; Martínez Salazar, Rosa; Saso Jiménez, Laura; Martínez de la Piscina Martín, Idoia; Urrutia, Inés; Velasco, Olaia; Aguayo Calcena, Aníbal; Castaño González, Luis Antonio ; Gaztambide Sáenz, María Sonia (Public Library Science, 2020-09-30)
The maintenance of magnesium (Mg2+) homeostasis is essential for human life. The Cystathionine-beta-synthase (CBS)-pair domain divalent metal cation transport mediators (CNNMs) have been described to be involved in maintaining ... -
Nutrition risk in the child and adolescent population of the Basque country: the enKid Study
Aranceta Bartrina, Javier; Serra Majem, Lluís; Pérez Rodrigo, Carmen; Ribas Barba, Lourdes; Delgado Rubio, Alfonso (Cambridge University Press, 2006-08)
Cross-sectional population studies provide valuable information for nutrition surveillance and planning intervention strategies. The enKid Study is the largest nutrition survey on the child and adolescent Spanish population ... -
Obesity Parameters, Physical Activity, And Physical Fitness are Correlated With Serum Dipeptidyl Peptidase IV Activity In A Healthy Population
Sanz Echevarría, María Begoña; Larrinaga Embeita, Gorka; ; Gil Antón, Javier; ; Kortaxarena Rubio, Maider ; Izagirre Otaegi, Andrea; Martínez-Lage Alvarez, Pablo; Irazusta Astiazaran, Jon (Elsevier, 2018-05)
Objective: To determine whether obesity, physical fitness, and physical activity parameters are associated with the enzymatic activity of serum dipeptidyl peptidase IV (sDPPIV) in a sample of healthy women and men. Design ... -
Outcomes of SARS-CoV-2-Positive Youths Tested in Emergency Departments: The Global PERN-COVID-19 Study.
Pediatric Emergency Research Network-COVID-19 Study Team; Mintegi Raso, Santiago (American Medical Association, 2022-01-11)
[EN] Importance: Severe outcomes among youths with SARS-CoV-2 infections are poorly characterized. Objective: To estimate the proportion of children with severe outcomes within 14 days of testing positive for SARS-CoV-2 ... -
Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population
Rodríguez Rubio, Enrique; Gil Peña, Helena; Chocron, Sara; Madariaga Domínguez, Leire; De la Cerda Ojeda, Francisco; Fernández Fernández, Marta; De Lucas Collantes, Carmen; Gil, Marta; Luis Yanes, María Isabel; Vergara, Inés; González Rodríguez, Juan David; Ferrando, Susana; Antón Gamero, Montserrat; Carrasco Hidalgo-Barquero, Marta; Fernández Escribano, Angustias; Fernández Maseda, Mª Ángeles; Espinosa, Laura; Oliet, Aniana; Vicente, Antonio; Ariceta, Gema; Santos, Fernando (BMC, 2021-02-27)
BACKGROUND: X-linked hypophosphatemia (XLH) is a hereditary rare disease caused by loss-of-function mutations in PHEX gene leading tohypophosphatemia and high renal loss of phosphate. Rickets and growth retardation are the ... -
Post–COVID-19 Conditions Among Children 90 Days After SARS-CoV-2 Infection
; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; Mintegi Raso, Santiago; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; ; (American Medical Association, 2022-06-22)
IMPORTANCE Little is known about the risk factors for, and the risk of, developing post-COVID-19 conditions (PCCs) among children. OBJECTIVES To estimate the proportion of SARS-CoV-2-positive children with PCCs ... -
Prediction and Monitoring of Partial Remission in Pediatric Type 1 Diabetes
Gómez Muñoz, Laia; Perna Barrull, David; Caroz Armayones, Josep M.; Murillo, Marta; Rodríguez Fernández, Silvia; Valls, Aina; Vázquez, Federico; Pérez Sánchez., Jacobo; Corripio Collado, Raquel; Castaño González, Luis Antonio; Bel, Joan; Vives Pi, Marta (Frontiers Media, 2022)
[EN] The partial remission (PR) phase, a period experienced by most patients with type 1 diabetes (T1D) soon after diagnosis, is characterized by low insulin requirements and improved glycemic control. Given the great ... -
Prevalence and deteminants of obesity in Spanish children and young people
Serra Majem, Lluís; Aranceta Bartrina, Javier; Pérez Rodrigo, Carmen; Ribas Barba, Lourdes; Delgado Rubio, Alfonso (Cambridge University Press, 2006-08)
Prevalence estimates of obesity in a national random sample of Spanish children and young people are presented in this paper, defined by age- and sex-specific BMI national reference standards for the 85th percentile ... -
Pseudohypoparathyroidism Type Ib Associated with Novel Duplications in the GNAS Locus
Pérez de Nanclares, Gustavo; Velayos Gainza, Teresa; Vela Desojo, Amaia; Muñoz-Torres, Manuel; Castaño González, Luis Antonio (Public Library Science, 2015-02-24)
Context Pseudohypoparathyroidism type 1b (PHP-Ib) is characterized by renal resistance to PTH (and, sometimes, a mild resistance to TSH) and absence of any features of Albright's hereditary osteodystrophy. Patients with ...