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1.
Article de Anglais | WPRIM | ID: wpr-741839

RÉSUMÉ

PURPOSE: The neural processing of children with overweight/obesity (CWO), may affect their eating behavior. We investigated the visual information processing of CWO under response control condition, by event-related potential (ERP) study, an electrophysiologic study for cognitive mechanism. METHODS: Seventeen CWO (mean age: 10.6±1.9), and 17 age-matched non-obese children (NOC), participated in the study. Neurocognitive function tests and visual ERP under Go/NoGo conditions, were implemented. Area amplitudes of major ERP components (P1, N1, P2, N2, and P3) from four scalp locations (frontal, central, parietal, and occipital), were analyzed. RESULTS: For Go and NoGo conditions, CWO had significantly greater occipital P1, fronto-central N1, and P2 amplitudes compared with NOC. P2 amplitude was significantly greater in CWO, than in NOC, at the frontal location. N2 amplitude was not significantly different, between CWO and NOC. For CWO and NOC, Go P3 amplitude was highest at the parietal location, and NoGo P3 amplitude was highest at the frontal location. In Go and NoGo conditions, P3 amplitude of CWO was significantly less than in NOC. CONCLUSION: The greater P1, N1, and P2 suggested hyper-vigilance to visual stimuli of CWO, but the smaller P3 suggested insufficient mental representation of them. Such altered visual processing, may affect the eating behavior of CWO.


Sujet(s)
Enfant , Humains , Traitement automatique des données , Potentiels évoqués , Comportement alimentaire , Obésité , Rabéprazole , Cuir chevelu
2.
Article de Anglais | WPRIM | ID: wpr-719108

RÉSUMÉ

X-linked dominant mutations in lysosome-associated membrane protein 2 (LAMP2) gene have been shown to be the cause of Danon disease, which is a rare disease associated with clinical triad of cardiomyopathy, skeletal myopathy, and mental retardation. Cardiac involvement is a common manifestation and is the leading cause of death in Danon disease. We report a case of a 24-month-old boy with hemizygous LAMP2 mutation who presented with failure to thrive and early-onset hypertrophic cardiomyopathy. We applied targeted exome sequencing and found a novel hemizygous c.692del variant in exon 5 of the LAMP2 gene, resulting a frameshift mutation p.Thr231Ilefs*11. Our study indicates that target next-generation sequencing can be used as a fast and highly sensitive screening method for inherited cardiomyopathy.


Sujet(s)
Enfant d'âge préscolaire , Humains , Mâle , Cardiomyopathies , Cardiomyopathie hypertrophique , Cause de décès , Exome , Exons , Retard de croissance staturo-pondérale , Mutation avec décalage du cadre de lecture , Glycogénose de type IIb , Déficience intellectuelle , Protéine de membrane-2 associée au lysosome , Dépistage de masse , Protéines membranaires , Méthodes , Maladies musculaires , Maladies rares
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