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1.
Chinese Journal of Applied Clinical Pediatrics ; (24): 851-854, 2022.
Artículo en Chino | WPRIM | ID: wpr-930532

RESUMEN

Objective:To investigate the correlation between serum indexes of children with simple obesity in Xinjiang area and the renin-angiotensin-aldosterone (RAS)system, thus providing evidence to clarify the pathogenesis of childhood obesity.Methods:It was a cross-sectional study involving 41 children with simple obesity (case group) and 41 age-matched healthy children (control group) through the cluster random sampling in Tacheng area of Xinjiang.The mean age of in both groups was (10.04±1.66) years and (10.12±1.68) years, respectively.Serum adipokines, insulin level and RAS indexes between groups were compared by the Student′s t test.The correlation between serum adipokines and RAS activity in children with simple obesity was assessed by the Pearson′ s correlation test. Results:The serum adiponectin(APN) level[(7.90±1.96) μg/L vs.(8.87±1.61) μg/L, P=0.017]was significantly lower in case group than that of control group, while leptin[(6.81±1.88) ng/L vs.(5.87±1.79) ng/L, P=0.023]and resistin levels[(12.61±3.63) ng/L vs.(10.18±3.07) ng/L, P=0.002] were significantly higher.RAS indexes, including the renin[(35.78±10.08) ng/L vs.(29.24±10.69) ng/L, P=0.007], aldosterone (ALD)[(106.90±20.18) ng/L vs.(97.68±17.60) ng/L, P=0.028] and angiotensin-Ⅱ (Ang-Ⅱ)[(55.65±10.37) ng/L vs.(48.78±9.26) ng/L, P=0.002] levels were significantly higher in case group than those of control group.In the case group, serum APN level was negatively correlated with renin, ALD and Ang-Ⅱ levels ( r=-0.646, -0.752, -0.839, all P<0.001), while serum leptin and resistin levels were positively correlated with renin, ALD and Ang-Ⅱ levels ( r=0.940, 0.871, 0.875; 0.877, 0.892, 0.914, all P<0.001). Conclusions:Serum adipokine in school-age children with simple obesity in Xinjiang area is dysregulated, which interferes with the activity of RAS.

2.
Chinese Journal of Medical Genetics ; (6): 373-377, 2020.
Artículo en Chino | WPRIM | ID: wpr-828321

RESUMEN

OBJECTIVE@#To determine the type and carrier rate of deafness-related variants in Dongguan, China.@*METHODS@#A total of 16 182 subjects were screened. Heel blood samples were collected from newborns, while peripheral venous blood samples were collected from the remainders. For each individual, 100 variations of 18 deafness susceptibility genes were detected.@*RESULTS@#In total 1631 deafness-related variants (including 5 homozygous mutations) were detected, which gave a detection rate of 10.08%. The detection rate of SLC26A4 gene variants was the highest (845 cases, 5.22%), which was followed by GJB2 (673 cases, 4.16%), GJB3 (100 cases, 0.62%), TMC1 (12 cases, 0.07%), and MYO15A (1 case, 0.01%). The detection rate for GJB2 c.235delC variant was the highest (524 cases, 3.24%), which was followed by SLC26A4 IVS7-2A>G variant (270 cases, 1.67%). Thirty three individuals (0.20%) carried two variants at the same time, 7 of them (0.04%) carried compound heterozygous variants of the same gene.@*CONCLUSION@#To expand the range of screening can help with determination of the carrier status and provision of early intervention and genetic counseling for the examinees.


Asunto(s)
Humanos , Recién Nacido , China , Análisis Mutacional de ADN , Sordera , Genética , Genes , Asesoramiento Genético , Predisposición Genética a la Enfermedad , Pruebas Genéticas , Variación Genética , Mutación , ARN Ribosómico
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