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Li M.,Xian Jiaotong University | Liu B.,Childrens Hospital of xiAn | Li L.,Xian Jiaotong University | Zhang C.,Xian Jiaotong University | Zhou Q.,Xian Jiaotong University
Journal of Human Genetics | Year: 2015

Although the connection between SEPS1 gene variants and Hashimoto's thyroiditis (HT) has been established in Europeans, the relationship between the SEPS1 gene and HT remains unclear in Han Chinese. Here we aimed to investigate the potential association between SEPS1 variants and HT in the Han population. In addition, the effects of SEPS1 haplotypes on the susceptibility of the development of immune-mediated diseases with an inflammatory component will also be evaluated. Seven single-nucleotide polymorphisms (SNPs) with minor allele frequency ≥0.05 were genotyped in 1013 HT patients and 2998 healthy controls from genetically independent Han Chinese individuals. We identified that the rs28665122 SNP was significantly associated with HT, both in the female group (allelic P=0.002644 and genotypic P=0.010326) and the combined data set (allelic P=0.000518 and genotypic P=0.002731). Further analyses based on haplotypes indicated that a two-SNP haplotype (rs2009895-rs28665122) was significantly associated with HT (global P=0.0036), which was also observed in females (global P=0.0162) but not in males. Our findings provide further supporting evidence that confirms the results of previous studies, which suggested potential roles of the SEPS1 gene in the pathogenesis and etiology of HT. © 2015 The Japan Society of Human Genetics. Source


Chen Y.-L.,Affiliated Hospital of xiAn Medical College | Wang J.-L.,Childrens Hospital of xiAn | Li W.-Q.,Affiliated Hospital of xiAn Medical College
European Journal of Pediatrics | Year: 2014

Kawasaki disease (KD) is associated with the development of coronary arterial lesions (CALs) in children. We aimed to test the hypothesis that circulating 25-hydroxyvitamin D3 [25-(OH)D3] could be identified as a clinical parameter for predicting CALs secondary to KD in children. We enrolled 35 children with KD in the acute phase and measured serum 25-(OH)D3 levels in all of them, then followed up by echocardiography for CALs. Additionally, serum 25-(OH)D3 levels were obtained in 23 febrile children with respiratory tract infections and 30 healthy children. Of the 35 KD children, nine had CALs according to echocardiography and 26 did not (NCALs). Serum 25-(OH)D3 levels were not significantly different between NCALs and healthy children (49.2 ± 23.8 versus 44.1 ± 30.2 ng/ml; P = 0.49). Serum 25-(OH)D3 levels were significantly higher in children with CALs than those without CALs (83.9 ± 26.3 versus 49.2 ± 23.8 ng/ml; P = 0.001). The cutoff value of 65 ng/ml to predict subsequent CALs had a specificity of 0.73, sensitivity of 0.78, and diagnostic accuracy of 0.74. Conclusion: Serum 25-(OH)D3 levels were elevated dur-ing the acute phase in KD children who had subsequent CALs. Serum 25-(OH)D3 levels in the acute phase of KD may be used to predict subsequent CALs. © 2014, The Author(s). Source


Zhang Y.,University of Cambridge | Zhang Y.,University of Manchester | Wang J.,Childrens Hospital of xiAn | Chang S.,Xian Jiaotong University | And 8 more authors.
Pediatric Cardiology | Year: 2014

Mutations of the SCN5A gene are associated with several arrhythmic syndromes including the Brugada syndrome, conduction disease, long QT syndrome type 3 (LQT3), atrial fibrillation, and dilated cardiomyopathy. We report LQT3 associated with an A1180V cardiac sodium channel mutation, previously associated with cardiac conduction block, and dilated cardiomyopathy in three generations of a Chinese family. Clinical, electrocardiographic (ECG), and echocardiographic examination was followed by direct sequencing of SCN5A and HERG to screen genomic DNA from blood samples. The proband presented with multiple syncopes from the age of 7 years and was found to share a mutation with two other members of his family. Continuous ECG monitoring after presentation showed prolonged QTc and biphasic T waves, multiple episodes of ventricular tachycardia and torsades de pointes. The other two mutation carriers showed ECG features of LQT3 without clinical symptoms. Transthoracic echocardiography showed normal cardiac structure in all three mutation carriers. This study shows LQT3 features associated with an A1180V cardiac sodium channel mutation, expanding the spectrum of phenotypes resulting from this mutation in which biophysical study has shown a persistent late Na+ current. © 2013 Springer Science+Business Media New York. Source


Xin L.-H.,Childrens Hospital of xiAn | Wang J.,Childrens Hospital of xiAn | Wang Z.,Childrens Hospital of xiAn | Cheng W.,Childrens Hospital of xiAn | Zhang W.,Childrens Hospital of xiAn
Chinese Journal of Contemporary Pediatrics | Year: 2014

Objective: To investigate the effect of Mycoplasma pneumoniae (MP) infection on the function of T lymphocytes in the bronchoalveolar lavage fluid (BALF) of asthmatic children in acute and stable periods and the relationship between MP infection and asthma. Methods: Seventy-one hospitalized children (with bronchitis, pneumonia, and asthma) were divided into non-MP infection control group (group A, pneumonia and bronchitis without MP infection), non-MP infection asthma group (group B), and MP infection asthma group (group C). Flow cytometry was used to determine CD3+, CD4+, and CD8 + T cell counts and CD4+/CD8+ ratio in BALF among all children in acute and stable periods. Results: Compared with group A, groups B and C showed significant differences in CD3+, CD4 +, and CD8+ T cell counts and CD4+/CD8 + ratio (P<0.05) in acute and stable periods, had decreased CD3+ and CD4+ T cell counts, an increased CD8+ T cell count, and a significantly decreased CD4+/CD8+ ratio (P<0.05) in the acute period, and had decreased CD3+ and CD4+ T cell counts and CD4+/CD8+ ratio and an increased CD8+ T cell count (P<0.05) in the stable period. Compared with group B, group C had significantly decreased CD3+ and CD4+ T cell counts and CD4+/CD8+ ratio (P<0.05) and a significantly increased CD8+ T cell count (P<0.05) in the acute period and showed no significant differences in CD3+, CD4+, and CD8+ T cell counts (P>0.05) and a significant decrease in CD4+/CD8+ ratio (P<0.05) in the stable period. Conclusions: The immunological function of T lymphocytes in the airway declines significantly among asthmatic children with MP infection in acute and stable periods, leading to immue system disorder. MP may be associated with the pathogenesis of asthma. Source

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