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Liu S.G.,Qingdao University | Zhang S.S.,Weihai Wendeng Center Hospital | Zhang L.Q.,Qingdao University | Li W.J.,Qingdao University | And 7 more authors.
Journal of Endocrinological Investigation | Year: 2012

Background: Congenital hypothyroidism (CH) is a neonatal endocrine disease with an incidence of 1:2000 to 1:4000 worldwide. In about 85% of patients CH is secondary to thyroid dysgenesis, but its pathogenesis remains unclear. Thyroid transcription factors, such as paired box transcription factor 8 ( PAX8), play an important role in thyroid organogenesis and development. Aim: To screen PAX8 mutations in Chinese CH patients and characterize the features of PAX8 mutations in China. Materials and methods: Blood samples were collected from 300 CH patients in Shandong Province, China, and genomic DNA was extracted from peripheral blood leukocytes. Using PCR and direct sequencing, exon 3 and exon 4 of PAX8 were analyzed. Results: Analysis of PAX8 in 300 CH patients revealed heterozygous missense mutations or variations in two unrelated patients; one was a known missense mutation G92A, resulting in an arginine to histidine substitution at codon 31, the other was a missense variation G122T, resulting in the substitution of a glycine at position 41 by a valine residue. The patient with the R31H mutation had CH with thyroid hypoplasia, while the patient with the G41V variation had CH with a eutopic and normal-sized thyroid gland. Conclusion: We report a heterozygous missense mutation and a variation in PAX8 in two out of 300 unrelated Chinese CH patients, showing that the PAX8 mutation rate is very low in CH patients in China. ©2012, Editrice Kurtis.


Sai L.,Shandong University | Sai L.,Shandong Academy of Occupational Health and Occupational Medicine | Liu Y.,Weihai Wendeng Center Hospital | Qu B.,China Shandong Medical College | And 9 more authors.
Bulletin of Environmental Contamination and Toxicology | Year: 2015

Abstract Simazine was investigated for gene expression concurrent with simazine-induced phenotype changes during development of male Xenopus laevis. X. laevis tadpoles (Nieuwkoop-Faber stage 46) were exposed to 0.1, 1.2, 11.0 and 100.9 μg/L simazine for 100 days. The results showed that an increased mortality of X. laevis, decreased gonad weight and altered gonadosomatic index of males significantly (p < 0.05) when exposed to simazine at 11.0 and 100.9 μg/L. Significant degeneration in testicular tissues was observed when tadpoles were exposed to simazine at 100.9 μg/L. To investigate the molecular mechanisms behind the testicular degeneration by simazine, we evaluated gene expression in animals treated with 100.9 μg/L simazine and found that 1,315 genes were significantly altered (454 upregulated, 861 downregulated). Genes involved in the cell cycle control, and amino acid metabolism pathways were significantly downregulated. These results indicate that simazine affects the related gene expressions which may be helpful for the understanding of the reason for the reproductive toxicity of simazine on male X. laevis. © 2015 Springer Science+Business Media New York.


Wang J.,Qingdao University | Ma X.,Qingdao University | Qu S.,Weihai Wendeng Center Hospital | Li Y.,Qingdao University | And 5 more authors.
Experimental and Clinical Cardiology | Year: 2013

OBJECTIVES: To investigate the prevalence of subclinical thyroid dysfunction and the relationship between thyrotropin levels and cardiovascular risk factors in residents of the coastal area of China. METHODS: A total of 4256 individuals (mean [± SD] age 50.51±14.24 years; 2079 males, 2177 females,) were enrolled in the present study. Sex, blood pressure, body mass index, waist-to-hip ratio, serum levels of fasting glucose, total cholesterol, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, triglycerides, uric acid and smoking status were measured. The relationship between thyrotropin levels and cardiovascular risk factors was analyzed. RESULTS: The overall prevalence of thyroid dysfunction was 11.07%. The prevalence of subclinical hypothyroidism (6.32%) was higher than that of hyperthyroidism (1.53%). The prevalence of thyroid dysfunction among female subjects was higher than that among male subjects (16.54% versus 5.34%, respectively; P<0.001). Significant differences were detected with respect to body mass index (P=0.026), waist-to-hip ratio (P<0.001), fasting glucose levels (P=0.001), total cholesterol levels (P=0.013), triglyceride levels (P=0.003) and smoking status according to different thyrotropin levels. CONCLUSION: The prevalence of thyroid dysfunction was high in residents of China's coastal area. Significant differences were detected with regard to body mass index, waist-to-hip ratio, fasting glucose levels, total cholesterol levels, triglyceride levels and smoking status according to different thyrotropin levels. ©2013 Pulsus Group Inc. All rights reserved.


Sai L.,Shandong Academy of Occupational Health and Occupational Medicine | Dong Z.,The 404th Hospital of PLA | Li L.,Shandong Academy of Occupational Health and Occupational Medicine | Guo Q.,Shandong Academy of Occupational Health and Occupational Medicine | And 10 more authors.
Chemosphere | Year: 2016

As a widely used herbicide, atrazine (AZ) has been extensively studied for its adverse effects on the reproductive system, especially feminization in male animals. However, the relationship of gene expression changes and associated toxicological endpoints remains unclear. In this study, developing Xenopus laevis tadpoles were exposed to concentration of AZ at 0.1, 1, 10 or 100 μg/L continuously. Compared with froglets in the control group, there were no significant differences in body length, body weight, liver weight and hepatosomatic index (HSI) of males in groups treated with AZ for 90 d. At 100 μg/L AZ treatment caused a significant reduction of gonad weight and gonadosomatic index (GSI) of males (p < 0.01). In addition, AZ at all dose levels caused testicular degeneration, especially in froglets from the groups with 0.1 and 100 μg/L which exhibited U-shaped dose-response trend. We further investigated the gene expression changes associated with the testicular degeneration induced by AZ. We found that the expression of 1165 genes was significantly altered with 616 upregulated and 549 downregulated compared to the expression profile of the control animals. KEGG analysis showed that genes which were significantly affected by AZ are mainly involved in arginine and proline metabolism, cell cycle, riboflavin metabolism, spliceosome, base excision repair and progesterone-mediated oocyte maturation pathway. Our results show that AZ may affect reproductive and immune systems by interference with the related gene expression changes during the male X. laevis development. The findings may help to clarify the feminization mechanisms of AZ in male X. laevis. © 2016 Elsevier Ltd.


Wang F.,Qingdao University | Lu K.,Qingdao University | Zhang S.,Weihai Wendeng Center Hospital | Liu S.,Shandong Provincial Key Laboratory of Metabolic Disease | And 2 more authors.
Clinical Endocrinology | Year: 2014

Objective The aim of this study was to screen for DUOX2, TPO and TG mutations in Chinese patients with congenital hypothyroidism (CH) and goitre and to define the relationships between DUOX2 genotypes and clinical phenotypes. Methods Blood samples were collected from 67 patients with CH and goitre in Shandong Province, China. Genomic DNA was extracted from peripheral blood leucocytes. PCR and direct sequencing were used to analyse all exons of DUOX2, TPO and TG. Detailed medical records were then collected, and the relationship between DUOX2 genotype and the clinical phenotype of CH and goitre caused by DUOX2 mutations was investigated. Results Analysis of DUOX2 revealed nine mutations, including one novel nonsense mutation (p.W734X), six novel missense mutations (p.N100D, p.S660L, p.A1131S, p.W1181G, p.A1206T and p.R1267W) and two recurrent mutations (p.R701X and p.R1110Q) in 10 patients from 10 unrelated families. Monoallelic and compound heterozygous mutations in DUOX2 were associated with permanent or transient CH. No mutation was found after screening all exons of TPO and TG. Conclusion Our study identified DUOX2 mutations in 14·9% of Chinese patients investigated with CH and goitre. Because the relationships between DUOX2 genotypes and clinical phenotypes are extremely complex, however, further studies are needed to identify more mutations in known genes which are involved in CH and goitre. © 2014 John Wiley & Sons Ltd.

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