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  • Author: Jie Xu x
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Mengxue Yang Department of Endocrinology, The Fifth People’s Hospital of Shanghai, Fudan University, Shanghai, China
Department of Endocrinology, Zunyi Medical University, Zunyi, China

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Bowen Sun Department of Endocrinology, Zunyi Medical University, Zunyi, China

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Jianhui Li Department of Endocrinology, Ningbo No. 2 Hospital, Ningbo, China

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Bo Yang Department of Endocrinology, Zunyi Medical University, Zunyi, China

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Jie Xu School of Public Health, Zunyi Medical University, Zunyi, China

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Xue Zhou Department of Endocrinology, Zunyi Medical University, Zunyi, China

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Jie Yu School of Public Health, Zunyi Medical University, Zunyi, China

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Xuan Zhang Department of Endocrinology, Zunyi Medical University, Zunyi, China

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Qun Zhang Department of Endocrinology, Ningbo No. 2 Hospital, Ningbo, China

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Shan Zhou Department of Endocrinology, Ningbo No. 2 Hospital, Ningbo, China

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Xiaohua Sun Department of Endocrinology, Ningbo No. 2 Hospital, Ningbo, China

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Objectives

The pathogenesis of Graves’ disease (GD) remains unclear. In terms of environmental factors, GD development may be associated with chronic inflammation caused by alteration of the intestinal flora. This study explored the association of intestinal flora alteration with the development of GD among the Han population in southwest China.

Design and methods

Fifteen GD patients at the Affiliated Hospital of Zunyi Medical College between March 2016 and March 2017 were randomly enrolled. Additionally, 15 sex- and age-matched healthy volunteers were selected as the control group during the same period. Fresh stool samples were collected, and bacterial 16S RNA was extracted and amplified for gene sequencing with the Illumina MiSeq platform. The sequencing results were subjected to operational taxonomic unit-based classification, classification verification, alpha diversity analysis, taxonomic composition analysis and partial least squares-discriminant analysis (PLS-DA).

Results

The diversity indices for the GD group were lower than those for the control group. The GD group showed significantly higher abundances of Firmicutes, Proteobacteria and Actinobacillus and a higher Firmicutes/Bacteroidetes ratio than the control group. PLS-DA suggested the satisfactory classification of the flora between the GD group and the control group. The abundances of the genera Oribacterium, Mogibacterium, Lactobacillus, Aggregatibacter and Mogibacterium were significantly higher in the GD group than in the control group (P < 0.05).

Conclusions

The intestinal flora of GD patients was significantly different from that of the healthy population. Thus, alteration of intestinal flora may be associated with the development of GD.

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Zi-Di Xu Department of Pediatric Endocrinology, Genetic and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China

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Wei Zhang Department of Children Health Care, Xiamen Maternal and Child Health Hospital, Xiamen, China

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Min Liu Department of Pediatric Endocrinology, Genetic and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China

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Huan-Min Wang Department of Surgical Oncology, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China

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Pei-Pei Hui Department of Pediatric Endocrinology, Genetic and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China

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Xue-Jun Liang Department of Pediatric Endocrinology, Genetic and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China

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Jie Yan Department of Pediatric Endocrinology, Genetic and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China

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Yu-Jun Wu Department of Pediatric Endocrinology, Genetic and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China

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Yan-Mei Sang Department of Pediatric Endocrinology, Genetic and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China

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Cheng Zhu Department of Pediatric Endocrinology, Genetic and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China

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Gui-Chen Ni Department of Pediatric Endocrinology, Genetic and Metabolism, Beijing Children’s Hospital, Capital Medical University, National Center for Children’s Health, Beijing, China

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This study aims to summarize and analyze the clinical manifestations, genetic characteristics, treatment modalities and long-term prognosis of congenital hyperinsulinemia (CHI) in Chinese children. Sixty children with CHI, who were treated at Beijing Children’s Hospital from January 2014 to August 2017, and their families, were selected as subjects. The CHI-related causative genes in children were sequenced and analyzed using second-generation sequencing technology. Furthermore, the genetic pathogenesis and clinical characteristics of Chinese children with CHI were explored. Among the 60 CHI children, 27 children (27/60, 45%) carried known CHI-related gene mutations: 16 children (26.7%) carried ABCC8 gene mutations, seven children (11.7%) carried GLUD1 gene mutations, one child carried GCK gene mutations, two children carried HNF4α gene mutations and one child carried HADH gene mutations. In these 60 patients, eight patients underwent 18F-L-DOPA PET scan for the pancreas, and five children were found to be focal type. The treatment of diazoxide was ineffective in these five patients, and hypoglycemia could be controlled after receiving partial pancreatectomy. In conclusion, ABCC8 gene mutation is the most common cause of CHI in Chinese children. The early genetic analysis of children’s families has an important guiding significance for treatment planning and prognosis assessment.

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