1.Effect of 17β-estradiol on proliferation of human thyroid stem cells
Shuhang XU ; Guofang CHEN ; Quanxi ZHENG ; Xiaodong MAO ; Xuqin ZHENG ; Derwahl MICHAEL ; Chao LIU
Chinese Journal of Endocrinology and Metabolism 2014;30(9):769-774
Objective To investigate the effect of 17β-estradiol on the proliferation of thyroid stem/ progenitor cells.Methods In thyroid stem/progenitor cells derived from nodular goiters,the effects of 17 β-estradiol on thyrosphere formation,estrogen receptor (ER) expression,cyclin D1 expression,and mitogen activated protein kinase (MPAK) pathway were analysed by BrdU ELISA,conventional and realtime PCR,immunofluorensence staining,and Western blot.Results 17β-estradiol induced thyrosphere formation and proliferation of thyroid stem/ progenitor cells.ER-α and ER-β were expressed in thyroid stem and progenitor cells with higher mRNA expression level of ER-α compared to differentiated thyrocytes (8.85-±0.81 vs 1.10 ±0.35,P<0.01).Stimulation by 1 mmol/L 17β-estradiol increased cyclin D1 mRNA expression and ERK phosphorylation levels,which was blocked by an ER antagonist,ICI 182780.Conclusion Estrogen stimulated the growth of stem cells derived from thyroid nodules via estrogen receptor,suggesting the relevance of increased thyroid stem cell proliferation with higher prevalence of thyroid nodules in women.
2.Gene mutations of human immunodeficiency virus drug resistance from men who have sex with men in Shanghai,2013
Jian WU ; Xuqin WANG ; Hefeng YIN ; Jialin YUAN ; Xiaolei YU ; Yanqiu ZHOU ; Min ZHENG ; Jin GAI ; Jing TAO ; Laiyi KANG
Chinese Journal of Infectious Diseases 2016;34(1):23-26
Objective To investigate the gene mutations of human immunodeficiency virus (HIV)‐1 drug resistance among anti‐retrovirus (ARV ) treated‐naive men who have sex with men (MSM ) in Shanghai to provide evidence‐based data for optimized treatment .Methods All 669 treatment‐nave cases of HIV‐1 infection identified among MSM in 2013 were recruited and their plasma was collected .RNA was extracted and amplified by nest reverse transcription‐polymerase chain reaction ,and DNA was sequenced and then phylogenetically analyzed .Finally ,subtypes were identified and drug resistance was analyzed in comparison with International HIV Drug Resistance Database .Results The pol gene fragments of 645 cases were obtained .Primary drug‐resistance rate was 2 .48% (16/645) ,including mutations conferring resistance to protease inhibitor (PI) (0 .31% ,2/645) ,nucleoside reverse transcriptase inhibitors (NRTI) (0 .16% ,1/645) ,non‐nucleoside reverse transcriptase inhibitors (NNRTI) (1 .70% ,11/645) and both NRTI and NNRTI (0 .31% ,2/645) ,respectively .Mutations conferring resistance to CRF01_AE were 12 cases (2 .99% ) ,while mutations conferring resistance to CRF07_BC and CRF_01B were 0 .61%(1/163) and 4 .65% (2/43 ) including 1 case of CRF52_01B and unidentified CRF_01B , respectively . Resistance to NNRTI in B subtype were 2 .70% (1/37) .Conclusion The prevalence of HIV‐1 drug resistance‐associated mutations among MSM in Shanghai ,2013 is still low ,but resistance to NNRTI is relatively high .CRF01_AE is the major subtype of drug resistance .It is necessary to strengthen the HIV drug resistance surveillance in MSM group in Shanghai .
3.Solitary fibrous tumor with endocrine manifestations as the first symptom: Two case reports
Yun SHI ; Kunyu LIU ; Doudou CHEN ; Min SHEN ; Xuqin ZHENG
Chinese Journal of Endocrinology and Metabolism 2020;36(11):966-969
Two cases of solitary fibrous tumor (SFT) with endocrine manifestations as the first symptom were investigated through comprehensively reviewing their medical history and clinical records. One case of recurrent giant solitary fibrous tumor of the thoracic cavity had repeated dizziness, palpitation and limb weakness for one month. The patient had hypoglycemia accompanied with significantly decreased serum insulin, and the ratio of insulin-like growth factor Ⅱ(IGF-Ⅱ) and insulin-like growth factor Ⅰ (IGF-Ⅰ) was greater than 10. Non-islet cell tumor hypoglycemia (NICTH) should be considered in the patient. Another case was found to have thyroid gland SFT and developed distant metastasis. The patient presented with hypoglycemia, hypokalemia and possible consumptive hypothyroidism. Clinicians should improve our understanding of the endocrine manifestations of the disease. SFT may occur in endocrine glands (such as thyroid), and may also present as NICTH and consumptive hypothyroidism.
4.Pedigree analysis of type Ⅳ hereditary hemochromatosis caused by c. 430A>G heterozygous mutation of SLC40A1 gene
Shuai ZHENG ; Yun SHI ; Chengcheng ZHAO ; Fan YANG ; Hongwen ZHOU ; Tao YANG ; Xuqin ZHENG
Chinese Journal of Endocrinology and Metabolism 2022;38(3):208-213
Objective:To investigate clinical phenotypes of type Ⅳ hereditary hemochromatosis caused by c. 430A>G heterozygous mutation of SLC40A1 gene and the correlation between genotype and phenotype, exploring ferritin cutoff value for screening.Methods:One case of type Ⅳ hereditary hemochromatosis with c. 430A>G heterozygous mutation in the SLC40A1 gene and 5 generations of their family lineage with a total of 47 members who were seen at the First Affiliated Hospital of Nanjing Medical University in July 2020 were studied for systematic clinical investigation. Thirty-nine surviving individuals were tested for ferritin, liver function, fasting plasma glucose (FPG), and sex hormones, and Sanger sequencing was performed to verify the mutation loci and to map the family tree. Spearman correlation analysis was used to explore the relationship between ferritin and other indicators, and receiver operating characteristic curves were used to calculate the ferritin cutoff value for screening for this genotype of hemochromatosis.Results:Ten patients with c. 430A>G heterozygous mutation in the SLC40A1 gene were identified among 39 family members, and five of them were diagnosed with hemochromatosis, presenting incomplete penetrance. The differences in levels of ferritin, aspartate aminotransferase (AST; both P<0.01) and FPG, as well as incidences of hypogonadotropic hypogonadism and arthritis (all P<0.05) between group of mutation positive and group negative were statistically significant, while the difference in alanine aminotransferase (ALT) was not. Spearman correlation analysis showed that, ferritin levels were significantly associated with ALT ( r=0.903), AST ( r=0.879), FPG ( r=0.782), and the incidences of hypogonadotropic hypogonadism ( r=0.798) and arthritis ( r=0.798; all P<0.01) in those with the c. 430A>G heterozygous mutation in the SLC40A1 gene. The ferritin cutoff value for screening of hereditary hemochromatosis with c. 430A>G heterozygous mutation in the SLC40A1 gene was 1 036.7 μg/L, with a sensitivity and specificity of 100% and 94.3%, respectively. Conclusion:The SLC40A1 gene c. 430A>G heterozygous mutation is closely associated with elevated levels of AST and FPG, increased incidences of hypogonadotropic hypogonadism and arthritis, and the ferritin cutoff value is a useful screening parameter.
5.A case report of moyamoya disease in a pedigree with glucocorticoid-remediable aldosteronism
Kunyu LIU ; Tiantian LI ; Min SUN ; Jingjing JIANG ; Hongwen ZHOU ; Xuqin ZHENG
Chinese Journal of Endocrinology and Metabolism 2023;39(2):161-164
We report a family of glucocorticoid-remediable aldosteronism (GRA). A 20-year-old man presented with early-onset hypertension accompanied by hypokalemia was admitted to our hospital. Clinical data and family history were collected. Following genetic analyses with PCR and Sanger sequencing to document the chimeric gene and crossover site, respectively, we identified CYP11B1/CYP11B2 and determined the breakpoint of unequal crossover to be located in 264-380 nucletide, which was considered as GRA. There were 4 cases of GRA in the family, the average age of onset was 28 years, and all had different degrees of hypertension. Among them, the proband′s uncle suffered from moyamoya disease and died 6 months later due to sudden cerebral hemorrhage. In order to improve the understanding of this rare disease, the pathogenesis, biochemical profiles, diagnosis and treatment of GRA were summarized and analyzed.
6.A survey on the present status of diagnosis and treatment of Graves' disease in Jiangsu province
Tiantian LI ; Xiaobai ZOU ; Hongqi FAN ; Min SUN ; Yong GU ; Jian WANG ; Dalong ZHU ; Jianhua MA ; Wei LI ; Shiwei CUI ; Xingbo CHENG ; Tao YANG ; Xuqin ZHENG
Chinese Journal of Endocrinology and Metabolism 2019;35(7):576-580
Objective To investigate the management of Graves' disease in Jiangsu province. Methods According to the 2011 management of GD survey from American Thyroid Association and the 2013 survey from European Thyroid Association, a questionnaire was designed for this survey to acquire the diagnosis, treatment, and follow-up of Graves' disease among endocrinologists from 35 tertiary hospitals in Jiangsu province. Results A total of 476 valid questionnaires were collected. For patients with symptoms of hyperthyroidism, a large majority of respondents monitored serum FT3 , FT4 , TSH, thyroid peroxidase antibody, thyroglobulin antibody, TSH receptor antibody, and finding of thyroid ultrasound, accounted for 95. 6%, 95. 0%, 95. 4%, 95. 8%, 90. 3%, 90. 5%, and 93. 9%physicians, respectively. 91.2% of physicians preferred anti-thyroid drugs as the first-line treatment, and 92. 6% of them gave priority to the use of methimazole. For the duration of anti-thyroid drugs therapy, 41.2%of endocrinologists chose 24 months, while 20% chose 18 months. When patients have moderate and active ophthalmopathy, most respondents with medium or senior professional titles preferred anti-thyroid drugs, while most resident physicians chose radioactive iodine plus corticosteroids. When pregnancy was confirmed in the patients of Graves' disease, 88% of respondents preferred propylthiouracil during the first trimester of pregnancy, and 58. 4% of them would continue propylthiouracil into the second trimester. Conclusions The mastering of basic perception of Graves' disease knowledge is satisfactory among the endocrinologists. But by comparing to the American and European survey results and related guidelines, there are still some differences in diagnosis and treatment. Therefore, physicians should notice those differences and make improvement on standardized treatment for patients to raise the response ratio while reducing the recurrent events.
7.Verification of a method for determination of tritiated water in ambient air
Hongshen DING ; Wenna LIU ; Wanbing ZHAO ; Lin ZHENG ; Xuqin ZHANG ; Weidong LIU ; Xianchen YU
Chinese Journal of Radiological Health 2024;33(2):164-169
Objective To experimentally verify the precision and accuracy of determining tritiated water in ambient air using the desiccant adsorption sampling–high temperature negative pressure desorption of liquid water (containing HTO)–liquid Scintillation counter method, and to provide technical support for developing standard methods for monitoring tritiated water in ambient air. Methods The relative standard deviation and recovery of multi-group samples were verified by collecting, testing, and analyzing environmental samples with different activity concentrations. The uncertainty of the method was evaluated, the main uncertainty components were identified, and the reliability of measurement results was analyzed. Through experimental comparison of different methods, the differences in the test results of different methods were examined. Results The relative standard deviation of multiple samples ranged from 6.7% to 7.9%, the recovery ranged from 95.7% to 97.3%, and the uncertainty was greatly affected by the sample counting rate, with no significant difference as compared to condensation sampling method. Conclusion The precision and accuracy of this method meet the requirements of environmental authorities for monitoring tritiated water in ambient air, and it can be widely used in the monitoring of tritiated water in ambient air.