Objective To explore the factors affecting urinary arsenic methylated metabolites in population exposed to elevated arsenic through drinking water.Methods Residents,including 73 males and 72 females,in a endemic village located in Inner Mongolia Autonomous Region where the concentration of arsenic in drinking water was 0.167 mg/L,were included in the study; moming urine samples were collected; individual height and weight were measured which could be used to calculate body mass index(BM庆) ; and smoking and drinking habit was investigated by a questionnaire survey.Urinary concentrations of inorganic arsenic (iAs),monomethylarsenic acid(MMA) and dimethylarsenic acid(DMA) were determined using high performance liquid chromatography hydride generation atomic fluorescence spectrometry (HPLC-HG-AFC).Total arsenic (T-As) level was calculated by the sum of iAs,MMA and DMA; iAs％,MMA％ and DMA％ was calculated based on iAs/T-As,MMA/T-As and DMA/T-As.One methylation ratio(PMI) and dimethyl rate(SMI) were calculated by MMA/iAs and DMA/MMA.Results SMI level of female was significantly higher than that of male [median (M) =4.18,3.38,x2 =11.219,P ＜ 0.05] ; MMA％ of female was significantly lower than that of male(M =15.1 9,18.06,x2 =9.272,P ＜ 0.05) ; DMA％ of female was significantly higher than that of male (M =65.61,59.47,x2 =11.728,P ＜ 0.05).Various forms of arsenic indexes were not affected by smoking,alcohol consumption and BMI(P ＞ 0.05).BMI was negatively correlated with MMA％,with correlation coefficient (r)-0.17 (P ＜ 0.05).Conclusions Under the same condition of arsenic exposure,arsenic methylation capacity of women is higher than that of men.Lower BMI is significantly associated with higher methylation capability of arsenic,but this correlation may be affected by other confounding factors.

Objective To investigate the diagnostic value of two-dimensional and color Doppler ultrasonngraphy on diagnosis and judgement of prednisone withdraw in patients with subacute thyroiditis.Methods Sixty-six patients with clinically proved subacute thyroiditis underwent two-dimensional and color Doppler ultrasonography before treatment of prednisone. The ultmsonographic features and bloodtlow distribution in thyroid of these patients were analyzed retrospectively. Target of prednisone withdraw was judged according to ultrasonographic images (36 eases) and clinical symptom (30 cases). Results The ultmsonographic features of subacute thyroiditis mainly presented as bilateral or unilateral diffussion or focal low echogenicity in the affected thyroid, and color Doppler ultrasonography showed the increased vascularity around the lesions. Intraarterial bloodflow feature was low velocity and low resistance pattern, prednisone withdraw was performed according to ultrasonographic images after the treatment of prednisone, then relapse rate was decreased compared with the group of clinical symptom [8.33% (3/36) vs 26.67% (8/30)] (P <0.05). Conclusion Two-dimensional and color Doppler ultrasonography is highly valuable for diagnosing and treating subacute thyroiditis.

Objective To evaluate the association between site polymorphism of glutathione S-transferase omega1 (GSTO1) gene (rs4925),arsenic (+3) methyhransferase (As3MT) gene (rs11191439) and susceptibility to endemic arsenic poisoning.Methods All related studies in published papers up to March 1,2018 on association between site polymorphism of As3MT gene,GSTO1 gene and susceptibility to endemic arsenic poisoning were collected by searching PubMed,Embase,CNKI,Wanfang and VIP database.The data were screened according to the inclusion and exclusion criteria,and extracted,the quality of included studies was evaluated.The pooled odds ratios (OR) with 95％ confidence intervals (95％CI) were calculated using Review Manager 5.3 software.Publication bias and sensitivity analysis were also assessed.Results A total of 7 case-control studies involving 989 cases and 1 212 controls were included in the Meta-analysis.Individuals carrying at least one allele A at the rs4925 locus of the GSTO1 gene might increase the risk of susceptibility to arsenic poisoning compared with individuals carrying wild homozygous type [AA + CA vs CC,OR (95％CI) =1.37 (1.13,1.65),P ＜ 0.01].There was no statistically significant relationship between susceptibility to arsenic poisoning in individuals with at least one allele C at the rs1 1191439 locus of the As3MT gene compared with individuals carrying wild homozygous type [CC + TC vs TT,OR (95％CI) =1.12 (0.69,1.81),P ＞ 0.05].Conclusions GSTO1 gene rs4925 polymorphism is significantly associated with susceptibility to arsenic poisoning,and the A allele is a risk gene for susceptibility to arsenic poisoning.The As3MT gene rs1 1191439 locus polymorphism is not associated with susceptibility to arsenic poisoning.

Objective:To investigate the role of miR-182-5p regulated primary cilia loss on migration of TPC-1 in papillary thyroid cancers(PTC).Methods:Ten cases of PTC and adjacent tissues were collected from the First Hospital of Lanzhou University, The expression of miR-182-5p in PTC tissue and TPC-1 cells was detected by qPCR, and the frequency of primary cilia was detected by immunofluorescence; Overexpressing miR-182-5p, the migrated number of TPC-1 was detected by Transwell assay; Interfering TPC-1 with siRNA-IFT88, the migrated number of TPC-1 and the frequency of primary cilia were detected, respectively.Results:Compared with control, the expression of miR-182-5p was significantly upregulated in PTC and TPC-1, the frequency of primary cilia in PTC and TPC-1 was downregulated. Overexpressing miR-182-5p increased the migrated number of TPC-1 cell and reduced the number of TPC-1 cell migration(27%, P=0.002); After siRNA-IFT88 treatment, primary cilia in TPC-1 became shorter and thinner, with a decrease in frequency( P=0.001), the migrated number of TPC-1 cell increased, and TPC-1 cell showed smaller nuclei and fewer microvilli. Conclusion:The regulation of primary cilia loss by miR-182-5p through the PI3K pathway contributes to the migration of TPC-1 cells. The loss of primary cilia has an adverse impact on the prognosis of PTC.

Objective:To investigate the detection rate and related factors of thyroid nodules in people with abnormal lipid metabolism.Methods:From September 4, 2016 to February 1, 2017, community residents living in Lanzhou City, Longnan City, Dingxi City and Linxia City of Gansu Province for more than 5 years were selected as the respondents. General data were recorded, venous blood was collected, blood lipid related biochemical indexes were detected, and thyroid ultrasound was performed. By comparing the general data and biochemical indexes, the detection of abnormal lipid metabolism and thyroid nodules were analyzed, and the risk factors of thyroid nodules in people with abnormal lipid metabolism were analyzed by logistic regression.Results:Two thousand and fifty-nine residents were included in this study (1 049 males and 1 010 females). The total detection rate of thyroid nodules was 23.17% (477/2 059). The detection rate of thyroid nodules in people with abnormal lipid metabolism [34.16%(151/442)] was significantly higher than that in people with normal lipid metabolism [20.16% (326/1 617) , P < 0.01], and the detection rate of thyroid nodules of women [43.37% (85/196) ] was higher than that of men [26.83% (66/246) , P < 0.01]. Among the people with abnormal lipid metabolism, the highest detection rate of thyroid nodules was in mixed hyperlipidemia [57.14% (16/28)], followed by hypertriglyceridemia [34.59% (92/266)]. The detection rates of thyroid nodules in the groups with elevated total cholesterol (TC) and low density lipoprotein cholesterol (LDL-C) levels [35.16% (32/91), 34.85% (23/66)] were higher than those in the marginal elevated group [27.04%(86/318), 30.42% (73/240)] and the normal groups [21.76% (359/1 650), 21.73% (381/1 753), P < 0.05]. The results of logistic regression analysis showed that the risk factors of thyroid nodules in people with abnormal lipid metabolism were increased age, elevated fasting blood glucose (FPG), elevated blood glucose 2 hours (2 h PG) after oral glucose tolerance test (OGTT) load and elevated glycosylated hemoglobin [HbA1c, odds ratio ( OR)=1.065, 1.387, 1.866, 1.384, P < 0.05]. Conclusions:The prevalence of TN is higher in populations with abnormal lipid metabolism. The control of blood sugar and blood lipid levels may play a role in the prevention of thyroid nodules.

Objective:To investigate the thyroid volume of adults in Lanzhou City, and analyze its influencing factors.Methods:In June 2016, according to the principle of multi-stage stratified cluster sampling, Han residents aged 18 and above in Chengguan, Xigu and Qilihe districts of Lanzhou City who had lived there for more than 5 years were selected as research subjects, and a portable B-ultrasound machine was used for thyroid examination. Morning urine samples of the subjects were collected to test urinary iodine; fasting venous blood samples of the subjects were collected to test serum thyroid stimulating hormone (TSH), thyroid peroxidase antibody (TPOAb), anti-thyroglobulin antibody (TgAb), blood lipids [triglycerides (TG), total cholesterol (TC), low-density lipoprotein (LDL), high-density lipoprotein (HDL)] and blood uric acid (Ua) levels. At the same time, body indexes systolic blood pressure (SP), diastolic blood pressure (DP), waist circumference, height and weight were measured, and the body mass index (BMI) was calculated. Multiple linear regression was used to analyze the influencing factors of thyroid volume.Results:A total of 1 009 subjects were included, aged (43.50 ± 15.16) years, and the thyroid volume was (8.74 ± 3.39) ml. Among them, 534 males had a thyroid volume of (9.46 ± 3.43) ml; 475 females had a thyroid volume of (7.93 ± 3.15) ml, the thyroid volume of males was larger than that of females ( t = 7.36, P < 0.01). Thyroid volume was positively correlated with age, height, weight, BMI, SP, waist circumference, LDL, Ua and TgAb ( r = 0.07, 0.23, 0.33, 0.27, 0.10, 0.27, 0.10, 0.08, 0.07, P < 0.05), and it was negatively correlated with thyroid nodules, TPOAb, TSH and urinary iodine ( r = - 0.16, - 0.07, - 0.10, - 0.08, P < 0.05). After multiple linear regression analysis, TSH, TPOAb, TgAb and thyroid nodules were included in the regression equation, and the standardized B values were - 0.135, - 0.065, 0.123 and - 0.197, respectively. Conclusions:The thyroid volume of males is larger than that of females in Lanzhou City. TSH, TPOAb, TgAb and thyroid nodules are influencing factors of thyroid volume.

Objective To explore the relationship between single nucleotide polymorphism (SNP) locus rs1058587,rs1059519 and rs1059369 polymorphisms of growth differentiation factor-15 (GDF-15)gene and susceptibility to chronic Keshan disease in Gansu Province.Methods Using the case-control study method,56 individuals with chronic Keshan disease were taken as case group,and 53 individuals without chronic Keshan disease from the same villages were selected as control group in Gansu Keshan disease areas,venous blood samples were collected,and ethylenediamine tetraacetic acid disodium salt (EDTA) was used for anticoagulation,and the samples were sent for gene sequencing.Univariate and multivariate logistic regression analyses were conducted to analyze the influence of genotypes of rs1058587,rs1059519 and rs1059369 on the prevalence of chronic Keshan disease,and the risk factors for disease were expressed as odds ratio (OR).Results The age of the 56 patients in the case group was (60.93 + 21.99) years old,15 males and 41 females;the age of the 53 residents in control group was (47.49-+ 33.61) years old,26 males and 27 females.There was no significant difference in age between the two groups (t =46.16,P ＞ 0.05);the difference in gender was statistically significant (x2=5.76,P ＜ 0.05).The differences of allele frequencies of case group and control group rs1058587 (C:36.6％,32.1％,G:63.4％,67.9％),rs1059369 (A:61.6％,72.6％,T:38.4％,27.4％) between the two groups were not significantly different (x2 =0.50,3.00,P ＞ 0.05);the differences of allele frequencies of GDF-15 rs1059319 (C:25.0％,40.6％,G:75.0％,59.4％) between the two groups were significantly different (x2 =6.01,P ＜ 0.05).The genotype frequency distribution of GDF-15 gene rs1058587,rs1059519 and rs1059369 in the case group and the control group was not significantly different between the groups (P ＞ 0.05).However,in the case group,the mutant GG frequency of rs1059519 locus was higher than wild type CC (x2 =5.33,P ＜ 0.05).In multivariate logistic regression analysis,women were 3.81 times more likely to suffer from chronic Keshan disease than men,and people aged 45 or older were 5.30 times more likely to suffer from chronic Keshan disease than those younger than 45.The heterozygous and mutant types of GDF-15 gene rs1058587 and rs1059369 were compared with wild type,and the difference was not statistically significant (ORrs1058587 =0.46,0.50,ORrs1059369 =1.30,2.59,P ＞ 0.05);there was no significant difference between the heterozygous type of GDF-15 gene rs1059519 and wild type (OR =3.34,P ＞ 0.05),and the difference between the mutant and wild type was statistically significant (OR =8.58,P ＜ 0.05).Conclusions In this study,we find women of the study population are more likely to have chronic Keshan disease than men,and aged≥45 is a risk factor for chronic Keshan disease.Genetic polymorphisms of GDF-15 gene rs1058587,rs1059369 are not associated with susceptibility to chronic Keshan disease,and a certain correlation between genetic polymorphism of rs1059519 locus and susceptibility to chronic Keshan disease.

Objective To investigate the relationship between nucleotide excision repair cross-complementing (ERCC) gene polymorphisms [single nucleotide polymorphism (SNP) sites: rs11615, rs13181, rs238406, rs6498486, rs17655] and susceptibility to endemic arsenic poisoning. Methods The study recruited 848 subjects, including 348 cases and 500 controls, from populations exposed to high arsenic levels through drinking water in northwest China, and 3 - 5 ml venous blood was collected. The genotypes were determined using polymerase chain reaction and restriction fragment length polymorphism techniques(PCR-RFLP). Logistic regression analysis was used to assess the association of genotypes with endemic arsenic poisoning. Results The polymorphisms of rs11615 (ERCC1), rs238406 (ERCC2), rs6498486 (ERCC4) and rs17655 (ERCC5) and endemic arsenic poisoning were not related(P > 0.05). Participants who carried the CC genotype or at least one C allele for the ERCC2 rs13181 had an increased risk of endemic arsenic poisoning[OR(95%CI)=1.63(1.13,2.34),1.64(1.14,2.34)]compared with wild type homozygous individuals. Conculsions There is no positive correlation between the polymorphisms of ERCC1 rs11615, ERCC2 rs238406, ERCC4 rs6498486, ERCC5 rs17655 and endemic arsenic poisoning. ERCC2 rs13181 polymorphism increases the risk of endemic arsenic poisoning.

Aromatase deficiency (AD) is a rare autosomal recessive genetic disease caused by loss-of-function mutations in aromatase gene (CYP19A1), leading to congenital estrogen deficiency syndrome. Both mothers of AD patients during pregnancy and female AD fetus show virilization, while male patients are usually diagnosed in adulthood due to continued height increase and metabolic abnormalities. In 2019, a patient with AD was admitted in the Second Xiangya Hospital. The patient was a 37-year-old adult male who continued to grow linearly after adulthood. His estradiol was below the measurable line, the follicle-stimulating hormone (FSH) increased, bone age delayed, epiphysis unfused, and the bone mass reduced. CYP19A1 gene detection showed that c.1093C>T, p.R365W was homozygous mutation. This disease is rare in clinic. Clinicians need to raise awareness of the disease for early diagnosis and treatment to improve the long-term prognosis of patients.
46, XX Disorders of Sex Development/genetics* ; Adult ; Aromatase/metabolism* ; Female ; Gynecomastia/genetics* ; Humans ; Infertility, Male ; Male ; Metabolism, Inborn Errors ; Mutation ; Pregnancy

Objective: To analyze the urinary iodine status of urban and rural residents in some areas of Gansu Province and its related influencing factors, and to provide certain references for scientific iodine intake of urban and rural residents in Gansu Province. Methods: Subjects in Gansu Province with normal thyroid function were recruited in the investigation of thyroid diseases and iodine nutritional status, conducted a questionnaire survey and measured height, weight, waist circumference, collected 1 urine sample, and tested their urinary iodine levels. The urinary iodine levels of different groups were compared based on different gender, region, age, body weight, the waist, and salt intaking. The affecting factors of urinary iodine levels were analyzed by multiple linear regression models. Results: Totally 1 964 subjects were recruited, including 1 099 males, and 865 females. The age was (41.23 ± 14.75) years old. The median urinary iodine of the selected group was 225.60 (158.80, 311.58) μg/L. The urinary iodine level of rural residents was significantly higher than that of urban residents [μg/L: 249.80 (180.58, 336.88) vs 206.25 (148.03, 280.33), Z=-8.015, P < 0.05], and there was no significant difference between the urinary iodine levels of male and female [μg/L: 222.40 (161.60, 298.90) vs 230.60 (158.00, 326.40), P > 0.05]. The composition ratio of < 100 μg/L group in rural areas was lower than that in urban areas (5.14% vs 8.27%, χ²= 7.45, P < 0.05), and the composition ratio of ≥300 μg/L group was higher than that in urban areas (34.93% vs 21.51%, χ²= 43.87, P < 0.05). The composition ratio of ≥300 μg/L group in male was lower than that in female (24.57% vs 31.21%, χ²= 10.73, P < 0.05). The multiple linear regression analysis showed that lived in rural areas, age, moderate and severe salt intaking, student, and weight were independently correlated with urinary iodine levels (β= 0.074, -0.001, 0.059, 0.034, 0.096, -0.003, P < 0.05). And the urinary iodine levels were decreased with age and weight increased (P < 0.05). Conclusions At present, the iodine nutrition level of urban and rural residents in some areas of Gansu Province is generally over the adequate level. The urinary iodine level of rural residents is higher than that of urban residents. In the future, we should pay attention to the impact of different living areas, salt intaking and body weight on urinary iodine levels to prevent thyroid diseases.