Background As one of the key populations in the prevention and treatment of iodine deficiency disorders, it is important to continuously monitor the iodine nutritional level of school-age children. The current reference interval for thyroid volume in China is based on age only, without taking into account differences in individual developmental levels, and the distribution of thyroid volume may vary regionally due to economic, demographic, and environmental factors. The current reference cut-off points for thyroid volume proposed by the World Health Organization are not based on the Chinese population. Objective To understand the iodine nutritional status and distribution of thyroid volume (Tvol) among children aged 8-10 years in Huangpu District, Shanghai, China, to identify impact factors of Tvol, and to propose a reference range upper limit for local thyroid health surveillance, so as to provide a basis for goiter control and prevention. Methods Six hundred children aged 8-10 years in Huangpu District were recruited in 2017, 2020, and 2023, and body height, weight, thyroid volume, urinary iodine, and iodine content of household edible salt were determined. A multilevel model was constructed using population density and area as regional variables, and age, body surface area (BSA), and body mass index (BMI) as potential impact factors for at the individual level, to assess their effects on thyroid volume. Quantile regression of thyroid volume was performed, and the 98th percentile (P₉₈) of thyroid volume was predicted based on age and BSA. Results The iodized salt coverage in the households of surveyed children in 2017, 2020, and 2023 was 72.0%, 57.0%, and 48.0%, respectively, and the iodized salt coverage decreased by year (χ²=24.31, P<0.001). The urinary iodine level of children in 2017 was higher than that in 2020 and 2023 (χ²=18.77, P<0.001). The Tvol medians of children in 2017, 2020, and 2023 were 2.29, 2.49, and 2.97 mL, respectively, and the Tvol increased by year (χ²=60.04, P<0.001). The proportion of goiter was higher in children in 2023 than in 2017 and 2020 (χ²=6.57, P<0.05). Sex differences were not statistically significant for urinary iodine levels, thyroid volume, and goiter. The median Tvol was 2.26, 2.58, and 2.76 mL in children of 8, 9, and 10 years old respectively, and the Tvol increased with age (χ²=49.02, P <0.001). Tvol was positively correlated with age, BSA, and BMI with correlation coefficients of 0.2846, 0.3723, and 0.2950, respectively. The final quantile regression model showed that the strongest effect of BSA was associated with the 98th percentile of Tvol. Multilevel models considering population density or area as regional variables failed to achieve convergence. Conclusion To establish the upper limit of the reference interval for thyroid volume of healthy children in Huangpu District, the effects of age and BSA should be considered at the individual level, and the upper limit of the normal interval for goiter screening is suggested to be the 98th percentile value of BSA at the same age. In addition, the adaptability of population density and regional area as indicators of regional aggregation of thyroid volume distribution still needs to be further explored.

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This study reported two cases of distal 18q deletions identified through non-invasive prenatal testing (NIPT). Case 1 harbored a de novo 20.4 Mb deletion of 46, XY, del(18) (q21.32q23), classified as pathogenic according to the American College of Medical Genetics and Genomics (ACMG) guidelines. Follow-up at five years of age revealed global developmental delay, congenital heart disease, and distinct facial features. Case 2 had a 5.71 Mb paternal-origin deletion of 46,XX,del(18)(q22.1q22.2), with only mild tricuspid regurgitation detected at eight months of age. These phenotypic discrepancies demonstrated that the clinical manifestations of 18q deletion syndrome were closely associated with the size of the deleted segment and the involved critical genes. Therefore, individualized genetic counseling and long-term follow-up were necessary for the affected children.

This study reported two cases of distal 18q deletions identified through non-invasive prenatal testing (NIPT). Case 1 harbored a de novo 20.4 Mb deletion of 46, XY, del(18) (q21.32q23), classified as pathogenic according to the American College of Medical Genetics and Genomics (ACMG) guidelines. Follow-up at five years of age revealed global developmental delay, congenital heart disease, and distinct facial features. Case 2 had a 5.71 Mb paternal-origin deletion of 46,XX,del(18)(q22.1q22.2), with only mild tricuspid regurgitation detected at eight months of age. These phenotypic discrepancies demonstrated that the clinical manifestations of 18q deletion syndrome were closely associated with the size of the deleted segment and the involved critical genes. Therefore, individualized genetic counseling and long-term follow-up were necessary for the affected children.

Objective To predict the potential geographic distribution of Oncomelania hupensis in Yunnan Province using random forest (RF) and maximum entropy (MaxEnt) models, so as to provide insights into O. hupensis surveillance and control in Yunnan Province. Methods The O. hupensis snail survey data in Yunnan Province from 2015 to 2016 were collected and converted into O. hupensis snail distribution site data. Data of 22 environmental variables in Yunnan Province were collected, including twelve climate variables (annual potential evapotranspiration, annual mean ground surface temperature, annual precipitation, annual mean air pressure, annual mean relative humidity, annual sunshine duration, annual mean air temperature, annual mean wind speed, ≥ 0 ℃ annual accumulated temperature, ≥ 10 ℃ annual accumulated temperature, aridity and index of moisture), eight geographical variables (normalized difference vegetation index, landform type, land use type, altitude, soil type, soil textureclay content, soil texture-sand content and soil texture-silt content) and two population and economic variables (gross domestic product and population). Variables were screened with Pearson correlation test and variance inflation factor (VIF) test. The RF and MaxEnt models and the ensemble model were created using the biomod2 package of the software R 4.2.1, and the potential distribution of O. hupensis snails after 2016 was predicted in Yunnan Province. The predictive effects of models were evaluated through cross-validation and independent tests, and the area under the receiver operating characteristic curve (AUC), true skill statistics (TSS) and Kappa statistics were used for model evaluation. In addition, the importance of environmental variables was analyzed, the contribution of environmental variables output by the models with AUC values of > 0.950 and TSS values of > 0.850 were selected for normalization processing, and the importance percentage of environmental variables was obtained to analyze the importance of environmental variables. Results Data of 148 O. hupensis snail distribution sites and 15 environmental variables were included in training sets of RF and MaxEnt models, and both RF and MaxEnt models had high predictive performance, with both mean AUC values of > 0.900 and all mean TSS values and Kappa values of > 0.800, and significant differences in the AUC (t = 19.862, P < 0.05), TSS (t = 10.140, P < 0.05) and Kappa values (t = 10.237, P < 0.05) between two models. The AUC, TSS and Kappa values of the ensemble model were 0.996, 0.954 and 0.920, respectively. Independent data verification showed that the AUC, TSS and Kappa values of the RF model and the ensemble model were all 1, which still showed high performance in unknown data modeling, and the MaxEnt model showed poor performance, with TSS and Kappa values of 0 for 24%(24/100) of the modeling results. The modeling results of 79 RF models, 38 MaxEnt models and their ensemble models with AUC values of > 0.950 and TSS values of > 0.850 were included in the evaluation of importance of environmental variables. The importance of annual sunshine duration (SSD) was 32.989%, 37.847% and 46.315% in the RF model, the MaxEnt model and their ensemble model, while the importance of annual mean relative humidity (RHU) was 30.947%, 15.921% and 28.121%, respectively. Important environment variables were concentrated in modeling results of the RF model, dispersed in modeling results of the MaxEnt model, and most concentrated in modeling results of the ensemble model. The potential distribution of O. hupensis snails after 2016 was predicted to be relatively concentrated in Yunnan Province by the RF model and relatively large by the MaxEnt model, and the distribution of O. hupensis snails predicted by the ensemble model was mostly the joint distribution of O. hupensis snails predicted by RF and MaxEnt models. Conclusions Both RF and MaxEnt models are effective to predict the potential distribution of O. hupensis snails in Yunnan Province, which facilitates targeted O. hupensis snail control.

Objective To investigate the relationship between serum levels of thrombospondin-1(TSP-1)and thioredoxin 1(Trx1)and cognitive impairment after cerebral infarction.Methods A total of 155 patients with cerebral infarction(study group)admitted to a hospital from June 2021 to December 2022 were selected as the study objects,and were divided into normal cognitive function group(97 cases)and cognitive impair-ment group(58 cases)according to the scores of the montreal cognitive assessment scale(MoCA)after the pa-tients'condition stabilized.Another 150 healthy subjects in the same period were selected as the control group.Serum TSP-1 and Trx1 levels were detected by enzyme-linked immunosorbent assay(ELISA).Spearman analysis was used to analyze the correlation between serum TSP-1 and Trx1 levels and national in-stitutes of health stroke scale(NIHSS)score and MoCA score in patients with cerebral infarction.The predic-tive value of serum TSP-1 and Trx1 levels in cognitive impairment after cerebral infarction was analyzed by receiver operating characteristic(ROC)curve.Results Compared with the control group,the levels of serum TSP-1 and Trx1 in the study group were significantly higher,and the differences were statistically significant(P＜0.05).Compared with the normal cognitive function group,the levels of serum TSP-1 and Trx1 in the cognitive impairment group were significantly higher,and the difference was statistically significant(P＜0.05).Compared with the normal cognitive function group,the NIHSS score of the cognitive impairment group was significantly higher,and the MoCA score was significantly lower,with statistical significance(P＜0.05).Spearman correlation analysis showed that serum TSP-1 and Trx1 levels were positively correlated with NIHSS score(P＜0.05),and negatively correlated with MoCA score(P＜0.05)in patients with cerebral infarction.ROC curve analysis showed that the area under the curve(AUC)of serum TSP-1 to predict cogni-tive impairment after cerebral infarction was 0.834,and the sensitivity and specificity were 72.41％and 86.60％,respectively.Serum Trx1 level alone predicted the AUC of cognitive impairment after cerebral infarc-tion was 0.851,and its sensitivity and specificity were 70.69％and 85.57％,respectively.The AUC of the combined prediction of cognitive impairment after cerebral infarction was 0.926,which was significantly greater than that of serum TSP-1 alone(Z=3.050,P=0.002)and Trx1 alone(Z=2.846,P=0.004).Conclusion Serum TSP-1 and Trx1 levels are elevated in patients with cerebral infarction,and their levels have certain predictive value for cognitive impairment after cerebral infarction.

OBJECTIVE: To present on a prenatally diagnosed case with complex structural rearrangements of chromosome 8. METHODS: Chromosome karyotyping, chromosomal microarray analysis (CMA) and fluorescence in situ hybridization (FISH) were carried out for a fetus with increased nuchal thickness. RESULTS: The karyotype of the amniotic fluid sample showed extra materials on 8p. FISH revealed a centromeric signal at the terminal of 8p with absence of telomeric signal. CMA revealed partial deletion of 8p23.3 [(208049_2256732)×1], partial duplication of 8p23.3p23.2 [(2259519_3016818)×3], and partial duplication of 8q [8q11.1q12.2(45951900_60989083)×3]. CONCLUSION The complex structural rearrangements of chromosome 8 in this case has differed from the commonly seen inv dup del(8p).
Female ; Pregnancy ; Humans ; Chromosomes, Human, Pair 8/genetics* ; In Situ Hybridization, Fluorescence ; Gene Rearrangement ; Prenatal Diagnosis ; Centromere

Background Noise is the most common occupational hazard in the automobile manufacturing industry with the most workers exposed. Automobile manufacturing industry is a high-risk industry for noise-induced hearing loss. Objective To understand the epidemiological characteristics of noise-induced hearing loss among workers in automobile manufacturing industry and explore related influencing factors. Methods A questionnaire survey, individual noise recording, and pure tone audiometry were conducted among workers (n=656) exposed to noise from five automobile manufacturing enterprises. The data on age, sex, exposure duration, noise intensity, kurtosis, and hearing loss were obtained. The positive rates of high-frequency noise-induced hearing loss (HFNIHL) and speech-frequency noise-induced hearing loss (SFNIHL) were calculated, and each factor was compared between workers with and without HFNIHL. Chi-square test and analysis of trend were conducted among different groups of age, sex, exposure duration, A-weighted equivalent continuous sound pressure level normalized to a nominal 8-hour working day (L_Aeq,8h), and kurtosis. Logistic regression analysis was conducted to analyze the factors influencing the positive rates of HFNIHL and SFNIHL. Results The exposure rates of non-Gaussian noise was 73.6%. The positive rates of HFNIHL and SFNIHL were 32.6% (214 workers) and 6.7% (44 workers), respectively. The HFNIHL workers showed older age, higher proportion of male, longer exposure duration, higher noise intensity (L_{Aeq,8 h}), and increased kurtosis than those without HFNIHL (P<0.05). The positive rates of HFNIHL increased with the increase of age, exposure duration, L_{Aeq,8 h}, and kurtosis (\begin{document}$ {\chi ^2} $\end{document}_trend-age=49.25, P<0.001; \begin{document}$ {\chi ^2} $\end{document}_{trend-duration}=22.19, P<0.001; \begin{document}$ {\chi ^2} $\end{document}_trend-LAeq=6.91, P=0.009; \begin{document}$ {\chi ^2} $\end{document}_{trend-kurtosis}=8.56, P=0.003). The results of logistic regression showed that age (OR=2.13, 95%CI: 1.67-2.71, P<0.001), sex (OR=2.29, 95%CI: 1.44-3.62, P<0.001), exposure duration (OR=1.43, 95%CI: 1.11-1.85, P=0.006), L_Aeq,8h (OR=1.37, 95%CI: 1.08~1.76, P=0.011), and kurtosis (OR=1.37, 95%CI: 1.14-1.63, P=0.001) were factors associated with the risk of HFNIHL, while only age was associated with the risk of SFNIHL (OR=2.15, 95%CI: 1.33-3.33, P=0.001). Conclusion Workers exposed to noise in automobile manufacturing industry are at a high risk of hearing loss. Age, sex, exposure duration, L_{Aeq,8 h}, and kurtosis are key influencing factors of hearing loss.

Objective:To develop a self-made plasma quality control material for non-invasive prenatal testing (NIPT) and evaluate its performance.Methods:139 NIPT-negative maternal plasmas stored in the genetic department of Shaoxing maternal and child health hospital from January 1, 2019 to June 30, 2021 were divided into male groups (19 cases) and female groups (120 cases) according to the neonatal gender. 9360 cases from September 2020 to September 2021 were enrolled as clinical validation cases.First step, 200 μl plasma from a 47 years-old non-pregnant healthy women was used as a matrix. Different amounts (0.1, 0.2, 0.5, 2.5, and 5 μl) of positive DNA from fetal chromosome aneuploidy (T21, T18, T13) detection kit were added. The appropriate volume of positive DNA was 0.5 μl according to the test results. Second step,Plasma in male and female group was treated as matrix. 0.5 μl positive DNA was added per 205 μl. Plasma matrix from female group showed good repeatability and the sensitivity was 100%.Third step, evaluate the self-made plasma quality control material, including storage stability, matrix uniformity and repeatability, and the effect of different batch numbers of positive DNA, by calculating Z score and the CV of fetal DNA concentration (FF).Results:Plasma matrix from female group showed good repeatability and the sensitivity was 100%, while the sensitivity of male group was only 84%. The CV of FF in female matrix was 3.9% in the repetitive experiments. After adding 0.5 μl positive DNA, the mean FF of self-made positive plasma quality control was 5.63%±0.42%, Z values>6, and the CV was 7% after storage of three months. Considering the concentration variation of positive DNA in different lots, 1 μl of positive DNA should be added when the FF of positive DNA is lower than 10%.Used in 9360 clinical cases from September 2020 to September 2021, all positive plasma quality control materials showed positive results, and the positive predictive value of trisomy 21 was 100%.Conclusions:The NIPT self-made positive plasma quality control material has been successfully developed in this study. The preliminary experimental results show that it has good repeatability and stability, which is suitable for clinical application.

Background Occupational noise-induced hearing loss (NIHL) is one of the most prevalent occupational diseases in the world. With the development of industry, noise sources in the workplace have become increasingly complex. Objective To apply kurtosis-adjusted cumulative noise exposure (CNE) to assess the occupational hearing loss among furniture manufacturing workers, and to provide a basis for revising noise measurement methods and occupational exposure limits in China. Methods A cross-sectional survey was conducted to select 694 manufacturing workers, including 542 furniture manufacturing workers exposed to non-Gaussian noise, and 152 textile manufacturing workers and paper manufacturing workers exposed to Gaussian noise. The job titles involving non-Gaussian noise were gunning and nailing, and woodworking, while those involving Gaussian noise were weaving, spinning, and pulping. High frequency noise-induced hearing loss (HFNIHL) and noise exposure data were collected for each study subject. Noise energy metrics included eight-hour equivalent continuous A-weighted sound pressure level (L_{Aeq,8 h}) and CNE. Kurtosis was a noise temporal structure metric. Kurtosis-adjusted CNE was a combined indicator of noise energy and temporal structure. Results The age of the study subjects was (35.64±10.35) years, the exposure duration was (6.71±6.44) years, and the proportion of males was 75.50%. The L_{Aeq,8 h} was (89.43±6.01) dB(A). About 81.42% of the study subjects were exposed to noise levels above 85 dB(A), the CNE was (95.85±7.32) dB(A)·year, with a kurtosis of 99.34 ± 139.19, and the prevalence rate of HFNIHL was 35.59%. The mean kurtosis of the non-Gaussian noise group was higher than that of the Gaussian noise group (125.33±147.17 vs. 5.86±1.94, t=−21.04, P<0.05). The results of binary logistic regression analysis showed that kurtosis was an influential factor of workers' HFNIHL after correcting for age, exposure duration, and L_{Aeq,8 h} (OR=1.49, P<0.05). The results of multiple linear regression analysis showed that the effects of age, exposure duration, L_{Aeq,8 h}, and kurtosis on noise-induced permanent threshold shift at frequencies of 3, 4, and 6 kHz of the poor hearing ear were statistically significant (all P<0.05). The results of chi-square trend analysis showed that when CNE ≥ 90 dB(A)·year, the HFNIHL prevalence rate elevated with increasing kurtosis (P<0.05). The mean HFNIHL prevalence rate was higher in the non-Gaussian noise group than in the Gaussian noise group (31.7% vs. 22.0%, P<0.05). After applying kurtosis-adjusted CNE, the linear equation between CNE and HFNIHL prevalence rate for the non-Gaussian noise group almost overlapped with that for the Gaussian noise group, and the mean difference in HFNIHL prevalence rate between the two groups decreased from 9.7% to 1.4% (P<0.05). Conclusion Noise kurtosis is an effective metric for NIHL evaluation. Kurtosis-adjusted CNE can effectively evaluate occupational hearing loss due to non-Gaussian noise exposure in furniture manufacturing workers, and is expected to be a new indicator of non-Gaussian noise measurement and assessment.