1.Clinical efficacy analysis of seven pediatric patients with Acute myeloid leukemia and the t(16;21)(p11;q22) FUS::ERG fusion gene.
Lihuan SHI ; Shan HUANG ; Xing XIE ; Pengkai FAN ; Haili GAO ; Yanna MAO
Chinese Journal of Medical Genetics 2026;43(2):90-95
OBJECTIVE:
To analyze the clinical characteristics, treatment, and prognosis of seven pediatric patients with Acute myeloid leukemia (AML) positive for the t(16;21)(p11;q22) FUS::ERG fusion gene.
METHODS:
A retrospective analysis was carried out on the clinical data, treatment, and prognosis of seven AML patients with t(16;21)(p11;q22) FUS::ERG fusion gene admitted to Henan Children's Hospital between June 2015 and November 2024. Relevant literature was also reviewed. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: 2024-102-001).
RESULTS:
Among 297 pediatric patients with AML, 7 cases (2.36%) were positive for the t(16;21)(p11;q22) FUS::ERG fusion gene, including 3 males and 4 females, with a median age of 11 years (range: 3 ~ 12 years). According to the FAB classification, these included 1 case of M2, 3 cases of M5, and 3 cases of AML-not otherwise specified (non-M3). All 7 patients were found to harbor the t(16;21)(p11;q22) translocation, with 3 cases showing additional chromosomal abnormalities. Immunophenotyping revealed universal expression of CD13, CD33, CD34, and CD117, with partial expression of CD56, CD4, CD64, CD123, CD15, CD38, CD11b, HLA-DR, cMPO, and CD16. One patient achieved complete remission (CR) after the first course of DAE (cytarabine + daunorubicin + etoposide) induction chemotherapy but relapsed and discontinued the treatment. Six patients received DAH (cytarabine + daunorubicin + homoharringtonine) induction therapy, of whom 2 achieved CR after two courses and underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT), resulting in an overall CR rate of 42.86%. Five children did not receive allo-HSCT and had a median overall survival of 9 months (range: 6 ~ 18 months). Two children who underwent transplantation achieved bone marrow morphological and molecular biological relapse at 6 and 9 months post-transplantation, respectively. After receiving combined chemotherapy and donor lymphocyte infusion, one child failed to achieve remission and died at 22 months post-transplantation, while the other has been followed up to date with positive fusion gene status. Their overall survival was 25 months and 30 months, respectively.
CONCLUSION
The t(16;21)(p11;q22) FUS::ERG fusion gene is rare in pediatric AML and associated with poor prognosis. Allo-HSCT may mitigate the adverse prognostic impact of the FUS::ERG fusion gene and contribute to prolonged survival.
Humans
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Male
;
Child
;
Female
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Leukemia, Myeloid, Acute/drug therapy*
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Oncogene Proteins, Fusion/genetics*
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Translocation, Genetic
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Retrospective Studies
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RNA-Binding Protein FUS/genetics*
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Chromosomes, Human, Pair 16/genetics*
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Adolescent
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Child, Preschool
;
Chromosomes, Human, Pair 21/genetics*
;
Prognosis
;
Treatment Outcome
2.Comparison of Wild and Cultivated Bupleurum scorzonerifolium Based on Traditional Quality Evaluation
Changsheng YUAN ; Feng ZHOU ; Xingyu LIU ; Yu SHI ; Yihan WANG ; Huaizhu LI ; Yongliang LI ; Shan GUAN ; Huaizhong GAO ; Yanmeng LIU ; Zhilai ZHAN
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(5):203-214
ObjectiveTo characterize the quality differences among different germplasm and introduced varieties of Bupleurum scorzonerifolium roots(BSR), and explore the underlying molecular mechanisms, providing a basis for high-quality production and quality control. MethodsWild BSR from Yulin(YLW) served as the quality reference, we conducted comparative analysis among YLW, locally domesticated wild germplasm in Yulin(YLC3), Daqing germplasm introduced and cultivated in Yulin(YLDQC3), and locally cultivated germplasm in Daqing(DQC3). A combination of traditional pharmacognostic methods and modern multi-omics analyses was employed, including macroscopic traits(appearance, odor), microscopic features(proportions of cork, phloem, xylem), cell wall component contents(hemicellulose, cellulose, lignin), carbohydrate contents(starch, water-soluble polysaccharides), marker compound contents(ethanol-soluble extracts, total saponins, liposoluble extracts, and saikosaponins A, B2, C, D), metabolomics, and transcriptomics, in order to systematically characterize quality differences and investigate molecular mechanisms among these samples. ResultsMacroscopically, Yulin-produced BSR(YLW, YLC3, YLDQC3) exhibited significantly greater weight, length, and upper and middle diameters than Daqing-produced BSR(DQC3). Odor-wise, YLW and YLC3 had a a fragrance taste, YLDQC3 had a rancid oil odor, and DQC3 had a sweet and fragrant taste. Microscopically, Yulin germplasm(YLW, YLC3) and Daqing germplasm(YLDQC3, DQC3) shared similar structural features, respectively. However, Yulin germplasm showed significantly higher proportions of cork and phloem, as well as stronger xylem vessel staining intensity compared to Daqing germplasm. Regarding various component contents, Yulin germplasm contained significantly higher levels of ethanol-soluble extracts, total saponins, and saikosaponins A, B2, C, D, while Daqing germplasm had significantly higher levels of hemicellulose, starch, and liposoluble extracts. After introduction to Yulin, the Daqing germplasm(YLDQC3) showed increased starch, water-soluble polysaccharides and liposoluble extracts contents, decreased cell wall component content, but no significant difference in other component contents. Metabolomics revealed that saponins and terpenes accumulated significantly in Yulin germplasm, while alcohols and aldehydes accumulated predominantly in Daqing germplasm. Transcriptomics indicated similar gene expression patterns within the same germplasm but specificity between different germplasms. Integrative metabolomic-transcriptomic analysis identified 145 potential key genes associated with the saikosaponin biosynthesis pathway, including one acetyl-coenzyme A(CoA) acetyltransferase gene(ACAT), one 3-hydroxy-3-methylglutaryl-coenzyme A synthase gene(HMGS), two hydroxymethylglutaryl-CoA(HMG-CoA) reductase genes(HMG), one phosphomevalonate kinase gene(PMK), one 1-deoxy-D-xylose-5-phosphate synthase gene(CLA), one hydroxymethylbuten-1-aldol synthase gene(HDR), two farnesyl pyrophosphate synthase genes(FPPS), one squalene synthase gene(SQS), one β-amyrin synthase gene(BAS), 102 cytochrome P450(CYP450) gene family members, and 32 uridine diphosphate-glucuronosyltransferase(UGT) gene family members. ConclusionAmong the three cultivated types, YLC3 most closely resembles YLW in appearance, microscopic features, contents of major bioactive constituents, metabolomic and transcriptomic profiles. Yulin germplasm exhibits superior saponin synthesis capability compared to Daqing germplasm, and Yulin region is more suitable for the growth of B. scorzonerifolium. Based on these findings, it is recommended that artificial cultivation in northern Shaanxi and similar regions utilize the local Yulin germplasm source cultivated for at least three years.
3.A near-complete genomic analysis of aggregated outbreaks of norovirus subtype GⅡ.17P17 in Beijing Chaoyang District from 2014 to 2024
Xiangyu HU ; Jianhong ZHAO ; Shan WANG ; Xiao QI ; Taoli HAN ; Yanhui YANG ; Yan GAO ; Shi CONG ; Lijiao CAO ; Lingli SUN ; Miao JIN ; Yang JIAO
Chinese Journal of Preventive Medicine 2025;59(5):640-649
Objective:To examine the near-complete genomic analysis of norovirus (NoV) subtype GⅡ.17 [P17] outbreaks in Beijing Chaoyang District from 2014 to 2024.Methods:Data and specimens related to outbreaks of the NoV aggregation in Beijing′s Chaoyang District from 2014 to 2024 were collected. The NoV was identified using real-time fluorescence reverse transcription polymerase chain reaction (RT-PCR). Specimens with positive nucleic acid were amplified by standard PCR, whole genome sequencing and evolutionary analysis. Amino acid site variations were compared.Results:In Chaoyang District, from 2014 to 2024, a total of 637 aggregated outbreaks caused by the NoV infection were reported, of which 584 were successfully typed. The epidemic caused by the GⅡ.17 [P17] subtype accounted for 8.79% (56/637), which was the dominant epidemic gene subtype in 2014-2015, sporadic in 2016-2019, reappeared in 2022, and significantly increased in 2024 (27.27%, 24/88). Outbreaks caused by the GⅡ.17 [P17] subtype occurred mainly from October to December, with the main sites of occurrence in primary schools and kindergartens. This study yielded 53 near-complete genome sequences of the GⅡ.17 [P17] subtype from 46 incidents in Chaoyang District. The GⅡ.17 [P17] subtype sequences of Chaoyang District from 2014 to 2024 were segmented into three subgroups on the evolutionary tree, with sequences from 2014 to 2019, 2022 to April 2024, and May to December 2024 clustered into the d, e, and b subgroups, respectively. In the VP1 region′s P2 area, particularly at the HBGA binding site, subgroups b and e exhibited mutations in 22 and two sites, while subgroups b and e showed mutations in four and one sites, predominantly in the RdRp region.Conclusion:The outbreak caused by the NoV GⅡ.17 [P17] subtype in Chaoyang District from 2014 to 2024 continues, with a significant increase in 2024, and it becomes the dominant gene subtype from October to December. The sequence formation of the NoV GⅡ.17 [P17] subtype in Chaoyang District from January to April 2022 and from May to December 2024 shows two different evolutions, with specific mutation sites, requiring continuous monitoring of the NoV GⅡ.17 [P17] subtype.
4.Clinical and endoscopic features of autoimmune gastritis with gastric neoplastic lesions
Shan LEI ; Xiaogang LIU ; Yan PAN ; Caiping GAO ; Liangping LI ; Yao HU ; Pu WANG
Chinese Journal of Internal Medicine 2025;64(7):652-659
Objective:Autoimmune gastritis (AIG) is characterized by the loss of acid-secreting glands, resulting in hypochlorhydria and hypergastrinemia, conditions that significantly increase the risk of developing gastric neuroendocrine tumors (NETs) and gastric adenocarcinoma. In recent years, AIG has garnered increasing attention in both clinical and research settings. However, comprehensive studies on the clinical and endoscopic characteristics of AIG particularly cases complicated by gastric neoplastic lesions remain limited in China. This study aims to comprehensively summarize the clinical and endoscopic features of AIG and its associated gastric neoplastic lesions.Methods:A retrospective analysis was conducted using medical records from patients with AIG diagnosed at Sichuan Provincial People′s Hospital between 2019 and 2024. Data collected included demographic information, medical history, serological test results, imaging findings, and endoscopic observations. The clinical and endoscopic features of AIG patients with gastric NETs or epithelial-derived tumors were compared to those without gastric neoplastic lesions to identify potential risk factors and diagnostic indicators for tumor development in AIG.Results:A total of 72 patients with AIG were included, of whom 62.5% (45/72) were female, with an age range of 30 to 79 years old (mean age: 57±11 years). Parietal cell antibody (PCA) positivity was observed in 93.1% (67/72), intrinsic factor antibody (IFA) positivity in 45.8% (33/72), and Helicobacter pylori ( H. pylori) co-infection in 48.6% (35/72). Endoscopically, 84.7% (61/72) showed prominent corpus-dominant advanced atrophy; 47.2% (34/72) had sticky adherent mucus; and 41.7% (30/72) displayed residual oxyntic mucosa in the gastric body or fundus. Only 23.6% (17/72) had normal antrum mucosa, and just 16.7% (12/72) showed a circular wrinkle-like pattern. Gastric neoplastic lesions were identified in 35 patients (48.6%), including 15 cases (20.8%) with NETs and 20 cases (27.8%) with epithelial-derived tumors (four adenocarcinomas, three adenomas, and 13 cases of intraepithelial neoplasia). No significant differences were found between tumor and non-tumor groups in terms of age, gender, PCA/IFA positivity, gastrin levels, anemia status, folic acid, or serum iron levels. However, patients with NETs had significantly lower vitamin B 12 levels compared to those without tumors (183±111 ng/L vs. 323±159 ng/L, t=2.47, P=0.042). Additionally, AIG patients with NETs were more likely to be H.pylori-negative compared to both the non-tumor group (66.7% vs. 35.1%, χ2=5.26, P=0.072) and the epithelial-derived tumor group (66.7% vs. 30.0%, χ2=5.80, P=0.055). The incidence of reverse atrophy in the epithelial-derived tumor group was significantly lower than that in the non-tumor group (65.0% vs. 91.9%, χ2=6.49, P=0.011) and the NETs group (65.0% vs. 93.3%, χ2=3.90, P=0.048).? Conclusion:In AIG patients with NETs, serum vitamin B 12 levels are significantly reduced, suggesting that vitamin B 12 deficiency may be a key risk factor or clinical indicator for NET development in AIG. Furthermore, NETs are more frequently observed in AIG patients without H.pylori infection, while epithelial-derived tumors are more commonly associated with H.pylori co-infection.
5.Effect of overweight/obesity on female ART outcomes and its mechanisms
Siru HOU ; Shanshan WU ; Siwen ZHANG ; Shan GAO ; Jichun TAN
Chinese Journal of Reproduction and Contraception 2025;45(6):632-636
In recent years, the incidence of infertility has been steadily increasing. Obesity, recognized as a chronic inflammatory condition, can not only lead to various chronic diseases such as hypertension and diabetes, but also adversely affects female reproductive health,including rare ovulation, anovulation, menstrual irregularities, and even infertility. The reproductive outcomes of overweight/obese women are not optimistic even among people undergoing assisted reproductive technology (ART).However, the mechanisms of overweight and obesity on ART outcomes remain poorly understood. This review aims to summarize current evidence on the impact of overweight and obesity on ART outcomes in women and explore the potential mechanisms.
6.Relationship between Peripheral Blood MiR-21 and Very Early Relapse after Chemotherapy in Children with Acute Lymphoblas-tic Leukemia
Le CHEN ; Yan WANG ; Cheng-Jiao HUANG ; Wan-Long YIN ; Shan GAO
Journal of Experimental Hematology 2025;33(6):1592-1598
Objective:To analyze the relationship between microRNA-21(miR-21)expression and the risk of very early relapse post-induction chemotherapy in children with acute lymphoblastic leukemia(ALL).Methods:A total of 110 newly diagnosed children with ALL admitted to Huanggang Central Hospital from March 2020 to September 2022 were included.All patients received induction chemotherapy according to the CCLG-2008 protocol.The patients who achieved complete response(CR)after induction chemotherapy were followed up for 18 months,with very early relapse as the endpoint event.Then the patients were divided into a relapse group and a non-relapse group.Cox regression was used to analyze the influencing factors of very early relapse after induction chemotherapy in children with ALL.ROC curve and decision curve were used to evaluate the predictive value of peripheral blood miR-21 for very early relapse after induction chemotherapy in children with ALL.Restricted cubic splines were used to analyze the dose-response relationship between peripheral blood miR-21 and very early relapse after induction chemotherapy in children with ALL.Results:A total of 102 children with ALL achieved CR after induction chemotherapy,among whom 24 cases(23.53%)experienced very early relapse,with a median relapse time of 14 months.The proportions of patients with high-risk stratification at initial diagnosis,extramedullary infiltration,and minimal residual disease(MRD)positivity were significantly higher in the relapse group than those in the non-relapse group;The absolute lymphocyte count(ALC)in peripheral blood was significantly lower,while the expression levels of miR-21 and lactate dehydrogenase(LDH)were significantly higher in the relapse group compared with the non-relapse group(all P<0.05).Cox regression analysis showed that very early relapse after induction chemotherapy in children with ALL was associated with medium risk and high risk at initial diagnosis,extramedullary infiltration,decreased ALC in peripheral blood,MRD positivity,as well as high expression levels of miR-21 and LDH(all P<0.05).ROC curve analysis indicated that the area under the curve(AUC)of peripheral blood miR-21 for predicting very early relapse after induction chemotherapy in children with ALL was 0.800,with an optimal cutoff value of 4.830.Restricted cubic spline analysis revealed that there was a non-linear dose-response relationship between peripheral blood miR-21 and the risk of very early relapse after induction chemotherapy in children with ALL.When the expression level of peripheral blood miR-21 exceeded 4.830,the risk of very early relapse increased with the elevation of miR-21 expression.Decision curve analysis demonstrated that combining peripheral blood miR-21 with other risk factors enhanced the predictive performance for the risk of very early relapse after induction chemotherapy in children with ALL.Conclusion:Very early relapse after induction chemotherapy in children with ALL is associated with elevated expression of miR-21 in peripheral blood,and high expression of miR-21 may increase the risk of very early relapse.Detecting miR-21 before induction chemotherapy has predictive significance for very early relapse in children with ALL,and combining it with other risk factors can improve the predictive efficacy.
7.Effect of Graft Composition on Viral Infection and Survival after Allogeneic Hematopoietic Stem Cell Transplantation
Fan LIU ; Shan WANG ; Qiu-Juan ZHU ; Tao WANG ; Wei-Wei TIAN ; Rong GONG ; Zhi-Lin GAO
Journal of Experimental Hematology 2025;33(6):1803-1808
Objective:To investigate the effect of infusing different doses of graft cells on viral infections and survival after allogeneic hematopoietic stem cell transplantation(allo-HSCT).Methods:Clinical data of 99 patients with hematological diseases who underwent allo-HSCT in Shanxi Bethune Hospital were retrospectively analysed.The proportion of mononuclear cells(MNC)was counted microscopically,the proportions and absolute counts of CD34+cells and lymphocyte subsets(including CD3+T,CD4+T,CD8+T,CD4+CD8+T,B,and NK cells)were detected by flow cytometry,and the infusion dose of each cell types was calculated.The patients were divided into high-dose group and low-dose group based on the median value of the infused cell dose.The effects of different doses of various graft cells on post-transplant viral infections(CMV,EBV,BKV)and survival were analyzed.Results:The low-dose MNC(<7.97 × 108/kg)and high-dose CD4+CD8+T cell(≥3.02 × 106/kg)groups had a higher Epstein-Barr virus(EBV)infection rate(P=0.031;P=0.020).The high-dose CD34+cell group and low-dose CD3+T,CD8+T and natural killer(NK)cell groups showed a trend toward higher EBV infection rates,but the differences were not statitsically significant(P>0.05).There was no significant difference in the rates of EBV infection between the high-dose and low-dose groups of CD4+T and B cells(P>0.05).Multivariate analysis revealed that the doses of MNC and CD4+CD8+T cells in the graft were independent factors influencing EBV infection(P=0.023;P=0.016).The doses of cells in the graft showed no significant impact on CMV and BKV infection,or patient survival(P>0.05).Conclusion:Infusing a lower dose of MNC and a higher dose of CD4+CD8+T cells increases the risk of EBV infection,but does not affect the survival outcome.
8.Construction and Evaluation of Maternal Mortality Prediction Model in Yunnan Province
Shan ZHAO ; Sai GAO ; Tangchun LI ; Zhongming ZHAO ; Yating WU ; Min ZHENG
Journal of Kunming Medical University 2025;46(2):110-117
Objective To construct and evaluate the prediction model of maternal mortality in Yunnan Province,and predict the maternal mortality rate in Yunnan Province from 2024 to 2030.Methods Based on the maternal mortality rates in Yunnan Province from 1994 to 2023,a grey prediction model and a autoregressive integrated moving average model were constructed,The models were compared using mean absolute error,mean square error and root mean square error to assess their fitting performance,and the optimal model was used to predict the maternal mortality rate in Yunnan Province from 2024 to 2030.Resuls The maternal mortality rate in Yunnan Province showed a continuous decline from 1994 to 2023(χ2=50 170.0,P<0.05).The mean absolute error,mean-square error and root mean-square error for the grey prediction model were 2.424,12.389,3.519,respectively,while for the differential autoregressive moving average model,they were 3.966,27.651,5.258,respectively.The prediction effect of the grey prediction model is superior to that of the autoregressive integrated moving average model,with a posterior difference ratio C=0.079 and a low probability error P=1,indicating a prediction accuracy of level 1.Using the grey prediction model,the maternal mortality rates for Yunnan Province from 2024 to 2030 are 10.05/100 000,9.16/100 000,8.34/100 000,7.59/100 000,691/100 000,6.30/100 000 and 5.73/100 000,respectively.Conclusion The grey prediction model has a good prediction effect on maternal mortality in Yunnan Province.It is predicted that the maternal mortality rate in Yunnan Province in 2030 can meet the control targets outlined in the"Healthy China 2030 Plan",the"Outline of Chinese Women's Development(2021-2030)"and the"Yunnan Women's Development Plan(2021-2030)".
9.Development and accuracy evaluation of a photogrammetry-based extraoral scanning system for edentulous implant placement
Yongtao YANG ; Aonan WEN ; Xiangyi SHANG ; Shenyao SHAN ; Wenbo LI ; Qingzhao QIN ; Zixiang GAO ; Yujia ZHU ; Yong WANG ; Yijiao ZHAO
Chinese Journal of Stomatology 2025;60(8):863-870
Objective:To evaluate the accuracy of a self-developed extraoral scanning system based on photogrammetry technology, and to provide evidence for advancing the development and clinical application evaluation of domestically produced scanning devices.Methods:This research group developed a photogrammetry-based implant extraoral scanning system with customized scan bodies. Two distinct edentulous implant resin models were designed and three-dimensional (3D)-printed by Center of Digital Dentistry, Peking University School and Hospital of Stomatology, containing 6 (Model 1) and 8 (Model 2) abutment analogs respectively. Reference data acquisition was performed using a high-precision denture 3D scanner with scan caps mounted on the analogs. Specialized scan bodies were then mounted on the analogs for 3D positional data acquisition using both the self-developed system (experimental group) and the clinically established system (control group). Each system conducted 10 repeated scans per model. Trueness was assessed through root mean square error (RMSE), linear deviation (LD), and angular deviation (AD) relative to reference data, while precision was determined through intra-group RMSE analysis. Systematic comparisons included inter-group performance on identical models and intra-group variability across different models.Results:For Model 1, the experimental group showed statistically significant advantages over controls in intra-group RMSE [(3.10±0.71) μm vs (4.61±1.51) μm, P<0.001], reference-data RMSE [(21.48±0.60) μm vs (32.50±0.63) μm, P<0.001], linear deviation [23.64 (32.35) μm vs 44.86 (55.73) μm, P<0.001], and angular deviation [0.29° (0.29°) vs 0.23° (0.33°), P<0.001]. In Model 2, significant improvements were observed in intra-group RMSE [(4.47±1.58) μm vs (6.21±2.07) μm, P<0.001], reference-data RMSE [(38.84±0.86) μm vs (43.69±1.34) μm, P<0.001], and linear deviation [37.95 (50.68) μm vs 49.71 (58.89) μm, P<0.001]. Both groups exhibited model-dependent variability, with RMSE of precision and trueness of both groups, linear deviation of experimental group, angular deviation of control group showing statistically significant increases (all P<0.001) corresponding to abutment analog quantity. Conclusions:The self-developed scanning system demonstrates superior accuracy in 3D positional acquisition of abutment analogs compared to the contral group system, with implant number identified as a critical determinant of extraoral scanning accuracy.
10.Cost-Effectiveness of Inclisilan Injection in Patients with Atherosclerotic Cardiovascular Disease
Bing FENG ; Ning GAO ; Shengnan GAO ; Mengna NIU ; Shan GUO ; Guoqiang LIU
Herald of Medicine 2025;44(3):466-472
Objective To evaluate the cost-effectiveness of inclisiran injection treatment in patients with atherosclerotic heart disease(ASCVD)in China.Methods From the perspective of China's health system,according to the Markov model,patients with ASCVD were divided into inclisilan injection group and placebo group,and both groups were treated with convention-al lipid-lowering drugs.The study period was 25 years.The rate parameters,cost parameters,and effectiveness parameters were de-rived from the ORION-18 trial and other literature.Effects were expressed as quality-adjusted life-years(QALYs).The incremental cost-effectiveness ratio(ICER)was used to evaluate the economy of inclisilan injection.One-way sensitivity analysis and probabil-ity sensitivity analysis were used to verify the reliability of the results.Results The treatment effect of the inclisilan injection group was higher(10.02 QALYs),and the cost of the placebo group was lower(255 179 yuan).The ICER of the two groups was 137 850 yuan per QALY gained,and using 257 094 yuan per capita by 2022 as the threshold,the treatment would be economically advantageous.Sensitivity analysis supported this result.Conclusion At present,the additional use of inclisilan injection can get a better treatment effect,and it has economic advantages under the threshold of three times GDP per capita in China.

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