1.Clinical characteristics and genetic analysis of Duchenne muscular dystrophy with myogenic tumors
Lifang SONG ; Li WANG ; Daoqi MEI ; Yuan WANG ; Yanli MA ; Kaili XU ; Fan WANG ; Yixin XIAN ; Xiao FENG ; Kai LIU
Chinese Journal of Neurology 2025;58(6):632-639
Objective:To investigate the clinical characteristics and genetic etiology of Duchenne muscular dystrophy (DMD) with myogenic tumors.Methods:The clinical data of 2 children with DMD combined with myogenic tumors diagnosed in Children′s Hospital Affiliated to Zhengzhou University in July 2021 and February 2022 were collected. The relevant literature was reviewed to summarize the clinical characteristics and explore the mechanism of the dystrophin ( DMD) gene in myogenic tumors. Results:A 6-year and 10-month-old boy with DMD (deletion of exon 45) and a 12-year-old boy with DMD (deletion of exon 51) were diagnosed with tumors. They were diagnosed with DMD for delayed motor development in the Department of Neurology of Children′s Hospital Affiliated to Zhengzhou University. They presented with painless masses in the waist. Postoperative pathological diagnosis: the pathology and immunohistochemistry of case 1 showed an alveolar rhabdomyosarcoma (ARMS) and both myogenin and myogenic differentiation 1 positive; the pathology and immunohistochemistry of case 2 showed an alveolar soft part sarcoma(ASPS) and transcription factor enhancer 3 positive; both cases were myogenic tumors. Literature review (including this paper) showed that there were in total 14 cases with DMD combined with myogenic tumors including 13 cases of rhabdomyosarcoma (RMS) and 1 case of ASPS. All of them are male, and the age of onset of the tumors was 4-17 years. Pathological subtypes were described in 6 cases of ARMS and 5 cases of embryonal RMS, and were not described in 2 cases. The 9 cases described all had large deletions in the DMD gene which can change the reading frame of the DMD gene, and all gene mutations did not exceed exon 62. Conclusions:DMD gene with deletion may increase the risk of having myogenic tumors, and RMS is more common, which is manifested as painless mass in early stage. All DMD gene deletions do not exceed exon 62 and lead to change of the gene reading frame with severe clinical phenotype and degenerative changes in muscle function.
2.Feature of Cardiovascular-kidney-metabolic Syndrome Among Ethnic Minorities in Yunnan,China
Nuerguli TUERDI ; Xue CAO ; Yujie ZHANG ; Zixuan DONG ; Weiping LI ; Fan LI ; Xin WANG ; Congyi ZHENG ; Yixin TIAN ; Chenye CHANG ; Xuyan PEI ; Qinglan JIA ; Jialu YANG ; Zengwu WANG
Chinese Circulation Journal 2025;40(10):1022-1029
Objectives:To investigate the epidemiological characteristics and ethnic differences of cardiovascular-kidney-metabolic syndrome(CKM)among the Hani,Dai,Bai,and Lisu populations in Yunnan Province,and to provide evidence for developing effective prevention and control strategies for CKM.Methods:A cross-sectional survey was conducted among four ethnic minority groups.A total of 3 906 permanent residents aged 18 years and older were enrolled using a multistage cluster random sampling method.CKM stages(0-4)were defined based on the 2023 American Heart Association criteria,stages 3-4 were classified as advanced CKM.Descriptive statistics and chi-square tests were used to compare the prevalence of CKM stages across ethnic groups.Modified Poisson regression was applied to estimate relative risk(RR)and 95%confidence intervals(CI)for factors associated with advanced CKM.Results:The prevalence rates of CKM stage 1 and above among the Hani,Dai,Bai and Lisu ethnic groups were 80.1%,87.3%,84.8%and 67.8%,respectively.The prevalence of CKM was generally higher in males than in females,and the prevalence of CKM increased significantly with age.The Dai ethnic group had the highest prevalence of advanced CKM(24.7%,95%CI:22.1%-27.4%),while the Lisu ethnic group had the lowest prevalence of advanced CKM(13.7%,95%CI:11.5%-15.9%).Modified Poisson regression analysis showed that older age and higher body mass index were common risk factors for advanced CKM across all four ethnic groups.Additionally,except for the Lisu ethnic group,the other three ethnic groups had specific individual risk factors:among the Hani ethnic group,low educational attainment(RR=2.18,95%CI:1.12-4.25)and low income(RR=1.47,95%CI:1.00-2.18)were the primary risk factors of CKM.Among the Dai ethnic group,smoking(RR=1.60,95%CI:1.07-2.37)and a family history of cardiovascular disease(RR=1.61,95%CI:1.14-2.27)are the primary risk factors of CKM.Among the Bai ethnic group,male gender(RR=0.48,95%CI:0.29-0.79)was the primary risk factor of CKM.Conclusions:The prevalence of CKM stage 1 or higher is relatively high among the four minority ethnic groups in Yunnan province.There are significant differences in staging characteristics and primary risk factors across ethnic groups,necessitating the development of stratified,differentiated intervention strategies to achieve precise prevention and control and ethnic health equity in terms of CKM.
3.Analysis on research trends and hotspots of TCM papers in high impact factor journals from 2014 to 2024
Yalei ZHANG ; Yuejing CHEN ; Yile LU ; Yixin SHI ; Zhenmin LI ; Qiuwen FAN ; Yunhui SHEN ; Xinyang SONG ; Lili XU
International Journal of Traditional Chinese Medicine 2025;47(11):1595-1601
Objective:To understand trends and hotspots of TCM research papers published in journals with high IF basing on a bibliometric analysis.Methods:TCM research papers published between January 1, 2014 and December 31, 2024 from 80 journals with IF higher than 16.0 were retrieved from medical, life sciences and comprehensive journals in Journal Citation Reports of 2024. CiteSpace 6.3.R1 and Excel 2021 were used to analyze and visualize annual publication volume, research fields, features of clinical study, institutes, funds and keywords.Results:A total of 51 papers were included, showing an increasing trend in annual publication volume; the main research areas were pharmacology, acupuncture&moxibustion and internal medicine. Multi-center randomized controlled trials were the main clinical studies; China Academy of Chinese Medical Sciences was the leading institute in terms of publication volume; 84 funds were involved, including National Natural Science Foundation of China. Keywords that appeared most frequently were TCM, efficacy, double blind, electroacupuncture, stimulation and management.Conclusion:The number and quality of TCM research papers are improved simultaneously; future research needs to deepen international cooperation, and pay attention to the integration of TCM diagnosis and treatment characteristics and modern scientific research methods.
4.Research on the protection of subjects'privacy in drug clinical trials from the perspective of responsible innovation
Yulu FAN ; Xiaodan LI ; Cuiying SHI ; Yixin CHEN
Chinese Medical Ethics 2025;38(8):974-980
In drug clinical trials,the protection of subjects'privacy should take precedence over scientific exploration and societal benefits.This paper compared the differences in legal systems for the protection of subjects'privacy in China and abroad by employing methods such as literature review,case analysis,and comparison of domestic and foreign situations.It also elucidated the current ethical challenges faced by the protection of subjects'privacy,which primarily included imperfect laws and regulations,insufficient protection awareness among relevant personnel,risks of privacy breaches in critical links,and increased difficulty in data confidentiality under emerging technologies.From the perspective of responsible innovation,specific paths were proposed to protect subjects'privacy by using the four-dimensional structure of"prediction-reflection-negotiation-feedback,"maintaining a balance between ethical principles and technological innovation,ensuring the ethical and compliant nature of drug clinical trials,and thus better contributing to the cause of human health.
5.Feature of Cardiovascular-kidney-metabolic Syndrome Among Ethnic Minorities in Yunnan,China
Nuerguli TUERDI ; Xue CAO ; Yujie ZHANG ; Zixuan DONG ; Weiping LI ; Fan LI ; Xin WANG ; Congyi ZHENG ; Yixin TIAN ; Chenye CHANG ; Xuyan PEI ; Qinglan JIA ; Jialu YANG ; Zengwu WANG
Chinese Circulation Journal 2025;40(10):1022-1029
Objectives:To investigate the epidemiological characteristics and ethnic differences of cardiovascular-kidney-metabolic syndrome(CKM)among the Hani,Dai,Bai,and Lisu populations in Yunnan Province,and to provide evidence for developing effective prevention and control strategies for CKM.Methods:A cross-sectional survey was conducted among four ethnic minority groups.A total of 3 906 permanent residents aged 18 years and older were enrolled using a multistage cluster random sampling method.CKM stages(0-4)were defined based on the 2023 American Heart Association criteria,stages 3-4 were classified as advanced CKM.Descriptive statistics and chi-square tests were used to compare the prevalence of CKM stages across ethnic groups.Modified Poisson regression was applied to estimate relative risk(RR)and 95%confidence intervals(CI)for factors associated with advanced CKM.Results:The prevalence rates of CKM stage 1 and above among the Hani,Dai,Bai and Lisu ethnic groups were 80.1%,87.3%,84.8%and 67.8%,respectively.The prevalence of CKM was generally higher in males than in females,and the prevalence of CKM increased significantly with age.The Dai ethnic group had the highest prevalence of advanced CKM(24.7%,95%CI:22.1%-27.4%),while the Lisu ethnic group had the lowest prevalence of advanced CKM(13.7%,95%CI:11.5%-15.9%).Modified Poisson regression analysis showed that older age and higher body mass index were common risk factors for advanced CKM across all four ethnic groups.Additionally,except for the Lisu ethnic group,the other three ethnic groups had specific individual risk factors:among the Hani ethnic group,low educational attainment(RR=2.18,95%CI:1.12-4.25)and low income(RR=1.47,95%CI:1.00-2.18)were the primary risk factors of CKM.Among the Dai ethnic group,smoking(RR=1.60,95%CI:1.07-2.37)and a family history of cardiovascular disease(RR=1.61,95%CI:1.14-2.27)are the primary risk factors of CKM.Among the Bai ethnic group,male gender(RR=0.48,95%CI:0.29-0.79)was the primary risk factor of CKM.Conclusions:The prevalence of CKM stage 1 or higher is relatively high among the four minority ethnic groups in Yunnan province.There are significant differences in staging characteristics and primary risk factors across ethnic groups,necessitating the development of stratified,differentiated intervention strategies to achieve precise prevention and control and ethnic health equity in terms of CKM.
6.Research on the protection of subjects'privacy in drug clinical trials from the perspective of responsible innovation
Yulu FAN ; Xiaodan LI ; Cuiying SHI ; Yixin CHEN
Chinese Medical Ethics 2025;38(8):974-980
In drug clinical trials,the protection of subjects'privacy should take precedence over scientific exploration and societal benefits.This paper compared the differences in legal systems for the protection of subjects'privacy in China and abroad by employing methods such as literature review,case analysis,and comparison of domestic and foreign situations.It also elucidated the current ethical challenges faced by the protection of subjects'privacy,which primarily included imperfect laws and regulations,insufficient protection awareness among relevant personnel,risks of privacy breaches in critical links,and increased difficulty in data confidentiality under emerging technologies.From the perspective of responsible innovation,specific paths were proposed to protect subjects'privacy by using the four-dimensional structure of"prediction-reflection-negotiation-feedback,"maintaining a balance between ethical principles and technological innovation,ensuring the ethical and compliant nature of drug clinical trials,and thus better contributing to the cause of human health.
7.Clinical characteristics and genetic analysis of Duchenne muscular dystrophy with myogenic tumors
Lifang SONG ; Li WANG ; Daoqi MEI ; Yuan WANG ; Yanli MA ; Kaili XU ; Fan WANG ; Yixin XIAN ; Xiao FENG ; Kai LIU
Chinese Journal of Neurology 2025;58(6):632-639
Objective:To investigate the clinical characteristics and genetic etiology of Duchenne muscular dystrophy (DMD) with myogenic tumors.Methods:The clinical data of 2 children with DMD combined with myogenic tumors diagnosed in Children′s Hospital Affiliated to Zhengzhou University in July 2021 and February 2022 were collected. The relevant literature was reviewed to summarize the clinical characteristics and explore the mechanism of the dystrophin ( DMD) gene in myogenic tumors. Results:A 6-year and 10-month-old boy with DMD (deletion of exon 45) and a 12-year-old boy with DMD (deletion of exon 51) were diagnosed with tumors. They were diagnosed with DMD for delayed motor development in the Department of Neurology of Children′s Hospital Affiliated to Zhengzhou University. They presented with painless masses in the waist. Postoperative pathological diagnosis: the pathology and immunohistochemistry of case 1 showed an alveolar rhabdomyosarcoma (ARMS) and both myogenin and myogenic differentiation 1 positive; the pathology and immunohistochemistry of case 2 showed an alveolar soft part sarcoma(ASPS) and transcription factor enhancer 3 positive; both cases were myogenic tumors. Literature review (including this paper) showed that there were in total 14 cases with DMD combined with myogenic tumors including 13 cases of rhabdomyosarcoma (RMS) and 1 case of ASPS. All of them are male, and the age of onset of the tumors was 4-17 years. Pathological subtypes were described in 6 cases of ARMS and 5 cases of embryonal RMS, and were not described in 2 cases. The 9 cases described all had large deletions in the DMD gene which can change the reading frame of the DMD gene, and all gene mutations did not exceed exon 62. Conclusions:DMD gene with deletion may increase the risk of having myogenic tumors, and RMS is more common, which is manifested as painless mass in early stage. All DMD gene deletions do not exceed exon 62 and lead to change of the gene reading frame with severe clinical phenotype and degenerative changes in muscle function.
8.Expert Consensus on the Application of Free Polyfoliate Perforator Flaps
Juyu TANG ; Yixin ZHANG ; Shimin ZHANG ; Yongjun RUI ; Xiaoheng DING ; Xin WANG ; Lei XU ; Guangyue ZHAO ; Shuming ZHANG ; Qingtang ZHU ; Shanlin CHEN ; Wenjun LI ; Xinyu FAN ; Xianyou ZHENG ; Shihui GU ; Panfeng WU ; Jie ZHAN ; Yaping LIU ; Xiaoju ZHENG ; Xing ZHANG ; Lu YIN ; Fang YU ; Liming QING ; Songlin XIE ; Mingjiang LIU ; Jun LIU ; Xiaodan XIA ; Kuangwen LI ; Fei LIU ; Zengtao WANG ; Huaqiao WANG ; Guangtai MU ; Maolin TANG ; Yongqing XU ; Liqiang GU ; Dachuan XU ; Chunlin HOU
Chinese Journal of Microsurgery 2024;47(6):601-610
The polyfoliate perforator flap is a new type of flap that was developed on the basis of the traditional polyfoliate myocutaneous flap, polyfoliate fascial flap and perforator flap. It overturns the traditional idea that the deep fascial vascular network is the fundamental for a survival of the flap, and enables the flaps to achieve the best profile and function of the recipient areas with minimal damage to the donor area. In order to improve the understanding of the polyfoliate perforator flap and further standardise its clinical application, this paper forms a consensus on the definition, classification, indications, operative points and precautions of the polyfoliate perforator flap, so as to provide references in diagnosis and treatment process and practical application for the surgeons.
9.Nociceptive adenosine A2A receptor on trigeminal nerves orchestrates CGRP release to regulate the progression of oral squamous cell carcinoma
Jiang LANXIN ; Zhou YING ; Tang SHIJIE ; Yang DAN ; Zhang YIXIN ; Zhang JIUGE ; Yang FAN ; Zhou TONG ; Xia XIAOQIANG ; Chen QIANMING ; Jiang LU ; Jiang YUCHEN ; Feng XIAODONG
International Journal of Oral Science 2024;16(4):685-694
Oral squamous cell carcinoma(OSCC)associated pain commonly predicts adverse events among patients.This clinical feature indicates the engagement of nociceptors on sensory neurons during the development of malignancy.However,it is yet to be determined if targeting oncometabolite-associated nociception processes can hinder OSCC progression.In this study,we reported that nociceptive endings infiltrating both clinical samples and mouse tumor xenografts were associated with poorer clinical outcomes and drove tumor progression in vivo,as evidenced by clinical tissue microarray analysis and murine lingual denervation.We observed that the OSCC microenvironment was characteristic of excessive adenosine due to CD73 upregulation which negatively predicted clinical outcomes in the TCGA-HNSC patient cohort.Notably,such adenosine concentrative OSCC niche was associated with the stimulation of adenosine A2A receptor(A2AR)on trigeminal ganglia.Antagonism of trigeminal A2AR with a selective A2AR inhibitor SCH58261 resulted in impeded OSCC growth in vivo.We showed that trigeminal A2AR overstimulation in OSCC xenograft did not entail any changes in the transcription level of CGRP in trigeminal ganglia but significantly triggered the release of CGRP,an effect counteracted by SCH58261.We further demonstrated the pro-tumor effect of CGRP by feeding mice with the clinically approved CGRP receptor antagonist rimegepant which inhibited the activation of ERK and YAP.Finally,we diminished the impact of CGRP on OSCC with istradefylline,a clinically available drug that targets neuronal A2AR.Therefore,we established trigeminal A2AR-mediated CGRP release as a promising druggable circuit in OSCC treatment.
10.The influence of employment status on depressive symptomatology during pregnancy
Yuezhen LI ; Jiali ZHANG ; Yixin YAO ; Wenjuan FAN ; Xuan ZHANG ; Yi ZHANG ; Ying CHEN ; Ning ZHANG ; Chunxue WANG
Chinese Journal of Psychiatry 2024;57(2):94-99
Objective:To evaluate the mood and psychological state of pregnant women with different working states and analyze the influence of working on depression state during the entire pregnancy.Methods:A total of 396 women aged 20-45 years were prospectively enrolled in Capital Medical University Affiliated Beijing Tian Tan Hospital in early pregnancy from December 2020 to April 2020. The ones who had a history of depressive disorder, bipolar disorder, and other mental disorders were excluded. Their psychological states were assessed by the Edinburgh Postnatal Depression Scale (EPDS), the Fatigue Severity Scale (FSS), and the Connor-Davidson Resilience Scale (CD-RISC) at baseline, the second and third trimester of pregnancy accordingly. Based on employment status during pregnancy, they were analyzed into Full-time (252 cases), Part-time (97 cases), and Unemployed (47 cases) groups. A 3 (Group) ×3 (Pregnancy trimester) repeated measures ANOVA was used to compare the differences in EPDS scores among the three groups. Multivariate Linear Regression was used to analyze the effects of employment status and other factors on EPDS scores during pregnancy.Results:Compared to the Full-time and Part-time employment groups, the Unemployed group had lower education levels and higher FSS scores [ones who own a bachelor′s degree or below: 85.2% (40/47) vs 64.3% (162/252); FSS score: (37.5±9.3) vs (33.1±11.2)] (all P<0.05). Repeated measures ANOVA showed the main effect of group and time on EPDS depression scores was statistically significant ( F=3.19, P=0.043; F=6.20, P=0.002). EPDS scores in early pregnancy were significantly higher than those in late pregnancy [(0.6±0.01) vs (0.5±0.01), P=0.003]. There was no significant difference in EPDS scores among different groups ( PBonferroni correction >0.017). There were no statistically significant interaction effects between the three groups and three trimesters of pregnancy ( F=1.34, P=0.253). Regression analysis results showed that Full-time or Part-time employment, higher marital satisfaction, better psychological resilience contributed fewer depression scores in the second trimester of pregnancy ( R 2adjusted=0.34, F=22.37, P<0.001). Conclusion:Both Full-time and Part-time employment during pregnancy have a positive impact on depressive mood in the second trimester of pregnancy but probably no impact in the early and late pregnancy.

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