1.Analysis of immune infiltration mechanism of dermatomyositis and prediction of therapeutic targets of traditional Chinese medicine based on CIBERSORT algorithm
Pu WANG ; Min HU ; Suyue PAN ; Qiao HUANG ; Dongyu CHEN ; Wenlong FAN ; Xiaoyu YANG ; Hong-xin WANG ; Yuqing HE
Chinese Journal of Immunology 2025;41(4):783-791,中插1
Objective:To analyze the gene chip related to dermatomyositis based on bioinformatics,to explore the immune in-filtration mechanism of key genes in dermatomyositis by CIBERSORT deconvolution algorithm,and to predict the therapeutic targets of dermatomyositis by network pharmacology.Methods:The gene microarray of dermatomyositis was searched in GEO database,and the differentially coexpressed genes were screened and analyzed.The differentially coexpressed genes were analyzed by GO analysis,KEGG analysis,protein interaction network construction(PPI)by R software package.Verify the expression levels of key genes,and the correlation of immune cell infiltration was analyzed by CIBERSORT deconvolution method.Through the medical ontology informa-tion retrieval platform Coremine medical database,the traditional Chinese medicine treatment targets of dermatomyositis were screened and summarized.Results:A total of 196 differentially expressed genes were screened.GO enrichment analysis showed that these differentially expressed genes were mainly concentrated in defense response to virus,blood particles,double-stranded RNA binding,polypeptide antigen binding,and so on.KEGG enrichment analysis showed that it was enriched in RIG-Ⅰ-like receptor sig-nal pathway,Toll-like receptor signal pathway and other signal pathways related to the pathogenesis of dermatomyositis.Finally,four key genes of dermatomyositis,STAT1,ISG15,IRF7 and IRF9 were obtained.Through CIBERSORT algorithm,M1 macrophages,M2 macrophages and CD8+T cells were the three kinds of cells with the highest average proportion and the most obvious immune infil-tration,and there was a significant positive correlation between activated natural killer cells and activated dendritic cells,while there was a significant negative correlation between resting mast cells and activated mast cells.The therapeutic targets of traditional Chinese medicine such as fish brain stone were predicted based on Coremine medical database;through channel analysis,it could be found that these traditional Chinese medicines are mainly attributed to liver meridian,lung meridian,spleen meridian;efficacy analysis is mainly focused on clearing heat,detoxification,promoting blood circulation and removing blood stasis,relieving cough and resolving phlegm and so on.Conclusion:Four key genes and some key signal pathways of dermatomyositis,STAT1,ISG15,IRF7 and IRF9 were obtained by bioinformatics method,the immune infiltration mechanism was analyzed by CIBERSORT algorithm,and the thera-peutic potential targets of traditional Chinese medicine were screened out to provide direction for the pathogenesis and treatment of der-matomyositis.
2.Extracorporeal blood purification therapy for acute poisoning in Jiangsu Province, China: a cross-sectional, multicenter real-world study
Li QIAO ; Jinsong ZHANG ; Jianrong CHEN ; Lijun LIU ; Ping GENG ; Hong SUN ; Yeping DU ; Zhiguang TIAN ; Jianjun MA ; Rushan YANG ; Jiancheng DONG ; Zheng QIN ; Shanshan WU ; Yumin PAN ; Yigang WU
Chinese Journal of Emergency Medicine 2025;34(3):369-375
Objective:To investigate the current application of blood purification in the treatment of acute poisoning within Jiangsu Province and to evaluate the impact of extracorporeal blood purification on the clinical outcomes of critically poisoned patients.Methods:This multicenter, cross-sectional real-world observational study followed patients presenting with poisoning to the emergency departments of nine hospitals in Jiangsu Province between June 2015 and May 2019. Data were collected on demographic characteristics, vital signs within the first hour of emergency presentation, treatment modalities, length of hospital stay, and survival outcomes. Clinical data from patients who underwent extracorporeal blood purification were compared with those who did not, using the Wilcoxon rank-sum test and Chi-square test.Results:A total of 4 178 poisoning cases were included between June 2015 and May 2019. Among them, 21.7% (908/4 178) received blood purification therapy, while 78.3% (3 270/4 178) did not. Hemoperfusion (90.4%) was the most frequently employed method, followed by continuous renal replacement therapy (CRRT) (4.4%). In combined blood purification modalities, 4.8% underwent hemoperfusion combined with CRRT, 0.1% received hemoperfusion with plasma exchange, and another 0.1% underwent hemoperfusion combined with both CRRT and plasma exchange. Among patients who underwent blood purification, pesticide poisoning was the most prevalent (76.3%), with the most common toxic agents being paraquat (23.7%), dichlorvos (8.7%), methamidophos (5.2%), omethoate (4.0%), and glyphosate (3.7%). Compared to the non-blood purification group, patients in the blood purification group were more likely to present within the first hour with a low Glasgow Coma Scale (GCS) score (3-8) (22.6% vs. 9.7%, P <0.05), low mean arterial pressure (8.0% vs. 3.2%, P <0.05), longer hospital stays [5(3,9) days vs. 2(1,4) days, P <0.05] and a higher in-hospital mortality rate (21.1% vs. 5.3%, P <0.05). Follow-up via telephone 28 days after discharge revealed a survival rate of 78.9%, with a mortality rate of 21.1% in the blood purification group. Conclusions:Hemoperfusion is the most commonly utilized blood purification technique for treating poisoning in Jiangsu Province, with pesticides being the primary toxic agents treated. Although the mortality rate is higher in the blood purification group, the intervention may still contribute to improved patient outcomes.
3.Analysis of immune infiltration mechanism of dermatomyositis and prediction of therapeutic targets of traditional Chinese medicine based on CIBERSORT algorithm
Pu WANG ; Min HU ; Suyue PAN ; Qiao HUANG ; Dongyu CHEN ; Wenlong FAN ; Xiaoyu YANG ; Hong-xin WANG ; Yuqing HE
Chinese Journal of Immunology 2025;41(4):783-791,中插1
Objective:To analyze the gene chip related to dermatomyositis based on bioinformatics,to explore the immune in-filtration mechanism of key genes in dermatomyositis by CIBERSORT deconvolution algorithm,and to predict the therapeutic targets of dermatomyositis by network pharmacology.Methods:The gene microarray of dermatomyositis was searched in GEO database,and the differentially coexpressed genes were screened and analyzed.The differentially coexpressed genes were analyzed by GO analysis,KEGG analysis,protein interaction network construction(PPI)by R software package.Verify the expression levels of key genes,and the correlation of immune cell infiltration was analyzed by CIBERSORT deconvolution method.Through the medical ontology informa-tion retrieval platform Coremine medical database,the traditional Chinese medicine treatment targets of dermatomyositis were screened and summarized.Results:A total of 196 differentially expressed genes were screened.GO enrichment analysis showed that these differentially expressed genes were mainly concentrated in defense response to virus,blood particles,double-stranded RNA binding,polypeptide antigen binding,and so on.KEGG enrichment analysis showed that it was enriched in RIG-Ⅰ-like receptor sig-nal pathway,Toll-like receptor signal pathway and other signal pathways related to the pathogenesis of dermatomyositis.Finally,four key genes of dermatomyositis,STAT1,ISG15,IRF7 and IRF9 were obtained.Through CIBERSORT algorithm,M1 macrophages,M2 macrophages and CD8+T cells were the three kinds of cells with the highest average proportion and the most obvious immune infil-tration,and there was a significant positive correlation between activated natural killer cells and activated dendritic cells,while there was a significant negative correlation between resting mast cells and activated mast cells.The therapeutic targets of traditional Chinese medicine such as fish brain stone were predicted based on Coremine medical database;through channel analysis,it could be found that these traditional Chinese medicines are mainly attributed to liver meridian,lung meridian,spleen meridian;efficacy analysis is mainly focused on clearing heat,detoxification,promoting blood circulation and removing blood stasis,relieving cough and resolving phlegm and so on.Conclusion:Four key genes and some key signal pathways of dermatomyositis,STAT1,ISG15,IRF7 and IRF9 were obtained by bioinformatics method,the immune infiltration mechanism was analyzed by CIBERSORT algorithm,and the thera-peutic potential targets of traditional Chinese medicine were screened out to provide direction for the pathogenesis and treatment of der-matomyositis.
4.Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients (version 2024)
Yao LU ; Yang LI ; Leiying ZHANG ; Hao TANG ; Huidan JING ; Yaoli WANG ; Xiangzhi JIA ; Li BA ; Maohong BIAN ; Dan CAI ; Hui CAI ; Xiaohong CAI ; Zhanshan ZHA ; Bingyu CHEN ; Daqing CHEN ; Feng CHEN ; Guoan CHEN ; Haiming CHEN ; Jing CHEN ; Min CHEN ; Qing CHEN ; Shu CHEN ; Xi CHEN ; Jinfeng CHENG ; Xiaoling CHU ; Hongwang CUI ; Xin CUI ; Zhen DA ; Ying DAI ; Surong DENG ; Weiqun DONG ; Weimin FAN ; Ke FENG ; Danhui FU ; Yongshui FU ; Qi FU ; Xuemei FU ; Jia GAN ; Xinyu GAN ; Wei GAO ; Huaizheng GONG ; Rong GUI ; Geng GUO ; Ning HAN ; Yiwen HAO ; Wubing HE ; Qiang HONG ; Ruiqin HOU ; Wei HOU ; Jie HU ; Peiyang HU ; Xi HU ; Xiaoyu HU ; Guangbin HUANG ; Jie HUANG ; Xiangyan HUANG ; Yuanshuai HUANG ; Shouyong HUN ; Xuebing JIANG ; Ping JIN ; Dong LAI ; Aiping LE ; Hongmei LI ; Bijuan LI ; Cuiying LI ; Daihong LI ; Haihong LI ; He LI ; Hui LI ; Jianping LI ; Ning LI ; Xiying LI ; Xiangmin LI ; Xiaofei LI ; Xiaojuan LI ; Zhiqiang LI ; Zhongjun LI ; Zunyan LI ; Huaqin LIANG ; Xiaohua LIANG ; Dongfa LIAO ; Qun LIAO ; Yan LIAO ; Jiajin LIN ; Chunxia LIU ; Fenghua LIU ; Peixian LIU ; Tiemei LIU ; Xiaoxin LIU ; Zhiwei LIU ; Zhongdi LIU ; Hua LU ; Jianfeng LUAN ; Jianjun LUO ; Qun LUO ; Dingfeng LYU ; Qi LYU ; Xianping LYU ; Aijun MA ; Liqiang MA ; Shuxuan MA ; Xainjun MA ; Xiaogang MA ; Xiaoli MA ; Guoqing MAO ; Shijie MU ; Shaolin NIE ; Shujuan OUYANG ; Xilin OUYANG ; Chunqiu PAN ; Jian PAN ; Xiaohua PAN ; Lei PENG ; Tao PENG ; Baohua QIAN ; Shu QIAO ; Li QIN ; Ying REN ; Zhaoqi REN ; Ruiming RONG ; Changshan SU ; Mingwei SUN ; Wenwu SUN ; Zhenwei SUN ; Haiping TANG ; Xiaofeng TANG ; Changjiu TANG ; Cuihua TAO ; Zhibin TIAN ; Juan WANG ; Baoyan WANG ; Chunyan WANG ; Gefei WANG ; Haiyan WANG ; Hongjie WANG ; Peng WANG ; Pengli WANG ; Qiushi WANG ; Xiaoning WANG ; Xinhua WANG ; Xuefeng WANG ; Yong WANG ; Yongjun WANG ; Yuanjie WANG ; Zhihua WANG ; Shaojun WEI ; Yaming WEI ; Jianbo WEN ; Jun WEN ; Jiang WU ; Jufeng WU ; Aijun XIA ; Fei XIA ; Rong XIA ; Jue XIE ; Yanchao XING ; Yan XIONG ; Feng XU ; Yongzhu XU ; Yongan XU ; Yonghe YAN ; Beizhan YAN ; Jiang YANG ; Jiangcun YANG ; Jun YANG ; Xinwen YANG ; Yongyi YANG ; Chunyan YAO ; Mingliang YE ; Changlin YIN ; Ming YIN ; Wen YIN ; Lianling YU ; Shuhong YU ; Zebo YU ; Yigang YU ; Anyong YU ; Hong YUAN ; Yi YUAN ; Chan ZHANG ; Jinjun ZHANG ; Jun ZHANG ; Kai ZHANG ; Leibing ZHANG ; Quan ZHANG ; Rongjiang ZHANG ; Sanming ZHANG ; Shengji ZHANG ; Shuo ZHANG ; Wei ZHANG ; Weidong ZHANG ; Xi ZHANG ; Xingwen ZHANG ; Guixi ZHANG ; Xiaojun ZHANG ; Guoqing ZHAO ; Jianpeng ZHAO ; Shuming ZHAO ; Beibei ZHENG ; Shangen ZHENG ; Huayou ZHOU ; Jicheng ZHOU ; Lihong ZHOU ; Mou ZHOU ; Xiaoyu ZHOU ; Xuelian ZHOU ; Yuan ZHOU ; Zheng ZHOU ; Zuhuang ZHOU ; Haiyan ZHU ; Peiyuan ZHU ; Changju ZHU ; Lili ZHU ; Zhengguo WANG ; Jianxin JIANG ; Deqing WANG ; Jiongcai LAN ; Quanli WANG ; Yang YU ; Lianyang ZHANG ; Aiqing WEN
Chinese Journal of Trauma 2024;40(10):865-881
Patients with severe trauma require an extremely timely treatment and transfusion plays an irreplaceable role in the emergency treatment of such patients. An increasing number of evidence-based medicinal evidences and clinical practices suggest that patients with severe traumatic bleeding benefit from early transfusion of low-titer group O whole blood or hemostatic resuscitation with red blood cells, plasma and platelet of a balanced ratio. However, the current domestic mode of blood supply cannot fully meet the requirements of timely and effective blood transfusion for emergency treatment of patients with severe trauma in clinical practice. In order to solve the key problems in blood supply and blood transfusion strategies for emergency treatment of severe trauma, Branch of Clinical Transfusion Medicine of Chinese Medical Association, Group for Trauma Emergency Care and Multiple Injuries of Trauma Branch of Chinese Medical Association, Young Scholar Group of Disaster Medicine Branch of Chinese Medical Association organized domestic experts of blood transfusion medicine and trauma treatment to jointly formulate Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients ( version 2024). Based on the evidence-based medical evidence and Delphi method of expert consultation and voting, 10 recommendations were put forward from two aspects of blood support mode and transfusion strategies, aiming to provide a reference for transfusion resuscitation in the emergency treatment of severe trauma and further improve the success rate of treatment of patients with severe trauma.
5.Factors influencing good blood glucose control in elderly diabetic patients
Xiuqi QIAO ; Na AN ; Minghui WANG ; Hong WANG ; Fuying ZHAO ; Ran LUAN ; Jiaming CAO ; Qi PAN
Chinese Journal of Geriatrics 2024;43(8):994-999
Objective:To investigate blood glucose management in elderly diabetic patients and the factors that affected achieving high rates of achieving it.Methods:The quality of blood glucose control by elderly diabetic patients who visited five community health service centers in Beijing in June 2022 was surveyed retrospectively using a questionnaire.Participants were divided into the high-quality group and not high-quality groups by the criteria of glycosylated hemoglobin(HbA 1C)<7% without hypoglycemia and weight gain.Single factor analysis and multiple-stepwise Logistic regression analysis were used to identify the relative risk of factors affecting the achievement of good glucose management. Results:A total of 287 valid questionnaires were collected, including 80 cases(27.9%)in the high-quality group and 207 cases(72.1%)in the not high-quality group.There were significant differences in sex, course of disease, occurrence of hypoglycemia, number of chronic complications, medication, alcohol consumption, dietary changes, missed medication doses, prolonged outpatient visit intervals, and depressive mood between the two groups( P<0.05).Multivariate stepwise logistic regression analysis showed that insulin use, missed medication ≥ 1 time/week, and prolonged outpatient visit intervals were independent risk factors for good control( P<0.05). Conclusions:The percentage of elderly diabetes patients with good blood glucose control was low.Factors affecting the rate included insulin use, medication compliance, and prolonged outpatient visit intervals.
6.Network Correlation Analysis Between Components of Shuanghuanglian Injection and Allergy-like Targets
Weilong ZHANG ; Hong HE ; Ru QIAO ; Peng HE ; Wenjiao LI ; Liangqi ZHANG ; Xiaoxuan LIU ; Siqi HUANG ; Xue PAN ; Fuyuan HE
Chinese Journal of Experimental Traditional Medical Formulae 2024;30(19):190-197
ObjectiveBased on the network pharmacology system and quantitative spectroscopy of traditional Chinese medicine(TCM) compounds, a topological network analysis method with equilibrium constant as the core was established to further explore the interaction between allergenic components and their network targets in Shuanghuanglian injection(SHLI), in order to provide new ideas and experimental basis for identifying and screening potential allergens of SHLI. MethodAfter one week of adaptive feeding, 72 SPF-grade SD male rats were randomly divided into blank group, SHLI standard group, Lonicerae Japonicae Flos(LJF) group, Scutellariae Radix(SR) group, Forsythiae Fructus(FF) group, and 7 groups of SHLI matching groups(groups 1-7), with 6 rats in each group. Rats in each group were administered the drug intravenously and blood samples were taken after steady state, high performance liquid chromatography(HPLC) characterization profiles of the testing drugs and plasma components in each group were established, and the peak area changes of the drugs and plasma components in each group were calculated after the component groups were classified. Enzyme-linked immunosorbent assay(ELISA) was used to determine the changes of immunoglobulin E(IgE), histamine(HIS), tryptase(TPS), total complement(CH50) and terminal complement complex(C5b-9) in animal blood samples. MATLAB R2020b v9.9.0 software was used to calculate the network balance constants of the component groups with the targets, and the eigenvalues of the matrices composed of network equilibrium constants were calculated and ranked according to their values. ResultELISA results showed that, compared with the blank group, groups 1-3 could significantly increase the IgE level, groups 1-2, groups 4-6 and SHLI standard group could significantly increase the HIS level, group 4 could significantly increase the CH50 level, groups 1, 3-4, LJF group and FF group could significantly increase the TPS level, SR group could significantly increase the C5b-9 level, and the differences were all statistically significant(P<0.05). According to the retention time of chromatographic peaks, it was classified into 6 component groups from C1 to C6 by HPLC. The order of the network balance constants of each component group was C6>C4>C1>C5>C3>C2, indicating that C6 had the greatest effect on the allergic reaction, and was most likely to be the allergen. The sequence of eigenvalues was C2>C5b-9>C3>C1>CH50>C6>C5>IgE>TPS>C4>HIS, indicating that component group C2 had the greatest contribution to the whole network. ConclusionBased on the correlation analysis of SHLI component group and allergy-like target network, this study clarified that component group C6 may be a potential allergen in SHLI, and the component group C2 may be a key node in the mechanism of drug action, which can provide new strategies and methods for the screening of allergens in TCM injections.
7.Cloning and expression analysis of wpHSP90 gene from Whitmania pigra at different temperatures.
Hui-Ning ZHANG ; Qiao-Sheng GUO ; Hong-Zhuan SHI ; Pan-Pan CHEN ; Li-Yuan GUO ; Han-Mei XUAN
China Journal of Chinese Materia Medica 2023;48(22):6051-6057
HSP90 is a widely distributed molecular chaperone that participates in a variety of cellular processes and plays an important role in the meiosis of germ cells. However, its role in the gonadal development of hermaphroditic Whitmania pigra is not yet clear. To explore the effect of HSP90 on the germ cell development of Wh. Pigra, this study cloned the wpHSP90 gene, performed bioinformatics analysis, and measured its expression levels. The results showed that the cloned wpHSP90 was 2 592 bp in length, with an open reading frame(ORF) of 2 373 bp, encoding 790 amino acids. Prediction analysis revealed 85 phosphorylation modification sites on serine, threonine, and tyrosine residues of the wpHSP90 protein. Structural domain prediction and multiple sequence alignment results showed that wpHSP90 contained two conserved domains of HSP90 and exhibited the highest homology with Helobdella robusta, with a sequence similarity of 80.72%. RT-qPCR results showed that the relative expression level of wpHSP90 in the gonads of 5-month-old Wh. pigra was positively correlated with temperature within the range of 12 ℃ to 28 ℃. The expression level in the female gonads was significantly higher than in the male gonads and correlated with the trend of germ cell development in the ovaries and testes. In conclusion, wpHSP90 may be involved in regulating the development of germ cells, particularly oocytes, in Wh. pigra. This study provides a reference for further research on the gonadal development mechanism in Wh. pigra.
Animals
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Female
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Male
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Temperature
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Ovary
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Gonads
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Testis
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Leeches
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Cloning, Molecular
8.Study on changes in management capabilities of chronic disorders in elderly diabetic patients during the COVID-19 pandemic
Xiuqi QIAO ; Na AN ; Minghui WANG ; Hong WANG ; Fuying ZHAO ; Ran LUAN ; Jiaming CAO ; Qi PAN
Chinese Journal of Geriatrics 2023;42(10):1180-1184
Objective:To investigate changes in the self-management ability of chronic diseases in elderly diabetic patients during the novel coronavirus pneumonia pandemic.Methods:A multi-stage cluster sampling method was used to retrospectively collect diabetes management information from elderly diabetic patients treated in five community health service centers in Beijing in June 2022, including 295 elderly diabetic patients, and changes in management of their self-care practices such as diet, exercise, medical treatment and medication, blood glucose monitoring, complication management, and psychological states before and after the outbreak(2019-2022)were analyzed.Results:In 295 elderly diabetic patients, increased glycated hemoglobin( P<0.05)and body mass index(BMI)( P<0.05)were observed during the pandemic.Among 115 patients with underlying diabetic complications, 75.7%(87)of patients had worsening symptoms of chronic complications of diabetes and a shortened weekly exercise time[124(60, 300)min vs.140(60, 300)min, Z=6.00, P<0.05].The number of weekly blood glucose tests was reduced(5.6±4.2 vs.5.8±4.3, t=3.17, P<0.05).The weekly time spent interacting with family members increased( P<0.05).There were no significant differences in body weight, sleep time, and number of times of forgetting to take medication per week before and after the outbreak( P>0.05).21.0% of patients had a decrease in the number of hospital visits, and 72.2% of patients experienced low mood and increased adverse psychological emotions during the pandemic. Conclusions:The pandemic has had a negative impact on the management of chronic diseases in elderly diabetic patients, mainly reflected in the reduction of exercise time and blood glucose monitoring.It also affected regular hospital visits of patients, resulting in negative psychological emotions, poor blood glucose control, increased BMI, and aggravated symptoms of chronic complications, compared with their pre-pandemic conditions.
9.Dilemma and breakthrough of acupuncture-moxibustion department under the situation of rapid expansion of hospital.
Shao-Zong CHEN ; Wei-Xing PAN ; Xiang-Hong JING ; Jian-Qiao FANG
Chinese Acupuncture & Moxibustion 2022;42(1):8-12
Under the situation of the rapid expansion of hospital, the dilemma of acupuncture-moxibustion department, as well as the relevant solutions are explored. The main reasons for the shrinking situation of the service in acupuncture-moxibustion department include: the disease-based department division trends to divert many diseases suitably treated in acupuncture-moxibustion department; the environment pursuing economic benefits restricts the development of acupuncture-moxibustion therapy characterized by "simple and low-cost operation". There are three important approaches for breaking through the dilemma of acupuncture and moxibustion therapy. First, modifying the traditional service mode as waiting for patients in acupuncture-moxibustion department and promoting acupuncture and moxibustion technology to be adopted in other departments rather than limited only in acupuncture-moxibustion department. Second, increasing the charges of acupuncture and moxibustion technology rationally. Third, positioning accurately the role of acupuncture and moxibustion technology in health services based on its own characteristics and advantages and promoting it in community medical institutions. All of these solutions require the guidance of supporting policies.
Acupuncture
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Acupuncture Therapy
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Hospitals
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Humans
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Moxibustion
10.Analysis of clinical phenotype and genotype of Chinese children with disorders of sex development.
Hu LIN ; Hao YANG ; Jun Fen FU ; Jin Na YUAN ; Ke HUANG ; Wei WU ; Guan Ping DONG ; Hong Juan TIAN ; De Hua WU ; Da Xing TANG ; Ding Wen WU ; Li Ying SUN ; Ya Lei PI ; Li Jun LIU ; Li Ping SHI ; Wei GU ; Lu Gang HUANG ; Yi Hua WANG ; Lin Qi CHEN ; Hong Ying LI ; Yang YU ; Hai Yan WEI ; Xin Ran CHENG ; Xiao Ou SHAN ; Yu LIU ; Xu XU ; Shu LIU ; Xiao Ping LUO ; Yan Feng XIAO ; Yu YANG ; Gui Mei LI ; Mei FENG ; Xiu Qi MA ; Dao Xiang PAN ; Jia Yan TANG ; Rui Min CHEN ; Mireguli MAIMAITI ; De Yun LIU ; Xin Hai CUI ; Zhe SU ; Zhi Qiao DONG ; Li ZOU ; Yan Ling LIU ; Jin WU ; Kun Xia LI ; Yuan LI
Chinese Journal of Pediatrics 2022;60(5):435-441
Objective: To explore the heterogeneity and correlation of clinical phenotypes and genotypes in children with disorders of sex development (DSD). Methods: A retrospective study of 1 235 patients with clinically proposed DSD in 36 pediatric medical institutions across the country from January 2017 to May 2021. After capturing 277 DSD-related candidate genes, second-generation sequencing was performed to analyzed the heterogeneity and correlation combined with clinical phenotypes. Results: Among 1 235 children with clinically proposed DSD, 980 were males and 255 were females of social gender at the time of initial diagnosis with the age ranged from 1 day of age to 17.92 years. A total of 443 children with pathogenic variants were detected through molecular genetic studies, with a positive detection rate of 35.9%. The most common clinical phenotypes were micropenis (455 cases), hypospadias (321 cases), and cryptorchidism (172 cases) and common mutations detected were in SRD5A2 gene (80 cases), AR gene (53 cases) and CYP21A2 gene (44 cases). Among them, the SRD5A2 mutation is the most common in children with simple micropenis and simple hypospadias, while the AMH mutation is the most common in children with simple cryptorchidism. Conclusions: The SRD5A2 mutation is the most common genetic variant in Chinese children with DSD, and micropenis, cryptorchidism, and hypospadias are the most common clinical phenotypes. Molecular diagnosis can provide clues about the biological basis of DSD, and can also guide clinicians to perform specific clinical examinations. Target sequence capture probes and next-generation sequencing technology can provide effective and economical genetic diagnosis for children with DSD.
3-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics*
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Child
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China/epidemiology*
;
Cryptorchidism/genetics*
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Disorders of Sex Development/genetics*
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Female
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Genital Diseases, Male
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Genotype
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Humans
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Hypospadias/genetics*
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Male
;
Membrane Proteins/genetics*
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Penis/abnormalities*
;
Phenotype
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Retrospective Studies
;
Steroid 21-Hydroxylase/genetics*

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