1.Establishment of a nomogram for early risk prediction of severe trauma in primary medical institutions: A multi-center study.
Wang BO ; Ming-Rui ZHANG ; Gui-Yan MA ; Zhan-Fu YANG ; Rui-Ning LU ; Xu-Sheng ZHANG ; Shao-Guang LIU
Chinese Journal of Traumatology 2025;28(6):418-426
PURPOSE:
To analyze risk factors for severe trauma and establish a nomogram for early risk prediction, to improve the early identification of severe trauma.
METHODS:
This study was conducted on the patients treated in 81 trauma treatment institutions in Gansu province from 2020 to 2022. Patients were grouped by year, with 5364 patients from 2020 to 2021 as the training set and 1094 newly admitted patients in 2020 as the external validation set. Based on the injury severity score (ISS), patients in the training set were classified into 2 subgroups of the severe trauma group (n = 478, ISS scores ≥25) and the non-severe trauma group (n = 4886, ISS scores <25). Univariate and binary logistic regression analyses were employed to identify independent risk factors for severe trauma. Subsequently, a predictive model was developed using the R software environment. Furthermore, the model was subjected to internal and external validation via the Hosmer-Lemeshow test and receiver operating characteristic curve analysis.
RESULTS:
In total, 6458 trauma patients were included in this study. Initially, this study identified several independent risk factors for severe trauma, including multiple traumatic injuries (polytrauma), external hemorrhage, elevated shock index, elevated respiratory rate, decreased peripheral oxygen saturation, and decreased Glasgow coma scale score (all p < 0.05). For internal validation, the area under the receiver operating characteristic curve was 0.914, with the sensitivity and specificity of 88.4% and 87.6%, respectively; while for external validation, the area under the receiver operating characteristic curve was 0.936, with the sensitivity and specificity of 84.6% and 93.7%, respectively. In addition, a good model fitting was observed through the Hosmer-Lemeshow test and calibration curve analysis (p > 0.05).
CONCLUSION
This study establishes a nomogram for early risk prediction of severe trauma, which is suitable for primary healthcare institutions in underdeveloped western China. It facilitates early triage and quantitative assessment of trauma severity by clinicians prior to clinical interventions.
Humans
;
Nomograms
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Male
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Female
;
Wounds and Injuries/diagnosis*
;
Risk Factors
;
Middle Aged
;
Adult
;
Injury Severity Score
;
Risk Assessment
;
ROC Curve
;
Aged
;
Logistic Models
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China
;
Glasgow Coma Scale
2.FOXQ1 inhibits DNA damage-induced apoptosis in colorectal cancer cells by promoting p53 deacetylation
Gui-song YANG ; Huan-jie CHEN ; Gui-liang MA ; Fu-gang WANG ; Xiao-lei MA ; Hong QI
Chinese Journal of Current Advances in General Surgery 2025;28(4):266-270
Objective:To investigate the effect of FOXQ1 expression on chemoresistance in colorectal cancer and analyze its regulatory role in SIRT1 expression and p53 deacetylation under DNA damage response(DDR)condi-tions.Methods:qRT-PCR was used to detect FOXQ1 mRNA expression levels in SW620 cells and SW620 cells stimulated with cisplatin(CDDP).Lentiviral vectors were constructed for FOXQ1 overexpression and RNA interference.The cells were divided into three groups:FOXQ1 overexpression group(oe-FOXQ1),FOXQ1 RNA interference group(sh-FOXQ1),and a control group transfected with an empty vector(NC).The half-maximal inhibitory concentration(IC50)of CDDP in each group was determined using the CCK-8 assay.Apoptosis level and cell viability were assessed using the Annexin V-APC/7-ADD apoptosis detection kit and Calcein/PI staining.Western blot analysis was performed to evaluate the effect of FOXQ1 on SIRT1 expression and acetylated p53 levels.The SIRT1 pathway inhibitor(S)-Selisi-stat was introduced to observe changes in p53 acetylation levels.Results:Compared to normal colon tissues,FOXQ1 expression was significantly upregulated in SW620 cells(P<0.05),and low-dose CDDP stimulation further en-hanced its expression(P<0.05).After 24 hours of CDDP treatment,the IC50 values for the oe-FOXQ1,sh-FOXQ1,and NC groups were 58.3 μmol/L,36.4 μmol/L,and 43.7 μmol/L,respectively,with statistically significant differences among the groups(P<0.05).Compared to the NC group,the oe-FOXQ1 group showed a decrease in late apoptotic cell count(P<0.05),while the sh-FOXQ1 group exhibited an increase(P<0.05).Cytotoxic fluorescence staining re-vealed that the proportion of cell death was lower in the oe-FOXQ1 group and higher in the sh-FOXQ1 group com-pared to the NC group(P<0.05).Protein expression analysis showed that FOXQ1 and SIRT1 levels were higher in the oe-FOXQ1 group and lower in the sh-FOXQ1 group compared to the NC group(P<0.05).FOXQ1 overexpression pro-moted p53 deacetylation,while the addition of the SIRT1 pathway inhibitor(S)-Selisistat restored p53 acetylation levels(P<0.05).Conclusion:FOXQ1 promotes p53 deacetylation by upregulating SIRT1 expression,thereby inhibiting DDR-induced apoptosis.
3.FOXQ1 inhibits DNA damage-induced apoptosis in colorectal cancer cells by promoting p53 deacetylation
Gui-song YANG ; Huan-jie CHEN ; Gui-liang MA ; Fu-gang WANG ; Xiao-lei MA ; Hong QI
Chinese Journal of Current Advances in General Surgery 2025;28(4):266-270
Objective:To investigate the effect of FOXQ1 expression on chemoresistance in colorectal cancer and analyze its regulatory role in SIRT1 expression and p53 deacetylation under DNA damage response(DDR)condi-tions.Methods:qRT-PCR was used to detect FOXQ1 mRNA expression levels in SW620 cells and SW620 cells stimulated with cisplatin(CDDP).Lentiviral vectors were constructed for FOXQ1 overexpression and RNA interference.The cells were divided into three groups:FOXQ1 overexpression group(oe-FOXQ1),FOXQ1 RNA interference group(sh-FOXQ1),and a control group transfected with an empty vector(NC).The half-maximal inhibitory concentration(IC50)of CDDP in each group was determined using the CCK-8 assay.Apoptosis level and cell viability were assessed using the Annexin V-APC/7-ADD apoptosis detection kit and Calcein/PI staining.Western blot analysis was performed to evaluate the effect of FOXQ1 on SIRT1 expression and acetylated p53 levels.The SIRT1 pathway inhibitor(S)-Selisi-stat was introduced to observe changes in p53 acetylation levels.Results:Compared to normal colon tissues,FOXQ1 expression was significantly upregulated in SW620 cells(P<0.05),and low-dose CDDP stimulation further en-hanced its expression(P<0.05).After 24 hours of CDDP treatment,the IC50 values for the oe-FOXQ1,sh-FOXQ1,and NC groups were 58.3 μmol/L,36.4 μmol/L,and 43.7 μmol/L,respectively,with statistically significant differences among the groups(P<0.05).Compared to the NC group,the oe-FOXQ1 group showed a decrease in late apoptotic cell count(P<0.05),while the sh-FOXQ1 group exhibited an increase(P<0.05).Cytotoxic fluorescence staining re-vealed that the proportion of cell death was lower in the oe-FOXQ1 group and higher in the sh-FOXQ1 group com-pared to the NC group(P<0.05).Protein expression analysis showed that FOXQ1 and SIRT1 levels were higher in the oe-FOXQ1 group and lower in the sh-FOXQ1 group compared to the NC group(P<0.05).FOXQ1 overexpression pro-moted p53 deacetylation,while the addition of the SIRT1 pathway inhibitor(S)-Selisistat restored p53 acetylation levels(P<0.05).Conclusion:FOXQ1 promotes p53 deacetylation by upregulating SIRT1 expression,thereby inhibiting DDR-induced apoptosis.
4.Advances in inhibitory ion channel glycine receptors.
Xu-Ke PANG ; Si CHEN ; Xiang-Xian MA ; Yi-Nuo XU ; Wei-Jie BAI ; Chong-Lei FU ; Gui-Chang ZOU
Acta Physiologica Sinica 2024;76(6):908-916
Glycine receptors (GlyRs) belong to the ligand-gated ion channel receptor superfamily and are widely distributed throughout the central nervous system. GlyRs are essential for maintaining visual, auditory, sensory and motor functions, and abnormalities in its structure and function can lead to various neurological disorders. This review aims to provide an extensive analysis of the structure, function and regulatory mechanisms of GlyRs, and evaluate its role in various central nervous system diseases. Ultimately, this review will provide theoretical support for the development of novel drugs specifically targeting GlyRs.
Receptors, Glycine/physiology*
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Humans
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Animals
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Central Nervous System Diseases/metabolism*
5.One-stage posterior debridement and spinal internal fixation for the treatment of lumbar Brucellar spondylitis
Xian-Shuai KOU ; Wei SHE ; Gui-Fu MA ; Xing-Yu PU ; Yun-Biao WU ; Yang QI ; Wen-Yuan LUO
China Journal of Orthopaedics and Traumatology 2024;37(8):764-771
Objective To explore the clinical efficacy and safety of one-stage posterior lesion removal and internal spinal fixation in patients with lumbar Brucellosis spondylitis.Methods The clinical data of 24 patients admitted from October 2017 to October 2022 were retrospectively analyzed,2 patients were lost to follow-up at 10 months after surgery,at the final 22 cases were included in the study,including 13 males and 9 females with an average age of(52.00±6.89)years old,were treated with one-stage posterior lesion removal and internal spinal fixation.The operation time,intraoperative bleeding,follow-up time,ery-throcyte sedimentation rate(ESR)and C-reactive protein(CRP)before and after operation were recorded.The pain visual ana-logue scale(VAS),Oswestry disability index(ODI),the Japanese Orthopaedic Association(JOA)score for neurofunction,American Spinal Injury Association(ASIA)spinal cord injury grade and modified MacNab criteria were ussed to evaluate the efficacy.Results All patients were followed up from 12 to 30 months with an average of(17.41±4.45)months.The operation time was 70 to 155 min with an average of(1 16.59±24.32)min;the intraoperative bleeding volume was 120 to 520 ml with an average of(275.00±97.53)ml.CRP and ESR levels decreased more significantly at 1 week and at the final follow-up than pre-operative levels(P<0.05).VAS,JOA score and ODI at 1 week and at the latest follow-up were more significantly improved than preoperative results(P<0.05).There was no significant difference between ASIA preoperative and 1 week after operation(P>0.05),and a significant difference between preoperative and last follow-up(P<0.05).In the final follow-up,21 patients had ex-cellent efficacy,1 patient had fair,and there was no recurrence during the follow-up.Conclusion One-stage transpedicular le-sion removal and internal spinal fixation,with few incisions and short operation time,helps the recovery of neurological func-tion,and the prognosis meets the clinical requirements,which can effectively control Brucella spondylitis.
6.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.
7.Clinical analysis of the analgesic effect of general anesthesia combined with different concentrations of ropivacaine for abdominal transverse muscle planar block in laparoscopic appendectomy
Fu-Xing LIN ; Qing-Gui CHEN ; Bao-Xin MA ; Ying HUANG
China Pharmacist 2023;26(11):249-256
Objective To exploxe the analgesic effect of general anesthesia combined with different concentrations of ropivacaine and transverse abdominis plane block on laparoscopic appendectomy(LA).Methods LA patients from Xiamen University Affiliated Zhongshan Hospital from January 2022 to July 2023 were included.All patients underwent general anesthesia combined ropivacaine plane block of the transverse abdominis muscle.According to the different concentrations of ropivacaine,patients were divided into high concentration group(0.50%,20 mL),medium concentration group(0.375%,20 mL)and low concentration group(0.25%,20 mL).The dosage of fentanyl,postoperative bleeding,time of first press of the analgesic pump,and number of presses among three groups of patients were recorded and compared.The postoperative vital signs(mean arterial pressure and heart rate),pain level(NRS),comfort level(BCS)(1 h,6 h,12 h,and 24 h),and incidence of postoperative adverse reactions were observed and compared.Results This study included a total of 90 LA patients,with 30 cases in each group.The first press of the analgesic pump in the low concentration group was significantly shorter than that in the medium and high concentration groups(P<0.05),while the number of presses was significantly higher than the other two groups(P<0.05).The mean arterial pressure and heart rate significantly decreased with the increase of ropivacaine concentration at 1 hour after surgery(P<0.05);compared with 1 hour after surgery,the average arterial pressure and heart rate of patients in the medium concentration group and low concentration group significantly increased at 6 hours after surgery(P<0.05),and no significant changes occurred thereafter.The NRS scores of patients in the high concentration group were significantly lower than those in the medium and low concentration groups at all four postoperative time points(P<0.05);the NRS scores of patients in the medium concentration group were significantly lower than those in the low concentration group at four postoperative time points(P<0.05).The BCS scores of the low concentration higher than those of the medium concentration group and low concentration group an 1 h,6 h and 24 h.The incidence of adverse reactions in the high concentration group was significantly higher than that in the low concentration group and the medium concentration group(P<0.05);there was no significant difference in the incidence of adverse reactions between the medium concentration group and the low concentration group(P>0.05).Conclusion General anesthesia combined with 0.50%ropivacaine abdominal transverse muscle plane block has a significant analgesic effect and high comfort for patients undergoing LA,but the risk of postoperative adverse reactions is high,and the plan needs to be adjusted according to the actual situation.
8.Main characteristics and practical discussions of national drug standards for 196 kinds of Chinese medicine formula granules.
Lu LU ; Jun-Han SHI ; Di ZHANG ; Li-Jie MA ; Lu ZHANG ; Fu-Guo HOU ; Yan MIAO ; Xin-Jing GUI ; Xue-Lin LI ; Rui-Xin LIU
China Journal of Chinese Materia Medica 2022;47(16):4536-4544
As China is implementing the policy of "Announcement on Ending the Pilot Work of Chinese medicine formula gra-nules", the standard of Chinese medicine formula granules has gradually become the focus of industry development. Up to now, 196 national drug standards for Chinese medicine formula granules have been published by China, which guaranteed the production quality of Chinese medicine formula granules. However, there are still several challenges such as the rational application of national drug standards and the enrichment and improvement of varieties. The basic content of the issued national drug standards for Chinese medicine formula granules was analyzed and compared with the quality standard provisions of the corresponding decoction pieces in the Chinese Pharmacopoeia(2020 edition) in this paper. This paper discussed the main characteristics of paste-forming rate of each medicinal raw materials, "quantity-quality" transformation, equivalent ratio, and so on, and clarified the characteristics of the national standard for Chinese medicine formula granules. This paper provided references for achieving the unified quality control and meeting the overall quality requirements of Chinese medicine formula granules.
China
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Drugs, Chinese Herbal
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Medicine, Chinese Traditional
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Quality Control
9.Improvement effect of Lycium barbarum polysaccharide on the intestinal flora of pregnant rats and their offspring under chronic stress.
Gui Xiang YAO ; Shu Qin MA ; Feng ZHAO ; You Juan FU ; Su Zhen GUAN
Chinese Journal of Industrial Hygiene and Occupational Diseases 2022;40(9):649-655
Objective: To understand the improvement effect of Lycium barbarum polysaccharide (LBP) on the intestinal flora of mother mice during pregnancy and their offspring who experienced chronic stress, and provide new ideas for improving the effect of stress on the intestinal tract. Methods: From July to October 2019, 24 SPF-grade female SD rats were selected and divided into control group, stress group, and stress+LBP group, with 8 rats in each group. A chronic unpredictable mild stimulation model during pregnancy was established (21 days) , and 40 mg/kg LBP solution was administered by gavage on the 8th day of stress. Venous blood from the medial canthus of the female mice was collected on the 1st day before stress and on the 1st, 7th, 14th and 21st days, respectively. Cortisol was measured and corticosterone concentration was calculated. The fresh feces of famale mice after stress and 20-day postnatal offspring mice were collected, and Illumina Miseq sequencing technology, alpha diversity and community composition were used to analyze the diversity and structure of intestinal flora. Results: On the 7th and 14th days of stress, the plasma corticosterone concentration of female mice in the stress group and stress+LBP group was higher than that in the control group (P<0.05) . In the Alpha diversity of female mice, the Ace index of the stress group was lower than that of the control group (P<0.05) . The analysis of intestinal flora structure showed that at the species level, the proportions of Lachnospiraceae and Lactobacillus in the stress+LBP group were higher than those in the stress group and control group. At the order level, the proportion of Clostridiales in the stress+LBP group was higher than that in the stress group and lower than that in the control group, while the proportion of Lactobacillales was higher than that in the stress group and control group. In the Alpha diversity of the offspring group, the Shannon index, Ace index and Chao index of the stress+LBP offspring group were higher than those of the stress offspring group (P<0.05) . The proportion of Lactobacillus in the stress+LBP offspring group was higher than that in the control offspring group and stress offspring group, and the proportions of Lachnospiraceae and Ruminococcaceae in the stress+LBP offspring group were higher than those in the stress offspring group, the proportion of Bacteroidales in the stress+LBP offspring group was lower than that in the stress offspring group, and the proportion of Clostridiales in the stress+LBP offspring group was higher than that in the stress and control offspring groups. Conclusion: The intervention of LBP may improve the changes in the intestinal flora diversity, abundance and flora structure of mother mice and offspring caused by pregnancy stress, thereby maintaining the balance of intestinal flora.
Animals
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Corticosterone
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Drugs, Chinese Herbal/pharmacology*
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Female
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Gastrointestinal Microbiome
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Hydrocortisone
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Mice
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Pregnancy
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Rats
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Rats, Sprague-Dawley
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*
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Cryptorchidism/genetics*
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Disorders of Sex Development/genetics*
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Female
;
Genital Diseases, Male
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Genotype
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Humans
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Hypospadias/genetics*
;
Male
;
Membrane Proteins/genetics*
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Penis/abnormalities*
;
Phenotype
;
Retrospective Studies
;
Steroid 21-Hydroxylase/genetics*

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