1.Effect of Collagen Peptides on Function of Mouse T Lymphocytes under Simulated Microgravity
Shao-Yan SI ; Ya-Ya QIN ; Ying-Ying WU ; Xiao-Yu MA ; Ying SHANG ; Shu-Jun SONG ; Yan-Chuan GUO
Journal of Experimental Hematology 2024;32(4):1258-1263
Objective:To understand the effect of collagen peptides on the function of mouse lymphocytes under simulated microgravity.Methods:The splenocytes of mice were isolated,and the rotary cell culture system was used to simulate the microgravity.The T lymphocytes were stimulated with mitotic agents,concanavalin A(ConA),and the cells were treated with different concentrations of collagen peptides.The proliferation of lymphocytes and the levels of cytokines in the supernatant were detected.Results:Simulated microgravity could inhibit the proliferation of spleen T lymphocytes and decrease the level of cytokines in the supernatant.Collagen peptides could promote the lymphocyte proliferation and cytokine production in cells cultured under simulated microgravity.Conclusion:Collagen peptides may attenuate the inhibitory effect of simulated microgravity on T lymphocytes by regulating the cell proliferation and the secretion of cytokines.
2.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.
3.Research status of Wnt5a-Frizzled-2 pathway and ischemia-reperfusion injury
Zhi-Peng SUN ; Shu-Su DONG ; Chuan-Cheng MA ; Chen-Ying WANG ; Fei CHEN ; Hai-Ying WANG
The Chinese Journal of Clinical Pharmacology 2024;40(13):1972-1976
The Wnt signaling pathway includes both classical and non classical pathways,Wnt5a-Frizzled-2 pathway participates in the Wnt/Ca2+signaling pathway in the non-classical pathway,which is activated by the Wnt-related protein Wnt5a and its ligand Frizzled-2.It can regulate some key sites in cells to affect cell signal transduction,and is closely related to cell growth process.Activation of Wnt5a-Fizzled-2 pathway occurs in some tissues with abundant blood supply,such as heart and brain tissues,during ischemia-reperfusion.Activation of the Wnt5a-Frizzled-2 pathway causes these intracellular calcium overload,ultimately promoting apoptosis.This article reviews the abnormal activation of Wnt5a-Frizzled-2 signaling pathway in ischemia-reperfusion injury diseases and the induced calcium overload leading to apoptosis,in order to provide reference for the study of physiological mechanisms of ischemia-reperfusion injury.
4.Astragalin Inhibits Apoptosis of Cerebral Cortex Neurons in APP/PS1 Mice
Shu-han WANG ; Cui-zhu YANG ; Run-heng ZHANG ; Jia-hong LIN ; Ya-qi YANG ; Jing LIU ; Guo-ying LI ; Yu-xin MA
Journal of Sun Yat-sen University(Medical Sciences) 2023;44(6):983-990
ObjectiveTo investigate the effect of Astragalin (AST) on apoptosis of cerebral cortex neurons in APP/PS1 transgenic mice. MethodsEighteen six-month-old male APP/PS1 transgenic mice were randomly divided into APP/PS1 group, APP/PS1+ 40 mg/kg AST group and APP/PS1+ 20 mg/kg Donepezil (DNP) group, with six mice in each group. At the same time, six male C57BL/6 mice were selected as the normal control group. After intraperitoneal injection of AST once a day and continuous administration for one month, we used Tunel staining to detect the apoptosis of neurons in the cerebral cortex of APP/PS1 mice; immunofluorescent staining to examine the expression of apoptosis-related proteins Bax, Bcl-2, Caspase9 and Cleaved-Caspase3 in the cerebral cortex neurons of APP/PS1 mice; Western blot method to evaluate the changes of the expression of Bax, Bcl-2, Caspase9 and Caspase3. ResultsTunel staining showed that 40 mg/kg AST and 20 mg/kg DNP both reduced the apoptosis of neurons in the cerebral cortex of APP/PS1 mice, AST with more significant inhibition effect. Immunofluorescent staining revealed that 40 mg/kg AST and 20 mg/kg DNP both inhibited the expression of Bax, Caspase9, and Cleaved-Caspase3, and icreased the expression of Bcl-2 in the cerebral cortex neurons of APP/PS1 mice. Western blot results further confirmed that 40 mg/kg AST and 20 mg/kg DNP both down-regulated the expression of Bax (P < 0.05, P < 0.05), Caspase9 (P < 0.005, P < 0.05) and Caspase3 (P < 0.0001, P < 0.0001) , and up-regulated the expresstion of Bcl-2 (P < 0.05, P < 0.05) in the cerebral cortex neurons of APP/PS1 mice. ConclusionsAST can inhibit the apoptosis of cerebral cortex neurons in APP/PS1 mice.
5.Clinicopathologic features and prognosis of young renal tumors with tumor thrombus.
Zi Xuan XUE ; Shi Ying TANG ; Min QIU ; Cheng LIU ; Xiao Jun TIAN ; Min LU ; Jing Han DONG ; Lu Lin MA ; Shu Dong ZHANG
Journal of Peking University(Health Sciences) 2023;55(5):802-811
OBJECTIVE:
To retrospectively analyze clinical data of patients under 40 years old who underwent surgical treatment for renal tumors with tumor thrombus from January 2016 to December 2022 at Peking University Third Hospital, and to evaluate the surgical effect and investigate the relationship between clinicopathological characteristics and prognosis.
METHODS:
The clinical data of 17 young patients with renal tumor thrombus were retrospectively analyzed, and the clinicopathological features and prognosis were summarized. The patients were grouped according to the presence or absence of symptoms, 2017 American Joint Committee on Cancer (AJCC) clinical stage, and postoperative combined adjuvant therapy. Kaplan-Meier method was used to plot the survival curve, and Log-rank test was used to compare the differences in postoperative survival time and progression-free survival time between the different groups. The relationship between clinicopathological features and prognosis was analyzed.
RESULTS:
All the 17 patients received venous tumor thrombectomy, including 16 patients (94.1%) who underwent radical nephrectomy and 1 patient (5.9%) who underwent partial nephrectomy. Twelve patients (70.6%) had symptoms and 5 (29.4%) had no symptoms before operation. A total of 17 renal tumors were observed, with 2 patients (11.8%) identified as benign and 15 patients (88.2%) classified as malignant. Among the malignant tumors, 1 patient (6.7%) was diagnosed as clear cell carcinoma, while the remaining 14 patients (93.3%) were categorized as non-clear cell carcinoma. In terms of tumor stage, 8 patients (53.3%) were classified as stage Ⅲ according to the AJCC classification, while 7 patients (46.7%) were categorized as stage Ⅳ. Additionally, 6 patients (40%) received multiple adjuvant therapy, while 9 patients (60%) did not undergo such treatment. The follow-up period ranged from 2 to 78 months, with a median follow-up of 41 months. During this time, 3 patients (20%) died. The median survival time after surgery was 39.0 (2.3, 77.8) months, and the progression-free survival time was 16.4 (2.3, 77.8) months. There was no significant difference in postoperative survival time and progression-free survival time among young patients with renal tumor with tumor thrombus, based on the presence of symptoms before surgery (P=0.307, P=0.302), clinical stage of AJCC (P=0.340, P=0.492), and postoperative adjuvant therapy (P=0.459, P=0.253) group.
CONCLUSION
The pathological types of young patients with renal tumor with tumor thrombus are more complex and varied due to symptoms, and the proportion of non-clear cell carcinoma in malignant tumor with tumor thrombus is higher. Symptomatic and non-clear cell carcinoma may be potentially associated with poor prognosis. Surgical operation combined with adjuvant therapy is a relatively safe and effective treatment for young patients with renal tumor and tumor thrombus.
Humans
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Adult
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Carcinoma, Renal Cell/surgery*
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Retrospective Studies
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Vena Cava, Inferior/surgery*
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Kidney Neoplasms/surgery*
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Prognosis
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Thrombosis/surgery*
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Thrombectomy/methods*
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Nephrectomy/methods*
6.Effect evaluation of medical equipment procurement demand presentation based on function prepositioning
Quan-Quan LI ; Zhi-Ling WANG ; Xin-Yi HUANG ; Shu-Ying LI ; Ming QIU ; Ke MA
Chinese Medical Equipment Journal 2023;44(9):88-91
Objective To explore the influence of prepositioned service on medical equipment procurement demand presentation.Methods An observation group was established with the projects involving the material purchasing department in medical equipment procurement demand presentation in 2022,and a control group was formed with the projects not involving the material purchasing department in 2021.The two groups were compared in terms of presentation modification rate,rate of parameter challenge,success rate of parameter challenge and annual department satisfaction.Results The rate of parameter challenge and success rate of parameter challenge in the observation group were 8.37%,3.04%and 1.14%respec-tively,which were significantly lower than those(15.45%,6.67%and 3.94%respectively)in the control group(all P<0.05);the mean value of the annual departmental satisfaction of the observation group was(82.25±8.01)points,which was significantly higher than that of the control group(73.51±8.91)points(P<0.05).Conclusion The involvement of the material purchasing department in clinical department demand presentation effectively enhances medical equipment procurement demand presentation and satisfaction of clinical departments for the material purchasing department.[Chinese Medical Equipment Journal,2023,44(9):88-91]
7.Residual coronary artery tree description and lesion EvaluaTion (CatLet) score, clinical variables, and their associations with outcome predictions in patients with acute myocardial infarction.
Mingxing XU ; Shu WANG ; Ying ZHANG ; Jie ZHANG ; Jin MA ; Junfei SHEN ; Yida TANG ; Tingbo JIANG ; Yongming HE
Chinese Medical Journal 2023;136(20):2459-2467
BACKGROUND:
We have recently developed a new Coronary Artery Tree description and Lesion EvaluaTion (CatLet) angiographic scoring system. Our preliminary studies have demonstrated its superiority over the the Synergy between percutaneous coronary intervention (PCI) with Taxus and Cardiac Surgery (SYNTAX) score with respect to outcome predictions for acute myocardial infarction (AMI) patients. The current study hypothesized that the residual CatLet (rCatLet) score predicts clinical outcomes for AMI patients and that a combination with the three clinical variables (CVs)-age, creatinine, and ejection fraction, will enhance its predicting values.
METHODS:
The rCatLet score was calculated retrospectively in 308 consecutively enrolled patients with AMI. Primary endpoint, major adverse cardiac or cerebrovascular events (MACCE) including all-cause mortality, non-fatal AMI, transient ischemic attack/stroke, and ischemia-driven repeat revascularization, was stratified according to rCatLet score tertiles: rCatLet_low ≤3, rCatLet_mid 4-11, and rCatLet_top ≥12, respectively. Cross-validation confirmed a reasonably good agreement between the observed and predicted risks.
RESULTS:
Of 308 patients analyzed, the rates of MACCE, all-cause death, and cardiac death were 20.8%, 18.2%, and 15.3%, respectively. Kaplan-Meier curves for all endpoints showed increasing outcome events with the increasing tertiles of the rCatLet score, with P values <0.001 on trend test. For MACCE, all-cause death, and cardiac death, the area under the curves (AUCs) of the rCatLet score were 0.70 (95% confidence intervals [CI]: 0.63-0.78), 0.69 (95% CI: 0.61-0.77), and 0.71 (95% CI: 0.63-0.79), respectively; the AUCs of the CVs-adjusted rCatLet score models were 0.83 (95% CI: 0.78-0.89), 0.87 (95% CI: 0.82-0.92), and 0.89 (95% CI: 0.84-0.94), respectively. The performance of CVs-adjusted rCatLet score was significantly better than the stand-alone rCatLet score in terms of outcome predictions.
CONCLUSION:
The rCatLet score has a predicting value for clinical outcomes for AMI patients and the incorporation of the three CVs into the rCatLet score will enhance its predicting ability.
TRIAL REGISTRATION
http://www.chictr.org.cn , ChiCTR-POC-17013536.
Humans
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Coronary Artery Disease/complications*
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Death
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Myocardial Infarction/etiology*
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Percutaneous Coronary Intervention
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Retrospective Studies
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Risk Assessment
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Risk Factors
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Treatment Outcome
8.Efficacy of crisaborole ointment in clinical symptom relief in the early stage of childhood atopic dermatitis and in symptom improvement in the remission stage: a multicenter clinical study
Shan WANG ; Xingyu WANG ; Hong SHU ; Bin ZHANG ; Hang SHI ; Huan YANG ; Qiufang QIAN ; Hongyan MA ; Yuan LIANG ; Mutong ZHAO ; Chunping SHEN ; Lei JIAO ; Jing TIAN ; Yang WANG ; Ying GU ; Jing SUN ; Ying LIU ; Ping LI ; Hua WANG ; Lin MA
Chinese Journal of Dermatology 2023;56(9):815-821
Objective:To evaluate the efficacy and tolerability of crisaborole 2% ointment in the treatment of childhood atopic dermatitis (AD) at the early stage, and to compare the efficacy of every-other-day (Qod) regimen versus twice-a-week (Biw) regimen against recurrence in the remission stage of AD.Methods:A multicenter, randomized, open-label clinical trial was conducted. Totally, 150 children with mild to moderate AD aged 2 - < 18 years were enrolled from 6 hospitals (including Beijing Children′s Hospital, Capital Medical University, etc), and randomly divided into the Qod group (76 cases) and the Biw group (74 cases). In the acute stage of AD, both groups were treated with topical crisaborole 2% ointment on skin lesions twice a day for 2 - 4 weeks, as well as with emollients throughout the whole body. The improvement of early clinical symptoms was evaluated, and the occurrence of adverse reactions was recorded in the follow up. Once the investigator′s static global assessment (ISGA) scores decreased to 1 point or less, the patient would be enrolled into the remission stage. In the remission stage of AD, patients in the Qod group and Biw group were treated with crisaborole ointment every other day and twice a week respectively; the recurrence rate of AD in the remission stage was evaluated, as well as the severity of skin lesions, itching, life quality, and the occurrence of adverse reactions at weeks 4, 8, and 12. Statistical analysis was carried out with SPSS 23.0 software by using t test for comparisons of normally distributed continuous data between two groups, Mann-Whitney U test for non-normally distributed data, chi-square test for enumeration data, and Kaplan-Meier method for analysis of survival rates. Results:A total of 142 patients were enrolled in the modified intention-to-treat population, including 71 in the Qod group and 71 in the Biw group. In the acute stage of AD, the improvement of itching and skin lesions self-reported by the children or their family members occurred on days 1.9 (1.0, 3.0) and 2.0 (1.0, 4.1) after the application of crisaborole ointment, respectively. At the end of treatment in the acute stage, 89 children (62.7%) achieved ISGA 0/1 and successfully transferred into the remission stage. The follow-up in the remission stage was completed in 83 patients (44 in the Qod group and 39 in the Biw group). In addition, recurrence occurred in 19 (43.2%) and 12 (30.8%) patients in the Qod group and Biw group respectively, and there was no significant difference in the recurrence rate between the two groups ( χ2 = 1.36, P = 0.243) ; the average time to recurrence was 64.25 (95% CI: 53.33 - 75.17) days and 75.78 (95% CI: 65.46 - 86.10) days in the Qod group and Biw group respectively. Among the patients who were in the remission stage and had not yet experienced relapse at weeks 4, 8, and 12, there were no significant differences in the eczema area and severity index (EASI) scores, ISGA scores, pruritus numerical rating scale (NRS) scores, or quality-of-life scores between the two groups (all P > 0.05) at any time points, except for the ISGA scores at week 12 (Biw group: 0 [0, 1] point vs. Qod group: 1 [0, 1] point; Z = -2.31, P = 0.021). A total of 146 patients were enrolled in the safety set. During the study period, 70 adverse events occurred in 65 patients, with an incidence rate of 44.5%, and all were mild or moderate adverse events; 55 (37.7%) patients experienced discomfort at the medication site, which mainly referred to pain (45 cases, 30.8%) and mostly occurred in the tender and skinfold areas. Conclusions:Crisaborole 2% ointment could effectively relieve clinical symptoms in children with mild to moderate AD in the early stage, and intermittent treatment could continuously relieve clinical symptoms in the remission stage. The common adverse reaction was discomfort at the application site in the early stage of AD. There was no significant difference in the impact on AD recurrence in the remission stage between the Qod regimen and Biw regimen.
9.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*
;
Female
;
Genital Diseases, Male
;
Genotype
;
Humans
;
Hypospadias/genetics*
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Male
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Membrane Proteins/genetics*
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Penis/abnormalities*
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Phenotype
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Retrospective Studies
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Steroid 21-Hydroxylase/genetics*
10.Astragalin Alleviates Neuronal Damage and Senile Plaque Deposition via Activating Autophagy in the Cortex of APP/PS1 Transgenic Mice
Cui-zhu YANG ; Run-heng ZHANG ; Shu-han WANG ; Yu-yun JIANG ; Jing LIU ; Guo-ying LI ; Yu-xin MA
Journal of Sun Yat-sen University(Medical Sciences) 2022;43(2):238-246
ObjectiveTo explore the effect of astragalin (AST) on neurons and Aβ plaques in the cortex of APP/PS1 transgenic mice. MethodsTwenty-four 8-month-old male APP/PS1 transgenic mice were randomly divided into APP/PS1 group, 10 mg/kg AST (APP/PS1+AST 10) group, and 20 mg/kg AST (APP/PS1+AST 20) group, 40 mg/kg AST (APP/PS1+AST 40) group, with 6 mice in each group. Six C57BL/6 male mice of the same age served as the control group (WT group). AST drugs were continuously injected intraperitoneally for one month. Then Immunofluorescent staining was used to observe the deposition of Aβ plaques in the cortex. Nissl staining was used to observe the number and morphological changes of neurons in the cortex, and immunofluorescent multiple staining methods were used to observe the co-expression of LC3B, p62 and NeuN in the cortex. Then the expressions of NeuN, LC3B, and p62 protein were detected by Western blot method. ResultsImmunofluorescent staining results showed 20 mg/kg and 40 mg/kg AST reduced Aβ plaques deposition in the cortex of APP/PS1 mice (P < 0.000 1; P < 0.000 1). Western blot analysis showed both 20 and 40 mg/kg AST increased the expression of NeuN protein in the cortex of APP/PS1 mice (P = 0.012 1; P < 0.000 1). Immunofluorescent multiplex staining showed co-expression of LC3B, p62, and NeuN in the cortex of APP/PS1 mice. Western blot analysis showed AST increased the expression of LC3B (P = 0.007, P < 0.000 1) and decreased the expression of p62 (P < 0.000 1, P < 0.000 1) in the cortex of APP/PS1 mice. ConclusionsAST reduces neuronal damage and Aβ plaques deposition in the cortex of APP/PS1 mice by activating autophagy.

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