1.Identification of blood-entering components of Anshen Dropping Pills based on UPLC-Q-TOF-MS/MS combined with network pharmacology and evaluation of their anti-insomnia effects and mechanisms.
Xia-Xia REN ; Jin-Na YANG ; Xue-Jun LUO ; Hui-Ping LI ; Miao QIAO ; Wen-Jia WANG ; Yi HE ; Shui-Ping ZHOU ; Yun-Hui HU ; Rui-Ming LI
China Journal of Chinese Materia Medica 2025;50(7):1928-1937
This study identified blood-entering components of Anshen Dropping Pills and explored their anti-insomnia effects and mechanisms. The main blood-entering components of Anshen Dropping Pills were detected and identified by UPLC-Q-TOF-MS/MS. The rationality of the formula was assessed by using enrichment analysis based on the relationship between drugs and symptoms, and core targets of its active components were selected as the the potential anti-insomnia targets of Anshen Dropping Pills through network pharmacology analysis. Furthermore, protein-protein interaction(PPI) network, Gene Ontology(GO) enrichment analysis, and Kyoto Encyclopedia of Genes and Genomes(KEGG) pathway analysis were performed on the core targets. An active component-core target network for Anshen Dropping Pills was constructed. Finally, the effects of low-, medium-, and high-dose groups of Anshen Dropping Pills on sleep episodes, sleep duration, and sleep latency in mice were measured by supraliminal and subliminal pentobarbital sodium experiments. Moreover, total scores of the Pittsburgh sleep quality index(PSQI) scale was used to evaluate the changes before and after the treatment with Anshen Dropping Pills in a clinical study. The enrichment analysis based on the relationship between drugs and symptoms verified the rationality of the Anshen Dropping Pills formula, and nine blood-entering components of Anshen Dropping Pills were identified by UPLC-Q-TOF-MS/MS. The network proximity revealed a significant correlation between eight components and insomnia, including magnoflorine, liquiritin, spinosin, quercitrin, jujuboside A, ginsenoside Rb_3, glycyrrhizic acid, and glycyrrhetinic acid. Network pharmacology analysis indicated that the major anti-insomnia pathways of Anshen Dropping Pills involved substance and energy metabolism, neuroprotection, immune system regulation, and endocrine regulation. Seven core genes related to insomnia were identified: APOE, ALB, BDNF, PPARG, INS, TP53, and TNF. In summary, Anshen Dropping Pills could increase sleep episodes, prolong sleep duration, and reduce sleep latency in mice. Clinical study results demonstrated that Anshen Dropping Pills could decrease total scores of PSQI scale. This study reveals the pharmacodynamic basis and potential multi-component, multi-target, and multi-pathway effects of Anshen Dropping Pills, suggesting that its anti-insomnia mechanisms may be associated with the regulation of insomnia-related signaling pathways. These findings offer a theoretical foundation for the clinical application of Anshen Dropping Pills.
Animals
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Drugs, Chinese Herbal/administration & dosage*
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Tandem Mass Spectrometry/methods*
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Sleep Initiation and Maintenance Disorders/metabolism*
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Mice
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Network Pharmacology
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Male
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Chromatography, High Pressure Liquid
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Humans
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Protein Interaction Maps/drug effects*
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Sleep/drug effects*
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Female
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Adult
2.Network Meta-analysis of Chinese medicine injection for cerebral small vessel disease.
Qi-Lin DU ; Rui FANG ; Hui-Fang NIE ; Zhi-Gang MEI ; Jin-Wen GE
China Journal of Chinese Materia Medica 2025;50(9):2563-2581
Network Meta-analysis was conducted to evaluate the efficacy and safety of different traditional Chinese medicine injections combined with conventional western medicine in treatment of cerebral small vessel disease(CSVD). Computerized searches were conducted in PubMed, Cochrane Library, Web of Science, EMbase, CNKI, Wanfang, VIP, and SinoMed for randomized controlled trial(RCT) published in Chinese or English using traditional Chinese medicine injections to treat CSVD. The search time is from the inception to July 15, 2024. Literature screening and statistical analysis were conducted with NoteExpress 3.0.3, RevMan 5.3.5, and Stata 15.1.6. A total of 45 articles were included, involving 3 717 patients, with 1 944 patients in the treatment group and 1 773 patients in the control group. A total of 15 kinds of traditional Chinese medicine injections were involved. Network Meta-analysis indicated that,(1) in terms of improving clinical total effective rate, the best intervention in SUCRA was Ciwujia Injection + conventional western medicine.(2) In terms of reducing NIHSS scores, the best intervention in SUCRA was Xueshuantong Injection + conventional western medicine.(3) In terms of improving ADL scores, the best intervention in SUCRA was Danshen Injection + conventional western medicine.(4) In terms of improving MMSE scores, the best intervention in SUCRA was Xueshauntong Injection + conventional western medicine.(5) In terms of improving MoCA scores, the best intervention in SUCRA was Salvianolate Injection + conventional western medicine.(6) In terms of reducing plasma viscosity(PV), the best intervention in SUCRA was Danhong Injection + conventional western medicine.(7) In terms of reducing the hematocrit, the best intervention in SUCRA was Xuesaitong Injection + conventional western medicine.(8) In terms of reducing fibrinogen, the best intervention in SUCRA was Xuesaitong Injection + conventional western medicine.(9) In terms of reducing erythrocyte sedimentation rate(ESR), the best intervention in SUCRA was Danshen Injection + conventional western medicine.(10) In terms of reducing total cholesterol(TC), triglycerides(TG), and low-density lipoprotein(LDL), the best intervention in SUCRA was Danshen Injection + conventional western medicine. The radar chart results indicated that the advantage of Salvianolate Injection lies in improving cognitive function, while the advantage of Xueshuantong Injection lies in improving neurological function. The advantage of Xuesaitong Injection lies in improving hemodynamic parameters, and the advantage of Danshen Injection lies in improving behavioral ability, hemodynamics, and blood lipid levels. In terms of safety, there was no significant difference in the incidence of adverse reactions between the traditional Chinese medicine injection treatment group and the conventional western medicine group, and no serious adverse reactions occurred. The results showed that the combination of traditional Chinese medicine injections and conventional western medicine can effectively improve the clinical total effective rate, the neurological and cognitive functions, hemodynamic parameters, and blood lipid levels of patients suffering from CSVD. In addition, more double-blind, multi-center, large-sample RCT is needed to verify these findings and to provide more high-quality evidence on the efficacy and safety of traditional Chinese medicine injections for CSVD.
Humans
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Cerebral Small Vessel Diseases/drug therapy*
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Drugs, Chinese Herbal/administration & dosage*
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Injections
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Randomized Controlled Trials as Topic
3.Evidence evaluation of 12 commonly-used Chinese patent medicines in treatment of osteoporosis based on Eff-iEC and GRADE.
Guang-Cheng WEI ; Zhi-Long ZHANG ; Xin-Wen ZHANG ; Ye LUO ; Jin-Jie SHI ; Rui MA ; Jie-Yang DU ; Ke ZHU ; Jiu-Cheng PENG ; Yu-Long YA ; Wei CAO
China Journal of Chinese Materia Medica 2025;50(15):4372-4385
This study applied the grading of recommendations assessment, development and evaluation(GRADE) system and the integrated evidence chain-based effectiveness evaluation of traditional Chinese medicine(Eff-iEC) to evaluate the evidence for 12 commonly used Chinese patent medicines for the treatment of osteoporosis, which are frequently recommended in guidelines or expert consensuses. The results showed that Xianling Gubao Capsules/Tablets were rated as C(low-level evidence) according to the GRADE system, and as BA~+B~+(intermediate evidence) according to the Eff-iEC system. Jintiange Capsules were rated as C(low-level evidence) by the GRADE system, and as AA~+B(high-level evidence) by the Eff-iEC system. Gushukang Granules/Capsules were rated as C(low-level evidence) by GRADE system, and as BA~+B~+(intermediate evidence) by Eff-iEC system. Zuogui Pills were rated as C(low-level evidence) by GRADE system, and as AA~(++)B~+(high-level evidence) by Eff-iEC system. Qianggu Capsules were rated as D(extremely low-level evidence) by GRADE system, and as AA~+B~+(high-level evidence) by Eff-iEC system. Zhuanggu Zhitong Capsules were rated as D(extremely low-level evidence) by GRADE system, and as BA~+B(intermediate evidence) by Eff-iEC system. Jingui Shenqi Pills were rated as D(extremely low-level evidence) by GRADE system, and as AA~+B(high-level evidence) by Eff-iEC system. Quanduzhong Capsules were rated as D(extremely low-level evidence) by GRADE system, and as AD~+B~+(low-level evidence) by Eff-iEC system. Epimedium Total Flavones Capsules were rated as D(extremely low-level evidence) by GRADE system, and as AAB~+(high-level evidence) by Eff-iEC system. Yougui Pills were rated as D(extremely low-level evidence) by GRADE system, and as AA~(++)B~(+ )(high-level evidence) by Eff-iEC system. Qigu Capsules were rated as D(extremely low-level evidence) by GRADE system, and as BB~+B(intermediate evidence) by Eff-iEC system. Liuwei Dihuang Pills were rated as C(low-level evidence) by GRADE system, and as AA~(++)B~+(high-level evidence) by Eff-iEC system. Overall, the Eff-iEC system provides a more comprehensive assessment of the effectiveness evidence for traditional Chinese medicine(TCM) than the GRADE system. However, it still has certain limitations that hinder its wider promotion and application. In terms of clinical evidence evaluation, both the Eff-iEC and GRADE systems reflect that the current clinical research quality on Chinese patent medicines for the treatment of osteoporosis is generally low. High-quality clinical trials are still needed in the future to further validate clinical efficacy.
Drugs, Chinese Herbal/therapeutic use*
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Osteoporosis/drug therapy*
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Humans
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Nonprescription Drugs/therapeutic use*
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Evidence-Based Medicine
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Medicine, Chinese Traditional
4.Early prediction and warning of MODS following major trauma via identification of cytokine storm: A prospective cohort study.
Panpan CHANG ; Rui LI ; Jiahe WEN ; Guanjun LIU ; Feifei JIN ; Yongpei YU ; Yongzheng LI ; Guang ZHANG ; Tianbing WANG
Chinese Journal of Traumatology 2025;28(6):391-398
PURPOSE:
Early mortality in major trauma has decreased, but MODS remains a leading cause of poor outcomes, driven by trauma-induced cytokine storms that exacerbate injuries and organ damage.
METHODS:
This prospective cohort study included 79 major trauma patients (ISS >15) treated in the National Center for Trauma Medicine, Peking University People's Hospital, from September 1, 2021, to July 31, 2023. Patients (1) with ISS >15 (according to AIS 2015), (2) aged 15-80 years, (3) admitted within 6 h of injury, (4) having no prior treatment before admission, were included. Exclusion criteria were (1) GCS score <9 or AIS score ≥3 for TBI, (2) confirmed infection, infectious disease, or high infection risk, (3) pregnancy, (4) severe primary diseases affecting survival, (5) recent use of immunosuppressive or cytotoxic drugs within the past 6 months, (6) psychiatric patients, (7) participation in other clinical trials within the past 30 days, (8) patients with incomplete data or missing blood samples. Admission serum inflammatory cytokines and pathophysiological data were analyzed to develop machine learning models predicting MODS within 7 days. LR, DR, RF, SVM, NB, and XGBoost were evaluated based on the area under the AUROC. The SHAP method was used to interpret results.
RESULTS:
This study enrolled 79 patients with major trauma, and the median (Q1, Q3) age was 51 (35, 59) years (52 males, 65.8%). The inflammatory cytokine data were collected for all participants. Among these patients, 35 (44.3%) developed MODS, and 44 (55.7%) did not. Additionally, 2 patients (2.5%) from the MODS group succumbed. The logistic regression model showed strong performance in predicting MODS. Ten key cytokines, IL-18, Eotaxin, MCP-4, IP-10, CXCL12, MIP-3α, MCP-1, IL-1RA, Cystatin C, and MRP8/14 were identified as critical to the trauma-induced cytokine storm and MODS development. Early elevation of these cytokines achieved high predictive accuracy, with an AUROC of 0.887 (95% CI 0.813-0.976).
CONCLUSION
Trauma-induced cytokine storms are strongly associated with MODS. Early identification of inflammatory cytokine changes enables better prediction and timely interventions to improve outcomes.
Humans
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Prospective Studies
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Middle Aged
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Male
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Female
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Adult
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Aged
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Cytokine Release Syndrome/etiology*
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Adolescent
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Young Adult
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Aged, 80 and over
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Wounds and Injuries/complications*
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Cytokines/blood*
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Multiple Organ Failure/diagnosis*
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Machine Learning
5.Comparing Outcomes of Banana-Shaped and Straight Cages in Transforaminal Lumbar Interbody Fusion for Lumbar Degenerative Diseases: A Systematic Review and Meta-Analysis
Guang-Xun LIN ; Li-Ru HE ; Jin-Niang NAN ; Wen-Bin XU ; Keyi XIAO ; Zhiqiang QUE ; Shang-Wun JHANG ; Chien-Min CHEN ; Ming-Tao ZHU ; Gang RUI
Neurospine 2024;21(1):261-272
Objective:
This meta-analysis aims to refine the understanding of the optimal choice between different cage shapes in transforaminal lumbar interbody fusion (TLIF) by systematically comparing perioperative data, radiological outcomes, clinical results, and complications associated with banana-shaped and straight bullet cages.
Methods:
A meticulous literature search encompassing PubMed, Embase, Scopus, Web of Science, China Knowledge Network, and Wanfang Data was executed up to October 5, 2023. Inclusion criteria focused on studies comparing banana-shaped and straight bullet cages in TLIF. The quality of included studies was assessed using appropriate tools such as the Newcastle-Ottawa Scale (NOS) for nonrandomized studies. Rigorous evaluations were performed for radiographic outcomes, including disc height (DH), segmental lordosis (SL), lumbar lordosis (LL), subsidence, and fusion rates. Clinical outcomes were meticulously evaluated using visual analogue scale (VAS), Oswestry Disability Index (ODI), and complications.
Results:
The analysis incorporated 7 studies, involving 573 patients (297 with banana-shaped cages, 276 with straight cages), all with NOS ratings exceeding 5 stars. No statistically significant differences were observed in operative time, blood loss, or hospitalization between the 2 cage shapes. Banana-shaped cages exhibited greater changes in DH (p = 0.001), SL (p = 0.02), and LL (p = 0.01). Despite statistically higher changes in ODI for straight cages (26.33, p < 0.0001), the actual value remained similar to banana-shaped cages (26.15). Both cage types demonstrated similar efficacy in VAS, complication rates, subsidence, and fusion rates.
Conclusion
Although banana-shaped cages can excel in restoring DH, SL, and LL, straight bullet cages can provide comparable functional improvements, pain relief, and complication rates.
6.Comparing Outcomes of Banana-Shaped and Straight Cages in Transforaminal Lumbar Interbody Fusion for Lumbar Degenerative Diseases: A Systematic Review and Meta-Analysis
Guang-Xun LIN ; Li-Ru HE ; Jin-Niang NAN ; Wen-Bin XU ; Keyi XIAO ; Zhiqiang QUE ; Shang-Wun JHANG ; Chien-Min CHEN ; Ming-Tao ZHU ; Gang RUI
Neurospine 2024;21(1):261-272
Objective:
This meta-analysis aims to refine the understanding of the optimal choice between different cage shapes in transforaminal lumbar interbody fusion (TLIF) by systematically comparing perioperative data, radiological outcomes, clinical results, and complications associated with banana-shaped and straight bullet cages.
Methods:
A meticulous literature search encompassing PubMed, Embase, Scopus, Web of Science, China Knowledge Network, and Wanfang Data was executed up to October 5, 2023. Inclusion criteria focused on studies comparing banana-shaped and straight bullet cages in TLIF. The quality of included studies was assessed using appropriate tools such as the Newcastle-Ottawa Scale (NOS) for nonrandomized studies. Rigorous evaluations were performed for radiographic outcomes, including disc height (DH), segmental lordosis (SL), lumbar lordosis (LL), subsidence, and fusion rates. Clinical outcomes were meticulously evaluated using visual analogue scale (VAS), Oswestry Disability Index (ODI), and complications.
Results:
The analysis incorporated 7 studies, involving 573 patients (297 with banana-shaped cages, 276 with straight cages), all with NOS ratings exceeding 5 stars. No statistically significant differences were observed in operative time, blood loss, or hospitalization between the 2 cage shapes. Banana-shaped cages exhibited greater changes in DH (p = 0.001), SL (p = 0.02), and LL (p = 0.01). Despite statistically higher changes in ODI for straight cages (26.33, p < 0.0001), the actual value remained similar to banana-shaped cages (26.15). Both cage types demonstrated similar efficacy in VAS, complication rates, subsidence, and fusion rates.
Conclusion
Although banana-shaped cages can excel in restoring DH, SL, and LL, straight bullet cages can provide comparable functional improvements, pain relief, and complication rates.
7.Research progress in brachial ankle pulse wave velocity and cardiovascular risk factors
Rui-Jin LI ; Yue-Wen LIU ; Pei-Pei HAN ; Ying YU
Chinese Journal of cardiovascular Rehabilitation Medicine 2024;33(3):327-330
Cardiovascular disease(CVD)has become a significant public health issue both domestically and globally.This article summarizes the role and predictive value of brachial ankle pulse wave velocity(baPWV)in CVD,the relationships between baPWV and CVD risk factors such as age,blood pressure,heart rate,dyslipidemia,diabetes and chronic kidney disease etc.,and the latest threshold value and limitations of baPWV.These findings may pro-vide a theoretical basis for the use of baPWV as a screening tool for the prevention and treatment of arteriosclerosis and CVD in large populations.Additionally,it suggests that it's a very important and feasible goal to early screen and manage potential CVD patients or CVD patients.
8.Research on the enrollment status of students in Master's Degree Program in Pediatrics in China and the countermeasures
Mingyue WEN ; Xin JIN ; Jinzhong JIA ; Zhisheng LIANG ; Yuexin LI ; Rui ZHU ; Mengquan LIU ; Qi YAN ; Mengting ZHANG ; Zhiqiang WANG
Chinese Journal of Medical Education Research 2024;23(9):1197-1202
Objective:To investigate the enrollment scale and distribution of Master's Degree in Pediatrics programs in China, and to provide a reference for promoting pediatric education and disciplinary development.Methods:Data on colleges and universities authorized to award Master's Degree in Pediatrics in 2023 were collected, sorted, and analyzed for the number, structure, distribution, and enrollment scale and direction of these institutions using descriptive statistics.Results:Among the 117 clinical medicine academic master's degree programs in China, 72 enroll pediatric academic master's degree candidates, with an enrollment of 260 students. Among the 120 master's degree programs in clinical medicine, 104 enroll professional master's degree candidates, enrolling 1 195 students. Enrollment is mainly concentrated in East China, "non-double first-class" colleges and universities, medical colleges and universities with subject level B, and enrollment is carried out in the direction of secondary disciplines.Conclusions:The number of colleges and universities authorized to award Master's Degree in Pediatrics was small, and the distribution of these colleges and universities was unbalanced. The enrollment scale was small and the orientation of Professional Master's Degree was not reasonable. Some colleges and universities were authorized to award Master's Degree in Pediatrics, but did not enroll any students. It is suggested to increase the number of colleges and universities authorized to award Master's Degree in Pediatrics and strengthen the staffing of pediatric departments. The aim is to expand the enrollment scale of candidates for Master's Degree in Pediatrics, improving the differential training of candidates for Academic Master's Degree and Professional Master's Degree, and attach importance to the construction of pediatrics.
9.Changing resistance profiles of Enterobacter isolates in hospitals across China:results from the CHINET Antimicrobial Resistance Surveillance Program,2015-2021
Shaozhen YAN ; Ziyong SUN ; Zhongju CHEN ; Yang YANG ; Fupin HU ; Demei ZHU ; Yi XIE ; Mei KANG ; Fengbo ZHANG ; Ping JI ; Zhidong HU ; Jin LI ; Sufang GUO ; Han SHEN ; Wanqing ZHOU ; Yingchun XU ; Xiaojiang ZHANG ; Xuesong XU ; Chao YAN ; Chuanqing WANG ; Pan FU ; Wei JIA ; Gang LI ; Yuanhong XU ; Ying HUANG ; Dawen GUO ; Jinying ZHAO ; Wen'en LIU ; Yanming LI ; Hua YU ; Xiangning HUANG ; Bin SHAN ; Yan DU ; Shanmei WANG ; Yafei CHU ; Yuxing NI ; Jingyong SUN ; Yunsong YU ; Jie LIN ; Chao ZHUO ; Danhong SU ; Lianhua WEI ; Fengmei ZOU ; Yan JIN ; Chunhong SHAO ; Jihong LI ; Lixia ZHANG ; Juan MA ; Yunzhuo CHU ; Sufei TIAN ; Jinju DUAN ; Jianbang KANG ; Ruizhong WANG ; Hua FANG ; Fangfang HU ; Yunjian HU ; Xiaoman AI ; Fang DONG ; Zhiyong LÜ ; Hong ZHANG ; Chun WANG ; Yong ZHAO ; Ping GONG ; Lei ZHU ; Jinhua MENG ; Xiaobo MA ; Yanping ZHENG ; Jinsong WU ; Yuemei LU ; Ruyi GUO ; Yan ZHU ; Kaizhen WEN ; Yirong ZHANG ; Chunlei YUE ; Jiangshan LIU ; Wenhui HUANG ; Shunhong XUE ; Xuefei HU ; Hongqin GU ; Jiao FENG ; Shuping ZHOU ; Yan ZHOU ; Yunsheng CHEN ; Qing MENG ; Bixia YU ; Jilu SHEN ; Rui DOU ; Shifu WANG ; Wen HE ; Longfeng LIAO ; Lin JIANG
Chinese Journal of Infection and Chemotherapy 2024;24(3):309-317
Objective To examine the changing antimicrobial resistance profile of Enterobacter spp.isolates in 53 hospitals across China from 2015 t0 2021.Methods The clinical isolates of Enterobacter spp.were collected from 53 hospitals across China during 2015-2021 and tested for antimicrobial susceptibility using Kirby-Bauer method or automated testing systems according to the CHINET unified protocol.The results were interpreted according to the breakpoints issued by the Clinical & Laboratory Standards Institute(CLSI)in 2021(M100 31st edition)and analyzed with WHONET 5.6 software.Results A total of 37 966 Enterobacter strains were isolated from 2015 to 2021.The proportion of Enterobacter isolates among all clinical isolates showed a fluctuating trend over the 7-year period,overall 2.5%in all clinical isolates amd 5.7%in Enterobacterale strains.The most frequently isolated Enterobacter species was Enterobacter cloacae,accounting for 93.7%(35 571/37 966).The strains were mainly isolated from respiratory specimens(44.4±4.6)%,followed by secretions/pus(16.4±2.3)%and urine(16.0±0.9)%.The strains from respiratory samples decreased slightly,while those from sterile body fluids increased over the 7-year period.The Enterobacter strains were mainly isolated from inpatients(92.9%),and only(7.1±0.8)%of the strains were isolated from outpatients and emergency patients.The patients in surgical wards contributed the highest number of isolates(24.4±2.9)%compared to the inpatients in any other departement.Overall,≤ 7.9%of the E.cloacae strains were resistant to amikacin,tigecycline,polymyxin B,imipenem or meropenem,while ≤5.6%of the Enterobacter asburiae strains were resistant to these antimicrobial agents.E.asburiae showed higher resistance rate to polymyxin B than E.cloacae(19.7%vs 3.9%).Overall,≤8.1%of the Enterobacter gergoviae strains were resistant to tigecycline,amikacin,meropenem,or imipenem,while 10.5%of these strains were resistant to polycolistin B.The overall prevalence of carbapenem-resistant Enterobacter was 10.0%over the 7-year period,but showing an upward trend.The resistance profiles of Enterobacter isolates varied with the department from which they were isolated and whether the patient is an adult or a child.The prevalence of carbapenem-resistant E.cloacae was the highest in the E.cloacae isolates from ICU patients.Conclusions The results of the CHINET Antimicrobial Resistance Surveillance Program indicate that the proportion of Enterobacter strains in all clinical isolates fluctuates slightly over the 7-year period from 2015 to 2021.The Enterobacter strains showed increasing resistance to multiple antimicrobial drugs,especially carbapenems over the 7-year period.
10.Carrier screening for 223 monogenic diseases in Chinese population:a multi-center study in 33 104 individuals
Wei HOU ; Xiaolin FU ; Xiaoxiao XIE ; Chunyan ZHANG ; Jiaxin BIAN ; Xiao MAO ; Juan WEN ; Chunyu LUO ; Hua JIN ; Qian ZHU ; Qingwei QI ; Yeqing QIAN ; Jing YUAN ; Yanyan ZHAO ; Ailan YIN ; Shutie LI ; Yulin JIANG ; Manli ZHANG ; Rui XIAO ; Yanping LU
Journal of Southern Medical University 2024;44(6):1015-1023
Objective To investigate the epidemiological characteristics and mutation spectrum of monogenic diseases in Chinese population through a large-scale,multicenter carrier screening.Methods This study was conducted among a total of 33 104 participants(16 610 females)from 12 clinical centers across China.Carrier status for 223 genes was analyzed using high-throughput sequencing and different PCR methods.Results The overall combined carrier frequency was 55.58%for 197 autosomal genes and 1.84%for 26 X-linked genes in these participants.Among the 16 669 families,874 at-risk couples(5.24%)were identified.Specifically,584 couples(3.50%)were at risk for autosomal genes,306(1.84%)for X-linked genes,and 16 for both autosomal and X-linked genes.The most frequently detected autosomal at-risk genes included GJB2(autosomal recessive deafness type 1A,393 couples),HBA1/HBA2(α-thalassemia,36 couples),PAH(phenylketonuria,14 couples),and SMN1(spinal muscular atrophy,14 couples).The most frequently detected X-linked at-risk genes were G6PD(G6PD deficiency,236 couples),DMD(Duchenne muscular dystrophy,23 couples),and FMR1(fragile X syndrome,17 couples).After excluding GJB2 c.109G>A,the detection rate of at-risk couples was 3.91%(651/16 669),which was lowered to 1.72%(287/16 669)after further excluding G6PD.The theoretical incidence rate of severe monogenic birth defects was approximately 4.35‰(72.5/16 669).Screening for a battery of the top 22 most frequent genes in the at-risk couples could detect over 95%of at-risk couples,while screening for the top 54 genes further increased the detection rate to over 99%.Conclusion This study reveals the carrier frequencies of 223 monogenic genetic disorders in the Chinese population and provides evidence for carrier screening strategy development and panel design tailored to the Chinese population.In carrier testing,genetic counseling for specific genes or gene variants can be challenging,and the couples need to be informed of these difficulties before testing and provided with options for not screening these genes or gene variants.

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