1.Diagnosis and treatment guideline for acute cervical spinal cord injury without fracture-dislocation in adults (version 2025)
Qingde WANG ; Tongwei CHU ; Jian DONG ; Liangjie DU ; Haoyu FENG ; Shunwu FAN ; Shiqing FENG ; Yanzheng GAO ; Yong HAI ; Da HE ; Dianming JIANG ; Jianyuan JIANG ; Bin LIN ; Bin LIU ; Baoge LIU ; Fang LI ; Feng LI ; Li LI ; Weishi LI ; Fangcai LI ; Xiaoguang LIU ; Hongjian LIU ; Yong LIU ; Zhongjun LIU ; Shibao LU ; Xuhua LU ; Keya MAO ; Xuexiao MA ; Yong QIU ; Limin RONG ; Jun SHU ; Yueming SONG ; Tiansheng SUN ; Yan WANG ; Zhe WANG ; Zheng WANG ; Bing WANG ; Linfeng WANG ; Yu WANG ; Qinghe WANG ; Jigong WU ; Hong XIA ; Guoyong YIN ; Jinglong YAN ; Wen YUAN ; Yong YANG ; Qiang YANG ; Cao YANG ; Jie ZHAO ; Jianguo ZHANG ; Yue ZHU ; Zezhang ZHU ; Yingjie ZHOU ; Zhongmin ZHANG ; Yan ZENG ; Dingjun HAO ; Baorong HE ; Wei MEI
Chinese Journal of Trauma 2025;41(3):243-252
Cervical spinal cord injury without fracture-dislocation (CSCIWFD) is referred to as a special type of cervical spinal cord injury characterized by traumatic spinal cord dysfunction and no significant bony structural abnormalities on imagines. Duo to the high risk of missed diagnosis during the initial consultation, CSCIWFD may lead to progressive neurological deterioration or even complete paralysis, severely impacting patients′ prognosis. Currently, there are no established consensuses over the diagnosis and treatment of CSCIWFD, such as the lack of evidence-based standards for indications of non-surgical treatment and risk of secondary neurological injury, as well as debates over the optimal timing for surgical intervention and indications for different surgical approaches. To address these issues, the Spine Trauma Group of the Orthopedic Branch of the Chinese Medical Doctor Association organized experts in the relevant fields to formulate Diagnosis and treatment guideline for acute cervical spinal cord injury without fracture- dislocation in adults ( version 2025) . Based on evidence-based medicine and the principles of scientific rigor and clinical applicability, the guidelines proposed 11 recommendations covering terminology, diagnosis, evaluation treatment, and rehabilitation, etc., aiming to standardize the management of CSCIWFD.
2.Characterization of vaginal flora in pregnant women during the second trimester using 16S rRNA full-length gene sequencing
Yanmin CAO ; Haiyan LIU ; Yao DONG ; Zongguang LI ; Baixue HAN ; Mengting CAO ; Longnan PAN ; Hui KAN ; Yaxin LI ; Qing LI ; Anqun HU ; Yingjie ZHENG
Chinese Journal of Microbiology and Immunology 2025;45(10):869-880
Objective:To characterize the vaginal flora of pregnant women during the second trimester using full-length 16S rRNA sequencing.Methods:A total of 142 pregnant women were systematically sampled from a pregnancy cohort. Vaginal swabs were collected for full-length 16S rRNA gene sequencing,and bioinformatics analysis was performed to characterize the vaginal microbiota and identify associated influencing factors.Results:Among the 142 pregnant women,the most frequently detected species were Lactobacillus iners(83.10%,118/142)and Lactobacillus crispatus(49.30%,70/142). The majority of samples(90.85%,129/142)were classified as Lactobacillus-dominant vagitypes,with the Lactobacillus iners vagitype accounting for 48.59%(69/142)and the Lactobacillus crispatus vagitype accounting for 38.73%(55/142). The vaginal microbiota was clustered into five community state types(CSTs):Ⅰa,Ⅰb,Ⅲa,Ⅲb,and Ⅳ. The most prevalent CSTs were Lactobacillus iners-dominated CST-Ⅲ(51.41%,73/142)and Lactobacillus crispatus-dominated CST-Ⅰ(24.65%,35/142). No samples were classified as CST-Ⅱ or CST-Ⅴ. A significant negative correlation was observed between Lactobacill and vaginosis-associated bacteria. Age,alcohol consumption,smoking,and vaginal treatments showed significant associations or trends toward significance with various Alpha diversity indices. Vaginal douching was associated with CST clustering,while obstetric history(primiparity,previous miscarriage history)was associated with vagitype classification. However,no significant associations were identified between maternal baseline characteristics and Beta diversity indices. Conclusions:Full-length 16S rRNA gene sequencing reveals that the vaginal microbiota of pregnant women is dominated by Lactobacillus iners and Lactobacillus crispatus. Maternal age,lifestyle factors such as smoking and alcohol consumption,and obstetric history are significantly associated with variations in vaginal microbiota composition.
3.Association between adiponectin copy number variation region and gestational diabetes mellitus
Ziheng LI ; Haiyan LIU ; Yao DONG ; Kailin WANG ; Jin LIU ; Huilu CUI ; Qing LI ; Anqun HU ; Zongguang LI ; Bin WANG ; Yingjie ZHENG
Chinese Journal of Epidemiology 2025;46(5):867-873
Objective:To investigate the association between adiponectin-related copy number variation (CNV) region (CNVR) and gestational diabetes mellitus (GDM).Methods:Pregnant women who had prenatal screening in Anqing Municipal Hospital, Anhui Province, from February 2018 to December 2020 were surveyed for baseline information collection, and blood samples were collected. The outcome information was obtained by post pregnancy follow-up. Latex-enhanced immunoturbidimetry and ASA-CHIA chip were used to detect serum adiponectin levels and CNV of pregnant women, respectively. After genotyping, CNV data were processed with software PennCNV 1.0.5 following standard quality control procedure. CNVR were identified and integrated by using software R 4.3.3. Then the associations between CNVR and adiponectin was evaluated, and gene annotation and over-representation analysis were conducted. The log-binomial regression model was used to adjust relevant covariates and analyze the association between adiponectin-related CNVR and GDM.Results:The detection rate of GDM was 9.54% (176/1 845) in the pregnant women. The genotyping information of 1 840 people (99.73%) passed quality evaluation. A total of 33 878 CNVs were identified, and 1 449 CNVRs were obtained after integration. After the false discovery rate method correction, CNVR_132 (CHR2: 47611743-47635062), CNVR_254 (CHR3: 10182703-10183872), CNVR_691 (CHR7: 150637053-150834539) and CNVR_1101 (CHR14: 104248431-104830620) were correlated with adiponectin levels (all P<0.05). Over- representation analysis showed that the molecular function of ribonucleotide binding [Gene Ontology (GO): 0032553] was significantly enriched based on the GO database. The log-binomial regression model, adjusting age, pre-pregnancy BMI, history of miscarriage, smoking history, and family history of diabetes, indicated that CNVR_132 (CHR2: 47611743-47635062) and CNVR_1101 (CHR14: 104248431-104830620) were not statistically associated with the risk for GDM (both P>0.05). However, CNVR_254 (CHR3: 10182703-10183872, a RR=1.83, 95% CI: 1.15-2.91) and CNVR_691 (CHR7: 150637053-150834539, a RR=1.73, 95% CI: 1.23-2.43) might be associated with an increased risk for GDM (all P<0.05). Conclusion:Adiponectin-related CNVR_254 (CHR3: 10182703-10183872) and CNVR_691 (CHR7: 150637053-150834539) might be risk factors for the incidence of GDM.
4.One case of 18q-deletion syndrome with intellectual disability, epileptic seizures and white matter lesions and literature review
Yuhang DONG ; Yingjie DAI ; Huisheng CHEN
Chinese Journal of Neurology 2025;58(10):1064-1072
Objective:To report the clinical data of a patient with 18q-deletion syndrome primarily presenting with intellectual disability, seizures, and white matter lesions, and to summarize the phenotypic and genetic characteristics of this syndrome.Methods:The clinical data, auxiliary examinations, and genetic test results of a patient diagnosed with 18q-deletion syndrome in the Department of Neurology, General Hospital of Northern Theater Command in October 2023 were retrospectively collected. Additionally, literatures related to "18q-syndrome" "18q-deletion syndrome" were searched in the CNKI, Wanfang Database, and PubMed databases. Combining a review of relevant literature, the clinical phenotypes and genetic features of 18q-deletion syndrome were summarized.Results:The patient was a 17-year-old male presenting with seizures, severe intellectual disability (Mini-Mental State Examination score of 11), and white matter lesions on brain magnetic resonance imaging. Whole-exome sequencing and chromosomal microarray analysis confirmed an approximately 11.3 Mb copy number deletion in the 18q22.1-q23 region, involving dosage-sensitive genes such as TSHZ1, MBP, NETO1, and ZNF407, leading to a diagnosis of 18q- deletion syndrome. A literature review identified 18 previously reported cases of 18q-deletion syndrome, totaling 19 cases including this patient. The main clinical manifestations included facial dysmorphism (10/19), intellectual disability (9/19), mental and/or motor developmental delay (9/19), congenital heart disease (8/19), seizures (6/19) and white matter lesions (5/19). Pathogenic genes involved included TCF4, SMAD4, TSHZ1, ZNF407, ZNF516, and MBP. Conclusions:18q-deletion syndrome is caused by partial deletion of the long arm of chromosome 18, with neurological manifestations such as seizures, intellectual disability, and white matter lesions, exhibiting high phenotypic variability. Genetic testing aids in definitive diagnosis.
5.Short-term outcome study on cervical deep lymph node-venous anastomosis technique in the treatment of Alzheimer’s disease
Cheng GAN ; Zhengdong KONG ; Xiaoye RAN ; Shudong QIAO ; Yixin ZHANG ; Lu YUE ; Yingjie WANG ; Hui BI ; Dong YANG ; Hongtong MA ; Yuan CHEN ; Hongli CHAI ; Ying JIA ; Chenhao MA ; Zixiang CHEN ; Ke LI ; Miao WANG ; Liguo XUE ; Siwen ZHAO ; Ke WEN ; Lin YIN ; Bo DING ; Shan ZHU ; Yuanbo LIU ; Mengqing ZANG
Chinese Journal of Plastic Surgery 2025;41(2):130-143
Objective:To explore the short-term clinical effects of deep cervical lymph node-venous anastomosis in the treatment of Alzheimer’s disease (AD).Methods:A prospective exploratory study was conducted on the treatment of AD patients using the cervical deep lymph node-venous anastomosis technique in Scar and Wound Treatment Department, Plastic Surgery Hospital, Chinese Academy of Medical Sciences, from September to October 2024. The patients underwent high-frequency ultrasound to locate deep cervical lymph nodes and the external jugular vein. Under general anesthesia, bilateral deep cervical lymph node-venous anastomoses were performed. Indocyanine green (ICG) lymphography was conducted via subcutaneous injection behind the ear to visualize lymph nodes in levels Ⅱ and Ⅲ. After making a skin incision along the posterior margin of the sternocleidomastoid muscle, the external jugular vein, internal jugular veins, and associated lymph nodes were exposed. Adjacent veins were selected for anastomosis of lymph node. Using microsurgical techniques, end-to-side or end-to-end anastomosis was completed for lymph nodes in levels Ⅱ and Ⅲ. Preoperative assessments included the mini-mental state examination (MMSE, a higher score indicates better cognitive function), Alzheimer’s disease assessment scale-cognitive subscale (ADAS-Cog, a higher score indicates greater impairment of cognitive function), Alzheimer’s disease cooperative study scale for activities of daily living (ADCS-ADL, a higher score indicates better ability to perform daily activity), and neuropsychiatric inventory (NPI, a higher score indicates more severe behavioral and emotional symptom). Postoperative follow-up included the same scales to observe changes in cognitive function, activities of daily living, and emotional communication.Results:Four patients (1 male, 3 females, aged 58-79 years) with AD were included. All were diagnosed based on cerebrospinal fluid biomarkers. All patients successfully underwent bilateral deep cervical lymph node-venous anastomoses. On average, 4.3 (2-7 per person) anastomoses were performed per patient. Surgical procedures lasted an average of 6.5 h (5.5-8.5 h) with minimal blood loss (less than 50 ml). Patients resumed normal activity within 6 hours postoperatively and were discharged after an average of 4.1 d (3.5-5.0 d). Postoperative complications included one case each of aspiration pneumonia, lower limb venous thrombosis, and transient delirium, all of whom resolved without long-term effects. Clinical symptoms, including memory decline, mood swings, and anxiety, showed varying degrees of improvement. Patients reported enhanced quality of life, emotional stability, and social engagement, confirming the procedure’s safety and potential cognitive benefits. At one month postoperatively, the MMSE scores of the four patients increased by an average of 0.8 points compared to preoperative levels. Additionally, the two patients who completed the ADAS-Cog assessments showed a decrease in their scores (reduced by 1.0 points and 11.3 points, respectively, compared to preoperative scores), indicating a certain degree of improvement in cognitive function during this period. The ADCS-ADL and NPI scores of four patients varied significantly, without showing any clear pattern.Conclusion:Lymphovenous anastomosis of the deep cervical lymph node-venous anastomosis may provide a new surgical intervention approach for AD, but further large-scale studies and long-term follow-up are needed to validate its safety and effectiveness.
6.Advances in pathology technology development in China over the past ten years: retrospect and prospect
Yingjie LIANG ; Xin SONG ; Peizhen HU ; Weiming ZHANG ; Zaizeng WU ; Yu DONG ; Sanpeng XU ; Gang CHEN
Chinese Journal of Pathology 2025;54(12):1247-1252
Over the past decade, pathology technology in China has undergone rapid development. Through continuous efforts to strengthen normative foundations and quality control, the three-tiered quality control network (national, provincial, and municipal) has been consolidated. These efforts have effectively driven the homogenization of pathology technical quality nationwide. Concurrently, the standardization of laboratory quality management systems and the advancement of automated pathological equipment have laid a solid foundation for the evolution of pathological diagnosis. Breakthroughs in cutting-edge technologies, including digital pathology, artificial intelligence, and molecular pathology, are further catalyzing a paradigm shift from traditional morphological analysis toward next-generation diagnostic pathology. Marking the 70th anniversary of this journal, the field's evolution over the past decade and chart its future course were reviwed systematically, aiming to provide an insightful roadmap for the ongoing progress of the discipline.
7.Exploring the causal relationship between extensive perivascular space burden and ischemic stroke and its subtypes and transient ischemic attack based on Mendelian randomization
Xuehong CHU ; Yingjie SHEN ; Yaolou WANG ; Xiao DONG ; Yuanyuan LIU ; Yan FENG ; Miaowen JIANG ; Ming LI ; Xunming JI ; Chuanjie WU
Journal of Capital Medical University 2025;46(1):22-33
Objective To investigate the association between extensive perivascular space(EPVS)burden in different locations and ischemic stroke(IS),its subtypes,and transient ischemic attack(TIA)through Mendelian randomization(MR)analysis.Methods The summary data from large-scale Genome-wide Association Studies(GWAS)and various MR methods were employed.We applied multivariable MR to mitigate potential confounding factors and conduct sensitivity analyses to enhance result robustness.Subsequently,meta-analysis was utilized to integrate causal relationships between EPVS burden in different locations and IS from various sources.Additionally,reverse MR was employed to observe the impact of various IS types on EPVS burden.Finally,linkage disequilibrium score regression was conducted to assess genetic correlations between exposures and outcomes.Results EPVS burden in both the white matter(OR=1.12,95%CI:1.01-1.25;P=0.04)and basal ganglia(OR=1.57,95%CI:1.30-1.89;P<0.01)are significant risk factors for IS.EPVS burden in the basal ganglia is also a risk for IS(small-vessel)(OR=4.56,95%CI:2.57-8.27;P=5.95× 10-7).After IS and TIA there seems to be a potential increase in extensive basal ganglia perivascular space burden.Conclusions Extensive white matter perivascular space burden and extensive basal ganglia perivascular space burden may serve as important indicators to predict IS.
8.Resistance and molecular characteristics of Group A Streptococcus from children in outpatient setting of a maternal and child health hospital in the suburb of Beijing
Zhenzhen DONG ; Jinyu YU ; Yichun WANG ; Yumei MAO ; Yingjie WANG ; Xingjun TIAN ; Lili JI
Chinese Journal of Infection Control 2025;24(10):1395-1401
Objective To understand the pathogenic molecular characteristics of the latest prevalent Group A Streptococcus(GAS)in a suburban area of Beijing.Methods Throat swab specimens from children suspected of GAS infection in the outpatient setting of a sentinel surveillance hospital in a suburban area of Beijing from January 2023 to June 2025 were collected.GAS strains were detected and cultured.Antimicrobial susceptibility testing on 12 antimicrobial agents were performed,and molecular epidemiological characteristics of GAS strains was further ana-lyzed by whole genome sequencing technique.Results Data of 326 children suspected of GAS infection in outpatient setting were collected.A total of 41 GAS strains were detected and cultured,with a detection rate of 12.58%.The proportions of children with anterior cervical lymph node enlargement,tonsil congestion,and jaw congestion in the GAS positive group were all higher than those in the GAS negative group,and differences were all statistically sig-nificant(all P<0.05).All 41 GAS strains carried both erm(B)and tet(M)resistance genes and exhibited a struc-tural type(cMLS)resistance phenotype.All of the emm12 strains were ST36,and emm1 strains were ST28.A to-tal of 6 emm12 subtypes and 1 emm1 subtype were detected,namely emm12.2,emm12.95,emm12.69,emm12.17,emm12.19,emm12.149,and emm1.12.Among them,emm12.149 was a newly discovered subtype.Nucleobase at the 175 100 locus in gene sequence had undergone an A→ T mutation.A total of 5 bacteriophages and 6 superanti-gens were detected.There were statistically significant differences in multi-nucleotide polymorphisms(MNPs)and insertion numbers in the genomes of emm12.0 and emm12 subtypes(both P<0.05).The phylogenetic tree presen-ted a highly clonal group of 23 GAS strains in this area,accounting for 57.50%.Conclusion The prevalent GAS strain in this area is emm12.emm12.149 is a new subtype.The resistance genes and phenotypes are erm(B),tet(M),and structural type(cMLS).The genome has plenty genetic polymorphism,and the genome sequences of multiple GAS strains are highly cloned,indicating the possibility of clone transmission.This suggests that the sur-veillance of GAS in sentinel hospitals should continue to be strengthened,so as to provide theoretical basis for the prevention and control of GAS epidemics.
9.Association between adiponectin copy number variation region and gestational diabetes mellitus
Ziheng LI ; Haiyan LIU ; Yao DONG ; Kailin WANG ; Jin LIU ; Huilu CUI ; Qing LI ; Anqun HU ; Zongguang LI ; Bin WANG ; Yingjie ZHENG
Chinese Journal of Epidemiology 2025;46(5):867-873
Objective:To investigate the association between adiponectin-related copy number variation (CNV) region (CNVR) and gestational diabetes mellitus (GDM).Methods:Pregnant women who had prenatal screening in Anqing Municipal Hospital, Anhui Province, from February 2018 to December 2020 were surveyed for baseline information collection, and blood samples were collected. The outcome information was obtained by post pregnancy follow-up. Latex-enhanced immunoturbidimetry and ASA-CHIA chip were used to detect serum adiponectin levels and CNV of pregnant women, respectively. After genotyping, CNV data were processed with software PennCNV 1.0.5 following standard quality control procedure. CNVR were identified and integrated by using software R 4.3.3. Then the associations between CNVR and adiponectin was evaluated, and gene annotation and over-representation analysis were conducted. The log-binomial regression model was used to adjust relevant covariates and analyze the association between adiponectin-related CNVR and GDM.Results:The detection rate of GDM was 9.54% (176/1 845) in the pregnant women. The genotyping information of 1 840 people (99.73%) passed quality evaluation. A total of 33 878 CNVs were identified, and 1 449 CNVRs were obtained after integration. After the false discovery rate method correction, CNVR_132 (CHR2: 47611743-47635062), CNVR_254 (CHR3: 10182703-10183872), CNVR_691 (CHR7: 150637053-150834539) and CNVR_1101 (CHR14: 104248431-104830620) were correlated with adiponectin levels (all P<0.05). Over- representation analysis showed that the molecular function of ribonucleotide binding [Gene Ontology (GO): 0032553] was significantly enriched based on the GO database. The log-binomial regression model, adjusting age, pre-pregnancy BMI, history of miscarriage, smoking history, and family history of diabetes, indicated that CNVR_132 (CHR2: 47611743-47635062) and CNVR_1101 (CHR14: 104248431-104830620) were not statistically associated with the risk for GDM (both P>0.05). However, CNVR_254 (CHR3: 10182703-10183872, a RR=1.83, 95% CI: 1.15-2.91) and CNVR_691 (CHR7: 150637053-150834539, a RR=1.73, 95% CI: 1.23-2.43) might be associated with an increased risk for GDM (all P<0.05). Conclusion:Adiponectin-related CNVR_254 (CHR3: 10182703-10183872) and CNVR_691 (CHR7: 150637053-150834539) might be risk factors for the incidence of GDM.
10.Resistance and molecular characteristics of Group A Streptococcus from children in outpatient setting of a maternal and child health hospital in the suburb of Beijing
Zhenzhen DONG ; Jinyu YU ; Yichun WANG ; Yumei MAO ; Yingjie WANG ; Xingjun TIAN ; Lili JI
Chinese Journal of Infection Control 2025;24(10):1395-1401
Objective To understand the pathogenic molecular characteristics of the latest prevalent Group A Streptococcus(GAS)in a suburban area of Beijing.Methods Throat swab specimens from children suspected of GAS infection in the outpatient setting of a sentinel surveillance hospital in a suburban area of Beijing from January 2023 to June 2025 were collected.GAS strains were detected and cultured.Antimicrobial susceptibility testing on 12 antimicrobial agents were performed,and molecular epidemiological characteristics of GAS strains was further ana-lyzed by whole genome sequencing technique.Results Data of 326 children suspected of GAS infection in outpatient setting were collected.A total of 41 GAS strains were detected and cultured,with a detection rate of 12.58%.The proportions of children with anterior cervical lymph node enlargement,tonsil congestion,and jaw congestion in the GAS positive group were all higher than those in the GAS negative group,and differences were all statistically sig-nificant(all P<0.05).All 41 GAS strains carried both erm(B)and tet(M)resistance genes and exhibited a struc-tural type(cMLS)resistance phenotype.All of the emm12 strains were ST36,and emm1 strains were ST28.A to-tal of 6 emm12 subtypes and 1 emm1 subtype were detected,namely emm12.2,emm12.95,emm12.69,emm12.17,emm12.19,emm12.149,and emm1.12.Among them,emm12.149 was a newly discovered subtype.Nucleobase at the 175 100 locus in gene sequence had undergone an A→ T mutation.A total of 5 bacteriophages and 6 superanti-gens were detected.There were statistically significant differences in multi-nucleotide polymorphisms(MNPs)and insertion numbers in the genomes of emm12.0 and emm12 subtypes(both P<0.05).The phylogenetic tree presen-ted a highly clonal group of 23 GAS strains in this area,accounting for 57.50%.Conclusion The prevalent GAS strain in this area is emm12.emm12.149 is a new subtype.The resistance genes and phenotypes are erm(B),tet(M),and structural type(cMLS).The genome has plenty genetic polymorphism,and the genome sequences of multiple GAS strains are highly cloned,indicating the possibility of clone transmission.This suggests that the sur-veillance of GAS in sentinel hospitals should continue to be strengthened,so as to provide theoretical basis for the prevention and control of GAS epidemics.

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