1.The Clinical and Genetics Characteristics of Oculopharyngodistal Myopathy
Jiaxi YU ; Zhihao QUAN ; Yilei ZHENG ; Jing AN ; Jing LIU ; Qingqing WANG ; Lingchao MENG ; Meng YU ; Zhiying XIE ; Jianwen DENG ; He LYU ; Wei ZHANG ; Yun YUAN ; Zhaoxia WANG
JOURNAL OF RARE DISEASES 2026;5(2):164-174
To analyze the clinical and genetic features of oculopharyngodistal myopathy (OPDM) patients and compare the phenotypic differences among various causative genes. A total of 65 genetically confirmed OPDM patients from 43 unrelated families, who were admitted to the Department of Neurology, Peking University First Hospital between January 2008 and December 2025, were retrospectively included.The general demographic data, clinical manifestations, laboratory/auxiliary examinations, muscle pathology, and genetic test results were systematically collected and analyzed. The clinical and pathological characteristics among different OPDM subtypes were compared. Among the 65 patients(39 male and 26 female), the mean age of onset was (31.20±10.43) years (range: 14 to 63 years). The initial symptom was predominantly distal limb weakness (67.44%), which gradually progressed to involve the extraocular muscles, pharyngeal muscles, facial muscles and proximal limb muscles. Serum creatine kinase levels were mildly to moderately elevated. Muscle pathological examinations revealed rimmed vacuoles and intranuclear inclusions (within muscle fibers). The mean duration from onset to diagnosis was (12.33±7.88) years (range: 1 to 32 years). All probands had negative results on conventional next-generation whole-exome sequencing; pathogenic variants were identified through third-generation long-read sequencing or OPDM-targeted repeat-primed polymerase chain reaction(RP-PCR). Among the 43 families, OPDM2 subtype was the most common genetic subtype ( OPDM2 was the predominant subtype in this study. All subtypes share similar age of onset and muscular pathological changes, yet exhibit distinct disease progression patterns. Future multicenter prospective cohort studies are warranted to further elucidate the clinical characteristics, pathogenetic mechanisms, and prognostic differences among OPDM subtypes.
2.Cross-sectional survey of healthcare-associated infection in 5 736 medical institutions across China in 2024
Cui ZENG ; Wuqiang GAO ; Fu QIAO ; Hui ZHAO ; Xu FANG ; Linping LI ; Xiuwen CHEN ; Jiansen CHEN ; Dan LI ; Yuan ZHOU ; Lingli YU ; Qinglan MENG ; Xia MOU ; Lijuan XIONG ; Weiguang LI ; Ding LIU ; Jiaqing XIAO ; Limei OU ; Baozhen LI ; Jun YIN ; Haojun ZHANG ; Qiang FU ; Qun LU ; Biao WU ; Ya-wei XING ; Shumei SUN ; Shuncai WANG ; Longmin DU ; Jingping ZHANG ; Wen-ying HE ; Gui CHENG ; Nan REN ; Xun HUANG ; Anhua WU
Chinese Journal of Infection Control 2025;24(11):1572-1583
Objective To understand the current situation of healthcare-associated infection(HAI)in China,pro-vide data support and decision-making basis for formulating scientific and effective strategies for HAI prevention and control.Methods A nationwide cross-sectional survey on HAI was conducted among various types and levels of medical institutions in China according to a unified protocol of bedside surveys and case investigations.Results In 2024,a total of 5 736 medical institutions and 2 751 765 patients were surveyed.Among them,34 889 HAI cases were identified,with a prevalence rate of 1.27%.The number of HAI episodes was 38 032,and case prevalence rate was 1.38%.The prevalence rate of HAI in medical institutions in different regions of China ranged from 0.66%to 2.35%.Among medical institutions of different scales,those with a bed capacity of ≥900 had the high-est incidence of HAI,reaching 1.65%.The most common infection site was the lower respiratory tract(44.66%),followed by the urinary tract(12.94%),surgical site(9.32%),upper respiratory tract(7.02%),and bloodstream infection(5.78%).The top 3 departments with the highest HAI rates were the general intensive care unit(10.02%),department of neurosurgery(5.51%),and department(group)of hematology(5.34%).A total of 23 238 strains of HAI pathogens were detected,with 10 714 strains(46.10%)from lower respiratory tract speci-mens.The top 5 detected strains were Klebsiella pneumoniae(14.76%),Pseudomonas aeruginosa(13.33%),Escherichia coli(12.79%),Acinetobacter baumannii(9.23%),and Staphylococcus aureus(7.88%).231 944 pa-tients underwent class Ⅰ incision surgery were monitored,with 1 647 cases experienced surgical site infection,and the prevalence rate of surgical site infection was 0.71%.The number of patients who should undergo pathogen de-tection(patients receiving therapeutic and therapeutic combined prophylactic antimicrobial agents)was 715 179,while the actual number was 480 492,with a pathogen detection rate of 67.18%.425 225 patients received patho-genic detection before treatment,with a detection rate of 59.46%.Conclusion The overall HAI prevalence in Chi-na is lower,showing disparities among medical institutions of different regions and scales.Therefore,precise imple-mentation of measures is necessary for HAI prevention and control,with a focus on high-risk institutions and high-risk departments,key areas,and critical procedures.All levels of medical institutions should continuously reduce the incidence of HAI by strengthening monitoring,standardizing the use of antimicrobial agents,and reinforcing basic HAI prevention and control measures.
3.Analysis of serotypes and antibiotic resistance of clinically isolated Salmonella in a children's hospital in Suzhou,2021-2023
Meng SHAO ; Miaomiao GUO ; Wenna QIU ; Lei DING ; Yuan ZHANG ; Linying CHU ; Hongying WANG ; Lijun ZHOU
Chinese Journal of Nosocomiology 2025;35(11):1679-1683
OBJECTIVE To investigate the serotypes and antimicrobial resistance rate of clinically isolated Salmonel-la in a children's hospital in Suzhou,and to provide reference for the treatment of salmonellosis.METHOD Totally 177 strains of Salmonella isolated from Children's Hospital of Wujiang District from Jan.2021 to Dec.2023 were collected,and the results of serotypes and drug sensitivity of Salmonella were analyzed.RESULTS The male to fe-male isolation rate of Salmonella was 1.39∶1,with a median age of children infection at 1.3(0.8,2.3)years.The highest number of Salmonella strains were isolated in the month of Jun.,followed by Jul.,Aug.,Sep.,Oct.and May,collectively accounting for 82.49%of all isolates.Acute gastroenteritis was manifested in 142 cases(80.22%),with respiratory tract infections in 38 cases(21.47%)and septicemia in 7 cases(3.95%).The differ-ence in detection rates across the three years was not statistically significant(P=0.806).Salmonella Typhimuri-um was the predominant serotype,representing 54.24%of all isolates.The antimicrobial drug with the highest rate of resistance in Salmonella was ampicillin(71.35%,122/171),followed by sulfamethoxazole/metronidazole(43.60%,75/172),and ampicillin/sulbactam(30.23%,52/172),and no imipenem resistant strains were found.29.07%(50/172)of strains showed multidrug resistance.CONCLUSIONS Boys under three years of age are sus-ceptible to Salmonella infections in summer and fall in this region,with Salmonella Typhimurium being the pre-dominant serotype.Clinical attention should be paid to the characteristics of Salmonella infection and drug resist-ance,as well as the early diagnosis and rational use of antimicrobial drugs.
4.Construction of cuproptosis-related genes prognostic model for oral squamous cell carcinoma based on bioinformatics
Baixin GAO ; Ling LI ; Jingfei ZHANG ; Chao YUAN ; Meng ZHANG ; Zhen CAI
Journal of Practical Stomatology 2025;41(2):253-260
Objective:The transcriptome data was utilized to screen cuproptosis-related genes(CRGs)in oral squamous cell car-cinoma(OSCC),and the characteristic genes were identified for constructing a prognostic model for predicting patients'survival time.Methods:OSCC transcriptome gene expression and clinical data were obtained from TCGA and GEO.Through Lasso regres-sion analysis and Cox regression analysis,relevant prognostic genes were screened and prognostic models were constructed.Ac-cording to the median value of risk scores,patients were divided into high and low risk groups,and their survival rates were com-pared.Finally,the predictive performance of the model was verified.Results:In this study,9 characteristic genes with prognostic value(ENO2,P4HA1,SLC2A3,AQP1,PLS1,NXPH4,CTSG,TRAC,THBS1)were screened out and a 9-gene prognostic model was constructed.The survival rate of high-risk group based on prognostic model was significantly lower than that of low-risk group.The area under curve(AUC)of receiver operating characteristic curve(ROC)was 0.701,0.729 and 0.702 at 1 year,3 years and 5 years,respectively,which verifies that the risk model has good predictive performance.The nomogram predicted that the 1-year,3-year,and 5-year survival probabilities of OSCC patients are 89.6%,72.4%,and 63.9%respectively,and the cal-ibration curve confirmed the accuracy of the nomogram prediction.Conclusion:The 9-gene prognostic model based on CRGs screening could predict the prognosis of OSCC patients,which is helpful for clinical personalized treatment of OSCC patients and prediction of their survival rate.
5.Generation and countermeasures of ambiguous medical records in DRG application
Shujuan FAN ; Xueli YAN ; Meng ZHANG ; Yuan SHAO ; Wen ZHANG ; Huang ZUO
Modern Hospital 2025;25(3):371-374
Objective To analyze the reasons and influencing factors of ambiguous medical records,and propose targe-ted intervention strategies.Methods The medical records discharged from the Department of Otolaryngology,Head and Neck Surgery of a large Class Ⅲ hospital in Xi'an from January 2023 to December 2023 were retrospectively collected,and the medical records groups and ambiguous medical records were screened through the DRG information platform.The clinical features,defect causes and risk factors of ambiguous cases were analyzed statistically.Results There were 4 124 discharged cases in the year,of which 77 were ambiguous cases,accounting for 1.87%.Compared with the non-ambiguous group,more patients in the ambig-uous group adopted a self-funded approach,experienced a transfer and a longer hospital stay.The proportion of surgery and trau-ma in ambiguous group was higher,but the proportion of tumor patients was lower.Due to DRG grouping rules,64 cases(83.1%)were divided into ambiguous groups,which was the primary direct cause.Binary Logistic regression indicated that self-paid medical treatment(OR=2.2),transfer(OR=4.8),hospitalization ≥7 days(OR=3.1),trauma(OR=15.0),and total cost>20 000 yuan(OR=1.7)were the risk factors for ambiguous disease cases(P<0.05),while tumor disease was the pro-tective factor(OR=0.6,P<0.05).Conclusion The emergence of ambiguous medical records involves many aspects such as clinical diagnosis and treatment,hospital management,health policy and so on,which has an important impact on hospital per-formance and medical insurance fund.Only by strengthening the level of hospital management,improving the quality of informa-tion system,and promoting the coordination and communication between doctors,management and patients,can we effectively re-duce the occurrence of ambiguous medical records.
6.Investigation on patient experience and willingness to use internet diagnosis and treatment and analysis of influencing factors
Wensi ZHANG ; Meng YUAN ; Sitong LIN ; Chengcheng LI
Modern Hospital 2025;25(3):422-426
Objective In order to investigate the patients'medical experiences,willingness to use online diagnosis and treatment in the context of"Internet+medical health",and the factors influencing these choice of medical channels.Methods We conducted an online and offline sampling survey through a questionnaire.1 215 questionnaires were distributed,and 1 010 were valid.After looking at the basic details of the survey participants,we used a logistic regression model to find out what affects patients'willingness to see a doctor online.Results Whether patients have solved their own problem,and the degree of help on the Internet play a significant role in the willingness to recommend Internet diagnosis and treatment.In addition,with the de-crease of age,the improvement of education level,the increase of economic development level of the city where the respondents live,and the decrease of medical expenditure in the past year,residents'willingness to use Internet diagnosis and treatment will show a gradually increasing trend.Conclusion Internet diagnosis and treatment in the future still need to further meet the needs of multi-group medical services,improve and perfect service quality and medical insurance management,to achieve"full node"coverage,"full chain"supervision.
7.Changes in the intestinal microbiota structure of patients with colorectal adenoma
Meng SIJIA ; Li JIQIU ; Wang DAN ; Liu CHEN ; Li CHUNYAN ; Zhao JING ; Wang YU ; Du MEIZHI ; Wang YUAN ; Lu WENLI ; Zhu YUN ; Zhang KEMING
Chinese Journal of Clinical Oncology 2025;52(4):177-182
Objective:To investigate gut microbiota differences between individuals with and without colorectal adenoma(CRA)and to identify gut microbes associated with CRA.Methods:This cross-sectional study analyzed the gut microbiota of 100 patients with CRA and 68 individuals without CRA(aged 40-75 years)who underwent colonoscopies between March 2021 and March 2022 at Tianjin Nankai Hospital.Fecal samples were sequenced for the V3-V4 region of the bacterial 16S rRNA gene using the Illumina NovaSeq platform.Results:Compared to the non-CRA group,the CRA group exhibited reduced relative abundances of identified and unidentified Lachnospiraceae,with increased Faecalibacterium and Streptococcus.In the non-CRA group,the relative abundances of Coprococcus,unidentified Clostridiaceae,and Clostridium were higher.LEfSe analysis revealed significant enrichment of Gammaproteobacteria,Proteobacteria,Enterobacteriales,and Faecalibacterium in the CRA group,while the non-CRA group was enriched for Moraxellaceae,Acinetobacter,and Anaerostipes.Conclusions:These findings suggest a discernible disparity in the gut microbiota structure between CRA patients and individuals without adenoma.The enrichment of potential pathogenic taxa,such as Faecalibacterium and Streptococcus,in the CRA group suggests a possible association with adenoma development.
8.Analysis of serotypes and antibiotic resistance of clinically isolated Salmonella in a children's hospital in Suzhou,2021-2023
Meng SHAO ; Miaomiao GUO ; Wenna QIU ; Lei DING ; Yuan ZHANG ; Linying CHU ; Hongying WANG ; Lijun ZHOU
Chinese Journal of Nosocomiology 2025;35(11):1679-1683
OBJECTIVE To investigate the serotypes and antimicrobial resistance rate of clinically isolated Salmonel-la in a children's hospital in Suzhou,and to provide reference for the treatment of salmonellosis.METHOD Totally 177 strains of Salmonella isolated from Children's Hospital of Wujiang District from Jan.2021 to Dec.2023 were collected,and the results of serotypes and drug sensitivity of Salmonella were analyzed.RESULTS The male to fe-male isolation rate of Salmonella was 1.39∶1,with a median age of children infection at 1.3(0.8,2.3)years.The highest number of Salmonella strains were isolated in the month of Jun.,followed by Jul.,Aug.,Sep.,Oct.and May,collectively accounting for 82.49%of all isolates.Acute gastroenteritis was manifested in 142 cases(80.22%),with respiratory tract infections in 38 cases(21.47%)and septicemia in 7 cases(3.95%).The differ-ence in detection rates across the three years was not statistically significant(P=0.806).Salmonella Typhimuri-um was the predominant serotype,representing 54.24%of all isolates.The antimicrobial drug with the highest rate of resistance in Salmonella was ampicillin(71.35%,122/171),followed by sulfamethoxazole/metronidazole(43.60%,75/172),and ampicillin/sulbactam(30.23%,52/172),and no imipenem resistant strains were found.29.07%(50/172)of strains showed multidrug resistance.CONCLUSIONS Boys under three years of age are sus-ceptible to Salmonella infections in summer and fall in this region,with Salmonella Typhimurium being the pre-dominant serotype.Clinical attention should be paid to the characteristics of Salmonella infection and drug resist-ance,as well as the early diagnosis and rational use of antimicrobial drugs.
9.Effect of dodecanoylcarnitine and myristoleic acid on the cellular function of mouse alveolar epithelial cell line of MLE-12
Yuan MA ; Ting ZHANG ; Zhi-long JIANG ; Jia-meng GAO ; Yu-hao QIAN ; Zhi-hong CHEN
Fudan University Journal of Medical Sciences 2025;52(3):333-342
Objective To explore the effects of dodecanoylcarnitine(DA)and myristoleic acid(MA)on the function of mouse alveolar epithelial cell line MLE-12 and their underlying mechanisms.Methods An inflammatory model was established by stimulating MLE-12 cells with IL-4.The expression levels of DA,MA,and sphingosine-1-phosphate(S1P)in the cell supernatant were detected by ELISA.MLE-12 cells were separately intervened with DA and MA.RT-PCR and flow cytometry were used to detect the expression changes of inflammatory factors IL-6 and tumor necrosis factor-α(TNF-α)and the level of intracellular reactive oxygen species(ROS).Additionally,Western blot was performed to detect the expression of key proteins such as p38 mitogen-activated protein kinase(p-38 MAPK)and src homology 2 domain-containing phosphatase 1(SHP-1).To explore the role of S1PR2 in the effects of DA and MA,MLE-12 cells were pretreated with the S1PR2 inhibitor JTE-013,and the above experiments were repeated.Results IL-4 stimulation significantly upregulated the levels of DA,MA,and S1P in MLE-12 cells(P<0.05).DA/MA treatment groups exhibited significantly increased expression of IL-6 and TNF-α compared with the control group(P<0.05),along with elevated ROS levels(P<0.05).Western blot analysis revealed that DA/MA promoted SHP-1 dephosphorylation and phosphorylated p38 MAPK activation in MLE-12 cells.Notably,JTE-013 pre-treatment completely reversed these effects(P<0.05).Conclusion Asthma-related metabolites DA and MA exacerbate the inflammatory and oxidative stress responses of MLE-12 cells by activating the S1PR2 receptor,promoting the dephosphorylation of SHP-1 and the activation of the p-p38 MAPK pathway.This study reveals the core regulatory role of S1PR2 in this pathway as well.
10.Generation and countermeasures of ambiguous medical records in DRG application
Shujuan FAN ; Xueli YAN ; Meng ZHANG ; Yuan SHAO ; Wen ZHANG ; Huang ZUO
Modern Hospital 2025;25(3):371-374
Objective To analyze the reasons and influencing factors of ambiguous medical records,and propose targe-ted intervention strategies.Methods The medical records discharged from the Department of Otolaryngology,Head and Neck Surgery of a large Class Ⅲ hospital in Xi'an from January 2023 to December 2023 were retrospectively collected,and the medical records groups and ambiguous medical records were screened through the DRG information platform.The clinical features,defect causes and risk factors of ambiguous cases were analyzed statistically.Results There were 4 124 discharged cases in the year,of which 77 were ambiguous cases,accounting for 1.87%.Compared with the non-ambiguous group,more patients in the ambig-uous group adopted a self-funded approach,experienced a transfer and a longer hospital stay.The proportion of surgery and trau-ma in ambiguous group was higher,but the proportion of tumor patients was lower.Due to DRG grouping rules,64 cases(83.1%)were divided into ambiguous groups,which was the primary direct cause.Binary Logistic regression indicated that self-paid medical treatment(OR=2.2),transfer(OR=4.8),hospitalization ≥7 days(OR=3.1),trauma(OR=15.0),and total cost>20 000 yuan(OR=1.7)were the risk factors for ambiguous disease cases(P<0.05),while tumor disease was the pro-tective factor(OR=0.6,P<0.05).Conclusion The emergence of ambiguous medical records involves many aspects such as clinical diagnosis and treatment,hospital management,health policy and so on,which has an important impact on hospital per-formance and medical insurance fund.Only by strengthening the level of hospital management,improving the quality of informa-tion system,and promoting the coordination and communication between doctors,management and patients,can we effectively re-duce the occurrence of ambiguous medical records.

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