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Current medical Science 2024年第2期44卷 426-434页

作者： Bi-xin XI Si-ying LIU Yu-ting XU De-dong ZHANG Qun HU Ai-guo LIU department of pediatrics Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China

Objective:Glucose-6-phosphate isomerase(GPI)deficiency is a rare hereditary nonspherocytic hemolytic anemia caused by GPI gene *** disorder exhibits wide heterogeneity in its clinical manifestations and molecular characteristics,often posing challenges for precise diagnoses using conventional *** this end,this study aimed to identify the novel variants responsible for GPI deficiency in a Chinese ***:The clinical manifestations of the patient were summarized and analyzed for GPI deficiency phenotype *** compound heterozygous variants of the GPI gene,c.174C>A(***58Lys)and c.1538G>T(***513Leu),were identified using whole-exome and Sanger *** AlphaFold program and Chimera software were used to analyze the effects of compound heterozygous variants on GPI ***:By characterizing 53 GPI missense/nonsense variants from previous literature and two novel missense variants identified in this study,we found that most variants were located in exons 3,4,12,and 18,with a few localized in exons 8,9,and *** study identified novel compound heterozygous variants associated with GPI *** pathogenic variants disrupt hydrogen bonds formed by highly conserved GPI amino ***:Early family-based sequencing analyses,especially for patients with congenital anemia,can help increase diagnostic accuracy for GPI deficiency,improve child healthcare,and enable genetic counseling.

关键词： glucose-6-phosphate isomerase deficiency whole-exome sequencing compound heterozygous variants genetic characterization hydrogen bond

Clinical Analysis and Mental Health Survey of Hemophilia Carriers:a Cross-sectional Study

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Current medical Science 2024年第2期44卷 435-440页

作者： Wen WANG Li-juan JIANG Dong-yan CUI Ai ZHANG Xiong WANG Ai-guo LIU Qun HU department of pediatrics Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China department of Laboratory Medicine Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China

Objective:Hemophilia carriers(HCs),who are heterozygous for mutations in the clotting factor VIII/clotting factor IX gene(F8 or F9),may have a wide range of clotting factor levels,from very low,similar to afflicted males,to the upper limit of normal,and may experience mental health *** purpose of this study was to provide genetic information on mothers of hemophilia patients and to understand the clotting factor activity and phenotype of ***,we aimed to investigate the mental health status of HCs in ***:A total of 127 hemophilia mothers,including 93 hemophilia A(HA)mothers and 34 hemophilia B(HB)mothers,were enrolled in this *** distance PCR,multiplex PCR,and Sanger sequencing were used to analyze mutations in F8 or *** factor activity was detected by a one-stage clotting *** Symptom Checklist 90(SCL-90,China/Mandarin version)was given to HCs at the same time to assess their mental ***:A total of 90.6%of hemophilia mothers were diagnosed genetically as carriers,with inversion in intron 22 and missense mutations being the most common mutation types in HA and HB carriers,*** median clotting factor level in carriers was 0.74 IU/mL(ranging from 0.09 to 1.74 IU/mL)compared with 1.49 IU/mL(ranging from 0.93 to 1.89 IU/mL)in noncarriers,of which 14.3%of HCs had clotting factor levels of 0.40 IU/mL or below.A total of 53.8%(7/13)of HA carriers with low clotting factor levels(less than 0.50 IU/mL)had a history of bleeding,while none of the HB carriers displayed a bleeding *** total mean score and the global severity index of the SCL-90 for surveyed HCs were 171.00(±60.37)and 1.78(±0.59),respectively.A total of 67.7%of the respondents had psychological symptoms,with obsessive-compulsive disorder being the most prevalent and *** pooled estimates of all nine factors were significantly higher than those in the general population(P<0.05).Conclusions:The detection rate of gene mutations

关键词： hemophilia A hemophilia B mutation carrier mental health

Impact of next-generation sequencing on antimicrobial treatment in immunocompromised adults with suspected infections

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World Journal of Emergency Medicine 2024年第2期15卷 105-110页

作者： Jia Li Jiazhen Luo Tao Hu Ling Cheng Weiwei Shang Li Yan department of Intensive Care Unit Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China department of Emergency Medicine Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China tongji medical college Huazhong University of Science and TechnologyWuhan 430030China department of Geriatrics Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China

BACKGROUND:Prompt pathogen identification can have a substantial impact on the optimization of antimicrobial *** objective of the study was to assess the diagnostic value of next-generation sequencing(NGS)for identifying pathogen and its clinical impact on antimicrobial intervention in immunocompromised patients with suspected ***:This was a retrospective *** January and August 2020,47 adult immunocompromised patients underwent NGS testing under the following clinical conditions:1)prolonged fever and negative conventional cultures;2)new-onset fever despite empiric antimicrobial treatment;and 3)afebrile with suspected infections on *** data,including conventional microbial test results and antimicrobial treatment before and after NGS,were *** were analyzed according to documented changes in antimicrobial treatment(escalated,no change,or deescalated)after the NGS ***:The median time from hospitalization to NGS sampling was 19 *** relevant pathogens were detected via NGS in 61.7% of patients(29/47),more than half of whom suffered from fungemia(n=17),resulting in an antimicrobial escalation in 53.2% of patients(25/47)and antimicrobial de-escalation in 0.2% of patients(1/47).Antimicrobial changes were mostly due to the identification of fastidious organisms such as Legionella,Pneumocystis jirovecii,and *** the remaining three cases,NGS detected clinically relevant pathogens also detected by conventional cultures a few days *** antimicrobial treatment was subsequently adjusted according to the susceptibility test ***,NGS changed antimicrobial management in 55.3%(26/47)of patients,and conventional culture detected clinically relevant pathogens in 14.9% of the patients(7/47).CONCLUSION:With its rapid identification and high sensitivity,NGS could be a promising tool for identifying relevant pathogens and enabling rapid appropriate treatment in immunocompromised patients w

关键词： Immunocompromised patients Next-generation sequencing Antimicrobial management

Survival Analysis of Patients Undergoing Intraoperative Contrast-enhanced Ultrasound in the Surgical Treatment of Malignant Glioma

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Current medical Science 2024年第2期44卷 399-405页

作者： Xu CHEN Ya-ni PENG Fang-ling CHENG Dan CAO An-yu TAO Jian CHEN department of Neurosurgery Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China department of Urology Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China department of medical Ultrasound Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China

Objective:Complete resection of malignant gliomas is often *** previous study indicated that intraoperative contrast-enhanced ultrasound(ICEUS)could aid in the detection of residual tumor remnants and the total removal of brain *** study aimed to investigate the survival rates of patients undergoing resection with or without the use of ICEUS and to assess the impact of ICEUS on the prognosis of patients with malignant ***:A total of 64 patients diagnosed with malignant glioma(WHO grade HI and IV)who underwent surgery between 2012 and 2018 were *** them,29 patients received *** effects of ICEUS on overall survival(OS)and progression-free survival(PFS)of patients were evaluated.A quantitative analysis was performed to compare ICEUS parameters between gliomas and the surrounding ***:The ICEUS group showed better survival rates both in OS and PFS than the control *** univariate analysis revealed that age,pathology and ICEUS were significant prognostic factors for PFS,with only age being a significant prognostic factor for *** multivariate analysis,age and ICEUS were significant prognostic factors for both OS and *** quantitative analysis showed that the intensity and transit time of microbubbles reaching the tumors were significantly different from those of microbubbles reaching the surrounding ***:ICEUS facilitates the identification of residual *** and ICEUS are prognostic factors for malignant glioma surgery,and use of ICEUS offers a better prognosis for patients with malignant glioma.

关键词： intraoperative contrast-enhanced ultrasound malignant glioma extent of resection survival prognosis

Comparison of cytokine levels in prostatic secretion between the Ⅲa and Ⅲb subtypes of prostatitis

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Asian Journal of Andrology 2024年第1期26卷 77-84页

作者： Cheng-Lin Han Yu-Xuan Deng Peng Hu Bin-Tao Hu Tao Wang Ji-Hong Liu Ming-Chao Li department of Urology Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430000China

Chronic prostatitis/chronic pelvic pain syndrome(CP/CPPS),also known as National Institutes of Health(NIH)type Ⅲ prostatitis,is a common disorder with an unclear etiology and no known curative *** on the presence or absence of leukocytes in expressed prostatic secretion(EPS),CP/CPPS is classifiedfurther into Illa(inflammatory)and Illb(noninflammatory)***,the severity of symptoms is not entirely consistent with the white blood cell(WBC)*** the preliminary finding of a link between inflammatory cytokines and CP/CPPS,we performed this clinical study with the aim of identifying cytokines that are differentially expressed according to whether the prostatitis subtype is Ⅲa or Ⅲ*** found that granulocyte colony-stimulating factor(G-CSF),interleukin-18(IL-18),and monocyte chemoattractant protein-1(MCP-1)levels were significantly elevated and interferon-inducible protein-10(IP-10)and platelet-derived growth factor-BB(PDGF-BB)levels were downregulated in the EPS of patients with type Ⅲa *** a word,it is a meaningful study in which we investigate the levels of various cytokines in EPS according to whether prostatitis is the Ⅲa or Ⅲb *** combination of G-CSF,IL-18,MCP-1,IP-10,and PDGF-BB expression levels could form a basis for classification,diagnosis,and therapeutic targets in clinical P/CPPS.

关键词： chronic prostatitis/chronic pelvic pain syndrome(CP/CPPS) cytokines NIH-Ⅲa NIH-ⅢB

Engineered microorganisms:A new direction in kidney stone prevention and treatment

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Synthetic and Systems Biotechnology 2024年第2期9卷 294-303页

作者： Wenlong Wan Weisong Wu Yirixiatijiang Amier Xianmiao Li Junyi Yang Yisheng Huang Yang Xun Xiao Yu department of Urology Tongji Hospital of Tongji Medical College of Huazhong University of Science and TechnologyWuhanHubei ProvinceChina

Numerous studies have shown that intestinal and urinary tract flora are closely related to the formation of kidney *** removal of probiotics represented by lactic acid bacteria and the colonization of pathogenic bacteria can directly or indirectly promote the occurrence of kidney ***,currently existing natural probiotics have *** biology is an emerging discipline in which cells or living organisms are genetically designed and modified to have biological functions that meet human needs,or even create new biological systems,and has now become a research hotspot in various *** synthetic biology approaches of microbial engineering and biological redesign to enable probiotic bacteria to acquire new phenotypes or heterologous protein expression capabilities is an important part of synthetic biology *** biology modification of microorganisms in the gut and urinary tract can effectively inhibit the development of kidney stones by a range of means,including direct degradation of metabolites that promote stone production or indirect regulation of flora *** article reviews the research status of engineered microorganisms in the prevention and treatment of kidney stones,to provide a new and effective idea for the prevention and treatment of kidney stones.

关键词： Renal calculi Engineered microorganisms Synthetic biology Colony homeostasis Oxalate metabolism

Traditional Chinese Medicine Erhuang Suppository for Treatment of Persistent High-risk Human Papillomavirus Infection and Its Impact on Transcriptome of Uterine Cervix

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Current medical Science 2024年第4期44卷 841-853页

作者： Zi-zhuo WANG Hui-li WANG Wei XIONG Juan DU Rong LIU department of Obstetrics and Gynecology Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan430030China department of Pharmacology Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan430030China

Objective High-risk human papillomavirus(HR-HPV)infection is the chief cause of cervical intraepithelial neoplasia(CIN)and cervical *** Erhuang suppository(EHS)is a traditional Chinese medicine(TCM)prepared from realgar(As2S2),Coptidis rhizoma,alumen,and borneolum syntheticum and has been used for antiviral and antitumor ***,whether EHS can efficiently alleviate HR-HPV infection remains *** study was conducted to evaluate the efficacy of EHS for the treatment of persistent HR-HPV infection in the uterine *** In this study,we evaluated the therapeutic efficacy of EHS in a randomized controlled clinical trial with a 3-month ***,70 patients with persistent HR-HPV infection were randomly assigned to receive intravaginal administration of EHS or *** DNA,ThinPrep cytologic test(TCT),colposcopy,and safety evaluation were carried out after *** analysis was performed to compare transcriptome profiles before and after EHS treatment.A K14-HPV16 mouse model was generated to confirm the efficiency of *** After 3 months,74.3%(26/35)of the patients in the treatment group were HPV negative,compared to 6.9%(2/29)in the placebo ***-throughput microarrays revealed distinct transcriptome profiles after *** differentially expressed genes were significantly enriched in complement activation,immune response,and apoptotic *** K14-HPV16 mouse model also validated the remarkable efficacy of *** This study demonstrated that EHS is effective against HR-HPV infection and cervical ***,no obvious systemic toxicity was observed in patients during the *** superior efficacy and safety of EHS demonstrated its considerable value as a potential cost-effective drug for the treatment of HPV infection and HPV-related cervical diseases.

关键词： Traditional Chinese Medicine Erhuang suppository human papillomavirus cervical diseases transcriptomics

Autophagy in hepatic progenitor cells modulates exosomal miRNAs to inhibit liver fibrosis in schistosomiasis

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Frontiers of Medicine 2024年第3期18卷 538-557页

作者： Yue Yuan Jiaxuan Li Xun Lu Min Chen Huifang Liang Xiao-ping Chen Xin Long Bixiang Zhang Song Gong Xiaowei Huang Jianping Zhao Qian Chen Division of Gastroenterology Department of Internal Medicine at Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan430030China Hepatic Surgery Center Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan430030China Hubei Key Laboratory of Hepato–Pancreato–Biliary Diseases Wuhan430030China department of Trauma Surgery Tongji Trauma CenterTongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan430030China

Schistosoma infection is one of the major causes of liver *** roles of hepatic progenitor cells(HPCs)in the pathogenesis of liver fibrosis have been ***,the precise mechanism underlying the role of HPCs in liver fibrosis in schistosomiasis remains *** study examined how autophagy in HPCs affects schistosomiasis-induced liver fibrosis by modulating exosomal *** activation of HPCs was verified by immunohistochemistry(IHC)and immunofluorescence(IF)staining in fibrotic liver from patients and mice with Schistosoma japonicum *** coculturing HPCs with hepatic stellate cells(HSCs)and assessing the autophagy level in HPCs by proteomic analysis and in vitro phenotypic assays,we found that impaired autophagy degradation in these activated HPCs was mediated by lysosomal *** autophagy by the autophagy inhibitor chloroquine(CQ)significantly diminished liver fibrosis and granuloma formation in ***-infected ***-secreted extracellular vehicles(EVs)were further isolated and studied by miRNA ***-1306-3p,miR-493-3p,and miR-34a-5p were identified,and their distribution into EVs was inhibited due to impaired autophagy in HPCs,which contributed to suppressing HSC *** conclusion,we showed that the altered autophagy process upon HPC activation may prevent liver fibrosis by modulating exosomal miRNA release and inhibiting HSC activation in *** the autophagy degradation process may be a therapeutic strategy for liver fibrosis during Schistosoma infection.

关键词： schistosomiasis hepatic progenitor cell autophagy extracellular vesicle fibrosis miRNA

Animal models of eosinophilic esophagitis,review and perspectives

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Animal Models and Experimental Medicine 2024年第2期7卷 127-135页

作者： Dong Li Yujia Wei Jing Wang Bo Wang department of Dermatology Huazhong University of Science and Technology Tongji Medical College Tongji HospitalWuhanChina Health Management Center Huazhong University of Science and Technology Tongji Medical College Tongji HospitalWuhanChina department of Gastroenterology Huazhong University of Science and Technology Tongji Medical College Tongji HospitalWuhanChina

Eosinophilic oesophagitis(EoE)is an allergen/immune-mediated chronic esophageal disease characterized by esophageal mucosal eosinophilic infiltration and esophageal *** the disease was originally attributed to a delayed allergic reaction to allergens and a Th2-type immune response,the exact pathogenesis is complex,and the efficacy of existing treatments is ***,the study of the pathophysiological process of EOE has received increasing *** models have been used extensively to study the molecular mechanism of EOE pathogenesis and also provide a preclinical platform for human clinical intervention studies of novel therapeutic *** maximize the use of existing animal models of EOE,it is important to understand the advantages or limitations of each modeling *** paper systematically describes the selection of experimental animals,types of allergens,and methods of sensitization and excitation during the preparation of animal models of *** also discusses the utility and shortcomings of each model with the aim of providing the latest perspectives on EoE models and leading to better choices of animal models.

关键词： anaphylaxis disease models animal eosinophilic esophagitis methods

Ultrasound-guided paravertebral nerve block anesthesia for percutaneous endoscopic laser unroofing treatment of symptomatic simple renal cysts—An innovative ambulatory surgery mode

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Asian Journal of Urology 2024年第1期11卷 65-71页

作者： Jia Hu Yuan Zhang Yong Liu Xiao Yu Shaogang Wang department of Urology Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhanChina department of Anesthesiology Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhanChina

Objective:This study was designed to evaluate the feasibility,efficacy,and safety of percutaneous ureteroscopy laser unroofing as an ambulatory surgery for symptomatic simple renal cysts under multilevel paravertebral nerve block ***:From December 2015 to September 2017,33 simple renal cyst patients who had surgical indications were *** ultrasound guidance,the T10/T11,T11/T12,and T12/L1 paravertebral spaces were identified,and 7-10 mL 0.5%ropivacaine was injected at each *** a puncture needle was placed inside the cyst cavity under ultrasonic monitoring.A guidewire was introduced followed by sequential dilation up to 28/30 *** extra parenchymal portion of the cyst wall was dissociated and incised using a thulium laser,and a pathological examination was ***:Sensory loss to pinprick from T8 to L1 and sensory loss to ice from T6 to L2 were observed in all *** of the patients complained of pain during *** serious complications occurred *** the surgery,all patients recovered their lower limb muscle strength quickly,got out of bed,resumed oral feeding,and left the hospital within 24 h of *** pathologic diagnosis of all cyst walls was a simple renal *** mean follow-up was 35.8 *** the end of follow-up,the cyst units were reduced in size by more than 50%compared to the preoperative size,and no patient experienced a ***:Multi-level paravertebral nerve block for percutaneous ureteroscopy laser unroofing as an ambulatory surgery mode is feasible,safe,and effective for the treatment of simple renal cysts in selected patients.

关键词： Paravertebralnerve blockanesthesia Percutaneous puncture Simplerenalcyst Unroofing Ambulatorysurgery