1.Clinical characteristics of germline mutations in patients with myelodysplastic neoplasms
Xiaozhen LIU ; Yudi ZHANG ; Lingxu JIANG ; Chen MEI ; Li YE ; Liya MA ; Xinping ZHOU ; Hongyan TONG
Chinese Journal of Hematology 2025;46(6):537-543
Objective:To investigate the clinical characteristics and prognostic significance of germline mutations in patients with myelodysplastic neoplasms (MDS) .Methods:Clinical data from 407 patients with MDS [male, 252; female, 155; median age, 64 (range, 19-85) years] diagnosed at the First Affiliated Hospital of Zhejiang University School of Medicine were retrospectively analyzed. The clinical features and prognostic effects of germline mutations were evaluated.Results:The prevalence of germline mutations in patients with MDS was 5.9% (24/407), peaking at 20.0% in the group aged 21-30 years. The spectrum of germline mutations comprised DDX41 (9 cases, 2.2%), TP53 (3 cases, 0.7%), and single cases of RUNX1, TET2, MPL, CBL, ATRX, CEBPA, ETV6, IDH1, KDM5C, SBDS, GNAS, and CTC1. Patients with germline mutations exhibited significantly lower peripheral WBC counts than those without (1.87×10 9/L vs 2.50×10 9/L, P=0.018), but showed comparable median overall survival (21.3 months vs 21.1 months, P=0.97). Patients with DDX41 germline mutations, compared with those with other germline mutations, had a significantly older median age (65 vs 54 years, P=0.010), lower WBC counts (1.51×10 9/L vs 2.31×10 9/L, P=0.040), increased mean corpuscular volume (111.80 fl vs 97.25 fl, P=0.003), and a higher prevalence of normal karyotypes (100.0% vs 53.3%, P=0.022). The most frequently co-occurring somatic mutations in DDX41 germline mutation carriers were ASXL1, TET2, and RUNX1. Conclusion:In this study, the detection rate of germline mutations in MDS patients was 5.9% (24/407), peaking at 20% in the group aged 21-30 years. DDX41 and TP53 were the most prevalent germline mutations. DDX41 mutation carriers displayed distinct clinical characteristics; however, germline mutations overall showed no significant prognostic effect.
2.Drug resistance detection and molecular typing of diarrheagenic Escherichia coli in patients with diarrhea in Xiangshan County
Liuyan ZHANG ; Di FANG ; Shuo YE ; Xiaozhen ZHU ; Chuanjing XUE
Chinese Journal of Clinical Laboratory Science 2025;43(5):321-326
Objective To investigate the epidemiological status and molecular characteristics of diarrheagenic Escherichia coli(DEC)infection in Xiangshan County,providing a basis for its infection surveillance and outbreak control.Methods The real-time fluores-cence quantitative PCR(qRT-PCR)was used to detect virulence genes in isolated E.coli strains.The identified DEC strains were per-formed whole genome sequencing(WGS).The sequencing data were utilized for bacterial resistance gene analysis,multilocus sequence typing(MLST),and core genome multilocus sequence typing(cgMLST).Results A total of 29 DEC strains were isolated,with a detection rate of 9.8%.Enteroaggregative E.coli(EAEC)and enterotoxigenic E.coli(ETEC)were the main strains,accounting for 51.7%and 31.1%,respectively,while enteropathogenic E.coli(EPEC)had a relatively low proportion(17.2%).Drug resistance gene analysis showed that these strains were generally resistant to multiple antibiotics such as fluoroquinolones and carbapenems.MLST typing identified 19 sequence types(STs),including one novel ST type(STcpEC1).Among them,ST117,ST2178,ST31,and ST48 were dominant types.ETEC strains were mainly concentrated in the clonal complex CC-10,while the molecular typing of EAEC and EPEC strains was more dispersed.cgMLST analysis further confirmed the genetic characteristics of different DEC strains.Conclusion DEC infections in Xiangshan County are mainly caused by EAEC,ETEC,and EPEC.These strains have abundant resistance genes.Among them,the molecular typing of EAEC and EPEC is relatively dispersed,while ETEC is concentrated in the clonal complex CC-10.
3.Survey on oral health status of second-grade primary school students in Suzhou City
Yuwen ZHANG ; Bei LI ; Bing GE ; Ye ZHU ; Xiaozhen WANG ; Lu BAI ; Peng ZHU
STOMATOLOGY 2025;45(8):613-618,630
Objective To investigate the oral health status of second-grade primary school students in Suzhou,provide baseline data for evaluating Suzhou's"Bright Eyes and Healthy Teeth"public health project,and offer reference for formulating oral health policies for students in Suzhou.Methods A multi-stage,stratified,random sampling method was used to select 1 640 second-grade primary school students from 10 districts(county-level cities)across Suzhou.The oral health survey of primary school students in Suzhou was designedbased on WHO"Basic Methods for Oral Health Surveys"(5th edition).A survey on the students' oral health status was con-ducted.Results The caries prevalence,mean DMFT(Decayed,Missing,Filled Teeth),and caries filling rate for primary teeth among second-grade students in Suzhou were 80.73%,4.25,and 24.48%,respectively.For permanent teeth,the caries prevalence,mean DMFT(Decayed,Missing,Filled Teeth),and caries filling rate were 30.30%,0.62,and 16.96%,respectively.Specifically,the caries prevalence,mean DMFT,and filling rate for the first permanent molar were 29.88%,0.59,and 16.94%,respectively.The pit and fissure sealing rate for the first permanent molar was 13.74%.Additionally,the detection rate for gingival bleeding was 58.05%,and for dental calculus,49.15%.Conclusion The oral health status of second-grade primary school students in Suzhou is concerning.The caries prevalence rate for both primary and permanent teeth is high,while the filling rate is relatively low.Prior to the implementation of oral health programs,the pit and fissure sealing rate for the first permanent molars was low,with significant differ-ences observed between urban and rural areas,as well as among different districts(or county-level cities).
4.Study the influencing factors on the therapeutic effect of glucocorticoid impact in the treatment of active thyroid-related eye diseases
Xiangying ZHU ; Li DING ; Bin YE ; Xiaozhen JI
Chinese Journal of Postgraduates of Medicine 2025;48(10):890-894
Objective:To analyze the influencing factors on the therapeutic effect of glucocorticoid impact in the treatment of active thyroid-related eye diseases.Methods:A total of 106 patients with thyroid-related eye disease admitted to Lishui People's Hospital from December 2020 to January 2024 were retrospectively selected, all of whom were treated with glucocorticoid impact therapy. According to the efficacy, they were divided into poor efficacy group (34 cases) and good efficacy group (72 cases), and relevant clinical data of the two groups were compared. Single factor and multiple factor Logistic regression were used to analyze the risk factors affecting the curative effect.Results:The proportion of smoking history in the poor efficacy group was higher than that in the good efficacy group:73.53% (25/34) vs. 29.17% (21/72), there was statistical difference ( χ2 = 18.50, P<0.01). The thyroid stimulating hormone (TSH) and lymphocyte (LYM) in the poor efficacy group were lower than those in the good efficacy group: (0.08 ± 0.02) mU/L vs. (0.10 ± 0.02) mU/L, 0.175 ± 0.028 vs. 0.192 ± 0.031;the free triiodothyronine (FT 3), free thyroxine (FT 4), tumor necrosis factor - α (TNF- α), interleukin (IL) -6, IL-8, neutrophil-to-lymphocyte ratio (NLR), degree of proptosis, and clinical activity score (CAS) were higher than those in the good efficacy group: (5.28 ± 1.21) pmol/L vs. (4.73 ± 1.03) pmol/L, (15.52 ± 2.35) pmol/L vs. (14.28 ± 2.31) pmol/L, (11.82 ± 2.11) ng/L vs. (10.05 ± 2.04) ng/L, (2.12 ± 0.21) ng/L vs. (1.96 ± 0.18) ng/L, (38.56 ± 4.35) ng/L vs. (35.46 ± 4.21) ng/L, 2.52 ± 0.41 vs. 1.67 ± 0.37, (17.42 ± 2.44) mm vs. (15.32 ± 2.27) mm, (4.34 ± 0.65) scores vs. (3.98 ± 0.63) scores, there were statistical differences ( P<0.05). Multiple Logistic regression analysis showed that smoking history, TSH, FT 3, FT 4, TNF-ɑ, IL-6, IL-8, LYM, NLR, exophthalmia and CAS score were all included in the regression equation, and they were all influential factors affecting the efficacy of glucocorticoid shock therapy for thyroid-related eye diseases ( P<0.05). Conclusions:In active thyroid-related eye disease patients receiving glucocorticoid impact therapy, the efficacy may be affected by many factors, and comprehensive intervention should be implemented according to the actual situation to further improve the efficacy.
5.Drug resistance detection and molecular typing of diarrheagenic Escherichia coli in patients with diarrhea in Xiangshan County
Liuyan ZHANG ; Di FANG ; Shuo YE ; Xiaozhen ZHU ; Chuanjing XUE
Chinese Journal of Clinical Laboratory Science 2025;43(5):321-326
Objective To investigate the epidemiological status and molecular characteristics of diarrheagenic Escherichia coli(DEC)infection in Xiangshan County,providing a basis for its infection surveillance and outbreak control.Methods The real-time fluores-cence quantitative PCR(qRT-PCR)was used to detect virulence genes in isolated E.coli strains.The identified DEC strains were per-formed whole genome sequencing(WGS).The sequencing data were utilized for bacterial resistance gene analysis,multilocus sequence typing(MLST),and core genome multilocus sequence typing(cgMLST).Results A total of 29 DEC strains were isolated,with a detection rate of 9.8%.Enteroaggregative E.coli(EAEC)and enterotoxigenic E.coli(ETEC)were the main strains,accounting for 51.7%and 31.1%,respectively,while enteropathogenic E.coli(EPEC)had a relatively low proportion(17.2%).Drug resistance gene analysis showed that these strains were generally resistant to multiple antibiotics such as fluoroquinolones and carbapenems.MLST typing identified 19 sequence types(STs),including one novel ST type(STcpEC1).Among them,ST117,ST2178,ST31,and ST48 were dominant types.ETEC strains were mainly concentrated in the clonal complex CC-10,while the molecular typing of EAEC and EPEC strains was more dispersed.cgMLST analysis further confirmed the genetic characteristics of different DEC strains.Conclusion DEC infections in Xiangshan County are mainly caused by EAEC,ETEC,and EPEC.These strains have abundant resistance genes.Among them,the molecular typing of EAEC and EPEC is relatively dispersed,while ETEC is concentrated in the clonal complex CC-10.
6.Survey on oral health status of second-grade primary school students in Suzhou City
Yuwen ZHANG ; Bei LI ; Bing GE ; Ye ZHU ; Xiaozhen WANG ; Lu BAI ; Peng ZHU
STOMATOLOGY 2025;45(8):613-618,630
Objective To investigate the oral health status of second-grade primary school students in Suzhou,provide baseline data for evaluating Suzhou's"Bright Eyes and Healthy Teeth"public health project,and offer reference for formulating oral health policies for students in Suzhou.Methods A multi-stage,stratified,random sampling method was used to select 1 640 second-grade primary school students from 10 districts(county-level cities)across Suzhou.The oral health survey of primary school students in Suzhou was designedbased on WHO"Basic Methods for Oral Health Surveys"(5th edition).A survey on the students' oral health status was con-ducted.Results The caries prevalence,mean DMFT(Decayed,Missing,Filled Teeth),and caries filling rate for primary teeth among second-grade students in Suzhou were 80.73%,4.25,and 24.48%,respectively.For permanent teeth,the caries prevalence,mean DMFT(Decayed,Missing,Filled Teeth),and caries filling rate were 30.30%,0.62,and 16.96%,respectively.Specifically,the caries prevalence,mean DMFT,and filling rate for the first permanent molar were 29.88%,0.59,and 16.94%,respectively.The pit and fissure sealing rate for the first permanent molar was 13.74%.Additionally,the detection rate for gingival bleeding was 58.05%,and for dental calculus,49.15%.Conclusion The oral health status of second-grade primary school students in Suzhou is concerning.The caries prevalence rate for both primary and permanent teeth is high,while the filling rate is relatively low.Prior to the implementation of oral health programs,the pit and fissure sealing rate for the first permanent molars was low,with significant differ-ences observed between urban and rural areas,as well as among different districts(or county-level cities).
7.Study the influencing factors on the therapeutic effect of glucocorticoid impact in the treatment of active thyroid-related eye diseases
Xiangying ZHU ; Li DING ; Bin YE ; Xiaozhen JI
Chinese Journal of Postgraduates of Medicine 2025;48(10):890-894
Objective:To analyze the influencing factors on the therapeutic effect of glucocorticoid impact in the treatment of active thyroid-related eye diseases.Methods:A total of 106 patients with thyroid-related eye disease admitted to Lishui People's Hospital from December 2020 to January 2024 were retrospectively selected, all of whom were treated with glucocorticoid impact therapy. According to the efficacy, they were divided into poor efficacy group (34 cases) and good efficacy group (72 cases), and relevant clinical data of the two groups were compared. Single factor and multiple factor Logistic regression were used to analyze the risk factors affecting the curative effect.Results:The proportion of smoking history in the poor efficacy group was higher than that in the good efficacy group:73.53% (25/34) vs. 29.17% (21/72), there was statistical difference ( χ2 = 18.50, P<0.01). The thyroid stimulating hormone (TSH) and lymphocyte (LYM) in the poor efficacy group were lower than those in the good efficacy group: (0.08 ± 0.02) mU/L vs. (0.10 ± 0.02) mU/L, 0.175 ± 0.028 vs. 0.192 ± 0.031;the free triiodothyronine (FT 3), free thyroxine (FT 4), tumor necrosis factor - α (TNF- α), interleukin (IL) -6, IL-8, neutrophil-to-lymphocyte ratio (NLR), degree of proptosis, and clinical activity score (CAS) were higher than those in the good efficacy group: (5.28 ± 1.21) pmol/L vs. (4.73 ± 1.03) pmol/L, (15.52 ± 2.35) pmol/L vs. (14.28 ± 2.31) pmol/L, (11.82 ± 2.11) ng/L vs. (10.05 ± 2.04) ng/L, (2.12 ± 0.21) ng/L vs. (1.96 ± 0.18) ng/L, (38.56 ± 4.35) ng/L vs. (35.46 ± 4.21) ng/L, 2.52 ± 0.41 vs. 1.67 ± 0.37, (17.42 ± 2.44) mm vs. (15.32 ± 2.27) mm, (4.34 ± 0.65) scores vs. (3.98 ± 0.63) scores, there were statistical differences ( P<0.05). Multiple Logistic regression analysis showed that smoking history, TSH, FT 3, FT 4, TNF-ɑ, IL-6, IL-8, LYM, NLR, exophthalmia and CAS score were all included in the regression equation, and they were all influential factors affecting the efficacy of glucocorticoid shock therapy for thyroid-related eye diseases ( P<0.05). Conclusions:In active thyroid-related eye disease patients receiving glucocorticoid impact therapy, the efficacy may be affected by many factors, and comprehensive intervention should be implemented according to the actual situation to further improve the efficacy.
8.Clinical characteristics of germline mutations in patients with myelodysplastic neoplasms
Xiaozhen LIU ; Yudi ZHANG ; Lingxu JIANG ; Chen MEI ; Li YE ; Liya MA ; Xinping ZHOU ; Hongyan TONG
Chinese Journal of Hematology 2025;46(6):537-543
Objective:To investigate the clinical characteristics and prognostic significance of germline mutations in patients with myelodysplastic neoplasms (MDS) .Methods:Clinical data from 407 patients with MDS [male, 252; female, 155; median age, 64 (range, 19-85) years] diagnosed at the First Affiliated Hospital of Zhejiang University School of Medicine were retrospectively analyzed. The clinical features and prognostic effects of germline mutations were evaluated.Results:The prevalence of germline mutations in patients with MDS was 5.9% (24/407), peaking at 20.0% in the group aged 21-30 years. The spectrum of germline mutations comprised DDX41 (9 cases, 2.2%), TP53 (3 cases, 0.7%), and single cases of RUNX1, TET2, MPL, CBL, ATRX, CEBPA, ETV6, IDH1, KDM5C, SBDS, GNAS, and CTC1. Patients with germline mutations exhibited significantly lower peripheral WBC counts than those without (1.87×10 9/L vs 2.50×10 9/L, P=0.018), but showed comparable median overall survival (21.3 months vs 21.1 months, P=0.97). Patients with DDX41 germline mutations, compared with those with other germline mutations, had a significantly older median age (65 vs 54 years, P=0.010), lower WBC counts (1.51×10 9/L vs 2.31×10 9/L, P=0.040), increased mean corpuscular volume (111.80 fl vs 97.25 fl, P=0.003), and a higher prevalence of normal karyotypes (100.0% vs 53.3%, P=0.022). The most frequently co-occurring somatic mutations in DDX41 germline mutation carriers were ASXL1, TET2, and RUNX1. Conclusion:In this study, the detection rate of germline mutations in MDS patients was 5.9% (24/407), peaking at 20% in the group aged 21-30 years. DDX41 and TP53 were the most prevalent germline mutations. DDX41 mutation carriers displayed distinct clinical characteristics; however, germline mutations overall showed no significant prognostic effect.
9.Comparison of toxicity of Dichroa alkali salt in zebrafish larvae via intravenous administration and aqueous solution exposure
Xiaozhen HU ; Lina MA ; Changhui ZHENG ; Yuanyuan GUO ; Zuguang YE ; Junling CAO
Chinese Journal of Pharmacology and Toxicology 2024;38(8):595-603
OBJECTIVE To study the differences in toxicity between intravenous(iv)administration and aqueous solution exposure of Dichroa alkali salt(DAS)in zebrafish.METHODS ① Well-devel-oped zebrafish larvae of 2 d post fertilization(2 dpf)were randomly divided into the normal control(no treatment),solvent control(saline,iv),and DAS groups(0.125,0.25,0.50,1.00 and 2.00 mg·kg-1,iv)before being observed for 3 consecutive days after administration.A heart rate of 0 was determined as death of zebrafish,and the mortality rate,maximum non-lethal dose(MNLD),and 10 percent lethal dose(LD10)were calculated.The incidence of venous sinus congestion,pericardial edema,slowing heart rate and blood flow of zebrafish in the 0.50 and 2.00 mg·kg-1 groups were observed and calculated by somatoscopic microscopy at 4 h after drug administration.Zebrafish larvae were iv given DAS at doses of 0.041,0.136,0.412,and 0.452 mg·kg-1 while the malformation phenotypes of zebrafish larvae development were observed under a stereomicroscope for 3 consecutive days,including pericardial edema,abnormal heart rate,slow blood flow,loss of circulation,eye abnormalities,brain malforma-tions,jaw abnormalities,loss/degeneration of the liver,delayed yolk sac absorption,intestinal abnormal-ities,abnormal body coloration,body edema,curvature of the trunk/tail/nodal cord and muscle degener-ation before the incidence was calculated.②Zebrafish larvae were randomly divided into a normal control group and DAS aqueous solution exposure groups at concentrations of 2.5,5.0,10.0,25.0,50.0,75.0,and 100.0 mg·L-1,observed for 3 d until the mortality rate,LD10,and MNLD were calculated.Zebrafish were exposed to DAS aqueous solutions at concentrations of 0.32,1.06,3.20,and 11.00 mg·L-1,and the malformation phenotypes of zebrafish larvae development were observed under a stereomicro-scope for 3 consecutive days to calculate the incidence.RESULTS ① The MNLD and LD10 of DAS iv administered to zebrafish larvae were 0.412 and 0.452 mg·kg-1,respectively.Compared with the solvent control group,4 h after DAS iv administration,the incidence of sinus congestion,slow heart rate and pericardial edema in the 0.50 and 2.00 mg·kg-1 groups significantly increased(P<0.05,P<0.01),so was the incidence of slow blood flow in the 2.00 mg·kg-1 group(P<0.01).The rate of delayed yolk sac absorption was significantly increased in the 0.041,0.136,0.412,and 0.452 mg·kg-1 groups(P<0.05,P<0.01),so was the mortality rate in the 0.452 mg·kg-1 group(P<0.05),with pericardial edema observed in the dead zebrafish.② The MNLD and LD10 of DAS aqueous solution exposure for zebrafish larvae were 3.20 and 11.00 mg·L-1,respectively.Compared with the normal control group,the incidence of decreased heart rate and slow blood flow was significantly increased in the 3.20 and 11.00 mg·L-1 groups(P<0.01),so was the incidence of significantly darkened intestines in the 1.06,3.20,and 11.00 mg·L-1 groups(P<0.01).The incidence of delayed yolk sac absorption was significantly increased in the 0.32,1.06,3.20,and 11.00 mg·L-1 groups(P<0.05,P<0.01),so was the incidence of trunk curvature and lower jaw malformation in the 11.00 mg·L-1 group(P<0.01).CONCLUSION The toxic phenotypes of DAS are different between iv administration and aqueous solution exposure in zebrafish larvae.DAS aqueous solution exposure can not only lead to slow heart rate,slow blood rheology,delayed yolk sac absorption and intestinal blackening,but also induce neurodevelopmental toxicity.However,iv adminis-tration can effectively ward off significant gastrointestinal damage and neurodevelopmental toxicity.
10.Glucocorticoid hypersensitivity syndrome: A case report and review of literature
Xiaozhen YE ; Yixin XU ; Xinyi YANG ; Yanyan WANG ; Jiaqing SHAO
Chinese Journal of Endocrinology and Metabolism 2024;40(1):64-67
This article reports a patient with typical Cushing syndrome′s manifestations and extremely low plasma cortisol level, indicating glucocorticoid hypersensitivity syndrome. After treatment with the glucocorticoid receptor antagonist mifepristone, the patient′s Cushing symptoms were significantly relieved, and cortisol levels returned to normal. The aim of this report is to enhance clinical awareness among physicians regarding glucocorticoid hypersensitivity syndrome.

Result Analysis
Print
Save
E-mail