1.Genetic diversity analysis of oxacillinase in 241 clinical isolates of Pseudomonas aeruginosa
Yuelong LI ; Jingyi ZHANG ; Yubing FU ; Meiqing SUN ; Beibei MIAO ; Xinyi GONG ; Xiao HAN ; Huan XING ; Pengfang GAO ; Jiachen LI ; Yating TANG ; Xinya FAN ; Yanlei GE ; Haijian ZHOU ; Juan LI ; Aiying DONG
Chinese Journal of Preventive Medicine 2025;59(7):1004-1012
Objective:To analyze the carriage status, subtype distribution and flanking gene sequence characteristics of oxacillinases (OXA enzyme) in 241 clinical strains of Pseudomonas aeruginosa, and assess their roles in the drug resistance of Pseudomonas aeruginosa and ability to horizontally transfer across species. Methods:Clinical P. aeruginosa isolates were collected from four hospitals in Sanya, Tangshan, Zhangjiakou, and Beijing. The prevalence of oxacillinases and their flanking gene sequences was analyzed by whole-genome sequencing (NGS) and bioinformatic approaches. Results:A total of 241 isolates of P. aeruginosa were gathered, and 35 blaOXA subtypes were identified through screening of 252 blaOXA genes. These genes were classified into three subfamilies: blaOXA-50-like (241, 95.6%), blaOXA-1-like (9, 3.6%) and blaOXA-10-like (2, 0.8%). Among these, 11 subtypes (11, 31.4%) were novel blaOXA subtypes. Nine of these belonged to the blaOXA-50-like subfamily and were designated as blaOXA-1244, blaOXA-1245, blaOXA-1246, blaOXA-1250, blaOXA-1252, blaOXA-1253, blaOXA-1254, blaOXA-1255, and blaOXA-1256. The remaining two belonged to the blaOXA-10-like subfamily and were named blaOXA-1247 and blaOXA-1248. Compared to the amino acid sequence of OXA-10, the newly identified subtype OXA-1247 exhibited a mutation at position 117, where a valine was replaced by a leucine. This change was thought to improve the enzyme′s ability to hydrolyze carbapenems. In the analysis of the flanking sequences of the blaOXA genes, Class I integrons were identified in four bacterial strains. The variable regions of these integrons carried three distinct patterns of resistance gene cassettes: aac( 6′) -Ib-blaOXA-1247-ant( 3′′) -Ia, aac( 6′) -Ib-blaOXA-1248 and aac( 6′) -Ib- blaIMP-45-blaOXA-1-catB3. Among these, the strain BJ2326 carried a class I integron that was connected to the downstream IS CR1 element to form a composite class I integron structure, additionally carrying the resistance gene blaPER-1. Out of the 223 non-wild-type P. aeruginosa strains, 127 strains exhibited non-wild-type profiles to the four beta-lactam antibiotics MEM, CAZ, FEP, and TZP, with the combination of MEM+CAZ+FEP being the most prevalent, representing 57.0% of the total. Conclusions:The blaOXA genes in 241 clinical P. aeruginosa strains showed diversity. Some blaOXA genes had a co-transfer risk with the metallo-β-lactamase resistance gene blaIMP-45. Among the 11 newly discovered blaOXA subtypes, the new subtype OXA-1247 may have carbapenemase activity and potential for horizontal transfer.
2.Analysis of association of IL-23R gene polymorphisms with susceptibility for psoriasis.
Quan GAN ; Lixia WANG ; Beibei WANG ; Manman ZHANG ; Mingliang DONG ; Beibei SU
Chinese Journal of Medical Genetics 2025;42(4):505-511
OBJECTIVE:
To assess the association of single nucleotide polymorphisms (SNPs) of interleukin-23 receptor (IL-23R) gene with susceptibility to psoriasis.
METHODS:
Two hundred and ten psoriasis patients admitted to Xinxiang Central Hospital from January 2019 to December 2024 were selected as the study group, and 210 healthy individuals undergoing physical examination during the same period were selected as the control group. 3 mL of peripheral venous blood sample was collected from each individual from the two groups, and PCR-Restriction fragment length polymorphism (PCR-RFLP) assay was used to determine the polymorphisms of the IL-23R gene at rs2201841, rs1004819, rs10889677, rs1343151 and rs1495965 loci. Genotypic and allelic distribution of each SNP locus was calculated to assess the association between SNPs of the IL-23R gene with the onset of psoriasis, and the difference in serum IL-23 levels among patients with different genotypes at each locus was compared. This study was approved by the Medical Ethics Committee of Xinxiang Central Hospital (Ethic No. 2024-749).
RESULTS:
The results showed that the frequency of CC genotype at rs1004819 locus of the study group was significantly higher than that of the control group (26.19% vs. 18.10%, P < 0.05), and the frequency of C allele was also significantly higher than that of the control group (54.05% vs. 42.62%, P < 0.05). There was no significant difference in allelic and genotypic frequencies between the two groups at rs2201841, rs10889677, rs1343151, and rs1495965 loci (P > 0.05). The dominant and recessive inheritance patterns at the rs1004819 locus are associated with susceptibility to psoriasis (P < 0.05), while the different inheritance patterns at rs2201841, rs10889677, rs1343151, and rs1495965 loci are not associated with psoriasis (P > 0.05). The serum IL-23 levels of patients with CC genotype at the rs1004819 locus were higher than those with the CT and TT genotypes (P < 0.05). No significant difference was detected in the serum levels of IL-23 between patients with different genotypes for the rs2201841, rs10889677, rs1343151, and rs1495965 loci (P > 0.05).
CONCLUSION
The polymorphism at the rs1004819 locus of the IL-23R gene is associated with susceptibility to psoriasis, and individuals carrying the CC genotype and C allele have a higher risk of developing the disease.
Humans
;
Psoriasis/genetics*
;
Polymorphism, Single Nucleotide
;
Receptors, Interleukin/genetics*
;
Genetic Predisposition to Disease
;
Male
;
Female
;
Adult
;
Middle Aged
;
Genotype
;
Alleles
;
Gene Frequency
;
Case-Control Studies
;
Interleukin-23/blood*
3.Analysis of association of IL-23R gene polymorphisms with susceptibility for psoriasis
Quan GAN ; Lixia WANG ; Beibei WANG ; Manman ZHANG ; Mingliang DONG ; Beibei SU
Chinese Journal of Medical Genetics 2025;42(4):505-511
Objective:To assess the association of single nucleotide polymorphisms (SNPs) of interleukin-23 receptor ( IL-23R) gene with susceptibility to psoriasis. Methods:Two hundred and ten psoriasis patients admitted to Xinxiang Central Hospital from January 2019 to December 2024 were selected as the study group, and 210 healthy individuals undergoing physical examination during the same period were selected as the control group. 3 mL of peripheral venous blood sample was collected from each individual from the two groups, and PCR - Restriction fragment length polymorphism (PCR-RFLP) assay was used to determine the polymorphisms of the IL-23R gene at rs2201841, rs1004819, rs10889677, rs1343151 and rs1495965 loci. Genotypic and allelic distribution of each SNP locus was calculated to assess the association between SNPs of the IL-23R gene with the onset of psoriasis, and the difference in serum IL-23 levels among patients with different genotypes at each locus was compared. This study was approved by the Medical Ethics Committee of Xinxiang Central Hospital (Ethic No. 2024-749). Results:The results showed that the frequency of CC genotype at rs1004819 locus of the study group was significantly higher than that of the control group (26.19% vs. 18.10%, P<0.05), and the frequency of C allele was also significantly higher than that of the control group (54.05% vs. 42.62%, P<0.05). There was no significant difference in allelic and genotypic frequencies between the two groups at rs2201841, rs10889677, rs1343151, and rs1495965 loci ( P>0.05). The dominant and recessive inheritance patterns at the rs1004819 locus are associated with susceptibility to psoriasis ( P<0.05), while the different inheritance patterns at rs2201841, rs10889677, rs1343151, and rs1495965 loci are not associated with psoriasis ( P>0.05). The serum IL-23 levels of patients with CC genotype at the rs1004819 locus were higher than those with CT and TT genotypes ( P<0.05). No significant difference was detected in the serum levels of IL-23 between patients with different genotypes for the rs2201841, rs10889677, rs1343151, and rs1495965 loci ( P>0.05). Conclusion:The polymorphism at the rs1004819 locus of the IL-23R gene is associated with susceptibility to psoriasis, and individuals carrying the CC genotype and C allele have a higher risk of developing the disease.
4.Genetic diversity analysis of oxacillinase in 241 clinical isolates of Pseudomonas aeruginosa
Yuelong LI ; Jingyi ZHANG ; Yubing FU ; Meiqing SUN ; Beibei MIAO ; Xinyi GONG ; Xiao HAN ; Huan XING ; Pengfang GAO ; Jiachen LI ; Yating TANG ; Xinya FAN ; Yanlei GE ; Haijian ZHOU ; Juan LI ; Aiying DONG
Chinese Journal of Preventive Medicine 2025;59(7):1004-1012
Objective:To analyze the carriage status, subtype distribution and flanking gene sequence characteristics of oxacillinases (OXA enzyme) in 241 clinical strains of Pseudomonas aeruginosa, and assess their roles in the drug resistance of Pseudomonas aeruginosa and ability to horizontally transfer across species. Methods:Clinical P. aeruginosa isolates were collected from four hospitals in Sanya, Tangshan, Zhangjiakou, and Beijing. The prevalence of oxacillinases and their flanking gene sequences was analyzed by whole-genome sequencing (NGS) and bioinformatic approaches. Results:A total of 241 isolates of P. aeruginosa were gathered, and 35 blaOXA subtypes were identified through screening of 252 blaOXA genes. These genes were classified into three subfamilies: blaOXA-50-like (241, 95.6%), blaOXA-1-like (9, 3.6%) and blaOXA-10-like (2, 0.8%). Among these, 11 subtypes (11, 31.4%) were novel blaOXA subtypes. Nine of these belonged to the blaOXA-50-like subfamily and were designated as blaOXA-1244, blaOXA-1245, blaOXA-1246, blaOXA-1250, blaOXA-1252, blaOXA-1253, blaOXA-1254, blaOXA-1255, and blaOXA-1256. The remaining two belonged to the blaOXA-10-like subfamily and were named blaOXA-1247 and blaOXA-1248. Compared to the amino acid sequence of OXA-10, the newly identified subtype OXA-1247 exhibited a mutation at position 117, where a valine was replaced by a leucine. This change was thought to improve the enzyme′s ability to hydrolyze carbapenems. In the analysis of the flanking sequences of the blaOXA genes, Class I integrons were identified in four bacterial strains. The variable regions of these integrons carried three distinct patterns of resistance gene cassettes: aac( 6′) -Ib-blaOXA-1247-ant( 3′′) -Ia, aac( 6′) -Ib-blaOXA-1248 and aac( 6′) -Ib- blaIMP-45-blaOXA-1-catB3. Among these, the strain BJ2326 carried a class I integron that was connected to the downstream IS CR1 element to form a composite class I integron structure, additionally carrying the resistance gene blaPER-1. Out of the 223 non-wild-type P. aeruginosa strains, 127 strains exhibited non-wild-type profiles to the four beta-lactam antibiotics MEM, CAZ, FEP, and TZP, with the combination of MEM+CAZ+FEP being the most prevalent, representing 57.0% of the total. Conclusions:The blaOXA genes in 241 clinical P. aeruginosa strains showed diversity. Some blaOXA genes had a co-transfer risk with the metallo-β-lactamase resistance gene blaIMP-45. Among the 11 newly discovered blaOXA subtypes, the new subtype OXA-1247 may have carbapenemase activity and potential for horizontal transfer.
5.Analysis of association of IL-23R gene polymorphisms with susceptibility for psoriasis
Quan GAN ; Lixia WANG ; Beibei WANG ; Manman ZHANG ; Mingliang DONG ; Beibei SU
Chinese Journal of Medical Genetics 2025;42(4):505-511
Objective:To assess the association of single nucleotide polymorphisms (SNPs) of interleukin-23 receptor ( IL-23R) gene with susceptibility to psoriasis. Methods:Two hundred and ten psoriasis patients admitted to Xinxiang Central Hospital from January 2019 to December 2024 were selected as the study group, and 210 healthy individuals undergoing physical examination during the same period were selected as the control group. 3 mL of peripheral venous blood sample was collected from each individual from the two groups, and PCR - Restriction fragment length polymorphism (PCR-RFLP) assay was used to determine the polymorphisms of the IL-23R gene at rs2201841, rs1004819, rs10889677, rs1343151 and rs1495965 loci. Genotypic and allelic distribution of each SNP locus was calculated to assess the association between SNPs of the IL-23R gene with the onset of psoriasis, and the difference in serum IL-23 levels among patients with different genotypes at each locus was compared. This study was approved by the Medical Ethics Committee of Xinxiang Central Hospital (Ethic No. 2024-749). Results:The results showed that the frequency of CC genotype at rs1004819 locus of the study group was significantly higher than that of the control group (26.19% vs. 18.10%, P<0.05), and the frequency of C allele was also significantly higher than that of the control group (54.05% vs. 42.62%, P<0.05). There was no significant difference in allelic and genotypic frequencies between the two groups at rs2201841, rs10889677, rs1343151, and rs1495965 loci ( P>0.05). The dominant and recessive inheritance patterns at the rs1004819 locus are associated with susceptibility to psoriasis ( P<0.05), while the different inheritance patterns at rs2201841, rs10889677, rs1343151, and rs1495965 loci are not associated with psoriasis ( P>0.05). The serum IL-23 levels of patients with CC genotype at the rs1004819 locus were higher than those with CT and TT genotypes ( P<0.05). No significant difference was detected in the serum levels of IL-23 between patients with different genotypes for the rs2201841, rs10889677, rs1343151, and rs1495965 loci ( P>0.05). Conclusion:The polymorphism at the rs1004819 locus of the IL-23R gene is associated with susceptibility to psoriasis, and individuals carrying the CC genotype and C allele have a higher risk of developing the disease.
6.Risk of ovarian cancer in women with pelvic inflammatory disease and homologous recombination repair gene mutations under 55:a population-based cohort study
Chenzhao FENG ; Wanwan LUO ; Zanhong WANG ; Xi CAO ; Chunlin DONG ; Fuxia LI ; Rourou XIAO ; Bin YANG ; Gang CHEN ; Chaoyang SUN ; Zhiqiang HAN ; Xingjie HAO ; Beibei WANG
Journal of Gynecologic Oncology 2025;36(6):e126-
Objective:
To address the relation among pelvic inflammatory disease (PID), genetic vulnerability and ovarian cancer (OC) risk, we assessed the association between PID and OC risk, alongside the interplay with germline homologous recombination repair (gHR) mutation, utilizing the UK Biobank.
Methods:
We conducted a prospective cohort study in the UK Biobank by tracking OC incidences between individuals with and without a PID history. Identification of gHR mutations (BRCA1, BRCA2, RAD51C, RAD51D, BRIP1) carriers were accomplished through paired whole-exome sequencing data. We used Cox’s regression models to evaluate the hazard ratios (HRs) for OC risks under PID.
Results:
In the large prospective cohort study, the adjusted HR for OC in patients with PID was 1.45 (95% confidence interval [CI]=0.90, 2.32) compared with those with non-PID.Intriguingly, age-stratified analysis unveiled a positive association between PID history and OC risk in those aged under 55 years (HR=1.92; 95% CI=1.02, 3.63). Moreover, individuals aged younger than 55 years harboring both a history of PID and gHR mutations exhibited the highest risk of OC (HR=7.40; 95% CI=1.03, 53.10).
Conclusion
An association between PID and OC risk emerged, notably in the subgroup aged younger than 55 years old. Individuals with both a PID history and gHR mutations exhibited the highest risk of OC. These findings imply PID as a potential precursor for OC, underscoring the importance of early intervention, particularly in the younger population with gHR mutations.
7.Effect of early warning score combined with SBAR communication model on early warning of high-risk neonates
Li ZHAO ; Juan YIN ; Beibei JIA ; Yongmei HUANG ; Meifang HANG ; Limin DONG
Modern Clinical Nursing 2024;23(2):40-46
Objective To investigate the effect of early warning score system combined with(situation,background,ssessment,recommendation,SBAR)communication model in early warning of high-risk neonates,therefore to provide an effective communication method for an effective communication method to assess the changes of condition in neonates.Methods A before-after study model was adopted in the study.A total of 270 high-risk neonates admitted to the ward of the Department of Neonatology in a tertiary hospital between August and September 2022 were selected as research subjects.The high-risk neonates admitted in hospital in August were assigned in a control group,and those admitted in September were assigned in an trial group,with 135 neonates per group.Routine care was carried out in the control group,while early warning scoring combined with SBAR communication model were applied in the trial group on top of the cares offered to the control group.The occurrence of early warning events,concordance rate of nurse warning event and doctor handling events,and the satisfaction rate of doctors with the nursing performance were compared between the two groups.Results A total of 63.6%of early warning events were triggered by nurses in the control group,while it was 92.6%in the trial group,with a statistically significant difference between the groups(χ2=16.622,P<0.001).The consistency of handling of early warning events between the nurses and doctors in the trial group(Kappa coefficient=0.926)was higher than that in the control group(Kappa coefficient=0.641).The satisfaction rates of the doctors with the nurses about specialist knowledge,ability in emergency events,mastery of disease,timely observation of disease progress,collaboration between doctors and nurses,working enthusiasm,communication capability and the psychological quality in the trial group were all significantly higher than those in the control group[80.0%-95.0%vs.30.0%-55.0%,all P<0.01].Conclusions The Early Warning Score system combined with SBAR communication model can help nurses to accurately evaluate the changes of disease in neonates,complete the communication with doctors timely and effectively.It improves the observation,communication and handling capability among the nurses as well as the satisfaction rate of doctors with nursing work.
8.Clinical characteristics and prognosis analysis of acute myeloid leukemia patients with PTPN11 gene mutation
Qianshan TAO ; Wanying XUE ; Beibei XIE ; Qing ZHANG ; Huiping WANG ; Zhimin ZHAI ; Hui QIN ; Yi DONG
Acta Universitatis Medicinalis Anhui 2024;59(8):1483-1488,1494
Objective To investigate the clinical characteristics and prognosis of acute myeloid leukemia(AML)patients with PTPN11 gene mutation.Methods Total 115 adult AML patients who underwent initial diagnosis,treatment,and second-generation sequencing(NGS)detecting at hospital were recruited in this study.Clinical da-ta included disease characteristics,treatment efficacy,long-term prognosis,immune cell subpopulations,and leu-kemia stem cells were collected to analyze the clinical characteristics and prognosis of AML patients with PTPN11 gene mutation.Results PTPN11 gene mutation rate in newly diagnosed adult AML was 9.57%,and the mutation site mainly occurred in exon 3 region with all mutation type being point mutation.Compared with PTPN11 wild-type group,PTPN11 gene mutation group had a higher early mortality rate(18.18%vs 4.00%,P=0.048),a lower complete response rate(33.33%vs 67.71%,P=0.039),a higher recurrence rate(83.33%vs 42.31%,P=0.043),a shorter median overall survival time(9 months vs 20 months,P=0.026),a lower proportion of ef-fector T cells[(1.39±0.12)%vs(3.56±0.46)%,P=0.038],and a higher proportion of leukemia stem cells[(13.82±3.66)%vs(3.87±1.40)%,P=0.021].Conclusion PTPN11 gene mutation is a poor prognostic marker for AML.Those patients have a high early mortality rate,low complete remission rate,high recurrence rate,short median overall survival time,a low proportion of effector T cells,and a high proportion of leukemia stem cells.
9.Molecular characteristics and drug susceptibility analysis of Streptococcus agalactiae from respiratory specimen sources
Xiao HAN ; Xinyi GONG ; Beibei MIAO ; Huan XING ; Zeliang LIU ; Pengfang GAO ; Yuelong LI ; Jiachen LI ; Yating TANG ; Yanlei GE ; Aiying DONG ; Juan LI
Chinese Journal of Preventive Medicine 2024;58(6):891-897
To study the carriage status of drug susceptibility, clonal complex groups, serotypes, surface proteins and virulence genes of Streptococcus agalactiae from respiratory specimen sources. A total of 35 strains of S.agalactiae meeting the criteria were collected from 3 hospitals in 2 locations, Tangshan and Jinan. The age span of the patients was 3 days-92 years, and the percentage of elderly patients≥60 years was 71.5%.The susceptibility to 9 antimicrobial drugs was measured and analyzed using the micro broth dilution method. The strains were 100.0% sensitive to penicillin, linezolid, vancomycin, and ceftriaxone; However, it exhibits high resistance rates to erythromycin, clindamycin and levofloxacin, at 97.1%, 85.7% and 82.9% respectively; and the resistance rates to tetracycline and chloramphenicol were 34.3% and 14.2%, respectively. Genome sequence determination and analysis showed that 16 resistance genes were detected in 35 strains, among which: macrolide and lincosamide resistance genes were mainly ermB, with a carrying rate of 74.2%; tetracycline resistance genes were mainly tetM, with a carrying rate of 25.7%; in addition, the mutation rates of the quinolone resistance determinants gyrA and parC were 88.5% and 85.7%, respectively. 35 strains belonged to 6 ST types and 4 clonal groups, with CC10/ST10 as the main one, accounting for 62.8%; they contained 4 serotypes of Ⅰb, Ⅱ, Ⅲ, and Ⅴ, as well as 1 untyped strain, with serotype Ⅰb as the main one, accounting for 65.7%. The strains carried three pilus types, PI1+PI2a, PI2a and PI2b types, respectively, and detected five surface proteins, alpha, alp1, rib, srr, and r df_0594, and seven virulence factors, cba, cfb, cylE, fbsA, hylB, l mb, and pavA. Overall, S.agalactiae isolated from respiratory tract specimens is predominantly sourced from elderly patients, with CC10 strains being most prevalent. These strains harbor multiple drug-resistant and virulence genes, demonstrating elevated resistance rates to macrolides, lincosamides, and quinolones. This emphasizes the necessity for vigilant attention to the health threat posed by S. agalactiae from respiratory tract speciments of elderly patients.
10.Molecular characteristics and drug susceptibility analysis of Streptococcus agalactiae from respiratory specimen sources
Xiao HAN ; Xinyi GONG ; Beibei MIAO ; Huan XING ; Zeliang LIU ; Pengfang GAO ; Yuelong LI ; Jiachen LI ; Yating TANG ; Yanlei GE ; Aiying DONG ; Juan LI
Chinese Journal of Preventive Medicine 2024;58(6):891-897
To study the carriage status of drug susceptibility, clonal complex groups, serotypes, surface proteins and virulence genes of Streptococcus agalactiae from respiratory specimen sources. A total of 35 strains of S.agalactiae meeting the criteria were collected from 3 hospitals in 2 locations, Tangshan and Jinan. The age span of the patients was 3 days-92 years, and the percentage of elderly patients≥60 years was 71.5%.The susceptibility to 9 antimicrobial drugs was measured and analyzed using the micro broth dilution method. The strains were 100.0% sensitive to penicillin, linezolid, vancomycin, and ceftriaxone; However, it exhibits high resistance rates to erythromycin, clindamycin and levofloxacin, at 97.1%, 85.7% and 82.9% respectively; and the resistance rates to tetracycline and chloramphenicol were 34.3% and 14.2%, respectively. Genome sequence determination and analysis showed that 16 resistance genes were detected in 35 strains, among which: macrolide and lincosamide resistance genes were mainly ermB, with a carrying rate of 74.2%; tetracycline resistance genes were mainly tetM, with a carrying rate of 25.7%; in addition, the mutation rates of the quinolone resistance determinants gyrA and parC were 88.5% and 85.7%, respectively. 35 strains belonged to 6 ST types and 4 clonal groups, with CC10/ST10 as the main one, accounting for 62.8%; they contained 4 serotypes of Ⅰb, Ⅱ, Ⅲ, and Ⅴ, as well as 1 untyped strain, with serotype Ⅰb as the main one, accounting for 65.7%. The strains carried three pilus types, PI1+PI2a, PI2a and PI2b types, respectively, and detected five surface proteins, alpha, alp1, rib, srr, and r df_0594, and seven virulence factors, cba, cfb, cylE, fbsA, hylB, l mb, and pavA. Overall, S.agalactiae isolated from respiratory tract specimens is predominantly sourced from elderly patients, with CC10 strains being most prevalent. These strains harbor multiple drug-resistant and virulence genes, demonstrating elevated resistance rates to macrolides, lincosamides, and quinolones. This emphasizes the necessity for vigilant attention to the health threat posed by S. agalactiae from respiratory tract speciments of elderly patients.


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