1.Clinical characteristics and prenatal diagnosis of a fetus with Short-rib thoracic dysplasia syndrome due to variants of DYNC2H1 gene.
Chongyang ZHAO ; Guoping REN ; Jingjing BI ; Cuicui JING ; Xueting ZHOU ; Cimei LI
Chinese Journal of Medical Genetics 2025;42(11):1369-1374
OBJECTIVE:
To explore the prenatal features and genetic etiology of a fetus with Short-rib cage dysplasia (SRTD) due to variants of DYNC2H1 gene.
METHODS:
A pregnant women presented at Xinxiang Central Hospital in June 2020 for abnormal prenatal ultrasound findings was selected as the study subject. With informed consent obtained, amniotic fluid sample was extracted from the woman, and clinical data of the fetus were collected. Whole exome sequencing (WES) was carried out, and candidate variants were verified by Sanger sequencing. This study was approved by the Medical Ethics Committee of Xinxiang Central Hospital [Ethics No.: 2025-214-01(K)].
RESULTS:
At 25+6 weeks gestation, genetic testing revealed that the fetus has harbored compound heterozygous variants of the DYNC2H1 gene, namely c.10585C>T (p.Arg3529Ter) and c.8954T>G (p.Val2985Gly), which were derived from its father and mother, respectively. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.10585C>T (p.Arg3529Ter) and c.8954T>G (p.Val2985Gly) variants were classified as pathogenic (PVS1+PM2_supporting+PM3+PP5) and likely pathogenic (PM1+PM2_supporting+PM3+PP3), respectively. Bioinformatics analysis suggested that both variants may affect the 3D structure of the DYNC2H1 protein.
CONCLUSION
The compound heterozygous variants of c.10585C>T (p.Arg3529Ter) and c.8954T>G (p.Val2985Gly) of the DYNC2H1 gene probably underlay the pathogenesis of SRTD in the fetus. Above findings had facilitated prenatal diagnosis and genetic counseling for the couple.
Humans
;
Female
;
Pregnancy
;
Cytoplasmic Dyneins/chemistry*
;
Prenatal Diagnosis
;
Adult
;
Short Rib-Polydactyly Syndrome/diagnostic imaging*
;
Mutation
;
Exome Sequencing
;
Fetus/abnormalities*
;
Ultrasonography, Prenatal
2.A path analysis study on the relationship between the nursing organizational climate and work alienation among psychiatric nurses
Lan WANG ; Cuicui LIU ; Zhijiao ZHAO ; Li PANG ; Wenfu LI ; Qun MA ; Zhongli SHI
Chinese Journal of Nursing 2025;60(19):2397-2403
Objective To explore the effect of organizational climate on work alienation in psychiatric nurses,and the mediating role of psychological capital and positive coping styles between organizational climate and work alienation,in order to provide a reference for reducing work alienation among psychiatric nurses.Methods Convenience sampling method was used to select nurses working in 6 tertiary A psychiatric hospitals in Shandong Province from January to July 2024,and the general questionnaire,Nurses' Work Alienation Questionnaire,Organizational Climate Scale for Nursing,Psychological Capital Questionnaire,and Simple Coping Style Scale were used to conduct the survey and the mediation effect test.Results A total of 606 questionnaires were recovered,of which 572 were valid,and the validity rate of the questionnaires was 94.39%.Psychiatric nurses scored(89.58±13.69)for nursing organizational climate,(32.48±11.31)for work alienation,(97.28±19.12)for psychological capital,and(23.93±7.22)for positive coping styles.There was a direct effect of nursing organizational climate on work alienation(β=-0.681,95%CI=-0.824~-0.539).Psychological capital and positive coping styles acted as separate mediators and chain mediators in the effect of nursing organizational climate on work alienation(β=-0.116,-0.048,-0.019,95%CI=-0.182~-0.034,-0.086~-0.006,-0.042~-0.002).Conclusion There are multiple mediating effects of psychiatric nurses' psychological capital,positive coping styles between nursing organizational climate and work alienation.Nursing managers can enhance psychiatric nurses' psychological capital by creating a positive and healthy organizational climate,encouraging them to adopt positive coping styles to solve problems,and reducing work alienation.
3.Levels of serum thymic stromal lymphopoietin and double-negative T lymphocytes in children with bronchial asthma and their clinical significance
Long ZHAO ; Jing WANG ; Cuicui LIU ; Xiaolan SHI
Journal of Chinese Physician 2025;27(7):1019-1023
Objective:To analyze the levels of serum thymic stromal lymphopoietin (TSLP) and double-negative T lymphocytes (DNT) in children with bronchial asthma and their clinical significance.Methods:The clinical data of 147 children with bronchial asthma (study group) diagnosed and treated in Xi′an Children′s Hospital from January to March 2024 were retrospectively analyzed, and the clinical data of 120 children who underwent healthy physical examination in the hospital during the same period (control group) were selected. All subjects underwent serum TSLP and DNT detection. The study group was divided into controlled group (116 cases) and uncontrolled group (31 cases) according to the asthma control level. The levels of TSLP and DNT were compared between the two groups, and the factors affecting the asthma control level in children with bronchial asthma were analyzed. Receiver operating characteristic (ROC) curve was used to analyze the value of TSLP and DNT in predicting the asthma control level in children.Results:The serum TSLP level in the study group was higher than that in the control group, and the DNT level was lower than that in the control group (all P<0.05). The TSLP level, the proportion of severe cases, and the proportion of cases with family history of asthma in the uncontrolled group were higher than those in the controlled group, while the DNT level, age, and forced expiratory volume in the first second/forced vital capacity (FEV 1/FVC) were lower than those in the controlled group (all P<0.05). Multivariate stepwise logistic regression analysis showed that TSLP level ( OR=3.656, 95% CI: 2.091-6.392) and disease severity ( OR=2.561, 95% CI: 1.230-5.330) were independent risk factors affecting asthma control level in children, while DNT level ( OR=0.233, 95% CI: 0.122-0.442) and FEV 1/FVC level ( OR=0.287, 95% CI: 0.127-0.647) were independent protective factors (all P<0.05). ROC curve analysis showed that the sensitivities of TSLP, DNT, and their combination in predicting asthma control level were 74.20%, 71.00%, and 90.30% respectively; the specificities were 75.90%, 73.30%, and 91.40% respectively; the areas under the curve (AUC) were 0.821, 0.805, and 0.923 respectively (all P<0.05). Conclusions:Serum TSLP level is abnormally increased and DNT level is abnormally decreased in children with bronchial asthma. TSLP is an independent risk factor affecting asthma control level in children, and DNT is an independent protective factor. Combined detection of TSLP and DNT can better predict the asthma control status of patients in clinical practice.
4.Effects of maytansine on proliferation,migration,invasion,apoptosis and autophagy of human thyroid cancer cells
Na GU ; Cheng TAN ; Luyao WANG ; Hongsheng SHEN ; Xijing LI ; Xinyan LI ; Cuicui LIU ; Xiumei ZHAO
Practical Oncology Journal 2025;39(1):21-29
Objective The objective of this study was to investigate the effects of maytansine on proliferation,migration,in-vasion,apoptosis and autophagy of human thyroid cancer C643 cells.Methods C643 cells were treated with different concentrations(0.049,0.195,0.781,3.125,12.5,50 and 200 μmol/L)of maytansine,the effect of maytansine on the proliferation of C643 cells was detected by the sulforhodamine B(SRB)method,and the concentration of subsequent experiments was determined.C643 cells in the logarithmic growth stage period were divided into the control group,low-dose group,mid-dose group and high-dose group.The effects of maytansine on migration and invasion abilities of C643 cells were detected by cell scratch and Transwell chamber assay;The levels of reactive oxygen species(ROS)were detected by 2′,7′-dichlorofluorescein diacetate(DCFH-DA)fluorescent probe experi-ment;The apoptosis rate of C643 cells was detected by flow cytometry;The expression of proteins related to apoptosis or autophagy was detected by Western blot.Results Maytansine at concentrations of 0.049,0.195,0.781,3.125,12.5,50 and 200 μmol/L could in-hibit the proliferation of C643 cells(P<0.05),and exhibited a significant concentration time dependence.The half maximal inhibitory concentrations(IC50)at 24,48 and 72 h were 54.255,5.193 and 0.647 μmol/L,respectively;The cell scratch and Transwell chamber results showed that maytansine at concentrations of 0.1,1 and 10 μmol/L could reduce the migration and invasion abilities of C643 cells(P<0.05 and P<0.01).The fluorescence probe results showed that maytansine at concentrations of 0.1,1 and 10μmol/L could increase the intracellular ROS levels of C643 cells(P<0.01).The flow cytometry results showed that maytansine at concentrations of 0.1,1 and 10 μmol/L could concentration dependently increase the apoptosis rate of C643 cells(P<0.01).The Western blot results showed that with the increase of maytansine concentrations,the expression of Bax protein related to apoptosis in C643 cells increased(P<0.05),the expression of Bcl-2 decreased(P<0.05),the expression of LC3Ⅱ/Ⅰ(P<0.05)and Beclin-1(P<0.01)increased,while the expression of p62 decreased(P<0.001).Conclusion Maytansine can inhibit the proliferation,migration and invasion of human thyroid cancer C643 cells,and induce the synergistic effect on apoptosis and autophagy by increasing intracellular ROS levels.
5.Granulocyte colony-stimulating factor in neutropenia management after CAR-T cell therapy: A safety and efficacy evaluation in refractory/relapsed B-cell acute lymphoblastic leukemia.
Xinping CAO ; Meng ZHANG ; Ruiting GUO ; Xiaomei ZHANG ; Rui SUN ; Xia XIAO ; Xue BAI ; Cuicui LYU ; Yedi PU ; Juanxia MENG ; Huan ZHANG ; Haibo ZHU ; Pengjiang LIU ; Zhao WANG ; Yu ZHANG ; Wenyi LU ; Hairong LYU ; Mingfeng ZHAO
Chinese Medical Journal 2025;138(1):111-113
6.Investigation of plague sources in the border port areas of Longchuan County, Yunnan Province in 2022
Zhengxiang LIU ; Yuqiong LI ; Mei HONG ; Wei LIANG ; Qiuxiang YANG ; Shilong YANG ; Cuicui ZHAO ; Zihou GAO ; Zongti SHAO
Chinese Journal of Endemiology 2025;44(6):467-471
Objective:To investigate the host and vector composition of pestis and the epidemic situation of pestis among animals in the border port areas of Longchuan County, Yunnan Province.Methods:In September 2022, a survey was conducted on rodents and their surface parasitic fleas in the border port areas of Longchuan County, according to three habitat types: residential areas, agricultural areas, and forest-shrubbery areas. Samples of murine animals organs and their surface parasitic fleas were collected for isolation and identification of Yersinia pestis. Blood samples of plague indicating animals, such as murine animals, dogs and cats were collected, and serum plague F1 antibody was detected by indirect hemagglutination assay. Meanwhile, a retrospective investigation was conducted on the occurrence of self dead rats, sick rats, and suspected cases in the local area from 2018 to 2022 through interviews with farmers. Results:A total of 168 murine animals belonging to 3 orders, 5 families, 10 genera, and 11 species were captured in three habitats in Longchuan County. Among them, the capture rate in residential areas was 5.00% (30/600), with Rattus tanezumi and Suncus murinus as dominant species, with a composition ratio of 50.00% (15/30). The capture rate in agricultural areas was 9.67% (122/1 262), with Rattus tanezumi and Suncus murinus as dominant species, with a composition ratio of 50.82% (62/122) and 44.26% (54/122), respectively. The capture rate in the forest-shrubbery areas was 6.25% (16/256), with Hylomys suillus and Eothenomys eleusis as dominant species, with a composition ratio of 37.50% (6/16) and 31.25% (5/16), respectively. Among the captured murine animals, 20 individuals carried 52 parasitic fleas, belonging to 2 species of 2 genera and 2 families. The total flea infection rate was 11.90% (20/168), and the total flea index was 0.31 (52/168). The dominant specie was Xenopsylla cheopis (90.38%, 47/52). The flea infection rate in residential areas was 33.33% (10/30), and the flea index was 1.23 (37/30). The flea infection rate in agricultural areas was 7.38% (9/122), and the flea index was 0.11 (14/122). The flea infection rate in the forest-shrubbery areas was 6.25% (1/16), and the flea index was 0.06 (1/16). The samples of murine animals and their parasitic fleas obtained were isolated and cultured by Yersinia pestis, and the results were negative. A total of 144 serum samples from murine animals, dogs and cats were separated, and no F1 antibody against pestis was detected. According to interviews and investigations, no abnormal situations such as a large number of self dead rats, sick rats, and suspected cases were found from 2018 to 2022. Conclusions:No plague epidemic has been found in the border port areas of Longchuan County recently. The main host of plague, Rattus tanezumi, and the main vector, Xenopsylla cheopis, remain the dominant species in this area.
7.Evidence-based practice for pain management in patients after hepatectomy
Yushuo NIU ; Cuicui LI ; Lin WANG ; Yajun LI ; Runan ZHAO ; Xiaohong HOU
Chinese Journal of Modern Nursing 2025;31(15):2022-2030
Objective:To carry out evidence-based practice for postoperative pain management in patients undergoing hepatectomy based on the knowledge to action (KTA) framework, and to evaluate the application effects of the best evidence.Methods:A systematic review of databases on pain management for hepatectomy patients both domestically and internationally was conducted to form the best evidence. This was combined with the Postoperative pain assessment and nursing in adults group standard to form quality review indicators. From November to December 2023, a baseline review was conducted with 21 healthcare staff and 31 patients undergoing laparoscopic hepatectomy at the Hepatobiliary Surgery Department of Shandong Provincial Hospital. The barriers to evidence-based practice were analyzed, and the best evidence application and transformation actions were implemented. A re-evaluation was conducted from January to March 2024 after applying the evidence with 31 laparoscopic hepatectomy patients and 21 healthcare staff. The execution rates of the review indicators, patient pain levels, satisfaction with pain control, and patient comfort were compared before and after evidence application. Results:After applying the evidence, the execution rate of the review indicators by healthcare staff increased to 19.35%-100.00%. Post-intervention, the pain scores at postoperative immediate, 6, 12, 24, and 48 hours were significantly lower than before the evidence application, and the differences were statistically significant ( P<0.05). Additionally, post-intervention, the patients' satisfaction with pain control and comfort scores were significantly higher than before the evidence application, and the differences were statistically significant ( P<0.05) . Conclusions:The application of the best evidence for pain management in hepatectomy, combined with the construction of quality review indicators and evidence-based practice, can alleviate postoperative pain in patients, improve their satisfaction, and enhance their comfort.
8.A path analysis study on the relationship between the nursing organizational climate and work alienation among psychiatric nurses
Lan WANG ; Cuicui LIU ; Zhijiao ZHAO ; Li PANG ; Wenfu LI ; Qun MA ; Zhongli SHI
Chinese Journal of Nursing 2025;60(19):2397-2403
Objective To explore the effect of organizational climate on work alienation in psychiatric nurses,and the mediating role of psychological capital and positive coping styles between organizational climate and work alienation,in order to provide a reference for reducing work alienation among psychiatric nurses.Methods Convenience sampling method was used to select nurses working in 6 tertiary A psychiatric hospitals in Shandong Province from January to July 2024,and the general questionnaire,Nurses' Work Alienation Questionnaire,Organizational Climate Scale for Nursing,Psychological Capital Questionnaire,and Simple Coping Style Scale were used to conduct the survey and the mediation effect test.Results A total of 606 questionnaires were recovered,of which 572 were valid,and the validity rate of the questionnaires was 94.39%.Psychiatric nurses scored(89.58±13.69)for nursing organizational climate,(32.48±11.31)for work alienation,(97.28±19.12)for psychological capital,and(23.93±7.22)for positive coping styles.There was a direct effect of nursing organizational climate on work alienation(β=-0.681,95%CI=-0.824~-0.539).Psychological capital and positive coping styles acted as separate mediators and chain mediators in the effect of nursing organizational climate on work alienation(β=-0.116,-0.048,-0.019,95%CI=-0.182~-0.034,-0.086~-0.006,-0.042~-0.002).Conclusion There are multiple mediating effects of psychiatric nurses' psychological capital,positive coping styles between nursing organizational climate and work alienation.Nursing managers can enhance psychiatric nurses' psychological capital by creating a positive and healthy organizational climate,encouraging them to adopt positive coping styles to solve problems,and reducing work alienation.
9.Effects of maytansine on proliferation,migration,invasion,apoptosis and autophagy of human thyroid cancer cells
Na GU ; Cheng TAN ; Luyao WANG ; Hongsheng SHEN ; Xijing LI ; Xinyan LI ; Cuicui LIU ; Xiumei ZHAO
Practical Oncology Journal 2025;39(1):21-29
Objective The objective of this study was to investigate the effects of maytansine on proliferation,migration,in-vasion,apoptosis and autophagy of human thyroid cancer C643 cells.Methods C643 cells were treated with different concentrations(0.049,0.195,0.781,3.125,12.5,50 and 200 μmol/L)of maytansine,the effect of maytansine on the proliferation of C643 cells was detected by the sulforhodamine B(SRB)method,and the concentration of subsequent experiments was determined.C643 cells in the logarithmic growth stage period were divided into the control group,low-dose group,mid-dose group and high-dose group.The effects of maytansine on migration and invasion abilities of C643 cells were detected by cell scratch and Transwell chamber assay;The levels of reactive oxygen species(ROS)were detected by 2′,7′-dichlorofluorescein diacetate(DCFH-DA)fluorescent probe experi-ment;The apoptosis rate of C643 cells was detected by flow cytometry;The expression of proteins related to apoptosis or autophagy was detected by Western blot.Results Maytansine at concentrations of 0.049,0.195,0.781,3.125,12.5,50 and 200 μmol/L could in-hibit the proliferation of C643 cells(P<0.05),and exhibited a significant concentration time dependence.The half maximal inhibitory concentrations(IC50)at 24,48 and 72 h were 54.255,5.193 and 0.647 μmol/L,respectively;The cell scratch and Transwell chamber results showed that maytansine at concentrations of 0.1,1 and 10 μmol/L could reduce the migration and invasion abilities of C643 cells(P<0.05 and P<0.01).The fluorescence probe results showed that maytansine at concentrations of 0.1,1 and 10μmol/L could increase the intracellular ROS levels of C643 cells(P<0.01).The flow cytometry results showed that maytansine at concentrations of 0.1,1 and 10 μmol/L could concentration dependently increase the apoptosis rate of C643 cells(P<0.01).The Western blot results showed that with the increase of maytansine concentrations,the expression of Bax protein related to apoptosis in C643 cells increased(P<0.05),the expression of Bcl-2 decreased(P<0.05),the expression of LC3Ⅱ/Ⅰ(P<0.05)and Beclin-1(P<0.01)increased,while the expression of p62 decreased(P<0.001).Conclusion Maytansine can inhibit the proliferation,migration and invasion of human thyroid cancer C643 cells,and induce the synergistic effect on apoptosis and autophagy by increasing intracellular ROS levels.
10.Investigation of plague sources in the border port areas of Longchuan County, Yunnan Province in 2022
Zhengxiang LIU ; Yuqiong LI ; Mei HONG ; Wei LIANG ; Qiuxiang YANG ; Shilong YANG ; Cuicui ZHAO ; Zihou GAO ; Zongti SHAO
Chinese Journal of Endemiology 2025;44(6):467-471
Objective:To investigate the host and vector composition of pestis and the epidemic situation of pestis among animals in the border port areas of Longchuan County, Yunnan Province.Methods:In September 2022, a survey was conducted on rodents and their surface parasitic fleas in the border port areas of Longchuan County, according to three habitat types: residential areas, agricultural areas, and forest-shrubbery areas. Samples of murine animals organs and their surface parasitic fleas were collected for isolation and identification of Yersinia pestis. Blood samples of plague indicating animals, such as murine animals, dogs and cats were collected, and serum plague F1 antibody was detected by indirect hemagglutination assay. Meanwhile, a retrospective investigation was conducted on the occurrence of self dead rats, sick rats, and suspected cases in the local area from 2018 to 2022 through interviews with farmers. Results:A total of 168 murine animals belonging to 3 orders, 5 families, 10 genera, and 11 species were captured in three habitats in Longchuan County. Among them, the capture rate in residential areas was 5.00% (30/600), with Rattus tanezumi and Suncus murinus as dominant species, with a composition ratio of 50.00% (15/30). The capture rate in agricultural areas was 9.67% (122/1 262), with Rattus tanezumi and Suncus murinus as dominant species, with a composition ratio of 50.82% (62/122) and 44.26% (54/122), respectively. The capture rate in the forest-shrubbery areas was 6.25% (16/256), with Hylomys suillus and Eothenomys eleusis as dominant species, with a composition ratio of 37.50% (6/16) and 31.25% (5/16), respectively. Among the captured murine animals, 20 individuals carried 52 parasitic fleas, belonging to 2 species of 2 genera and 2 families. The total flea infection rate was 11.90% (20/168), and the total flea index was 0.31 (52/168). The dominant specie was Xenopsylla cheopis (90.38%, 47/52). The flea infection rate in residential areas was 33.33% (10/30), and the flea index was 1.23 (37/30). The flea infection rate in agricultural areas was 7.38% (9/122), and the flea index was 0.11 (14/122). The flea infection rate in the forest-shrubbery areas was 6.25% (1/16), and the flea index was 0.06 (1/16). The samples of murine animals and their parasitic fleas obtained were isolated and cultured by Yersinia pestis, and the results were negative. A total of 144 serum samples from murine animals, dogs and cats were separated, and no F1 antibody against pestis was detected. According to interviews and investigations, no abnormal situations such as a large number of self dead rats, sick rats, and suspected cases were found from 2018 to 2022. Conclusions:No plague epidemic has been found in the border port areas of Longchuan County recently. The main host of plague, Rattus tanezumi, and the main vector, Xenopsylla cheopis, remain the dominant species in this area.

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