1.Analysis of Whole Exome Sequencing Result in Adult Genetic Diseases
Li ZHANG ; Yaoyi GAO ; Li YU ; Xianhong SHU ; Jingmin ZHOU ; Jing DING ; Chunjiu ZHONG ; Chunyan ZHAN ; Baishen PAN ; Beili WANG ; Wei GUO
Chinese Journal of Laboratory Medicine 2024;47(10):1192-1196
Objective:To investigate the effectiveness and feasibility of whole exome sequencing (WES), as a molecular diagnosis technique, for adult patients with genetic diseases.Methods:The present retrospective analysis included 445 adult patients (ages 18-80 years) with suspected genetic diseases who underwent whole exome sequencing (WES) from August 2021 to December 2022. The pathogenicity classification of each variant was assessed in accordance with the recommendations developed by the American Society of Medical Genetics and Genomics.Results:The overall positive rate of WES among adult patients with suspected genetic diseases was 28.08% (125/445). The highest positive rate was observed in the age group of 41-50 years (34.33%, 23/67). Among the diagnosed genetic diseases, those affecting the cardiovascular system (63.16%, 84/133), nervous system (18.05%, 24/133), and endocrine system (13.53%, 18/133) ranked as the top three. The most common genetic diseases identified through WES in adult patients were hypertrophic cardiomyopathy (18.80%, 25/133), dilated cardiomyopathy (16.54%, 22/133), Marfan syndrome (15.04%, 20/133), epilepsy (9.02%, 12/133), and familial hypercholesterolemia (4.51%, 6/133). The main causative genes identified included FBN1 (14.29%, 19/133), MYBPC3 (9.02%, 12/133), MYH7 (9.02%, 12/133), LDLR (3.76%, 5/133), TTN (3.76%, 5/133), and TNNI3 (3.01%, 4/133).Conclusion:Applying the WES technique in clinical practice can improve the diagnostic rate of adult genetic diseases, especially in adult patients with suspected genetic conditions involving the cardiovascular system, nervous system, and endocrine system.
2.The effect of job autonomy on job engagement in health care workers:the chain mediating role of in-terpersonal facilitation and occupational calling
Jin WU ; Handan WANG ; Yan WU ; Yongting YANG ; Xianhong HUANG ; Hao ZHANG ; Xiaohe WANG ; Liming ZHU
Modern Hospital 2024;24(6):887-890
Objective To explore the chain mediating effect of interpersonal promotion and calling on work autonomy and work engagement of medical staff.Methods From June to July 2023,a total of 310 medical staff from 5 tertiary public hos-pitals in Hangzhou were selected by convenience sampling.The questionnaire included work autonomy scale,interpersonal promo-tion scale,calling scale and work engagement scale for accurate and effective investigation,and data analysis was conducted using SPSS2 6.0 and AMOS 26.0.Results A total of 310 questionnaires were distributed and 257 were recovered with a recovery rate of 82.90%.There were statistically significant differences in work engagement among medical staff with different ages,marital status,working time,titles and positions(all P<0.05).Calling partially mediated the effect of work autonomy on work engage-ment(95%CI[0.090,0.291],P<0.001),and interpersonal promotion and calling played a partially chain mediating role be-tween work autonomy and work engagement(95%CI[0.016,0.103],P<0.001).Conclusion Interpersonal promotion and calling play a partially chain mediating role between work autonomy and work engagement of medical staff.Work autonomy of medical staff not only has an indirect effect on work engagement through the mediating role of calling,but also enhances calling through interpersonal promotion and ultimately affects work engagement.
3.Value of evaluating segmental myocardial work heterogeneity in the prediction of cardiac resynchronization therapy response
Mengruo ZHU ; Yanan WANG ; Yufei CHENG ; Haiyan CHEN ; Xianhong SHU
Chinese Journal of Ultrasonography 2024;33(6):468-474
Objective:To explore the value of myocardial work difference between left ventricular lateral wall and septum at baseline in the prediction of cardiac resynchronization therapy (CRT) response and compare their predictive performance with conventional echocardiographic parameters.Methods:One hundred and six heart failure patients who were retrospectively recruited from January 2021 to January 2023, underwent speckle tracking echocardiography before CRT and at 6-month follow-up.Global work index (GWI), global constructive work (GCW), global wasted work (GWW), global work efficiency (GWE), as well as segmental myocardial work index (MWI), constructive work (CW), wasted work (WW) and myocardial work efficiency (MWE), were acquired from non-invasive left ventricular pressure-strain loops before CRT. The differences of all myocardial work indices between left ventricular lateral wall and septum (L-S) at the mid-ventricular level, namely, L-S MWI, L-S CW, L-S WW and L-S MWE were calculated. Response to CRT was defined as left ventricular end-systolic volume reduction ≥15% at 6-month follow-up.Results:CRT response was present in seventy-eight (74%, 78/105) patients. ①At baseline, responders exhibited significantly higher GWI and GCW than non-responders (both P<0.05). ②Besides, L-S MWI, L-S CW, L-S WW and L-S MWE were significant higher in CRT responders than in non-responders at baseline (all P<0.01). ③In multivariate regression analysis, baseline LV end-diastolic volume (LVEDV) ( OR=0.993, 95% CI=0.987-0.999, P=0.020), interventricular mechanical delay (IVMD) ( OR=1.025, 95% CI=1.001-1.050, P=0.040) and L-S MWI ( OR=1.002, 95% CI=1.001-1.003, P=0.001) were identified as independent predictors of CRT response. ④ROC analysis demonstrated that L-S MWI (AUC=0.830, P<0.001) was the most powerful predictor of CRT response and was superior to LVEDV (AUC=0.718, P<0.01) and IVMD (AUC=0.704, P=0.001). ⑤L-S MWI >884 mmHg% was recommended to predict CRT response with the optimal sensitivity of 76% and specificity of 86%. Conclusions:The noninvasive evaluation of myocardial work heterogeneity between left ventricular lateral wall and septum is more valuable than conventional parameters in predicting CRT response and guiding patient selection before CRT, which helps to further improve CRT response rate.
4.Construction and Application of Comprehensive Evaluation System of Operation Benefit of Clinical Departments in Cancer Hospitals
Jin WU ; Yan WU ; Binru FANG ; Shunjie JIANG ; Yongting YANG ; Hao ZHANG ; Xianhong HUANG ; Xiaohe WANG ; Liming ZHU
Chinese Hospital Management 2024;44(8):33-36
Objective To build a comprehensive evaluation system for the operating benefit of clinical departments in cancer hospitals,so as to provide data support for the fine operation management of hospitals.Methods Literature review and semi-structured interview were used to form the index pool.Two rounds of Delphi expert consultation were used to determine the index of the evaluation system,and the analytic hierarchy process was used to determine the index weight.Finally,the weighted TOPSIS was used for empirical case analysis.Results The positive coefficient in the two rounds of Delphi expert consultation were 82.6%and 100%,the authority coefficient was 0.808,and the coordination coefficient was between 0 and 1.All indexes at all levels passed the consistency test.Finally,a comprehensive evaluation system consisting of 4 dimensions,19 indexes in surgery,16 indicators in radiotherapy and 16 indicators in internal medicine was constructed.Indicators at all levels were tested for consistency,resulting in the construction of a comprehensive evaluation system consisting of 4 dimensions,19 indicators for surgery and 16 indicators each for radiotherapy and internal medicine departments.Conclusion The comprehensive evaluation system of operating benefit of clinical departments in cancer hospitals can help hospitals and departments to find out the shortcomings of operation,build the path of operating benefit improvement,and realize the connotation improvement and high-quality development of hospitals.
5.Construction and Application of Comprehensive Evaluation System of Operation Benefit of Clinical Departments in Cancer Hospitals
Jin WU ; Yan WU ; Binru FANG ; Shunjie JIANG ; Yongting YANG ; Hao ZHANG ; Xianhong HUANG ; Xiaohe WANG ; Liming ZHU
Chinese Hospital Management 2024;44(8):33-36
Objective To build a comprehensive evaluation system for the operating benefit of clinical departments in cancer hospitals,so as to provide data support for the fine operation management of hospitals.Methods Literature review and semi-structured interview were used to form the index pool.Two rounds of Delphi expert consultation were used to determine the index of the evaluation system,and the analytic hierarchy process was used to determine the index weight.Finally,the weighted TOPSIS was used for empirical case analysis.Results The positive coefficient in the two rounds of Delphi expert consultation were 82.6%and 100%,the authority coefficient was 0.808,and the coordination coefficient was between 0 and 1.All indexes at all levels passed the consistency test.Finally,a comprehensive evaluation system consisting of 4 dimensions,19 indexes in surgery,16 indicators in radiotherapy and 16 indicators in internal medicine was constructed.Indicators at all levels were tested for consistency,resulting in the construction of a comprehensive evaluation system consisting of 4 dimensions,19 indicators for surgery and 16 indicators each for radiotherapy and internal medicine departments.Conclusion The comprehensive evaluation system of operating benefit of clinical departments in cancer hospitals can help hospitals and departments to find out the shortcomings of operation,build the path of operating benefit improvement,and realize the connotation improvement and high-quality development of hospitals.
6.Construction and Application of Comprehensive Evaluation System of Operation Benefit of Clinical Departments in Cancer Hospitals
Jin WU ; Yan WU ; Binru FANG ; Shunjie JIANG ; Yongting YANG ; Hao ZHANG ; Xianhong HUANG ; Xiaohe WANG ; Liming ZHU
Chinese Hospital Management 2024;44(8):33-36
Objective To build a comprehensive evaluation system for the operating benefit of clinical departments in cancer hospitals,so as to provide data support for the fine operation management of hospitals.Methods Literature review and semi-structured interview were used to form the index pool.Two rounds of Delphi expert consultation were used to determine the index of the evaluation system,and the analytic hierarchy process was used to determine the index weight.Finally,the weighted TOPSIS was used for empirical case analysis.Results The positive coefficient in the two rounds of Delphi expert consultation were 82.6%and 100%,the authority coefficient was 0.808,and the coordination coefficient was between 0 and 1.All indexes at all levels passed the consistency test.Finally,a comprehensive evaluation system consisting of 4 dimensions,19 indexes in surgery,16 indicators in radiotherapy and 16 indicators in internal medicine was constructed.Indicators at all levels were tested for consistency,resulting in the construction of a comprehensive evaluation system consisting of 4 dimensions,19 indicators for surgery and 16 indicators each for radiotherapy and internal medicine departments.Conclusion The comprehensive evaluation system of operating benefit of clinical departments in cancer hospitals can help hospitals and departments to find out the shortcomings of operation,build the path of operating benefit improvement,and realize the connotation improvement and high-quality development of hospitals.
7.Construction and Application of Comprehensive Evaluation System of Operation Benefit of Clinical Departments in Cancer Hospitals
Jin WU ; Yan WU ; Binru FANG ; Shunjie JIANG ; Yongting YANG ; Hao ZHANG ; Xianhong HUANG ; Xiaohe WANG ; Liming ZHU
Chinese Hospital Management 2024;44(8):33-36
Objective To build a comprehensive evaluation system for the operating benefit of clinical departments in cancer hospitals,so as to provide data support for the fine operation management of hospitals.Methods Literature review and semi-structured interview were used to form the index pool.Two rounds of Delphi expert consultation were used to determine the index of the evaluation system,and the analytic hierarchy process was used to determine the index weight.Finally,the weighted TOPSIS was used for empirical case analysis.Results The positive coefficient in the two rounds of Delphi expert consultation were 82.6%and 100%,the authority coefficient was 0.808,and the coordination coefficient was between 0 and 1.All indexes at all levels passed the consistency test.Finally,a comprehensive evaluation system consisting of 4 dimensions,19 indexes in surgery,16 indicators in radiotherapy and 16 indicators in internal medicine was constructed.Indicators at all levels were tested for consistency,resulting in the construction of a comprehensive evaluation system consisting of 4 dimensions,19 indicators for surgery and 16 indicators each for radiotherapy and internal medicine departments.Conclusion The comprehensive evaluation system of operating benefit of clinical departments in cancer hospitals can help hospitals and departments to find out the shortcomings of operation,build the path of operating benefit improvement,and realize the connotation improvement and high-quality development of hospitals.
8.Construction and Application of Comprehensive Evaluation System of Operation Benefit of Clinical Departments in Cancer Hospitals
Jin WU ; Yan WU ; Binru FANG ; Shunjie JIANG ; Yongting YANG ; Hao ZHANG ; Xianhong HUANG ; Xiaohe WANG ; Liming ZHU
Chinese Hospital Management 2024;44(8):33-36
Objective To build a comprehensive evaluation system for the operating benefit of clinical departments in cancer hospitals,so as to provide data support for the fine operation management of hospitals.Methods Literature review and semi-structured interview were used to form the index pool.Two rounds of Delphi expert consultation were used to determine the index of the evaluation system,and the analytic hierarchy process was used to determine the index weight.Finally,the weighted TOPSIS was used for empirical case analysis.Results The positive coefficient in the two rounds of Delphi expert consultation were 82.6%and 100%,the authority coefficient was 0.808,and the coordination coefficient was between 0 and 1.All indexes at all levels passed the consistency test.Finally,a comprehensive evaluation system consisting of 4 dimensions,19 indexes in surgery,16 indicators in radiotherapy and 16 indicators in internal medicine was constructed.Indicators at all levels were tested for consistency,resulting in the construction of a comprehensive evaluation system consisting of 4 dimensions,19 indicators for surgery and 16 indicators each for radiotherapy and internal medicine departments.Conclusion The comprehensive evaluation system of operating benefit of clinical departments in cancer hospitals can help hospitals and departments to find out the shortcomings of operation,build the path of operating benefit improvement,and realize the connotation improvement and high-quality development of hospitals.
9.Construction and Application of Comprehensive Evaluation System of Operation Benefit of Clinical Departments in Cancer Hospitals
Jin WU ; Yan WU ; Binru FANG ; Shunjie JIANG ; Yongting YANG ; Hao ZHANG ; Xianhong HUANG ; Xiaohe WANG ; Liming ZHU
Chinese Hospital Management 2024;44(8):33-36
Objective To build a comprehensive evaluation system for the operating benefit of clinical departments in cancer hospitals,so as to provide data support for the fine operation management of hospitals.Methods Literature review and semi-structured interview were used to form the index pool.Two rounds of Delphi expert consultation were used to determine the index of the evaluation system,and the analytic hierarchy process was used to determine the index weight.Finally,the weighted TOPSIS was used for empirical case analysis.Results The positive coefficient in the two rounds of Delphi expert consultation were 82.6%and 100%,the authority coefficient was 0.808,and the coordination coefficient was between 0 and 1.All indexes at all levels passed the consistency test.Finally,a comprehensive evaluation system consisting of 4 dimensions,19 indexes in surgery,16 indicators in radiotherapy and 16 indicators in internal medicine was constructed.Indicators at all levels were tested for consistency,resulting in the construction of a comprehensive evaluation system consisting of 4 dimensions,19 indicators for surgery and 16 indicators each for radiotherapy and internal medicine departments.Conclusion The comprehensive evaluation system of operating benefit of clinical departments in cancer hospitals can help hospitals and departments to find out the shortcomings of operation,build the path of operating benefit improvement,and realize the connotation improvement and high-quality development of hospitals.
10.Construction and Application of Comprehensive Evaluation System of Operation Benefit of Clinical Departments in Cancer Hospitals
Jin WU ; Yan WU ; Binru FANG ; Shunjie JIANG ; Yongting YANG ; Hao ZHANG ; Xianhong HUANG ; Xiaohe WANG ; Liming ZHU
Chinese Hospital Management 2024;44(8):33-36
Objective To build a comprehensive evaluation system for the operating benefit of clinical departments in cancer hospitals,so as to provide data support for the fine operation management of hospitals.Methods Literature review and semi-structured interview were used to form the index pool.Two rounds of Delphi expert consultation were used to determine the index of the evaluation system,and the analytic hierarchy process was used to determine the index weight.Finally,the weighted TOPSIS was used for empirical case analysis.Results The positive coefficient in the two rounds of Delphi expert consultation were 82.6%and 100%,the authority coefficient was 0.808,and the coordination coefficient was between 0 and 1.All indexes at all levels passed the consistency test.Finally,a comprehensive evaluation system consisting of 4 dimensions,19 indexes in surgery,16 indicators in radiotherapy and 16 indicators in internal medicine was constructed.Indicators at all levels were tested for consistency,resulting in the construction of a comprehensive evaluation system consisting of 4 dimensions,19 indicators for surgery and 16 indicators each for radiotherapy and internal medicine departments.Conclusion The comprehensive evaluation system of operating benefit of clinical departments in cancer hospitals can help hospitals and departments to find out the shortcomings of operation,build the path of operating benefit improvement,and realize the connotation improvement and high-quality development of hospitals.

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