1.Genetic disease diagnosis and treatment in Shanghai: Survey and countermeasures for clinical genetics specialist training.
Xiaoju HUANG ; Lin HAN ; Li CAO ; Taosheng HUANG ; Duan MA ; Jian WANG ; Wenjuan QIU ; Fanyi ZENG ; Luming SUN ; Chenming XU ; Songchang CHEN ; Xinyu KUANG ; Hong TIAN
Chinese Journal of Medical Genetics 2026;43(4):241-247
OBJECTIVE:
To investigate the current status of clinical genetics specialization development and the diagnostic and therapeutic capabilities for hereditary diseases across medical institutions in Shanghai, and to assess the necessity and feasibility of establishing training bases for clinical genetics specialists.
METHODS:
By employing a cross-sectional survey design, the Clinical Genetics Committee of Shanghai Medical Association has conducted questionnaire surveys from March to April 2025 across 54 healthcare institutions in Shanghai (including 33 tertiary hospitals and 21 secondary hospitals). The survey involved administrative departments and medical personnel from 15 clinical specialties. The survey has covered current genetic disease diagnosis and treatment practices, relevant and specialised disease types, genetic department establishment, testing capabilities, personnel teams, and training requirements.
RESULTS:
The results revealed that 78.0% of clinical departments surveyed had treated patients with hereditary disorders. Shanghai possesses diagnostic and therapeutic expertise for over 95% of hereditary diseases listed in its rare disease catalogue, reflecting both the practical clinical demand for such conditions and the city's overall diagnostic and therapeutic strengths in this field. Nevertheless, significant disparities exist in the development of genetics departments across different tiers of healthcare institutions. Resources for genetic testing capabilities (including molecular, cellular, and biochemical testing) are also unevenly distributed across different tiers of hospitals. The survey further revealed that only 26.0% of departments believe that their current physician structure fully meets the diagnostic and treatment demands. Over 90% of departments consider standard training for clinical genetic specialists necessary, with 74.0% expressing willingness to participate in establishing training bases. Based on above findings and thorough deliberation, the Clinical Genetics Committee of the Shanghai Medical Association proposes advancing specialist training and discipline development through establishing a standard training system. The committee has drafted a three-year training protocol featuring a "joint training"-centered model, recommending a pilot-first, dynamically optimized strategy for steadily advancing training base development.
CONCLUSION
Shanghai faces substantial demand for genetic disease diagnosis and treatment, yet exhibits shortcomings in clinical genetics specialization development, resource allocation, and talent pipeline cultivation. To establish a standard training system holds significant practical importance and is underpinned by a broad demand.
Humans
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China
;
Surveys and Questionnaires
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Genetic Diseases, Inborn/genetics*
;
Cross-Sectional Studies
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Genetics, Medical/education*
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Genetic Testing
2.Expression and enzymatic characterization of a chitosanase with tolerance to a wide range of pH from Bacillus atrophaeus.
Wenjuan DU ; Awagul TURSUN ; Zhiqin DONG ; Huijuan MA ; Zhenghai MA
Chinese Journal of Biotechnology 2025;41(1):352-362
To screen and identify a chitosanase with high stability, we cloned the chitosanase gene from Bacillus atrophaeus with a high protease yield from the barren saline-alkali soil and expressed this gene in Escherichia coli. The expressed chitosanase of B. atrophaeus (BA-CSN) was purified by nickel-affinity column chromatography. The properties including optimal temperature, optimal pH, substrate specificity, and kinetic parameters of BA-CSN were characterized. The results showed that BA-CSN had the molecular weight of 31.13 kDa, the optimal temperature of 55 ℃, the optimal pH 5.5, and good stability at temperatures below 45 ℃ and pH 4.0-9.0. BA-CSN also had good stability within 4 h of pH 3.0 and 10.0, be activated by K+, Na+, Mn2+, Ca2+, Mg2+, and Co2+, (especially by Mn2+), and be inhibited by Fe3+, Cu2+, and Ag+. BA-CSN showcased the highest relative activity in the hydrolysis of colloidal chitosan, and it had good hydrolysis ability for colloidal chitin. Under the optimal catalytic conditions, BA-CSN demonstrated the Michaelis constant Km and maximum reaction rate Vmax of 9.94 mg/mL and 26.624 μmoL/(mL·min), respectively, for colloidal chitosan. In short, BA-CSN has strong tolerance to acids and alkali, possessing broad industrial application prospects.
Bacillus/genetics*
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Hydrogen-Ion Concentration
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Escherichia coli/metabolism*
;
Glycoside Hydrolases/biosynthesis*
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Substrate Specificity
;
Enzyme Stability
;
Chitosan/metabolism*
;
Temperature
;
Kinetics
;
Cloning, Molecular
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Bacterial Proteins/biosynthesis*
;
Recombinant Proteins/genetics*
3.Construction and validation of a machine learning-based prediction model for intraoperative hypothermia in general anesthesia surgery patients
Min FENG ; Muhataile JIAYINAER ; Wenjuan MA ; Li LI
Chinese Journal of Modern Nursing 2025;31(21):2837-2844
Objective:To construct and validate a prediction model for intraoperative hypothermia in general anesthesia surgery patients based on machine learning algorithm.Methods:Convenience sampling was used to retrospectively collect data from 1 075 general anesthesia surgery patients in the First Teaching Hospital of Xinjiang Medical University from March to August 2023, which were randomly divided into modeling set and validation set in the ratio of 7∶3. Combining LASSO regression with the random forest algorithm, intraoperative hypothermia risk factors were screened. Models were constructed based on six machine learning algorithms, Logistic regression, decision tree, support vector machine (SVM) , extreme gradient boosting (XGBoost) , multilayer perceptron (MLP) and K-Nearest Neighbors (KNN) , and evaluate the performance of all models. Web-based dynamic nomogram was developed and interpretable analysis of the optimal model was performed using SHAP graph.Results:According to LASSO regression and random forest algorithm, length of anesthesia, intraoperative blood loss, baseline body temperature, age, intraoperative urine volume, and type of surgery were risk factors for intraoperative hypothermia in patients under general anesthesia, and the difference was statistically significant ( P<0.05) . The areas under the receiver operating characteristic curve for Logistic regression, decision tree, XGBoost, KNN, MLP, and SVM models were 0.777, 0.746, 0.793, 0.743, 0.768, 0.793, and the F1 scores were 0.667, 0.719, 0.861, 0.756, 0.820, and 0.842, respectively. Decision curve showed that the net benefit of the XGBoost model for predicting intraoperative hypothermia in patients was high when the threshold probability was between 0 and 1. A web-based dynamic nomogram was developed with good clinical applicability and generalizability. Conclusions:A dynamic nomogram of intraoperative hypothermia in general anesthesia surgery patients constructed and validated based on the machine learning algorithm can assist medical and nursing staff in identifying patients at high risk of intraoperative hypothermia and implementing personalized interventions.
4.Assessment for the best evidence of preventing fire accident in electrical surgery of operation room
Li LI ; Yuan HU ; Wenjuan MA ; Likun LUO ; Min FENG ; Shuangfeng ZHENG
China Medical Equipment 2025;22(10):120-127
Objective:To search,evaluate and integrate the best evidence of preventing fire accident in electrical surgery of domestic and international operating room,so as to provide reference for clinical practice of equipment in electrical surgery of operating room.Methods:This study conducted a literature review for domestically and internationally support systems of clinical decision,guideline websites,websites of nursing professional association,and Chinese-English databases.A series of relative literatures of fire accident in electrical surgery of operating room were included,which focused on clinical decisions,guidelines,evidence summaries,systematic evaluations,and expert consensus.The search period covered from the establishment date of database to November 12,2024,and the included literatures only limited to be English and Chinese publications.Two researchers who received evidence-based training independently evaluated the quality of these literatures,and they extracted and integrated information meeting quality standards according to professional judgment.Results:A total of 4,807 literatures were obtained after preliminary search.Then,a total of 12 research literatures were included,including 1 clinical decision,4 guidelines,1 evidence summary,3 systematic reviews and 3 expert consensus.The 20 best evidences of preventing fire accident in electrical surgery of operating room were summarized from three aspects:risk factors,risk assessment and preventive measures.Conclusion:The best evidence of preventing fire accident in electrical surgery of operating room can provide evidence-based evidences for the standardized management for electrical surgery of operation room,and provide basis for formulating management plan of preventing fire accident in electrical surgery of operation room,and for standardizing practice behavior of medical staffs.The evidence transformation should combined with actual clinical situation,and should reasonably select and prudently apply evidences.
5.Interpretation of the group standard of " Humanistic Caring Management Standards for Patients in the Operating Room"
Ruiying YU ; Xinyue MIAO ; Qingmin ZHANG ; Yilan LIU ; Shujie GUO ; Huiling LI ; Guo CHEN ; Chunlan ZHOU ; Ting LIU ; Shuhua DENG ; Hongzhen XIE ; Yu CHENG ; Yinglan LI ; Yanlan MA ; Xia XIN ; Yanjin LIU ; Yongyi CHEN ; Gendi LU ; Xiaoqin GAN ; Feng XU ; Zuwei XIA ; Li HE ; Qinqin CHEN ; Fukang ZHANG ; Songmei WU ; Yi LI ; Wenjuan ZHOU
Chinese Journal of Hospital Administration 2025;41(7):512-517
Humanistic caring for patients in the operating room refers to providing the whole process of caring medical services for patients in the operating room. In order to standardize humanistic caring services for patients in the operating room of medical institutions, improve the comprehensive service level of the operating room, and enhance the surgical experience of patients, the Chinese Association for Life Care released the group standard " Humanistic Caring Management Standards for Patients in the Operating Room" in December 2023. This article interpreted the basic requirements for humanistic caring of patients in the operating room, the environment and facilities for humanistic caring, the procedures and measures for humanistic caring, and the quality management framework, aiming to assist administrators and clinical practitioners across various levels of medical institutions in accurately understanding and effectively implementing the standard, and to provide essential textual reference and practical guidance for promoting the application of the standard.
6.Application of peripheral blood inflammatory markers in prognosis evaluation of patients with acute-on-chronic liver failure
Xuefang YANG ; Xiaoqing YANG ; Haiwen MA ; Wenjuan SHI ; Hong WAN ; Jianyun WANG
Journal of Clinical Hepatology 2025;41(11):2418-2423
Acute-on-chronic liver failure (ACLF) refers to severe liver dysfunction that occurs on the basis of chronic liver diseases, and it is characterized by rapid disease progression, poor prognosis, and high mortality rate. In recent years, inflammatory markers have become a research hotspot due to their significant role in assessing the prognosis of ACLF. This article reviews the advances in the application of inflammatory markers in assessing the prognosis of ACLF, such as systemic immune inflammatory index, lymphocyte-white blood cell ratio, neutrophil-lymphocyte ratio, and C-reactive protein, and discusses their clinical value and future research directions, in order to provide a theoretical basis for the early intervention and prognosis management of ACLF patients.
7.Association between photodynamic diagnosis and treatment efficacy of 5-aminolevulinic acid photodynamic therapy for cutaneous squamous cell carcinoma in situ
Qinyuan ZHU ; Wenjuan MA ; Jing LUAN ; Wenyu WU ; Shujun CHEN
Journal of Chongqing Medical University 2025;50(8):1115-1121
Objective:To investigate the association between photodynamic diagnosis(PDD)and treatment efficacy of 5-aminolevu-linic acid(ALA)photodynamic therapy(PDT)in patients with cutaneous squamous cell carcinoma in situ(cSCCis).Methods:A pro-spective cohort study was conducted among the patients with cSCCis who underwent ALA-PDT in Department of Dermatology,Huashan Hospital,Fudan University,from January 2020 to November 2024.All patients were diagnosed with cSCCis based on biopsy,and invasive squamous cell carcinoma was excluded.Clinical information was collected and PDD was performed before treatment,and the patients were divided into moderate fluorescence group and strong fluorescence groups based on fluorescence intensity.All patients received six sessions of PDT treatment at an interval of 1-2 weeks.The primary endpoint was the initial complete clearance rate at 3 months after the last treatment session,and secondary endpoints were the sustained complete clearance rate at 12 months after the last treatment session and treatment failure rate.The multivariate regression analysis,the survival curves,and the Cox regression analysis were used to investigate the association between PDD fluorescence intensity and treatment efficacy,as well as other influencing factors for treatment efficacy.Results:Compared with the strong fluorescence group,the moderate fluorescence group had significantly lower initial complete clearance rate[57.14%(8/14)vs.93.33%(28/30),odds ratio OR=0.100,P=0.010]and sustained complete clearance rate[42.86%(6/14)vs.76.67%(23/30),OR=0.230,P=0.030)].The multivariate regression analysis showed that moderate fluores-cence was an independent risk factor for initial complete clearance(OR=0.030,P=0.030).The moderate fluorescence group had a significantly higher treatment failure rate than the strong fluorescence group[57.14%(8/14)vs.23.33%(7/30),P=0.030].The survival analysis and the Cox regression analysis showed that moderate fluo-rescence was an independent risk factor for PDT treatment failure(hazard ratio=3.040,P=0.048).There were no significant differences in adverse reactions between the two groups.Conclusion:PDD fluorescence intensity can predict the efficacy of ALA-PDT in patients with cSCCis.Moderate fluorescence indicates a higher risk of treatment failure,which can help to guide clinicians in develop-ing individualized treatment strategies.
8.The role of immune cells in the occurrence and development of liver fibrosis
Wenjuan MA ; Xuguo YANG ; Zhenyu TIE ; Yongmao ZHANG ; Zhenxiang WANG
Chongqing Medicine 2025;54(8):1936-1939
Hepatic fibrosis(HF)is an inevitable process for many chronic liver diseases to develop into liver cirrhosis and even liver cancer.More than 80%of hepatocellular carcinomas are formed after the process of chronic hepatitis,HF or liver cirrhosis.The immune microenvironment produced by inflammation and fi-brosis plays a significant role in promoting the occurrence and development of hepatocellular carcinoma.He-patic stellate cells(HSC),extracellular matrix(ECM),and fibroblasts are involved in the progression of HF by influencing innate immunity and adaptive immunity.This article,by analyzing the role of immune cells in HF,is expected to provide new intervention approaches and therapeutic targets for the clinical treatment of HF,thereby further enhancing the effectiveness of immunotherapy and offering safer and more effective treat-ment options for HF patients.
9.Demand for follow-up care services after outpatient surgery for patients
Lingling WANG ; Baolan MA ; Chao SUN ; Shasha CHEN ; Wenni SUN ; Wenjuan ZHU
Journal of Navy Medicine 2025;46(11):1099-1102
Objective To investigate the demand for postoperative follow-up care services among patients after outpatient surgery,to optimize the care service process,and to enhance the quality of outpatient care,so as to ensure timely and effective follow-up care after outpatient surgery and improve their satisfaction and rehabilitation outcomes.Methods A total of 156 patients who underwent outpatient surgical procedures at Navy 971 Hospital from January 2023 to December 2023 were enrolled as research subjects through convenient sampling.A self-designed questionnaire was used to investigate the general information of patients,their demand for postoperative follow-up care,and the recognition of follow-up care forms.The questionnaires were distributed and collected by professional personnel of the outpatient surgery room.The related service items of follow-up care were statistically analyzed using percentages and descriptive analysis.Results Of the 156 questionnaires distributed,all(100%)were returned and valid.Among the patients undergoing outpatient surgery,91.7%required follow-up care services.The follow-up care services with the highest demand among naval vessel personnel were self-observation and care guidance for wounds(90.4%),seeking help for wound discomfort(86.5%),and postoperative follow-up and health education(75.6%).The most recognized forms of follow-up care services were telephone follow-up(88.5%),remote consultation(76.3%),and on-site visits by medical teams(62.2%).Conclusion There is a high demand for follow-up care services among patients after outpatient surgery.Hospitals should establish a complete follow-up care service model and care teams based on the actual needs of patients and the requirements of health education,and formulate personalized follow-up care plans.
10.Develop and assessment of a predictive model for the first-course efficacy of acute myeloid leukemia
Feng ZHU ; Yile ZHOU ; Yi ZHANG ; Liping MAO ; De ZHOU ; Liya MA ; Chunmei YANG ; Wenjuan YU ; Xingnong YE ; Juying WEI ; Haitao MENG ; Min YANG ; Wenyuan MAI ; Jiejing QIAN ; Yanling REN ; Yinjun LOU ; Jian HUANG ; Gaixiang XU ; Wanzhuo XIE ; Hongyan TONG ; Huafeng WANG ; Jie JIN
Chinese Journal of Hematology 2025;46(4):336-342
Objective:To identify the relevant factors for the first-course remission of acute myeloid leukemia (AML) and to develop a predictive model as well as assess its predictive capability.Methods:Clinical data of 749 patients newly diagnosed with AML admitted to the Department of Hematology, the First Affiliated Hospital, Zhejiang University, School of Medicine from January 1, 2019, to April 30, 2023, were collected and randomly divided into training and validation sets. Multivariate logistic regression analysis was conducted to determine variables associated with complete remission in the first course of induction therapy, and a predictive model was established based on these variables. The receiver operating characteristic (ROC) curve of the predictive model was plotted, and the area under the curve (AUC) was calculated.Results:The indicators predicting the first remission course included peripheral blood white blood cell count during onset, CBF::MYH11 fusion gene, CEBPA bZIP region mutation, myelodysplastic syndrome-related gene mutation, and induction chemotherapy regimen selection as independent factors for the first remission course. The model’s area under the training and validation curves was 0.738 (95% CI: 0.696-0.780) and 0.726 (95% CI: 0.650-0.801), respectively. The Hosmer-Lemeshow test results yielded P-values of 0.993 and 0.335, respectively. Conclusion:In this study, the developed model demonstrates a strong predictive capability for the efficacy of the first course of patients with AML, providing valuable guidance to clinicians in assessing patient prognosis and selecting appropriate treatment strategies.

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