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 ; China ; Surveys and Questionnaires ; Genetic Diseases, Inborn/genetics* ; Cross-Sectional Studies ; Genetics, Medical/education* ; Genetic Testing

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.

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.

Objective To investigate the therapeutic effects of modified Lizhong Decoction on gastric and duodenal ulcers(GDU)of the spleen-stomach cold deficiency type,as well as its influence on gastric function and inflammatory mediators.Methods From April 2023 to May 2025,patients diagnosed with gastric dyspepsia of the spleen and stomach cold deficiency type at Nanyang First People's Hospital were randomly assigned to either the Western medicine group(n=53)or the combined therapy group(n=53).The Western medicine group received oral rabeprazole sodium enteric-coated tablets and sucralfate suspension,while the combined therapy group received the same Western medication regimen plus modified Lizhong Decoction.Both groups underwent a 6-week treatment course.Outcomes including clinical efficacy after 6 weeks,gastric mucosal morphology scores,gastric function,levels of inflammatory mediators,mucosal repair-related factors,oxidative stress markers,quality of life before and after treatment,and treatment safety were compared between the two groups.Results The total effective rate in the combined group after 6 weeks of treatment was significantly higher than that in the Western medicine group(P<0.05).After 6 weeks of treatment,both groups showed reduced mucosal thickness,inflammatory cell infiltration,glandular density scores,and decreased serum levels of cholecystokinin(CCK),motilin(MTL),gastrin(GAS),interleukin-6(IL-6),tumor necrosis factor-α(TNF-α),nuclear factor-κB(NF-κB),and malondialdehyde(MDA)compared to baseline,with greater reductions observed in the combined group(P<0.05).Additionally,serum levels of calcitonin gene-related peptide(CGRP),trefoil factor 1(TFF1),epidermal growth factor(EGF),epidermal growth factor receptor(EGFR),and superoxide dismutase(SOD),as well as quality-of-life scores across multiple domains,were significantly increased from baseline in both groups,with the combined group showing superior improvements(P<0.05).During the treatment period,the incidence of adverse reactions was 11.32%in the combined group and 5.66%in the Western medicine group,with no statistically significant difference between the two groups(P>0.05).Conclusion Modified Lizhong Decoction demonstrated a definite therapeutic effect on GDU of the spleen and stomach cold deficiency type,effectively improving gastric mucosal morphology,enhancing gastric function,suppressing inflammatory responses and oxidative stress,promoting the secretion of mucosal repair-related factors,improving patients'quality of life,and exhibiting favorable safety.

Objective:To explore the value of deep learning models based on ultrafast dynamic contrast-enhanced MRI (UF-DCE MRI) in predicting malignant breast lesions.Methods:The study was a cross-sectional study. Clinical and imaging data of 347 patients with breast lesions who received treatment at Tianjin Medical University Cancer Institute and Hospital from March 2023 to January 2024 were analyzed retrospectively. A total of 347 lesions were observed in the 347 patients, including 75 benign and 272 malignant lesions. The random number method was used to divide into the training set with 243 cases and the validation set with 104 cases in a ratio of 7∶3. All patients underwent breast UF-DCE MRI and conventional dynamic-enhanced MRI (DCE-MRI). A 27-channel model (27-phase enhancement images of input UF-DCE MRI), a 3-channel model (3-phase enhancement images of input DCE-MRI), and a 1-channel model (1st-phase enhancement images of DCE-MRI) were built based on the pre-trained ResNet18 deep learning model on ImageNet. The efficacy of each model in predicting breast malignant lesions was analyzed using receiver operating characteristic curves and area under the curve (AUC). The differences of AUC were compared using DeLong test.Results:In the training and validation sets, the 27-channel model had the highest AUC for diagnosing malignant breast lesions, which were 0.848 (95% CI 0.818-0.877) and 0.784 (95% CI 0.752-0.817), respectively. DeLong test showed no statistically significant difference in the AUC values of the three models in the validation set for the diagnosis of malignant lesions of the breast in a two-by-two comparison ( P>0.05). UF-DCE MRI scans were 27 phases totaling 81 s with a temporal resolution of 3 s/phase; DCE-MRI scans were 3 phases totaling 270 s with a temporal resolution of 90 s/phase. Conclusions:The model combining UF-DCE MRI with deep learning demonstrates comparable efficacy to DCE-MRI deep learning model in diagnosing breast malignant lesions. However the UF-DCE MRI has the advantages of high temporal resolution and short scanning time, which makes this model valuable for precise diagnosis and treatment of breast cancer.

Objective:To explore the impact of health education based on individualized situation, background, assessment and recommendation (SBAR) communication mode on stress response and family support in patients with coronary artery bypass transplantation (CABG).Methods:This study was a similar experimental study, and 78 surgical patients undergoing coronary artery bypass grafting in the First Affiliated Hospital of Xinjiang Medical University were selected from February to July 2023. Among them, 39 patients admitted from February to April 2023 were in the control group with routine care measures; 39 patients admitted from May to July 2023 were in the observation group. The stress response indicators: the blood glucose (Glu), buffuer excess (BE) and lacid acid (Lac) were measured in both groups when entering the operating room, start and over the cardiopulmonary bypass. Compared the stress response indicators, sleep quality, family support and postoperative complications before and after the treatment between the two groups.Results:In the control group, there were 31 males and 8 females age (57.31 ± 7.56) years old, while in the observation group, there were 33 males and 6 females age (58.36 ± 6.84) years old. Repeated-measures ANOVA showed significant Glu, BE and Lac ( Ftime=76.00, 9.69, 6.19, all P<0.05) and interaction effects ( Finteraction=3.17, 4.43, 4.35, all P<0.05). The sleep quality score and family support score in the observation group were (9.49 ± 2.61) and (10.79 ± 1.26), respectively, in the control group was (10.85 ± 2.61) and (9.38 ± 1.41) respectively, the differences were significant ( t=2.30, -4.66, both P<0.05). The incidence of postoperative complications in the observation group was 12.82% (5/39), which was significant lower than the 38.46%(15/39) in the control group ( χ2= 6.72, P<0.05). Conclusions:The health education of SBAR communication mode is beneficial to reduce the stress response of patients, improve the sleep quality of CABG patients, enhance the sense of gain of family support, and reduce the occurrence of postoperative complications, thus promoting the rehabilitation outcome of patients.

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.

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.

OBJECTIVE To investigate the stability of 5-fluorouracil （5-FU） in human blood and to establish a standardized clinical sampling and delivery procedure for therapeutic drug monitoring （TDM） of 5-FU. METHODS The EDTA-anticoagulated whole blood was used as the matrix to prepare stability assessment samples of 5-FU at both low （200 ng/mL） and high （5 000 ng/mL） concentrations （with groups without stabilizer and with 1% volume ratio of stabilizer）. The stability assessment samples were placed under room temperature （[ 25±2） ℃] and refrigerated （2-8 ℃） conditions， with sampling at 0， 0.5， 1， 2， 4， 7， and 24 h. After vortexing and centrifugation， the upper plasma layer was collected； proteins were precipitated using methanol， and the concentration of 5-FU in plasma was determined by liquid chromatography-tandem mass spectrometry. Based on the whole blood stability results， clinical sampling and delivery procedures were established. RESULTS The concentration of 5-FU in blank whole blood samples without stabilizers was significantly lower than that in samples with stabilizers （P＜0.05）. However， varying volumes （10， 25， 50 μL） of stabilizers had no significant effect on the measured concentrations of 5-FU in stability assessment samples with low and high concentrations （P＞0.05）. Without the addition of a stabilizer， low- and high-concentration 5-FU whole blood samples remained stable at room temperature for 0.5 h and 1 h， respectively， and under refrigeration for 2 h and 7 h， respectively. After the addition of a 1% stabilizer， the whole blood samples remained stable for up to 24 h under both room temperature and refrigerated conditions. Based on these findings， the following procedure was established： after collection， whole blood samples could be temporarily stored at room temperature （≤0.5 h） or at 4　℃ （≤2 h）， and transported at 2-8　℃. Upon delivery to the laboratory， a 1% volume ratio of stabilizer must be added immediately， followed by centrifugation within 24 h. The resulting plasma should be stored at －20 ℃ . CONCLUSIONS 5-FU in whole blood exhibits poor stability at room temperature. Refrigeration at 2-8　℃ slightly improves stability ， but degradation still occurs rapidly. Adding a stabilizer at a 1% volume ratio significantly prolongs the refrigerated storage time. The established sampling and transport procedure for 5-FU TDM innovatively introduces the stabilizer addition step at the laboratory sample reception stage （rather than immediately after blood draw）. This approach ensures analytical quality while offering greater adaptability to real-world clinical sampling conditions， significantly improving practical feasibility.

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 K_m and maximum reaction rate V_max 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* ; Hydrogen-Ion Concentration ; Escherichia coli/metabolism* ; Glycoside Hydrolases/biosynthesis* ; Substrate Specificity ; Enzyme Stability ; Chitosan/metabolism* ; Temperature ; Kinetics ; Cloning, Molecular ; Bacterial Proteins/biosynthesis* ; Recombinant Proteins/genetics*