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 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 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.

Purpose To explore the correlation between spectral CT-derived quantitative parameters and different programmed death-ligand 1(PD-L1)expression status in gastric adenocarcinoma,in order to provide additional imaging-based references for immunotherapy regimen selection in patients with this disease.Materials and Methods A total of 45 patients with gastric adenocarcinoma,pathologically confirmed by biopsy,who underwent PD-L1 testing prior to treatment were retrospectively enrolled from Lanzhou University Second Hospital between January 2021 and September 2023.All patients underwent baseline spectral CT scans.Based on PD-L1 expression status,patients were categorized into the higher combined positive score(CPS)group(CPS≥5)and the lower CPS group(CPS<5).From the single-energy images of arterial and venous phases,the CT values(CT40 keV,CT70 keV),effective atomic number,and iodine concentration of the lesions were measured.The standardized iodine concentration and slope of the spectral curve were calculated.Differences in spectral CT parameters between the two groups were compared.Receiver operating characteristic curves were plotted for parameters with statistically significant differences,and the area under the curve was calculated to evaluate the efficacy of each single parameter and combined parameters in distinguishing PD-L1 expression status.Results In the arterial phase,the CT40 keV,CT70 keV,iodine concentration,standardized iodine concentration,effective atomic number,and slope of the spectral curve of lesions in the higher expression group were all significantly higher than those of lesions in the lower expression group(t/Z=-3.115 to-2.725,all P<0.05),whereas no significant differences were observed in all parameters in the venous phase(all P>0.05).For the standardized iodine concentration in the enhanced arterial phase,the area under the curve for distinguishing PD-L1 expression status was 0.755(95%CI 0.612 to 0.898),with a sensitivity of 81.8%and a specificity of 65.2%.No significant differences were found between it and other single spectral CT parameters in the arterial phase(all P>0.05),and its diagnostic efficacy was similar to that of the combined parameters[the area under the curve was 0.755(95%CI 0.613 to 0.897),sensitivity was 90.9%,specificity was 52.2%].Conclusion Quantitative parameters of spectral CT in the arterial phase can predict the PD-L1 expression of gastric adenocarcinoma,which may provide a reference for the screening and immunotherapy evaluation of patients with gastric adenocarcinoma.

Objective To explore the effect of endoscopic retrograde appendicitis therapy on inflammatory reaction,oxidative stress and immune level in patients with acute appendicitis.Methods 82 patients with acute appendicitis who were treated from January 2020 to September 2023,and divided into control group(41 cases)and treatment group(41 cases).The grouping method was random number table method.The control group was given laparoscopic appendectomy,and the treatment group was given endoscopic retrograde appendicitis therapy.Both groups observed that the patients were discharged from hospital and were followed up for 1 week.The operation-related indexes,levels of inflammatory factors[serum procalcitonin(PCT),soluble intercellular adhesion molecule-1(sICAM-1),lipoxin A4(LXA4),soluble P-selectin(sP-s)and C-reactive protein(CRP)],oxidative stress[serum superoxide dismutase(SOD)and malondialdehyde(MDA)]and immune function[immunoglobulin M(IgM)and immunoglobulin G(IgG)]before and 24 h after operation,score of pain before operation,12 h and 24 h after operation and complications(during the study period)were compared between the two groups.Results Compared with the control group,the amount of bleeding in the treatment group was relatively less,and the time of lying on bed,hospitalization,anal exhaust and body temperature returning to normal after operation were relatively shorter,the differences were statistically significant(P＜0.05).Compared with pre-operation,the levels of serum sICAM-1,LXA4 and sP-s in both groups decreased at 24 h after operation,while the level of serum PCT and CRP increased,the treatment group was significantly lower than the control group(P＜0.05).Compared with pre-operation,the levels of serum SOD,IgM and IgG in the two groups decreased at 24 h after operation,but the levels in the treatment group were relatively higher,while the levels of serum MDA all increased,which was lower in the treatment group(P＜0.05).Compared before operation,the scores of pain in the two groups showed a downward trend from 12 and 24 h after operation,and compared with the control group,the scores of pain in the treatment group were relatively lower(P＜0.05).During the study period,compared with 26.83%in the control group,the total incidence of complications in the treatment group was 7.32%,which was relatively lower(P＜0.05).Conclusion Endoscopic retrograde appendicitis therapy for acute appendicitis can effectively reduce patients'oxidative stress and inflammatory reaction,protect their immune function,shorten patients'postoperative recovery time,relieve their pain and reduce the incidence of postoperative complications.

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 evaluate the effects of a reduced-positioning restrictions nursing program on postoperative recovery, sleep quality, self-care ability, and hip joint function in patients undergoing total hip arthroplasty (THA), providing a reference for postoperative positioning management.Methods:A randomized controlled trial was conducted, and 140 THA patients admitted to Zhejiang Provincial People′s Hospital from January 2022 to June 2023 were selected using convenience sampling. They were divided into a control group (70 cases) and an observation group (70 cases) using a random number table. The control group received conventional rehabilitation care, while the observation group received a reduced-positioning restrictions nursing program in addition to the conventional care. The incidence of dislocation at 3 months postoperatively, the activities of daily living, the hip joint function recovery at 1 month and 3 months postoperatively, the sleep quality at 1 month postoperatively were compared between the two groups.Results:Finally 63 cases in the control group and 64 cases in the observation group completed the study. The control group included 25 males and 38 females, with an average age of (65.44 ± 10.97) years, while the observation group included 28 males and 36 females, with an average age of (65.13 ± 12.18) years. At 3 months postoperatively, there was no significant difference in the dislocation rate between the control group and the observation group ( P>0.05). At 1 month and 3 months postoperatively, the scores of activities of daily living in the observation group were (77.89 ± 6.71) and (93.52 ± 6.59) points respectively, which were higher than those in the control group [(69.68 ± 5.53) and (87.38 ± 7.72) points], the differences were statistically significant ( t=5.38, 6.96, both P<0.05), the time, interaction and inter-group effects were all statistically significant ( F=33.93, 10.81, 876.91, all P<0.05). At 1 month postoperatively, the excellent and good rate of hip joint function score grade in the observation group was 73.44% (47/64), which was higher than 41.27% (26/63) in the control group, the difference was statistically significant ( Z=-3.67, P<0.05), there was no statistically significant difference between the two groups at 3 months postoperatively ( P>0.05). At 1 month after the operation, the excellent and good rate of sleep quality score grades in the observation group was 81.25% (52/64), which was higher than 57.14% (36/63) in the control group, and the difference was statistically significant ( Z=-3.00, P<0.05). Conclusions:Incorporating a reduced-positioning restrictions nursing program into the perioperative management of THA does not increase the risk of prosthesis dislocation. This approach enhances patient comfort, improves sleep quality, increases self-care ability, and supports the recovery of hip joint function.

Objective To evaluate the role of dynamic contrast-enhanced magnetic resonance imaging(DCE-MRI)in the diagnosis of axillary lymph node metastasis(ALNM)in breast cancer patients with low HER-2 expression.Methods A total of 297 breast cancer patients with low HER-2 expression treated at the Affiliated Hospital of Xuzhou Medical University were enrolled and divided into ALNM group(n=71)and non-ALNM group(n=226)according to whether there was ALNM.All patients underwent DCE-MRI,and DCE-MRI derived parameters were collected and analyzed.Logistic regression analysis was used to identify the risk factors for ALNM,and the efficacy of DCE-MRI in diagnosing ALNM was assessed using receiver operating characteristic curve.Results Significant differences were observed between two groups in lesion distribution,TNM staging,vascular invasion,and most DCE-MRI derived parameters including short-to-long axis ratio,Ve,Ktrans,Kep,ADC and SER(all P<0.05).Multivariate regression analysis revealed that the short-to-long axis ratio,Ve,Ktrans,Kep,ADC and SER were significant risk factors for ALNM in breast cancer patients.Comparative analysis demonstrated that the combination of DCE-MRI derived parameters yielded a maximum area under the curve of 0.976,with a sensitivity of 91.5%and a specificity of 92.9%.Conclusion DCE-MRI is an effective tool for determining the presence of ALNM in breast cancer patients with low HER-2 expression,providing significant diagnostic evidence for clinical practice.

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.