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 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.

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.

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 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.

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.

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 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 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.