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

This paper reviewed the development history of doctor-patient shared decision-making （SDM） at home and abroad， emphasizing the importance of cross-cultural analysis in constructing a Chinese doctor-patient SDM model. It also delved into the relationship between Western “individualistic” sociocultural values and doctor-patient SDM， as well as the influence of China’s “collectivist” sociocultural values on doctor-patient SDM， revealing significant disparities in doctor-patient SDM models under distinct sociocultural contexts. Although the doctor-patient SDM theory in China originated from the West， this theory requires profound “collision” and adaptation with local Chinese culture to form a localized theory suited to China’s national conditions. Through cross-cultural adaptation and integrating China’s familism tradition and medical ethics concepts， the future construction of the doctor-patient SDM model in China should emphasize family members’ involvement and seek cultural balance to facilitate its widespread application in clinical practice.

Abstract The prevention and control of myopia in Chinese children and adolescents has become a major public health issue. While maintaining increased outdoor activity as a cornerstone intervention, there is an urgent need to explore new complementary approaches that can be effectively implemented in both indoor and outdoor settings. In recent years, environmental spatial frequency has gained increasing attention as one of the key environmental factors influencing the development and progression of myopia. Both animal studies and human research have confirmed that indoor environments lacking mid to high spatial frequency components, often characterized as "visually impoverished", can promote axial elongation and myopia through mechanisms such as disruption of retinal neural signaling, impaired accommodative function, and altered expression of related molecules. Based on the scientific consensus, it is recommended that "enriching of environmental spatial frequency" should be integrated into the myopia prevention and control framework. Following the principles of schoolled organization, family cooperation, community involvement, and student participation, specific measures are put forward in three areas：optimizing school visual settings, improving home spatial environments, and promoting healthy visual behavior. The aim is to create "visually friendly" indoor environments as an important supplement to outdoor activity, thereby providing a novel perspective and strategy for comprehensively advancing myopia prevention and control among children and adolescents.

Objective:To investigate the serum level of soluble vascular cell adhesion molecule-1 (sVCAM-1) in patients with multiple myeloma (MM) and its effect on the therapeutic effect of daletumab.Methods:A total of 126 MM patients admitted to the Affiliated Hospital of Jining Medical College from June 2019 to June 2021 were retrospectively selected as the observation group, and 120 healthy subjects in the same period were selected as the control group. The observation group was treated with daletumab. The level of sVCAM-1 in the observation group and the control group was compared, and the relationship between serum sVCAM-1 level and clinicopathological features, different Durie-Salmon (DS) stages, different International Staging System(ISS) stages and treatment outcome of MM patients were analyzed.Results:The serum level of sVCAM-1 in the observation group was higher than that in the control group: (797.69 ± 119.73) μg/L vs. (210.55 ± 73.77) μg/L, there was statistical difference ( P<0.01). There were no statistical differences in serum sVCAM-1 level among MM patients with different sex, body mass index, blood calcium, serum albumin, hemoglobin, lactate dehydrogenase and diagnostic type ( P>0.05). The serum level of sVCAM-1 in MM patients DS stage Ⅰ, Ⅱ and Ⅲ were (649.29 ± 101.02), (694.36 ± 109.88) and (729.66 ± 120.44) μg/L, there was statistical difference ( F = 5.12, P<0.01). The serum level of sVCAM-1 in MM patients with ISS stage Ⅰ, Ⅱ and Ⅲ were (648.73 ± 99.77), (701.05 ± 107.83) and (765.82 ± 111.07) μg/L, there was statistical difference ( F = 11.46, P<0.01). After treatment, the serum level of sVCAM-1 in MM patients with complete remission, partial remission and relapse were (234.05 ± 90.73), (445.36 ± 97.11) and (793.05 ± 121.03) μg/L, there was statistical difference ( F = 245.15, P<0.01). The results of receiver operating characteristic (ROC) curve analysis showed that when the cut-off value of serum sVCAM-1 level was 58.50 μg/L, the area under the curve (AUC) was 0.762 (95% CI 0.699 - 0.825, P<0.01), the sensitivity was 80.95%, the specificity was 67.50%, and the accuracy was 74.39%. Conclusions:The level of serum sVCAM-1 in MM patients is significantly increased, and the higher the level of SVCAM-1, the worse the prognosis of patients, which can be used as one of the indicator to predict the therapeutic effect of MM patients.

Objective:To investigate the value of human epididymal protein 4(HE4)combined with two-dimensional(2D)ultrasound for vagina in diagnosing the pathological classification of ovarian cancer and predicting its prognosis.Methods:The clinical data of a total of 100 patients with ovarian cancer who admitted to Hengshui Maternal and Child Health Care Hospital and Hengshui People's Hospital from April 2018 to July 2023 were retrospectively analyzed,including 98 cases with epithelial ovarian cancer and 2 cases with non-epithelial ovarian cancer.The fasting venous blood pre operation of patients was extracted in morning.The serum HE4 level was detected by enzyme-linked immunosorbent assay(ELISA).The 2D ultrasound examination was performed one week before surgery to measure the resistance index(RI),pulse index(PI),peak systolic flow velocity(PSV)and end-diastolic flow velocity(EDV)of ovarian artery.All patients were followed up immediately after they completed the last chemotherapy.All of patients were divided into a death group(n=27)and a survival group(n=73)according to their survival situation.Cox regression risk model was used to analyze prognostic influence factors of patients with ovarian cancer.Results:The serum HE4 level[449.37(28.57,2 382.24)]pmol/L in patients with epithelial ovarian cancer was significantly higher than that[55.38(17.33,79.64)]pmol/L in patients with non-epithelial ovarian cancer(U=24.752,P＜0.05).The RI,PSV and PI of ultrasonic parameters of patients with epithelial ovarian cancer were higher than those of patients with non-epithelial ovarian cancer(t=3.640,2.152,2.588,P＜0.05),respectively.The area under curve(AUC)of the receiver operating characteristic(ROC)curve of HE4 combined with 2D ultrasound for vagina was 0.936(95%CI:0.821-1.000)in identifying epithelial and non-epithelial ovarian cancer,which was larger than that of alone each examination.The ratio of the age≥60 years old,the ratio of the III-IV staging of Federation International of Gynecology and Obstetrics(FIGO),and the ratio of existing surrounding infiltration in the death group were all higher than those in the survival group,and the serum HE4 level[528.75(34.79,1 932.43)]pmol/L was higher than that[138.23(21.49,872.59)]pmol/L of the survival group,and the difference was significant(U=25.963,P＜0.05).The PSV and EDV values of the death group were all larger than those of the survival group(t=10.844,17.744,P＜0.05),and the RI and PI were all less than those of the survival group(t=19.085,13.099,P＜0.05).FIGO Ⅲ-Ⅳ staging,surrounding infiltration,HE4 level≥398.74 pmol/L,RI＜0.31,PI＜0.54,PSV≥26.12 cm/s,EDV≥16.47 cm/s were all risk factors for the prognosis of patients with ovarian cancer(HR=2.682,2.347,2.296,2.518,2.235,2.124,1.958,P＜0.05).Conclusion:HE4 combined with 2D ultrasound for vagina can improve the diagnostic accuracy of pathological classification for ovarian cancer,and can be used as an important tool to predict the prognosis of patients with ovarian cancer.

Objective To explore the value of multi-parameter MRI in predicting the Ki-67 expression level in nasopharyngeal carcinoma(NPC).Methods The clinical and MRI data of 63 patients with pathologically confirmed NPC were prospectively collected.All patients underwent routine plain and enhanced nasopharyngeal MRI,diffusion weighted imaging(DWI),and arterial spin labeling(ASL)scans before treatment.Multivariate logistic regression analysis was used to identify the independent risk factors for the Ki-67 expression level.Results The degree of enhancement,the maximum blood flow(BFmax),and the minimum apparent diffusion coefficient(ADCmin)were independent risk factors for the Ki-67 expression level in NPC patients.The area under the curve(AUC)of the prediction model established based on these three factors was 0.920,with a sensitivity of 0.792 and a specificity of 0.897,respectively.Conclusion Multi-parameter MRI based on conventional enhancement,ASL,and DWI can effectively predict the Ki-67 expression level in NPC patients.

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 protective effect of Schistosoma japonicum cystatin(rSj-Cystatin)in a mouse mode of"two-hit"sepsis.Methods Sixty male C57BL/6 mice randomized equally into sham-operated group,protein group,"two-hit"modeling group,and protein intervention group.In the former two groups,the mice received an intraperitoneal injection of 100 μL PBS followed by exposure of the cecum and then by intraperitoneal injection of 100 μL PBS or 25 μg rSj-Cystatin 30 min later;In the latter two groups,100 μL PBS containing LPS(5 mg/kg)was injected intraperitoneally 24 h before cecal ligation and puncture(CLP),and 100 μL PBS or 25 μg rSj-Cystatin were injected 30 min after CLP.At 12 h after rSj-Cystatin treatment,6 mice from each group were sacrificed for detection of TNF-α,IL-6,IL-10,TGF-β,iNOS and Arg-1 in the serum,spleen,liver,lung and kidney tissues using ELISA,for examinations of liver,lung and kidney pathologies with HE staining,and for analysis of CD3+CD4+CD25+Foxp3+T cell percentage in the spleen using flow cytometry.The remaining mice were observed for general condition and 72-h survival.Results The 72-h survival rates in the 4 groups were 100％,100％,0％and 20％,respectively,showing significant differences between the latter two groups.The mouse models of"two-hit"sepsis exhibited obvious tissue pathologies and significant elevations of TNF-α and IL-6 in both the serum and tissue homogenate,which were significantly ameliorated by rSj-Cystatin treatment.Treatment with rSj-Cystatin also increased IL-10 and TGF-β levels and spleen CD3+CD4+CD25+Foxp3+T cell percentage.The septic mouse models also showed increased iNOS levels in all the detected tissues and a decreased Arg-1 level in the kidney,and these changes were obviously improved by rSj-Cystatin treatment.Conclusion rSj-Cystatin has a protective effect against"two-hit"sepsis in mice by regulating the inflammatory microenvironment.

Objective:To investigate the value of human epididymal protein 4(HE4)combined with two-dimensional(2D)ultrasound for vagina in diagnosing the pathological classification of ovarian cancer and predicting its prognosis.Methods:The clinical data of a total of 100 patients with ovarian cancer who admitted to Hengshui Maternal and Child Health Care Hospital and Hengshui People's Hospital from April 2018 to July 2023 were retrospectively analyzed,including 98 cases with epithelial ovarian cancer and 2 cases with non-epithelial ovarian cancer.The fasting venous blood pre operation of patients was extracted in morning.The serum HE4 level was detected by enzyme-linked immunosorbent assay(ELISA).The 2D ultrasound examination was performed one week before surgery to measure the resistance index(RI),pulse index(PI),peak systolic flow velocity(PSV)and end-diastolic flow velocity(EDV)of ovarian artery.All patients were followed up immediately after they completed the last chemotherapy.All of patients were divided into a death group(n=27)and a survival group(n=73)according to their survival situation.Cox regression risk model was used to analyze prognostic influence factors of patients with ovarian cancer.Results:The serum HE4 level[449.37(28.57,2 382.24)]pmol/L in patients with epithelial ovarian cancer was significantly higher than that[55.38(17.33,79.64)]pmol/L in patients with non-epithelial ovarian cancer(U=24.752,P＜0.05).The RI,PSV and PI of ultrasonic parameters of patients with epithelial ovarian cancer were higher than those of patients with non-epithelial ovarian cancer(t=3.640,2.152,2.588,P＜0.05),respectively.The area under curve(AUC)of the receiver operating characteristic(ROC)curve of HE4 combined with 2D ultrasound for vagina was 0.936(95%CI:0.821-1.000)in identifying epithelial and non-epithelial ovarian cancer,which was larger than that of alone each examination.The ratio of the age≥60 years old,the ratio of the III-IV staging of Federation International of Gynecology and Obstetrics(FIGO),and the ratio of existing surrounding infiltration in the death group were all higher than those in the survival group,and the serum HE4 level[528.75(34.79,1 932.43)]pmol/L was higher than that[138.23(21.49,872.59)]pmol/L of the survival group,and the difference was significant(U=25.963,P＜0.05).The PSV and EDV values of the death group were all larger than those of the survival group(t=10.844,17.744,P＜0.05),and the RI and PI were all less than those of the survival group(t=19.085,13.099,P＜0.05).FIGO Ⅲ-Ⅳ staging,surrounding infiltration,HE4 level≥398.74 pmol/L,RI＜0.31,PI＜0.54,PSV≥26.12 cm/s,EDV≥16.47 cm/s were all risk factors for the prognosis of patients with ovarian cancer(HR=2.682,2.347,2.296,2.518,2.235,2.124,1.958,P＜0.05).Conclusion:HE4 combined with 2D ultrasound for vagina can improve the diagnostic accuracy of pathological classification for ovarian cancer,and can be used as an important tool to predict the prognosis of patients with ovarian cancer.