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

ObjectiveTo establish a highly specific and sensitive triplex TaqMan quantitative PCR method for the detection of mouse hepatitis virus (MHV), mouse parvovirus (MPV), and reovirus type 3 (Reo-3) in laboratory mice. MethodsRecombinant plasmid standards were constructed using conserved genomic regions of the three target viruses. Specific primers and probes were designed, and a triplex TaqMan quantitative PCR (qPCR) system was optimized through preliminary experiments. Sensitivity was evaluated using 10-fold serial dilutions (10¹-10⁷ copies/μL). Intra- and inter-assay repeatability were assessed via reproducibility experiments. ResultsA strong linear correlation (R ²>0.99) was observed between copy number and Ct value at template concentrations of 10²-10⁷ copies/μL. Intra-assay and inter-assay coefficients of variation (CV) were both below 5%. No cross-reactivity was observed with mouse cytomegalovirus (MCMV), vesicular stomatitis virus (VSV), Sendai virus (SeV), or pneumonia virus of mice (PVM). ConclusionThe triplex TaqMan quantitative PCR method established in this study has high sensitivity, good repeatability, and strong specificity. It enables the rapid, specific, and sensitive detection of MHV, MPV, and Reo-3, allows the simultaneous detection of multiple pathogens in a single tube, and can be applied to the detection of clinical samples from laboratory animals and to epidemiological investigations, thereby providing effective scientific and technological support for the prevention and control of viral infection and the interruption of transmission.

Getah virus(GETV)is an arbovirus capable of infecting humans and vertebrates such as horses and pigs via blood-sucking mosquitoes,which is extremely harmful to the livestock indus-try.Current monitoring methods are time-consuming,costly,and dependent on specialized instru-ments.These characteristics hinder rapid detection in clinical samples.Therefore,the development of a simple,rapid,specific,and sensitive method for detecting GETV antigen is crucial for the pre-vention and control of GETV.In this study,a GETV E1 monoclonal antibody strain SD17/09-E1-mAb was prepared by a prokaryotic expression system for GETV E1 protein expression,and a col-loidal gold double-antibody sandwich assay encapsulating two strains of GETV E1 monoclonal an-tibody wasestablished.The results showed that the prepared colloidal gold test strips had good sen-sitivity and did not cross-react with other common porcine virus-positive tissue samples;the test strips had a high compliance rate with the IFA assay for GETV,and could be stored at 37 ℃ for one month and at room temperature for at least three months.In this study,a colloidal gold anti-surveillance test strip for rapid detection of GETV was successfully prepared,which provides a powerful tool for GETV detection.

Objective:To compare the clinical efficacy of percutaneous endoscopic interlaminar discectomy (PEID) and posterior small incision microdiscectomy (MD) in the treatment of recurrent lumbar disc herniation.Methods:A retrospective analysis was conducted on the data of 132 patients who underwent revision surgery for recurrent lumbar disc herniation at the same segment at Qilu Hospital of Shandong University between July 2012 and August 2022. The patients were treated with either PEID or MD. The PEID group consisted of 90 patients, including 51 males and 39 females, with a mean age of 42.7±11.3 years and a mean body mass index (BMI) of 23.7±3.4 kg/m 2. The surgical segments were L 4-5 in 38 cases and L 5S 1 in 52 cases. The primary surgeries included open discectomy in 7 cases, laminectomy with bone graft in 3 cases, MD in 35 cases, and PEID in 45 cases. The MD group consisted of 42 patients, including 30 males and 12 females, with a mean age of 41.2±12.6 years and a mean BMI of 24.3±4.7 kg/m 2. The surgical segments were L 4-5 in 19 cases and L 5S 1 in 23 cases. The primary surgeries included open discectomy in 2 cases, laminectomy with bone graft in 1 case, MD in 17 cases, and PEID in 22 cases. The visual analogue scale (VAS) scores for low back pain and leg pain, Oswestry disability index (ODI), immediate postoperative VAS score for surgical wound pain, intraoperative blood loss, surgical wound length, operation duration, length of hospital stay, and various complications before and after surgery were compared between the PEID and MD groups. Results:The operation duration in the PEID group was 81.7±11.3 min, that in the MD group was 85.2±9.5 min, but the difference was not statistically significant ( t=1.740, P=0.081). The intraoperative blood loss in the PEID group was 4.4±2.9 ml, the surgical wound length was 0.9±0.2 cm, and the length of hospital stay was 3.1±1.3 d, all significantly less than those in the MD group (26.6±10.3 ml, 3.4±1.1 cm, and 8.7±1.6 d, respectively), with statistically significant differences ( P<0.05). Both groups were followed up, with a mean follow-up duration of 24.4±5.5 months in the PEID group and 24.5±4.9 months in the MD group, and there was no statistically significant difference between the two groups ( t=0.101, P=0.920). Both the PEID and MD groups showed significant improvements in postoperative VAS scores for leg pain, VAS scores for low back pain, and ODI compared with preoperative values ( P<0.05). Additionally, the VAS score for surgical wound pain on the first postoperative day in the PEID group was 1.2±0.4, which was lower than that in the MD group (2.9±0.6), with a statistically significant difference ( t=19.261, P<0.001). The incidence rates of muscle weakness, postoperative sensory abnormalities, and dural tears in the PEID group were 12%(11/90), 27%(24/90), and 6%(5/90), respectively, significantly lower than those in the MD group [31%(13/42), 40%(17/42), and 33%(14/42), respectively], with statistically significant differences ( P<0.05). However, there were no statistically significant differences between the two groups in the incidence rates of recurrence, residual nucleus pulposus, spinal cord-like hypertension syndrome, subcutaneous wound infection, or intervertebral space infection ( P>0.05). No patients in either group developed retroperitoneal hematoma postoperatively. Conclusion:For patients with recurrent lumbar disc herniation after primary posterior surgery, PEID demonstrates equally excellent clinical efficacy compared with MD, with smaller surgical trauma and a lower incidence of complications.

Objective:To investigate the feasibility, safety, and short-term efficacy of the application of near-infrared fluorescence imaging of tharacic duct(NFITD) by indocyanine green(ICG) in minimally invasive McKeown esophagectomy(MIME).Methods:The clinical data of the patients underwent MIME for esophageal cancer in the First Affiliated Hospital of University of Science and Technology of China From January 2024 to April 2024 were restrospectively analyzed. There were divided into a indocyanine green imaging of thoracic duct(ITD) group and a non indocyanine green imaging of thoracic duct(NITD) group according to intraoperative visualization of morphological patterns of the thoracic duct. The clinicopathologic factors, preoperative adjuvant therapy, surgery-related indicators, postoperative complications were compared between the two groups.Results:In the comparison of general data between the two groups of patients, there were differences in preoperative neoadjuvant therapy between the ITD group and the NITD group. However, there were no significant differences between the two groups in terms of age, gender, tumor segmentation, degree of differentiation, smoking history, drinking history, and preoperative comorbidities. In the perioperative data, the ITD group had advantages in total pleural effusion volume on the third day after surgery, total hospitalization cost, and intraoperative discovery of thoracic duct injury( P<0.05). In terms of the number of metastatic lymph nodes, the ITD group was higher than the NITD group( P<0.05). There were no significant differences between the two groups in terms of operation time, postoperative hospital stay, total pleural effusion volume on the 1st and 2nd days after operation, whether the thoracic duct was ligated, whether there was thoracic adhesion, pTNM stage, the number of lymph node dissection stations and the number of lymph node dissections. In terms of the minor complications of chylothorax after surgery, the ITD group was significantly less than the NITD group. There was no significant difference in other complications between the two groups of patients. Conclusion:NFITD combined with MIME can be safety and effectively performed for patients with esophageal cancer with significant advantages in reducing postoperative chylothorax.

Objective To compare the success rate and stability of rat models of comorbid chronic pain and depression induced by different doses of complete Freund's adjuvant(CFA).Methods Sixty SD rats were divided randomly into a control group,low-dose CFA group(CFA-L),and high-dose CFA group(CFA-H)(n=20 rats per group).Rats in the CFA-L and CFA-H groups were injected with 50 and 100 μL CFA,respectively,and rats in the control group were injected with 0.9％sodium chloride solution.The general state,body weight,mechanical withdrawal threshold(MWT),and thermal withdrawal latency(TWL)were observed at 0,7,14,21,and 28 days after modeling.Depressive behavior was evaluated using the open field test(OFT),forced swim test(FST),and tail suspension test(TST).Glutamate(Glu)and γ-aminobutyric acid(GABA)levels in the anterior cingulate cortex were detected by enzyme-linked immunosorbent assay.Brain-derived neurotrophic factor(BDNF)expression in the anterior cingulate cortex was detected by immunohistochemistry,and pathological changes in the anterior cingulate cortex were observed by HE staining.Results(1)Regarding the general condition of the rats,the left ankle joint and toes were obviously red and swollen in the CFA-L and CFA-H groups on the 7th day after modeling,and the swelling was more severe in the CFA-H group.The redness and swelling of the left hind foot and ankle joint and toes gradually recovered in the CFA-L group on days 14,21,and 28 after modeling,but were still obvious in the CFA-H group,and the water and food intake decreased.(2)The body mass was significantly lower in rats in the CFA-H group compared with those in the blank and CFA-L groups on days 14,21,and 28 after modeling(P＜0.05,P＜0.05).(3)Regarding pain-related behavior,the MWT and TWL were significantly decreased in the CFA-L and CFA-H groups on the 7th and 14th days after modeling,compared with the control group(P＜0.05,P＜0.05).On day 21 after modeling,MWT was significantly lower in the CFA-H group than in the blank and CFA-L groups(P＜0.05,P＜0.05),and TWL was significantly lower in the CFA-L and CFA-H groups than in the blank group(P＜0.05,P＜0.05).On day 28 after modeling,MWT and TWL were significantly lower in the CFA-H group than in the blank and CFA-L groups(P＜0.05,P＜0.05).(4)In terms of depression-related behaviors,the total OFT movement distance was significantly lower in the CFA-H group than in the blank and CFA-L groups on day 7 after modeling(P＜0.05,P＜0.05).The total OFT distance and central dwell time were significantly lower in the CFA-H group than in the blank and CFA-L groups on days 14,21,and 28 after modeling(P＜0.05,P＜0.05),and the result in the FST and TST were significantly higher than in the blank and CFA-L groups(P＜0.05,P＜0.05).(5)Glu,GABA,and BDNF expression levels were significantly higher in the CFA-H group than in the blank and CFA-L groups(P＜0.05,P＜0.05),while GABA,Glu/GABA,and BDNF levels were significantly lower in the CFA-H group than in the blank and CFA-L groups(P＜0.05,P＜0.05,P＜0.05).(6)The CFA-L group showed less damage in the anterior cingulate cortex,more pyramidal cells,more arranged cells,clear nucleoli,and a small number of cells with karyokynesis and deep staining.Compared with the CFA-L group,rats in the CFA-H group showed a disordered cell arrangement in the injured area of the anterior cingulate cortex,a large number of pyknotic and hyperchromatic neurons,significantly fewer or absent pyramidal cells,and vacuoles,red blood cells,and neurofibrillary tangles in the interstitial space.Conclusions Injection of CFA 100 μL can be used to establish a rat model of chronic inflammatory pain and depression,showing hyperalgesia,depression-like behavioral changes,changes in levels of Glu,GABA,and BDNF in the anterior cingulate cortex,and pathological changes in the anterior cingulate cortex,consistent with the pathophysiological characteristics of chronic pain and depression.

Getah virus(GETV)is an arbovirus capable of infecting humans and vertebrates such as horses and pigs via blood-sucking mosquitoes,which is extremely harmful to the livestock indus-try.Current monitoring methods are time-consuming,costly,and dependent on specialized instru-ments.These characteristics hinder rapid detection in clinical samples.Therefore,the development of a simple,rapid,specific,and sensitive method for detecting GETV antigen is crucial for the pre-vention and control of GETV.In this study,a GETV E1 monoclonal antibody strain SD17/09-E1-mAb was prepared by a prokaryotic expression system for GETV E1 protein expression,and a col-loidal gold double-antibody sandwich assay encapsulating two strains of GETV E1 monoclonal an-tibody wasestablished.The results showed that the prepared colloidal gold test strips had good sen-sitivity and did not cross-react with other common porcine virus-positive tissue samples;the test strips had a high compliance rate with the IFA assay for GETV,and could be stored at 37 ℃ for one month and at room temperature for at least three months.In this study,a colloidal gold anti-surveillance test strip for rapid detection of GETV was successfully prepared,which provides a powerful tool for GETV detection.

Objective To investigate the association of Chinese visceral adiposity index(CVAI)and high-sensitivity C-reactive protein(hs-CRP)with the risk of digestive malignancies in the Kailuan study population,and to provide a basis for the prevention and control of digestive malignancies in the population.Methods A prospective cohort study was conducted,and a total of 94 377 Kailuan workers who participated in the 2006 health examination,had no history of cancer,and had complete data on CVAI,CRP,and related covariates were selected as the observation cohort.According to the levels of CVAI and CRP,the subjects were divided into low CVAI+CRP≤3 mg/L group[CVAI(-)CRP(-)group],low CVAI+CRP>3 mg/L group[CVAI(-)CRP(+)group],high CVAI+CRP≤3 mg/L group[CVAI(+)CRP(-)group],and high CVAI+CRP>3 mg/L group[CVAI(+)CRP(+)group].An analysis of variance was used for comparison of normally distributed continuous data between groups,and the non-parametric Kruskal-Wallis H test was used for comparison of continuous data with skewed distribution between groups;the chi-square test was used for comparison of categorical data between groups.The Cox proportional-hazards regression model was used to assess the impact of CVAI and CRP alone or in combination on the risk of digestive malignancies.Results There were significant differences between the four groups in age,male/female ratio,total cholesterol,triglycerides,high-density lipoprotein cholesterol,systolic blood pressure,diastolic blood pressure,fasting blood glucose,high-sensitivity C-reactive protein,waist circumference,body mass index,marital status,alcohol consumption,smoking,reported income,and physical exercise(all P<0.05).During a mean follow-up time of 14.08±2.76 years,2 043 new-onset cases of digestive malignancies were identified by the end of follow-up on December 31,2021.The Cox proportional-hazards regression model showed that after adjustment for CRP and other factors,compared with the low CVAI group,the high CVAI group had a hazard ratio(HR)of 1.34(95%confidence interval[CI]:1.23-1.47)for the risk of digestive malignancies.After adjustment for CVAI and other factors,compared with the CRP≤3 mg/L group,the CRP>3 mg/L group had an HR of 1.14(95%CI:1.02-1.28)for the risk of digestive malignancies.Compared with the CVAI(-)CRP(-)group(n=40 978),the CVAI(-)CRP(+)group(n=6 210),the CVAI(+)CRP(-)group(n=36 502),and the CVAI(+)CRP(+)group(n=10 687)had an HR of 1.05(95%CI:1.01-1.09,P<0.05),1.32(95%CI:1.20-1.45,P<0.05),and 1.48(95%CI:1.28-1.70,P<0.05),respectively,for the risk of digestive malignancies.As for digestive malignancies at specific locations,the CVAI(+)CRP(+)group had an increased risk of liver cancer,gastric cancer,pancreatic cancer,colorectal cancer,and small intestinal cancer with an HR of 1.35(95%CI:1.05-1.81,P<0.05),1.48(95%CI:1.09-2.00,P<0.05),1.60(95%CI:1.07-2.41,P<0.05),1.76(1.40-2.21,P<0.05),and 3.85(95%CI:1.43-10.33,P<0.05),respectively.Conclusion A high level of CVAI,a high level of CRP,and high levels of CVAI and CRP in combination can all increase the risk of digestive malignancies,among which the high levels of CVAI and CRP in combination may lead to a higher risk.

Objective:To compare the clinical efficacy of percutaneous endoscopic interlaminar discectomy (PEID) and posterior small incision microdiscectomy (MD) in the treatment of recurrent lumbar disc herniation.Methods:A retrospective analysis was conducted on the data of 132 patients who underwent revision surgery for recurrent lumbar disc herniation at the same segment at Qilu Hospital of Shandong University between July 2012 and August 2022. The patients were treated with either PEID or MD. The PEID group consisted of 90 patients, including 51 males and 39 females, with a mean age of 42.7±11.3 years and a mean body mass index (BMI) of 23.7±3.4 kg/m 2. The surgical segments were L 4-5 in 38 cases and L 5S 1 in 52 cases. The primary surgeries included open discectomy in 7 cases, laminectomy with bone graft in 3 cases, MD in 35 cases, and PEID in 45 cases. The MD group consisted of 42 patients, including 30 males and 12 females, with a mean age of 41.2±12.6 years and a mean BMI of 24.3±4.7 kg/m 2. The surgical segments were L 4-5 in 19 cases and L 5S 1 in 23 cases. The primary surgeries included open discectomy in 2 cases, laminectomy with bone graft in 1 case, MD in 17 cases, and PEID in 22 cases. The visual analogue scale (VAS) scores for low back pain and leg pain, Oswestry disability index (ODI), immediate postoperative VAS score for surgical wound pain, intraoperative blood loss, surgical wound length, operation duration, length of hospital stay, and various complications before and after surgery were compared between the PEID and MD groups. Results:The operation duration in the PEID group was 81.7±11.3 min, that in the MD group was 85.2±9.5 min, but the difference was not statistically significant ( t=1.740, P=0.081). The intraoperative blood loss in the PEID group was 4.4±2.9 ml, the surgical wound length was 0.9±0.2 cm, and the length of hospital stay was 3.1±1.3 d, all significantly less than those in the MD group (26.6±10.3 ml, 3.4±1.1 cm, and 8.7±1.6 d, respectively), with statistically significant differences ( P<0.05). Both groups were followed up, with a mean follow-up duration of 24.4±5.5 months in the PEID group and 24.5±4.9 months in the MD group, and there was no statistically significant difference between the two groups ( t=0.101, P=0.920). Both the PEID and MD groups showed significant improvements in postoperative VAS scores for leg pain, VAS scores for low back pain, and ODI compared with preoperative values ( P<0.05). Additionally, the VAS score for surgical wound pain on the first postoperative day in the PEID group was 1.2±0.4, which was lower than that in the MD group (2.9±0.6), with a statistically significant difference ( t=19.261, P<0.001). The incidence rates of muscle weakness, postoperative sensory abnormalities, and dural tears in the PEID group were 12%(11/90), 27%(24/90), and 6%(5/90), respectively, significantly lower than those in the MD group [31%(13/42), 40%(17/42), and 33%(14/42), respectively], with statistically significant differences ( P<0.05). However, there were no statistically significant differences between the two groups in the incidence rates of recurrence, residual nucleus pulposus, spinal cord-like hypertension syndrome, subcutaneous wound infection, or intervertebral space infection ( P>0.05). No patients in either group developed retroperitoneal hematoma postoperatively. Conclusion:For patients with recurrent lumbar disc herniation after primary posterior surgery, PEID demonstrates equally excellent clinical efficacy compared with MD, with smaller surgical trauma and a lower incidence of complications.

Objective:To investigate the diagnostic value of endoscopic ultrasound-guided fine needle aspiration (EUS-FNA) for biopsy-negative esophageal strictures suspected for malignancy.Methods:Patients who underwent EUS-FNA for esophageal strictures with negative endoscopic biopsies in Nanjing Drum Tower Hospital from January 2014 to March 2022 were analyzed retrospectively. The final diagnosis was based on the pathological outcomes of EUS-FNA or surgery, complemented by follow-up data. Diagnostic efficacy and complication rates of EUS-FNA were analyzed.Results:A total of 64 patients were included in this study,with 54 ultimately diagnosed with malignant lesions and 10 with benign lesions. Malignant lesions were diagnosed by EUS-FNA in 50 cases, suspected malignant lesions in 3 cases, and no clear basis for malignancy was observed in 11 cases. The diagnostic accuracy of EUS-FNA was 98.4% (63/64), with the malignant tumor detection rate of 98.1% (53/54). No post-procedure complications such as bleeding, perforation, or infection were observed in any patient.Conclusion:EUS-FNA is safe and effective for the diagnosis of biopsy-negative suspected malignant esophageal stricture with a high malignant lesion detection rate.