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.

Human keratinocyte growth factor-1 (hKGF-1), a member of the fibroblast growth factor (FGF) family, plays crucial roles in organ development, cell proliferation, wound healing, and tissue repair, representing one of the most effective and specific growth factors for skin repair. However, obtaining recombinant hKGF-1 remains challenging due to its universally low expression efficiency in vitro. This study employs the Bombyx mori baculovirus expression system to establish a technological platform that utilizes the economically important insect Bombyx mori as a bioreactor for high-efficiency and low-cost expression and production of recombinant human keratinocyte growth factor 1 (hKGF-1) protein, ultimately achieving high-level expression of hKGF-1 in Bombyx mori ovary cell line (BmN). In this study, we optimized the hKGF-1 sequence based on the codon preference of baculovirus. By fusing hKGF-1 with polyhedrin (highly expressed in this system) and adding extra promoters and enhancers, we significantly improved the expreesion level of hKGF-1 in Bombyx mori cells. The results demonstrated that the aforementioned strategies significantly enhanced the expression level of hKGF-1 in Bombyx mori cells. SDS-PAGE and Western blotting results revealed that the highest hKGF-1 expression (accounting for 8.7% of total cellular protein) was achieved when the Polh promoter was combined in tandem with the P6.9 promoter and hKGF-1 was fused with a 15-residue polyhedrin fragment for co-expression. The optimal harvest time was determined to be 120 h post transfection. This study achieved the efficient expression of hKGF-1 in Bombyx mori cells, establishing an ideal technological platform for the industrial utilization of recombinant hKGF-1. The developed methodology not only provides valuable technical references for the production of other growth factors and complex proteins, but also demonstrates significant implications for employing silkworms as bioreactors for recombinant human protein expression.
Bombyx/metabolism* ; Animals ; Baculoviridae/metabolism* ; Humans ; Fibroblast Growth Factor 7/biosynthesis* ; Recombinant Proteins/genetics* ; Cell Line ; Genetic Vectors/genetics*

Vertebral refracture following percutaneous vertebral augmentation (PVA) is commonly seen in elderly patients with osteoporotic thoracolumbar compression fractures (OTLCF). It can lead to recurrent pain, loss of vertebral height, progression of kyphosis, and even neurological dysfunction, significantly impairing patients′ quality of life. Current diagnosis and treatment face multiple challenges, including high misdiagnosis rate, difficulty in choosing between surgical and non-surgical treatment options, lack of standardized surgical protocols, interference from intralesional bone cement during procedures, inadequate stability of internal fixation in osteoporotic bone, and suboptimal compliance of anti-osteoporotic therapy. Establishing a standardized diagnostic and therapeutic framework is urgently needed. To standardize the management process and improve outcomes for vertebral refractures after PVA in elderly OTLCF patients, Spinal Trauma Group of the Orthopedic Branch of Chinese Medical Doctor Association organized experts in the field to develop Guideline for the diagnosis and treatment of vertebral refracture after percutaneous vertebral augmentation in elderly patients with osteoporotic thoracolumbar compression fractures ( version 2025), based on current literature and clinical experience, and adhering to principles of scientific rigor and clinical applicability. A total of 11 recommendations were proposed, encompassing diagnosis, treatment, and rehabilitation of vertebral refracture after PVA in elderly patients with OTLCF, aiming to provide a foundation for a standardized management.

Parkinson disease is a widespread progressive neurodegenerative disease. Clinical diagnostic methods are not sufficient to provide an early and accurate diagnosis before a significant loss of dopaminergic neurons. Molecular imaging techniques can be used for early diagnosis of Parkinson disease through a variety of imaging agents. In this paper, the research progress of molecular imaging in the diagnosis of Parkinson disease is reviewed from the aspects of imaging agents and imaging methods.

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 whether there is a synergistic pathogenic effect between triglyceride glucose index(TyG)and C-reactive protein(CRP)on new-onset nonalcoholic fatty liver disease(NAFLD)by observing the influence of combinations of TyG and CRP at different levels,and to provide a basis for identifying the high-risk population of NAFLD.Methods A total of 31 935 employees in Kailuan Group who participated in physical examination in 2006-2007 were enrolled as the observation cohort,and they had no history of drinking,fatty liver disease,cardiovascular disease,or malignant tumor and did not take antidiabetic or lipid-lowering drugs.According to the median of TyG and CRP at baseline,the subjects were divided into TyG<8.42 and CRP<0.60 mg/L group,TyG<8.42 and CRP≥0.60 mg/L group,TyG≥8.42 and CRP<0.60 mg/L group,and TyG≥8.42 and CRP≥0.60 mg/L group.A one-way analysis of variance was used for comparison of normally distributed continuous data between multiple groups,and an analysis of variance was used for comparison of continuous data with skewed distribution between groups after logarithmic transformation;the chi-square test was used for comparison of categorical data between groups.The Kaplan-Meier method was used to calculate the cumulative incidence rate of NAFLD in different combinations of CRP and TyG levels,and the multivariate Cox regression model was used to investigate the influence of different combinations of TyG and CRP on the incidence rate of NAFLD.Results After a mean follow-up time of 7.59 years,a total of 16 592 employees developed NAFLD.The cumulative incidence rate of NAFLD in the TyG<8.42 and CRP<0.60 mg/L group,TyG<8.42 and CRP≥0.60 mg/L group,TyG≥8.42 and CRP<0.60 mg/L group,and TyG≥8.42 and CRP≥0.60 mg/L group were 59.5%,67.1%,73.8%,and 80.8%,respectively(P<0.001).After adjustment for confounding factors,compared with the TyG<8.42 and CRP<0.60 mg/L group,the TyG≥8.42 and CRP≥0.60 mg/L group had the highest risk of developing NAFLD(hazard ratio[HR]=1.54,95%confidence interval[CI]:1.47-1.61),followed by the TyG≥8.42 and CRP<0.60 mg/L group(HR=1.43,95%CI:1.36-1.49)and the TyG<8.42 and CRP≥0.60 mg/L group(HR=1.17,95%CI:1.12-1.22).Conclusion With elevated TyG and CRP levels,the cumulative incidence of NAFLD increased,and rising levels of these markers significantly augmented the risk of NAFLD development.

Objective To investigate the effect and mechanisms of celecoxib on right heart function in mice with acute high-altitude hypoxia exposure.Methods Male C57BL/6J mice(7 weeks old)were housed in a hypobaric chamber simulating an altitude of 5 800 m for 2 d to establish an animal model of acute hypobaric hypoxia.①Eighteen mice were randomly assigned to plain+saline(P+S),high-altitude hypoxia exposure+saline(H+S),and high-altitude hypoxia exposure+celecoxib(H+Cel).Body weight and routine blood indicators were measured,and cardiac ultrasound examination were performed for heart rate(HR),pulmonary artery acceleration time to ejection time ratio(AT/ET),tricuspid annular plane systolic excursion(TAPSE),tricuspid annular systolic velocity(S'),and left ventricular ejection fraction(LVEF)and fractional shortening(FS).Targeted metabolomic profiling was applied to detect the cardiac arachidonic acid(AA)metabolite levels.The contents of 12,13-dihydroxy-9Z-octadecenoic acid(12,13-diHOME)in the heart,liver,brown adipose tissue,and plasma were quantified by ELISA.② Eighteen mice were randomly assigned into plain+saline(P+S),high-altitude hypoxia exposure+saline(H+S)and high-altitude hypoxia exposure+12,13-diHOME(H+di)groups.Body weight,routine blood tests,and echocardiography were performed as above.③ Thirty-two mice were randomly divided into high-altitude hypoxia exposure+saline(H+S),high-altitude hypoxia exposure+celecoxib(H+Cel),high-altitude hypoxia exposure+soluble epoxide hydrolase inhibitor(sEHI)(H+sEHI),and high-altitude hypoxia exposure+sEHI+celecoxib(H+sEHI+Cel)groups.Body weight,routine blood tests,and echocardiography were performed as above.Cardiac and plasma contents of 12,13-diHOME and epoxyeicosatrienoic acids(EETs)were measured by ELISA.Results ① Compared to the P+S group,the H+S group exhibited significantly reduction of cardiac 12,13-diHOME level(P<0.001),increased counts of white blood cells(WBC)and neutrophils(P<0.01)and decreased TAPSE,S'and AT/ET both at resting state and under stress(P<0.01,P<0.001).Compared to the H+S group,the H+Cel group exhibited significantly increase of cardiac 12,13-diHOME level(P<0.05),reduced WBC and lymphocyte counts(P<0.01,P<0.05)and improved TAPSE and S'levels at resting state and under stress(P<0.01,P<0.001).② Compared to the H+S group,the H+di group demonstrated significantly improvement of TAPSE at basal and under stress(P<0.001)and a trend towards improved TAPSE at resting state(P=0.0532),but no obvious differences was observed in WBC and neutrophil counts between the H+di group and the H+S group.③ Compared to the H+Cel group,both the H+sEHI and H+sEHI+Cel groups exhibited significantly reduction of cardiac 12,13-diHOME level(P<0.01,P<0.05)though no statistical changes in cardiac function indicators.Compared to the H+S group,WBC counts and lymphocyte were decreased,and serum EETs level was incrased in the H+Cel group,H+sEHI group and H+sEHI+Cel group(P<0.01,P<0.001).Conclusion Celecoxib can elevate cardiac level of 12,13-diHOME and improves right heart function in mice after acute high-altitude hypoxia exposure through the CYP450-sEH metabolic pathway.

Acupuncture treatment of chronic pain combined with depression (CPDC) is the result of a multi-target, multi-pathway approach. Acupuncture can treat CPDC by inhibiting the activation of glial cells, regulating the release of inflammatory mediators, regulating the expressions of neurotransmitters, changing the plasticity of neural synapses, regulating related epigenetic effects, regulating the microbiota-brain-gut axis, inhibiting nerve cell apoptosis, and antagonizing oxidative stress. The mechanism of its effect mainly involves anti-inflammatory related signaling pathways, regulation of neural synapse-related signaling pathways, and exerts its therapeutic effect through hippocampus, cerebral cortex, and amygdala.

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.