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 clinical significance of the miR-543/syntrophin beta 1(SNTB1)axis in colorectal cancer(CRC)and its influence on the tumor immune microenvironment.Methods The expression of SNTB1 in CRC tissues was analyzed using public data,such as,The Cancer Genome Atlas(TCGA),Genotype-Tissue Expression(GTEx),and Human Protein Atlas(HPA).Then Kaplan-Meier survival analysis,univariate Cox regression analysis and correlation analysis were performed to evaluate the prognostic value of SNTB1 and its relationship with immune microenvironment in CRC.The targeting relationship between miR-543 and SNTB1 was confirmed through online databases and fluorescence assays in HT-29 cells.For in vitro experiments,after transfecting si-SNTB1,miR-543 mimics and/or SNTB1 overexpression plasmids,HT-29 cells were co-cultured with CD8+T cells,the expression of miR543 and SNTB1 and the viability and cytotoxicity of CD8+T cells were assessed with qRT-PCR,Western blotting,flow cytometry,ELISA,and lactate dehydrogenase(LDH)release assay.Results Analysis of public databases revealed significantly higher expression of SNTB1 in CRC tissues than normal tissues(P<0.001).The CRC patients with high SNTB1 expression exhibited poorer prognosis when compared with those with low expression level(P<0.05).Moreover,high SNTB1 expression was negatively correlated with immune scores in the tumor microenvironment and immune cell infiltration,especially CD8+T cells(P<0.05).Furthermore,Knockdown of SNTB1 in HT-29 cells enhanced the cytotoxic activity of CD8+T cells(P<0.01).Online database and in vitro experiments confirmed that miR-543 targets SNTB1,while the expression of miR-543 was decreased in colorectal cancer(P<0.001).Transfection with the miR-543 mimic inhibited the expression of SNTB1 in HT-29 cells(P<0.001),while overexpressing SNTB1 counteracted the promotion effect of miR-543 mimics on CD8+T cell-mediated cytotoxicity(P<0.05).Conclusion MiR-543 activates CD8+T cells and enhances their cytotoxicity against HT-29 cells by directly targeting SNTB1.

Objective: To investigate the status and influencing factors of influenza vaccination among the elderly, so as to provide insights into improving the strategies for influenza vaccination among the elderly. Methods: Elderly people aged 60 years and above were recruited from one community each in five sub-districts of Shihezi City, Xinjiang Uygur Autonomous Region using a random sampling method. Demographic information, knowledge about influenza and influenza vaccines, vaccine literacy and influenza vaccination status in the past year were collected through questionnaire surveys. Factors affecting influenza vaccination among the elderly were analyzed using a multivariable logistic regression model. Results: Totally 1 121 valid questionnaires were recovered, with an effective recovery rate of 95.08%. There were 417 males (37.20%) and 704 females (62.80%). The majority were aged 60-<81 years, accounting for 80.37% (901 individuals). The awareness of knowledge about influenza and influenza vaccines was 78.86%. Low vaccine literacy was observed in 786 individuals, representing 70.12%. The influenza vaccination rate was 20.96%. Multivariable logistic regression analysis showed that age (71-<81 years, OR=1.607, 95%CI: 1.041-2.479; ≥81 years, OR=1.719, 95%CI: 1.040-2.842), educational level (middle school/technical secondary school, OR=0.616, 95%CI: 0.416-0.911), medical expense payment (employee medical insurance, OR=6.531, 95%CI: 2.030-21.010; resident medical insurance, OR=3.385, 95%CI: 1.095-10.466; public expense, OR=4.828, 95%CI: 1.700-13.712), vaccination willingness (yes, OR=6.237, 95%CI: 3.277-11.871), influenza vaccination history (yes, OR=14.600, 95%CI: 8.733-24.408) and vaccine literacy (medium and above, OR=2.412, 95%CI: 1.636-3.555) were associated with influenza vaccination among the elderly. Conclusion The influenza vaccination rate among the elderly was relatively low, and was mainly affected by age, educational level, medical expense payment, vaccination willingness, influenza vaccination history and vaccine literacy.

Biometric recognition technology has developed rapidly and highly integrated with clinical diagnostics,phenotypic genomics,genomics,and big data analytics,facilitating not only precise personal identification but also demonstrating significant potential in health maintenance,particularly for military personnel.Global research has increasingly focused on uncovering the complex associations between biometric traits and key health determinants,such as disease susceptibility,psychological states,and physiological functions,to further harness biometrics in proactive health management.This paper provided a comprehensive overview of the latest progress and emerging applications of biometric technology in healthcare and military medicine,aiming to offer a scientific reference supporting the strategic development of biometrics research,its application promotion,and population-wide health management enhancement.

OBJECTIVE: To investigate the feasibility and clinical outcomes of emergency reconstruction of traumatic dynamic muscle defects using functional superficial vastus lateralis chimeric perforator flap based on descending branch of lateral femoral circumflex artery. METHODS: A retrospective analysis was conducted of 10 patients with traumatic dynamic muscle defects treated between March 2020 and April 2024. There were 8 males and 2 females, aged 23-52 years (mean, 36.7 years). Injuries included 7 cases of Gustilo type ⅢB forearm trauma (2 with flexor muscle group defects, 3 with extensor muscle group defects, and 2 with combined flexor and extensor muscle group defects), 1 case of right first metacarpal defect with concomitant thenar muscle and skin defect, 1 case of complete transection of the right upper arm musclecutaneous nerve extracted from the biceps brachii muscle, and 1 case of Gustilo type ⅢC lower-limb trauma with extensor hallucis longus and toe extensor defects. Soft tissue defects ranged from 10 cm×8 cm to 36 cm×11 cm. Preoperative musculoskeletal ultrasound of the contralateral side was used to measure cross-sectional area, length, and pennation angle of the target muscles. Based on these parameters, anterolateral thigh flaps combined with one or two superficial vastus lateralis muscle segments were designed and transplanted to the recipient sites. The grafts were used to cover wounds, reconstruct major missing muscle groups, and were fixed in place. Vascular and neural anastomoses were performed simultaneously with repair of bone and soft tissue injuries to restore limb perfusion and function. Postoperative evaluation included musculoskeletal ultrasound, electrophysiology, and dynamic assessment of muscle strength during follow-up. RESULTS: All transplanted muscles and flaps survived primarily without vascular or neural complications. All the 10 patients were followed up 10-38 months, with an average of 22.8 months. The muscle strength recovery reached M₅ in 6 cases, M₄ in 3 cases, and M3+ in 1 case. Patients achieving M₄ or above regained their original work capacity; limb contours were symmetrical, with no joint deformities, and patients achieved effective ranges of motion; functional recovery included the ability to push or lift weights of 2-30 kg, perform opposition, and achieve grasping function. All flaps were soft and lustrous, and the protective sensation restored in all patients. There was no discomfort in the donor site and knee joint. Musculoskeletal ultrasound showed that the average cross-sectional area of the transplanted muscles increased by 4%-66% in 10 cases at 1 month after operation, and the ratio of the average cross-sectional area of the transplanted muscles in contraction and relaxation was 1.37±0.16 in 7 cases at 6 months after operation. Electrophysiological examination showed that motor potential could be detected in 8 cases at 2 months after operation, and then the amplitude increased gradually, and 2 cases were not detected. CONCLUSION Emergency reconstruction of traumatic dynamic muscle defects using functional superficial vastus lateralis chimeric perforator flap based on descending branch of lateral femoral circumflex artery achieves near-normal muscle strength recovery and effective joint motion. This technique allows for reconstruction of one or two major muscle groups as clinically required.
Humans ; Male ; Adult ; Female ; Perforator Flap/blood supply* ; Plastic Surgery Procedures/methods* ; Retrospective Studies ; Soft Tissue Injuries/surgery* ; Middle Aged ; Quadriceps Muscle/transplantation* ; Femoral Artery/surgery* ; Young Adult ; Muscle, Skeletal/surgery* ; Treatment Outcome ; Forearm Injuries/surgery*

Objective To investigate the predictive value of matrix γ-carboxyglutamic acid protein(matrix GLA protein)expression in patients with acute myocardial infarction(AMI)for major adverse cardiovascular events(MACE)after percutaneous coronary intervention(PCI).Methods A total of 157 AMI patients undergoing PCI in our department from November 2021 to Septem-ber 2023 were recruited,and divided into a MACE group(43 cases)and a non-MACE group(114 cases)based on the occurrence of MACE over a 12-month follow-up period post-surgery.Multiva-riate logistic regression analysis was used to screen the predictors of MACE and to verify their predictive value.Results The MACE group had significantly older age,larger proportion of diabe-tes,and higher low-density lipoprotein cholesterol(LDL-C)level,but lower matrix GLA protein level than the non-MACE group(P＜0.05,P＜0.01).Multivariate logistic regression analysis showed that age(OR=1.168,95％CI:1.004-1.358,P=0.044),diabetes(OR=3.085,95％CI:1.024-9.301,P=0.045)and LDL-C(OR=2.473,95％CI:1.185-5.163,P=0.016)were risk factors,and matrix GLA protein(OR=0.527,95％CI:0.426-0.653,P=0.001)was a protective factor for MACE in AMI patients after PCI.ROC curve analysis indicated that matrix GLA pro-tein had the highest predictive value of MACE in AMI patients after PCI,with an AUC value of 0.838(95％CI:0.770-0.892).After adjusting for age,diabetes,and LDL C,the restricted cubic spline revealed that matrix GLA protein level was in a nonlinear negative correlation with MACE risk(x2=30.260,P＜0.05).Conclusion Matrix GLA protein can predict the occurrence of MACE in AMI patients after PCI.

Paraplegia caused by spinal cord injury is a serious neurological complication, for which surgery is currently the main treatment method. Due to different surgical approaches, patients are usually expected to maintain a passive prone position for a long time or switch between the supine and prone positions. Affected by multiple factors such as neurogenic sensory disorders, pathological changes in muscle tone and operative duration, the risk of intraoperative acquired pressure injury (IAPI) is significantly increased. Current clinical prevention strategies for IAPI in these patients predominantly focus on localized pressure relief during positioning, lacking systematic, standardized comprehensive prevention protocols or evidence-based guidelines. To address it, Department of Nursing, Orthopedics Branch, China International Exchange and Promotive Association for Medical and Health Care, Spinal Trauma Professional Committee, Orthopedics Branch, Chinese Medical Doctor Association, Nursing Group of Spine and Spinal Cord Professional Committee of Chinese Association of Rehabilitation Medicine organized experts in relevant fields to formulate Guideline for the prevention of intraoperative acquired pressure injury in paraplegic patients with spinal cord injury ( version 2025), based on evidence-based medical evidence and latest research results and clinical practice at home and abroad. Eleven recommendations were put forward from the aspects of preoperative risk assessment, intraoperative prevention strategies, postoperative handover and monitoring, and supportive mechanisms for IAPI prevention, aiming to standardize the prevention measures and management strategies of IAPI in paraplegic patients with spinal cord injury and accelerate the recovery of patients and improve the therapeutic effect.

Objective:To investigate the efficacy and mechanism of botulinum toxin type A (BTX-A) combined with static progressive stretching (SPS) in the treatment of traumatic knee stiffness in rats.Methods:Forty healthy male SD rats aged 8 weeks and weighing 220-300 g, were randomly divided into blank control group ( n=8) and model groups ( n=28) (including injury group, BTX-A group, SPS group and BTX-A+SPS group, with 7 in each group). Hlidebrand′s method was used to construct a traumatic knee stiffness model, with the following main steps: destruction of the joint capsule, Kirschner wire fixation, joint drilling, and removal of the internal fixation at 4 weeks. The blank control group did not receive any treatment and could move freely in the cage. The injury group moved freely after successful modeling. On the day of internal fixation removal, BTX-A was injected into the joint cavity in group BTX-A, SPS treatment was started in the SPS group, BTX-A was injected into the joint cavity and SPS treatment was started in the BTX-A+SPS group. The treatments lasted 16 days. The range of motion (ROM) and joint stiffness were measured before treatment and at 16 days after treatment. At 16 days after treatment, knee joint tissue was collected and the rats were sacrificed, and the articular capsule fibrous tissue proliferation was observed by HE and Masson staining. The expression levels of phosphorylated (p)-Smad2, Smad2, p-Smad3, Smad3, Smad4, transforming growth factor-β1 (TGF-β1), collagen type I, collagen type III, and α-smooth actin (α-SMA) were determined by Western blot. The ratio of phosphorylated protein to total protein was calculated to reflect the phosphorylation level. Results:(1) ROM: Before treatment, the ROM in the blank control group was significantly higher than that in the other groups ( P<0.05), with no significant difference in ROM among the other groups ( P>0.05). At 16 days after treatment, ROM in the injury group, BTX-A group, SPS group, and BTX-A+SPS group was lower than that in the blank control group ( P<0.05), among which ROM in the BTX-A+SPS group was significantly higher than that in the injury group, BTX-A group, and SPS group ( P<0.05). At 16 days after treatment, there was no significant difference in ROM before and after treatment in the blank control group ( P>0.05), and ROM in the other groups was significantly increased compared with that before treatment ( P<0.01). (2) Joint stiffness: At 16 days after treatment, the joint stiffness levels in the injury group, the BTX-A group, and the SPS group were (0.95±0.24)N·cm/°, (0.86±0.22)N·cm/°, and (0.65±0.09)N·cm/° respectively, which were significantly lower than (0.36±0.03)N·cm/° in the blank control group ( P<0.05). The joint stiffness level of the BTX-A+SPS group was (0.49±0.04)N·cm/°, which was not significantly different from that in the blank control group ( P>0.05), but was significantly lower than those in the injury group, BTX-A group, and SPS group ( P<0.05). (3) Fibrous tissue proliferation: at 16 days after treatment, the joint capsular structure in the blank control group was complete and clear, the fibers were arranged in order, and there was no obvious fibrous tissue proliferation. The pathological changes in the injury group were the most serious, with a large number of synovial fibrous tissue proliferation, significantly increased blood vessels in the tissue, and inflammatory cell infiltration. Compared with the SPS group and BTX-A group, the lesions in BTX-A+SPS group were milder, with only slight increase in the number of synovial cells but no obvious vascular proliferation or lymphocytes, and the overall lesions were the least severe. (4) Protein expression: the ratios of p-Smad2/Smad2 in the injury group, BTX-A group and SPS group were 1.552±0.234, 1.328±0.272 and 1.194±0.277 respectively, which were higher than 0.794±0.082 in the blank control group ( P<0.05). The ratio of p-Smad2/Smad2 in the BTX-A+SPS group was 1.013±0.123, which was not significantly different from those in the blank control group, BTX-A group or SPS group ( P>0.05), but was lower than that in the injury group ( P<0.05). At 16 days after treatment, the p-Smad3/Smad3 ratios in the injury group, BTX-A group, SPS group and BTX-A+SPS group were 2.272±0.309, 1.664±0.285, 1.381±0.276 and 1.003±0.060 respectively, which were higher than 0.515±0.051 in the blank control group ( P<0.05). The p-Smad3/Smad3 ratio in the BTX-A+SPS group was significantly lower than those in the injury group, BTX-A group and SPS group ( P<0.05). At 16 days after treatment, the level of Smad4 in the injury group (1.001±0.015) was higher than 0.294±0.076 in the blank control group ( P<0.05). However, there was no significant difference between the BTX-A group (0.664±0.051), SPS group (0.833±0.045), BTX-A+SPS group (0.467±0.068) or the blank control group ( P>0.05). The level of Smad4 in the BTX-A+SPS group was significantly lower than those in the injury group, BTX-A group and SPS group ( P<0.05). At 16 days after treatment, the level of TGF-β1 in the injury group (1.004±0.407) was higher than 0.269±0.122 in the blank control group ( P<0.05), while there was no significant difference between the BTX-A group (0.564±0.194), SPS group (0.422±0.086) and BTX-A+SPS group (0.347±0.161) and the blank control group ( P>0.05). The level of TGF-β1 in the BTX-A+SPS group was significantly lower than those in the injury group, BTX-A group and SPS group ( P<0.05). At 16 days after treatment, the level of type I collagen in the injury group was 0.999±0.170, higher than 0.299±0.139 in the blank control group ( P<0.05), while there was no significant difference between the BTX-A group (0.542±0.278), SPS group (0.561±0.165), and BTX-A+SPS group (0.537±0.045) and the blank control group ( P>0.05). The level of collagen type I in the BTX-A+SPS group was significantly lower than those in the injury group, BTX-A group, and SPS group ( P<0.05). At 16 days after treatment, the level of type III collagen in the injury group was 1.002±0.126, higher than 0.239±0.106 in the blank control group ( P<0.05), while there was no significant difference between the BTX-A group (0.661±0.062), SPS group (0.595±0.062), and BTX-A+SPS group (0.504±0.269) and the blank control group ( P>0.05). The level of collagen type III in the BTX-A+SPS group was significantly lower than those in the injury group, BTX-A group, and SPS group ( P<0.05). At 16 days after treatment, the level of α-SMA in the injury group was 0.998±0.074, higher than 0.130±0.023 in the blank control group ( P<0.05), while there was no significant difference between the BTX-A group (0.358±0.060), SPS group (0.432±0.230), and BTX-A+SPS group (0.293±0.135) and the blank control group ( P>0.05). The level of α-SMA in the BTX-A+SPS group was significantly lower than those in the injury group, BTX-A group and SPS group ( P<0.05). Conclusions:Compared with single treatment, the combination of BTX-A and SPS demonstrates significantly greater efficacy in the treatment of traumatic knee stiffness in rats. This combined approach not only enhances joint mobility and elasticity but also effectively inhibits joint capsule fibrosis. The underlying mechanism may involve the further suppression of TGF-β1 expression in the joint capsule, leading to reduced phosphorylation levels of Smad2 and Smad3. This, in turn, inhibits the binding of Smad2 and Smad3 to the Smad4 receptor, ultimately downregulating the expression of the downstream proteins of the TGF-β/Smad signaling pathway, such as collagen type I, collagen type III and α-SMA.

Objective:To analyze the influencing factors of low fall alertness in elderly inpatients,construct a risk prediction model and validate it,providing a reference for clinical medical staff to identify elderly inpatients with low fall alertness in the early stage.Methods:A total of 605 elderly inpatients treated in Yijishan Hospital affiliated to Wannan Medical College from Oct 2023 to Mar 2024 were enrolled and randomly divided into the training group(n=423)and validation group(n=182)at a ratio of 7∶3.The patients were evaluated using a general information questionnaire,the Social Frailty Screening Tool(HALFT),the Tilburg Frailty Indicator(TFI),and the Self-Awareness of Falls in Elderly scale(SAFE).Multivariate logistic analysis was used to determine the influencing factors of low fall alertness in elderly inpatients.RStudio was used to construct a risk prediction model of low fall alertness.The discrimination,calibration,and clinical net benefit of the model were verified using the receiver operating characteristic(ROC)curves,calibration plots,and decision curve analysis(DCA).Results:Multivariate logistic analysis showed that the history of falls,monthly income,previous physical activity time,social frailty score and TFI score were independent risk factors for low fall alertness in elderly inpatients.The Hosmer-Lemeshow χ2 test showed that χ2=8.863,P=0.354,indicating good calibration of the prediction model.The area under the ROC curve of the training group and the validation group were 0.860(95%CI:0.815-0.904)and 0.937(95%CI:0.888-0.986),respectively,and the maximum Youden indices of the model was 0.576 and 0.788,respectively,indicating good discrimination of the model.The DCA decision curve showed that the model had good clinical effectiveness.Conclusion:The constructed model has a good prediction effect and can help clinical medical staff quickly and effectively screen out elderly inpatients at risk of low fall alertness.

Objective:To investigate the clinical effect of the transfer of lateral femoral fascia or combined with anteriolateral thigh flap (ALTF) on treatment of defects of Achilles tendon and surrounding soft tissue.Methods:From May 2004 to December 2021, 15 patients with Achilles tendons defects were treated with the transfer of either lateral femoral fascia or combined with ALTF in the Department of Hand and Foot Microsurgery, Xi'an Fengcheng Hospital. Two of the patients had postoperative infection after the primary treatment for Achilles tendon rupture and 13 patients had Achilles tendon defect together with various grade of defects of surrounding soft tissues. According to the size of wound, ALTFs and lateral superior knee flaps were used for the reconstructions. Various complex tissue flaps were used in reconstructive surgery: ALTF in 10 patients, the lateral thigh muscular flap in 3 patients and the lateral knee artery flap in 5 patients. The length of Achilles tendon defect was 3.0-8.0 cm and the length of fascia was 4.0-9.0 cm. The sizes of the flaps were 4.0 cm×3.0 cm-30.0 cm×18.0 cm. After the fascia and the flaps were harvested, the fascia was rolled up or wrapped up around the muscle with the knee at 30° flexion and the ankle at 30° flexion. Then end-to-end or end-to-side blood vessel anastomoses were carried out. The ALTFs were used to cover the wounds.Results:All the 15 flaps survived. After 2 to 5 years of follow-up, the heel lift test was found negative, without re-broken of Achilles tendon. All patients were in normal walking gait, except 2 patients who had mild lameness. According to the Amer-Lindholm scoring criteria, the results were excellent in 13 patients and good in 2 patients.Conclusion:Lateral thigh composite tissue transfer is an effective method to reconstruct Achilles tendon and the defects of its surrounding tissues.