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 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.

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 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.

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 intervention effect of binary coping strategy based on systemic interaction model on the postoperative survival quality of patients with oral cancer.Methods:A total of 99 patients with oral cancer admitted to the Department of Oral and Maxillofacial Surgery of a tertiary hospital from Jun 2021 to Jun 2022 was selected.They were randomly divided into the control group(50 cases)and the observation group(49 cases)with random number table method.The control group received routine nursing for oral cancer.On this basis,the observation group also received the binary coping strategy based on the systemic interaction model.The scores of UW-QOL quality of life scale and binary coping scale were compared between the two groups before surgery,at the 3rd and 9th weeks after surgery.Results:The UW-QOL scores of both groups at the 3rd and 9th weeks after surgery were lower than those at admission,and the UW-QOL score in the control group was lower than that in the observation group(P＜0.05).At the 3rd week after surgery,the score of coping with the partner in the observation group was higher than that in the control group(P＜0.05).At the 9th week after surgery,the total score,negative coping,stress communication,coping together,and supportive coping scores in the observation group were higher than those in the control group(P＜0.05).Repeated measures analysis of variance showed that there was an interaction between time and group for the total score of binary coping scale(P＜0.05).And there was a significant main effect of time and group on the total score of binary coping scale(P＜0.05).Conclusions:The quality of life of patients with oral cancer is poor.The binary coping strategy based on the systemic interaction model can improve the quality of life of patients,enhance the intimacy of patients with their partners,and contribute to the disease recovery of patients with oral cancer.

Objective:To explore the classification and influencing factors of family resilience and post-traumatic growth in patients with spinal tumor.Methods:A cross-sectional investigation was conducted among 219 inpatients with spinal tumor admitted from July 2021 to July 2022. The General Demographic Information questionnaire, Chinese-Family Resilience Assessment Scale, Posttraumatic Growth Inventory, Family Crisis-Oriented Personal Evaluation Scales (F-COPES), and Social Support Rating Scale (SSRS) were used in the study. The ordinal and multivariate logistic regression analyses was applied to identify the factors associated with the classification of family resilience and post-traumatic growth.Results:Of the 219 patients, there were 62 cases of primary spinal tumors (28.3%). According to the results of latent profile analysis, the respondents were classified into three categories by family resilience and post-traumatic growth, namely family difficulty-resistant type ( n=38, 17.4%), general resilience-struggle type ( n=99, 45.2%) and family adaptation-growth type ( n=82, 37.4%). There were significant differences in occupational status, commitment to housework, family atmosphere( χ2=10.75, P=0.025; χ2=6.95, P=0.031; χ2=11.37, P=0.017), and total score of F-COPES and SSRS ( F=25.95, P<0.001; F=19.06, P<0.001)among three groups. Ordinal and multivariate logisitc regression analyses showed that retirement ( OR=2.928, 95% CI:1.098-7.808, P<0.05), family coping ( OR=1.113, 95% CI:1.063-1.165, P<0.05), and social support ( OR=1.226, 95% CI:1.103-1.362, P<0.05) were independently associated with family resilience and post-traumatic growth in patients with spinal tumor. Conclusion:Patients with spinal tumor have significant differences in characteristics by family resilience and post-traumatic growth. As a result, more targeted interventions should be provided for different categories of spinal tumor patients in the future.

Objective To investigate the expressions of H3.3G34W,p63 and SATB2 in giant cell tumor of bone(GCTB)and the effect and value of their combined application in the diagnosis of GCTB.Methods We collected the samples and medical records of 54 cases of GCTB and 83 cases of non-giant cell tumor of bone(14 cases of aneurysmal bone cyst,16 cases of chondroblastoma and 53 cases of non-ossifying fibroma)diagnosed between 2020 and 2022 in the Department of Pathology of Honghui Hospital Affiliated to Xi'an Jiaotong University.The expressions of H3.3G34W,p63 and SATB2 were detected by EliVision immunohistochemical method.X2 test was used to determine whether there are significant differences in the positive rates of H3.3G34W,p63 and SATB2 among all the groups.The combined diagnostic model including H3.3G34W,p63 and SATB2 was established by Logistic regression analysis,and the diagnostic value of the model was evaluated by ROC curve analysis.Results The positive rates of H3.3G34W,p63 and SATB2 in GCTB group were 81.5％,90.7％and 92.6％,respectively;the positive rates in NGCTB group were 2.4％,28.9％and 62.7％.Compared with NGCTB group,the age of GCTB group was significantly older[(41.222±14.849)vs.(16.566±9.439),P＜0.001],and the prevalence was higher in women than in men(51.9％vs.48.1％,P＜0.001).In addition,compared with the NGCTB group,the positive rates of H3.3G34W(81.5％vs.2.4％,P＜0.001),p63(90.7％vs.28.9％,P＜0.001)and SATB2(92.6％vs.62.7％,P＜0.001)were significantly higher in the GCTB group.Univariate regression analysis built a univariate prediction modeland ROC curve analysis showed that age(AUC=92.9％,P＜0.001),sex(AUC=64.5％,P=0.004),H3.3G34W positive rate(AUC=89.5％,P＜0.001),p63 positive rate(AUC=80.9％,P＜0.001)and SATB2 positive rate(AUC=65.0％,P=0.003)were independent predictors of diagnosis of giant cell tumor of bone.Multivariate regression analysis(Logistic)constructed a hybrid prediction model.ROC curve analysis suggested that the hybrid model showed better prediction value than the single factor model(AUC=98.4％,P＜0.001).Conclusion H3.3G34W,p63 and SATB2 are effective molecular markers for the diagnosis of GCTB,and their combined application can improve the prediction efficiency of the diagnosis of GCTB.

Objective To investigate the clinical significance and serum changes of asprosin(ASP)levels in patients with essential hypertension and early renal damage.Methods According to urinary albumin/creatinine ratio(UACR),160 patients with essential hypertension were divided into the simple hypertension group(78 cases)and the early renal damage group(82 cases).Another 60 healthy subjects were selected as the control group.The differences of serum ASP,interleukin-6(IL-6)and UACR levels were compared between groups.The correlation between ASP and blood pressure,IL-6 and UACR was analyzed.Logistic regression analysis was used to analyze the factors influencing early renal damage in essential hypertension.Receiver operating characteristic(ROC)curve was used to analyze the predictive value of each index for early renal injury.Results The serum levels of ASP,IL-6 and UACR were higher in the early renal damage group than those in the control group and the simple hypertension group(all P＜0.05).The serum levels of ASP and IL-6 showed an increasing trend with the increase of blood pressure.ASP was positively correlated with systolic blood pressure(SBP),diastolic blood pressure(DBP)and IL-6 levels in patients with essential hypertension(all P＜0.05).Serum ASP was positively correlated with SBP,UACR and IL-6 levels in essential hypertension patients(P＜0.05),and serum ASP was positively correlated with UACR and IL-6 levels in the early renal damage group(P＜0.05).Logistic regression analysis showed that higher levels of SBP,ASP and IL-6 were independent risk factors for early renal damage.ROC curve showed that ASP had the largest area under the curve(AUC)of 0.972(95%CI:0.950-0.993).The AUC of combined detection of ASP+IL-6+SBP was 0.986(95%CI:0.972-0.999).Conclusion The increased serum ASP level in patients with early renal damage in essential hypertension is a good predictor of early renal damage.The combined detection of ASP+IL-6+SBP is better than single detection.

Hepatolithiasis is one of the most difficult benign diseases in hepatobiliary surgery due to its diverse causes, complex pathogenesis, and high difficulty in therapy. The authors discuss controversial issues in epidemiology, etiology, pathogenesis, and surgical treatment of hepatolithiasis, aiming to explore the research progress and controversial issues, and improve the understanding, diagnosis, and therapy of hepatolithiasis among clinical physicians.