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

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 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.

[Purpose]To analyze the results of cervical cancer screening among married women of 25～64 years old in Shihezi City from 2021 to 2023,and to explore the risk factors of cervical le-sions.[Methods]The results of cervical cancer screening among married women aged 25～64 years old in Shihezi City from 2021 to 2023 were retrospectively analyzed.The detection rates of common gynecological diseases,cervical cancer and precancerous lesions and human papillo-mavirus(HPV)infection by cervical cytology,colposcopy and cervical biopsy were analyzed.[Re-sults]The HPV infection(mainly single infection)rate was 10.74％.The common gynecological diseases were vaginitis,cervicitis and uterine leiomyoma.The detection rate of cervical cancer was 19.59/105,and the detection rate of cervical precancerous lesions was 308.52/105.Rural resi-dents,HPV 16/18 infection,genital warts were the risk factors for cervical lesions.[Conclusion]Female cervical lesions are significantly correlated with HPV 16/18 infection,genital condyloma acuminatum,particularly for rural residents,and preventive care,early screening and interven-tion should be strengthened for these populations.

Objective:To analyze the frailty status and its influencing factors among middle-aged and elderly individuals of Zhiguo ethnic groups in Yunnan Province.Methods:A cross-sectional study was conducted using a multi-stage random cluster sampling method in the settlements of the Zhiguo ethnic groups in Yunnan Province from July to December in 2022. The study enrolled a total of 1 036 middle-aged and elderly individuals aged 45 years and above. Data on general characteristics (including chronic disease prevalence, sleep quality, smoking and alcohol consumption) and frailty status were collected in the subjects. A total of 1 050 questionnaires were distributed, 1 040 questionnaires returned with 1 036 valid responses (98.7%). Logistic regression analysis was performed to identify factors influencing frailty status among different Zhiguo ethnic groups.Results:Among the 1 036 middle-aged and elderly individuals of Zhiguo ethnic groups in Yunnan Province, there were 482 males and 554 females, with a frailty rate of 26.25% (272/1 036), the Bulang ethnic group had the highest frailty rate (35.56%) and the Jinuo ethnic group showed the lowest (18.49%). Being aged≥60 years ( OR=1.647, 95% CI: 1.177-2.303), having≥2 chronic diseases ( OR=2.183, 95% CI: 1.470-3.245), and suffering from sleep disorders ( OR=2.468, 95% CI: 1.786-3.411) were positively associated with frailty occurrence, whereas having high social support ( OR=0.614, 95% CI: 0.434-0.867) was inversely associated with the risk of frailty (all P<0.05). Ethnic subgroup analyses revealed that suffering from sleep disorders were a common influencing factor for frailty across all Zhiguo ethnic groups (all P<0.05). In the Jinuo ethnic group, having≥2 chronic diseases showed a positive association with frailty ( OR=3.387, 95% CI: 1.054-10.879) ( P<0.05). In the Bulang subgroup, having≥2 chronic diseases ( OR=3.951, 95% CI: 1.201-12.995) and aged ≥60 years ( OR=3.415, 95% CI: 1.347-8.657) were both positively associated with frailty, while having high social support ( OR=0.185, 95% CI: 0.065-0.527) was inversely associated with the risk of frailty (all P<0.05). Conclusion:The frailty rate in middle-aged and elderly individuals among Zhiguo ethnic groups in Yunnan Province is notably high, and sleep quality, social support, and chronic conditions are its main influencing factors.

Salmonella,an important foodborne pathogen,is responsible for numerous diseases in both humans and animals.We conducted a genome-wide analysis of Salmonella isolates from diarrheal and foodborne infection cases in Gansu Province between 2021 and 2023.A total of 163 Salmonella strains were collected and subjected to biochemical identification,followed by serological typing,whole-genome sequencing,and bioinformatics characterization.The results revealed 27 distinct serotypes,among which Sal-monella typhimurium variant(S.4,[5],12∶1∶-),Salmonella enteritidis,and Salmonella enterica London were predominant.Notably,the serotype distribution exhibited significant variation across sample sources.Multilocus sequence typing(MLST)classified the iso-lates into 27 sequence types(STs),among which ST34,ST11,ST155,and ST19 had the highest prevalence.The MLST profiles dem-onstrated strong concordance with serological classifications.For Salmonella,we detected a total of 17 673 virulence genes in 374 cat-egories,carrying multiple virulence islands.Some strains carried virulence plasmid genes,among which 45 strains of Salmonella enter-itidis had higher types and numbers of virulence factors detected than other serotypes of Salmonella.Antimicrobial resistance profiling identified 69 resistance genes conferring resistance to 13 classes of antimicrobial agents,and multidrug resistance patterns were preva-lent among isolates.Plasmid characterization revealed 35 plasmid types,some containing antimicrobial resistance determinants.Addi-tionally,three disinfectant resistance genes were identified.This study highlights the extensive diversity of Salmonella serotypes and STs in Gansu Province and the complex repertoire of virulence and resistance genes.The emergence of disinfectant resistance genes un-derscores challenges in conventional disinfection protocols.These findings provide critical insights for refining Salmonella surveillance and control strategies in public health and food safety contexts.

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.

Objective:To investigate intraoperative pathological findings and the interventional effects of "deep cervical lymphaticovenous anastomosis+" (dcLVA+) on deep cervical lymphatic drainage as well as the blood flow of carotid artery and jugular vein in elderly patients with cognitive impairment, and to put forward the thoughts based on the findings from the surgery.Methods:Between May 2024 and December 2024, retrospective analysis of Microsurgery Hospital, Fengcheng Hospital, Xi'an Medical College performed dcLVA+ between the deep cervical lymphatics or lymph nodes and jugular veins in 50 elderly patients with cognitive impairment (19 males and 31 females, aged 55-88 years with 69.94 years in average). Nine patients were found with Clinical Dementia Rating (CDR) score at 1 (mild), 7 with CDR score at 2 (moderate) and 34 with CDR score at 3 (severe). Intraoperative observations based on literature reviews had identified anatomical relationships between the lymphatic sacs containing cervical lymphatic chain and the carotid sheath. The lymph node count, size, distribution, thickness of fat tissue and conditions of lymphatic vessels were documented. Ultrasound was used to compare the blood flow of carotid artery and jugular vein as well as the cross-sectional areas at the planes of hyoid and cricoid cartilage before and after the closure of incisions under anaesthesia in 39 patients. Correlation analyses for Mini-Mental State Examination (MMSE), Montreal Cognitive Assessment (MoCa), Activities of Daily Living (ADL) and Agitation behavior score before and 1 week after surgery were performed using Spearman's correlation and Wilcoxon paired tests. P<0.05 was considered statistically significant. Postoperative follow-ups were conducted via the visit of outpatient clinic and WeChat and telephone interviews. Results:In surgery, the cervical lymphatic chain was found running within an almost enclosed sac surrounding the carotid sheath. There were enlarged lymph nodes, increased fat deposition, lymphatic dilation or fibrosis in the sac. The preoperative blood flow in the carotid artery at the planes of hyoid and cricoid cartilage in the 39 patients was recorded at 150.52 ml/min±40.33 ml/min and 358.29 ml/min±129.30 ml/min, while that in the jugular vein was at 172.50 ml/min±63.94 ml/min and 317.00 ml/min±105.21 ml/min, respectively, both were far lower than the normal blood flow. There were statistically significant differences in the blood flow of carotid artery and jugular vein before and after surgery ( P<0.01). It was found that the preoperative blood flow of the internal carotid artery at the plane of hyoid was positively correlated with the preoperative scores of MMSE ( P<0.01), MoCa ( P<0.05) and ADL ( P<0.01). The blood flow of the common carotid artery at the plane of cricoid cartilage was found significantly and positively correlated with the preoperative scores of MMSE ( P<0.05). It was also noted that the blood flow of the internal carotid artery at the plane of hyoid was significantly and positively correlated with the postoperative ADL ( P<0.01) but negatively correlated with the Agitation behavior score ( P<0.05). The blood flow of the common carotid artery at the plane of cricoid cartilage was significantly and positively correlated with the postoperative scores of MMSE and MoCa ( P<0.05). The blood flow of the internal jugular vein at the plane of hyoid was negatively correlated with the Agitation behavior score ( P<0.01). The cross-sectional area of carotid artery at the plane of left hyoid was significantly and positively correlated with the MMSE score ( P<0.05). Statistically significant differences were observed in MMSE, MoCa, ADL and Agitation behavior score before and after surgery ( P<0.01). Conclusion:dcLVA+ shows a certain therapeutic benefit to the elderly patients with cognitive impairment. The intraoperatively observed pathological changes in cervical lymphatic sacs affect deep cervical lymphatic drainage and the blood flow of carotid artery and jugular vein. Further studies are necessary to find out whether the findings from this study would be the specific pathological changes and the morbidity mechanisms among the elderly patients with cognitive impairment.