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 correlation between plasma vitamin D levels and a novel inflam-matory marker,the systemic immune-inflammatory index(SII),in patients with type 2 diabetes.Methods This study adopted a cross-sectional design,in which patients diagnosed with type 2 diabetes who were admitted to the First Affiliated Hospital of Guangxi Medical University were enrolled as study participants.Data on demographic characteristics,medical history,physical examination findings,and laboratory test results were systematically collected.Participants were categorized into three groups based on their serum vitamin D levels:deficient,insuffi-cient,and sufficient.The relationship between vitamin D levels and the SII was evaluated using a multivariate linear regression model.Additionally,a restricted cubic spline model was employed to assess the nonlinear dose-response association between vitamin D levels and SII.Results This study enrolled a total of 5,716 patients with type 2 diabetes.A statistically significant difference in the SII was observed across groups with varying vitamin D levels(P<0.05),with the highest SII value found in the vitamin D-deficient group.Multivariate linear regression analysis revealed that,after adjusting for potential confounding factors including gender,age,season of blood collection,body mass index,hypertension,dyslipidemia,and chronic kidney disease,vitamin D levels were negatively associ-ated with SII(β=-2.68,95%CI:-3.56 to-1.81,P<0.001).Compared with the vitamin D-deficient group,the vitamin D-sufficient group exhibited significantly lower SII levels(β=-78.42,95%CI:-137.90 to-18.93,P=0.01).Furthermore,the restricted cubic spline model indicated a nonlinear dose-response relationship between vita-min D levels and SII(P<0.001).Conclusion There is a significant inverse correlation between plasma vitamin D levels and the SII in patients with type 2 diabetes.

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 correlation between plasma vitamin D levels and a novel inflam-matory marker,the systemic immune-inflammatory index(SII),in patients with type 2 diabetes.Methods This study adopted a cross-sectional design,in which patients diagnosed with type 2 diabetes who were admitted to the First Affiliated Hospital of Guangxi Medical University were enrolled as study participants.Data on demographic characteristics,medical history,physical examination findings,and laboratory test results were systematically collected.Participants were categorized into three groups based on their serum vitamin D levels:deficient,insuffi-cient,and sufficient.The relationship between vitamin D levels and the SII was evaluated using a multivariate linear regression model.Additionally,a restricted cubic spline model was employed to assess the nonlinear dose-response association between vitamin D levels and SII.Results This study enrolled a total of 5,716 patients with type 2 diabetes.A statistically significant difference in the SII was observed across groups with varying vitamin D levels(P<0.05),with the highest SII value found in the vitamin D-deficient group.Multivariate linear regression analysis revealed that,after adjusting for potential confounding factors including gender,age,season of blood collection,body mass index,hypertension,dyslipidemia,and chronic kidney disease,vitamin D levels were negatively associ-ated with SII(β=-2.68,95%CI:-3.56 to-1.81,P<0.001).Compared with the vitamin D-deficient group,the vitamin D-sufficient group exhibited significantly lower SII levels(β=-78.42,95%CI:-137.90 to-18.93,P=0.01).Furthermore,the restricted cubic spline model indicated a nonlinear dose-response relationship between vita-min D levels and SII(P<0.001).Conclusion There is a significant inverse correlation between plasma vitamin D levels and the SII in patients with type 2 diabetes.

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.

Standardised emergency management protocols for hand injury in microsurgery is critical, as it directly determines ultimate clinical outcomes. This consensus consolidates expert insights regarding diagnostic and treatment procedure for hand injury in microsurgery, emergency support protocols and key points of emergency workflow optimisation. It summarises the opinions of experts and puts forward standardised recommendations to guide clinical practice in microsurgical treatment process, so as to further improve the quality of treatment for hand injury in microsurgery and maximise the protection of limb function and quality of life of patients.

[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.

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.

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.