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

This is a case report of bilateral Gustilo ⅢC fracture with tibial defects in both legs and combined with defects of soft tissue. The injury was treated by emergency surgery in November 2021 in the Hand and Foot Microsurgery Hospital, Xi'an Fengcheng Hospital. It was found that annular avulsion injury with partial defect of soft tissue in left leg from under the knee to ankle (10.0 cm × 4.0 cm, 14.0 cm × 8.0 cm), distal tibia-fibula fractures and partial bone defect of tibia (6.0 cm), anterior tibial artery and posterior tibial artery rupture, and posterior tibial nerve and foot were both intact. Of the right leg, it was found that there was an annular avulsion injury with partial defect of soft tissue between 1/3 of proximal leg and above ankle (25.0 cm × 10.0 cm), distal tibia-fibula fractures and partial tibial defect (4.0 cm), anterior tibial artery was ruptured and the posterior tibial artery was embolised, but posterior tibial nerve and foot were both intact. There was no blood supply in both feet. A chimeric fibular flap of right peroneal artery (15.0 cm × 6.0 cm, and the excised fibula was 13.0 cm long) was harvested and further divided into 2 chimeric flaps for reconstruction of the defects of bilateral tibia and soft tissue. A chimeric flap pedicled with descending branch of left lateral circumflex femoral artery (29.0 cm × 8.0 cm) was harvested and further divided into 2 chimeric tissue flaps pedicled with the descending branch of lateral circumflex femoral artery to cover the remaining wounds of both calves. The proximal peroneal artery was anastomosed with anterior tibial artery, and the distal peroneal artery was anastomosed with the lateral circumflex femoral artery carried by chimeric flap, and bilateral posterior tibial arteries were bridge anastomosed with the great saphenous veins. All patients were entered in the scheduled follow-up at 4, 8 and 12 weeks after surgery. The walking and the movement of ankles and toes were gradually recovered. At 1 year after surgery, the patient was able to get of the bed by himself. Plantar sensation regained to S 4 and there was a slight limb in walking, but without pain, wear or ulceration in feet.

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.

This is a case report of bilateral Gustilo ⅢC fracture with tibial defects in both legs and combined with defects of soft tissue. The injury was treated by emergency surgery in November 2021 in the Hand and Foot Microsurgery Hospital, Xi'an Fengcheng Hospital. It was found that annular avulsion injury with partial defect of soft tissue in left leg from under the knee to ankle (10.0 cm × 4.0 cm, 14.0 cm × 8.0 cm), distal tibia-fibula fractures and partial bone defect of tibia (6.0 cm), anterior tibial artery and posterior tibial artery rupture, and posterior tibial nerve and foot were both intact. Of the right leg, it was found that there was an annular avulsion injury with partial defect of soft tissue between 1/3 of proximal leg and above ankle (25.0 cm × 10.0 cm), distal tibia-fibula fractures and partial tibial defect (4.0 cm), anterior tibial artery was ruptured and the posterior tibial artery was embolised, but posterior tibial nerve and foot were both intact. There was no blood supply in both feet. A chimeric fibular flap of right peroneal artery (15.0 cm × 6.0 cm, and the excised fibula was 13.0 cm long) was harvested and further divided into 2 chimeric flaps for reconstruction of the defects of bilateral tibia and soft tissue. A chimeric flap pedicled with descending branch of left lateral circumflex femoral artery (29.0 cm × 8.0 cm) was harvested and further divided into 2 chimeric tissue flaps pedicled with the descending branch of lateral circumflex femoral artery to cover the remaining wounds of both calves. The proximal peroneal artery was anastomosed with anterior tibial artery, and the distal peroneal artery was anastomosed with the lateral circumflex femoral artery carried by chimeric flap, and bilateral posterior tibial arteries were bridge anastomosed with the great saphenous veins. All patients were entered in the scheduled follow-up at 4, 8 and 12 weeks after surgery. The walking and the movement of ankles and toes were gradually recovered. At 1 year after surgery, the patient was able to get of the bed by himself. Plantar sensation regained to S 4 and there was a slight limb in walking, but without pain, wear or ulceration in feet.

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 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 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.

Objective To explore the situation of impaired cardiac microcirculatory perfusion,left ventricular remodeling and myocardial fibrosis in patients with essential hypertension(abbreviated as hypertension)and their clinical significance.Methods Eighty patients with hypertension were selected as hypertension group,and another 80 healthy individuals who underwent physical examina-tions during the same period were selected as control group.Based on the severity of hypertension,patients in the hypertension group were divided into low-risk group and moderate-to-high-risk group.The indicators of impaired cardiac microcirculatory perfusion[left ventricular myocardial blood flow(MBF),right ventricular MBF,coronary flowreserve(CFR)],left ventricular remodeling[left ventricular ejection fraction(LVEF),left ventricular end-diastolic volume(LVEDV),left ventricular end-systolic volume(LVESV)]and myocardial fibrosis[left ventricular isovolumic relaxation time(IVRT),the ratio of the peak velocity of E wave to A wave in the diastolic blood flow spectrum of the mitral valve orifice(E/A),type Ⅰ procollagen carboxy-terminal peptide(P Ⅰ CP),type Ⅲprocollagen amino-terminal peptide(PC Ⅲ)]were compared between the control group and the hy-pertension group.Pearson's correlation coefficient method was used for correlation analysis.The differences in the above-mentioned indicators among different risk groups were compared.Receiver operating characteristic(ROC)curves were drawn to evaluate the diagnostic efficacy of impaired cardiac microcirculatory perfusion,left ventricular remodeling and myocardial fibrosis for the severity of hypertension.Results In the hypertension group,left ventricular MBF,right ventricular MBF and CFR were all lower than those in the control group,LVEDV and LVESV were larger than those in the control group,LVEF was lower than that in the control group,IVRT was longer than that in the control group,the levels of P Ⅰ CP and PC Ⅲ were higher than those in the control group,and E/A was lower than that in the control group(P＜0.05).The results of Pearson's correlation coef-ficient analysis showed that LVEF was positively correlated with CFR and E/A,and negatively cor-related with IVRT and PC Ⅲ;LVEDV was positively correlated with CFR,IVRT,P Ⅰ CP and PCⅢ;LVESV was positively correlated with IVRT,P Ⅰ CP and PC Ⅲ,and negatively correlated with E/A;left ventricular MBF was positively correlated with CFR and E/A,and negatively correlated with IVRT,P Ⅰ CP and PC Ⅲ;right ventricular MBF was positively correlated with CFR and E/A,and negatively correlated with IVRT,P Ⅰ CP and PC Ⅲ.In the moderate-to-high-risk group,IVRT was longer than that in the low-risk group,LVEDV was larger than that in the low-risk group,P ⅠCP,PC Ⅲ,E/A,LVEF,left ventricular MBF,right ventricular MBF and CFR were all lower than those in the low-risk group,and LVESV was smaller than that in the low-risk group,with statistical-ly significant differences(P＜0.05).The results of ROC curve analysis showed that the areas under the curves for diagnosing the severity of hypertension by impaired cardiac microcirculatory perfusion,left ventricular remodeling and myocardial fibrosis were 0.962,0.969 and 0.945 respectively,the sensitivities were 91.4％,97.1％and 88.6％respectively,and the specificities were 95.6％,88.9％and 93.3％respectively.Conclusion Hypertension can cause impaired cardiac microcirculatory perfusion and promote the processes of left ventricular remodeling and myocardial fibrosis.Impaired cardiac microcirculatory perfusion,left ventricular remodeling and myocardial fibrosis have good di-agnostic efficacy for the severity of hypertension.