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 explore the association between oral health status, the lower respiratory tract microbiome, and the frequent acute exacerbation phenotype in chronic obstructive pulmonary disease (COPD).Methods:This cross-sectional study enrolled 39 patients with acute exacerbation of chronic obstructive pulmonary disease (AECOPD) hospitalized in the Department of Respiratory Medicine, Henan Provincial People′s Hospital between March 2021 and December 2022. Based on the number of hospitalization episodes for acute exacerbation in the past year, patients were divided into a frequent exacerbator group (≥2 times, n=28) and a non-frequent exacerbator group (<2 times, n=11). Bronchoalveolar lavage fluid (BALF) samples were collected from all subjects for metagenomic next-generation sequencing (mNGS). Oral health indicators and clinical data were also collected. Statistical analyses were performed using Spearman correlation analysis and multivariable Firth logistic regression analysis. Results:The frequent exacerbation group showed a significantly higher percentage of individuals with≥8 tooth loss compared to the non-frequent exacerbation group (96.4% vs 18.2%, P<0.001), a significantly younger age at first tooth loss in adulthood (53.96±7.30 years vs 62.10±5.80 years, P=0.003), and a significantly higher proportion of individuals who hardly brushed their teeth (50.00% vs 9.09%, P=0.038). The alpha-diversity indices of the lower respiratory tract microbiota were significantly lower in the frequent exacerbation group than in the non-frequent exacerbation group (all P<0.01). The relative abundances of Bacillota, Bacteroidota, Fusobacteriota, Streptococcus, Prevotella, Veillonella, Neisseria, Rothia, Prevotellamelaninogenica, Prevotellajejuni, Rothia mucilaginosa, Veillonella parvula, and Neisseria subflava were lower in the frequent exacerbation group (all P<0.05). In patients with AECOPD, the exacerbation frequency and the presence of ≥8 tooth loss were both negatively correlated with the Shannon index ( r=-0.854, P<0.001; r=-0.642, P<0.001, respectively). Further analysis revealed that Bacillota ( r=-0.862, P<0.001) and Streptococcus ( r=-0.814, P<0.001) were significantly negatively correlated with exacerbation frequency, while Pseudomonas was positively correlated with exacerbation frequency (all P<0.05). Bacillota ( r=0.369, P=0.021), Fusobacteriota ( r=0.368, P=0.021), and Veillonella ( r=0.379, P=0.017) were positively correlated with FEV 1% predicted. Multivariable Firth logistic regression analysis revealed that the first principal component of the microbial community ( OR=2.29, 95% CI: 1.20-11.07) and the loss of≥8 teeth ( OR=14.37, 95% CI: 1.42-482.51) were independent factors associated with frequent acute exacerbations. Conclusion:Frequent acute exacerbations of COPD are significant association with deteriorated oral health and dysbiosis of the lower respiratory tract microbiome, characterized by reduced alpha-diversity and depletion of commensal bacteria.

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.

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.

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.

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 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.

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 explore the association between oral health status, the lower respiratory tract microbiome, and the frequent acute exacerbation phenotype in chronic obstructive pulmonary disease (COPD).Methods:This cross-sectional study enrolled 39 patients with acute exacerbation of chronic obstructive pulmonary disease (AECOPD) hospitalized in the Department of Respiratory Medicine, Henan Provincial People′s Hospital between March 2021 and December 2022. Based on the number of hospitalization episodes for acute exacerbation in the past year, patients were divided into a frequent exacerbator group (≥2 times, n=28) and a non-frequent exacerbator group (<2 times, n=11). Bronchoalveolar lavage fluid (BALF) samples were collected from all subjects for metagenomic next-generation sequencing (mNGS). Oral health indicators and clinical data were also collected. Statistical analyses were performed using Spearman correlation analysis and multivariable Firth logistic regression analysis. Results:The frequent exacerbation group showed a significantly higher percentage of individuals with≥8 tooth loss compared to the non-frequent exacerbation group (96.4% vs 18.2%, P<0.001), a significantly younger age at first tooth loss in adulthood (53.96±7.30 years vs 62.10±5.80 years, P=0.003), and a significantly higher proportion of individuals who hardly brushed their teeth (50.00% vs 9.09%, P=0.038). The alpha-diversity indices of the lower respiratory tract microbiota were significantly lower in the frequent exacerbation group than in the non-frequent exacerbation group (all P<0.01). The relative abundances of Bacillota, Bacteroidota, Fusobacteriota, Streptococcus, Prevotella, Veillonella, Neisseria, Rothia, Prevotellamelaninogenica, Prevotellajejuni, Rothia mucilaginosa, Veillonella parvula, and Neisseria subflava were lower in the frequent exacerbation group (all P<0.05). In patients with AECOPD, the exacerbation frequency and the presence of ≥8 tooth loss were both negatively correlated with the Shannon index ( r=-0.854, P<0.001; r=-0.642, P<0.001, respectively). Further analysis revealed that Bacillota ( r=-0.862, P<0.001) and Streptococcus ( r=-0.814, P<0.001) were significantly negatively correlated with exacerbation frequency, while Pseudomonas was positively correlated with exacerbation frequency (all P<0.05). Bacillota ( r=0.369, P=0.021), Fusobacteriota ( r=0.368, P=0.021), and Veillonella ( r=0.379, P=0.017) were positively correlated with FEV 1% predicted. Multivariable Firth logistic regression analysis revealed that the first principal component of the microbial community ( OR=2.29, 95% CI: 1.20-11.07) and the loss of≥8 teeth ( OR=14.37, 95% CI: 1.42-482.51) were independent factors associated with frequent acute exacerbations. Conclusion:Frequent acute exacerbations of COPD are significant association with deteriorated oral health and dysbiosis of the lower respiratory tract microbiome, characterized by reduced alpha-diversity and depletion of commensal bacteria.

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.