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:Some studies have shown that physical exercise can effectively improve knee extensor strength and cardiorespiratory function in burn patients;some studies have also shown that physical exercise is not effective in improving respiratory function in burn patients.Improvement effects of physical exercise on physical functions(muscle function,walking function,cardiopulmonary function,and lean body mass)of burn patients were evaluated by a systematic evaluation and meta-analysis.METHODS:Based on databases including Web of Science,PubMed,Embase,Cochrane Library,CNKI,WanFang,and the Chinese Biomedical Database,literature on the improvement of physical function in burn patients through physical exercise was searched using subject headings and free terms.With muscle function,walking ability,cardiopulmonary function,and lean body mass as the primary outcome measures,a meta-analysis was conducted to compare the efficacy of physical exercise with traditional physical therapy or conventional care methods.RESULTS:A total of 38 papers were included,of which 26 papers were included in the meta-analysis,involving 1 658 patients.Meta-analysis results showed that:(1)Physical exercise significantly enhances the knee extensor strength of the dominant leg in burn patients(mean difference[MD]=8.34,95％confidence interval[CI]:6.95-9.72,P＜0.000 01),increases quadriceps strength,peak oxygen uptake,forced vital capacity and maximum ventilation volume in 1 second,and resting heart rate(standardized mean difference[SMD]=4.41,95％CI:2.52-6.30,P＜0.000 01;MD=4.91,95％CI:3.52-6.29,P＜0.000 01;MD=5.86,95％CI:0.09-11.63,P=0.05;MD=6.90,95％CI:2.93-10.87,P=0.000 7;MD=5.03,95％CI:1.45-8.61,P=0.006),and improves the 6-minute walking distance,gait parameters,and total lean body mass(MD=45.29,95％CI:24.7-65.89,P＜0.0001;SMD=7.84,95％CI:6.05-9.63,P＜0.000 01;MD=2.47,95％CI:2.01-2.93,P＜0.000 01).(2)The subgroup analysis results indicated that the improvement in knee extensor strength of the dominant leg may be better in children than in adults and better in the extra-heavy group than in the heavy group.Improvement in the 6-minute walking distance is better in children than in adults,and higher degree of burn indicates better improvement effects,with no difference from the control group for＜12 weeks.Peak oxygen uptake may be better in adults and severe burn groups than in children and moderate burn groups,resistance combined with aerobic exercise modalities may be better than aerobic exercise alone,and exercise duration＞60 minutes may be better than＜60 minutes.CONCLUSION:Physical activity is effective in improving physical function in burn patients,as evidenced by improvements in muscle strength,walking ability,cardiorespiratory fitness,and lean body mass.The quality of evidence recommended for all indicator results is moderate or below,with imprecision and inconsistency being the main factors for downgrading.Therefore,more high-quality randomized controlled trials are needed in the future to verify the reliability of the results.

OBJECTIVE:Some studies have shown that physical exercise can effectively improve knee extensor strength and cardiorespiratory function in burn patients;some studies have also shown that physical exercise is not effective in improving respiratory function in burn patients.Improvement effects of physical exercise on physical functions(muscle function,walking function,cardiopulmonary function,and lean body mass)of burn patients were evaluated by a systematic evaluation and meta-analysis.METHODS:Based on databases including Web of Science,PubMed,Embase,Cochrane Library,CNKI,WanFang,and the Chinese Biomedical Database,literature on the improvement of physical function in burn patients through physical exercise was searched using subject headings and free terms.With muscle function,walking ability,cardiopulmonary function,and lean body mass as the primary outcome measures,a meta-analysis was conducted to compare the efficacy of physical exercise with traditional physical therapy or conventional care methods.RESULTS:A total of 38 papers were included,of which 26 papers were included in the meta-analysis,involving 1 658 patients.Meta-analysis results showed that:(1)Physical exercise significantly enhances the knee extensor strength of the dominant leg in burn patients(mean difference[MD]=8.34,95％confidence interval[CI]:6.95-9.72,P＜0.000 01),increases quadriceps strength,peak oxygen uptake,forced vital capacity and maximum ventilation volume in 1 second,and resting heart rate(standardized mean difference[SMD]=4.41,95％CI:2.52-6.30,P＜0.000 01;MD=4.91,95％CI:3.52-6.29,P＜0.000 01;MD=5.86,95％CI:0.09-11.63,P=0.05;MD=6.90,95％CI:2.93-10.87,P=0.000 7;MD=5.03,95％CI:1.45-8.61,P=0.006),and improves the 6-minute walking distance,gait parameters,and total lean body mass(MD=45.29,95％CI:24.7-65.89,P＜0.0001;SMD=7.84,95％CI:6.05-9.63,P＜0.000 01;MD=2.47,95％CI:2.01-2.93,P＜0.000 01).(2)The subgroup analysis results indicated that the improvement in knee extensor strength of the dominant leg may be better in children than in adults and better in the extra-heavy group than in the heavy group.Improvement in the 6-minute walking distance is better in children than in adults,and higher degree of burn indicates better improvement effects,with no difference from the control group for＜12 weeks.Peak oxygen uptake may be better in adults and severe burn groups than in children and moderate burn groups,resistance combined with aerobic exercise modalities may be better than aerobic exercise alone,and exercise duration＞60 minutes may be better than＜60 minutes.CONCLUSION:Physical activity is effective in improving physical function in burn patients,as evidenced by improvements in muscle strength,walking ability,cardiorespiratory fitness,and lean body mass.The quality of evidence recommended for all indicator results is moderate or below,with imprecision and inconsistency being the main factors for downgrading.Therefore,more high-quality randomized controlled trials are needed in the future to verify the reliability of the results.

This study explores the role and related molecular mechanism of Tianxiangdan (TXD) Capsules in ameliorating atherosclerosis (AS) by regulating GPER (G protein-coupled estrogen receptor) to inhibit NLRP3 inflammasome-mediated pyroptosis. Eight ApoE-/- mice were randomly selected and fed a normal diet as a blank control group, while the remaining ApoE-/- mice were induced with a high-fat diet to establish an atherosclerosis model. These mice were randomly divided into the following groups: model group, atorvastatin intervention group (3.03 mg/kg), TXD Capsules high-dose group (1.092 g/kg), medium-dose TXD group (0.546 g/kg), low-dose TXD group (0.273 g/kg), and medium-dose TXD plus GPER inhibitor (1 mg/kg) group. The effects of TXD Capsules on AS through GPER regulation and inhibition of NLRP3-mediated pyroptosis were evaluated by measuring the serum lipid profile, performing enzyme-linked immunosorbent assays, conducting histopathological analyses, and Western blot. The results showed that TXD significantly reduced serum triglyceride (TG), total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), and inflammatory cytokine levels while increasing high-density lipoprotein cholesterol (HDL-C) levels. TXD also reduced aortic plaque area and lipid deposition. In addition, TXD significantly upregulated GPER expression in aortic tissues and inhibited NLRP3 expression and pyroptosis. These effects were reversed by the GPER inhibitor. In conclusion, TXD may inhibit NLRP3 inflammasome-mediated pyroptosis by upregulating GPER expression, thereby alleviating inflammatory responses in the atherosclerotic microenvironment and exerting vasculoprotective effects.

ObjectiveTo investigate the value of prealbumin-to-total bilirubin （PA/TBil） ratio on admission in predicting 90-day mortality or liver transplantation in patients with HBV-related acute-on-chronic liver failure （HBV-ACLF）， as well as the effect of its combination with Model for End-Stage Liver Disease （MELD） score on the predictive performance for short-term prognosis. MethodsA retrospective analysis was performed for the clinical data of 216 HBV-ACLF patients who were admitted to Department of Infectious Diseases in the First Affiliated Hospital of Soochow University from April 2020 to May 2025， and the patients were followed up for 3 months. According to the outcome， the patients were divided into survival group with 104 patients and death/transplantation group with 112 patients. The Kolmogorov-Smirnov test was used to check whether the continuous data was in accordance with the normal distribution； the two-independent-samples t test was used for comparison of normally distributed continuous data between two groups， while the Mann-Whitney U test was used for comparison of continuous data with skewed distribution between two groups. The chi-square test was used for comparison of categorical data between two groups. Univariate and multivariate binary Logistic regression analyses were used to investigate the influencing factors for prognosis， and the receiver operating characteristic （ROC） curve was used to analyze the performance of each indicator in predicting the prognosis of ACLF. The area under the ROC curve （AUC） was calculated， and the Delong test was used for comparison of AUC. ResultsA total of 216 patients were enrolled in this study， with a 90-day survival rate of 48.15% （104/216）. Compared with the death/transplantation group， the survival group had significantly higher platelet count， lymphocyte count， albumin， and PA/TBil ratio （all P<0.05） and significantly lower age， white blood cell count， neutrophil count， prothrombin time， international normalized ratio， aspartate aminotransferase， total bilirubin， creatinine， and MELD score （all P<0.05）. The multivariate Logistic regression analysis showed that age （odds ratio ［OR］=1.05， 95% confidence interval ［CI］： 1.02 — 1.09， P<0.001）， PA/TBil ratio （OR=0.16， 95%CI： 0.05 — 0.46， P<0.001）， and MELD score （OR=1.09， 95%CI： 1.01 — 1.17， P=0.024） were independent influencing factors for 90-day prognosis in HBV-ACLF patients. PA/TBil ratio and MELD score used alone or in combination had an AUC of 0.760， 0.779， and 0.811， respectively， in predicting the prognosis of HBV-ACLF patients， and PA/TBil ratio combined with MELD score had a better AUC than PA/TBil ratio or MELD score used alone （Z=-2.058 and 2.017， both P<0.05）. ConclusionBoth serum PA/TBil ratio and MELD score can effectively predict the prognosis of patients with HBV-ACLF， and a combination of the two indicators had a better predictive performance than MELD score alone， which provides an important reference for clinical risk stratification management and timely intervention.

Objective: To explore the association between mediterranean diet (MD) patterns and dental caries among children and adolescents with neurodevelopmental disorders (NDD), so as to provide a basis for developing scientific anti caries strategies related to diet. Methods: From December 2021 to June 2024, a questionnaire survey, a three day 24 hour dietary review survey, oral health examination, physical development measurement and Childhood Autism Rating Scale (CARS) evaluation were conducted involving 147 children and adolescents aged 2-22 years with NDD from nine special education schools and rehabilitation institutions in Tianjin. Group comparisons were carried out using the Mann-Whitney U test, Chi-square test, or Fisher s exact probability method. The correlation between dietary quality and dental caries was analyzed by adopting multiple linear regression analysis and restricted cubic spline. Results: There were 46 children and adolescents (31.3%) in the non dental caries group and 101 children and adolescents (68.7%) in the dental caries group. The number of decayed missing and filled teeth (dmft) was 2.0 (4.0), and the MD score was 4.0 (2.0) points. There were 62 children and adolescents (42.2%) in the low MD scores group and 85 children and adolescents (57.8%) in the high MD scores group. There was no significant difference in MD scores between NDD children in the non dental caries group and those in the dental caries group [nondental caries group:4.0(2.0), dental caries group:4.0(2.0), Z= -0.14, P >0.05]. The MD scores and dmft exhibited increasing and then decreasing trend ( P total =0.02, P non lineary = 0.04 ). Children and adolescents with NDD in the MD high scores group had a lower number of dmft than those in the MD low scores group ( β= -2.00 , 95%CI =-3.39 to -0.62, P <0.05). However, in children and adolescents with NDD and CARS scores ≥30, the above association was insignificant ( β=-0.63, 95%CI=-0.29-0.15, P >0.05). Conclusion Children and adolescents with NDD who have dietary patterns similar to the Mediterranean diet, are found to have fewer dental caries, and this is observed among those with no or mild symptoms of autism spectrum disorder.

Objective: To understand the subjective and objective comfort evaluations of students from different age groups on desks and chairs, so as to provide reference for standardized allocation and use of desks and chairs. Methods: From January to April 2024, a total of 2 446 students were selected from 26 schools in 13 districts (counties/cities) in Shanghai, Tianjin, and Wuxi from Jiangsu Province by using cluster random method, including students in kindergartens, primary schools, junior high schools,senior high schools, colleges and universities. Standardized procedures were used to measure the height and weight of participants, and the matching desks and chairs models were selected according to the height. The subjective comfort of students on matching desks and chairs was investigated, and their objective comfort was evaluated by using a self designed questionnaire. The χ 2 test was used to analyze the differences of subjective perception and objective evaluation in comfort between different types of desks and chairs. Results: About 84.1% of the students subjectively thought that large desks and small chairs were very comfortable or relatively comfortable, followed by large desks and chairs (75.7%), and the proportion of small desks and chairs was the lowest among the three types (46.2%), and the difference was statistically significant ( χ 2=722.46, P <0.01). The reporting rates of primary school, junior high school and senior high school students who subjectively considered large desks and chairs to be very comfortable/relatively comfortable were higher than that of other types of desks and chairs, and the differences were statistically significant ( χ 2=297.49, 252.82, 343.67, P <0.01). However, there was no significant difference in the subjective comfort evaluation of different types of desks and chairs among kindergarten children ( χ 2=3.21, P >0.05), and 66.3% of the students in colleges and universities felt very comfortable/relatively comfortable when they used the matching standard desks and chairs. The objective evaluation results of the comfort for the three types of desks and chairs were consistent with the subjective evaluation, but the proportions of the objective evaluation as very comfortable/relatively comfortable were higher than that of the subjective evaluation ( χ 2=20.76- 813.47, P <0.01). Conclusions Large desks and chairs, as well as large desks with small chairs are perceived comfortable, while small desks and chairs are perceived less comfortable. It is recommended to match the large desks and chairs or large desks and small chairs that are suitable for them according to the "standard", to promote physical and mental health of students.

Objective: To investigate the differences in the comfort of desks and chairs furniture among students with different body types according to the standard, so as to provide a reference for guiding students with overweight and obesity to choose the correct study furniture and revising the standards. Methods: From January to April 2024, 2 443 students from 26 schools in 13 districts (counties/cities) in Shanghai, Tianjin, and Jiangsu Province were selected by the cluster random sampling method to conduct physical examination. The subjective and objective evaluations of the comfort of height matched desks and chairs were investigated. The students were divided into non overweight, overweight, and obesity groups according to relevant criteria, and stratified analysis was performed. The χ 2 test was used to analyze differences in the comfort evaluations of desks and chairs among students with different body types. Results: Among the 2 443 students surveyed, 16.7% and 12.6% were respectively classified as overweight and obese. All students assigned the highest comfort ratings to large desks and small chairs (84.1%), and consistency was observed between students subjective and objective evaluations. The reporting rate of samll desks and chairs of obesity students subjective evaluation was lower (36.8%) than that of overweight and non overweight/obesity students (52.1%, 48.0%) ( χ 2=14.63, P <0.01). The overweight and obese group of primary school students had a worse evaluation of the comfort of large desks and chairs and small desks and chairs than those of the non overweight and obese groups( χ 2=15.78, 7.63, P <0.05). Among high school students, the overweight and obese group had worse evaluation of the comfort of large desks and chairs, as well as large desks and small chairs, than those of the non-overweight and obese groups( χ 2=9.62, 11.77, P <0.05). The objective evaluations revealed low compliance ratings on the posture of the thighs and calves for naturally forming an angle greater than 90° (55.6%), and headroom height under the table (50.3%) with small desks and chairs ( χ 2=94.05, 166.47, P <0.05). Conclusions Compared with non overweight/obese students, students with overweight and obese students report poor comfort evaluations of height matched desks and chairs. Revision of the standard should consider the body types of students, and evaluations of the comfort of desks and chairs furniture by students with overweight and obesity should be improved.

Creutzfeldt-Jakob disease(CJD)is a rapidly progressive and fatal neurodegenerative disorder caused by prions,with certain infectivity and iatrogenic transmission risks.With the rapid progress and application of new dia-gnostic biomarkers and detection methods,as well as the construction and improvement of surveillance and reporting systems,the detection of CJD in patients domestically and internationally has shown an increasing trend year by year.Due to its long incubation period and heterogeneity of early symptoms,early identification and diagnosis of the disease is difficult,increasing the risk of transmission within medical institutions.Currently,there is a lack of con-sensus on the infection prevention and control of CJD.In order to timely identify and diagnose CJD as well as effec-tively block its transmission in medical institutions,this consensus summarizes 15 clinical concerns and formulates 24 specific recommendations based on the latest domestic and international research findings and clinical evidence,as well as combines with clinical practice,aiming to standardize healthcare-associated infection prevention and control measures for CJD and reduce its transmission risk in medical institutions.

The construction of smart hospitals is a critical pathway to promote the high-quality development of China′s healthcare system and an important direction for innovation in hospital managment services. In March 2022, Sir Run Run Shaw Hospital affiliated to Zhejiang University School of Medicine launched the smart hospital construction based on smart middle platforms(data platform, technology platform, and business platform), supported by technologies such as cloud computing, artificial intelligence and blockchain, focusing on data integration, business integration, intelligent services and fine management. This practice had built three major application platforms for smart services, smart healthcare, and smart management, and developed intelligent inquiry and triage systems, smart pharmacies, remote emergency systems, smart doctor assistants, smart wards, and multi center scientific research collaboration platforms based on these platforms. These applications were suitable for various scenarios. This smart hospital had promoted the upgrading and transformation of services, healthcare, and management, and achieved good results. From 2022 to 2024, the average outpatient waiting time was reduced from 60 min to 39 min, and the average inpatient length of stay decreased from 4.7 d to 4.5 d. As of March 2024, 11 5G-enabled smart wards had been deployed, significantly improving resource utilization and enhancing patient care experiences. This practice could provide a reference path for the construction of China′s smart hospital.