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 develop a convenient, direct, and highly sensitive method for screening trace chemical additives in complex Chinese patent medicines, thereby addressing core technological bottlenecks in pharmaceutical analysis and quality control. Methods: A brush ionization probe device was independently designed and constructed, and an efficient detection method was established through systematic optimization of key parameters. Twenty-three Chinese patent medicine samples, representing 6 dosage forms (capsules, tablets, pills, granules, powders, and liquid preparations), were analyzed using 10 common chemical additives as target analytes. Results: All samples were successfully analyzed without complex pretreatment, and 5 chemical additives were detected in 7 Chinese patent medicines. The brush ionization probe device exhibited cost-effectiveness (~0.2 USD per probe), operational simplicity, rapid analysis (~10s per sample), high efficiency, and minimal reagent consumption (~10 μL per sample). Conclusion: This advancement is expected to provide an innovative scientific tool for improving the generality and convenience of on-site quality control, while promoting technological progress in disciplines such as pharmacology and traditional Chinese medicine.

ObjectiveTo prepare a recombinant PETase with a dual-catalytic-triad and to evaluate its efficiency in the biodegradation of polyethylene terephthalate （PET）. MethodsBased on the crystal structure of wild-type PETase， point mutations （T88H/L117D） were introduced via site-directed mutagenesis. The recombinant protein was prepared using prokaryotic expression and chromatography purification techniques. The enzymatic hydrolysis of the mutant PETase was assessed by relatively quantifying the products mono （2-hydroxyethyl） terephthalate （MHET） and terephthalic acid （TPA）. ResultsBoth wild-type and mutant PETases accumulated as inclusion bodies， accounting for approximately 20% of the total bacterial protein. After solubilization in urea， the proteins were eluted at 300 mmol/L imidazole during affinity chromatography purification， with concentrations of 1.824 and 1.833 mg/mL and purities of 83.11% and 84.32%， respectively. Subsequent anion-exchange chromatography yielded highly pure enzymes in the 200 mmol/L NaCl fraction： 2.776 mg/mL （96.86% purity） for the wild type and 1.967 mg/mL （95.13% purity） for the mutant. Following refolding， the final concentrations were 0.484 mg/mL for the wild type and 0.991 mg/mL for the mutant. Hydrolysis assays revealed that the mutant released MHET and TPA at （237.67±17.00）% and （197.33±12.01）% of the wild-type levels， respectively. ConclusionThe T88H/L117D dual-catalytic-triad PETase is successfully prepared and it significantly enhanced PET-degrading activity， thus， it′s a promising biocatalyst for PET bioremediation.

ObjectiveThis paper aims to observe the syndrome improvement and negative antigen conversion rate of Qingxuan Daozhi formula in the treatment of influenza in children （heat accumulation in the lung and stomach syndrome）. MethodsThrough a multi-center randomized controlled methodology design，confirmed influenza cases were collected from October 2022 to April 2023 in the pediatrics department of eight hospitals，such as Dongfang Hospital of Beijing University of Chinese Medicine. A total of 180 children with influenza and heat accumulation in the lung and stomach syndrome conforming to the standard were recruited through the clinic. The sick children meeting the inclusion criteria were randomly divided into groups by a block-randomized method. The children in the experimental group were treated with Qingxuan Daozhi formula for five days，and those in the control group were treated with Oseltamivir Phosphate Granules for five days. The primary efficacy indicator was the negative conversion rate of influenza antigen detection. Secondary efficacy indicators were the Canadian acute respiratory illness and flu scale （CARIFS） and the incidence of complications，severe cases， and critical cases. Follow-up observation was conducted on the day of enrollment，48 hours after medication，72 hours after medication， and （6+1） d after medication. ResultsOne hundred and eighty participants were randomly assigned to the experimental group （90 cases） or the control group （90 cases）. All participants were followed up during the study. Comparison of influenza antigen detection results in the primary efficacy indicators showed that the average time of negative influenza antigen conversion in the experimental group was （5.29±1.25） d，and that in the control group was （5.40±1.68） d，without a statistically significant difference. After five days of intervention，52 cases in the experimental group and 51 cases in the control group converted to negative，without a statistically significant difference. CARIFS score results in the secondary efficacy indicators showed that during 72 hours after intervention，there were statistically significant differences between the experimental group and the control group in three dimensions， including headache，muscle soreness， and the need for extra care （P<0.05）. On the （6+1） days after the intervention，the differences in both the experimental group and the control group were statistically significant in 10 dimensions， including sore throat，bad sleep，uncomfortable feeling，poor spirit and fatigue，crying more than usual，the need for extra care，symptom，function，influence on parents，and total score （P<0.05）. The comparison results within the group in the dimensional scores of symptom， function， and influence on parents，as well as the CARIFS total score showed that with the delay of follow-up time，scores of both groups decreased significantly，with a statistically significant difference （P<0.01）. Inter-group comparison results showed that the mean score of the experimental group was higher than that of the control group at the time of enrollment. With the progress of intervention，the score of the experimental group was significantly decreased compared with that of the control group. At the end of follow-up，the mean score of the experimental group was lower than that of the control group，with no statistically significant difference. In terms of the incidence of complications，severe cases， and critical cases， there were no complications，severe cases， and critical cases in the two groups，without a statistically significant difference. ConclusionThe symptom improvement effect and negative antigen conversion rate of Qingxuan Daozhi formula in the treatment of influenza in children （heat accumulation in the lung and stomach syndrome） are not inferior to Oseltamivir Phosphate granules， and children's acceptance is better. It can be more widely used in clinical treatment of influenza in children （heat accumulation in the lung and stomach syndrome）.

Reproductive system diseases are among the primary contributors to the decline in social fertility rates and the intensification of aging, posing significant threats to both physical and mental health, as well as quality of life. Recent research has revealed the substantial potential of the gut microbiota in improving reproductive system diseases. Under healthy conditions, the gut microbiota maintains a dynamic balance, whereas dysfunction can trigger immune-inflammatory responses, metabolic disorders, and other issues, subsequently leading to reproductive system diseases through the gut-gonadal axis. Reproductive diseases, in turn, can exacerbate gut microbiota imbalance. This article reviews the impact of the gut microbiota and its metabolites on both male and female reproductive systems, analyzing changes in typical gut microorganisms and their metabolites related to reproductive function. The composition, diversity, and metabolites of gut bacteria, such as Bacteroides, Prevotella, and Firmicutes, including short-chain fatty acids, 5-hydroxytryptamine, γ-aminobutyric acid, and bile acids, are closely linked to reproductive function. As reproductive diseases develop, intestinal immune function typically undergoes changes, and the expression levels of immune-related factors, such as Toll-like receptors and inflammatory cytokines (including IL-6, TNF-α, and TGF-β), also vary. The gut microbiota and its metabolites influence reproductive hormones such as estrogen, luteinizing hormone, and testosterone, thereby affecting folliculogenesis and spermatogenesis. Additionally, the metabolism and absorption of vitamins can also impact spermatogenesis through the gut-testis axis. As the relationship between the gut microbiota and reproductive diseases becomes clearer, targeted regulation of the gut microbiota can be employed to address reproductive system issues in both humans and animals. This article discusses the regulation of the gut microbiota and intestinal immune function through microecological preparations, fecal microbiota transplantation, and drug therapy to treat reproductive diseases. Microbial preparations and drug therapy can help maintain the intestinal barrier and reduce chronic inflammation. Fecal microbiota transplantation involves transferring feces from healthy individuals into the recipient’s intestine, enhancing mucosal integrity and increasing microbial diversity. This article also delves into the underlying mechanisms by which the gut microbiota influences reproductive capacity through the gut-gonadal axis and explores the latest research in diagnosing and treating reproductive diseases using gut microbiota. The goal is to restore reproductive capacity by targeting the regulation of the gut microbiota. While the gut microbiota holds promise as a therapeutic target for reproductive diseases, several challenges remain. First, research on the association between gut microbiota and reproductive diseases is insufficient to establish a clear causal relationship, which is essential for proposing effective therapeutic methods targeting the gut microbiota. Second, although gut microbiota metabolites can influence lipid, glucose, and hormone synthesis and metabolism via various signaling pathways—thereby indirectly affecting ovarian and testicular function—more in-depth research is required to understand the direct effects of these metabolites on germ cells or granulosa cells. Lastly, the specific efficacy of gut microbiota in treating reproductive diseases is influenced by multiple factors, necessitating further mechanistic research and clinical studies to validate and optimize treatment regimens.

This study analyzed the practical experience of the World Health Organization,the European Union,the United States,and Japan,to reveal the characteristics of health emergency drills in terms of institutional construction,technological integration,and international collaboration.The health emergency drills present three major development trends:paradigm shift driven by social demand,efficiency improvement empowered by intelligent technology,and deepening international cooperation under the global governance framework.In response to the construction needs of China's public health emergency system,policy recommendations were proposed to establish a hierarchical classification system,a full-cycle training strategy for major infectious diseases,a dual wheel drive mechanism by both techniques and qualified personnel,and a path for global governance participation.

The 2024 National Education Work Conference pointed out that at the current juncture of the critical period for achieving the goals and tasks of the 14th Five-Year Plan,the implementation of the Education Powerhouse Construction Plan Outline should be taken as the main line of work,and building first-class disciplines is an crucial task for a higher education powerhouse.In 2022,forensic medicine was officially listed as a first-level discipline under the medical category,presenting an un-precedented historical opportunity for the development of forensic medicine.The forensic medicine dis-cipline of Southern Medical University comprehensively improves the quality of talent cultivation and facilitates the construction of first-class disciplines as its main direction.It aims to initiate and imple-ment a high-level faculty team building plan featuring"combining recruitment and cultivation,inter-disciplinary integration";make vigorous efforts to establish a first-level doctoral program,refine advan-tageous second-level disciplines and research directions;and establish an innovative research platform from a high starting point with deep integration.The discipline adheres to moral cultivation and the Five Domains of Education simultaneous development,to build a high-quality talent joint training model.Guided by the construction of the national legal system and industry needs,the discipline will enhance social service capabilities.The forensic medicine construction in our university will continue to contribute to the rule of law in China and educational power.

Objective To study the inhibitory effect of secondary metabolites of Pseudomonas aeruginosa(PA)on Candida albicans(CA)and to explore some of the mechanisms.Methods PA and CA strains were i-solated from clinical specimens from the hospital.Then,PA strains with inhibitory effects on CA were screened through cross-line test and co-incubation test,and crude extracts of PA secondary metabolites were prepared,and were tested together with pyocyanin,phenazine-1-carboxylic acid,1-hydroxyphenazine,and 3-ox-ododecyl-l-homoserine lactone(3-oxo-HSL).The inhibitory effects of various PA secondary metabolites on CA were determined through minimum inhibitory concentration test,minimum bactericidal concentration test,time-sterilization curve measurement,and XTT method activity measurement test,and some mechanisms by which PA secondary metabolites inhibited CA were explored.Results The strongest inhibitory effect on CA was 1-hydroxyphenazine,and at a concentration of 6.250 μg/mL,the relative activity of CA decreased to 0.00%.Next were pyocyanin and PA crude extract,and the relative fungal activity of CA decreased to 0.00%at concentrations of 200 and 100 μg/mL.1-hydroxyphenazine,pyocyanin,3-oxo-HSL and PA crude extract all had inhibitory effects on the formation of CA hyphae.Reactive oxygen species(ROS)were generated in CA cells treated with 1-hydroxyphenazine,phenazine 1-carboxylic acid,pyocyanin,and PA crude extract,and the highest levels of ROS were induced by pyocyanin and 1-hydroxyphenazine.Conclusion Phenazine secondary metabolites 1-hydroxyphenazine and pyocyanin have significant inhibitory effects on the growth and activity of CA,and both induce the highest amount of ROS.The quorum-sensing signal molecule 3-oxo-HSL have no in-hibitory effect on CA growth,but have a significant inhibitory effect on the formation of fungal hyphae.

Objective:To explore whether perioperative oral probiotic therapy reduces infectious complications following pancreaticoduodenectomy (PD), aiming to obtain higher-level evidence for clinical practice.Methods:A total of 81 participants undergoing PD at the Department of Pancreatic and Metabolic Surgery, Nanjing Drum Tower Hospital & Affiliated Hospital of Medical School, Nanjing University, from May 2024 to December 2024 were enrolled in this single-center, prospective, randomized controlled trial. The participants were randomly divided into a probiotic treatment group and a control group (receiving conventional treatment without probiotics) using a random number method. The primary outcomes included the incidence of postoperative infectious complications and intra-abdominal infection, and the secondary outcomes were the recovery of gastrointestinal function, postoperative hospital stay, and duration and costs of antibiotic use. The hematological indicators including inflammation and immune markers on postoperative days (POD) 1, 3, 5, and 7 were also compared between these two groups.Results:Finally 72 cases (39 males and 33 females) were analyzed, with 36 patients in the probiotic treatment group and 36 patients in the control group. Compared to the control group, the probiotic treatment group showed statistically significant reductions in the incidence of infectious complications (33.3% vs. 66.7%, P=0.029), intra-abdominal infection (27.8% vs. 58.3%, P=0.030), and incidence of delayed gastric emptying (0 vs. 16.7%, P=0.033). Also, the probiotic treatment group exhibited significantly faster recovery in postoperative bowel movements and shorter time to defecation, liquid diet, and semi-liquid diet (all P<0.05). Additionally, the probiotic treatment group had significantly shorter hospital stay, reduced duration of antibiotic use, and lower antibiotic costs (all P<0.05). Finally, the probiotic treatment group had significantly higher lymphocyte counts on POD 1 ( P<0.05) and showed a significant downward trend in inflammatory markers such as interleukin-6 on PODs 3 and 5 and C-reactive protein on POD 7 (all P<0.05). Conclusions:Perioperative application of probiotic preparations in PD may reduce the incidence of postoperative infectious complications, especially intra-abdominal infection. Additionally, it can prevent delayed gastric emptying, promote the recovery of postoperative gastrointestinal function, shorten hospital stay, and reduce the use of antibiotics. These benefits may be related to the improvement of postoperative inflammatory status.

Objective:To analyze the prevalence and risk factors of blindness and moderate to severe visual impairment among Han and Kazakh residents aged 50 years and older in Tacheng City, Xinjiang Uygur Autonomous Region.Methods:This study is a cross-sectional survey conducted using cluster random sampling from October 2015 to June 2018 in Emin County, Tacheng City, Xinjiang Uygur Autonomous Region. The study included individuals aged 50 years and older to survey blindness and moderate to severe visual impairment. Ophthalmological examinations combined with questionnaires were conducted to gather basic information. The data collected from the questionnaires included general demographic information and health conditions. The results of the eye examinations were used to diagnose a total of 12 risk factors including cataracts, glaucoma, pterygium, suspected glaucoma, glaucoma, and refractive errors. These risk factors were analyzed in relation to blindness and moderate to severe visual impairment. Univariate analysis was conducted first, followed by logistic regression to identify the significant factors.Results:A total of 2 114 patients were included in the final analysis, among which the prevalence of moderate to severe visual impairment was 18.54% (392/2 114), and the prevalence of blindness was 2.74% (58/2 114). Univariate analysis showed that blindness and moderate to severe visual impairment were associated with age ( χ2 = 32.97, P < 0.05), hypertension ( χ2 = 3.48, P < 0.05), age-related cataract ( χ2 = 17.43, P < 0.05), glaucoma ( χ2 = 3.90, P < 0.05), macular degeneration ( χ2 = 16.04, P < 0.05), diabetes ( χ2 = 3.09, P < 0.05), pterygium ( χ2 = 2.57, P < 0.05), and fundus arteriosclerosis ( χ2 = 2.31, P < 0.05). Multivariate logistic regression analysis indicated that moderate to severe visual impairment was correlated with age (50 to < 60 years: OR = 2.91, 95% CI: 0.44-13.45; 60 to < 70 years: OR = 3.52, 95% CI: 0.73-8.77; 70 to < 80 years: OR = 4.31, 95% CI: 0.85-8.96), ethnicity ( OR = 4.45, 95% CI: 0.56-5.95), sex ( OR = 0.47, 95% CI: 0.34-0.64), age-related cataract ( OR = 1.67, 95% CI: 1.05-2.65), glaucoma ( OR = 2.97, 95% CI: 1.67-5.30), and coronary heart disease ( OR = 2.56, P < 0.05). Blindness was correlated with age (70-79 years: OR = 1.54, 95% CI: 1.12-2.11), sex ( OR = 0.67, 95% CI: 0.34-0.64), glaucoma ( OR = 1.65, 95% CI: 0.42-6.49), diabetes ( OR = 2.05, 95% CI: 1.35-3.09), and coronary heart disease ( OR = 1.92, 95% CI: 1.07-3.43). Among these, age (70-79 years), glaucoma, diabetes, and coronary heart disease were identified as risk factors for blindness, while sex was observed as a protective factor against blindness in this region. Based on univariate and multivariate analyses as well as clinical practice, it was concluded that age (50 to < 60 years: OR = 4.42, 95% CI: 1.31-14.92; 60 to < 70 years: OR = 4.49, 95% CI: 1.70-11.84; 70 to < 80 years: OR = 3.19, 95% CI: 1.29-7.87), age-related cataract ( OR = 1.67, 95% CI: 1.05-2.65), and glaucoma ( OR = 2.97, 95% CI: 1.67-5.30) were identified as significant risk factors for moderate to severe visual impairment. Glaucoma ( OR = 1.65, 95% CI: 0.42-6.49) and diabetes ( OR = 2.05, 95% CI: 1.35-3.09) were identified as the main risk factors for blindness in this region (both P < 0.05). Conclusions:In Tacheng City, Xinjiang Uygur Autonomous Region, the prevalence rates of moderate to severe visual impairment and blindness among Han and Kazakh residents are relatively high. Age-related cataracts and glaucoma are the primary causes, while age and diabetes are the main risk factors.