OBJECTIVE: To investigate the current status of clinical genetics specialization development and the diagnostic and therapeutic capabilities for hereditary diseases across medical institutions in Shanghai, and to assess the necessity and feasibility of establishing training bases for clinical genetics specialists. METHODS: By employing a cross-sectional survey design, the Clinical Genetics Committee of Shanghai Medical Association has conducted questionnaire surveys from March to April 2025 across 54 healthcare institutions in Shanghai (including 33 tertiary hospitals and 21 secondary hospitals). The survey involved administrative departments and medical personnel from 15 clinical specialties. The survey has covered current genetic disease diagnosis and treatment practices, relevant and specialised disease types, genetic department establishment, testing capabilities, personnel teams, and training requirements. RESULTS: The results revealed that 78.0% of clinical departments surveyed had treated patients with hereditary disorders. Shanghai possesses diagnostic and therapeutic expertise for over 95% of hereditary diseases listed in its rare disease catalogue, reflecting both the practical clinical demand for such conditions and the city's overall diagnostic and therapeutic strengths in this field. Nevertheless, significant disparities exist in the development of genetics departments across different tiers of healthcare institutions. Resources for genetic testing capabilities (including molecular, cellular, and biochemical testing) are also unevenly distributed across different tiers of hospitals. The survey further revealed that only 26.0% of departments believe that their current physician structure fully meets the diagnostic and treatment demands. Over 90% of departments consider standard training for clinical genetic specialists necessary, with 74.0% expressing willingness to participate in establishing training bases. Based on above findings and thorough deliberation, the Clinical Genetics Committee of the Shanghai Medical Association proposes advancing specialist training and discipline development through establishing a standard training system. The committee has drafted a three-year training protocol featuring a "joint training"-centered model, recommending a pilot-first, dynamically optimized strategy for steadily advancing training base development. CONCLUSION Shanghai faces substantial demand for genetic disease diagnosis and treatment, yet exhibits shortcomings in clinical genetics specialization development, resource allocation, and talent pipeline cultivation. To establish a standard training system holds significant practical importance and is underpinned by a broad demand.
Humans ; China ; Surveys and Questionnaires ; Genetic Diseases, Inborn/genetics* ; Cross-Sectional Studies ; Genetics, Medical/education* ; Genetic Testing

Objective To investigate the temporal changes in pathological damage and macrophage polarization in liver and spleen tissues of mice infected with Angiostrongylus cantonensis, and to preliminarily unravel the peripheral immune responses during the early stage of A. cantonensis infection. Methods Forty female BALB/c mice at ages of 6 to 8 weeks were randomly divided into four groups, including the control group and 7-, 14-, and 21-day infection groups, with 10 mice in each group. Each mouse in the infection groups was inoculated with 30 third-stage (L3) larvae of A. cantonensis by oral gavage, and five mice were randomly selected from each infection group on days 7, 14, and 21 post-infection, while mice in the control group were given the same volume of physiological saline and five mice were randomly selected from the control group on the day of oral gavage. Mouse liver and spleen tissues were sampled. The histopathological changes of mouse liver and spleen tissues were observed using hematoxylin and eosin (HE) staining, and the percentage of positive staining area and the co-localization positive rates of the macrophage surface antigens F4/80, CD86, and CD206 were quantified in mouse liver and spleen tissues using immunohistochemical and immunofluorescence staining. In addition, five mice were collected from each infection group on days 7, 14, and 21 post-infection, and five mice were collected from the control group on the day of oral gavage. Mouse liver and spleen tissues were sampled for detection of macrophage markers CD86 and CD206 and macrophage phenotyping using flow cytometry, and the expression of M1 macrophage markers, including inducible nitric oxide synthase (Nos2), tumor necrosis factor-α (TNF-α), interleukin-1β (IL-1β) and M2 markers, including arginase 1 (Arg1), mannose receptor C-type 1 (Mrc1) and chitinase-like protein 3 (Chil3) was quantified in mouse liver and spleen tissues using real-time quantitative PCR (RT-qPCR) assay. Results Proliferative lesions of the hepatocyte were observed in mouse liver tissues and the follicular structures of the mouse spleen white pulp were disrupted 21 days post-infection with A. cantonensis. Immunohistochemical staining showed that there were significant differences in the percentages of F4/80, CD86 and CD206 positive staining areas in the liver and spleen tissues among the four groups of mice (F = 242.40, 197.14, 183.19, 157.65, 242.35 and 146.24; all P values < 0.001), and the percentages of positive staining in the liver and spleen tissues of mice in the 14-day infection group [(4.45 ± 0.51)%, (3.74 ± 0.67)%, (8.32 ± 0.72)%, (16.56 ± 1.14)%, (11.62 ± 0.52)%, and (8.29 ± 0.72)%, respectively] and the 21-day infection group [(3.70 ± 0.11)%, (3.22 ± 0.43)%, (11.53 ± 1.03)%, (12.59 ± 1.05)%, (9.02 ± 0.83)%, and (11.67 ± 1.10)%, respectively] were higher than in the control group [(0.35 ± 0.16)%, (0.40 ± 0.02)%, (0.93 ± 0.05)%, (2.78 ± 0.26)%, (2.33 ± 0.20)%, and (1.85 ± 0.20)%, respectively] (all P values < 0.05). Immunofluorescence staining showed significant differences in the positive rates of F4/80 co-localization with CD86 and CD206 in mouse liver and spleen tissues among the four groups (F = 24.42, 25.28, 54.51 and 130.55; all P values < 0.001). Flow cytometry detected significant differences in the proportions of CD86⁺ and CD206⁺ macrophages in mouse liver and spleen tissues among the four groups (F = 67.98, 18.41, 29.77, 172.80; all P values < 0.001), and the proportions of CD206⁺ macrophages in the liver and spleen of the 21-day infection group were significantly higher than those in the control group [(9.25 ± 2.55)% vs (3.83 ± 0.72)%, and (4.22 ± 0.56)% vs (0.47 ± 0.18)%, respectively] (both P values < 0.05). In addition, RT-qPCR assay quantified significant differences in the relative mRNA expression of M1 macrophage markers (IL-1β, TNF-α and Nos2) and M2 macrophage markers (Arg1, Chil3 and Mrc1) in mouse liver and spleen tissues among the four groups (F = 41.30, 31.82, 199.33, 19.96, 62.01, 119.76, 23.67, 95.90, 72.27, 82.59, 123.41 and 29.75; all P values < 0.05). Conclusions A. cantonensis infection may cause progressive pathological damage in mouse liver and spleen tissues, accompanied by dynamic temporal changes in macrophage polarization. M1 macrophage polarization predominates at the early stage of A. cantonensis infection and shifts towards M2 polarization at the later stages, suggesting that M2 polarization may participate in immune regulation at late stages of A. cantonensis infection by suppressing excessive inflammatory responses and promoting tissue repair.

Background: High-mobility group box protein 1 (HMGB1) is a chromatin-binding protein involved in arthritis, ischemia, sepsis, atherosclerosis, neurodegenerative disorders, meningitis, and cancer. HMGB1 exhibits dual roles in cancer, acting as either a tumor suppressor or oncoprotein depending on context. Objective: This research aimed to elucidate HMGB1’s functional significance in cutaneous squamous cell carcinoma (cSCC). Methods: We overexpressed HMGB1 in cSCC cell lines using recombinant adenovirus and examined its effects on cell proliferation, colony formation, and cell migration. Results: Immunohistochemical analysis revealed elevated HMGB1 expression levels in cSCC tissue relative to normal epidermis. To assess the influence of HMGB1, we employed recombinant adenoviruses expressing HMGB1 to transduce SCC cell lines (SCC12 and SCC13). Enhanced HMGB1 expression significantly promoted cellular proliferation and colony formation capacity.Notably, HMGB1 overexpression elevated the levels of proliferation regulators, including P63, SOX2, CDK4 and CDK6. Furthermore, HMGB1 overexpression substantially enhanced tumor invasiveness, accompanied by upregulation of epithelial-mesenchymal transition (EMT) biomarkers. Mechanistically, overexpression of HMGB1 enhanced transforming growth factor-β signaling by increasing phosphorylation of SMAD2/3, the key mediators of EMT. Conclusion These data imply that HMGB1 acts as a tumor-promoting factor in cSCC.

Objective To examine the changing prevalence and antimicrobial resistance profiles of Burkholderia cepacia in 52 hospitals across China from 2015 to 2021.Methods A total of 9 261 strains of B.cepacia were collected from 52 hospitals between January 1,2015 and December 31,2021.Antimicrobial susceptibility of the strains was tested using Kirby-Bauer method or automated antimicrobial susceptibility testing systems according to a unified protocol.The results were interpreted according to the breakpoints released in the Clinical & Laboratory Standards Institute(CLSI)guidelines(2023 edition).Results A total of 9 261 strains of B.cepacia were isolated from all age groups,especially elderly patients.The proportion was 11.1％(1 032 strains)in children,significantly lower than the proportion in adults.About half(46.5％,4 310/9 261)of the strains were isolated from patients at least 60 years old and 42.3％(3 919/9 261)of the strains were isolated from young adults.Most isolates(71.1％)were isolated from sputum and respiratory secretions,followed by urine(10.7％)and blood samples(8.1％).B.cepacia isolates were highly susceptible to the five antimicrobial agents recommended in the CLSI M100 document(33rd edition,2023).B.cepacia isolates showed relatively higher resistance rates to meropenem and levofloxacin.However,the resistance rates to ceftazidime,trimethoprim-sulfamethoxazole,and minocycline remained below 8.1％.The percentage of B.cepacia strains resistant to levofloxacin was the highest compared to other antibiotics in any of the three age groups(from 12.4％in the patients＜18 years old to 20.6％in the patients aged 60 years or older).Conclusions B.cepacia is one of the clinically important non-fermenting gram-negative bacteria.Accurate and timely reporting of antimicrobial susceptibility test results and ongoing antimicrobial resistance surveillance are helpful for rational prescription of antimicrobial agents and proper prevention and control of nosocomial infections.

Background and Aims:Early-onset extensive emphysematous pancreatitis(EP)is a rare but highly lethal subtype of infected pancreatic necrosis(IPN),characterized by abrupt onset and rapid deterioration.This study aimed to investigate its clinical characteristics,microbiological spectrum,treatment approaches,and outcomes to provide evidence for early identification and timely intervention.Methods:A retrospective analysis was performed on 305 IPN patients treated at Xiangya Hospital,Central South University,from January 2010 to October 2023.Eight patients who developed gas accumulation involving≥50%of pancreatic or peripancreatic necrosis within two weeks of onset were defined as early-onset extensive EP.Their clinical data were compared with those of ordinary IPN patients.Results:Early-onset extensive EP accounted for 2.6%of all IPN cases.The early-onset extensive EP group had significantly higher mortality and multiple organ failure rates compared with the ordinary IPN group(75.0%vs.24.6%and 75.0%vs.34.7%,respectively;both P<0.05).A total of 15 microbial isolates were identified from early-onset extensive EP patients,predominantly Klebsiella pneumoniae(62.5%)and Escherichia coli(37.5%).The infection rate of carbapenem-resistant Enterobacteriaceae(CRE)was markedly higher in the EP group than in the ordinary IPN group(75.0%vs.31.1%,P=0.015).Most patients were treated using a step-up approach based on percutaneous catheter drainage,with no significant difference in treatment strategy between the two groups(P=0.625).Conclusion:Early-onset extensive EP represents a rare and fulminant subtype of IPN with extremely poor outcomes.Klebsiella pneumoniae and CRE are the predominant pathogens.Early radiological evaluation and timely intervention are crucial for improving prognosis in these patients.

Objective:To investigate the effects of radiofrequency technology combined with electrical stimulation biofeedback training on stress urinary incontinence in female patients.Methods:This is a prospective study that included 360 female patients with stress urinary incontinence who visited the Department of Gynecology and Obstetrics at Lianyungang Maternal and Child Health Hospital from June 2021 to June 2023. The patients were divided into three groups using a random number table method: a radiofrequency treatment group ( n = 120, treated with radiofrequency technology), an electrical stimulation treatment group ( n = 120, treated with electrical stimulation biofeedback training), and a combined treatment group ( n = 120, treated with a combination of radiofrequency technology and electrical stimulation biofeedback training). The clinical efficacy of the three groups was evaluated. Before and after treatment, a 1-hour pad test and urine test were conducted. The Incontinence Questionnaire-Urinary Incontinence Short Form was used to assess the surface electromyography values of the pelvic floor muscles in patients across the three groups. Results:The effective treatment rate in the combined treatment group was 87.50% (105/120), which was significantly higher than the rates in the radiofrequency treatment group (69.17%, 83/120) and the electrical stimulation treatment group (71.67%, 86/120) ( χ2 = 13.05, P < 0.05). After treatment, the 1-hour pad test showed that the urine leakage amounts and the Incontinence Questionnaire-Urinary Incontinence Short Form scores for the combined treatment group were (1.14 ± 0.16) g and (4.15 ± 0.48), respectively. In comparison, the values in the radiofrequency treatment group were (3.04 ± 0.42) g and (8.66 ± 0.89), while in the electrical stimulation treatment group they were (3.01 ± 0.39) g and (8.78 ± 0.91). Differences among the three groups were statistically significant ( F = 1 024.37, 1 354.96, all P < 0.05). After treatment, the surface electromyography values during the rapid contraction, sustained contraction, and endurance contraction phases for the combined treatment group were (31.97 ± 3.24) μV, (27.01 ± 3.02) μV, and (20.05 ± 2.11) μV, respectively. For the radiofrequency treatment group, the values were (27.85 ± 2.72) μV, (21.63 ± 2.39) μV, and (15.14 ± 1.63) μV, while the electrical stimulation treatment group showed values of (27.93 ± 2.75) μV, (22.04 ± 2.41) μV, and (15.39 ± 1.67) μV. Differences among the three groups were also statistically significant ( F = 78.49, 156.43, 278.16, all P < 0.05). Conclusions:Radiofrequency technology combined with electrical stimulation biofeedback training can substantially improve pelvic floor muscle strength and reduce urinary incontinence symptoms in female patients with stress urinary incontinence.

Objective:To explore the differences of metabolomic profiles in day 3 (D3) culture medium of embryos with varying developmental potentials, in order to provide a theoretical foundation for the establishment of embryo selection technology platform using metabolomics.Methods:Eight patients who received in vitro fertilization and embryo transfer (IVF-ET) treatment at Reproductive Medicine Center of Guangxi Zhuang Autonomous Region Maternal and Child Health Hospital between November 13 and December 5, 2023 were selected as the study subjects. The D3 culture medium from patient embryos was collected and divided into high-quality blastocysts ( n=42), non-high-quality blastocysts ( n=33), and embryos that failed to form blastocysts (non-formation group, n=43) according to the formation of day 5 blastocysts. High-performance liquid chromatography-mass spectrometry was employed to perform non-targeted metabolomic analysis in the D3 culture medium from three distinct groups. Results:1) The metabolites in D3 culture medium of embryos with varying developmental potentials exhibit significant differences. Specifically, 79 differential metabolites were identified between the blastocyst formation group and the non-blastocyst formation group (all P<0.05); additionally, 73 differential metabolites were found between the high-quality blastocyst group and the non-high-quality blastocyst group (all P<0.05). 2) The area under the receiver operating characteristic curve of significantly differential metabolites for predicting potential of D3 embryo blastocyst formation and high-quality blastocyst formation were both greater than 0.9, demonstrating excellent predictive performance. 3) KEGG pathway enrichment analysis revealed that differential metabolites associated with blastocyst formation potential were primarily enriched in pathways including D-amino acid metabolism, glycine-serine-threonine metabolism, arginine biosynthesis, and histidine metabolism ( P<0.05). For high-quality blastocyst formation, the differential metabolites were predominantly enriched in pathways related to tryptophan metabolism, D-amino acid metabolism, serotonergic synapses, and protein digestion and absorption ( P<0.05). Conclusion:Embryos with different developmental potentials have significantly different metabolic profiles, and it is feasible to predict the developmental potential of D3 embryos by metabolomics analysis.

Objective To analyze the disability level and long-term care needs assessment policies issued by 49 pilot cities in China's long-term care insurance system,providing insights for further improvement of the system.Methods Policy documents related to long-term care insurance,published between June 2016 and December 2024 on official platforms of local governments,the Ministry of Human Resources and Social Security,the National Healthcare Security Administration,and the National Public Service Platform for Standards Information,were retrieved.A comparative analysis was used to summarize and compare the content of these policy texts.Results Currently,there are 49 pilot cities implementing the long-term care insurance system in China.47 cities have issued disability level assessment standards,with 38 cities adopting the trial standards issued by the National Healthcare Security Administration.In 42 pilot cities,the disability level assessment includes indicators such as activities of daily living,cognitive function,and sensory and communication abilities.22 cities have issued policies related to care needs assessment.In most cities,the care needs assessment partially or fully includes indicators from the disability level assessment.Conclusion There is no national uniformity in disability level assessment standards,and the care needs assessment framework needs further improvement.It is recommended to standardize disability level assessment criteria,clearly delineate the boundaries and content of disability level and care needs assessments,and enhance the development of the care needs assessment system.

Recent studies have shown that the physiological homeostasis of oral mucosal cells is regulated by the circadian clock.Dis-ruption or dysfunction of the circadian clock is closely associated with the development of oral squamous cell carcinoma(OSCC).Research based on the circadian clock offers a novel perspective on the pathogenesis and therapeutic strategies for OSCC.However,there is current-ly limited research on this topic,and people generally have insufficient understanding and recognition of the circadian clock.Given the complexity and challenges of circadian clock which is the fourth dimension of medical research,we organize relevant experts based on summarizing the current research results of circadian clock in the pathogenesis and precision diagnosis and treatment of OSCC,combining the scientific principles of the circadian clock's role and their long-term research experience,then summarizes and recommends the con-sensus opinions for the research of circadian clock in the pathogenesis mechanism and precision diagnosis and treatment of human OSCC,with the hope of providing guidance for the basic research and clinical application of circadian clock or circadian rhythm in the pathogene-sis mechanism and precision diagnosis and treatment of oral and maxillofacial squamous cell carcinoma.

Objective This study aims to develop a guideline for assessing and maintaining intrinsic capacity in older adults,offer recommendations to professionals regarding these assessments,and encourage the implementation of evidence-based clinical practices across various settings,including communities,hospitals,nursing homes,and other geriatric care environments.Methods An evidence-based approach guided the collection of questions through a lit-erature review.Preliminary recommendations were developed through a systematic search of domestic and interna-tional guideline networks,professional association websites,and comprehensive databases.Subsequently,the recom-mendations were revised,and the consensus was achieved through a round of expert consensus meetings and 3 rounds of expert correspondence,culminating in the formation of the guidelines.Results The developed guideline encompasses 2 aspects and 5 dimensions of assessment and maintenance,comprising a total of 28 questions and 39 recommendations.Specifically,6 questions and 9 recommendations were formulated for the cognitive dimension,5 questions and 7 recommendations for the locomotion dimension,6 questions and 7 recommendations for the vitality dimension,6 questions and 9 recommendations for the psychological dimension,and 5 questions and 7 recommenda-tions for the sensory dimension.Among these,34 are classified as strong recommendations,while 5 are categorized as weak recommendations.Conclusion The guideline offers scientifically robust,acceptable,and comprehensible rec-ommendations that equip the professionals with a foundation for decision-making aiming at preserving the intrinsic capacity of older adults.