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

Purpose: The aim of this study was to investigate the feasibility of an intelligent handheld ultrasound (US) device for assisting non-expert general practitioners (GPs) in detecting carotid plaques (CPs) in community populations. Methods: This prospective parallel controlled trial recruited 111 consecutive community residents. All of them underwent examinations by non-expert GPs and specialist doctors using handheld US devices (setting A, setting B, and setting C). The results of setting C with specialist doctors were considered the gold standard. Carotid intima-media thickness (CIMT) and the features of CPs were measured and recorded. The diagnostic performance of GPs in distinguishing CPs was evaluated using a receiver operating characteristic curve. Inter-observer agreement was compared using the intragroup correlation coefficient (ICC). Questionnaires were completed to evaluate clinical benefits. Results: Among the 111 community residents, 80, 96, and 112 CPs were detected in settings A, B, and C, respectively. Setting B exhibited better diagnostic performance than setting A for detecting CPs (area under the curve, 0.856 vs. 0.749; P<0.01). Setting B had better consistency with setting C than setting A in CIMT measurement and the assessment of CPs (ICC, 0.731 to 0.923). Moreover, measurements in setting B required less time than the other two settings (44.59 seconds vs. 108.87 seconds vs. 126.13 seconds, both P<0.01). Conclusion Using an intelligent handheld US device, GPs can perform CP screening and achieve a diagnostic capability comparable to that of specialist doctors.

Objective:To analyze the relevant factors affecting treatment compliance in infertile patients with mycoplasma infection, construct a nomogram prediction model and validate it.Methods:In this case-control study, we retrospectively analyzed the clinical data of 400 infertile patients who attended the Department of Reproduction of Ganzhou Maternal and Child Health Hospital, Jiangxi Province from April 2022 to March 2024. They were divided into modeling group ( n=280) and validation group ( n=120) according to the 7∶3 principle with random number method, and further divided into complete compliance subgroup and unstable compliance subgroup based on different levels of compliance. Multiple logistic regression model was used to analyze the risk factors affecting treatment adherence in infertile patients with mycoplasma infection, variance inflation factor was used to assess the collinearity of the independent variables and to construct a columnar plot prediction model, and the validation and predictive efficacy of the columnar plot model were assessed by calibration curves and decision curves, respectively. The validation and predictive efficacy of the column chart model were evaluated by calibration curve and decision curve respectively. Results:In the modeling group, there was no significant statistical difference between the fully compliant group and the unstable compliant group in terms of body mass index, place of residence, occupation, settlement form, and attitude of medical staff (all P>0.05). Age in the unstable adherence subgroup [(33.22±3.20) years], proportion of junior high school and below in education [36.81% (67/182)], proportion of average monthly disposable amount ≤2 000 yuan [36.81% (67/182)], proportion of poor disease awareness [62.09% (113/182)], and infertility related stress scale (IRSS) scores (45.60±17.14) were higher than those in the full adherence subgroup [(31.36±3.24) years, P<0.001; 19.39% (19/98), P=0.003; 16.33% (16/98), P<0.001; 28.57% (28/98), P<0.001; 37.64±16.69, P<0.001]. The receiver operating characteristc curve analysis results showed that the optimal cutoff values for age and IRSS score were 32 years old and 42 points, respectively. The results of logistic multiple regression model showed that: age ( OR=1.453, 95% CI: 1.260-1.794, P=0.002), education level ( OR=1.386, 95% CI: 1.185-1.564, P<0.001), average monthly disposable amount ( OR=1.081, 95% CI: 1.002-1.246, P=0.023), disease awareness level ( OR=1.827, 95% CI: 1.390-2.359, P<0.001), and average monthly disposable amount ( OR=1.081, 95% CI: 1.002-1.246, P=0.023), disease awareness ( OR=1.827, 95% CI:1.390-2.359, P<0.001), and IRSS score ( OR=1.590, 95% CI: 1.255-1.902, P=0.006) were independent risk factors affecting treatment adherence in infertile patients with mycoplasma infection. The modeling group C-index was 0.872 (0.816-0.927), the intercept (-0.004) and slope (0.995) of the calibration curve were close to the desirable values of 0 and 1, the Brier score was 0.017, and thresholds between 0.37 and 0.96 provided a net clinical benefit. The C-index of the test model set was 0.816 (0.736-0.896), the intercept (-0.007) and slope (1.015) of the calibration curve were close to the ideal values of 0 and 1, the Brier score was 0.013, and the threshold value provided a net clinical benefit when the threshold value ranged from 0.21 to 0.98, and the H-L goodness-of-fit test showed that χ 2=7.36, P=0.499, and the constructed predictive model for the column line graphs had good discrimination and consistency. Conclusion:Age, educational level, monthly average disposable income, disease awareness, and IRSS score are the relevant factors affecting treatment compliance in infertile patients with mycoplasma infection. The nomogram prediction model constructed in this study based on those relevant factors has a good predictive value for treatment compliance in infertile patients with mycoplasma infection, and can provide certain reference for clinical intervention measures.

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:To investigate the anti-heart failure mechanism of N-acetylcysteine(NAC)in diabetic cardiomyop-athy independent from coronary artery factors.Methods:A total of 40 diabetic mice after heart failure model construction were randomly divided into two groups,NAC group(n=20,NAC 100mg·kg-1·d-1)and control group(n=20,Saline 100 mg·kg-1·d-1).Echocardiography was performed to detect left ventricular end-diastolic volume(LVEDV),left ventricular end-systolic volume(LVESV),left ventricular ejection fraction(LVEF),mitral left ventricular early-dias-tolic peak flow velocity/left ventricular late-diastolic peak flow velocity(E/A),isovolumic relaxation time(IVRT)and cardiac output(CO)after 4 weeks.Terminal uridine nick-end labeling(TUNEL)was performed to detect apoptosis in-dex,and Western Blot was performed to detect the expression of extracellular regulated protein kinases(ERK)1/2 after 6 weeks in two groups.Results:Compared to those in control group,mice in NAC group had significant higher LVEF[(40.5±3.4)％vs.(36.9±3.2)％],E/A[(1.5±0.1)vs.(1.4±0.1)]and CO[(10.3±0.6)ml/min vs.(9.9±0.5)ml/min](P＜0.05 or＜0.01);and significant lower LVESV[(23.1±1.3)μl vs.(24.7±1.5)μl],apoptosis index[(31.2±0.5)％vs.(45.1±0.9)％]and the expression of ERK1/2[(2.2±0.2)vs.(3.9±0.1)](P＜0.001 all).Conclusion:NAC exerts anti-heart failure effect by attenuating apoptosis of cardiomyocytes via regulating ERK1/2 pathway.

Three evaluation methods were recommended for the key properties of the intravascular catheter lubricating coating such as stability,lubricity and integrity,including insoluble particle test method,friction test procedure and appearance detection method.Fifteen batches of microcatheters produced by different manufacturers were selected for testing to clarify the three methods in test principle,step,result,characteristic.References were provided for the design,production,evaluation and regulation of intravascular catheters with lubricant coatings.[Chinese Medical Equipment Journal,2025,46(1):66-72]

Objective:To investigate the predictive value of color Doppler ultrasound combined with electrocardio-gram for right heart dys function in patients with pulmonary heart disease(PHD).Methods:A total of 100 PHD patients admitted in Dongcheng Branch of First Affiliated Hospital of Anhui Medical University between January 2020 and December 2023 were retrospectively analyzed.According to results of 6min walking test(6MWT),pa-tients were divided into good right heart function group(n=64,≥350m)and right heart dysfunction group(n=36,＜350m).The indexes of cardiac color ultrasound[isovolumic relaxation time(IVRT),isovolumetric contraction time(IVCT)and right ventricular Tei index],ECG[24h mean R-R interval standard deviation(SDNN),normal R-R interval standard deviation per 5min(SDANN)and the ratio of low frequency components to high frequency components(LF/HF)]were compared between two groups.Receiver operating characteristic(ROC)curve was drawn to analyze the diagnostic value of color Doppler ultrasound,ECG and their combination for right heart dys-function in PHD patients.Spearman correlation coefficient was used to analyze the association of color Doppler ul-trasound,ECG and their combination with right heart dysfunction in PHD patients.Results:Compared with those in good right heart function group,patients in right heart dysfunction group had significant higher IVRT[(120.64±14.08)ms vs.(97.87±10.93)ms],IVCT[(84.28±12.33)ms vs.(71.92±10.61)ms]and Tei index[(0.85±0.11)vs.(0.63±0.07)](P＜0.001 all),and significant lower SDNN[(75.52±12.58)ms vs.(85.58±11.75)ms],SDANN[(63.86±10.92)ms vs.(76.75±11.71)ms]and LF/HF[(1.33±0.19)vs.(1.84±0.27)](P＜0.001 all).ROC curve indicated that the AUC of color Doppler ultrasound combined ECG in diagnosing right heart dysfunction in PHD patients was 0.911(95％CI 0.838～0.959),which was significantly higher than those of color Doppler ultrasound[0.775(95％CI 0.681～0.853),Z=2.404,P=0.016]and ECG[0.688(95％CI 0.588～0.777),Z=3.968,P=0.001]alone.Spearman correlation analysis indicated that there was a significant positive correlation of color Doppler ultrasound(r=0.547),ECG(r=0.375)and their combination(r=0.810)with right heart dysfunction in PHD patients(P＜0.001 all),and the correlation between combined detection and right heart dysfunction in PHD patients was significantly higher.Conclusion:Color Doppler ultrasound combined with ECG possesses high diagnostic performance for right heart dysfunction in PHD patients.

The implementation of the Good Pharmacovigilance Practice(GVP)in 2021 has laid a solid foundation for improving China's pharmacovigilance system,a matter of paramount importance currently emphasized by Marketing Authorization Holders(MAHs).Given the unique organizational structures of corporate groups,establishing a centralized pharmacovigilance system can optimize resource utilization.This paper analyzes the challenges faced by corporate groups in developing such central-ized systems and proposes an organizational framework with defined operational divisions.The findings aim to provide actionable insights for vaccine manufacturers in establishing and refining life cycle pharmacovigilance systems.

Objective:To analyze the relevant factors affecting treatment compliance in infertile patients with mycoplasma infection, construct a nomogram prediction model and validate it.Methods:In this case-control study, we retrospectively analyzed the clinical data of 400 infertile patients who attended the Department of Reproduction of Ganzhou Maternal and Child Health Hospital, Jiangxi Province from April 2022 to March 2024. They were divided into modeling group ( n=280) and validation group ( n=120) according to the 7∶3 principle with random number method, and further divided into complete compliance subgroup and unstable compliance subgroup based on different levels of compliance. Multiple logistic regression model was used to analyze the risk factors affecting treatment adherence in infertile patients with mycoplasma infection, variance inflation factor was used to assess the collinearity of the independent variables and to construct a columnar plot prediction model, and the validation and predictive efficacy of the columnar plot model were assessed by calibration curves and decision curves, respectively. The validation and predictive efficacy of the column chart model were evaluated by calibration curve and decision curve respectively. Results:In the modeling group, there was no significant statistical difference between the fully compliant group and the unstable compliant group in terms of body mass index, place of residence, occupation, settlement form, and attitude of medical staff (all P>0.05). Age in the unstable adherence subgroup [(33.22±3.20) years], proportion of junior high school and below in education [36.81% (67/182)], proportion of average monthly disposable amount ≤2 000 yuan [36.81% (67/182)], proportion of poor disease awareness [62.09% (113/182)], and infertility related stress scale (IRSS) scores (45.60±17.14) were higher than those in the full adherence subgroup [(31.36±3.24) years, P<0.001; 19.39% (19/98), P=0.003; 16.33% (16/98), P<0.001; 28.57% (28/98), P<0.001; 37.64±16.69, P<0.001]. The receiver operating characteristc curve analysis results showed that the optimal cutoff values for age and IRSS score were 32 years old and 42 points, respectively. The results of logistic multiple regression model showed that: age ( OR=1.453, 95% CI: 1.260-1.794, P=0.002), education level ( OR=1.386, 95% CI: 1.185-1.564, P<0.001), average monthly disposable amount ( OR=1.081, 95% CI: 1.002-1.246, P=0.023), disease awareness level ( OR=1.827, 95% CI: 1.390-2.359, P<0.001), and average monthly disposable amount ( OR=1.081, 95% CI: 1.002-1.246, P=0.023), disease awareness ( OR=1.827, 95% CI:1.390-2.359, P<0.001), and IRSS score ( OR=1.590, 95% CI: 1.255-1.902, P=0.006) were independent risk factors affecting treatment adherence in infertile patients with mycoplasma infection. The modeling group C-index was 0.872 (0.816-0.927), the intercept (-0.004) and slope (0.995) of the calibration curve were close to the desirable values of 0 and 1, the Brier score was 0.017, and thresholds between 0.37 and 0.96 provided a net clinical benefit. The C-index of the test model set was 0.816 (0.736-0.896), the intercept (-0.007) and slope (1.015) of the calibration curve were close to the ideal values of 0 and 1, the Brier score was 0.013, and the threshold value provided a net clinical benefit when the threshold value ranged from 0.21 to 0.98, and the H-L goodness-of-fit test showed that χ 2=7.36, P=0.499, and the constructed predictive model for the column line graphs had good discrimination and consistency. Conclusion:Age, educational level, monthly average disposable income, disease awareness, and IRSS score are the relevant factors affecting treatment compliance in infertile patients with mycoplasma infection. The nomogram prediction model constructed in this study based on those relevant factors has a good predictive value for treatment compliance in infertile patients with mycoplasma infection, and can provide certain reference for clinical intervention measures.

Objective To investigate the current situation of ethical system construction in the publication of medical science and technology journals in universities,to explore the problems in the construction of ethical system in the publication of medical science and technology journals in universities,and propose corresponding suggestions.Methods A total of 55 medical university journals included in the 2023 edition of the China Science and Technology Journal Citation Reports(Core Edition)Natural Science Volume were selected as the research subjects,and their publishing ethics system construction was investigated through the journal's official website.Results Only 18 journals have clear publishing ethics sections on their official websites,covering publishing ethics systems related to authors,reviewers,editors,and publishers,while other journals only mention publishing ethics systems related to authors,reviewers,editors,and publishers in their submission guidelines,peer reviews,and related statements published on their respective official websites,and the coverage is incomplete and the publishing process is opaque.Conclusion Ethical systems and strengthen the prevention and handling of academic misconduct,to strengthen the promotion of publishing ethics system and enhance the integrity awareness of authors,to promote transparency in the publishing process and strengthen supervision and to early warning of various publishing processes.