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 guiding value of bioimpedance vector analysis (BIVA) in the hy-dration of the patients undergoing coronary angiography (CAG) in order to provide the practical and strongly operable objective indicators for clinical practice reducing the occurrence of contrast agent-related acute renal injury (CI-AKI).Methods The convenience sampling method was used to select 72 inpatients with coronary heart disease who underwent CAG for the first time in the department of cardiovascular medicine in this hos-pital from August to October 2023.The basic information of the patients was collected,the blood biochemistry and N-terminal pro-brain natriuretic peptide (NT-ProBNP) were collected,and the preoperative body moisture situation was obtained by BIVA.The laboratory data and contrast agent dosage were extracted from LIS sys-tem and nursing document system.The SPSS27.0 software was used to analyze the correlation between pre-operative body water and postoperative creatinine level,glomerular filtration rate (eGFR),CI-AKI.The rec-ommended range of total body water in this study was calculated by the formula (90% probability).Results The total body moisture measured before operation in the patients with CAG had weakly positive correlation with eGFR on postoperative 1 d (r=0.19,P=0.02).The total body moisture had weakly negative correlation with creatinine on postoperative 1 d (r=-0.23,P<0.01),slightly negative correlation with cre-atinine on postoperative 3 d (r=-0.24,P=0.04),and moderately negative correlation with postoperative CI-AKI occurrence (r=-0.35,P<0.01);the proportion of body water had slightly positive correlation with eGFR on postoperative 3 d (r=0.22,P=0.01).With the no occurrence of CI-AKI in the patients with CAG as the target,according to the formula calculation,it is suggested that the total body moisture range (90% probability) of this study should not be less than 33.25 L.Conclusion BIVA is of guiding significance for the hydration of the patients with CAG.

Objective:To evaluate the effect of teacher simulate standardized patient (TSSP) consultation training in pediatric practical teaching.Methods:A total of 120 interns from the five-year clinical medicine major of Batch 2015 were randomly divided into experimental group and control group. In the experimental group, 60 interns were trained by TSSP for consultation after admission. After the training, the clinical parents of the children were consulted and the children were physically examined under the guidance of teachers. In the control group, 60 interns were trained according to the same requirements, but TSSP consultation training was not included. At the end of the practice, the performance, operation skills and medical record writing ability of the interns were compared, and the satisfaction of the experimental group was investigated. SPSS 25.0 software was used for t test and chi-square test. Results:The medical record writing results of the experimental group were (96.15±3.00) points, significantly higher than that of the control group [(81.02±3.29) points], and the differences were statistically significant ( t = 26.38; P < 0.001). In the mini-clinical evaluation exercise (Mini-CEX), the scores of medical history collection, communication skills, humanistic care and physical examination were significantly higher than those of the control group ( t= 15.41, 17.67, 15.39 respectively; all P < 0.001). The experimental group had high satisfaction with the teaching method of TSSP consultation training. Conclusion:TSSP consultation training improves the intern medical record writing ability, doctor-patient communication ability, clinical operation ability, stimulates the learning interest of interns, trains the trainee doctors humanistic consciousness, integrates into the ideological and political education, effectively ensures the quality of practical teaching of pediatrics, and obtains recognition from intern, which is worth promoting.

Objective To investigate the expression of programmed death ligand 1(PD-L1) in primary tumor cells(TCs) and tumor-infiltrating immune cells(TICs) in patients with liver metastases from colorectal cancer(CRC) and determine its predictive value for recurrence after microwave ablation(MWA) of liver metastases. Methods The paraffin-embedded specimens of 28 patients with CRC liver metastasis were collected retrospectively. The expression of PD-L1 in the primary lesions was detected by immunohistochemistry, and the relationship between PD-L1 and clinical features was analyzed. Recurrence-free survival(RFS) was analyzed by Kaplan-Meier method and Log rank test. Cox proportional hazards regression model was used to analyze the factors influencing recurrence. Results The positive rates of PD-L1 in TCs and TICs in primary CRC were 14.3%(4/28) and 46.4%(13/28), respectively. PD-L1 expression in primary TICs of CRC patients with liver metastases was significantly correlated with the largest hepatic tumor diameter (P < 0.05). PD-L1 expression in primary TICs of CRC patients with liver metastasis was correlated with poor RFS after MWA (P < 0.05). PD-L1 expression in primary TICs and the largest hepatic tumor diameter > 3 cm in CRC patients with liver metastases were the risk factors for recurrence after MWA (P < 0.05). Conclusion PD-L1 expression in primary TICs of CRC patients with liver metastasis may increase the risk of recurrence after MWA for liver metastasis.

Objective To observe the therapeutic effect of probiotics combined with montelukast in children with Mycoplasma pneumoniae pneumonia(MPP)complicated with myocardial injury.Methods A total of 102 children with MPP and myocardial injury were selected as the study objects,and were randomly divided into control group and observation group,with 51 cases in each group.The control group was treated with montelukast,and the observation group was treated with probiotics based on the control group.The clinical efficacy,symptom resolution time,hospital stay,myocardial injury index,inflammatory cytokines,intestinal flora level and incidence of adverse reactions were compared between the two groups.Results The total effective rate of the observation group was 92.16％,which was significantly higher than 76.47％of the control group(P＜0.05).The disappearance time of symptoms of fever,cough,shortness of breath,chest tightness and chest pain and hospital stay in the observation group were significantly shorter than those in the control group(P＜0.05).After treat-ment,the levels of cardiac troponin T(cTnT),B-type natriuretic peptide(BNP),myoglobin(Mb)and cardiac fatty acid binding protein(H-FABP)in the observation group were significantly lower than those in the control group(P＜0.05);the levels of interleukin-1 receptor 1(IL-1R1),gamma-interferon(γ-IFN)and high mobility group protein 1(HMGB1)in the observation group were significantly lower than those inthe control group(P＜0.05);the number of Bifidobacteria,Lactobacillus aci-dophilus,Enterococcus faecalis and Bacillus cereus in the observation group were significantly higher than the control group,while the number of Escherichia coli and Salmonella were significantly lower than those in the control group(P＜0.05).There was no significant difference in the incidence of ad-verse reactions between the two groups(P＞0.05).Conclusion Probiotics combined with monte-lukast have good efficacy in MPP children with myocardial injury,which can shorten the time of symp-tom resolution and hospital stay,improve the indexes of myocardial injury in children,inhibit the lev-el of inflammatory cytokines,adjust the structure of intestinal flora disorder,and have good safety.

Objective To observe the therapeutic effect of probiotics combined with montelukast in children with Mycoplasma pneumoniae pneumonia(MPP)complicated with myocardial injury.Methods A total of 102 children with MPP and myocardial injury were selected as the study objects,and were randomly divided into control group and observation group,with 51 cases in each group.The control group was treated with montelukast,and the observation group was treated with probiotics based on the control group.The clinical efficacy,symptom resolution time,hospital stay,myocardial injury index,inflammatory cytokines,intestinal flora level and incidence of adverse reactions were compared between the two groups.Results The total effective rate of the observation group was 92.16％,which was significantly higher than 76.47％of the control group(P＜0.05).The disappearance time of symptoms of fever,cough,shortness of breath,chest tightness and chest pain and hospital stay in the observation group were significantly shorter than those in the control group(P＜0.05).After treat-ment,the levels of cardiac troponin T(cTnT),B-type natriuretic peptide(BNP),myoglobin(Mb)and cardiac fatty acid binding protein(H-FABP)in the observation group were significantly lower than those in the control group(P＜0.05);the levels of interleukin-1 receptor 1(IL-1R1),gamma-interferon(γ-IFN)and high mobility group protein 1(HMGB1)in the observation group were significantly lower than those inthe control group(P＜0.05);the number of Bifidobacteria,Lactobacillus aci-dophilus,Enterococcus faecalis and Bacillus cereus in the observation group were significantly higher than the control group,while the number of Escherichia coli and Salmonella were significantly lower than those in the control group(P＜0.05).There was no significant difference in the incidence of ad-verse reactions between the two groups(P＞0.05).Conclusion Probiotics combined with monte-lukast have good efficacy in MPP children with myocardial injury,which can shorten the time of symp-tom resolution and hospital stay,improve the indexes of myocardial injury in children,inhibit the lev-el of inflammatory cytokines,adjust the structure of intestinal flora disorder,and have good safety.

Objective:To explore the value of detecting pneumocystis carini(PC)rapidly in immunocompromised patients by loop mediated isothermal amplification(LAMP).Methods:Respiratory tract specimens of immunocompromised children suspected of pneumocystis carinii pneumonia(PCP) at Shanghai Children′s Medical Center, School of Medicine, Shanghai Jiao Tong University were collected from May 2020 to May 2021.PCR and LAMP methods were used to detect PC.Firstly, LAMP primers of PC were synthetized according to the conserved region of PC gene, and the LAMP reaction system and reaction conditions were optimized to evaluate the sensitivity and specificity.Then, the results of pathogens were compared with those of PCR detection.Results:The established LAMP detection technology for PC had high specificity and super sensitivity.The detection results could be obtained within 1 hour.In 12 clinical samples, 10 cases were positive and 2 cases were negative, the coincidence rate of LAMP and PCR technique was 100%.Conclusion:LAMP can detect PC more rapidly and sensitively than PCR, and it can provide a good support for clinical rapid diagnosis of PCP.

Objective:To investigate the pathogens and drug resistance of bacterial enteritis in children, analyze the clinical characteristics of bacterial enteritis in children, and provide basis for clinical diagnosis and treatment.Methods:The fecal culture strain and drug sensitivity of patients with bacterial enteritis admitted to our hospital from January 2016 to December 2020 were analyzed and summarized, and the clinical characteristics of patients who were infected by Salmonella and Escherichia coli were compared.Results:There were a total of 173 patients, aged from 21 days to 15 years, with a median age of 2.00(1.10, 3.54)years.Bacterial enteritis was most likely to occur in summer and autumn, and the incidence rate was 40.5% and 29.5%, respectively.One hundreds and seventy-three strains of bacteria were cultured in feces, including 148 strains of Salmonella(85.5%), 18 strains of Escherichia coli(10.4%), five strains of Staphylococcus aureus and two strains of Shigella.One hundreds and one of 141 patients who were infected with Salmonella were detected for leukocytes of in feces(71.6%), and four of 16 patients with Escherichia coli were detected for leukocytes(25.0%). The difference was significant( χ2=14.1, P<0.001). Eighty-eight of 113 patients(77.9%) who were infected by Salmonella with increased CRP(CRP>8 mg/L)and the proportion in Escherichia coli infection cases was 6/13(46.2%). There was significant difference( χ2=4.63, P=0.03). The drug sensitivity of Salmonella and Escherichia coli was summarized.There was no carbapenem resistant strain cultured; The sensitivity to piperacillin/tazobactam and cefoperazone/sulbactam was higher than 85%; The sensitivity to cefepime, ceftazidimeand ceftriaxone was higher than 75%; The sensitivity to ampicillin was lower than 30%, and the sensitivity to quinolones was between 20%-40%. Conclusion:Children aged 1-3 years are prone to bacterial enteritis in summer and autumn.The most common pathogens causing bacterial enteritis are Salmonella and Escherichia coli.White blood cells are more easily detected in feces of patients with Salmonella infection, and the increase rate of C-reactive protein in peripheral blood is higher.Patients with bacterial enteritis are recommended to use the third-generation cephalosporins and aforementioned antibiotics and piperacillin/tazobactam for empirical treatment.The sensitivity to quinolones is reduced, and may not be suitable for clinical application.