Objective To examine the significance of susceptible gene detection for hereditary cancer syndrome (HCS) among general population. Methods A total of 2 928 individuals undergoing routine health examinations in Healthcare Center of Zhongshan Hospital, Fudan University, from September 2021 to April 2024 were enrolled retrospectively. Next generation sequencing was employed to identify susceptible genes for HCS. American College of Medical Genetics and Genomics (ACMG) guideline was used to analyze the pathogenicity of variants. Clinical data, imagings, follow-up data were also collected. Results The overall mutation rate of HCS panel was 3.59% (105/2 928), with 0.61% (18/2 928) for MutY DNA glycosylase (MUTYH), 0.27% (8/2 928) for breast cancer susceptibility gene 1/2 (BRCA1/2) and 0.23% (7/2 928) for mismatch repair (MMR) genes. Conclusions Healthy individuals carrying tumor susceptible genes usually lack the relevant clinical phenotypes. Whether comprehensive testing needs to be carried out among healthy people remains to be further explored.

Objective To establish a nomogram model for predicting clinical pregnancy rate in patients with endometriosis undergoing fresh embryo transfer.Methods We retrospectively collected the data of 464 endometriosis patients undergoing fresh embryo transfer,who were randomly divided into a training dataset(60%)and a testing dataset(40%).Using univariate analysis,multiple logistic regression analysis,and LASSO regression analysis,we identified the factors associated with the fresh transplantation pregnancy rate in these patients and developed a nomogram model for predicting the clinical pregnancy rate following fresh embryo transfer.We employed an integrated learning approach that combined GBM,XGBOOST,and MLP algorithms for optimization of the model performance through parameter adjustments.Results The clinical pregnancy rate following fresh embryo transfer was significantly influenced by female age,Gn initiation dose,number of assisted reproduction cycles,and number of embryos transferred.The variables included in the LASSO model selection included female age,FSH levels,duration and initial dose of Gn usage,number of assisted reproduction cycles,retrieved oocytes,embryos transferred,endometrial thickness on HCG day,and progesterone level on HCG day.The nomogram demonstrated an accuracy of 0.642(95%CI:0.605-0.679)in the training dataset and 0.652(95%CI:0.600-0.704)in the validation dataset.The predictive ability of the model was further improved using ensemble learning methods and achieved predicative accuracies of 0.725(95%CI:0.680-0.770)in the training dataset and 0.718(95%CI:0.675-0.761)in the validation dataset.Conclusions The established prediction model in this study can help in prediction of clinical pregnancy rates following fresh embryo transfer in patients with endometriosis.

Objective:To construct a risk prediction and column chart model for venous thromboembolism (VTE) in patients with nephrotic syndrome and provide reference for VTE prevention.Methods:To use the retrospective cohort study design, the nephrotic syndrome patients who were hospitalized in Peking University Third Hospital from January 2018 to December 2022 were selected as the study subjects by convenient sampling method. Using univariate and multivariate Logistic regression analysis to analyze the risk factors for VTE in patients with nephrotic syndrome, establish a risk prediction model, and draw a column chart. The receiver operating characteristic (ROC) working curve and Hosmer Lemeshow test were used to verify the predictive performance of the model.Results:Among the 279 collected patients,187 males and 92 females, aged (54.25 ± 16.29) years, 43 cases developed thrombosis, with an incidence rate of 15.4%. The results of univariate analysis showed that different genders, ages, activity ability, alcohol consumption history, use of diuretics, albumin, hematocrit, fibrinolytic products, activated partial thromboplastin, D-dimer quantification and glomerular filtration rate showed differences in the occurrence of VTE in patients with nephrotic syndrome ( χ2=4.22, 4.62, 12.30, Z values were -5.73 to 6.07, t=-2.07,all P<0.05). The results of multivariate Logistic regression analysis showed that age, whether diuretics were used, activated partial thromboplastin, D-dimer and glomerular filtration rate were independent influencing factors for VTE ( OR values were 0.913- 3.285, all P<0.05). The above factors were five independent variables to construct a column chart. The area under the ROC curve of the model was 0.810, and the maximum value of the Jordan index was 0.518, the sensitivity was 66.67% and the specificity was 85.15%. The Hosmer-Lemeshow goodness-of-fit test showed that the model fit well ( χ2=12.00, P=0.151). Conclusions:The constructed column chart can personalized predict the risk of thrombosis in patients with nephrotic syndrome and help nursing staff in quickly identifying high-risk patients for thrombosis and taking corresponding intervention measures in a timely manner.

Objective To establish a nomogram model for predicting clinical pregnancy rate in patients with endometriosis undergoing fresh embryo transfer.Methods We retrospectively collected the data of 464 endometriosis patients undergoing fresh embryo transfer,who were randomly divided into a training dataset(60%)and a testing dataset(40%).Using univariate analysis,multiple logistic regression analysis,and LASSO regression analysis,we identified the factors associated with the fresh transplantation pregnancy rate in these patients and developed a nomogram model for predicting the clinical pregnancy rate following fresh embryo transfer.We employed an integrated learning approach that combined GBM,XGBOOST,and MLP algorithms for optimization of the model performance through parameter adjustments.Results The clinical pregnancy rate following fresh embryo transfer was significantly influenced by female age,Gn initiation dose,number of assisted reproduction cycles,and number of embryos transferred.The variables included in the LASSO model selection included female age,FSH levels,duration and initial dose of Gn usage,number of assisted reproduction cycles,retrieved oocytes,embryos transferred,endometrial thickness on HCG day,and progesterone level on HCG day.The nomogram demonstrated an accuracy of 0.642(95%CI:0.605-0.679)in the training dataset and 0.652(95%CI:0.600-0.704)in the validation dataset.The predictive ability of the model was further improved using ensemble learning methods and achieved predicative accuracies of 0.725(95%CI:0.680-0.770)in the training dataset and 0.718(95%CI:0.675-0.761)in the validation dataset.Conclusions The established prediction model in this study can help in prediction of clinical pregnancy rates following fresh embryo transfer in patients with endometriosis.

OBJECTIVE To evaluate the safety， efficacy and economics of dapagliflozin in the treatment of type 2 diabetes mellitus （T2DM） combined with cardiovascular disease （CVD）， and provide an evidence-based basis for clinical treatment decisions. METHODS PubMed， the Cochrane Library， Embase， Web of Science， CNKI， Wanfang data， VIP， SinoMed and official websites of domestic and foreign health technology assessment （HTA） organizations were systematically searched. HTA reports， systematic evaluations/meta-analyses， and pharmacoeconomic studies of dapagliflozin in the treatment of T2DM combined with CVD were searched. After data extraction and quality assessment， the results of the included studies were analyzed descriptively. RESULTS A total of 13 papers were included， of which 10 were systematic evaluations/meta-analyses and 3 were pharmacoeconomic studies. In terms of efficacy， dapagliflozin significantly reduced patients’ glycosylated hemoglobin， body weight， body mass index and blood pressure levels compared with placebo， without increasing the risk of all-cause mortality； in terms of safety， dapagliflozin did not increase the risk of overall adverse events， major adverse cardiovascular events， cardiovascular death， hospitalization for heart failure， myocardial infarction， stroke， bone fracture and renal hypoplasia； in terms of economics， the UK and Chinese studies found an economic advantage for dapagliflozin， the Thai study did not. CONCLUSIONS Dagliflozin has better efficacy and safety in the treatment of T2DM combined with CVD， and its economic findings are still controversial in different countries， with economic advantages in the context of current Chinese healthcare policies and drug prices.

Objective:To investigate the correlation between gender, age, blood collection time, season and changes in cTnT concentration.Methods:In this study, 3548 patients (non-cardiovascular diseases) in Zhongshan Hospital of Fudan University were selected from 1 January to 31 December 2019. The basic data of the patients were collected, including gender, age, time of blood collection, medical history, clinical diagnosis, and results of cTnT testing. 1 840 males and 1 708 females were finally enrolled, with an age distribution of 65 (53, 75) years. The distribution of the data was assessed using the Kolmogorov-Smirnov (K-S) test, where non-normally distributed data were expressed as M( Q1, Q3). The Mann-Whitney U-test was used to compare cTnT concentrations between men and women, and to analyse the influence of gender on cTnT results. The Kruskal-Wallis test was used to compare cTnT levels between gender groups, to analyse the correlation between different times of blood collection, seasons, and other factors and cTnT concentrations. Result:cTnT concentrations increased with age in both males and females over the age of 60 years. cTnT levels were highest in individuals over the age of 90 years (0.028 ng/ml in males and 0.018 ng/ml in females). cTnT levels were higher in males (0.012 ng/ml) than in females (0.009 ng/ml) in all age groups ( H=6.340, P<0.01). The concentrations of cTnT varied at different time points of blood collection. In both males and females, cTnT concentrations reached a maximum at 8:00 and 13:00 (0.013 ng/ml and 0.012 ng/ml, respectively). Analysis of the physiological effect of season on cTnT secretion showed that cTnT levels were generally higher in spring and winter(0.012 ng/ml) than in summer and autumn(0.010 ng/ml). Conclusions:cTnT concentration is influenced by gender, age, time of blood collection and season. When analysing cTnT results in clinical practice, the gender and age of the individual should be taken into account, as well as the time point of blood collection and seasonal factors.

Objective:To explore the effect of comfort nursing intervention in hospice care for advanced cancer patients at home, and to provide reference for hospice care for advanced cancer patients at home.Methods:A randomized controlled trial was conducted. A total of 105 patients with advanced cancer who were treated in the Cancer Hospital Affiliated to Harbin Medical University from January to February 2023 were selected as the research objects. According to the random number table, they were divided into control group of 53 cases and intervention group of 52 cases. The control group received routine nursing methods, while the intervention group received comfort nursing interventions on this basis. The intervention lasted for 4 weeks. The changes in palliative care outcomes, quality of life and death anxiety were compared between the two groups before and after intervention.Results:Totally 105 cases were included, 53 cases in the control group and 52 cases in the intervention group. In the control group, there were 25 males, 28 females, aged (58.96 ± 10.71) years old; in the intervention group, there were 22 males, 30 females, aged (59.82 ± 10.53) years old. Before intervention, there was no statistically significant difference in palliative care outcomes, quality of life and cancer death anxiety scores between the two groups of patients (all P>0.05). After intervention, the total score of palliative care outcomes in the intervention group was (13.34 ± 5.88) points, significantly lower than (16.15 ± 5.72) points in the control group, with a statistically significant difference ( t = 2.48, P<0.05). The overall health status score of quality of life was (68.55 ± 9.34) points in the intervention group, higher than (63.01 ± 9.28) points in the control group ( t = 3.05, P<0.05). The total score of cancer death anxiety was (8.85 ± 2.72) points, significantly lower than (10.59 ± 3.14) points of the control group, with a statistically significant difference ( t = 3.04, P<0.05). Conclusions:The application of comfort nursing mode in home based hospice care can improve the quality of hospice care for advanced cancer patients, reduce their level of death anxiety, and is of great significance for improving the quality of life of advanced cancer patients.

Objective:To analyze the emergency sample testing time of VITROS XT 3400 biochemical testing system and evaluate its testing method.Method:Retrospective analysis was conducted on all specimens from the emergency laboratory department of our hospital from August 2020 to July 2022, including albumin(Alb), total protein(TP), aspartate amino transferase(AST), alanine aminotransferase(ALT), creatinine (Cr), blood Urea Nitrogen(BUN), calcium (Ca) and glucose (Glu) to calculate the utilization rate of composite dry slide projects. A total of 635 serum samples were collected from emergency patients in our hospital from June 20 to 26, 2022, and the difference in sample testing time was compared between VITROS XT 3400 (composite dry tablets) group and VITROS 4600 (ordinary dry tablets) group during low and peak periods. The difference in replacement reagent and daily maintenance time was also compared between the two groups.Result:The pairing rates of three projects (Alb-TP, AST-ALT, Cr-BUN) are all over 99%. The detection time of the VITROS XT 3400 group samples was significantly shorter than that of the VITROS 4600 group [(945±477) s compared to (1 101±567) s, t=20.378, P<0.001]. The detection time of the VITROS XT 3400 group samples during high and low peak periods was significantly shorter than that of the VITROS 4600 group [low peak period ( n=322): (857±567) s compared to (905±528) s, t=13.102, P<0.001; peak period ( n=313): (1 035±400) s compared to (1 303±492) s, t=21.876, P<0.001], The reagent replacement time of the VITROS XT 3400 group was significantly shorter than that of the VITROS 4600 group [(690±127) s vs (869±152) s, t=11.470, P<0.001]. There was no statistically significant difference in daily maintenance time between the VITROS XT 3400 group and the VITROS 4600 group [(1 771±123) s vs (1 765±95) s, t=0.238, P=0.834]. Conclusion:XT 3400 has faster detection speed when using the composite dry slides, which can better alleviate the detection pressure during peak hours.

Objective:To investigate the effectiveness and feasibility of whole exome sequencing (WES), as a molecular diagnosis technique, for adult patients with genetic diseases.Methods:The present retrospective analysis included 445 adult patients (ages 18-80 years) with suspected genetic diseases who underwent whole exome sequencing (WES) from August 2021 to December 2022. The pathogenicity classification of each variant was assessed in accordance with the recommendations developed by the American Society of Medical Genetics and Genomics.Results:The overall positive rate of WES among adult patients with suspected genetic diseases was 28.08% (125/445). The highest positive rate was observed in the age group of 41-50 years (34.33%, 23/67). Among the diagnosed genetic diseases, those affecting the cardiovascular system (63.16%, 84/133), nervous system (18.05%, 24/133), and endocrine system (13.53%, 18/133) ranked as the top three. The most common genetic diseases identified through WES in adult patients were hypertrophic cardiomyopathy (18.80%, 25/133), dilated cardiomyopathy (16.54%, 22/133), Marfan syndrome (15.04%, 20/133), epilepsy (9.02%, 12/133), and familial hypercholesterolemia (4.51%, 6/133). The main causative genes identified included FBN1 (14.29%, 19/133), MYBPC3 (9.02%, 12/133), MYH7 (9.02%, 12/133), LDLR (3.76%, 5/133), TTN (3.76%, 5/133), and TNNI3 (3.01%, 4/133).Conclusion:Applying the WES technique in clinical practice can improve the diagnostic rate of adult genetic diseases, especially in adult patients with suspected genetic conditions involving the cardiovascular system, nervous system, and endocrine system.

Cardiovascular and cerebrovascular diseases are one of the diseases with the highest mortality rate in the world, seriously affecting human health. Clinically, the abnormal values of myocardial injury markers are often detected to reflect the severity of myocardial injury and used as a reference index for screening, diagnosis, and prognosis of myocardial injury (abnormality). In this paper, the classification of metal-organic frameworks (MOFs) and their composites were introduced, and the research progress of electrochemical protein sensors, electrochemical immunosensors, and electrochemical aptamer sensors based on MOF composites for the detection of markers of myocardial injury was reviewed.