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 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 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.

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.

Patients with severe trauma require an extremely timely treatment and transfusion plays an irreplaceable role in the emergency treatment of such patients. An increasing number of evidence-based medicinal evidences and clinical practices suggest that patients with severe traumatic bleeding benefit from early transfusion of low-titer group O whole blood or hemostatic resuscitation with red blood cells, plasma and platelet of a balanced ratio. However, the current domestic mode of blood supply cannot fully meet the requirements of timely and effective blood transfusion for emergency treatment of patients with severe trauma in clinical practice. In order to solve the key problems in blood supply and blood transfusion strategies for emergency treatment of severe trauma, Branch of Clinical Transfusion Medicine of Chinese Medical Association, Group for Trauma Emergency Care and Multiple Injuries of Trauma Branch of Chinese Medical Association, Young Scholar Group of Disaster Medicine Branch of Chinese Medical Association organized domestic experts of blood transfusion medicine and trauma treatment to jointly formulate Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients ( version 2024). Based on the evidence-based medical evidence and Delphi method of expert consultation and voting, 10 recommendations were put forward from two aspects of blood support mode and transfusion strategies, aiming to provide a reference for transfusion resuscitation in the emergency treatment of severe trauma and further improve the success rate of treatment of patients with severe trauma.

Objective:To exlplore the association between the baseline luteinizing hormone/follicle stimulating hormone (LH/FSH) ratio of polycystic ovary syndrome (PCOS) and in vitro fertilisation-embryo transfer outcomes.Methods:This was a retrospective cohort study. A total of 2 868 PCOS patients were enrolled, all of the participants were patients in The First Affiliated Hospital of Anhui Medical University Hospital from October 2015 to October 2021. Propensity score matching (1∶2.5) was conducted to regulate the non-random allocation of patients. Data were extracted from the hospital′s medical records. Patients with baseline LH/FSH ratio>2 were deemed as study group, patients with baseline LH/FSH ratio≤2 were deemed as control group. Single factor analysis was applied to compare the differences of pregnancy outcomes between two groups.Results:After propensity score matching (1∶2.5), there were no statistically significant differences in baseline data between the two groups (all P>0.05), indicating that the data were comparable. In the study group, the total dose of gonadotropin (Gn) and duration of Gn were lower than those of the control group ( t=4.989, P<0.001; t=3.267, P=0.001), the rate of in vitro maturation was higher than that of the control group ( χ2=4.938, P=0.026), the number of retrieved oocytes and cleavage were higher than those of the control group ( t=-2.305, P=0.021; t=-2.816, P=0.005), but there were no differences in the number and rate of high-quality embryos between the two groups ( t=-1.636, P=0.102; t=-0.123, P=0.902). The incidence of moderate to severe ovarian hyperstimulation syndrome in the study group was significantly higher than that in the control group ( χ2=17.277, P<0.001). Regardless of fresh embryo transfer or frozen-thawed embryo transfer cycles, the incidences of gestational diabetes mellitus in the study group were higher than those in the control group ( χ2=9.174, P=0.002; χ2=4.204, P=0.040) of singleton pregnancy. In the fresh embryo transfer cycle, the clinical pregnancy rate [30.30% (20/66) vs 47.75% (53/111)] and delivery rate [30.30% (20/66) vs 46.85% (52/111)] in the study group were lower than those in the control group ( χ2=5.198, P=0.023; χ2=4.695, P=0.030). In the frozen-thawed embryo transfer cycle, the delivery rate in the study group was higer than that in the control group [59.41% (423/712) vs 55.04% (1 053/1 913); χ2=7.526, P=0.023]. The clinical pregnancy rate and delivery rate of fresh embryo transfer cycle in the study group were significantly lower than those of frozen-thawed embryo transfer cycle ( χ2=21.308, P<0.001; χ2=20.871, P<0.001), but there were no significant differences in the control group (all P>0.05). Conclusions:PCOS patients with a higher basal LH/FSH ratio are more likely to develop moderate to severe ovarian hyperstimulation syndrome after controlled ovarian stimulation and have a higher incidence of gestational diabetes mellitus. Better pregnancy outcome could be obtained by frozen-thawed embryo transfer.

Objective:To retrospectively analyze the treatment status of tyrosine kinase inhibitors (TKI) in newly diagnosed patients with chronic myeloid leukemia (CML) in China.Methods:Data of chronic phase (CP) and accelerated phase (AP) CML patients diagnosed from January 2006 to December 2022 from 77 centers, ≥18 years old, and receiving initial imatinib, nilotinib, dasatinib or flumatinib-therapy within 6 months after diagnosis in China with complete data were retrospectively interrogated. The choice of initial TKI, current TKI medications, treatment switch and reasons, treatment responses and outcomes as well as the variables associated with them were analyzed.Results:6 893 patients in CP ( n=6 453, 93.6%) or AP ( n=440, 6.4%) receiving initial imatinib ( n=4 906, 71.2%), nilotinib ( n=1 157, 16.8%), dasatinib ( n=298, 4.3%) or flumatinib ( n=532, 7.2%) -therapy. With the median follow-up of 43 ( IQR 22-75) months, 1 581 (22.9%) patients switched TKI due to resistance ( n=1 055, 15.3%), intolerance ( n=248, 3.6%), pursuit of better efficacy ( n=168, 2.4%), economic or other reasons ( n=110, 1.6%). The frequency of switching TKI in AP patients was significantly-higher than that in CP patients (44.1% vs 21.5%, P<0.001), and more AP patients switched TKI due to resistance than CP patients (75.3% vs 66.1%, P=0.011). Multi-variable analyses showed that male, lower HGB concentration and ELTS intermediate/high-risk cohort were associated with lower cytogenetic and molecular responses rate and poor outcomes in CP patients; higher WBC count and initial the second-generation TKI treatment, the higher response rates; Ph + ACA at diagnosis, poor PFS. However, Sokal intermediate/high-risk cohort was only significantly-associated with lower CCyR and MMR rates and the poor PFS. Lower HGB concentration and larger spleen size were significantly-associated with the lower cytogenetic and molecular response rates in AP patients; initial the second-generation TKI treatment, the higher treatment response rates; lower PLT count, higher blasts and Ph + ACA, poorer TFS; Ph + ACA, poorer OS. Conclusion:At present, the vast majority of newly-diagnosed CML-CP or AP patients could benefit from TKI treatment in the long term with the good treatment responses and survival outcomes.

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.