Objective:To analyze the breast cancer-related parameters and the ultrasonic features of positive axillary lymph nodes,to discuss the risk factors for axillary lymphnode metastatic burden,and to provide basis for preoperative evaluation of breast cancer patients.Methods:The ultrasonic and clinicopathological data of 574 breast cancer patients with axillary lymph node metastasis confirmed by surgery and pathology were retrospectively analyzed.According to the status of axillary lymphnode metastasis,the patients were divided into low nodal burden(LNB)group(n=283)and high nodal burden(HNB)group(n=291).The affected side,tumor quadrant,distance to skin,maximum diameter,internal echogenicity,shape,margin,calcification,blood supply,posterior echo,lymphnode long diameter,lymphnode short diameter,lymphnode aspect ratio,number of suspicious metastases,intranodal blood supply,lymphnode hilum morphology,age,pathological type,histological grade,molecular subtype,and the expressions of estrogen receptor(ER),progesterone receptor(PR),Ki-67,human epidermal growth factor receptor 2(HER2),and P53 were compared between two groups.Logistic regression was used to analyze the risk factors for axillary lymph node metastatic burden in the breast cancer patients;receiver operating characteristic(ROC)curve and area under the curve(AUC)were used to evaluate the predictive value.Results:The univariate analysis results showed that there were statistically significant differences in tumor quadrant,distance to skin,molecular subtype,HER2 positive expression,lymphnode long diameter,lymph node short diameter,lymph node aspect ratio,number of suspicious metastases,and lymphnode hilum morphology between two groups(P<0.05).The multivariate Logistic regression analysis results showed that tumor located in the upper outer quadrant(OR=0.648,P=0.021),distance to skin<5 mm(OR=0.283,P=0.016),Luminal A(OR=1.564,P=0.044),lymphnode long diameter≥20 mm(OR=2.050,P<0.01),lymphnode short diameter≥8.6 mm(OR=2.430,P<0.01),lymph node aspect ratio<2(OR=1.585,P<0.01),and indistinct lymphnode hilum structure(OR=2.092,P<0.01)were the independent risk factors for axillary lymphnode metastatic burden.The ROC curve analysis results showed that compared with the ultrasonic features of positive axillary lymph nodes,the AUC of the combination of breast cancer-related parameters and ultrasonic features of positive axillary lymphnodes was larger(Z=2.72,P=0.006 5),and it had higher predictive value for axillary lymphnode metastatic burden.Conclusion:The tumor quadrant,distance to skin,molecular subtype,lymphnode long diameter,lymph node short diameter,lymphnode aspect ratio,and lymphnode hilum structure are the independent risk factors for axillary lymphnode metastatic burden,and they have certain predictive value for axillary lymphnode metastatic burden.

Objective:To explore the potential causal relationships between major depressive disorder(MDD),anxiety disorder(AD)and various highly prevalent cancers from the genetic perspective.Methods:Sum-mary statistics from large-scale genome-wide association studies(GW AS)were analyzed using a bidirectional two-sample Mendelian randomization(MR)approach.The inverse variance weighting method(IVW)was usedas the main analytical approach.The intercept term of MR-Egger regression and the MR-PRESSO method were adopted for the pleiotropy test.Results:The IVW analysis revealed potential causal relationships between MDD and breast cancer[OR(95％CI):1.11(1.01-1.22),P＜0.05],AD and lung cancer[OR(95％CI):1.30(1.02-1.65),P＜0.05],and between colon cancer and MDD[OR(95％CI):1.05(1.00-1.11),P＜0.05].The results of the pleiotropy test showed that the intercept terms of the MR-Egger regression were not statistically significant,indica-ting the absence of pleiotropy.The MR-PRESSO method detected outliers only in the relationship between MDD and breast cancer.The association between MDD and breast cancer remained significant after correction for outliers[OR(95％CI):1.10(1.03-1.17),P＜0.05].Conclusion:The study suggests that MDD may be a risk factor for breast cancer,AD may increase the risk factor for lung cancer,and colon cancer may elevate the risk factor of MDD.Moreover,the possibility of reverse causal relationships has been excluded in all these cases.

Objective:To explore the potential causal relationships between major depressive disorder(MDD),anxiety disorder(AD)and various highly prevalent cancers from the genetic perspective.Methods:Sum-mary statistics from large-scale genome-wide association studies(GW AS)were analyzed using a bidirectional two-sample Mendelian randomization(MR)approach.The inverse variance weighting method(IVW)was usedas the main analytical approach.The intercept term of MR-Egger regression and the MR-PRESSO method were adopted for the pleiotropy test.Results:The IVW analysis revealed potential causal relationships between MDD and breast cancer[OR(95％CI):1.11(1.01-1.22),P＜0.05],AD and lung cancer[OR(95％CI):1.30(1.02-1.65),P＜0.05],and between colon cancer and MDD[OR(95％CI):1.05(1.00-1.11),P＜0.05].The results of the pleiotropy test showed that the intercept terms of the MR-Egger regression were not statistically significant,indica-ting the absence of pleiotropy.The MR-PRESSO method detected outliers only in the relationship between MDD and breast cancer.The association between MDD and breast cancer remained significant after correction for outliers[OR(95％CI):1.10(1.03-1.17),P＜0.05].Conclusion:The study suggests that MDD may be a risk factor for breast cancer,AD may increase the risk factor for lung cancer,and colon cancer may elevate the risk factor of MDD.Moreover,the possibility of reverse causal relationships has been excluded in all these cases.

Objective: To investigate the causal relationship between gut microbiota and constipation using Mendelian randomization (MR) method. Methods: Genetic variation data of gut microbiota were obtained from the MiBioGen Consortium database. The genetic variation data of constipation were sourced from the IEU Open GWAS database. A forward MR analysis was performed using the inverse-variance weighted (IVW) method with 2 511 SNPs associated with gut microbiota as instrumental variables, and constipation as study outcome, and a reverse MR analysis was performed with 13 microbiota-associated SNPs as instrumental variables and gut microbiota as study outcome. The heterogeneity was assessed using the Cochran test, reverse causation of SNP were examined using MR Steiger test, and the horizontal pleiotropy was assessed using the MR-PRESSO test and MR-Egger regression. In addition, the robustness of the results was verified with the leave-one-out. Results: Forward MR analysis results showed that an increased abundance of genus Coprococcus1 driven by host genetics was associated with a decreased risk of constipation (OR=0.791, 95%CI: 0.709-0.884), and increased abundance of phylum Bacteroidetes driven by host genetics was associated with an increased risk of constipation (OR=1.240, 95%CI: 1.102-1.394). Cochran test detected no heterogeneity (both P>0.05), MR Steiger test was not revealed reverse causation of SNP, and neither the MR-PRESSO test nor the MR-Egger regression revealed horizontal pleiotropy of instrumental variables (all P>0.05), and the leave-one-out method confirmed the robustness of results. Reverse MR analysis showed no association between gut microbiota and constipation (both P>0.05). Conclusion Genus Coprococcus1 and phylum Bacteroidetes in the gut microbiota are associated with constipation.

Objective:To investigate the clinical features of 17q12 microdeletion cases before and after delivery, and provide a reference for prenatal diagnosis and genetic counseling.Methods:A retrospective analysis was conducted on five fetuses diagnosed with 17q12 microdeletion by single nucleotide polymorphism array in Quanzhou Women's and Children's Hospital between April 2020 and June 2023. Clinical data including prenatal ultrasonography findings, genetic causes, parental clinical features, and postnatal outcomes were summarized and analyzed using descriptive statistical analysis.Results:The five fetuses had normal results of karyotype analysis of amniotic fluid, but carried a microdeletion of 1.4 to 1.8 Mb in the 17q12 region of the chromosome, involving 20 genes listed in the Online Mendelian Inheritance in Man database. Pedigree verification was performed on all five cases and the results indicated one maternally inherited case with the mother having polycystic kidneys complicated by left hydronephrosis, one de novo case, and three paternally inherited cases with one father having multiple cysts in both kidneys and two fathers showing no abnormalities. Multiple abnormalities were found in the five fetuses by prenatal ultrasonography, including enhanced renal parenchymal echogenicity in four cases and pyelectasis in one case. Two cases chose to terminate the pregnancies, while the other three continued the pregnancies to full term. Postnatal follow-ups showed that one case was normal in growth and development with no abnormalities by renal ultrasound; one case developed polycystic kidney; one case with normal renal ultrasound findings had a speech disorder and symptoms of suspected autism at the age of three. Conclusions:The main manifestation of 17q12 microdeletion is enhanced renal parenchymal echogenicity in the fetal stage and postnatal polycystic kidney. In prenatally diagnosed cases, pedigree verification is necessary as an objective and scientific genetic counseling is helpful in pregnancy decision-making.

OBJECTIVE: To carry out genetic analysis for a fetus with confined placental mosaicism (CPM) for trisomy 2 (T2) in conjunct with fetal uniparental disomy (UPD). METHODS: Amniocentesis and chromosomal karyotyping was carried out for a pregnant woman with a high risk for chromosome 2 anomalies indicated by non-invasive prenatal testing (NIPT). Single nucleotide polymorphism array (SNP-array) and trio-whole exome sequencing (Trio-WES) were carried out. Ultrasonography was used to closely monitor the fetal growth. Multifocal sampling of the placenta was performed after delivery for copy number variation sequencing (CNV-seq). RESULTS: The fetus was found to have a normal chromosomal karyotype. SNP-array has revealed multiple regions with loss of heterozygosity (LOH) on chromosome 2. Trio-WES confirmed the presence of maternal UPD for chromosome 2. Ultrasonography has revealed intrauterine growth restriction and oligohydramnios. Intrauterine fetal demise had occurred at 23⁺⁴ weeks of gestation. Pathological examination had failed to find salient visceral abnormality. The placenta was proved to contain complete T2 by CNV-seq. CONCLUSION T2 CPM can cause false positive result for NIPT and may be complicated with fetal UPD, leading to adverse obstetric outcomes such as intrauterine growth restriction, oligohydramnios and intrauterine fetal demise.
Female ; Humans ; Pregnancy ; Amniocentesis ; Chromosomes, Human, Pair 2/genetics* ; DNA Copy Number Variations ; Fetal Death ; Fetal Growth Retardation/genetics* ; Fetus ; Mosaicism ; Oligohydramnios ; Placenta ; Trisomy/genetics* ; Uniparental Disomy/genetics*

Transcatheter tricuspid valve intervention is the new frontier of interventional cardiology. The LuX-Valve is a radial force-independent orthotopic tricuspid valve replacement device developed in China. The LuX-Valve Plus transcatheter tricuspid valve replacement (TTVR) system is changed from the trans-atrial to the transjugular approach, which further reduces trauma and pulmonary complications compared with the first generation LuX-Valve. The first-in-human study has been completed at Zhongshan Hospital, Fudan University and an exploratory multicentre clinical study is underway. Echocardiography plays an important role in pre-TTVR screening, intraoperative guidance and postoperative evaluation and follow-up, especially two-dimensional transoesophageal echocardiography (2D-TEE) and three-dimensional transoesophageal echocardiography (3D-TEE). However, there is a lack of appropriate intraoperative guidance and assessment protocols. In this study, we briefly described the protocols and imaging considerations for intraoperative 2D-TEE and 3D-TEE to ensure the successful implantation of TTVR.

Objective To use feature selection and Likert grading method to quantify the data of lung cancer medical records,to construct a deep extreme learning machine model optimized by the sparrow search algorithm,to classify and predict the syndrome types of traditional Chinese medicine medical record data of lung cancer,and to provide scientific and effective research on syndrome type classification of traditional Chinese medicine.means.Methods The medical records of 497 cases diagnosed with lung cancer from January 2015 to December 2021 were collected from the Affiliated Hospital of Jiangxi University of Traditional Chinese Medicine,and 412 medical records were screened as the research objects.Syndromic factors of different syndromes were summarized by feature selection and feature importance ranking,and the syndrome factors were quantified by Likert grading method.Build a deep extreme learning machine optimized based on the sparrow search algorithm,and train and test the model.Finally,the model built in this paper is compared with other machine learning models according to three evaluation criteria.Results The average classification accuracy of the SSA-DELM model established in this paper was 88.44%,while the average accuracy of the support vector machine and Bayesian network was 83.39%and 84.53%,respectively.The recall rate and F1 value of the SSA-DELM model on the five syndrome types are mostly above 80%,which is also better than other traditional machine learning models.Conclusion The results of the study show that the use of feature selection combined with Likert grading method to quantify the lung cancer medical record data,compared with the 0-1 processing data,can show the characteristics of the data,improve the accuracy of the classification model,SSA-DELM new Compared with other traditional machine learning classification models,the model has better representation learning ability and learning speed.This model not only provides a scientific and technical means for the clinical treatment of lung cancer,but also provides a useful reference for the informatization and intelligent development of TCM syndrome differentiation and treatment.

Objective:To evaluate the value of lymph node regional sorting in radical colorectal cancer surgery.Methods:Between Jan 2021 and Mar 2022, A total of 307 colorectal cancer patients undergoing radical surgery at the Tianjin Medical University General Hospital were retrospectively included and assigned to either the lymph node regional sorting group (123) or no-sorting group (184) according to the lymph node examination methods.Results:There was a significant difference between the two groups in the number of total lymph nodes and negative lymph nodes (26.74±13.08 vs. 16.80±4.87, t=9.381, P<0.001; 25.65±13.25 vs. 16.04±4.87, t=8.979, P<0.001). The number of positive lymph nodes of lymph node regional sorting group increased compared with no-sorting group (1.09±2.28 vs. 0.76±1.34, t=1.589, P=0.113). A total of 52 cases in the lymph node regional sorting group showed metastasis, of which 10 showed lymph node skip metastases. There was no significant difference in tumor location and TNM stage between skip and non-skip lymph node metastasis patients. Conclusions:The lymph node regional sorting increase the number of examined lymph nodes. The method can determine the positive lymph node distribution and ensure the accuracy of staging.

Objective:To observe and analyze the function of intestinal barrier in patients with pouchitis, and to explore the role of nucleotide oligomerization domain 2 (NOD2) in ileal pouchitis, so as to provide new ideas for the pathogenesis of pouchitis.Methods:From January 2011 to December 2016, the clinical pathological data of patients with ileal pouch-anal anastomosis who underwent pouch mucosa biopsy at the Endoscopy Center of General Hospital of Tianjin Medical University were retrospectively analyzed. According to the disease activity index of pouchitis, patients were divided into pouchitis group (20 cases) and non-pouchitis group (30 cases). In addition, UC patients who did not undergo surgery were selected as the control group (10 cases). The intestinal structure of patients of the pouchitis group and non-pouchitis group was observed under transmission electron microscope. The positive expression rates of occludin, alpha human defensin and NOD2 in the control group, non-pouchitis group and pouchitis group were detected and calculated by immunohistochemistry. Levene test, independent sample t test and Spearman correlation analysis were used for statistical analysis. Results:Under the transmission electron microscope, the tight junction epithelial structure and microvilli of intestinal mucosal of patients in the pouchitis group were severely injured. The results of immunohistochemistry showed that the positive expression rates of occludin, alpha human defensin and NOD2 in the intestinal mucosa of patients in the pouchitis group were all lower than those of the control group and non-pouchitis groups ((19.3±0.4)% vs. (84.0±0.3)% and (77.9±0.5)%; (60.0±1.3)% vs. (85.0±0.1)% and (77.3±0.4)%; (46.1±1.6)% vs. (72.0±0.7)% and (60.7±0.5)%), and the differences were statistically significant ( t=-8.451, -7.514, -3.943, -2.970, -5.115 and -2.982, all P<0.05). The correlation analysis showed that the expression level of NOD2 was positively correlated with occludin and alpha human defensin ( r=0.671 and 0.628, both P<0.01). Conclusions:Intestinal barrier function is impaired in patients with ileal pouchitis, and NOD2-related intestinal barrier injury may play an important role in the pathogenesis of ileal pouchitis.