Background and Aims:Mucinous adenocarcinoma of the colorectum(MAC)is a distinct histologic subtype of colorectal cancer characterized by high malignancy and low diagnostic accuracy of preoperative biopsy,posing challenges for clinical decision-making.Given the critical role of the inflammatory microenvironment in tumor progression,this study aimed to develop and validate a nomogram model integrating preoperative systemic inflammatory indicators and clinical features to improve the preoperative diagnosis of MAC.Methods:Clinical data of 293 patients with colorectal cancer who underwent radical resection between June 2017 and June 2022 at the First Affiliated Hospital of the University of South China were retrospectively analyzed.Based on postoperative pathology,patients were classified into the mucinous adenocarcinoma(MAC)group and the non-specific adenocarcinoma(AC)group.Propensity score matching(PSM,1∶1)was used to balance age,T stage,and N stage.Differences in preoperative inflammatory indices were compared between groups.Univariate and multivariate logistic regression analyses were performed to identify independent predictors of MAC,which were incorporated into a diagnostic nomogram.The model's discrimination,calibration,and clinical utility were evaluated using the area under the receiver operating characteristic curve(AUC),calibration plots,and decision curve analysis(DCA).Results:Among the 293 patients,46 had MAC and 247 had AC,with a preoperative colonoscopic diagnostic rate of 54%for MAC.After PSM(43 pairs),platelet count,platelet lymphocyte ratio(PLR),systemic immune inflammation index(SII),inflammation related prognostic index(IPI),and systemic inflammation score(SIS)were significantly higher in the MAC group,while lymphocyte monocyte ratio(LMR)was lower(all P<0.05).Multivariate analysis identified tumor location,maximum tumor diameter,and preoperative IPI as independent predictors.The AUCs of the nomogram in the training(n=206)and validation(n=87)cohorts were 0.759(95%CI=0.662-0.856)and 0.776(95%CI=0.649-0.903),respectively.Calibration plots showed good agreement between predicted and observed probabilities,and DCA demonstrated satisfactory clinical applicability.Conclusion:A nomogram model integrating tumor location,tumor size,and preoperative IPI was successfully developed and validated for preoperative diagnosis of colorectal MAC.This model provides a practical,quantitative tool with good predictive performance to assist clinicians in individualized treatment planning,particularly for patients ineligible for surgical biopsy.

Background and Aims:Mucinous adenocarcinoma of the colorectum(MAC)is a distinct histologic subtype of colorectal cancer characterized by high malignancy and low diagnostic accuracy of preoperative biopsy,posing challenges for clinical decision-making.Given the critical role of the inflammatory microenvironment in tumor progression,this study aimed to develop and validate a nomogram model integrating preoperative systemic inflammatory indicators and clinical features to improve the preoperative diagnosis of MAC.Methods:Clinical data of 293 patients with colorectal cancer who underwent radical resection between June 2017 and June 2022 at the First Affiliated Hospital of the University of South China were retrospectively analyzed.Based on postoperative pathology,patients were classified into the mucinous adenocarcinoma(MAC)group and the non-specific adenocarcinoma(AC)group.Propensity score matching(PSM,1∶1)was used to balance age,T stage,and N stage.Differences in preoperative inflammatory indices were compared between groups.Univariate and multivariate logistic regression analyses were performed to identify independent predictors of MAC,which were incorporated into a diagnostic nomogram.The model's discrimination,calibration,and clinical utility were evaluated using the area under the receiver operating characteristic curve(AUC),calibration plots,and decision curve analysis(DCA).Results:Among the 293 patients,46 had MAC and 247 had AC,with a preoperative colonoscopic diagnostic rate of 54%for MAC.After PSM(43 pairs),platelet count,platelet lymphocyte ratio(PLR),systemic immune inflammation index(SII),inflammation related prognostic index(IPI),and systemic inflammation score(SIS)were significantly higher in the MAC group,while lymphocyte monocyte ratio(LMR)was lower(all P<0.05).Multivariate analysis identified tumor location,maximum tumor diameter,and preoperative IPI as independent predictors.The AUCs of the nomogram in the training(n=206)and validation(n=87)cohorts were 0.759(95%CI=0.662-0.856)and 0.776(95%CI=0.649-0.903),respectively.Calibration plots showed good agreement between predicted and observed probabilities,and DCA demonstrated satisfactory clinical applicability.Conclusion:A nomogram model integrating tumor location,tumor size,and preoperative IPI was successfully developed and validated for preoperative diagnosis of colorectal MAC.This model provides a practical,quantitative tool with good predictive performance to assist clinicians in individualized treatment planning,particularly for patients ineligible for surgical biopsy.

Objective To investigate the impact of the interaction of fasting blood glucose(FBG)and serum uric acid(SUA)on diabetic retinopathy(DR).Methods A total of 306 diabetes mellitus(DM)patients diagnosed and re-ceived comprehensive ophthalmic examination in the First Affiliated Hospital of Gannan Medical University from January 2019 to January 2021 were selected.According to the presence or absence of DR,these patients were divided into the DR group(178 patients)and the non-DR(NDR)group(128 patients).The general clinical data of patients in the two groups were compared.The least absolute shrinkage and selection operator(LASSO)regression method and multivariate Logistic regression analysis were used to screen the independent influencing factors of DR in DM patients,and the odds ratio of risk factors was calculated.The sensitivity analysis of the results was performed using the E-value method.The interaction of FBG and SUA on DR in DM patients was analyzed by an additive interaction model.The Nomogram model to predict DR in DM patients was constructed and verified internally.The receiver operating characteristic curve(ROC)was used to evalu-ate the effects of FBG,SUA and both FBG and SUA on DR in DM patients.Results Compared with the NDR group,the course of DM in the DR group was significantly longer,the proportion of patients with history of oral medication was signif-icantly lower,the proportion of patients with history of insulin therapy was significantly higher,and the levels of total cho-lesterol,triglyceride,low-density lipoprotein cholesterol,high-density lipoprotein cholesterol,blood urea nitrogen,serum creatinine,SUA and FBG were significantly higher(all P＜0.05).The history of insulin therapy,course of DM≥9.66 years,TG≥2.07 mmol·L-1,SUA ≥ 297.73 μmol·L-1 and FBG ≥8.92 mmol·L-1 were the risk factors for DR in DM pa-tients,while the history of oral medication was the protective factor for DR in DM patients.The Nomogram model based on the above independent risk factors was accurate in predicting the occurrence of DR in DM patients.SUA and FBG had inter-active effects on DR in DM patients.The value of SUA-FBG interaction in the diagnosis of DR was greater than that of both alone.Conclusion SUA≥ 297.73 μmol·L-1 and FBG ≥8.92 mmol·L-1 are the risk factors for DR in DM patients.The value of interaction of FBG and SUA in the diagnosis of DM accompanied by DR is greater than that of both alone.

OBJECTIVE: To explore the genetic basis for a patient with autism. METHODS: High-throughput sequencing was carried out to detect copy number variations in the patient. RESULTS: DNA sequencing found that the patient has carried a 0.11 Mb deletion in distal 2p16.3 spanning from genomic position 50 820 001 to 50 922 000, which resulted removal of exon 6 and part of intron 7 of the NRXN1 gene. The same deletion was not found his parents and brother. CONCLUSION Partial deletion of the NRXN1 gene may underlie the disease in this patient.
Autistic Disorder ; genetics ; Cell Adhesion Molecules, Neuronal ; genetics ; DNA Copy Number Variations ; Gene Deletion ; Humans ; Male ; Nerve Tissue Proteins ; genetics

Objective: To explore the genetic basis for a patient with autism. Methods: High-throughput sequencing was carried out to detect copy number variations in the patient. Results: DNA sequencing found that the patient has carried a 0.11 Mb deletion in distal 2p16.3 spanning from genomic position 50 820 001 to 50 922 000, which resulted removal of exon 6 and part of intron 7 of the NRXN1 gene. The same deletion was not found his parents and brother. Conclusion Partial deletion of the NRXN1 gene may underlie the disease in this patient.

Objective To assess the clinical diagnosis value and treatment effect of anti-Müllerian hormone(AMH)and inhibin B(INHB)in polycystic ovary syndrome(PCOS)patients.Methods Total of 300 cases of PCOS patients were enrolled in this study from January 2014 to January 2016 in the First Affiliated Hospital,Hunan University of Chinese Medicine,and those patients were randomly divided into group A,group B and group C.There were 100 patients in every group.The patients in group A were interfered by traditional Chinese medicine.The patients in group B were treated with Western medicine and those in group C were treated with traditional Chinese medicine combined with western medicine.Total of 264 cases health volunteers were enrolled as the control group.The effect was evaluated.The level of AMH and INHB in serum of PCOS patients were detected by chemiluminescent assay before treatment and three months after treatment.Results The cutoffs of AMH and INHB were 6.98 ng/ml and 150 pg/ml,respectively.The AUC of AMH combined with INHB was significantly larger than that of AMH or INHB(0.945 vs.0.859,0.945 vs.0.784).In the PCOS group,the positive PCOS rate of AMH combined with INHB was significantly larger than that of AMH or INHB[87.00％(261/300)vs.83.33％(250/300)vs.93.67％(281/300),x2=15.593,P=0.000].The sensitivity[93.67％(281/300)],specificity[92.42％(244/264)],positive predictive value[93.36％(281/288)],negative predictive value[92.78％(244/264)]and Jordanian index(0.659)of AMH combined with INHB was significantly larger than that of AMH[87.00％(261/300),87.88％(232/264),89.08％(261/293),85.61％(232/271)and 0.612]or INHB[83.33％(250/300),90.15％(238/264),90.58％(250/276),82.64％(238/301)and 0.571].After treatment,AMH[(9.06±2.13)ng/ml vs.(6.34±1.12)ng/ml,t=10.595,P=0.000;(9.08±2.08)ng/ml vs.(6.02±1.02)ng/ml,t=13.209,P=0.000;(9.13±2.31)ng/ml vs.(3.53±0.83)ng/ml,t=22.814,P=0.000]and INHB[(173.13±14.22)pg/ml vs.(145.26±13.05)pg/ml,t=14.440,P=0.000;(174.28±13.82)pg/ml vs.(145.39±12.98)pg/ml,t=15.238,P=0.000;(174.98±13.77)pg/ml vs.(133.15±12.04)pg/ml,t=22.869,P=0.000]in 3 groups had decreased.After treatment,the AMH of group C [(3.53±0.83)ng/ml] was significantly lower than that of group A and B[(6.34±1.12)ng/ml and(6.02±1.02)ng/ml,F=237.936,P=0.000],and the level of AMH in group C [(133.15±12.04)pg/ml] was significantly lower than that in both group A and group B[(145.26±13.05)pg/ml and(145.39±12.98)pg/ml,F=30.645,P=0.000].Conclusions AMH combined with INHB can be used to diagnose PCOS.AMH and INHB can be used to evaluate PCOS efficacy.

Objective To investigate the expression of miR?126, miR?355 and exportin?5 in lung cancer. Methods The cancer tissue and the tissue adjacent to carcinoma of 47 cases of patients with lung cancer was used to detect the expression of miR?126, miR?355 and Exportin?5 by the real?time fluorescence quantitative PCR. Results Significant difference of the expression of miR?126 (t=2.02,P=0.03) and exportin?5 (t=4.62,P<0.01) was observed in lung cancer tissue and tissue adjacent to carcinoma. Mature miR?126 and pri?miR?126 (R=0.309 , P = 0.044) had a negative correlation in the tissue adjacent to carcinoma. In the cancer tissue,miR?126 and MRP (R=0.432, P=0.019), miR?335 and k167 (R=0.410, P=0.033) were positively correlated, however, exportin?5 and TOPO (R=0.357, P=0.045), the pri?miR?126 and drinking (R=0.340, P=0.024), the pri?miR?126 and MRP (R=0.427, P=0.027) had a negative correlation relationship. Conclusion Expression of miR?126 and exportin?5 was decreased in lung cancer tissue, which may contribute to the occurrence and development of lung cancer.