Objective To explore the clinical application value of multimodal radiomics in differentiating parotid pleomorphic adenoma(PA)from adenolymphoma(AL).Methods The clinical and imaging data of 68 cases of PA and 52 cases of AL were retrospectively analyzed.All patients underwent ultrasound examination,enhanced CT scan and enhanced MRI scan of the neck before the operation.All patients were randomly divided into training group(n=84)and validation group(n=36)according to the ratio of 7∶3.The 3D Slicer software was used to manually draw the lesion area of the preoperative images and perform radiomics feature extraction.The best feature subset was selected to establish the radiomics model,and the diagnostic efficacy of different models was evaluated by the receiver operating characteristic(ROC)curve.Results The study found that age,gender,and smoking history were effective in differentiating parotid PA from AL,and were used to construct a clinical diagnostic model.Eighteen features were selected through dimensionality reduction to establish the radiomics model.A multimodal combined diagnostic model was then constructed by integrating the radiomics model with gender,age,and smoking history.Compared to the clinical model and the radiomics model,the multimodal combined diagnostic model demonstrated the highest area under the curve(AUC)for distinguishing PA from AL in both the training group and the validation group.Conclusion The combination of radiomics based on neck ultrasound,CT,and MRI with clinical characteristics shows significant clinical application value in the preoperative differentiation of PA and AL.

Objective To explore the clinical application value of multimodal radiomics in differentiating parotid pleomorphic adenoma(PA)from adenolymphoma(AL).Methods The clinical and imaging data of 68 cases of PA and 52 cases of AL were retrospectively analyzed.All patients underwent ultrasound examination,enhanced CT scan and enhanced MRI scan of the neck before the operation.All patients were randomly divided into training group(n=84)and validation group(n=36)according to the ratio of 7∶3.The 3D Slicer software was used to manually draw the lesion area of the preoperative images and perform radiomics feature extraction.The best feature subset was selected to establish the radiomics model,and the diagnostic efficacy of different models was evaluated by the receiver operating characteristic(ROC)curve.Results The study found that age,gender,and smoking history were effective in differentiating parotid PA from AL,and were used to construct a clinical diagnostic model.Eighteen features were selected through dimensionality reduction to establish the radiomics model.A multimodal combined diagnostic model was then constructed by integrating the radiomics model with gender,age,and smoking history.Compared to the clinical model and the radiomics model,the multimodal combined diagnostic model demonstrated the highest area under the curve(AUC)for distinguishing PA from AL in both the training group and the validation group.Conclusion The combination of radiomics based on neck ultrasound,CT,and MRI with clinical characteristics shows significant clinical application value in the preoperative differentiation of PA and AL.

OBJECTIVETo assess the value of genetic testing for Fragile X syndrome (FXS).

METHODSA domestically made diagnostic kit based Tri-primer-PCR method was used to detect mutations of the FMR1 gene among 6 pedigrees with unexplained intellectual disability. The results were verified by methylation PCR and Southern blotting.

RESULTSPedigrees 1 and 6 were positive for the screening. In pedigree 1, a full-mutation allele with methylation was identified in the proband and his mother, which was passed on to the fetus. In pedigree 6, the proband was mosaic for a full-mutation allele and a pre-mutation allele. His sister was asymptomatic with a full-mutation. His mother carried pre-mutation allele, while his father and sister's baby were normal. The number of CGG repeats of the pedigrees 2 to 5 were in the normal range.

CONCLUSIONGenetic testing can provide an effective way to prevent FXS caused by FMR1 mutations and enable prenatal diagnosis for families with a high risk for the disease.

Objective To study the mechanism of interferon-γ(IFN-γ)on the intervention of renal carcinoma cell proliferation.Methods Using concentration of 1 000,2 000,3 000 U/mL IFN-γtreatment of renal cell carcinoma 786-0 cell line,in 24 hours,48 hours,72 hours after treatment,the inhibition rate of cell proliferation was determined with CCK-8 method,using flow cytometric analysis of cell cycle,using RT-PCR for detection of hepaCAM mRNA,and using the Western boltting method for detection of MAD1 protein expression.Results Different concentrations of IFN-γhad the inhibitory effects on renal cell carcinoma cell proliferation,the concentration of the inhibitory rate of 72 hoursand 48 hours more than 24 hours,the difference was statistically significant (P<0.05);at the same time,a higher IFN-γconcentration,the inhibition rate was greater,the difference was statistically significant (P<0.05 );the cell cycle distribution results showed,the experimental group of renal carcinoma cells proliferation in the treatment of abnormal G0/G1 phase after 48 hours;and the control group (39.89 )compared with the experimental group,the proliferation index (25.65 )decreased significantly,the difference was statistically significant (P<0.05 );results showed that,the experimental group in renal cell carcinoma cells after 48 h of treatment,compared with control group,hepaCNM mRNA,MAD1 protein expression increased obviously,the difference was statistically significant (P<0.05 ).Conclusion IFN-γcould increase the expression of MAD1 by promoting hepaCAM expression,inhibits renal carcinoma cell proliferation.