Objective To evaluate the prediction of microvascular invasion(MVI)and its grading in patients with hepatocellular carcinoma(HCC)by computed tomography(CT)and magnetic resonance imaging(MRI)features combined with laboratory indices.Methods Using plain and enhanced CT and MRI scan to examine the participants preoperatively,the features of tumor length diam-eter,shape,number,margin and tumor capsule,whether multiple nodules are fused,whether external convex nodules are visible locally,whether blood supply vessels are visible inside or degeneration or necrosis exists,and whether low density or signal exists around the tumor that are extracted from the examination results,combined with clinical indicators,such as age,preoperative alpha-fetoprotein(AFP)level,and presence of hepatitis B surface and e antigens to analyze the occurrence of MVI in patients with HCC.Results Patients with HCC and MVI were more likely to have elevated AFP;the larger the tumor length and diameter,the higher the incidence of MVI.CT and MRI showed that the features of blurred tumor edges and incomplete local capsule were independent risk factors for MVI of HCC.All the extracted image features and clinical indicators had no predictive value for MVI grading.Conclusion A few imaging features and clin-ical indicators of HCC have definite predictive value for the occurrence of MVI.

Objective:Through the investigation of the pathogenicity of COL4A4 heterozygous splicing mutations and the genotype-phenotype correlation in autosomal dominant Alport syndrome (ADAS), to better understand the impact of COL4A4 heterozygous splicing mutations on ADAS. Methods:The study was a case series analysis. Patients from 5 ADAS families with COL4A4 heterozygous splicing mutations detected by whole exome sequencing were recruited by three hospitals. In vivo transcriptional analysis and/or in vitro minigene splicing assay were conducted to determine the splicing patterns and assess the pathogenicity of COL4A4 heterozygous splicing mutations. Results:In the five ADAS pedigrees carrying COL4A4 heterozygous splicing mutations, four novel ADAS splicing patterns were described. In pedigree 1-4, most patients presented with continuous hematuria or/and microalbuminuria. Otherwise,the proband in pedigree 4 presented with macroalbuminuria and the proband in pedigree 1 had progressed to chronic kidney disease stage 2 at the age of 70 years old. In pedigree 5, all patients developed end-stage renal disease between 28 and 41 years old. c.735+3A>G detected in pedigree 1 and pedigree 2 and c.694-1G>C detected in pedigree 3 both led to exon 12 skipping in COL4A4, resulting in 42 nucleotides in-frame deletion (c.694_735del). c.2056+3A>G detected in pedigree 4 led to COL4A4 exon 26 skipping, which caused in-frame deletion of 69 nucleotides (c.1988_2056del). c.2716+5G>T detected in pedigree 5 led to a 360 nucleotides large in-frame deletion, including 100 bp sequence at the 3'end of exon 29,the whole sequence of exon 30 and 89 bp sequence at the 5'end of exon 31 (c.2446_2805del). Conclusions:Renal prognosis differs significantly for patients with small in-frame deletions versus large in-frame deletion splicing abnormalities. Determination of the pathogenicity and the splicing patterns of COL4A4 heterozygous splicing mutations using in vivo and in vitro transcriptional analysis may provide renal prognostic information.