Identification of signature gene set as highly accurate determination of metabolic dysfunction-associated steatotic liver disease progression.

BACKGROUND/AIMS: Metabolic dysfunction-associated steatotic liver disease (MASLD) is characterized by fat accumulation in the liver. MASLD encompasses both steatosis and MASH. Since MASH can lead to cirrhosis and liver cancer, steatosis and MASH must be distinguished during patient treatment. Here, we investigate the genomes, epigenomes, and transcriptomes of MASLD patients to identify signature gene set for more accurate tracking of MASLD progression. METHODS: Biopsy-tissue and blood samples from patients with 134 MASLD, comprising 60 steatosis and 74 MASH patients were performed omics analysis. SVM learning algorithm were used to calculate most predictive features. Linear regression was applied to find signature gene set that distinguish the stage of MASLD and to validate their application into independent cohort of MASLD. RESULTS: After performing WGS, WES, WGBS, and total RNA-seq on 134 biopsy samples from confirmed MASLD patients, we provided 1,955 MASLD-associated features, out of 3,176 somatic variant callings, 58 DMRs, and 1,393 DEGs that track MASLD progression. Then, we used a SVM learning algorithm to analyze the data and select the most predictive features. Using linear regression, we identified a signature gene set capable of differentiating the various stages of MASLD and verified it in different independent cohorts of MASLD and a liver cancer cohort. CONCLUSION: We identified a signature gene set (i.e., CAPG, HYAL3, WIPI1, TREM2, SPP1, and RNASE6) with strong potential as a panel of diagnostic genes of MASLD-associated disease.

Sonographic appearances of juvenile fibroadenoma of the breast.

OBJECTIVES: The purpose of this study was to evaluate characteristic features of juvenile fibroadenoma of the breast on sonography. METHODS: Our study included 34 juvenile fibroadenomas confirmed by surgical biopsy or sonographically guided 8-gauge vacuum-assisted biopsy in 23 patients (age range, 15-47 years; mean age, 25 years). Sonographic findings of the lesions were analyzed retrospectively by 2 radiologists in consensus according to the American College of Radiology Breast Imaging Reporting and Data System (BI-RADS) lexicon. The BI-RADS final assessment category was also established. RESULTS: On sonography, all fibroadenomas presented as masses. The mean size was 30 mm. Regarding shape, there were 29 oval, 2 round, and 3 irregular masses. The margins were circumscribed in 24, indistinct in 5, microlobulated in 4, and angular in 1. Regarding echogenicity, 16 masses were hypoechoic, 16 isoechoic, and 2 complex echoic. Posterior acoustic characteristics included posterior acoustic enhancement in 22 masses (65%), posterior shadowing in 1, and no posterior acoustic features in 9; this information was not available in 2. The lesion boundary presented as an abrupt interface in 32 and an echogenic halo in 2. The orientation was parallel in 32 and nonparallel in 2. Calcifications were present in 3 cases and absent in 31. On color Doppler sonography, the masses were usually hypervascular with vessel counts of 5 or more (87%). The BI-RADS final assessment categories were 3 in 24 and 4a in 10. CONCLUSIONS: The dominant sonographic presentation of juvenile fibroadenoma is a circumscribed oval hypoechoic or isoechoic mass, which resembles that of simple fibroadenoma. Juvenile fibroadenomas frequently show posterior acoustic enhancement and hypervascularity on color Doppler sonography.

Fluoroscopically guided balloon dilation for patients with esophageal stricture after radiation treatment.

PURPOSE: To evaluate the safety and clinical effectiveness of fluoroscopically guided balloon dilation in patients with esophageal stricture after radiation therapy (RT). MATERIALS AND METHODS: From April 1993 through December 2004, fluoroscopically guided balloon dilation was performed in 15 patients with esophageal strictures secondary to previous RT. Technical success, clinical success, recurrence of dysphagia, primary and secondary patency rates, and complications related to the procedure were retrospectively evaluated. RESULTS: Twenty-five balloon dilations were performed in 15 patients, with a mean of 1.7 dilations per patient (range, 1-5). Technical success was achieved in all procedures. One patient was immediately lost to follow-up and another underwent elective esophageal surgery 13 days after the procedure. Of the remaining 13 patients, clinical success was achieved 11 (85%). Two of 13 patients exhibited recurrence of dysphagia before 1 month after balloon dilation. Among the 11 patients in whom clinical success was achieved, seven exhibited maintained initial improvement of dysphagia until their last follow-up (mean, 174 days) and four exhibited recurrence of dysphagia after the first balloon dilation. Dysphagia recurred 2-128 days (mean, 67.2 d) after the first balloon dilation in six of the 13 patients (46%), who underwent further balloon dilation and/or stent placement. The primary and secondary patency rates at 1, 3, and 6 months were 86%, 68%, and 47% and 100%, 92%, and 62%, respectively. There were no major complications. Type 1 and 2 esophageal ruptures occurred after 12 dilations in nine patients; they were treated conservatively. CONCLUSION: Fluoroscopically guided balloon dilation for esophageal stricture after RT can be safe and effective. However, the high rate of recurrent dysphagia requires repeated dilations.