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. @*Conclusions@#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.

Recurrent Bleeding After Arterial Embolization in Patients with Hemoptysis: Comparison of Angiographic Findings and Relapsing Period

PURPOSE: To describe the angiographic findings of patients with recurrent hemoptysis after bronchial artery embolization (BAE) according to the point at which relapse occurred. MATERIALS AND METHODS: From 125 patients who underwent BAE due to hemoptysis between 1996 and 2000, we selected 18 of 23 who underwent additional BAE due to recurrent bleeding after initial BAE . Depending on the point at which relapse occurred, they were divided into two groups (I and II, according to whether additional BAE was performed within two weeks of initial BAE or more than two weeks after this). We retrospectively compared the two groups in terms of angiographic findings, number of embolized arteries, and character of feeding arteries at initial and additional BAE. RESULTS: Nine patients in group I (additional BAE: n=10) and nine in group II (additional BAE: n=13) were admitted for recurrent hemoptysis within two weeks of initial BAE and more than two weeks after this, respectively. In group I(n=29) and II(n=31), angiography demonstrated two direct and 27 indirect, and two direct and 29 indirect signs of hemorrhage, respectively. No statistically significant differences were observed (x2=0.005, p=0.945). Among the embolized feeder ressels in group I (n=30) there were 20 bronchial artery and 10 non bronchial systemic collaterals, while for group II(n=35), the corresponding totals were 21 and 14. Again, no statistically significant differences were encountered(x2=0.308; p=0.579). In group I, feeders were newly developed in one case(10%), previously embolized in five(50%), and missed in four(40%), while in group two the corresponding figures were none, twelve(92.3%), and one(7.7%). No significant differences were noted, though the incidence of previously embolized feeders in Group II was very high (x2=5.383, p=0.068). CONCLUSION: Among patients in whom hemoptysis after BAE recurred at different times, the angiographic findings and number of embolized arteries were not significantly different, but differences in the nature of the feeder were noted. Patients in whom hemoptysis recurred more than two weeks after BAE showed more recanalization of previously embolized feeders than those in whom there was recurrence within two weeks.

MR Findings of Calvarial Eosinophilic Granuloma

PURPOSE: The purpose of this study was to evaluate the MR findings of calvarial eosinophilic granuloma. MATERIALS AND METHODS: We reviewed the MR imaging studies of nine patients [M:F=3:6, aged 6 -35 (mean, 20.5) years] with pathologically proven eosinophilic granuloma in the calvaria. The findings were evaluated for involvement of the diploic space, changes in adjacent bone marrow, distinction of the transitional zone, pattern of bone destruction, signal intensity and contrast enhancement of the tumor, and contrast enhancement of the adjacent dura. RESULTS: All lesions involved the diploic space, showed no change in adjacent bone marrow, and had a distinct transitional zone. In most (8/9) cases there was asymmetric bony destruction. On T1-weighted images, signal intensities of the tumors varied, while on T2-weighted images, hyperintensity was observed in seven cases, isointensity in one, and hypointensity in one. After the administration of contrast material, enhancement was homogeneous in four cases and inhomogeneous in five. Enhancement of the adjacent dura was demonstrated in all nine cases. CONCLUSION: The characteristic MR findings of calvarial eosinophilic granuloma are variable signal intensity on T1WI, high signal intensity on T2WI, and marked contrast enhancement; in addition, there is a distinct transitional zone, asymmetrical bony destruction, and associated dural enhancement.