Carpenterfisher8667

BACKGROUND Mutations in the human telomerase reverse transcriptase (hTERT) gene promoter have been reported in hepatocellular carcinoma (HCC); however, analyses of these mutations in liquid biopsies have been technically difficult because of the high GC content of the regions of interest within this promoter. We evaluated the feasibility and prognostic value of hTERT promoter mutations identified in circulating cell-free DNA (cfDNA) from the serum of patients with HCC. OBJECTIVE A cohort of HCC patients (n = 36) who were curatively treated by surgical resection between June 2003 and September 2014 were enrolled in this study. METHODS The presence of hTERT promoter mutations in cfDNA from the patients' serum was analyzed via modified droplet digital polymerase chain reaction, and associations were sought between specific promoter mutations and patients' disease-free survival (DFS). RESULTS The G>A hTERT mutation at -124 bp was detected in the serum of 25 patients (69%). Although no marked differences were observed between the characteristics of the serum mutation-positive and serum mutation-negative patient groups, the DFS of patients with the mutation was significantly shorter than that of the serum mutation-negative patients (p = 0.02). Among 18 clinicopathologic and background liver factors examined, the presence of the -124 bp G>A mutation was an independent and significant predictor of patients' DFS (hazard ratio = 3.01, 95% confidence interval 1.11-10.5, p = 0.03) in multivariate analyses. CONCLUSIONS The -124 bp G>A hTERT promoter mutation was observed in the serum of 69% of HCC patients who underwent surgical resection and was an independent predictor of disease progression in HCC. © 2020 S. Karger AG, Basel.BACKGROUND AND AIM Recently, sarcopenia has been proposed as an additional risk factor of non-alcoholic fatty liver disease, and there have been no studies in patients with inflammatory bowel disease. We aimed to analyze the clinical associations between sarcopenia and non-alcoholic fatty liver disease in inflammatory bowel disease patients. METHODS From January 2004 to December 2017, a total of 488 inflammatory bowel disease patients, with computed tomography results, were classified according to the presence of non-alcoholic fatty liver disease. Sarcopenia was assessed based on the muscle volume calculated by the total psoas muscle area in the third lumbar region divided by the square of the patient's height (m2). RESULTS Among the 443 included patients, non-alcoholic fatty liver disease was diagnosed in 49 patients (11.1%). Sarcopenia was noted in 34.9%; it was more common in the non-alcoholic fatty liver disease group (51.0% vs. 33.0%; p = 0.019). In multivariate analysis, metabolic syndrome (odds ratio 8.63), hyperuricemia (odds ratio 4.66), small bowel resection (odds ratio 3.45), and sarcopenia (odds ratio 2.99) were significant risk factors of non-alcoholic fatty liver disease in inflammatory bowel disease patients. In addition, sarcopenia was an independent risk factor after adjustment for age, sex, and other metabolic factors (odds ratio 2.26). CONCLUSIONS The prevalence of non-alcoholic fatty liver in inflammatory bowel disease patients was 11.1% and sarcopenia was an independent risk factor. © 2020 S. Karger AG, Basel.BACKGROUND Primary biliary cholangitis (PBC) is a chronic cholestatic autoimmune disease, predominantly affecting middle-aged women that may progress to end-stage liver disease. We aimed to assess quality of life (QoL) in patients with PBC given that social, economic, and geographical factor also influence QoL. METHODS This study included patients with diagnosed PBC according to the EASL guidelines, who were treated for at least 6 months in order to allow adequate time for the initial burden of symptoms to subside. We used the PBC-40 questionnaire validated in the Serbian language. RESULTS The mean total PBC-40 score was 89.4 ± 29.3. The overall frequency of moderate and severe involvement in each domain was 84.9% (n=107) in "Symptoms," 29.3% (n=36) in "Itch," 76.4% (n=97) in "Fatigue," 58.1% (n=72) in "Cognitive," 77.2% (n=98) in "Social," and 70.9% (n=90) in "Emotional." There was a statistically significant negative correlation of disease duration and albumin score with the "Emotional" domain score. Furthermore this domain showed a significant positive correlation with the Mayo score. CONCLUSION The present study demonstrates that patients with PBC have significant impairment in QoL with fatigue being the most prevalent symptom. The "Social" and "Emotional" domains were also significantly affected in these individuals, particularly in patients with peripheral edema who exhibited worse QoL that those who were euvolemic. LAQ824 © 2020 S. Karger AG, Basel.BACKGROUND/AIMS TNF-α inhibitors represent the most advanced approved therapeutic option for moderate and severe forms of hidradenitis suppurativa (HS). However, in recent years, cases of paradoxical HS secondary to the use of these biological drugs have been described, with very few cases reported in the literature. The aims of this study are (1) to present 2 new cases of paradoxical HS and (2) to perform a systematic review of scientific evidence regarding paradoxical HS with TNF-α inhibitors. MATERIAL AND METHODS This is a retrospective study in which we searched all the cases of paradoxical HS secondary to the use of TNF-α inhibitors published in the literature and included two additional cases observed in our clinical practice. RESULTS A total of 34 patients under TNF-α inhibitor treatment were included (adalimumab = 21; infliximab = 9; etanercept = 4). The median delay from exposure to TNF-α inhibitor and the development of paradoxical HS was 12 months (range 1-72). The majority of patients were Hurley stage II (58.8%). Clinical improvement and complete remission were more frequent when the TNF-α inhibitor was stopped or switched to another biological agent with a different therapeutic target rather than maintenance or change to another TNF-α inhibitor. CONCLUSIONS Paradoxical HS is an unusual adverse effect of TNF-α inhibitors. When this adverse effect appears, interruption or substitution of treatment is associated with a better clinical outcome. © 2020 S. Karger AG, Basel.