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Introduction: Hepatocellular carcinoma (HCC) is one of the most prevalent cancers worldwide. A non-synonymous single nucleotide polymorphism (SNP) of the transmembrane 6 superfamily member 2 (TM6SF2) gene is associated with non-alcoholic fatty liver disease. SNPs of the TM6SF2 gene play an important role in the pathogenesis of HCC in alcoholic cirrhosis, but there are limited data regarding other possible etiologies. We aimed to evaluate the role of the rs58542926 polymorphism in the development of HCC in Egyptian chronic liver disease (CLD) patients. Material and methods: A total of 120 participants, including 40 HCC patients, 40 CLD patients, and 40 healthy controls, were selected. Real-time polymerase chain reaction (RT-PCR) was used to detect the TM6SF2 rs58542926 polymorphism. Results: There were no significant differences among the three studied groups regarding age (p = 0.06) and gender (p = 0.75). Frequencies of the CT, TT, CT + TT genotypes and the T allele were significantly higher in HCC patients than in the CLD and control groups (p < 0.001, p = 0.005, and p < 0.001, respectively). CLD patients with the CT genotype had a significantly increased risk of HCC development (OR = 4.67, 95% CI: 1.67-12.90). Patients with the TT genotype had a significantly increased risk of HCC (OR = 9.33, 95% CI: 1.72-50.61). Moreover, the T allele was correlated with an increased risk of HCC (OR = 5.44, 95% CI: 2.09-14.17) compared to the C allele. Conclusions: The TM6SF2 rs58542926 genotype is associated with an increased risk of HCC in the Egyptian population. [ABSTRACT FROM AUTHOR]

Aim of the study: To determine the correlation of the endoscopic findings with portal Doppler and ultrasound (USG) in children with suspected portal hypertension (PHT). Material and methods: Eighty children with extrahepatic portal vein obstruction (EHPVO) and chronic liver disease (CLD) were included in this retrospective study conducted over a period of 1 year. All patients underwent upper gastrointestinal (GI) endoscopy and Doppler. Results: The etiology was EHPVO in 30 (37.5%) patients, biliary atresia in 12 (15%), Budd-Chiari syndrome in 11 (13.7%), Wilson's disease in 10 (12.5%), idiopathic CLD in 8 (10%), autoimmune hepatitis in 4 (5%), glycogen storage disease (GSD) in 3 (3.8%), non-alcoholic liver disease (NAFLD) in 1 (1.3%) and systemic lupus erythematosus (SLE) in 1 (1.3%) patient. Fifty-three (66.25%) patients had esophageal varices on endoscopy, of whom 3 (3.8%) had associated gastric varices. Portal hypertensive gastropathy (PHG) was present in 30 (37.5%) patients, of whom 10 (12.5%) had severe PHG. Forty-one (51.3%) patients had PHT on Doppler (κ correlation 0.43). Kappa correlation was 0.43 in patients with biliary atresia, 0.31 in Budd-Chiari syndrome, 0.23 in idiopathic CLD, 0.21 in CLD, and 0.05 in Wilson's disease. All (100%) EHPVO patients and 39 (78%) CLD patients had PHT on USG. Endoscopic findings of PHT were seen in 24 (80%) EHPVO patients and 29 (58%) CLD patients. All patients with EHPVO had cavernous transformation of the portal vein on Doppler. For patients with CLD, the common Doppler findings were collaterals seen in 35 patients and reversal of flow in 12 patients. Conclusions: Doppler ultrasound followed by endoscopy should be used to diagnose PHT in children. In children with biliary atresia, Doppler ultrasound may miss changes of PHT. [ABSTRACT FROM AUTHOR]