Wilson disease (WD) is an autosomal recessive disorder of copper metabolism. The gene responsible for WD was discovered in 1993 and is located on chromosome 13 at 13q14.3. It encodes a copper-specific transporting P-type ATPase. Early diagnosis can improve treatment outcome and decrease the rate of disability or even mortality.We used Sanger sequencing to identify mutation hot spots in 55 northern Vietnamese with a clinical diagnosis of WD. Mutations were screened and detected by direct DNA sequencing. A total of 26 different ATP7B gene mutations were identified, including seven novel mutations (five nonsense and two missense mutations). The most frequent mutations were p.Ser105Ter (24.55%), p.Arg778Leu (5.45%) and p.Thr850Ile (4.55%). Mutation detection rate in exon 2 was 34.55% and ranked first, followed by exon 8 with 16.36%, and exon 18 with 10.91% each, thus, exons 2, 8 and 18 are the mutation hot spots for northern VietnameseWD patients. These findings were different from previous studies in Asia. Our research established a suitable strategy for ATP7B gene testing in northern Vietnamese WD patients.

BACKGROUND Hepatitis B virus (HBV) infection remains a major public health problem. The interaction between HBV and the host inflammatory response is an important factor contributing to liver damage and disease development. OBJECTIVE We compared the correlation between the subclinical index and PBMC(peripheral blood mono-nuclear cells) concentration in two groups of pregnant women in Vietnam (HBsAg positive), whose HBV DNA concentrations were different. METHODS A multidimensional analysis was performed on data collected from 80 Vietnamese pregnant women and their babies (60/80 cord blood). RESULTS When maternal viral load is higher than 5x107 copies/ml, the risk of being HBsAg positive in cord blood is 123% (RR=2.23 [1.48,3.36]); when viral load is lower than this baseline, the risk is de-creased by 55% (RR=0.45 [0.30,0.67]) (p<0.001). In the high-viral-load group (HBV DNA ≥ 5x107 copies/ml), there was a strong correlation between CBMCs (cord blood mononuclear cells) and serum maternal hemoglobin concentration, maternal platelets, and maternal ALT. Their R values were -0.88, 0.82, and 0.84 with p=8.97x10-3, 2.41x10-2 and 1.75x10-1, respectively. CONCLUSIONS We found a significant correlation shift of the subclinical index between the two groups, which may be important in diagnosing pregnant women with chronic hepatitis B virus infection.

BACKGROUND&amp;AIMS: Hepatitis B virus (HBV) infection remains a major public health problem. The interaction between HBV and the host inflammatory response is an important factor contributing to liver damage and disease development. We compared the correlation between the subclinical index and PBMCs concentration in two groups of pregnant women (HBsAg positive), which are different in HBV DNA concentration in Vietnam. METHODS: The Hierarchical cluster analysis (HCA) was run with 20 different clustering methods on data collected from 80 Vietnamese pregnant women and their babies (60/80 cord blood). RESULTS: In the high viral load group (HBV DNA &ge; 5x10^7 copies/ml), a strong correlation between CBMCs with serum maternal Haemoglobin concentration and maternal platelet and maternal ALT. Their R values are: -0.88, 0.82, and 0.84 with p=8.97E-03, 2.41E-02 and 1.75E-01, respectively. CONCLUSIONS: We found a significant correlation shift of subclinical index between the two groups, which may be important in diagnosing pregnant women with chronic hepatitis B virus infection.

The TERT gene encodes its catalytic subunit that is essential for telomere length at the chromosome ends. The expression of TERT is highly associated with the risk of human cancers. Recurrent mutations in the promoter of the TERT gene are identified as a mechanism to activate telomerase in cancer. This study aims to determine the rate of TERT promoter mutations in hepatocellular carcinoma (HCC) tissue samples and the association between the TERT promoter mutations and some risk factors of HCC. The study was conducted on 84 patients diagnosed with HCC by pathological surgery. Gene sequencing technique was used to identify TERT promoter mutations. Results exhibited 21 samples (25%) carried TERT promoter mutation at -124C>T site and no mutation at -146C>T site. At the same time, there was no association between -124C>T mutation and risks of HCC found in this study.