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The SPOT-MAS assay “Screening for the Presence Of Tumor by Methylation And Size” detects the five most common cancers in Vietnam by evaluating circulating tumor DNA in the blood. Here, we validated its performance in a prospective multi-center clinical trial, K-DETEK. Our analysis of 2795 participants from 14 sites across Vietnam demonstrates its ability to detect cancers in asymptomatic individuals with a positive predictive value of 60%, with 83.3% accuracy in detecting tumor location. We present a case report to support further using SPOT-MAS as a complementary method to achieve early cancer detection and provide the opportunity for early treatment.

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 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.

Microdeletions of Y chromosomes frequently occur in 3 subregions of the AZF, namely, AZFa, AZFb, and AZFc, with 6 basic STS marker sequences, which are sY84, sY86 (AZFa), sY127, sY134 (AZFb), and sY254, sY255 (AZFc). According to EAA/EMNQ guidelines, 11 additional AZFabc marker sequences should be used to determine the extent of the microdeletion in the AZF region of infertile men, which is known as 11 extended STSs. By applying mPCR, the authors develop an optimal detection procedure for the 6 basic STS and 11 extended STS using 3 multiplex PCR reactions. The first multiplex PCR reaction includes 6 basic STS plus the 2 control sequences sex-determining region Y (SRY) and zinc finger protein X/Y-linked (ZFX/Y). The second multiplex PCR reaction includes the 6 extended STS sY88, sY1182, sY105, sY121, sY1191, and sY1291 and the 2 control sequences SRY and ZFX/Y. The third multiplex PCR reaction includes the 5 extended STS sY153, sY160, sY82, sY143, and sY83 and the 2 control sequences SRY and ZFX/Y. Six basic primer sequences and eleven extended primer sequences are redesigned to simultaneously pair and amplify STS in the same multiplex reaction: set of 8 primers for 6 basic STS: 6 basic STS + 2 (SRY, ZFX/Y), 8 extension primers set E1: 6 extended STS + 2 (SRY, ZFX/Y), and 7 extension primers set E2: 5 extended STS + 2 (SRY, ZFX/Y). We successfully designed primer pairs with high specificity and stability and successfully amplified 6 basic STS and 11 extended STS, which ensures that the STSs have the correct sequence as recommended by EAA/EMQN and are consistent with the NCBI gene bank. This study has successfully developed a procedure to simultaneously detect 17 STSs, including 6 basic STSs and 11 extended STSs in the AZF region using 3 multiplex PCR reactions.

BACKGROUND&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 ≥ 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.

Background Dystrophic epidermolysis bullosa (DEB) is a rare inherited disorder characterized by skin fragility leading to trauma‐induced subepidermal blisters and healing with scarring. DEB is caused by mutations in COL7A1, the gene encoding for type VII collagen (COLVII). The DEB inheritance trait is divided into dominant dystrophic epidermolysis bullosa (DDEB) and recessive dystrophic epidermolysis bullosa (RDEB). Methods Whole‐exome sequencing (WES) was performed for identifying mutations in six affected individuals of five Vietnamese families. Results Three novel variants in total of eight variants were found in five families. The first novel variant causing glycine substitution (c.8279G>A, p.G2760E), the remaining two novel variants resulted in splice site affecting (c.4518+2delT and c.5821‐2A>G). Functional analysis indicated that the splice site at c.4518+2delT resulted in a skipping of exon 43, leading to an in‐frame deletion of 12 amino acids. Conclusion Our finding expands the spectrum of COL7A1 mutations and reports altered splicing at c.4518+2delT during the processing of the pre‐mRNA. This study provides an additional scientific basis for diagnosis, genetic counseling, and prognosis purposes of EB patients., Dystrophic epidermolysis bullosa (DEB) is a rare inherited disorder characterized by skin fragility leading to trauma‐induced subepidermal blisters and healing with scarring. DEB is caused by mutations in COL7A1, the gene encoding for type VII collagen (COLVII). Whole‐exome sequencing (WES) was performed for identification of mutations in six affected individuals of five Vietnamese families. Three novel variants out of eight variants were found in five families.

The aim of this study was to investigate the effect of varicocele on DNA fragmentation index (DFI), zinc concentration and seminal parameters in infertile patients. In this prospective study, 179 men with at least 1-year history of infertility and varicocele were examined for semen quality at Hanoi Medical University Hospital (HMUH), Hanoi, Vietnam. In addition, an inverse correlation between zinc concentration and the degree of sperm DNA fragmentation in patients with clinical varicocele was found. The difference in mean values of sperm DNA fragmentation index in patients with various grades of varicoceles can be neglected, whereas most patients with varicocele of grades II and III had DFI >30%. Varicocele is associated with high levels of DNA damage in spermatozoa and reduced zinc levels that correlate with different grades of disease. Therefore, DNA fragmentation index and zinc concentration can be used as essential additional diagnostic test for patients with clinical varicocele. A study should be conducted to evaluate the benefits of zinc supplementation to improve seminal parameters in patients with varicocele.

Mục tiêu: Mô tả kết quả chẩn đoán trước sinh của những trường hợp thai có tăng khoảng sáng sau gáy. Đối tượng và phương pháp nghiên cứu: nghiên cứu mô tả tiến cứu, theo dõi dọc 278 thai phụ có thai tăng KSSG từ 2,5mm trở lên được đo ở tuổi thai 11 tuần đến 13 tuần 6 ngày. Các trường hợp này được tư vấn lấy bệnh phẩm thai nhi bằng chọc hút dịch ối để làm NST đồ và siêu âm hình thái ở tuổi thai 22 tuần tại Trung tâm Chẩn đoán trước sinh - Bệnh viện Phụ Sản Trung ương từ tháng 4/2017 đến tháng 9/2017. Kết quả nghiên cứu: Trong tổng số thai nhivới KSSG≥ 2,5mm thì có 20,7% trường hợp có bất thường về NSTvà 19,4% bất thường về hình thái, bất thường hình thái hay gặp nhất là bất thường cấu trúc tim (7,2%). Trong các trường hợp thai nhi có KSSG 2,5 - 2,9mm có 22,6% bất thường về NST và 18,2% bất thường về hình thái. Tỷ lệ bất thường NST và bất thường hình thái không có sự khác biệt nếu thay đổi ngưỡng chẩn đoán từ 3,0mm xuống 2,5mm, nhưng có sự khác biệt nếu tăng ngưỡng chẩn đoán tăng KSSG lên 3,5mm. Kết luận: Sự khác biệt về tỷ lệ bất thường NST và bất thường hình thái ở những thai nhi có KSSG 2,5 - 2,9mm so với các nhóm thai nhi có KSSG ≥ 3,0mm chưa có ý nghĩa thống kê. Không có sự khác biệt về tỷ lệ bất thường NST và bất thường hình thái nếu sử dụng ngưỡng chẩn đoán tăng KSSG là ≥ 2,5mm hay ≥ 3,0mm, nhưng có sự khác biệt nếu sử dụng ngưỡng chẩn đoán tăng KSSG là ≥ 3,5mm.