CSDL Bài trích Báo - Tạp chí
Khoa Y
821 Identification of the causative mutation in the ITGB2 gene in a LAD1 patient by whole exome sequencing / Nguyen Thi Kim Lien, Nguyen Thi Van Anh, Nguyen Van Tung, Duong Anh Linh, Nguyen Thi Phuong Mai, Nguyen Huy Hoang // Công nghệ sinh học - Vietnam Journal of Biotechnology .- 2022 .- Vol 20 - N2 .- P. 213-218 .- 610
Leukocyte adhesion deficiency type 1 (LAD1) is a rare congenital immunodeficiency disease. The cause of disease is determined to be the mutations in the ITGB2 gene that codes for CD18, the beta chain of beta-2 integrins, leads to decreased expression or functioning of CD18. This deficiency leads to severe impairment of leukocyte adhesion to the vascular wall and leukocyte migration to sites of infection and inflammation. LAD1 has also been associated with inhibition of interleukin-23 and interleukin-17 resulting in a hyperinflammatory and chronic inflammation. Patients with LAD1 typically present in early infancy with recurrent, life threatening infections that are frequently fatal before 2 years of age without hematopoietic stem cell transplant (HSCT). However, LAD1 is difficult to diagnose and many LAD1 patients die at a young age despite intensive antibiotic therapy. Accurate diagnosis requires detailed clinical information (delayed umbilical cord loss, severe periodontitis, delayed wound healing and sores, skin abscesses, and recurrent infection), and confirmation the absence of integrins by flow cytometric analysis. A better understanding of the molecular characteristics of this disease is needed to raise awareness and definitive diagnosis infants with LAD1. To definitive diagnosis, whole exome sequencing and Sanger sequencing were performed in an eighteen-month-old boy with severe leukocytosis, recurrent infections, delayed wound healing, and hepatosplenomegaly associated with an acquired cytomegalovirus infection. Two variants: One previously reported mutation (c.533C>T, p.Pro178Leu) and one novel variant (c.59-1G>A), in the ITGB2 gene were detected. These results can be used for definitive genetic diagnosis, genetic counseling, as well as a prenatal diagnosis in LAD1 patients.
822 The association of TEX15 haplotype with male infertility in Vietnamese individuals / La Duc Duy, Nguyen Phuong Anh, Nguyen Thuy Duong // Công nghệ sinh học - Vietnam Journal of Biotechnology .- 2022 .- Vol 20 - N2 .- P. 219-224 .- 610
To assess the relationship between male infertility and TEX15 in a Vietnamese cohort, we performed a case-control association study of polymorphism TEX15 rs323345 and a further analysis of haplotypes of TEX15 rs323345 and TEX15 rs142485241. A total of 420 unrelated Vietnamese males, including 212 infertile patients and 208 healthy controls, were recruited for the present study. The genotype and allele frequencies of the polymorphism TEX15 rs323345 were determined by PCR-RFLP method.
823 Prenatal genetic diagnosis of retinoblastoma in two Vietnamese families / Pham Thi Minh Chau, Trinh Hong Anh, Luong Thi Lan Anh, Nguyen Thuy Duong, Nguyen Hai Ha // Công nghệ sinh học - Vietnam Journal of Biotechnology .- 2022 .- Vol 20 - N2 .- P. 225-230 .- 610
Retinoblastoma (Rb) is a rare cancer that develops from the layer of cells in the retina. A germline mutation in the RB1 gene is a high risk factor for Rb. We performed prenatal genetic diagnosis on two pregnant women who had had a child with hereditary Rb and continued checking their newborns' conditions after giving birth. Ultrasound-guided amniocentesis, amniotic cell culture, and Sanger sequencing for the specific RB1 region were used. The analysis results demonstrated that one of the amniotic cell samples was found to carry a genetic mutation that causes the disease, inherited from the father. Neonatal screening confirmed that the corresponding newborn of the amniotic cell sample with the causative gene mutation developed binocular retinoblastoma. Prenatal genetic testing on pregnant women in families with a risk of having a child with retinoblastoma should be performed to prepare a clinical diagnosis and treatment plan for the neonate.
824 Evolutionary characterization of clades 2.3.4.4 H5N6 and 2.3.2.1c H5N1 HPAI viruses in Vietnam (2013–2019) revealed distinct reassortants from distant spillovers / Nguyen Trung Nam, Nguyen Hung Chi, Chu Hoang Ha, Do Thi Roan, Nguyen Thi Bich Nga, Le Thanh Hoa // Công nghệ sinh học - Vietnam Journal of Biotechnology .- 2022 .- Vol 20 - N2 .- P. 231-243 .- 610
Highly pathogenic avian influenza (HPAI) H5Nx viruses have continually undergone multiple evolutionary dynamics for the generation of various clades, subclades, and genotypes where 2.3.2.2c, and 2.3.4.4 become predominant and co-circulating in Vietnam from 2014 to date. In this study, fifteen H5 sequences in our study and 90 from others from different clades, 0, 1, 1.1, 2.3.2.1a, 2.3.2.1c, 2.3.4, 2.3.4.1, 2.3.4.2, 2.3.4.3 and 2.3.4.4 of H5N1, H5N2, H5N6, were characterized for hemagglutinin (HA) properties, genetic and phylogenetic analyses. Blast searching using the dataset of the full length of two H5N6 viruses revealed one strain, e.g., A/Duck/Vietnam/HT7/2014(H5N6) in May 2014, belonging to the Sichuan 2014-lineage of Group D (Minor). The other strain, A/Chicken/Vietnam/NT3/2017(H5N6)/or CkNT3-2017 in the Spring of 2017, belonged to the Japanese-Korean late 2016-cluster of Group C (Major). This cluster possessed 140NHETS-145del stretch of Leucine/Serine deletion at position 145 in HA1 (S/L145del), distinct from all the 2.3.4.4 H5N6 viruses known to date. There has been no report of the similar CkNT3-2017 of 2.3.4.4 reassortant in Vietnam prior to our study. The migration flyway might be the route for transportation of this novel H5N6 virus from Japan to Vietnam. In addition, the topology revealed another novel subclade of H5N6 (2018–2019) possibly, of the Vietnamese internal reassortments. The “H5Nx” viruses in Vietnam, in fact, have continually undergone multiple evolutionary processes in parallel with those lineages in China and East-Asia. Variations at the key sites in HA and altered genetic characteristics in novel HPAI H5Nx viruses in Vietnam present a caution for the vaccination program and the risk for human infection.
825 Nghiên cứu mới về các gen liên quan đến chứng nghiện rượu và thuốc lá / Mai Văn Thủy // Khoa học và Công nghệ Việt Nam A .- 2022 .- Số 10 (763) .- Tr. 56-57 .- 610
Phương pháp nghiên cứu trên toàn hệ gen (GWAS); Phát hiện vai trò mới của trình tự AND không mã hóa; Phát hiện mới dựa trên mô hình H-MAGMA.
826 A homozygous variant in G6PC in a Vietnamese patient with glycogen storage disease type Ia / Nguyen Huu Hong Thu, Nguyen Thi Khanh Ly, Nguyen Thuy Duong // Công nghệ sinh học - Vietnam Journal of Biotechnology .- 2022 .- Vol 20 - N1 .- P. 01-07 .- 610
The present study reports a Vietnamese family with a 6-month-old male patient diagnosed with type Ia glycogen storage disease. A homozygous variant in the G6PC gene (NM_000151.3: c.518T>C; p.L173P) was detected in the proband using a comprehensive glycogen storage disease panel. This variant has been previously reported in ClinVar (Accession ClinVar: VCV000640818.3). The segregation of the variant was confirmed in ten people of a 3-generation family using Sanger sequencing. The results showed both parents were heterozygous for the variant.
827 The association of CFAP65 with male infertility in Vietnamese individuals / Nguyen Thuy Duong, Tran Huu Dinh, Nong Van Hai // Công nghệ sinh học - Vietnam Journal of Biotechnology .- 2022 .- Vol 20 - N1 .- P. 09-14 .- 610
The study aimed to investigate the correlation between the polymorphism CFAP65 rs117885048 and male infertility in a Vietnamese population comprising 207 infertile men and 217 healthy controls. As a result, the studied population followed Hardy-Weinberg equilibrium (HWE) (p> 0.05) and the frequencies of genotypes CC/CT/TT were 0.875, 0.12, and 0.003, respectively. The Chi-square test revealed no association between the polymorphism CFAP65 rs117885048 and the disease in this population (p > 0.05). To further interpret the correlation between single nucleotide polymorphisms in the CFAP65 gene and male infertility, a more comprehensive study with other polymorphisms needs to be considered.
828 Characteristics of Lactobacillus strains isolated from Vietnamese patients with type 2 diabetes / Hoang The Hung, Hoa Thi Minh Tu, Pham Thi Thu Uyen, Le Thi Thanh Huyen, Vu Thi Hien, Ha Thi Thu, Le Hoang Duc, Nguyen Trung Nam, Nguyen Thi Tuyet Nhung // Công nghệ sinh học - Vietnam Journal of Biotechnology .- 2022 .- Vol 20 - N1 .- P. 99-108 .- 610
Many studies show that hyperglycemia can lead to injury to the intestinal mucosal barrier, increasing the likelihood of infection, leading to intestinal inflammation in people with type 2 diabetes. Recently, investigations indicatethat the gut microbiome plays a very important role in thisdiseaseinwhichLactobacillus in the guthas been shown to regulate glucose and lipid metabolism, improving oxidative stress, andinhibiting inflammatory responses. In this study, by the method of oriented isolation,the number of Lactobacillus bacteria in the subgroup of healthy people was determined to be (3,9 ± 1.2) x 103CFU/g and in the group of diabetic patients was (2.7 ± 0.8) x 103 CFU/g. The study identified 17/68 selected Lactobacillus strains that were resistant to both Staphylococcus aureusATCC13709 and Escherichia coliATCC 11105. Moreover, these strains were also resistant to acid pH 2.
829 Kết quả bước đầu sử dụng vạt cơ thang tạo hình tổn khuyết do ung thư vùng đầu cổ lưng / Nguyễn Đắc Nguyên, Dương Mạnh Chiến // Nghiên cứu Y học - Trường ĐH Y Hà Nội .- 2022 .- Số 7 (155) .- Tr. 110-119 .- 616
Nghiên cứu chùm ca bệnh với 16 bệnh nhân có khuyết tổn vùng đầu, cổ, lưng do nguyên nhân ung thư được phẫu thuật tạo hình bằng vạt da cơ thang cuống liền tại Bệnh viện K. Tổn khuyết có kích thước lớn nhất: 22x16cm, nhỏ nhất: 12x9cm. Phân bố vị trí tổn khuyết: 75% ở vùng da đầu, 25% ở vùng lưng và vai. Sức sống vạt: 87,5% sống hoàn toàn, 6,25% thiểu dưỡng, bong lớp thượng bì và 6,25% hoại tử hoàn toàn. Vạt da cơ thang cuống liền là lựa chọn phù hợp cho tạo hình khuyết phần mềm vùng đầu, cổ và lưng do ung thư.
830 Tác dụng của điện châm kết hợp tập vận động và đeo đai trên bệnh nhân bán trật khớp vai sau nhồi máu não / Nguyễn Thị Thanh Tú, Nguyễn Thanh Thủy // Nghiên cứu Y học - Trường ĐH Y Hà Nội .- 2022 .- Số 7 (155) .- Tr. 120-128 .- 616
Nghiên cứu nhằm mục tiêu đánh giá tác dụng của điện châm kết hợp tập vận động và đeo đai trên bệnh nhân bán trật khớp vai sau nhồi máu não. Nghiên cứu can thiệp, so sánh trước sau và có đối chứng. 60 bệnh nhân được chẩn đoán bán trật khớp vai sau nhồi máu não chia thành hai nhóm đảm bảo tương đồng về tuổi, giới, mức độ bán trật khớp vai trên X-quang.