Cancers lacking standard screening (LSS) options account for approximately 70% of cancer-related deaths due to late-stage diagnosis. Circulating tumor DNA (ctDNA) is a promising biomarker for multi-cancer early detection. We previously developed SPOT-MAS, a multimodal ctDNA-based assay analyzing methylation and fragmentomic profiles, effective in detecting common cancers (breast, colorectal, liver, lung and gastric).
View Article and Find Full Text PDFObjectives: The management of Helicobacter pylori in Vietnam is becoming progressively more difficult due to increasing antibiotic resistance, particularly to clarithromycin (CLR) and levofloxaxin (LVX). In Vietnam, the selection of an H. pylori eradication regimen is predominantly based on empirical evidence.
View Article and Find Full Text PDFWe report a Vietnamese family with complete androgen insensitivity syndrome that included several phenotypic females who have a 46,XY karyotype with an extremely rare mutation of the androgen receptor gene. The proband was a 27-year-old phenotypic adult female referred to our department for karyotyping due to primary amenorrhea. Ultrasound examination revealed a small uterus.
View Article and Find Full Text PDF(steroid 5-alpha-reductase 2) mutation, which impairs 5-reductase-2 enzyme activity, is among the causes of 46,XY disorders of sex development (DSD). Here, we report a rare pathogenic mutation NM_000348.4:c.
View Article and Find Full Text PDFQuantitative Fluorescent - Polymerase Chain Reaction (QF-PCR) is a rapid prenatal diagnosis test for 21, 18, 13 and sex chromosomal aneuploidy detection. However, it could not detect partial trisomy or partial monosomy of those chromosomes. Here, we report a 19-month-old Vietnamese female with a 9.
View Article and Find Full Text PDFObjectives: The prevalence of clarithromycin (CLR)-resistant Helicobacter pylori is increasing worldwide, including in Vietnam. The aims of this study were to determine point mutations in the 23S rRNA domain V of clinical H. pylori strains in central Vietnam, to estimate the prevalence of phenotypic CLR resistance and to assess the association between 23S rRNA domain V genotype and CLR-resistant phenotype.
View Article and Find Full Text PDFIntroduction: Data about the prevalence of the A2142C, A2142G, and A2143G mutations in 23S rRNA gene is still limited. The aim of this study was to determine the prevalence of these mutations in 23S rRNA gene of H. pylori vietnamese strains.
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