Evaluation of a multimodal ctDNA-based assay for detection of aggressive cancers lacking standard screening tests.

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).

Association between Maternal and Fetal Genetic Variants and Preeclampsia: Evidence from a Meta-Analysis.

The objective of this meta-analysis was to evaluate the association between maternal and fetal genetic variants and the risk of preeclampsia, a pregnancy-related condition that affects women. Despite the unclear role of these genetic factors in the development of preeclampsia, this analysis aimed to provide insights into the potential contributing factors. An electronic search of online databases was conducted to identify relevant studies.

Helicobacter pylori cagA, vacA, and iceA genotypes and clinical outcomes: a cross-sectional study in central Vietnam.

Helicobacter pylori is the most common cause of gastroduodenal diseases. The concept that cagA-positive H. pylori is a risk factor for gastric cancer appears to be true only for H.

Current status of Helicobacter pylori resistance to clarithromycin and levofloxacin in Vietnam: Results from molecular analysis of gastric biopsy specimens.

Objectives: 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.

variants of dominant monogenic disorders in Vietnam detected by a noninvasive prenatal test: a case series.

Noninvasive prenatal tests for monogenic diseases (NIPT-SGG) have recently been reported as helpful in early-stage antenatal screening. Our study describes the clinical and genetic features of cases identified by NIPT-SGG. In a cohort pregnancy with abnormal sonograms, affected cases were confirmed by invasive diagnostic tests concurrently, with NIPT-SGG targeting 25 common dominant single-gene diseases.

Deficient Mismatch Repair Proteins in Gastric Mixed Neuroendocrine Non-Neuroendocrine Neoplasm: A Rare Case Report.

Mixed neuroendocrine non-neuroendocrine neoplasm (MiNEN) is a rare type of gastric carcinoma with controversial diagnosis and treatment. Recent data implies that deficiency mismatch repair proteins inducing microsatellite instability are considered one of the potential drivers of this disease. Hence, we report a stomach MiNEN with MMR protein loss.

Developing and validating noninvasive prenatal testing for autosomal dominant monogenic diseases in Vietnam.

Over 60% of single-gene diseases in newborns are autosomal dominant variants. Noninvasive prenatal testing for monogenic conditions (NIPT-SGG) is cost-effective and timesaving, but not widely applied. This study introduces and validates NIPT-SGG in detecting 25 monogenic conditions.

An extremely rare missense mutation of the androgen receptor gene in a Vietnamese family with complete androgen insensitivity syndrome.

We 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.

Genetic diversity of the oipA gene among Helicobacter pylori isolates and clinical outcome in Vietnam.

Outer inflammatory protein A (OipA), which is encoded by the oipA gene, can induce interleukin-8 secretion in gastric epithelial cells. The functional status of the oipA gene is regulated by the slipped-strand mispairing mechanism based on the CT dinucleotide repeat number in the 5' region. This study aimed to investigate the oipA functional status ("on/off") of Helicobacter pylori (H.

Hereditary multiple exostoses: A case report and literature review.

Osteochondroma is the most common bone tumor representing 20%-50% of all benign bone tumors and 10%-15% of all bone tumors. Osteochondroma has similar radiological appearance in both solitary and multiple forms; the latter is an autosomal dominant disorder termed hereditary multiple exostoses. Associated complications of osteochondroma include deformity, fracture, neurovascular compromise, bursa formation, and malignant transformation.

An Extremely Rare Gene c.485A>C Mutation in a Compound Heterozygous Newborn with Disorders of Sex Development First Identified in Vietnam.

(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.

De novo c.2455C>T mutation of NPR2 gene in a fetus with shortened long bones and a ventricular septal defect conceived by a mother with a fragile site at 16q22.1 and a father with a rare heterochromatic variant of chromosome 4 from Vietnam.

Background: A heterozygous natriuretic peptide receptor 2 (NPR2) gene c.2455C>T mutation was identified as a cause of familial idiopathic short stature (ISS). Only two cases with this mutation were reported previously, and the probands with ISS had no organ system defects.

MBD5-related intellectual disability in a Vietnamese child.

The disruption of methyl-binding domain protein 5 (MBD5) gene has been determined as a significant cause of a group of disorders known as MBD5-associated neurodevelopmental disorder. Here, we report a novel pathogenic mutation, NM_001378120.1 (MBD5): c.

An experience in prenatal diagnosis via QF-PCR of a female child with a 9.9 Mb pure deletion at 18p11.32-11.22.

Quantitative 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.

High rates of clarithromycin and levofloxacin resistance of Helicobacter pylori in patients with chronic gastritis in the south east area of Vietnam.

Background: The increasing rates of clarithromycin (CLR)- and levofloxacin (LVX)-resistant Helicobacter pylori are the main causes of the considerable decrease in the eradication rates of triple therapy and LVX-based regimens. The aims of this study were to determine the rates of CLR- and LVX-resistant H. pylori by the Epsilometer test and to assess the risk factors for this antibiotic resistance among patients with chronic gastritis in the south east area of Vietnam.

Association of TP53 gene codon 72 polymorphism with Helicobacter pylori-positive non-cardia gastric cancer in Vietnam.

Introduction: This research aimed to determine the association of the combination of H. pylori infection and TP53 codon 72 polymorphism with non-cardia gastric cancer (GC) in Vietnam.

Methodology: A total of 164 patients with non-cardia GC and 164 patients with peptic ulcer disease or functional dyspepsia in controls matched by sex and age were enrolled.

Characterisation of point mutations in domain V of the 23S rRNA gene of clinical Helicobacter pylori strains and clarithromycin-resistant phenotype in central Vietnam.

Objectives: 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.

Helicobacter pylori 23S rRNA gene mutations associated with clarithromycin resistance in chronic gastritis in Vietnam.

Introduction: 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.