Publications by authors named "Ngoc-Phuong Thi Cao"
Article Synopsis
- Vietnam has a significant thalassemia issue, with a study of 5,880 pregnant women revealing a 13.13% carrier frequency for thalassemia.
- The breakdown of carriers included 7.82% for α-thalassemia and 5.31% for β-thalassemia, with common mutations identified in both types.
- The study highlights the effectiveness of combining next-generation sequencing with gap-PCR for comprehensive thalassemia screening, estimating that around 5,021 babies could be born with severe thalassemia in Vietnam each year.
Article Synopsis
- * A new method was developed to identify female carriers of α-thalassemia using non-invasive prenatal test samples, finding that 7.76% of 68,885 Vietnamese pregnant women carried deletions related to the disorder.
- * The approach showed high accuracy, with F1-scores between 94.74% and 99.55% for detecting various genotypes, and it suggests that using cfDNA from prenatal tests could be a cost-effective way to identify carriers of α-thalassemia.
Article Synopsis
- Targeted therapy using tyrosine kinase inhibitors (TKI) can improve survival rates for many patients with non-small cell lung cancer (NSCLC), but resistance to these treatments often develops.
- A study analyzed the genetic and epigenetic changes in 122 Vietnamese NSCLC patients experiencing resistance to TKI therapy, finding that 41.8% had specific resistance mutations, particularly in the EGFR gene.
- The research highlighted that the level of genome-wide hypomethylation was linked to how long patients responded to TKI, suggesting that liquid biopsies can help understand TKI resistance mechanisms and inform future treatment strategies.
