Genetic landscape of recessive diseases in the Vietnamese population from large-scale clinical exome sequencing.

Accurate profiling of population-specific recessive diseases is essential for the design of cost-effective carrier screening programs. However, minority populations and ethnic groups, including Vietnamese, are still underrepresented in existing genetic studies. Here, we reported the first comprehensive study of recessive diseases in the Vietnamese population. Clinical exome sequencing data of 4503 disease-associated genes obtained from a cohort of 985 Vietnamese individuals was analyzed to identify pathogenic variants, associated diseases and their carrier frequencies in the population. A total of 118 recessive diseases associated with 164 pathogenic or likely pathogenic variants were identified, among which 28 diseases had carrier frequencies of at least 1% (1 in 100 individuals). Three diseases were prevalent in the Vietnamese population with carrier frequencies of 2-12 times higher than in the world populations, including beta-thalassemia (1 in 23), citrin deficiency (1 in 31), and phenylketonuria (1 in 40). Seven novel pathogenic and two likely pathogenic variants associated with nine recessive diseases were discovered. The comprehensive profile of recessive diseases identified in this study enables the design of cost-effective carrier screening programs specific to the Vietnamese population.

Treatment Outcome and Safety of the TCX Regimen for Advanced Gastric Cancer: A Prospective Cohort Study.

Objective: To evaluate the outcome and safety of the paclitaxel, carboplatin, and capecitabine (TCX) regimen in patients with advanced gastric cancer. Methods: Advanced gastric cancer patients received the TCX regimen for up to six cycles, which were 3 weeks apart. Paclitaxel (175 mg/m2) was given over a 3-hour infusion, followed by carboplatin in a 1-hour infusion on day 1. Capecitabine (850 mg/m2) was given orally twice daily from day 1 to day 14. Primary endpoints were progression-free survival (PFS) and overall survival (OS). Results: Among 83 patients at stage IVa and IVb, the median PFS was 9.3 months; 6-month, 1-year, and 2-year PFS were 74.6%, 32.5%, and 14.4%, respectively. The median OS was 17.0 months; 6-month, 1-year, and 2-year OS were 97.5%, 68.7%, and 21.7%, respectively. In the multivariable Cox regression model, higher CEA was associated with poor OS. Common adverse events included hand-food syndrome (77.9%), peripheral neuropathy (63.2%), fatigue (68.7%), and nausea (54.2%). Conclusion: The TCX regimen provided good survival and a better safety profile. More clinical trials are needed to confirm its treatment efficacy and safety, especially in comparison with other triplet regimens.

Herpes simplex virus type-2 seropositivity among ever married women in South and north Vietnam: a population-based study.

OBJECTIVE: To investigate herpes simplex virus type-2 (HSV-2) seropositivity and associated risk factors in Vietnamese women. METHODS: Cross-sectional study with personal interviews and gynecological examinations among population-based samples of ever married women, aged 15 to 69 years, living in Ho Chi Minh City (HCMC) and Hanoi in 1997. Type-specific IgG antibodies against HSV-2 were detected using HerpeSelect ELISA (Focus Diagnostics). Adjusted prevalence ratios were estimated with log-binomial regression. RESULTS: HSV-2 seroprevalence was higher in 1106 women from HCMC (30.8%, 95% CI: 28.1-33.4, age-standardized to 2000 world standard population) than in 1170 women from Hanoi (8.8%, 95% CI: 7.1-10.5). In HCMC, HSV-2 seroprevalence was higher for women who were not married, HPV DNA positive, current hormonal contraceptive users, or had a history of multiple sexual partners or spontaneous abortion. HCMC seroprevalence was inversely associated with educational attainment, age at first intercourse, and age at first pregnancy. In the multivariable model for HCMC, a trend of increasing HSV-2 seroprevalence with age was observed, and prevalence ratios were nearly identical to age-adjusted prevalence ratios for marital status, age at first pregnancy, and HPV DNA positivity. CONCLUSIONS: HSV-2 was notably less prevalent in Hanoi than HCMC, where it was associated with traditional HSV-2 risk factors. These results are likely explained by socio-cultural, historical, economic, and demographic factors related to urban-rural and regional differences. Future population-based studies should include men and never-married women as a next step toward obtaining a more nearly complete picture of HSV-2 epidemiology in Vietnam.

The seroprevalence and seroincidence of enterovirus71 infection in infants and children in Ho Chi Minh City, Viet Nam.

Enterovirus 71 (EV71)-associated hand, foot and mouth disease has emerged as a serious public health problem in South East Asia over the last decade. To better understand the prevalence of EV71 infection, we determined EV71 seroprevalence and seroincidence amongst healthy infants and children in Ho Chi Minh City, Viet Nam. In a cohort of 200 newborns, 55% of cord blood samples contained EV71 neutralizing antibodies and these decayed to undetectable levels by 6 months of age in 98% of infants. The EV71 neutralizing antibody seroconversion rate was 5.6% in the first year and 14% in the second year of life. In children 5-15 yrs of age, seroprevalence of EV71 neutralizing antibodies was 84% and in cord blood it was 55%. Taken together, these data suggest EV71 force of infection is high and highlights the need for more research into its epidemiology and pathogenesis in high disease burden countries.