A Novel -72 (T→A) ß-Promoter Mutation Causing Slightly Elevated HbA2 in a Vietnamese Heterozygote.

We report a novel ß+-thalassemia mutation found in a Vietnamese family. The molecular defect T→A lies at -72 of the ß-globin gene promoter, within the conserved CCAAT box. The index case was a 5-year-old child having red blood cells indices close to normal and slightly increased level of HbA2 (3.96%). The expression of the mutated ß allele was inferred by luciferase reporter assay in K562 cells. The ß -72 determinant is the eighth ß-thalassemic mutation identified in Vietnam and it was not previously reported in any population. The absence of homozygous or compound heterozygous states did not allow us to precisely predict either its clinical impact or its relevance in management programs. Our results further underline the importance of identifying and characterizing new or rare ß+-thalassemic alleles in carrier screening and prenatal diagnosis.

Cholic acid-based novel micellar nanoplatform for delivering FDA-approved taxanes.

AIM: To structurally modify our existing cholic acid (CA)-based telodendrimer (TD; PEG5K-CA8) for effective micellar nanoencapsulation and delivery of the US FDA-approved members of taxane family. MATERIALS & METHODS: Generation of hybrid TDs was achieved by replacing four of the eight CAs with biocompatible organic moieties using solution-phase peptide synthesis. Drug loading was done using the standard evaporation method. RESULTS: Hybrid TDs can generate micelles with narrow size distributions, low critical micelle concentration values (1-6 µM), better hematocompatibility and lack of in vitro cytotoxicity. CONCLUSION: Along with PEG5K-CA8, CA-based hybrid nanoplatform is the first of its kind that can stably encapsulate all three FDA-approved taxanes with nearly 100% efficiency up to 20% (w/w) loading.

Application of techniques of molecular biology in diagnosis of fragile X syndrome

Background: Fragile X Syndrome (FXS) is the second cause of Mental Retardation (MR) and the first cause of familiar MR. This syndrome affects up to 1/4000 men and 1/8000 women. X syndrome is often diagnosed by molecular biology technique such as RCR and Southern blot. Until now there is no study on FXS in Vietnam. Objectives: This study is aimed at: (1) Determine FXS among children with MR by technique of molecular biology. (2) Determine the mutation of FMR1 gen in families having children with FXS. Subject and Method: 214 children between 6 and 16 years of age (136 male and 78 female) with MR were analyzed FMR1 gen by PCR and Southern blot techniques. Families of children with FXS were also analyzed. Result and conclusion: This is the first study on FXS using the techniques of molecular biology in Vietnam. Identified 3 children with FXS, accounting for 1.4% of MR. Children with FXS and members with full mutation and premutation were found.

Study of prevalence of mental retardation among children in some quarters and communes of Hue city

Background: Mental retardation is a common pathological state in children, accounting for about 1 - 3%. Children with mental retardation should have a life of integrity and proper support. The discovery and assessment the children will help us to orient the education, assistance and early intervention for them at each location. Objectives: This study aimed at determining the prevalence of mental retardation (MR) among children in some quarters and communes of Hue city and the degrees of mental retardation in these children. Subjects and method: Screening by WHO questionnaire \u201cTen Question screen for disability\ufffd?and learning results (if possible) of children from 6 to under 16 years old in 5 quarters (urban) and 2 communes (rural) randomly selected in Hue. Diagnostics and evaluations are based on the criteria of ICD \ufffd?10. Results: The prevalence of MR in this study was 0.94% (95%CI = 0.82 \ufffd?1.07), 1.18% in rural area and 0.84% in urban area; 1.16% among boys and 0.70% among girls. Mild MR accounts for 62.67% moderate: 19.36%, severe: 11.52% and profound: 6.45%. Conclusion: The prevalence was statistically significant higher in rural area than in urban area and in boys than in girls. There were predominant percentages of severe and profound MR.