Publications by authors named "Kim van Tran"

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.

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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.
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An SPE-based cleanup protocol was developed for ultra-performance LC (UPLC)/MS/MS determination of residues of the common aminoglycoside antibiotics streptomycin, dihydrostreptomycin, neomycin, and gentamicin in bovine milk, kidney, and muscle. Recoveries for all compounds except neomycin ranged from 80 to 104% for all matrixes studied; recoveries for neomycin ranged from 71 to 84%. Intraday and interday precision data were under 15% for all sample matrixes.

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