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  1. Bui Van N, Vo Hoang L, Bui Van T, Anh HNS, Minh HT, Do Nam K, et al.
    High Blood Press Cardiovasc Prev, 2019 Jun;26(3):239-246.
    PMID: 31020550 DOI: 10.1007/s40292-019-00314-8
    INTRODUCTION: Hypertension (HT) is considered as a major determinant of cardiovascular complications. However, few studies have addressed HT prevalence among adults aged 60 years and older in the northern mountainous region of Vietnam.

    AIM: To determine the prevalence of HT and its risk factors in the elderly in that area.

    METHODS: A cross-sectional study was conducted in a study area in the northern of Vietnam. We interviewed 354 adults aged 60 years or over who were randomly selected, and then measured their blood pressure.

    RESULTS: The overall HT prevalence was 62.15%. The isolated systolic hypertension (ISH) prevalence was 22.88%. There was a slight decrease in the proportion of HT by stage 1, stage 2 and stage 3 respectively. The univariate and multivariate logistic regression analysis indicated some risk factors for HT including age groups, body mass index (BMI) and waist-hip ratio (WHR) (p 

  2. Bui Van N, Vo Hoang L, Bui Van T, Anh HNS, Minh HT, Do Nam K, et al.
    PMID: 32232779 DOI: 10.1007/s40292-020-00366-1
    The author affiliations for Deepak B. Thimiri Govinda Raj which previously read.
  3. Thomassen M, Mesman RLS, Hansen TVO, Menendez M, Rossing M, Esteban-Sánchez A, et al.
    Hum Mutat, 2022 Dec;43(12):1921-1944.
    PMID: 35979650 DOI: 10.1002/humu.24449
    Skipping of BRCA2 exon 3 (∆E3) is a naturally occurring splicing event, complicating clinical classification of variants that may alter ∆E3 expression. This study used multiple evidence types to assess pathogenicity of 85 variants in/near BRCA2 exon 3. Bioinformatically predicted spliceogenic variants underwent mRNA splicing analysis using minigenes and/or patient samples. ∆E3 was measured using quantitative analysis. A mouse embryonic stem cell (mESC) based assay was used to determine the impact of 18 variants on mRNA splicing and protein function. For each variant, population frequency, bioinformatic predictions, clinical data, and existing mRNA splicing and functional results were collated. Variant class was assigned using a gene-specific adaptation of ACMG/AMP guidelines, following a recently proposed points-based system. mRNA and mESC analysis combined identified six variants with transcript and/or functional profiles interpreted as loss of function. Cryptic splice site use for acceptor site variants generated a transcript encoding a shorter protein that retains activity. Overall, 69/85 (81%) variants were classified using the points-based approach. Our analysis shows the value of applying gene-specific ACMG/AMP guidelines using a points-based approach and highlights the consideration of cryptic splice site usage to appropriately assign PVS1 code strength.
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