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1.
Des Manage Rev ; 32(1): 20-25, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33821156

RESUMO

One constructive possibility was that as a designer, I could authentically capture my personal self-quarantine experience to identify user pain points, and improve the school's quarantine procedures to help more people in the future. Undeterred by an unplanned quarantine, a student uses technology and questions the experience from four perspectives in hopes of improving it for others.

3.
Mol Genet Metab ; 111(4): 507-12, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24613481

RESUMO

BACKGROUND: In view of the therapeutic benefits resulting from early intervention for Fabry disease, our team has implemented an enzyme-based newborn screening in Taiwan since 2008. However, we found that most heterozygous females cannot be detected. To improve the screening efficiency, a more effective method for GLA gene genotyping is necessary. METHODS: As the suspected mutations are limited to only 29 different spots in Taiwanese, a panel of Sequenom iPLEX assay was designed for rapid screening of GLA variations. To determine the accuracy and sensitivity of this assay, previously diagnosed and undiagnosed DNA samples were analyzed by this genotyping assay and Sanger sequencing. In addition, DNA extracted from dried blood spots was also tested. RESULTS: Sequenom iPLEX assay is accurate and cost-effective, identifying the sequence variations, which were designated in the panel. It identified common GLA variants in DNA samples extracted from whole blood or dried blood spots with 100% accuracy and sensitivity. CONCLUSIONS: Sequenom iPLEX assay is suitable for Fabry newborn screening when hotspot mutations and common variations are known in a well-studied population. In addition, this assay can also be applied for first-line determination of GLA variant sequences in suspected subjects of high-risk patients, or newborns.


Assuntos
DNA/genética , Doença de Fabry/genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Espectrometria de Massas/métodos , Mutação/genética , Sequência de Bases , Doença de Fabry/diagnóstico , Feminino , Humanos , Masculino , Reação em Cadeia da Polimerase , Taiwan
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