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1.
Genes (Basel) ; 13(8)2022 07 27.
Artículo en Inglés | MEDLINE | ID: mdl-36011258

RESUMEN

Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophy, typically affecting males in infancy. The disease causes progressive weakness and atrophy of skeletal muscles, with approximately 20,000 new cases diagnosed yearly. Currently, methods for diagnosing DMD are invasive, laborious, and unable to make accurate early detections. While there is no cure for DMD, there are limited treatments available for managing symptoms. As such, there is a crucial unmet need to develop a simple and non-invasive method for accurately detecting DMD as early as possible. Raman spectroscopy with chemometric analysis is shown to have the potential to fill this diagnostic need.


Asunto(s)
Distrofia Muscular de Duchenne , Animales , Masculino , Ratones , Ratones Endogámicos C57BL , Ratones Endogámicos mdx , Músculo Esquelético , Distrofia Muscular de Duchenne/diagnóstico , Distrofia Muscular de Duchenne/genética , Suero
2.
Sci Rep ; 10(1): 11734, 2020 07 16.
Artículo en Inglés | MEDLINE | ID: mdl-32678134

RESUMEN

Duchenne muscular dystrophy (DMD) is the most common and severe form of muscular dystrophy and affects boys in infancy or early childhood. Current methods for diagnosing DMD are often laborious, expensive, invasive, and typically diagnose the disease late in its progression. In an effort to improve the accuracy and ease of diagnosis, this study focused on developing a novel method for diagnosing DMD which combines Raman hyperspectroscopic analysis of blood serum with advanced statistical analysis. Partial least squares discriminant analysis was applied to the spectral dataset acquired from blood serum of a mouse model of Duchenne muscular dystrophy (mdx) and control mice. Cross-validation showed 95.2% sensitivity and 94.6% specificity for identifying diseased spectra. These results were verified via external validation, which achieved 100% successful classification accuracy at the donor level. This proof-of-concept study presents Raman hyperspectroscopic analysis of blood serum as an easy, fast, non-expensive, and minimally invasive detection method for distinguishing control and mdx model mice, with a strong potential for clinical diagnosis of DMD.


Asunto(s)
Biomarcadores/sangre , Distrofia Muscular de Duchenne/sangre , Distrofia Muscular de Duchenne/diagnóstico , Espectrometría Raman , Algoritmos , Animales , Modelos Animales de Enfermedad , Ratones , Ratones Endogámicos mdx , Modelos Genéticos , Músculo Esquelético/metabolismo , Músculo Esquelético/patología , Distrofia Muscular de Duchenne/genética , Pronóstico , Curva ROC
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