1 September 2008 Fibroblast autofluorescence in connective tissue disorders: a future tool for clinical and differential diagnosis?
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Marfan syndrome (MFS) is an inherited disorder of connective tissue due to mutations in FBN1 (90%) and TGFBR1 and TGFBR2 (5 to 10%) genes. Clinical and differential diagnosis is difficult because of the inter- and intrafamiliar marked heterogeneity and the variable onset age of clinical manifestations. Among the disorders, in differential diagnosis, thoracic aortic aneurysm (TAA) and Ullrich scleroatonic muscular dystrophy (UCMD) are reported. We evaluate the possibility of utilizing autofluorescence (AF) analysis as a diagnostic tool in the clinical and/or differential diagnosis of MFS and related disorders and in the investigation of the molecular mechanisms involved. Both multispectral imaging autofluorescence microscopy (MIAM) and autofluorescence microspectroscopy (AMS) have been used to characterize AF emission of fibroblasts from patients affected by inherited connective tissue disorders. Our preliminary results show significant differences in AF emission between normal and pathological fibroblasts, suggesting possible improvement in diagnostics of connective tissue disorders by AF analysis.
© (2008) Society of Photo-Optical Instrumentation Engineers (SPIE)
Monica Monici, Monica Monici, Venere Basile, Venere Basile, Giovanni Romano, Giovanni Romano, Lucia Evangelisti, Lucia Evangelisti, Laura Lucarini, Laura Lucarini, Monica Attanasio, Monica Attanasio, Enrico Bertini, Enrico Bertini, Franco Fusi, Franco Fusi, Gian Franco Gensini, Gian Franco Gensini, Guglielmina Pepe, Guglielmina Pepe, } "Fibroblast autofluorescence in connective tissue disorders: a future tool for clinical and differential diagnosis?," Journal of Biomedical Optics 13(5), 054025 (1 September 2008). https://doi.org/10.1117/1.2982533 . Submission:

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