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Journal of Biomedical Optics

Fibroblast autofluorescence in connective tissue disorders: a future tool for clinical and differential diagnosis?
Author(s): Monica Monici; Venere Basile; Giovanni Romano; Lucia Evangelisti; Laura Lucarini; Monica Attanasio; Enrico Bertini; Franco Fusi; Gian Franco Gensini; Guglielmina Pepe
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Paper Abstract

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.

Paper Details

Date Published: 1 September 2008
PDF: 8 pages
J. Biomed. Opt. 13(5) 054025 doi: 10.1117/1.2982533
Published in: Journal of Biomedical Optics Volume 13, Issue 5
Show Author Affiliations
Monica Monici, Univ. degli Studi di Firenze (Italy)
Venere Basile, Univ. degli Studi di Firenze (Italy)
Giovanni Romano, Univ. degli Studi di Firenze (Italy)
Lucia Evangelisti, Univ. degli Studi di Firenze (Italy)
Laura Lucarini, Univ. degli Studi di Firenze (Italy)
Monica Attanasio, Univ. degli Studi di Firenze (Italy)
Enrico Bertini, Bambino Gesù Children's Hospital (Italy)
Franco Fusi, Univ. degli Studi di Firenze (Italy)
Gian Franco Gensini, Univ. degli Studi di Firenze (Italy)
Guglielmina Pepe, Univ. degli Studi di Firenze (Italy)

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