مورد إلكتروني
Muscle fibrosis as a prognostic biomarker in facioscapulohumeral muscular dystrophy: a retrospective cohort study
| العنوان: | Muscle fibrosis as a prognostic biomarker in facioscapulohumeral muscular dystrophy: a retrospective cohort study |
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| المؤلفون: | Ragozzino, Elvira, Bortolani, S., Di Pietro, Lorena, Papait, Andrea, Parolini, Ornella, Monforte, Mauro, Tasca, Giorgio, Ricci, Enzo, Ragozzino E., Di Pietro L. (ORCID:0000-0001-5723-2169), Papait A. (ORCID:0000-0003-1229-9671), Parolini O. (ORCID:0000-0002-5211-6430), Monforte M., Tasca G., Ricci E. (ORCID:0000-0003-3092-3597) |
| بيانات النشر: | BMC 2023 |
| نوع الوثيقة: | Electronic Resource |
| مستخلص: | Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant epigenetic disorder with highly variable muscle involvement and disease progression. Ongoing clinical trials, aimed at counteracting muscle degeneration and disease progression in FSHD patients, increase the need for reliable biomarkers. Muscle magnetic resonance imaging (MRI) studies showed that the appearance of STIR-positive (STIR+) lesions in FSHD muscles represents an initial stage of muscle damage, preceding irreversible adipose changes. Our study aimed to investigate fibrosis, a parameter of muscle degeneration undetectable by MRI, in relation to disease activity and progression of FSHD muscles. We histologically evaluated collagen in FSHD1 patients' (STIR+ n = 27, STIR- n = 28) and healthy volunteers' (n = 12) muscles by picrosirius red staining. All patients (n = 55) performed muscle MRI before biopsy, 45 patients also after 1 year and 36 patients also after 2 years. Fat content (T1 signal) and oedema/inflammation (STIR signal) were evaluated at baseline and at 1- and 2-year MRI follow-up. STIR+ muscles showed significantly higher collagen compared to both STIR- (p = 0.001) and healthy muscles (p < 0.0001). STIR- muscles showed a higher collagen content compared to healthy muscles (p = 0.0194). FSHD muscles with a worsening in fatty infiltration during 1- (P = 0.007) and 2-year (P < 0.0001) MRI follow-up showed a collagen content of 3.6- and 3.7-fold higher compared to FSHD muscles with no sign of progression. Moreover, the fibrosis was significantly higher in STIR+ muscles who showed a worsening in fatty infiltration in a timeframe of 2 years compared to both STIR- (P = 0.0006) and STIR+ muscles with no sign of progression (P = 0.02). Fibrosis is a sign of muscle degeneration undetectable at MRI never deeply investigated in FSHD patients. Our data show that 23/27 of STIR+ and 12/28 STIR- muscles have a higher amount of collagen deposition compared to healthy muscles. Fibrosis is h |
| مصطلحات الفهرس: | Biomarker, Facioscapulohumeral muscular dystrophy, Immune cell infiltrates, Muscle degeneration, Muscle fibrosis, Muscle magnetic resonance imaging, Neuromuscular disease, Skeletal muscle, Settore MED/26 - NEUROLOGIA, info:eu-repo/semantics/article |
| URL: | info:eu-repo/semantics/altIdentifier/pmid/37849014 info:eu-repo/semantics/altIdentifier/wos/WOS:001090923400001 volume:11 issue:1 firstpage:N/A lastpage:N/A issueyear:2023 journal:ACTA NEUROPATHOLOGICA COMMUNICATIONS |
| الإتاحة: | Open access content. Open access content info:eu-repo/semantics/openAccess |
| ملاحظة: | English |
| أرقام أخرى: | SYC oai:publicatt.unicatt.it:10807/277857 10.1186/s40478-023-01660-4 info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85174251088 1439664901 |
| المصدر المساهم: | UNIV CATTOLICA DEL SACRO CUORE From OAIster®, provided by the OCLC Cooperative. |
| رقم الأكسشن: | edsoai.on1439664901 |
| قاعدة البيانات: | OAIster |
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