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Magnetic resonance imaging pattern variability in dysferlinopathy
The widespread use of magnetic resonance imaging (MRI) in the diagnosis of myopathies has made it possible to clarify the typical MRI pattern of dysferlinopathy. However, sufficient attention has not been given to the variability of MRI patterns in dysferlinopathy. MATERIALS AND METHODS: Twenty-five...
Autores principales: | , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Pacini Editore Srl
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8744010/ https://www.ncbi.nlm.nih.gov/pubmed/35047756 http://dx.doi.org/10.36185/2532-1900-059 |
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author | Bardakov, Sergey N. Tsargush, Vadim A. Carlier, Pierre G. Nikitin, Sergey S. Kurbatov, Sergey A. Titova, Angelina A. Umakhanova, Zoya R. Akhmedova, Patimat G. Magomedova, Raisat M. Zheleznyak, Igor S. Emelyantsev, Alexander A. Berezhnaya, Ekaterina N. A.Yakovlev, Ivan Isaev, Artur A. Deev, Roman V. |
author_facet | Bardakov, Sergey N. Tsargush, Vadim A. Carlier, Pierre G. Nikitin, Sergey S. Kurbatov, Sergey A. Titova, Angelina A. Umakhanova, Zoya R. Akhmedova, Patimat G. Magomedova, Raisat M. Zheleznyak, Igor S. Emelyantsev, Alexander A. Berezhnaya, Ekaterina N. A.Yakovlev, Ivan Isaev, Artur A. Deev, Roman V. |
author_sort | Bardakov, Sergey N. |
collection | PubMed |
description | The widespread use of magnetic resonance imaging (MRI) in the diagnosis of myopathies has made it possible to clarify the typical MRI pattern of dysferlinopathy. However, sufficient attention has not been given to the variability of MRI patterns in dysferlinopathy. MATERIALS AND METHODS: Twenty-five patients with the clinical manifestations of dysferlinopathy were examined. For all patients, creatine phosphokinase levels were measured and molecular genetics were examined. In two patients, immunohistochemical examinations of muscle biopsies were performed. MRI scanning was included T2 multi-slice multi-echo, T1 weighted, T2 weighted and Short Tau Inversion Recovery T2 weighted sequences. Quantitative and semi-quantitative evaluations of fatty replacement and swelling of the muscles were undertaken. RESULTS: Variability in the MRI patterns was lowest in the pelvis and leg muscles and highest in the thigh muscles. Three main types of MRI patterns were distinguished: posterior-dominant (80%), anterior-dominant (16%), and diffuse (4%). Among patients with the anterior-dominant pattern, the collagen-like variant (4%), proximal variant (4%) and pseudo-myositis (8%) were separately distinguished. CONCLUSIONS: Awareness of atypical MRI patterns in dysferlinopathy is important for increasing the efficiency of routine diagnostics and optimizing the search for causative gene mutations. |
format | Online Article Text |
id | pubmed-8744010 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Pacini Editore Srl |
record_format | MEDLINE/PubMed |
spelling | pubmed-87440102022-01-18 Magnetic resonance imaging pattern variability in dysferlinopathy Bardakov, Sergey N. Tsargush, Vadim A. Carlier, Pierre G. Nikitin, Sergey S. Kurbatov, Sergey A. Titova, Angelina A. Umakhanova, Zoya R. Akhmedova, Patimat G. Magomedova, Raisat M. Zheleznyak, Igor S. Emelyantsev, Alexander A. Berezhnaya, Ekaterina N. A.Yakovlev, Ivan Isaev, Artur A. Deev, Roman V. Acta Myol Original Article The widespread use of magnetic resonance imaging (MRI) in the diagnosis of myopathies has made it possible to clarify the typical MRI pattern of dysferlinopathy. However, sufficient attention has not been given to the variability of MRI patterns in dysferlinopathy. MATERIALS AND METHODS: Twenty-five patients with the clinical manifestations of dysferlinopathy were examined. For all patients, creatine phosphokinase levels were measured and molecular genetics were examined. In two patients, immunohistochemical examinations of muscle biopsies were performed. MRI scanning was included T2 multi-slice multi-echo, T1 weighted, T2 weighted and Short Tau Inversion Recovery T2 weighted sequences. Quantitative and semi-quantitative evaluations of fatty replacement and swelling of the muscles were undertaken. RESULTS: Variability in the MRI patterns was lowest in the pelvis and leg muscles and highest in the thigh muscles. Three main types of MRI patterns were distinguished: posterior-dominant (80%), anterior-dominant (16%), and diffuse (4%). Among patients with the anterior-dominant pattern, the collagen-like variant (4%), proximal variant (4%) and pseudo-myositis (8%) were separately distinguished. CONCLUSIONS: Awareness of atypical MRI patterns in dysferlinopathy is important for increasing the efficiency of routine diagnostics and optimizing the search for causative gene mutations. Pacini Editore Srl 2021-12-31 /pmc/articles/PMC8744010/ /pubmed/35047756 http://dx.doi.org/10.36185/2532-1900-059 Text en ©2021 Gaetano Conte Academy - Mediterranean Society of Myology, Naples, Italy https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article distributed in accordance with the CC-BY-NC-ND (Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International) license. The article can be used by giving appropriate credit and mentioning the license, but only for non-commercial purposes and only in the original version. For further information: https://creativecommons.org/licenses/by-nc-nd/4.0/deed.en |
spellingShingle | Original Article Bardakov, Sergey N. Tsargush, Vadim A. Carlier, Pierre G. Nikitin, Sergey S. Kurbatov, Sergey A. Titova, Angelina A. Umakhanova, Zoya R. Akhmedova, Patimat G. Magomedova, Raisat M. Zheleznyak, Igor S. Emelyantsev, Alexander A. Berezhnaya, Ekaterina N. A.Yakovlev, Ivan Isaev, Artur A. Deev, Roman V. Magnetic resonance imaging pattern variability in dysferlinopathy |
title | Magnetic resonance imaging pattern variability in dysferlinopathy |
title_full | Magnetic resonance imaging pattern variability in dysferlinopathy |
title_fullStr | Magnetic resonance imaging pattern variability in dysferlinopathy |
title_full_unstemmed | Magnetic resonance imaging pattern variability in dysferlinopathy |
title_short | Magnetic resonance imaging pattern variability in dysferlinopathy |
title_sort | magnetic resonance imaging pattern variability in dysferlinopathy |
topic | Original Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8744010/ https://www.ncbi.nlm.nih.gov/pubmed/35047756 http://dx.doi.org/10.36185/2532-1900-059 |
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