Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional study
We conducted a prospective multinational study of muscle pathology using magnetic resonance imaging (MRI) in patients with limb-girdle muscular dystrophy 2I (LGMD2I). Thirty eight adult ambulant LGMD2I patients (19 male; 19 female) with genetically identical mutations (c.826C>A) in the fukutin-re...
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| Veröffentlicht in: | PloS one 2014-02, Vol.9 (2), p.e90377-e90377 |
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| creator | Willis, Tracey A Hollingsworth, Kieren G Coombs, Anna Sveen, Marie-Louise Andersen, Soren Stojkovic, Tanya Eagle, Michelle Mayhew, Anna de Sousa, Paulo Loureiro Dewar, Liz Morrow, Jasper M Sinclair, Christopher D J Thornton, John S Bushby, Kate Lochmuller, Hanns Hanna, Michael G Hogrel, Jean-Yves Carlier, Pierre G Vissing, John Straub, Volker |
| description | We conducted a prospective multinational study of muscle pathology using magnetic resonance imaging (MRI) in patients with limb-girdle muscular dystrophy 2I (LGMD2I). Thirty eight adult ambulant LGMD2I patients (19 male; 19 female) with genetically identical mutations (c.826C>A) in the fukutin-related protein (FKRP) gene were recruited. In each patient, T1-weighted (T1w) imaging was assessed by qualitative grading for 15 individual lower limb muscles and quantitative Dixon imaging was analysed on 14 individual lower limb muscles by region of interest analysis. We described the pattern and appearance of muscle pathology and gender differences, not previously reported for LGMD2I. Diffuse fat infiltration of the gastrocnemii muscles was demonstrated in females, whereas in males fat infiltration was more prominent in the medial than the lateral gastrocnemius (p = 0.05). In the anterior thigh of males, in contrast to females, median fat infiltration in the vastus medialis muscle (45.7%) exceeded that in the vastus lateralis muscle (11.2%) (p |
| doi_str_mv | 10.1371/journal.pone.0090377 |
| format | Article |
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Thirty eight adult ambulant LGMD2I patients (19 male; 19 female) with genetically identical mutations (c.826C>A) in the fukutin-related protein (FKRP) gene were recruited. In each patient, T1-weighted (T1w) imaging was assessed by qualitative grading for 15 individual lower limb muscles and quantitative Dixon imaging was analysed on 14 individual lower limb muscles by region of interest analysis. We described the pattern and appearance of muscle pathology and gender differences, not previously reported for LGMD2I. Diffuse fat infiltration of the gastrocnemii muscles was demonstrated in females, whereas in males fat infiltration was more prominent in the medial than the lateral gastrocnemius (p = 0.05). In the anterior thigh of males, in contrast to females, median fat infiltration in the vastus medialis muscle (45.7%) exceeded that in the vastus lateralis muscle (11.2%) (p<0.005). MRI is non-invasive, objective and does not rely on patient effort compared to clinical and physical measures that are currently employed. We demonstrated (i) that the quantitative Dixon technique is an objective quantitative marker of disease and (ii) new observations of gender specific patterns of muscle involvement in LGMD2I.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0090377</identifier><identifier>PMID: 24587344</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>Adipose Tissue, White - metabolism ; Adipose Tissue, White - pathology ; Adolescent ; Adult ; Age ; Congenital diseases ; Cross-Sectional Studies ; Disease ; Dystrophy ; Ethics ; Europe ; Evaluation ; FCMD protein ; Female ; Females ; Gender aspects ; Humans ; Image processing ; Image Processing, Computer-Assisted ; Infiltration ; Magnetic resonance ; Magnetic resonance imaging ; Magnetic Resonance Imaging - methods ; Male ; Males ; Medical research ; Medicine ; Middle Aged ; Muscle, Skeletal - metabolism ; Muscle, Skeletal - pathology ; Muscles ; Muscular Dystrophies, Limb-Girdle - genetics ; Muscular Dystrophies, Limb-Girdle - pathology ; Muscular dystrophy ; Mutation ; Neurology ; Neuromuscular diseases ; Neurosciences ; NMR ; Nuclear magnetic resonance ; Pathology ; Patients ; Pentosyltransferases ; Proteins - genetics ; Resonance ; Sex differences ; Sex Factors ; Spectrum analysis ; Thigh</subject><ispartof>PloS one, 2014-02, Vol.9 (2), p.e90377-e90377</ispartof><rights>COPYRIGHT 2014 Public Library of Science</rights><rights>2014 Willis et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2014 Willis et al 2014 Willis et al</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c692t-68e10e170ec9730a9001a2d34619bf6996d8a2e19bb0959513f2e87c3c716ab3</citedby><cites>FETCH-LOGICAL-c692t-68e10e170ec9730a9001a2d34619bf6996d8a2e19bb0959513f2e87c3c716ab3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3938727/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3938727/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,860,881,2096,2915,23845,27901,27902,53766,53768,79343,79344</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24587344$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><contributor>Sampaolesi, Maurilio</contributor><creatorcontrib>Willis, Tracey A</creatorcontrib><creatorcontrib>Hollingsworth, Kieren G</creatorcontrib><creatorcontrib>Coombs, Anna</creatorcontrib><creatorcontrib>Sveen, Marie-Louise</creatorcontrib><creatorcontrib>Andersen, Soren</creatorcontrib><creatorcontrib>Stojkovic, Tanya</creatorcontrib><creatorcontrib>Eagle, Michelle</creatorcontrib><creatorcontrib>Mayhew, Anna</creatorcontrib><creatorcontrib>de Sousa, Paulo Loureiro</creatorcontrib><creatorcontrib>Dewar, Liz</creatorcontrib><creatorcontrib>Morrow, Jasper M</creatorcontrib><creatorcontrib>Sinclair, Christopher D J</creatorcontrib><creatorcontrib>Thornton, John S</creatorcontrib><creatorcontrib>Bushby, Kate</creatorcontrib><creatorcontrib>Lochmuller, Hanns</creatorcontrib><creatorcontrib>Hanna, Michael G</creatorcontrib><creatorcontrib>Hogrel, Jean-Yves</creatorcontrib><creatorcontrib>Carlier, Pierre G</creatorcontrib><creatorcontrib>Vissing, John</creatorcontrib><creatorcontrib>Straub, Volker</creatorcontrib><title>Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional study</title><title>PloS one</title><addtitle>PLoS One</addtitle><description>We conducted a prospective multinational study of muscle pathology using magnetic resonance imaging (MRI) in patients with limb-girdle muscular dystrophy 2I (LGMD2I). Thirty eight adult ambulant LGMD2I patients (19 male; 19 female) with genetically identical mutations (c.826C>A) in the fukutin-related protein (FKRP) gene were recruited. In each patient, T1-weighted (T1w) imaging was assessed by qualitative grading for 15 individual lower limb muscles and quantitative Dixon imaging was analysed on 14 individual lower limb muscles by region of interest analysis. We described the pattern and appearance of muscle pathology and gender differences, not previously reported for LGMD2I. Diffuse fat infiltration of the gastrocnemii muscles was demonstrated in females, whereas in males fat infiltration was more prominent in the medial than the lateral gastrocnemius (p = 0.05). In the anterior thigh of males, in contrast to females, median fat infiltration in the vastus medialis muscle (45.7%) exceeded that in the vastus lateralis muscle (11.2%) (p<0.005). MRI is non-invasive, objective and does not rely on patient effort compared to clinical and physical measures that are currently employed. We demonstrated (i) that the quantitative Dixon technique is an objective quantitative marker of disease and (ii) new observations of gender specific patterns of muscle involvement in LGMD2I.</description><subject>Adipose Tissue, White - metabolism</subject><subject>Adipose Tissue, White - pathology</subject><subject>Adolescent</subject><subject>Adult</subject><subject>Age</subject><subject>Congenital diseases</subject><subject>Cross-Sectional Studies</subject><subject>Disease</subject><subject>Dystrophy</subject><subject>Ethics</subject><subject>Europe</subject><subject>Evaluation</subject><subject>FCMD protein</subject><subject>Female</subject><subject>Females</subject><subject>Gender aspects</subject><subject>Humans</subject><subject>Image processing</subject><subject>Image Processing, Computer-Assisted</subject><subject>Infiltration</subject><subject>Magnetic resonance</subject><subject>Magnetic resonance imaging</subject><subject>Magnetic Resonance Imaging - methods</subject><subject>Male</subject><subject>Males</subject><subject>Medical research</subject><subject>Medicine</subject><subject>Middle Aged</subject><subject>Muscle, Skeletal - metabolism</subject><subject>Muscle, Skeletal - pathology</subject><subject>Muscles</subject><subject>Muscular Dystrophies, Limb-Girdle - genetics</subject><subject>Muscular Dystrophies, Limb-Girdle - pathology</subject><subject>Muscular dystrophy</subject><subject>Mutation</subject><subject>Neurology</subject><subject>Neuromuscular diseases</subject><subject>Neurosciences</subject><subject>NMR</subject><subject>Nuclear magnetic resonance</subject><subject>Pathology</subject><subject>Patients</subject><subject>Pentosyltransferases</subject><subject>Proteins - genetics</subject><subject>Resonance</subject><subject>Sex differences</subject><subject>Sex Factors</subject><subject>Spectrum analysis</subject><subject>Thigh</subject><issn>1932-6203</issn><issn>1932-6203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><sourceid>DOA</sourceid><recordid>eNqNk9-L1DAQx4so3rn6H4gWBNGHrvnRJo0PwnH4Y-HgUA9fQ5qm3SzZZE3Sw_3vTXd7x1buQfLQZPKZ73QmM1n2EoIlxBR-2LjBW2GWO2fVEgAGMKWPsnPIMCoIAvjxyf4sexbCBoAK14Q8zc5QWdUUl-V5Fr4PwkYdRdS3Kt-K3qqoZe5VcFZYqXKdbNr2uba50dum6LVvTSKHIAcjfN7uQ_Rut97naPUxF-nCRG2TXPI3ufQuhCIoOZ1DHNr98-xJJ0xQL6bvIrv58vnm8ltxdf11dXlxVUjCUCxIrSBQkAIlGcVAMACgQC0uCWRNRxgjbS2QSocGsIpVEHdI1VRiSSERDV5kr4-yO-MCn8oVOKwARhSVqTiLbHUkWic2fOdTrn7PndD8YHC-58KnchjFa8BQzRrYyFaWAiHWwRqVhHWdbCCqSNL6NEUbmq1qpbLRCzMTnd9Yvea9u-WY4ZoimgTeTQLe_R5UiHyrg1TGCKvccPjvEhJY0hF98w_6cHYT1YuUgLadS3HlKMovSlqndQy7fIBKq1VbLVNvdTrZZw7vZw6JiepP7MUQAl_9_PH_7PWvOfv2hF0rYeI6ODOMnRPmYHkED83lVXdfZAj4OBp31eDjaPBpNJLbq9MHune6mwX8F3A0CiU</recordid><startdate>20140228</startdate><enddate>20140228</enddate><creator>Willis, Tracey A</creator><creator>Hollingsworth, Kieren G</creator><creator>Coombs, Anna</creator><creator>Sveen, Marie-Louise</creator><creator>Andersen, Soren</creator><creator>Stojkovic, Tanya</creator><creator>Eagle, Michelle</creator><creator>Mayhew, Anna</creator><creator>de Sousa, Paulo Loureiro</creator><creator>Dewar, Liz</creator><creator>Morrow, Jasper M</creator><creator>Sinclair, Christopher D J</creator><creator>Thornton, John S</creator><creator>Bushby, Kate</creator><creator>Lochmuller, Hanns</creator><creator>Hanna, Michael G</creator><creator>Hogrel, Jean-Yves</creator><creator>Carlier, Pierre G</creator><creator>Vissing, John</creator><creator>Straub, Volker</creator><general>Public Library of Science</general><general>Public Library of Science (PLoS)</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>IOV</scope><scope>ISR</scope><scope>3V.</scope><scope>7QG</scope><scope>7QL</scope><scope>7QO</scope><scope>7RV</scope><scope>7SN</scope><scope>7SS</scope><scope>7T5</scope><scope>7TG</scope><scope>7TM</scope><scope>7U9</scope><scope>7X2</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FG</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABJCF</scope><scope>ABUWG</scope><scope>AEUYN</scope><scope>AFKRA</scope><scope>ARAPS</scope><scope>ATCPS</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BGLVJ</scope><scope>BHPHI</scope><scope>C1K</scope><scope>CCPQU</scope><scope>D1I</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>KB.</scope><scope>KB0</scope><scope>KL.</scope><scope>L6V</scope><scope>LK8</scope><scope>M0K</scope><scope>M0S</scope><scope>M1P</scope><scope>M7N</scope><scope>M7P</scope><scope>M7S</scope><scope>NAPCQ</scope><scope>P5Z</scope><scope>P62</scope><scope>P64</scope><scope>PATMY</scope><scope>PDBOC</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PTHSS</scope><scope>PYCSY</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope><scope>DOA</scope></search><sort><creationdate>20140228</creationdate><title>Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional study</title><author>Willis, Tracey A ; Hollingsworth, Kieren G ; Coombs, Anna ; Sveen, Marie-Louise ; Andersen, Soren ; Stojkovic, Tanya ; Eagle, Michelle ; Mayhew, Anna ; de Sousa, Paulo Loureiro ; Dewar, Liz ; Morrow, Jasper M ; Sinclair, Christopher D J ; Thornton, John S ; Bushby, Kate ; Lochmuller, Hanns ; Hanna, Michael G ; Hogrel, Jean-Yves ; Carlier, Pierre G ; Vissing, John ; Straub, Volker</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c692t-68e10e170ec9730a9001a2d34619bf6996d8a2e19bb0959513f2e87c3c716ab3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>Adipose Tissue, White - 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Academic</collection><collection>ProQuest Engineering Collection</collection><collection>ProQuest Biological Science Collection</collection><collection>Agricultural Science Database</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Biological Science Database</collection><collection>Engineering Database</collection><collection>Nursing & Allied Health Premium</collection><collection>Advanced Technologies & Aerospace Database</collection><collection>ProQuest Advanced Technologies & Aerospace Collection</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Environmental Science Database</collection><collection>Materials Science Collection</collection><collection>Publicly Available Content Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>Engineering Collection</collection><collection>Environmental Science Collection</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><collection>DOAJ Directory of Open Access Journals</collection><jtitle>PloS one</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Willis, Tracey A</au><au>Hollingsworth, Kieren G</au><au>Coombs, Anna</au><au>Sveen, Marie-Louise</au><au>Andersen, Soren</au><au>Stojkovic, Tanya</au><au>Eagle, Michelle</au><au>Mayhew, Anna</au><au>de Sousa, Paulo Loureiro</au><au>Dewar, Liz</au><au>Morrow, Jasper M</au><au>Sinclair, Christopher D J</au><au>Thornton, John S</au><au>Bushby, Kate</au><au>Lochmuller, Hanns</au><au>Hanna, Michael G</au><au>Hogrel, Jean-Yves</au><au>Carlier, Pierre G</au><au>Vissing, John</au><au>Straub, Volker</au><au>Sampaolesi, Maurilio</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional study</atitle><jtitle>PloS one</jtitle><addtitle>PLoS One</addtitle><date>2014-02-28</date><risdate>2014</risdate><volume>9</volume><issue>2</issue><spage>e90377</spage><epage>e90377</epage><pages>e90377-e90377</pages><issn>1932-6203</issn><eissn>1932-6203</eissn><abstract>We conducted a prospective multinational study of muscle pathology using magnetic resonance imaging (MRI) in patients with limb-girdle muscular dystrophy 2I (LGMD2I). Thirty eight adult ambulant LGMD2I patients (19 male; 19 female) with genetically identical mutations (c.826C>A) in the fukutin-related protein (FKRP) gene were recruited. In each patient, T1-weighted (T1w) imaging was assessed by qualitative grading for 15 individual lower limb muscles and quantitative Dixon imaging was analysed on 14 individual lower limb muscles by region of interest analysis. We described the pattern and appearance of muscle pathology and gender differences, not previously reported for LGMD2I. Diffuse fat infiltration of the gastrocnemii muscles was demonstrated in females, whereas in males fat infiltration was more prominent in the medial than the lateral gastrocnemius (p = 0.05). In the anterior thigh of males, in contrast to females, median fat infiltration in the vastus medialis muscle (45.7%) exceeded that in the vastus lateralis muscle (11.2%) (p<0.005). MRI is non-invasive, objective and does not rely on patient effort compared to clinical and physical measures that are currently employed. We demonstrated (i) that the quantitative Dixon technique is an objective quantitative marker of disease and (ii) new observations of gender specific patterns of muscle involvement in LGMD2I.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>24587344</pmid><doi>10.1371/journal.pone.0090377</doi><tpages>e90377</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1932-6203 |
| ispartof | PloS one, 2014-02, Vol.9 (2), p.e90377-e90377 |
| issn | 1932-6203 1932-6203 |
| language | eng |
| recordid | cdi_plos_journals_1503272419 |
| source | MEDLINE; DOAJ Directory of Open Access Journals; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; PubMed Central; Free Full-Text Journals in Chemistry; Public Library of Science (PLoS) |
| subjects | Adipose Tissue, White - metabolism Adipose Tissue, White - pathology Adolescent Adult Age Congenital diseases Cross-Sectional Studies Disease Dystrophy Ethics Europe Evaluation FCMD protein Female Females Gender aspects Humans Image processing Image Processing, Computer-Assisted Infiltration Magnetic resonance Magnetic resonance imaging Magnetic Resonance Imaging - methods Male Males Medical research Medicine Middle Aged Muscle, Skeletal - metabolism Muscle, Skeletal - pathology Muscles Muscular Dystrophies, Limb-Girdle - genetics Muscular Dystrophies, Limb-Girdle - pathology Muscular dystrophy Mutation Neurology Neuromuscular diseases Neurosciences NMR Nuclear magnetic resonance Pathology Patients Pentosyltransferases Proteins - genetics Resonance Sex differences Sex Factors Spectrum analysis Thigh |
| title | Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional study |
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