{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T11:00:05Z","timestamp":1789815605920,"version":"4.0.1"},"reference-count":36,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T00:00:00Z","timestamp":1759708800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T00:00:00Z","timestamp":1759708800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"DOI":"10.13039\/501100004243","name":"Prinses Beatrix Spierfonds","doi-asserted-by":"publisher","award":["W.OR15-23"],"award-info":[{"award-number":["W.OR15-23"]}],"id":[{"id":"10.13039\/501100004243","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2026,5]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>FSHD is an inherited myopathy with complex epigenetic pathogenesis and no causal treatment. Inflammation is thought to contribute to muscle pathology, but its nature remains unclear.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective:<\/jats:title>\n                    <jats:p>To characterize inflammatory infiltrates and morphological changes in MRI-guided FSHD muscle biopsies compared to healthy controls (HC).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>We performed turbo inversion recovery magnitude (TIRM) and DIXON MRI on 43 genetically confirmed FSHD patients (50\u2009\u00b1\u200912 years, 51% men) to assess inflammation and fatty infiltration. From 24 patients with at least one TIRM\u2009+\u2009leg muscle, two MRI-guided biopsies (TIRM\u2009+\u2009and TIRM\u2212) were obtained. Needle biopsies from 8 HC (36\u2009\u00b1\u200912 years, 62% men) served as controls. Samples underwent hematoxylin-phloxine staining and immunodetection of CD3, CD4, CD8, CD56, CD68, HLA-ABC, HLA-DR, and MAC. Electron microscopy provided ultrastructural analysis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>TIRM\u2009+\u2009FSHD samples showed significantly higher histopathology and inflammation grades than paired TIRM\u2212 and HC samples. Inflammatory infiltrates, mainly CD8\u2009+\u2009lymphocytes and CD68\u2009+\u2009macrophages, were present in 67% of TIRM\u2009+\u2009and 20% of TIRM\u2212 muscles. Electron microscopy revealed frequent myofibrillar disorganization in TIRM\u2009+\u2009samples.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>Our findings validate TIRM hyperintensity as a biomarker for active disease, correlating with histopathology and inflammation. The incidence of inflammation in FSHD appears underestimated, highlighting its role in disease pathogenesis. These results support targeting inflammation as a potential therapeutic strategy in FSHD.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/22143602251380426","type":"journal-article","created":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T17:09:56Z","timestamp":1759770596000},"page":"316-332","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":2,"title":["Immunohistological and electron microscopy profile of unique TIRM-MRI guided muscle biopsies of FSHD patients"],"prefix":"10.1177","volume":"13","author":[{"given":"Anna","family":"Greco","sequence":"first","affiliation":[{"name":"Radboud University Medical Center"},{"name":"Laboratory of Experimental Internal Medicine, Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benno","family":"Kusters","sequence":"additional","affiliation":[{"name":"Radboud University Medical Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ritse","family":"Mann","sequence":"additional","affiliation":[{"name":"Radboud University Medical Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jurgen","family":"Futterer","sequence":"additional","affiliation":[{"name":"Radboud University Medical Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leon","family":"de Jong","sequence":"additional","affiliation":[{"name":"Radboud University Medical Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yordy","family":"Welling","sequence":"additional","affiliation":[{"name":"Radboud University Medical Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marieke","family":"Ploegmakers","sequence":"additional","affiliation":[{"name":"Radboud University Medical Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ger JM","family":"Pruijn","sequence":"additional","affiliation":[{"name":"Radboud University Nijmegen"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leo AB","family":"Joosten","sequence":"additional","affiliation":[{"name":"Laboratory of Experimental Internal Medicine, Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baziel G. 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