{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T04:33:14Z","timestamp":1789446794849,"version":"build-2803163510"},"reference-count":60,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2024,1,12]],"date-time":"2024-01-12T00:00:00Z","timestamp":1705017600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2024,3,5]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>FSHD is a highly prevalent inherited myopathy with a still poorly understood pathology.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective:<\/jats:title>\n                    <jats:p>To investigate whether proinflammatory cytokines are associated with FSHD and which specific innate immune cells are involved in its pathology.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>First, we measured circulating cytokines in serum samples: IL-6 (FSHD, n\u200a=\u200a150; HC, n\u200a=\u200a98); TNF (FSHD, n\u200a=\u200a150; HC, n\u200a=\u200a59); IL-1\u03b1 (FSHD, n\u200a=\u200a150; HC, n\u200a=\u200a66); IL-1\u03b2 (FSHD, n\u200a=\u200a150; HC, n\u200a=\u200a98); MCP-1 (FSHD, n\u200a=\u200a14; HC, n\u200a=\u200a14); VEGF-A (FSHD, n\u200a=\u200a14; HC, n\u200a=\u200a14). Second, we tested trained immunity in monocytes (FSHD, n\u200a=\u200a15; HC, n\u200a=\u200a15) and NK cells (FSHD, n\u200a=\u200a11; HC, n\u200a=\u200a11). Next, we explored the cytokine production capacity of NK cells in response to different stimuli (FSHD, n\u200a=\u200a39; HC, n\u200a=\u200a22). Lastly, we evaluated the cytokine production of ex vivo stimulated MRI guided inflamed (TIRM+) and paired MRI guided non inflamed (TIRM\u2013) muscle biopsies of 21 patients and of 8 HC muscle biopsies.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>We included a total of 190 FSHD patients (N\u200a=\u200a190, 48\u00b114 years, 49% men) and of 135 HC (N\u200a=\u200a135, 44\u00b115 years, 47% men). We found that FSHD patients had higher concentrations of IL-6 and TNF measured (a) in the circulation, (b) after ex-vivo stimulation of NK cells, and (c) in muscle specimens. Besides, IL-6 circulating concentrations, as well as its production by NK cells and IL-6 content of FSHD muscle specimens, showed a mild correlation with disease duration, disease severity, and muscle weakness.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>These results show that IL-6 and TNF may contribute to FSHD pathology and suggest novel therapeutic targets. Additionally, the activation of NK cells in FSHD may be a novel pathway contributing to FSHD pathology.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3233\/jnd-230063","type":"journal-article","created":{"date-parts":[[2024,1,16]],"date-time":"2024-01-16T11:11:57Z","timestamp":1705403517000},"page":"327-347","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":17,"title":["IL-6 and TNF are Potential Inflammatory Biomarkers in Facioscapulohumeral Muscular Dystrophy"],"prefix":"10.1177","volume":"11","author":[{"given":"Anna","family":"Greco","sequence":"first","affiliation":[{"name":"Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands"},{"name":"Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The 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Medical Center, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leon","family":"de Jong","sequence":"additional","affiliation":[{"name":"Department of Radiology, Nuclear Medicine and Anatomy, Radboud University Medical Center, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ritse","family":"Mann","sequence":"additional","affiliation":[{"name":"Department of Radiology, Nuclear Medicine and Anatomy, Radboud University Medical Center, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jurgen","family":"F\u00fctterer","sequence":"additional","affiliation":[{"name":"Department of Radiology, Nuclear Medicine and Anatomy, Radboud University Medical Center, Nijmegen, The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mihai G.","family":"Netea","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Radboud 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