{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:48:38Z","timestamp":1787028518525,"version":"build-2736575974"},"reference-count":50,"publisher":"MDPI AG","issue":"17","license":[{"start":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T00:00:00Z","timestamp":1692748800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"FAPESP","award":["FJAP 2018\/18071-5"],"award-info":[{"award-number":["FJAP 2018\/18071-5"]}]},{"name":"FAPESP","award":["IMA 2021\/03152-2"],"award-info":[{"award-number":["IMA 2021\/03152-2"]}]},{"name":"FAPESP","award":["FJAP 309316\/2021-9"],"award-info":[{"award-number":["FJAP 309316\/2021-9"]}]},{"DOI":"10.13039\/501100003593","name":"National Council of Scientific and Technological Development (CNPq)","doi-asserted-by":"publisher","award":["FJAP 2018\/18071-5"],"award-info":[{"award-number":["FJAP 2018\/18071-5"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"National Council of Scientific and Technological Development (CNPq)","doi-asserted-by":"publisher","award":["IMA 2021\/03152-2"],"award-info":[{"award-number":["IMA 2021\/03152-2"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"National Council of Scientific and Technological Development (CNPq)","doi-asserted-by":"publisher","award":["FJAP 309316\/2021-9"],"award-info":[{"award-number":["FJAP 309316\/2021-9"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>Familial partial lipodystrophies (FPLD) are rare diseases characterized by selective loss of subcutaneous adipose tissue at different sites. This cross-sectional observational study aimed to estimate adipose tissue in the bone marrow (BMAT), intra (IMCL) and extra-myocyte lipids (EMCL), and define the bone phenotype in the context of FPLD2\/Dunnigan syndrome (DS). The subjects comprised 23 controls (C) and 18 DS patients, matched by age, weight and height. Blood samples, dual-energy X-ray absorptiometry for bone mineral density (BMD) and trabecular bone score (TBS) and 1H-spectroscopy using magnetic resonance to estimate BMAT in the lumbar spine, IMCL, EMCL and osteoclastogenesis were assessed. The prevalence of diabetes mellitus was 78% in DS patients. Glucose, HbA1c, triglycerides, insulin and HOMA-IR levels were elevated in DS, whereas HDLc, 25(OH)D, PTH and osteocalcin levels were reduced. BMD was similar between groups at all sites, except 1\/3 radius, which was lower in DS group. TBS was reduced in DS. DS presented increased osteoclastogenesis and elevated BMAT, with greater saturation levels and higher IMCL than the C group. HOMA-IR and EMCL were negatively associated with TBS; osteocalcin and EMCL were correlated negatively with BMD. This study contributes to refining the estimation of adipose tissue in DS by showing increased adiposity in the lumbar spine and muscle tissue. DXA detected lower TBS and BMD in the 1\/3 radius, suggesting impairment in bone quality and that bone mass is mainly affected in the cortical bone.<\/jats:p>","DOI":"10.3390\/ijms241713118","type":"journal-article","created":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T08:01:21Z","timestamp":1692777681000},"page":"13118","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Refining Evaluation of Bone Mass and Adipose Distribution in Dunnigan Syndrome"],"prefix":"10.3390","volume":"24","author":[{"given":"Mariana Lima Mascarenhas","family":"Moreira","sequence":"first","affiliation":[{"name":"Department of Internal Medicine, Ribeir\u00e3o Preto Medical School, University of Sao Paulo, Ribeirao Preto 14049-900, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0903-4787","authenticated-orcid":false,"given":"Iana Mizumukai","family":"de Ara\u00fajo","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Ribeir\u00e3o Preto Medical School, University of Sao Paulo, Ribeirao Preto 14049-900, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra Yasuyo","family":"Fukada","sequence":"additional","affiliation":[{"name":"Department of Biomolecular Sciences, School of Pharmaceutical Sciences of Ribeirao Preto, University of Sao Paulo, Ribeirao Preto 14040-900, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7585-7709","authenticated-orcid":false,"given":"Lucas Gabriel R.","family":"Venturini","sequence":"additional","affiliation":[{"name":"Department of Biomolecular Sciences, School of Pharmaceutical Sciences of Ribeirao Preto, University of Sao Paulo, Ribeirao Preto 14040-900, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2438-3141","authenticated-orcid":false,"given":"Natalia Rossin","family":"Guidorizzi","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Ribeir\u00e3o Preto Medical School, University of Sao Paulo, Ribeirao Preto 14049-900, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1441-1524","authenticated-orcid":false,"given":"Carlos Ernesto","family":"Garrido","sequence":"additional","affiliation":[{"name":"Department of Physics, Faculty of Philosophy, Sciences and Letters of Ribeirao Preto, University of Sao Paulo, Ribeirao Preto 14049-900, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clifford J.","family":"Rosen","sequence":"additional","affiliation":[{"name":"Maine Health Institute for Research, Scarborough, ME 04074, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1262-3486","authenticated-orcid":false,"given":"Francisco Jos\u00e9 Albuquerque","family":"de Paula","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine, Ribeir\u00e3o Preto Medical School, University of Sao Paulo, Ribeirao Preto 14049-900, SP, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,8,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"266","DOI":"10.1038\/s41467-022-35704-5","article-title":"BMI-Adjusted Adipose Tissue Volumes Exhibit Depot-Specific and Divergent Associations with Cardiometabolic Diseases","volume":"14","author":"Agrawal","year":"2023","journal-title":"Nat. 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