{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T00:53:12Z","timestamp":1785804792566,"version":"3.56.0"},"reference-count":68,"publisher":"The Endocrine Society","issue":"3","license":[{"start":{"date-parts":[[2023,12,7]],"date-time":"2023-12-07T00:00:00Z","timestamp":1701907200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100021856","name":"Ministero dell'Universit\u00e0 e della Ricerca","doi-asserted-by":"publisher","award":["PRIN 2020NCKXBR"],"award-info":[{"award-number":["PRIN 2020NCKXBR"]}],"id":[{"id":"10.13039\/501100021856","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100002924","name":"FEDER","doi-asserted-by":"publisher","award":["PI22\/00514"],"award-info":[{"award-number":["PI22\/00514"]}],"id":[{"id":"10.13039\/501100002924","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010801","name":"Xunta de Galicia","doi-asserted-by":"publisher","award":["ED431B 2020\/37"],"award-info":[{"award-number":["ED431B 2020\/37"]}],"id":[{"id":"10.13039\/501100010801","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","award":["PI15-00255"],"award-info":[{"award-number":["PI15-00255"]}],"id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Spanish Autonomous Region of Madrid"},{"name":"Asociacio\u0301n Espan\u0303ola de Familiares y Afectados de Lipodistrofias"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,2,20]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Barraquer-Simons syndrome (BSS) is a rare, acquired form of lipodystrophy characterized by progressive loss of upper body subcutaneous fat, which affects face, upper limbs, and trunk. The pathogenesis of the disease is not entirely known and may involve autoimmune mechanisms.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Aim<\/jats:title>\n                  <jats:p>This study aimed to provide a comprehensive picture of the clinical, immunological, and metabolic features of a large cohort of patients with BSS. Our primary objectives included the validation of existing diagnostic tools, the evaluation of novel diagnostic approaches, and the exploration of potential disease triggers or genetic predispositions.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Subjects and Methods<\/jats:title>\n                  <jats:p>Twenty-six patients were diagnosed with BSS based on accepted criteria defined by international guidelines. Anthropometric parameters, biochemical tests, organ- and non-organ-specific autoantibodies, HLA status, and screening of the LMNB2 gene were performed.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Patients were predominantly females (73%); fat loss occurred mostly during childhood (77%) at a median age of 8 years. Among various anthropometric measures, the ratio between the proportion of fat mass in upper limbs and lower limbs showed the best predictive value for diagnosis. A total of 11.5% of patients had diabetes, 34.6% dyslipidemia, and 26.9% hepatic steatosis. Seventy-five percent of children and 50% of adults had C3 hypocomplementemia; 76% of patients were positive for 1 or more autoantibodies. HLA-DRB1 11:03 had higher allelic frequencies compared with the general population. A single variant in the LMNB2 gene was found in 1 patient.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion<\/jats:title>\n                  <jats:p>BSS has a childhood onset and is often associated with autoimmune diseases. Skinfold thickness measurements and fat assessment by dual energy X-ray absorptiometry are useful tools to identify the disease. C3 hypocomplementemia and the presence of autoantibodies may be used as additional diagnostic supportive criteria but the prevalence of C3 hypocomplementemia may be lower than previously reported.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1210\/clinem\/dgad700","type":"journal-article","created":{"date-parts":[[2023,12,7]],"date-time":"2023-12-07T22:42:38Z","timestamp":1701988958000},"page":"e932-e944","source":"Crossref","is-referenced-by-count":13,"title":["Clinical Characteristics of Patients With Acquired Partial Lipodystrophy: A Multicenter Retrospective Study"],"prefix":"10.1210","volume":"109","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8705-6554","authenticated-orcid":false,"given":"Silvia","family":"Magno","sequence":"first","affiliation":[{"name":"Obesity and Lipodystrophy Center, Endocrinology Unit, University Hospital of Pisa , Pisa 56124 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Ceccarini","sequence":"additional","affiliation":[{"name":"Obesity and Lipodystrophy Center, Endocrinology Unit, University Hospital of Pisa , Pisa 56124 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando","family":"Corvillo","sequence":"additional","affiliation":[{"name":"Complement Research Group, Hospital La Paz Institute for Health Research (IdiPAZ), La Paz University Hospital , Paseo de la Castellana, Madrid 28046 , Spain"},{"name":"Center for Biomedical Network Research on Rare Diseases (CIBERER) , Madrid 28046 , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caterina","family":"Pelosini","sequence":"additional","affiliation":[{"name":"Obesity and Lipodystrophy Center, Endocrinology Unit, University Hospital of Pisa , Pisa 56124 , Italy"},{"name":"Chemistry and Endocrinology Laboratory, Department of Radiological, Nuclear and Laboratory Medicine, University Hospital of Pisa , Pisa 56124 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donatella","family":"Gilio","sequence":"additional","affiliation":[{"name":"Obesity and Lipodystrophy Center, Endocrinology Unit, University Hospital of Pisa , Pisa 56124 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melania","family":"Paoli","sequence":"additional","affiliation":[{"name":"Chemistry and Endocrinology Laboratory, Department of Radiological, Nuclear and Laboratory Medicine, University Hospital of Pisa , Pisa 56124 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Fornaciari","sequence":"additional","affiliation":[{"name":"Division of Transfusion Medicine and Transplant Biology, Department of Radiological, Nuclear and Laboratory Medicine, University Hospital of Pisa , Pisa 56124 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Pandolfo","sequence":"additional","affiliation":[{"name":"Department of Economics and Statistics, University of Naples Federico II , Naples 80138 , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sofia","family":"Sanchez-Iglesias","sequence":"additional","affiliation":[{"name":"Thyroid and Metabolic Diseases Unit (U.E.T.eM.), Centro Singular de Investigaci\u00f3n en Medicina Molecular e Enfermidades Cr\u00f3nicas (CIMUS-IDIS), School of Medicine, Universidad de Santiago de Compostela , Santiago de Compostela 15700 , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pilar","family":"Nozal","sequence":"additional","affiliation":[{"name":"Immunology Unit, La Paz University Hospital , Madrid 28046 , Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michele","family":"Curcio","sequence":"additional","affiliation":[{"name":"Division of 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