{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T08:04:45Z","timestamp":1777881885763,"version":"3.51.4"},"reference-count":36,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2020,1,1]],"date-time":"2020-01-01T00:00:00Z","timestamp":1577836800000},"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":["Clin Med\ufffdInsights\ufffdPathol"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:sec>\n                    <jats:title>Introduction:<\/jats:title>\n                    <jats:p>Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant genetic disorders. Some clinical manifestations are present at birth, while some develop during childhood, and others can occur at any age. Given the early age at which patients develop clinical features, diagnosis is often made during childhood. The most prevalent features of NF1 are caf\u00e9 au lait spots, dermal and plexiform neurofibromas, and learning disability. A variety of skeletal problems may be seen in NF1, including scoliosis, short stature, and pseudoarthrosis. Reduced skeletal bone mass has been documented to be a common phenomenon in children and adults with NF1. Decreased serum 25-hydroxyvitamin D (vitamin D) levels have been noted in adults and children with NF1 and have been reported to be inversely correlated with the number of dermal neurofibromas in adults. However, the actual correlation of vitamin D level to bone density and dermal neurofibroma number in children with NF1 remains unclear.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives:<\/jats:title>\n                    <jats:p>The primary objective of this study was to evaluate vitamin D levels among children and adolescents with NF1. The secondary objective was to describe the levels of vitamin D among children and adolescents with NF1, to verify in which age group there is a higher frequency of vitamin D alterations, and to explore vitamin D level correlations between age, gender, sun exposure, number of neurofibromas, and number of plexiform neurofibromas.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>This was an observational, cross-sectional, hospital-based study. We obtained a convenience sample of individuals with confirmed diagnosis of NF1 from patients attending the Medical Genetics Service of the IPPMG-UFRJ and Santa Casa de Miseric\u00f3rdia of Rio de Janeiro over a 24-month period. We evaluated vitamin D levels in blood samples of patients with NF1 by a chemiluminescent immunoassay method, and we correlated the results with gender, age, number of neurofibromas, number of plexiform neurofibromas, and satisfactory sun exposure.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>Of the 55 patients, 28 (50.9%) were female and 27 (49.1%) were male. Patient ages ranged from a minimum of 1.2 to a maximum of 19.6\u2009years (mean age 10.95\u2009years) and the median was 11.11\u2009years. Median and mean body mass index (BMI; z score) were -0.09 (minimum value -1.63 and maximum of 4.62) and 0.16, respectively. The mean value of vitamin D was 30.82\u2009ng\/mL (\u00b112.31) and the median was 29\u2009ng\/mL (minimum value of 10.40\u2009ng\/mL and maximum of 79.19\u2009ng\/mL).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>The levels of vitamin D did not differ according to gender, age group, or the presence or number of cutaneous neurofibromas. Among patients with adequate sun exposure, there was a higher incidence of sufficient serum vitamin D levels. Patients with cutaneous neurofibromas in the 0 to 11 age group had a greater tendency to vitamin D sufficiency in relation to patients aged 11 to 19\u2009years.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/2632010x20928930","type":"journal-article","created":{"date-parts":[[2020,10,19]],"date-time":"2020-10-19T22:14:04Z","timestamp":1603145644000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Determination of Vitamin D Levels in Patients With Neurofibromatosis Type 1 in the Pediatric Age Group"],"prefix":"10.1177","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6393-0526","authenticated-orcid":false,"given":"Alessandra","family":"Santos","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5108-5054","authenticated-orcid":false,"given":"Mauro","family":"Geller","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil"},{"name":"Department of Microbiology and Immunology, Centro Universit\u00e1rio Serra dos \u00d3rg\u00e3os (UNIFESO), Teres\u00f3polis, Brazil"},{"name":"Department of Climical Immunology, Instituto de P\u00f3s-Gradua\u00e7\u00e3o M\u00e9dica Carlos Chagas, Rio de Janeiro, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Spyros","family":"Mezitis","sequence":"additional","affiliation":[{"name":"Department of Endocrinology, New York-Presbyterian Hospital\/Weill-Cornell Medical Center, New York, NY, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Allan E","family":"Rubenstein","sequence":"additional","affiliation":[{"name":"Department of Neurology, New York University Langone Medical Center, New York, NY, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil"},{"name":"Department of Microbiology and Immunology, Centro Universit\u00e1rio Serra dos \u00d3rg\u00e3os (UNIFESO), Teres\u00f3polis, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel JM","family":"Medeiros Lima","sequence":"additional","affiliation":[{"name":"Faculdade de Medicina de Campos (FMC), Department of Pharmacology and Physiology, Campos dos Goytacazes, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mendel","family":"Suchmacher Neto","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil"},{"name":"Department of Medical Genetics, Santa Casa de Miseric\u00f3rdia do Rio de Janeiro, Rio de Janeiro, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rafael","family":"Nigri","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karin Gon\u00e7alves Soares","family":"Cunha","sequence":"additional","affiliation":[{"name":"Department of Pathology, Universidade Federal Fluminense (UFF), Rio de Janeiro, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sanyu","family":"Takirambudde","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, New York University Langone Medical Center, New York, NY, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcia","family":"Gon\u00e7alves Ribeiro","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2020,10,19]]},"reference":[{"key":"bibr1-2632010X20928930","doi-asserted-by":"publisher","DOI":"10.1055\/s-0036-1579766"},{"key":"bibr2-2632010X20928930","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1997.03550010065042"},{"key":"bibr3-2632010X20928930","doi-asserted-by":"publisher","DOI":"10.1172\/JCI7610"},{"key":"bibr4-2632010X20928930","doi-asserted-by":"publisher","DOI":"10.1136\/jcp.56.10.758"},{"key":"bibr5-2632010X20928930","unstructured":"Geller M, Bonalumi FA. 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