{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,13]],"date-time":"2026-04-13T13:37:43Z","timestamp":1776087463437,"version":"3.50.1"},"reference-count":10,"publisher":"PAGEPress Publications","license":[{"start":{"date-parts":[[2024,12,19]],"date-time":"2024-12-19T00:00:00Z","timestamp":1734566400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Transl Myol"],"abstract":"<jats:p>Scoliosis is a three-dimensional spinal deformity characterized by a lateral deviation of at least 10\u00b0 Cobb, categorized into idiopathic and non-idiopathic forms, caused by identifiable factors like congenital abnormalities, neuromuscular conditions, or genetic syndromes.\r\nThis case report discusses a 15-year-old girl with growth delay and growth hormone (GH) deficiency who experienced rapid scoliosis progression. Initial evaluations were normal, and electroencephalography (EEG) showed nonspecific alterations, but further assessment revealed a MYH3 gene variant associated with scoliosis, short stature, and distinct facial features. Treatment with a Lyon ARTbrace and tailored exercises stopped curve progression. This case highlights the need for thorough evaluations in atypical AIS cases to uncover potential causes.\r\n\u00a0<\/jats:p>","DOI":"10.4081\/ejtm.2024.13249","type":"journal-article","created":{"date-parts":[[2024,12,19]],"date-time":"2024-12-19T11:03:25Z","timestamp":1734606205000},"source":"Crossref","is-referenced-by-count":3,"title":["A neurophysiological and genetic assessment of a case of rapidly progressive scoliosis"],"prefix":"10.4081","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2793-1334","authenticated-orcid":false,"given":"Maria Chiara","family":"Maccarone","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3268-0309","authenticated-orcid":false,"given":"Matilde","family":"Paramento","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7653-9377","authenticated-orcid":false,"given":"Edoardo","family":"Passarotto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8645-6783","authenticated-orcid":false,"given":"Paola","family":"Contessa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0744-3109","authenticated-orcid":false,"given":"Maria","family":"Rubega","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3417-0388","authenticated-orcid":false,"given":"Emanuela","family":"Formaggio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefano","family":"Masiero","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"2549","published-online":{"date-parts":[[2024,12,19]]},"reference":[{"key":"157873","doi-asserted-by":"crossref","unstructured":"Negrini S, Donzelli S, Aulisa AG, et al. 2016 SOSORT guidelines: orthopaedic and rehabilitation treatment of idiopathic scoliosis during growth. Scoliosis Spinal Disord 2018;13:3.","DOI":"10.1186\/s13013-017-0145-8"},{"key":"157874","unstructured":"Burnei G, Gavriliu S, Vlad C, et al. Congenital scoliosis: an up-to-date. J Med Life 2015;8:388-97."},{"key":"157875","doi-asserted-by":"crossref","unstructured":"de Mauroy JC, Journe A, Gagaliano F, et al. The new Lyon ARTbrace versus the historical Lyon brace: a prospective case series of 148 consecutive scoliosis with short time results after 1 year compared with a historical retrospective case series of 100 consecutive scoliosis; SOSORT award 2015 winner. Scoliosis 2015;10:26.","DOI":"10.1186\/s13013-015-0047-6"},{"key":"157876","doi-asserted-by":"crossref","unstructured":"DiMeglio A, Canavese F, Charles YP. Growth and adolescent idiopathic scoliosis: when and how much? J Pediatr Orthop 2011;31:S28-36. Erratum in: J Pediatr Orthop 2011;31:221.","DOI":"10.1097\/BPO.0b013e318202c25d"},{"key":"157877","doi-asserted-by":"crossref","unstructured":"Park M, Kim YJ, Oh KE, et al. The association between idiopathic scoliosis and growth hormone treatment in short children. Ann Pediatr Endocrinol Metab 2022;27:207-13.","DOI":"10.6065\/apem.2142186.093"},{"key":"157878","doi-asserted-by":"crossref","unstructured":"Formaggio E, Bertuccelli M, Rubega M, et al. Brain oscillatory activity in adolescent idiopathic scoliosis. Sci Rep 2022;12:17266.","DOI":"10.1038\/s41598-022-19449-1"},{"key":"157879","doi-asserted-by":"crossref","unstructured":"Paramento M, Passarotto E, Maccarone MC, et al. Neurophysiological, balance and motion evidence in adolescent idiopathic scoliosis: A systematic review. PLoS One 2024;19:e0303086.","DOI":"10.1371\/journal.pone.0303086"},{"key":"157880","doi-asserted-by":"crossref","unstructured":"Yang Y, Zhang W, Wang H. Identification of two novel MYH3 variants causing different phenotypes in prenatal diagnosis. Prenat Diagn 2023;43:1467-71.","DOI":"10.1002\/pd.6440"},{"key":"157881","doi-asserted-by":"crossref","unstructured":"Zhao S, Zhang Y, Hallgrimsdottir S, et al. Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders. NPJ Genom Med 2022;7:11.","DOI":"10.1038\/s41525-021-00273-x"},{"key":"157882","doi-asserted-by":"crossref","unstructured":"Maccarone MC, Barzizza E, Contessa P, et al. Lessons from the pandemic era: do we need new strategies to improve conservative treatment adherence in adolescent idiopathic scoliosis? A retrospective analysis. Eur J Transl Myol 2024;34:12859.","DOI":"10.4081\/ejtm.2024.12859"}],"container-title":["European Journal of Translational Myology"],"original-title":[],"link":[{"URL":"https:\/\/www.pagepressjournals.org\/bam\/article\/download\/13249\/12671","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.pagepressjournals.org\/bam\/article\/download\/13249\/12671","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,12,19]],"date-time":"2024-12-19T11:03:39Z","timestamp":1734606219000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.pagepressjournals.org\/bam\/article\/view\/13249"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,19]]},"references-count":10,"URL":"https:\/\/doi.org\/10.4081\/ejtm.2024.13249","relation":{},"ISSN":["2037-7460","2037-7452"],"issn-type":[{"value":"2037-7460","type":"electronic"},{"value":"2037-7452","type":"print"}],"subject":[],"published":{"date-parts":[[2024,12,19]]}}}