{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,8]],"date-time":"2025-10-08T22:19:41Z","timestamp":1759961981899},"reference-count":12,"publisher":"Journal of Neurosurgery Publishing Group (JNSPG)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["PED"],"published-print":{"date-parts":[[2015,2]]},"abstract":"<jats:p>Schimke immuno-osseous dysplasia (SIOD) is a rare autosomal recessive disorder characterized by spondyloepiphyseal dysplasia, episodic lymphopenia, renal failure, and cerebrovascular disease secondary to arteriosclerosis and myointimal hyperplasia. In this paper the authors report the first known application of internal carotid artery (ICA) surgical revascularization to relieve a high-grade focal stenosis of the ICA in a pediatric patient, a 6-year-old boy with SIOD. The clinical presentation, imaging features, operative technique, and postoperative course are described and the molecular genetics, pathophysiology, and treatment considerations in SIOD are discussed.<\/jats:p>","DOI":"10.3171\/2014.10.peds14141","type":"journal-article","created":{"date-parts":[[2014,11,28]],"date-time":"2014-11-28T18:58:42Z","timestamp":1417201122000},"page":"189-191","source":"Crossref","is-referenced-by-count":3,"title":["Internal carotid artery surgical revascularization in a pediatric patient with Schimke immuno-osseous dysplasia"],"prefix":"10.3171","volume":"15","author":[{"given":"Erick M.","family":"Westbroek","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nitin","family":"Mukerji","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul","family":"Kalanithi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gary K.","family":"Steinberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1754","reference":[{"key":"b1-peds14141","series-title":"Nucleus","first-page":"245","article-title":"SMARCAL1 and replication stress: an explanation for SIOD?","volume":"1","author":"Bansbach","year":"2010"},{"key":"b2-peds14141","series-title":"Am J Med Genet","doi-asserted-by":"publisher","first-page":"118","DOI":"10.1002\/(SICI)1096-8628(19980630)78:2<118::AID-AJMG4>3.0.CO;2-K","article-title":"Schimke immunoosseous dysplasia complicated by moyamoya phenomenon","volume":"78","author":"Boerkoel","year":"1998"},{"key":"b3-peds14141","series-title":"Eur J Pediatr","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/s004310050001","article-title":"Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature","volume":"159","author":"Boerkoel","year":"2000"},{"key":"b4-peds14141","series-title":"Nat Genet","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1038\/ng821","article-title":"Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia","volume":"30","author":"Boerkoel","year":"2002"},{"key":"b5-peds14141","series-title":"J Med Genet","first-page":"122","article-title":"Schimke immuno-osseous dysplasia: a clinicopathological correlation","volume":"44","author":"Clewing","year":"2007"},{"key":"b6-peds14141","series-title":"Clin Nephrol","first-page":"89","article-title":"Steroid resistant nephrotic syndrome associated with spondyloepiphyseal dysplasia, transient ischemic attacks and lymphopenia","volume":"43","author":"Ehrich","year":"1995"},{"key":"b7-peds14141","series-title":"Pediatr Nephrol","doi-asserted-by":"publisher","first-page":"672","DOI":"10.1007\/s00467-004-1426-z","article-title":"Generalized atherosclerosis sparing the transplanted kidney in Schimke disease","volume":"19","author":"L\u00fccke","year":"2004"},{"key":"b8-peds14141","series-title":"Orphanet J Rare Dis","doi-asserted-by":"publisher","first-page":"70","DOI":"10.1186\/1750-1172-7-70","article-title":"Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immunoosseous dysplasia?","volume":"7","author":"Morimoto","year":"2012"},{"key":"b9-peds14141","series-title":"J Biol Chem","doi-asserted-by":"publisher","first-page":"35951","DOI":"10.1074\/jbc.M109.048330","article-title":"Identification of SMARCAL1 as a component of the DNA damage response","volume":"284","author":"Postow","year":"2009"},{"key":"b10-peds14141","series-title":"Science","doi-asserted-by":"publisher","first-page":"748","DOI":"10.1126\/science.1161233","article-title":"HARP is an ATP-driven annealing helicase","volume":"322","author":"Yusufzai","year":"2008"},{"key":"b11-peds14141","series-title":"Genes Dev","doi-asserted-by":"publisher","first-page":"2400","DOI":"10.1101\/gad.1831509","article-title":"The annealing helicase HARP is recruited to DNA repair sites via an interaction with RPA","volume":"23","author":"Yusufzai","year":"2009"},{"key":"b12-peds14141","series-title":"Pediatr Rheumatol Online J","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1186\/1546-0096-9-27","article-title":"Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia","volume":"9","author":"Zieg","year":"2011"}],"container-title":["Journal of Neurosurgery: Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/thejns.org\/view\/journals\/j-neurosurg-pediatr\/15\/2\/article-p189.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/thejns.org\/downloadpdf\/journals\/j-neurosurg-pediatr\/15\/2\/article-p189.xml","content-type":"text\/html","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/thejns.org\/downloadpdf\/journals\/j-neurosurg-pediatr\/15\/2\/article-p189.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,15]],"date-time":"2023-04-15T20:07:06Z","timestamp":1681589226000},"score":1,"resource":{"primary":{"URL":"https:\/\/thejns.org\/view\/journals\/j-neurosurg-pediatr\/15\/2\/article-p189.xml"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,2]]},"references-count":12,"journal-issue":{"issue":"2"},"URL":"https:\/\/doi.org\/10.3171\/2014.10.peds14141","relation":{},"ISSN":["1933-0707","1933-0715"],"issn-type":[{"value":"1933-0707","type":"print"},{"value":"1933-0715","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,2]]}}}