{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T02:14:32Z","timestamp":1740104072392,"version":"3.37.3"},"reference-count":28,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,9,23]],"date-time":"2019-09-23T00:00:00Z","timestamp":1569196800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","award":["UL1TR001082"],"award-info":[{"award-number":["UL1TR001082"]}],"id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","award":["5R01HL12837004","R01HL071798","U54HL096458"],"award-info":[{"award-number":["5R01HL12837004","R01HL071798","U54HL096458"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Pulmonology"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The diagnosis of primary ciliary dyskinesia (PCD) is difficult and requires a combination of clinical features, nasal nitric oxide testing, cilia ultrastructural analysis by electron microscopy (EM), and genetics. A recently described cytoplasmic ultrastructural change termed \u201cciliary inclusions\u201d was reported to be diagnostic of PCD; however, no supporting evidence of PCD was provided. In this study, we sought to confirm, or refute, the diagnosis of PCD in subjects with \u201cciliary inclusions\u201d on EM.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Six subjects from five families with previous lab reports of \u201cciliary inclusions\u201d on EMs of ciliated cells were identified and evaluated at a Genetic Disorders of Mucociliary Clearance Consortium site. We performed a detailed clinical history, nasal nitric oxide measurement, genetic testing including whole\u2010exome sequencing (WES), and when possible, repeat ciliary EM study.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Only one of six subjects had multiple and persistent clinical features congruent with PCD. No subject had situs inversus. Only one of six subjects had a very low nasal nitric oxide level. No \u201cciliary inclusions\u201d were found in three subjects who had a repeat ciliary EM, and ciliary axonemal ultrastructures were normal. Genetic testing, including WES, was negative for PCD\u2010causing genes, and for pathogenic variants in gene pathways that might cause \u201cciliary inclusions,\u201d such as ciliary biogenesis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>\u201cCiliary Inclusions\u201d, in isolation, are not sufficient to diagnosis PCD. If seen, additional studies should be done to pursue an accurate diagnosis.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ppul.24528","type":"journal-article","created":{"date-parts":[[2019,9,24]],"date-time":"2019-09-24T05:59:38Z","timestamp":1569304778000},"page":"130-135","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Cytoplasmic \u201cciliary inclusions\u201d in isolation are not sufficient for the diagnosis of primary ciliary dyskinesia"],"prefix":"10.1002","volume":"55","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0645-8923","authenticated-orcid":false,"given":"Timothy J.","family":"Vece","sequence":"first","affiliation":[{"name":"Department of Pediatrics University of North Carolina Chapel Hill North Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Scott D.","family":"Sagel","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Children's Hospital Colorado University of Colorado School of Medicine Aurora Colorado"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maimoona A.","family":"Zariwala","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Marsico Lung Institute University of North Carolina School of Medicine Chapel Hill North Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kelli M.","family":"Sullivan","sequence":"additional","affiliation":[{"name":"Department of Medicine, Marsico Lung Institute University of North Carolina Chapel Hill North Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kimberlie A.","family":"Burns","sequence":"additional","affiliation":[{"name":"Marsico Lung Institute University of North Carolina Chapel Hill North Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan K.","family":"Dutcher","sequence":"additional","affiliation":[{"name":"Department of Genetics, McDonnell Genome Institute Washington University School of Medicine St Louis Missouri"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roman","family":"Yusupov","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics Joe DiMaggio Children's Hospital Hollywood Florida"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margaret W.","family":"Leigh","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of North Carolina Chapel Hill North Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael R.","family":"Knowles","sequence":"additional","affiliation":[{"name":"Department of Medicine, Marsico Lung Institute University of North Carolina Chapel Hill North Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,9,23]]},"reference":[{"key":"e_1_2_6_1_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02141468"},{"key":"e_1_2_6_1_3_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1084576"},{"key":"e_1_2_6_1_4_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197707072970101"},{"key":"e_1_2_6_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(81)90811-4"},{"key":"e_1_2_6_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/thoraxjnl-2011-200301"},{"key":"e_1_2_6_1_7_1","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.00108410"},{"key":"e_1_2_6_1_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/pr.2016.263"},{"key":"e_1_2_6_1_9_1","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.01.00093001"},{"key":"e_1_2_6_1_10_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-physiol-021014-071931"},{"key":"e_1_2_6_1_11_1","doi-asserted-by":"publisher","DOI":"10.1164\/ajrccm.153.3.8630555"},{"key":"e_1_2_6_1_12_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200303-365OC"},{"key":"e_1_2_6_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2010.05.046"},{"key":"e_1_2_6_1_14_1","doi-asserted-by":"publisher","DOI":"10.1378\/chest.11-3253"},{"key":"e_1_2_6_1_15_1","doi-asserted-by":"publisher","DOI":"10.1378\/chest.10-0175"},{"key":"e_1_2_6_1_16_1","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.00153308"},{"key":"e_1_2_6_1_17_1","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201805-0819ST"},{"key":"e_1_2_6_1_18_1","doi-asserted-by":"publisher","DOI":"10.2350\/14-06-1504-OA.1"},{"key":"e_1_2_6_1_19_1","doi-asserted-by":"publisher","DOI":"10.1513\/AnnalsATS.201305-110OC"},{"key":"e_1_2_6_1_20_1","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/S0065-3101(24)00175-0","article-title":"Ciliary defects: cell biology and clinical perspectives","volume":"35","author":"Carson JL","year":"1988","journal-title":"Adv Pediatr"},{"key":"e_1_2_6_1_21_1","doi-asserted-by":"publisher","DOI":"10.3109\/01913129409023201"},{"key":"e_1_2_6_1_22_1","doi-asserted-by":"publisher","DOI":"10.1080\/01913120050132903"},{"key":"e_1_2_6_1_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.12.009"},{"key":"e_1_2_6_1_24_1","doi-asserted-by":"publisher","DOI":"10.1513\/AnnalsATS.201511-748OC"},{"key":"e_1_2_6_1_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2961"},{"key":"e_1_2_6_1_26_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms5418"},{"key":"e_1_2_6_1_27_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.8.575"},{"key":"e_1_2_6_1_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.23304"},{"key":"e_1_2_6_1_29_1","doi-asserted-by":"publisher","DOI":"10.1080\/01913123.2017.1365990"}],"container-title":["Pediatric Pulmonology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ppul.24528","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ppul.24528","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ppul.24528","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,23]],"date-time":"2024-07-23T22:22:08Z","timestamp":1721773328000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ppul.24528"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,9,23]]},"references-count":28,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,1]]}},"alternative-id":["10.1002\/ppul.24528"],"URL":"https:\/\/doi.org\/10.1002\/ppul.24528","archive":["Portico"],"relation":{},"ISSN":["8755-6863","1099-0496"],"issn-type":[{"type":"print","value":"8755-6863"},{"type":"electronic","value":"1099-0496"}],"subject":[],"published":{"date-parts":[[2019,9,23]]},"assertion":[{"value":"2019-05-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-09-01","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-09-23","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}