{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,15]],"date-time":"2026-05-15T03:23:29Z","timestamp":1778815409706,"version":"3.51.4"},"reference-count":32,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2025,5,9]],"date-time":"2025-05-09T00:00:00Z","timestamp":1746748800000},"content-version":"vor","delay-in-days":8,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2025,5,1]],"date-time":"2025-05-01T00:00:00Z","timestamp":1746057600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"publisher","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":[[2025,5]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To evaluate the relationship between ciliary ultrastructure\/genotype and prevalence of neonatal respiratory distress (NRD) in primary ciliary dyskinesia (PCD).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Study Design<\/jats:title>\n                    <jats:p>\n                      This was a retrospective analysis from a multicenter, prospective study of children and adults with PCD. Participants were classified by ultrastructural defect associated with their diagnostic genetic variants: 1) outer dynein arm defect alone (ODA), 2) outer plus inner dynein arm defect (ODA\/IDA), 3) inner dynein arm defect with microtubular disorganization (IDA\/MTD), 4)\n                      <jats:italic>DNAH11<\/jats:italic>\n                      (encodes ODA protein but has normal ultrastructure), and 5) normal\/near\u2010normal\/other. The likelihood of NRD between ultrastructure groups or genotypes was evaluated by multivariate analysis using logistic regression, controlled for age, gender, race, and variant type. Similar analysis was performed within individual genotypes to assess association of NRD with the presence of 2 loss\u2010of\u2010function variants.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Of the 455 participants analyzed, 305 (67.0%) reported NRD. The odds ratio for NRD in the\n                      <jats:italic>DNAH11<\/jats:italic>\n                      group was significantly lower (OR: 0.35, 95% CI: 0.16\u20130.76) compared to NRD in the ODA group. Within the\n                      <jats:italic>DNAH5<\/jats:italic>\n                      group, those with two loss\u2010of\u2010function variants were more likely to have NRD compared to those with possible residual function variants (OR: 3.06, 95% CI: 1.33\u20137).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      NRD is less common in those with\n                      <jats:italic>DNAH11<\/jats:italic>\n                      variants, thus a high index of suspicion should remain for PCD in the absence of NRD. Variant type (loss\u2010of\u2010function vs. residual function) may explain phenotypic variability within individual PCD genes.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ppul.71091","type":"journal-article","created":{"date-parts":[[2025,5,9]],"date-time":"2025-05-09T08:33:43Z","timestamp":1746779623000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["The Association of Neonatal Respiratory Distress With Ciliary Ultrastructure and Genotype in Primary Ciliary Dyskinesia"],"prefix":"10.1002","volume":"60","author":[{"given":"Andrew T.","family":"Barber","sequence":"first","affiliation":[{"name":"Department of Pediatrics Virginia Commonwealth University Richmond Virginia USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephanie D.","family":"Davis","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of North Carolina at Chapel 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Hospital Colorado University of Colorado School of Medicine Aurora Colorado USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sharon D.","family":"Dell","sequence":"additional","affiliation":[{"name":"Department of Pediatrics BC Children's Hospital Vancouver British Columbia Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenneth","family":"Olivier","sequence":"additional","affiliation":[{"name":"Department of Medicine University of North Carolina at Chapel Hill Chapel Hill North Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos","family":"Milla","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Stanford University Palo Alto California USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margaret","family":"Rosenfeld","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of Washington School of Medicine Seattle Washington 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Medicine Chapel Hill North Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maimoona A.","family":"Zariwala","sequence":"additional","affiliation":[{"name":"Department of Pathology\/Lab Medicine and Marsico Lung Institute University of North Carolina School of Medicine Chapel Hill North Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael R.","family":"Knowles","sequence":"additional","affiliation":[{"name":"Department of Medicine and Marsico Lung Institute University of North Carolina School of Medicine Chapel Hill North Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margaret W.","family":"Leigh","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Marsico Lung Institute University of North Carolina School of Medicine Chapel Hill North Carolina USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"the Genetic Disorders of Mucociliary Clearance Consortium 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