{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T20:40:00Z","timestamp":1786653600970,"version":"build-2736575974"},"reference-count":31,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","license":[{"start":{"date-parts":[[2021,12,1]],"date-time":"2021-12-01T00:00:00Z","timestamp":1638316800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,3,9]],"date-time":"2021-03-09T00:00:00Z","timestamp":1615248000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:sec>\n                    <jats:title>Background:<\/jats:title>\n                    <jats:p>Primary ciliary dyskinesia (PCD) is a ciliopathy with diverse clinical and genetic findings caused by abnormal motile cilia structure and function. In this study, we describe the clinical characteristics of confirmed PCD cases in our population and report the radiological, genetic, and laboratory findings.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>This was a retrospective, observational, single-centre study. We enrolled 18 patients who were diagnosed with confirmed PCD between 2015 and 2019. We then analyzed their data, including clinical findings and workup.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      In our cohort, 56% of patients had molecularly confirmed PCD, and RSPH9 was the most common gene identified. Transmission electron microscopy (TEM) showed an ultrastructural defect in 64% of samples, all of which matched the genetic background of the patient. Situs inversus (SI) was observed in 50% of patients, and congenital heart disease was observed in 33%. The median body mass index (BMI) was 15.87 kg\/m\n                      <jats:sup>2<\/jats:sup>\n                      , with a median z score of -1.48. The median FEV1 value was 67.6% (z score - 2.43). Radiologically, bronchiectasis was noted in 81% of patients at a variable degree of severity. Lung bases were involved in 91% of patients. We were unable to correlate the genotype-phenotype findings.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>We describe the clinical and molecular characteristics of patients with confirmed PCD in a tertiary centre in Saudi Arabia and report 9 new pathogenic or likely pathogenic variants in one of the PCD-associated genes.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1016\/j.ijpam.2021.03.002","type":"journal-article","created":{"date-parts":[[2021,3,12]],"date-time":"2021-03-12T06:43:18Z","timestamp":1615531398000},"page":"258-263","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":12,"title":["Clinical and molecular characteristics of primary ciliary dyskinesia"],"prefix":"10.4103","volume":"8","author":[{"given":"Mohammed","family":"Alzaid","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khalid","family":"Al-Mobaireek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed","family":"Almannai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gawahir","family":"Mukhtar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Safa","family":"Eltahir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adnan","family":"Zafar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdulali P.","family":"Zada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wadha","family":"Alotaibi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-9-20240903","doi-asserted-by":"crossref","first-page":"1136","DOI":"10.1136\/adc.2006.096958","article-title":"Primary ciliary dyskinesia: current state of the art","volume":"92","author":"Bush","year":"2007","journal-title":"Arch Dis Child"},{"key":"R2-9-20240903","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1136\/adc.2009.158493","article-title":"High prevalence of primary ciliary dyskinesia in a British Asian population","volume":"95","author":"O'Callaghan","year":"2010","journal-title":"Arch Dis Child"},{"key":"R3-9-20240903","first-page":"18","article-title":"Genetics and biology of primary ciliary dyskinesia","volume":"18","author":"Horani","year":"2016","journal-title":"Paediatr Respir Rev"},{"key":"R4-9-20240903","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1038\/pr.2016.263","article-title":"Prevalence of primary ciliary dyskinesia in consecutive referrals of suspect cases and the transmission electron microscopy detection rate: a systematic review and meta-analysis","volume":"81","author":"Kouis","year":"2017","journal-title":"Pediatr Res"},{"key":"R5-9-20240903","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1080\/07853890510011985","article-title":"Primary ciliary dyskinesia: clinical presentation, diagnosis and genetics","volume":"37","author":"Storm","year":"2005","journal-title":"Ann Med"},{"key":"R6-9-20240903","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1164\/rccm.200303-365OC","article-title":"Primary ciliary dyskinesia: diagnostic and phenotypic features","volume":"169","author":"Noone","year":"2004","journal-title":"Am J Respir Crit Care Med"},{"key":"R9-9-20240903","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1080\/01913123.2017.1362088","article-title":"Value of transmission electron microscopy for primary ciliary dyskinesia diagnosis in the era of molecular medicine: genetic defects with normal and non-diagnostic ciliary ultrastructure","volume":"41","author":"Shapiro","year":"2017","journal-title":"Ultrastruct Pathol"},{"key":"R11-9-20240903","doi-asserted-by":"crossref","first-page":"e24","DOI":"10.1164\/rccm.201805-0819ST","article-title":"Diagnosis of primary ciliary dyskinesia. 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