{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T20:03:19Z","timestamp":1787169799565,"version":"build-2736575974"},"reference-count":9,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,4]]},"abstract":"<jats:sec>\n                    <jats:title\/>\n                    <jats:p>\n                      A female-term neonate showed a severe respiratory distress syndrome (RDS) at hour 3 of life requiring her transfer to intensive care. She was intubated and started on assist-control mechanical ventilation associated with inhaled nitric oxide then high-frequency oscillation ventilation at day 12. Chest X-ray was gradually deteriorating. Chest computed tomography (CT) scan revealed diffuse interstitial lung disease. Flexible bronchoscopy excluded pulmonary alveolar proteinosis. The genetics study confirmed surfactant protein-B (SP-B) deficiency caused by the novel homozygous c.770T&gt;C, p.Leu257Pro mutation in the\n                      <jats:italic toggle=\"yes\">SFTPB<\/jats:italic>\n                      gene (NM_000542.5). Methylprednisolone pulse therapy was administered from day 20. As the infant worsened, azithromycin, sildenafil, and inhaled steroids were added at the age of 6 months and azathioprine at the age of 10 months. At the age of 12 months, chest CT showed diffuse \u201ccrazy-paving.\u201d The infant died of respiratory failure at the age of 13 months. Unexplained neonatal RDS should raise the suspicion of SP-B disease. This novel mutation could be part of the mutations allowing partial SP-B production result in prolonged survival. Lung transplant in infants, unavailable in numerous countries, remains the unique way to reverse the fatal outcome.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/atm.atm_445_21","type":"journal-article","created":{"date-parts":[[2022,4,19]],"date-time":"2022-04-19T01:49:35Z","timestamp":1650332975000},"page":"132-135","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":7,"title":["Difficulties in the treatment of an infant survivor with inherited surfactant protein-B deficiency in Tunisia"],"prefix":"10.4103","volume":"17","author":[{"given":"Samia","family":"Hamouda","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ines","family":"Trabelsi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alix de","family":"Becdeli\u00e8vre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khadija","family":"Boussetta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-9-20240830","doi-asserted-by":"crossref","first-page":"17","DOI":"10.2174\/1573396315666190723112916","article-title":"Persistent respiratory distress in the term neonate: Genetic surfactant deficiency diseases","volume":"16","author":"Magnani","year":"2020","journal-title":"Curr Pediatr Rev"},{"key":"R2-9-20240830","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1038\/msb.2011.75","article-title":"Fast, scalable generation of high-quality protein multiple sequence alignments using Clustal Omega","volume":"7","author":"Sievers","year":"2011","journal-title":"Mol Syst Biol"},{"key":"R3-9-20240830","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1056\/NEJM199302113280606","article-title":"Brief report: Deficiency of pulmonary surfactant protein B in congenital alveolar proteinosis","volume":"328","author":"Nogee","year":"1993","journal-title":"N Engl J Med"},{"key":"R4-9-20240830","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1016\/j.jpeds.2017.07.009","article-title":"Delayed presentation and prolonged survival of a child with surfactant protein B deficiency","volume":"190","author":"L\u00f3pez-Andreu","year":"2017","journal-title":"J Pediatr"},{"key":"R5-9-20240830","first-page":"e53","article-title":"Surfactant protein B deficiency caused by homozygous C248X mutation \u2013 A case report and review of the literature","volume":"5","author":"Kurath-Koller","year":"2015","journal-title":"AJP Rep"},{"key":"R6-9-20240830","doi-asserted-by":"crossref","first-page":"18","DOI":"10.25259\/JPATS_33_2020","article-title":"Pediatric interstitial lung disease","volume":"2","author":"Bush","year":"2021","journal-title":"JPATS"},{"key":"R7-9-20240830","doi-asserted-by":"crossref","first-page":"170135","DOI":"10.1183\/16000617.0135-2017","article-title":"Systematic review of drug effects in humans and models with surfactant-processing disease","volume":"27","author":"Klay","year":"2018","journal-title":"Eur Respir Rev"},{"key":"R8-9-20240830","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1016\/j.jpeds.2006.06.004","article-title":"Long-term outcomes after infant lung transplantation for surfactant protein B deficiency related to other causes of respiratory failure","volume":"149","author":"Palomar","year":"2006","journal-title":"J Pediatr"},{"key":"R9-9-20240830","doi-asserted-by":"crossref","first-page":"3929","DOI":"10.1038\/s41467-020-17577-8","article-title":"A lung tropic AAV vector improves survival in a mouse model of surfactant B deficiency","volume":"11","author":"Kang","year":"2020","journal-title":"Nat Commun"}],"container-title":["Annals of Thoracic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/atm.atm_445_21","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T19:13:24Z","timestamp":1787166804000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/atm.atm_445_21"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4]]},"references-count":9,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2022]]}},"URL":"https:\/\/doi.org\/10.4103\/atm.atm_445_21","relation":{},"ISSN":["1817-1737"],"issn-type":[{"value":"1817-1737","type":"print"}],"subject":[],"published":{"date-parts":[[2022,4]]}}}