{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T01:39:15Z","timestamp":1777426755997,"version":"3.51.4"},"reference-count":102,"publisher":"Wiley","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mediators of Inflammation"],"published-print":{"date-parts":[[2014]]},"abstract":"<jats:p>Rett syndrome (RTT) is a pervasive neurodevelopmental disorder mainly linked to mutations in the gene encoding the methyl-CpG-binding protein 2 (MeCP2). Respiratory dysfunction, historically credited to brainstem immaturity, represents a major challenge in RTT. Our aim was to characterize the relationships between pulmonary gas exchange abnormality (GEA), upper airway obstruction, and redox status in patients with typical RTT (<jats:italic>n<\/jats:italic>= 228) and to examine lung histology in a<jats:italic>Mecp2<\/jats:italic>-null mouse model of the disease. GEA was detectable in ~80% (184\/228) of patients versus ~18% of healthy controls, with \u201chigh\u201d (39.8%) and \u201clow\u201d (34.8%) patterns dominating over \u201cmixed\u201d (19.6%) and \u201csimple mismatch\u201d (5.9%) types. Increased plasma levels of non-protein-bound iron (NPBI), F<jats:sub>2<\/jats:sub>-isoprostanes (F<jats:sub>2<\/jats:sub>-IsoPs), intraerythrocyte NPBI (IE-NPBI), and reduced and oxidized glutathione (i.e., GSH and GSSG) were evidenced in RTT with consequently decreased GSH\/GSSG ratios. Apnea frequency\/severity was positively correlated with IE-NPBI, F<jats:sub>2<\/jats:sub>-IsoPs, and GSSG and negatively with GSH\/GSSG ratio. A diffuse inflammatory infiltrate of the terminal bronchioles and alveoli was evidenced in half of the examined<jats:italic>Mecp2<\/jats:italic>-mutant mice, well fitting with the radiological findings previously observed in RTT patients. Our findings indicate that GEA is a key feature of RTT and that terminal bronchioles are a likely major target of the disease.<\/jats:p>","DOI":"10.1155\/2014\/560120","type":"journal-article","created":{"date-parts":[[2014,3,17]],"date-time":"2014-03-17T21:02:35Z","timestamp":1395090155000},"page":"1-15","source":"Crossref","is-referenced-by-count":23,"title":["Inflammatory Lung Disease in Rett Syndrome"],"prefix":"10.1155","volume":"2014","author":[{"given":"Claudio","family":"De Felice","sequence":"first","affiliation":[{"name":"Neonatal Intensive Care Unit, University Hospital Azienda Ospedaliera Universitaria Senese (AOUS), Viale M. 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