{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,3]],"date-time":"2025-10-03T13:11:21Z","timestamp":1759497081583},"reference-count":0,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2007,7,12]],"date-time":"2007-07-12T00:00:00Z","timestamp":1184198400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2007,8]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Newborn screening (NBS) of cystic fibrosis (CF) was implemented throughout the whole of France in 2002, but it had been established earlier in three western French regions. It can reveal atypical CF with one or two known CFTR mild mutations, with an uncertain evolution. The sweat test can be normal or borderline. In Brittany, from 1989 to 2004, 196 CF cases were diagnosed (1\/2885 births). The incidence of atypical CF diagnosed by NBS is 9.7% (19 from 196). The outcome of 17 (2 lost of view) has been studied, with 9 other atypical CF cases diagnosed by NBS in two other regions. The follow\u2010up period extends from 0.25 to 19.8 years (NBS implemented in Normandy in 1980) with mean age 4.6 years. The most frequent mild mutation is R117H ISV8\u22127T (50%). At the time of the last visit, nutritional status is normal. All these CF patients are pancreatic sufficient. Only one patient exhibits respiratory infections, whereas 7 others have them intermittently. Two of them had intermittent <jats:italic>Pseudomonas aeruginosa<\/jats:italic> colonization at 2.8 and 6.5 years. Mean Shwachman score is 96.7, mean Brasfield score is 22.8. Eight children have had lung function tests (mean follow\u2010up of 10 years): mean FVC was 99% of predicted, mean FEV<jats:sub>1<\/jats:sub> 101%, but one of them has FEV<jats:sub>1<\/jats:sub> of 48%. Predicting the phenotype of these atypical CF patients remains difficult, thus complicating any genetic counselling. A regular clinical evaluation is necessary, if possible by a CF unit, because CF symptoms may appear later.<\/jats:p>","DOI":"10.1007\/s10545-007-0633-8","type":"journal-article","created":{"date-parts":[[2007,7,16]],"date-time":"2007-07-16T16:43:24Z","timestamp":1184604204000},"page":"613-613","source":"Crossref","is-referenced-by-count":25,"title":["Neonatal screening of cystic fibrosis: diagnostic problems with CFTR mild mutations"],"prefix":"10.1002","volume":"30","author":[{"given":"M.","family":"Roussey","sequence":"first","affiliation":[{"name":"Centre de Ressources et de comp\u00e9tences de la mucoviscidose (CRCM) Universit\u00e9 de Rennes 1 et Association R\u00e9gionale de D\u00e9pistage et de Pr\u00e9vention des Handicaps de l'Enfant (ARDPHE) de Bretagne Rennes France"},{"name":"CRCM P\u00e9diatrique CHU Anne de Bretagne 16 Bd de Bulgarie Rennes cedex 35203 France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Le Bihannic","sequence":"additional","affiliation":[{"name":"Centre de Ressources et de comp\u00e9tences de la mucoviscidose (CRCM) Universit\u00e9 de Rennes 1 et Association R\u00e9gionale de D\u00e9pistage et de Pr\u00e9vention des Handicaps de l'Enfant (ARDPHE) de Bretagne Rennes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"Scotet","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire Universit\u00e9 de Bretagne Occidentale, and INSERM U613 Brest France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. P.","family":"Audrezet","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire Universit\u00e9 de Bretagne Occidentale, and INSERM U613 Brest France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Blayau","sequence":"additional","affiliation":[{"name":"Service de Biologie Mol\u00e9culaire Rennes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Dagorne","sequence":"additional","affiliation":[{"name":"Centre de Ressources et de comp\u00e9tences de la mucoviscidose (CRCM) Universit\u00e9 de Rennes 1 et Association R\u00e9gionale de D\u00e9pistage et de Pr\u00e9vention des Handicaps de l'Enfant (ARDPHE) de Bretagne Rennes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"David","sequence":"additional","affiliation":[{"name":"Centre de Ressources et de comp\u00e9tences de la mucoviscidose (CRCM) Nantes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E.","family":"Deneuville","sequence":"additional","affiliation":[{"name":"Centre de Ressources et de comp\u00e9tences de la mucoviscidose (CRCM) Universit\u00e9 de Rennes 1 et Association R\u00e9gionale de D\u00e9pistage et de Pr\u00e9vention des Handicaps de l'Enfant (ARDPHE) de Bretagne Rennes France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. L.","family":"Gini\u00e8s","sequence":"additional","affiliation":[{"name":"Centre de Ressources et de comp\u00e9tences de la mucoviscidose (CRCM) Angers France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Laurans","sequence":"additional","affiliation":[{"name":"Centre de Ressources et de comp\u00e9tences de la mucoviscidose (CRCM) Caen France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"Moisan\u2010Petit","sequence":"additional","affiliation":[{"name":"Centre de Ressources et de comp\u00e9tences de la mucoviscidose (CRCM) Bretagne\u2010sud France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Rault","sequence":"additional","affiliation":[{"name":"Centre de Ressources et de comp\u00e9tences de la mucoviscidose (CRCM) Roscoff France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Vigneron","sequence":"additional","affiliation":[{"name":"Centre de Ressources et de comp\u00e9tences de la mucoviscidose (CRCM) Bretagne\u2010sud France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"F\u00e9rec","sequence":"additional","affiliation":[{"name":"Laboratoire de G\u00e9n\u00e9tique Mol\u00e9culaire Universit\u00e9 de Bretagne Occidentale, and INSERM U613 Brest France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,7,12]]},"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-007-0633-8","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T04:34:24Z","timestamp":1694752464000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-007-0633-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,7,12]]},"references-count":0,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2007,8]]}},"alternative-id":["10.1007\/s10545-007-0633-8"],"URL":"https:\/\/doi.org\/10.1007\/s10545-007-0633-8","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,7,12]]}}}