<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Muriel Thomas</style></author><author><style face="normal" font="default" size="100%">Lemonnier, Lydie</style></author><author><style face="normal" font="default" size="100%">Gulmans, Vincent</style></author><author><style face="normal" font="default" size="100%">Naehrlich, Lutz</style></author><author><style face="normal" font="default" size="100%">Vermeulen, François</style></author><author><style face="normal" font="default" size="100%">Cuppens, Harry</style></author><author><style face="normal" font="default" size="100%">Castellani, Carlo</style></author><author><style face="normal" font="default" size="100%">Norek, Aleksandra</style></author><author><style face="normal" font="default" size="100%">De Boeck, Kris</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Is there evidence for correct diagnosis in cystic fibrosis registries?</style></title><secondary-title><style face="normal" font="default" size="100%">J Cyst Fibros</style></secondary-title><alt-title><style face="normal" font="default" size="100%">J. Cyst. Fibros.</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">ADOLESCENT</style></keyword><keyword><style  face="normal" font="default" size="100%">Adult</style></keyword><keyword><style  face="normal" font="default" size="100%">Aged</style></keyword><keyword><style  face="normal" font="default" size="100%">Benchmarking</style></keyword><keyword><style  face="normal" font="default" size="100%">Child</style></keyword><keyword><style  face="normal" font="default" size="100%">Cystic Fibrosis</style></keyword><keyword><style  face="normal" font="default" size="100%">Cystic Fibrosis Transmembrane Conductance Regulator</style></keyword><keyword><style  face="normal" font="default" size="100%">Diagnostic Errors</style></keyword><keyword><style  face="normal" font="default" size="100%">Europe</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">middle aged</style></keyword><keyword><style  face="normal" font="default" size="100%">REGISTRIES</style></keyword><keyword><style  face="normal" font="default" size="100%">Young adult</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2014</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2014 May</style></date></pub-dates></dates><number><style face="normal" font="default" size="100%">280</style></number><volume><style face="normal" font="default" size="100%">13</style></volume><pages><style face="normal" font="default" size="100%">275-80</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;&lt;b&gt;BACKGROUND: &lt;/b&gt;Cystic fibrosis (CF) spans a wide spectrum. Therefore, benchmarking between registries implies comparing similar cohorts.&lt;/p&gt;

&lt;p&gt;&lt;b&gt;OBJECTIVE AND METHODS: &lt;/b&gt;Explore patient characteristics in Belgian (B), French (F), German (G) and Dutch (NL) registries (total N=13,122) and determine whether they fulfill predefined diagnostic criteria.&lt;/p&gt;

&lt;p&gt;&lt;b&gt;RESULTS: &lt;/b&gt;Using as case definition sweat chloride &amp;gt;60mmol/L or 2 CFTR mutations identified, CF diagnosis was not documented in 2.8, 5.7, 6.5 and 21.6% of subjects in the F, B, NL, and G registries. Restricting CFTR mutation interpretation to 124 CF causing mutations in CFTR2, these numbers rose to 10.5, 10.4, 14.5 and 24.3% respectively. Excluding these subjects impacted on outcomes. The impact differed between countries; the largest changes seen were a decrease in % adults from 51.9 to 47.8% in G, a decrease in % pancreas sufficiency from 17.0 to 13.0 in F, an increase in % homozygous for F508del from 55.3 to 63.7 in NL and a decrease of % with sweat chloride &amp;le;60mmol/L from 8.4 to 1.1 in B.&lt;/p&gt;

&lt;p&gt;&lt;b&gt;CONCLUSION: &lt;/b&gt;CF diagnosis is not documented in 10 to 24% of patients included in CF registries. Excluding these patients for analyses leads to significant changes in outcomes.&lt;/p&gt;
</style></abstract><issue><style face="normal" font="default" size="100%">3</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/24274930?dopt=Abstract</style></custom1><section><style face="normal" font="default" size="100%">275</style></section></record></records></xml>