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Cystic fibrosis mutations and genotype–pulmonary phenotype analysis

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1 Cystic fibrosis mutations and genotype–pulmonary phenotype analysis
Andrew T. Braun, Philip M. Farrell, Claude Ferec, Marie Pierre Audrezet, Anita Laxova, Zhanhai Li, Michael R. Kosorok, Marjorie A. Rosenberg, William M. Gershan  Journal of Cystic Fibrosis  Volume 5, Issue 1, Pages (January 2006) DOI: /j.jcf Copyright © 2005 European Cystic Fibrosis Society Terms and Conditions

2 Fig. 1 Wisconsin and Brasfield chest X-ray scores for F508del/F508del group (n=38) and pancreatic sufficiency group (n=19). The bands show the 95% confidence interval for each group, and the dashed lines indicate the threshold value for probable radiographic irreversibility [20,32]. Group comparisons using GEE models adjusting for center, gender, meconium ileus status, and age revealed that the pancreatic sufficiency group was significantly better than the F508dek/F508del group in WCXR [estimate (p-value), −4.01 (p<.001)] and BCXR [estimate (p-value), 1.46 (p=.001)] scores. From ages 7 and 8 years, there were significant differences in WCXR and BCXR scores, respectively, between groups by t test comparisons, i.e., at each age interval. Journal of Cystic Fibrosis 2006 5, 33-41DOI: ( /j.jcf ) Copyright © 2005 European Cystic Fibrosis Society Terms and Conditions

3 Fig. 2 The % predicted FEV1 and % predicted FEF25–75 for F508del/F508del group (n=38) and pancreatic sufficiency group (n=19). The bands show the 95% confidence interval for each group. Group comparisons using GEE models adjusting for center, gender, meconium ileus status, and age revealed that the pancreatic sufficiency group was similar to the F508del/F508del group in % predicted FEV1 [estimate (p-value), 5.45 (p=.12)] and % predicted FEF25–75 [estimate (p-value), 8.26 (p=.27)]. There were no significant differences in % predicted FEV1 and % predicted FEF25–75 between groups for any ages by t test comparisons. Journal of Cystic Fibrosis 2006 5, 33-41DOI: ( /j.jcf ) Copyright © 2005 European Cystic Fibrosis Society Terms and Conditions

4 Fig. 3 Comparison of patients 1 and 2 with novel CFTR mutations with the F508del/F508del and pancreatic sufficiency groups on the longitudinal WCXR scores. The segments show the 95% patient-wise lower prediction interval (calculated as described under Statistical analyses) and the dashed line at WCXR=5 indicates the threshold for probable radiographic irreversibility [20,32]. Journal of Cystic Fibrosis 2006 5, 33-41DOI: ( /j.jcf ) Copyright © 2005 European Cystic Fibrosis Society Terms and Conditions

5 Fig. 4 Categorization of “mild” mutation patients with the F508del/F508del and pancreatic sufficiency groups based on the longitudinal WCXR scores. The segments show the 95% patient-wise lower prediction interval (calculated as described under Statistical analyses) and the dashed line at WCXR=5 indicates the threshold for probable radiographic irreversibility [20,32]. Journal of Cystic Fibrosis 2006 5, 33-41DOI: ( /j.jcf ) Copyright © 2005 European Cystic Fibrosis Society Terms and Conditions


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