Summary Rationale Previous investigations of cystic fibrosis (CF) incidence in Massachusetts, Colorado, and Minnesota (USA) yielded contradictory results, particularly regarding allele p.Phe508del; the racial compositions of the cohorts were not reported. Objectives To clarify discrepancies in reported incidence with the ultimate goal of improving screening and quality of care, we assessed CF incidence, stratified by race and mutations in cystic fibrosis transmembrane conductance regulator (CFTR), in Wisconsin (USA) from 1994 to 2011. Methods Data on patients diagnosed with CF (N=283), CFTR genotypes, CF carriers, and birth rate were collected. All data were categorized by racial background of the birth mother and the incidence of CF births was accordingly adjusted. Spearman’s nonparametric rank correlation and Fisher’s exact test were performed for continuous and categorical variables, respectively. Trends over time were fitted with a cubic spline. Results We detected a trending increase in CF cases (range within all data 1.67–2.98 per 10,000 births per year), homozygous p.Phe508del cases (0.57–1.79 per 10,000), heterozygous p.Phe508del cases (0.29–1.55 per 10,000), and cases lacking p. Phe508del (0–0.45 per 10,000). Both the number of cases lacking the p.Phe508del mutation per year and the number of cases lacking p.Phe508del per 10,000 births significantly increased (P=0.05) from 1994 to 2011; the increase in overall incidence was not significant. The number of carriers identified through newborn screening significantly increased within the non-Hispanic Black (P=0.0.021) and Hispanic (P=0.003) populations. Conclusion The racial composition of the CF cohort is changing in Wisconsin, possibly influencing disease detection, care, and outcome.
Methods: DNA was isolated from bronchoalveolar lavage of 75 subjects with IPF diagnosed less than or equal to 4 years prior. Amplicon libraries of the 16S rRNA gene were constructed by amplifying the V5-V3 region. 454 Pyrosequencing was performed using the GS-FLX Titanium. Operational taxonomic units were assigned using mothur software based on 3% sequence divergence and RDP taxonomy classification. The primary combined outcome was time until: death, acute exacerbation, lung transplant, or drop in FVC of 10% or diffusing capacity of carbon monoxide (DL CO ) of 15%. Cox models adjusted for age, sex, smoking status, FVC%, DL CO %, and desaturation less than 88% during 6-minute walk test identified operational taxonomic units significantly associated with the combined endpoint at a P , 0.10 level. The community structure of these microbes was assessed by principal components (PC) analysis. These PCs were then used in the adjusted Cox proportional hazards model to predict the combined endpoint.
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