CF screening

COST-EFFECTIVENESS OF CARRIER SCREENING FOR CYSTIC FIBROSIS IN AUSTRALIA Short title: Cost-effectiveness of CF carrier screening

Class 1 CF Mutations

Since the discovery of the gene that causes Cystic Fibrosis, our knowledge of how mutations in this gene cause the varied pathophysiological manifestations of this disease has increased substantially. This knowledge has led to the possibility of new therapeutic approaches aimed at the basic defect. Class I mutations of CFTR include premature termination codons (PTCs) or stop codons. In the last...

Colon cancer in lung transplant recipients with CF: increased risk and results of screening.

OBJECTIVE To determine the incidence of colon cancer in lung transplant recipients with cystic fibrosis (CF) and review screening colonoscopic findings in other recipients with CF. METHODS A retrospective chart review was performed for all patients with CF transplanted at the University of Wisconsin Hospital and Clinics (January 1994 through December 2010). RESULTS Four of 70 transplant rec...

p.Phe508del, p.Gly542X, p.Arg1162X, p.Asn1303Lys, and p.Lys683serfsX38 mutations in CF newborn screening of Brazilian children.

To the Editor: The diagnosis of cystic fibrosis (CF) based on clinical history may not detect mild conditions of this disease and may lead to the death of patients with severe conditions prior to genotyping and diagnosis; as a result, certain genotypes may be underdiagnosed. In Brazil, the first study on mutation frequency in children with CF who were screened at birth was conducted by Perone e...

Sweat testing in CF.

The European Diagnostic Working Group presented comprehensive diagnostic algorithms for cystic fibrosis (CF) and confirmed the fundamental role of the sweat test for the diagnosis of CF. However, several important differences between well-accepted guidelines for sweat testing 3 and the recommendations of the Working Group need to be discussed. An adequate sweat sampling volume depends on the sa...