Role of sweat ion ratios in diagnosing cystic fibrosis.

Sweat chloride (Cl ) concentration is the gold standard for diagnosing cystic fibrosis (CF). This is, however, challenging among patients with borderline values. Previous studies have reported that the sweat Cl /Na ratio may be useful for diagnosing CF; however, little is known about Cl /K and (Cl  + Na )/K ratios.

Optical Measurements of Sweat for in Vivo Quantification of CFTR Function in Individual Sweat Glands.

Optical measurement of CFTR-dependent sweat secretion stimulated by a beta-adrenergic cocktail (C-phase) vs. CFTR-independent sweat secretion induced by methacholine (M-phase) can discriminate cystic fibrosis (CF) patientts from controls and healthy carriers by the ratio of sweat rate in the C-phase vs. the M-phase (C/M ratio).

Genotypic and phenotypic relatedness of Pseudomonas aeruginosa isolates among the major cystic fibrosis patient cohort in Italy.

Background: Pseudomonas aeruginosa is the predominant pathogen associated with the decline of pulmonary function in cystic fibrosis (CF) patients. Both environment-to-host acquisition and patient-to-patient transmission have been described for P. aeruginosa infection.

Impact of polymorphism of Multidrug Resistance-associated Protein 1 (ABCC1) gene on the severity of cystic fibrosis.

A 5'FR/G-260C (NCBI reference: 010393.16:g.15983174C>G) functional polymorphism of Multidrug Resistance-associated Protein 1 (ABCC1) promoter has been reported which influences ABCC1 expression including inflammatory related events.

Growth and long-term lung function in cystic fibrosis: a longitudinal study of patients diagnosed by neonatal screening.

Objective: So far there is no long-term analysis relating the achievement of growth milestones (such as prepubertal and pubertal take-off and peak velocity) to the course of respiratory function from childhood to adulthood in cystic fibrosis. This study was designed to evaluate linear growth and severity of lung disease, find a correlation between growth and disease severity throughout childhood.

Patients: One hundred sixty-three patients from one center were selected according to: diagnosis by neonatal screening, complete follow-up available (four height measurements/year) until the age of 20, respiratory tests available from the age of 5-6 years until adulthood, lung transplantation, or death.

Epidemiology and survival analysis of cystic fibrosis in an area of intense neonatal screening over 30 years.

This population-based study was conducted in Veneto and Trentino (northwestern Italy, population 5 million). In this area, neonatal screening for cystic fibrosis started in 1973 and has been virtually universal since the early 1980s. During this study, the estimated incidence of cystic fibrosis in this region was 1/2,650 livebirths per year.