The survival of patients with cystic fibrosis (CF) continues to improve. The discovery and cloning of the CFTR gene more than 21 years ago led to the identification of the structure and function of the CFTR chloride channel. New therapies based on the understanding of the function of CFTR are currently under development. The better clinical status and improved survival of patients with CF is no...

Although lung disease is the major cause of mortality in cystic fibrosis (CF), gastrointestinal (GI) manifestations are the first hallmarks in 15-20% of affected newborns presenting with meconium ileus, and remain major causes of morbidity throughout life. We have previously shown that cGMP-dependent phosphodiesterase type 5 (PDE5) inhibitors rescue defective CF Transmembrane conductance Regula...

Study objective—Evaluating the costs, eVects, and savings of several strategies for cystic fibrosis (CF) gene carrier screening. Design—A general model for evaluating prenatal, preconceptional, school, and neonatal carrier screening was constructed. For prenatal and preconceptional screening, two strategies were evaluated: single entry and double entry two step couple screening. Firstly, the Du...

OBJECTIVE Infants and toddlers with cystic fibrosis (CF) are at risk for poor growth. Controlled behavioral assessment studies have not focused on this population. This study compared calorie intake, percentage of Recommended Daily Allowance (RDA) per day and per kilogram, and percentage of calories from fat, protein, and carbohydrates between infants and toddlers with CF and healthy peers. Als...

Cystic Fibrosis (CF) is the most common fatal inherited disease of Caucasians, affecting about 1 in 3000 births. Patients with CF have a recessive mutation in the gene encoding the CF transmembrane conductance regulator (CFTR). CFTR is expressed in the epithelium of many organs throughout the exocrine system, however, inflammation and damage of the airways as a result of persistent progressive ...

This paper focuses on how adults with cystic fibrosis (CF) attending a specialist CF centre in the UK perceive their health. In common with many other genetic diseases, CF is traditionally conceptualised as a fatal childhood disease, yet the average survival age for those with CF has been steadily rising over the past half century. Thus it is now predicted that those born in 1990 will live on a...

We constructed artificial intelligence (AI) models to predict faecal water quality (CF) aid management in recreational beaches. Historical data base generated by the Laboratorio de Calidad Ambiental la Intendencia Montevideo (IM) was analized and AI wwere CF excess (CF >2.000). Ten years of monitoring 21 beaches (N=19359, november 2009 september 2019) presented a wide range salinity turbidit...

As new technologies enable the development of non-invasive prenatal diagnosis (NIPD) for cystic fibrosis (CF), research examining stakeholder views is essential for the preparation of implementation strategies. Here, we compare the views of potential service users with those of health professionals who provide counselling for prenatal tests. A questionnaire incorporating a discrete choice exper...