The Pulmonary Therapies Committee of Cystic Fibrosis Foundation recommends long-term use of hypertonic saline for patients with cystic fibrosis aged 6 years or older to improve lung function and to reduce the number of exacerbations.[64] When meconium ileus is diagnosed prenatally, the authors recomme...
colleagues over the years by pulling out some of their best comments and quotes. Emily Kramer-Golinkoff, in response to “A field guide to The Diagnosis Difference” (2013): My advice to a person or parent of a child newly diagnosed with Cystic Fibrosis would be: “I can only imagine [...
mutation-specific drugs capable of restoring function of the defective protein, cystic fibrosis transmembrane conductance regulator (CFTR). However, despite being a single gene disorder, there are multiple cystic fibrosis-causing genetic variants; mutation-specific drugs are...
摘要原文 Cystic fibrosis (CF) is the most common life-shortening autosomal recessive disorder in the Caucasian population and occurs in many other ethnicities worldwide. The daily treatment burden is substantial for CF patients even when they are well, with numerous pharmacologic and physical therapies...
The molecular basis of cystic fibrosis (CF) is a mutation-related defect in the epithelial–cell chloride channel called CF transmembrane conductance regulator (CFTR). This defect alters chloride ion transport and impairs water transport across the cell membrane. Marked clinical heterogeneity occurs ...
Kevin has been a blessing to me. he's taught me what it's like to actually love someone and he's brought me and my other brothers together like nothing else could. Be grateful for your child, cystic fibrosis or not. They'll bring you something nobody else in the world can. Reply...
Since the discovery of the gene associated with cystic fibrosis (CF), there has been tremendous progress in the care of patients with this disease. New therapies have entered the market and are part of the standard treatment of patients with CF, and have
The diagnosis of cystic fibrosis: a consensus statement. Cystic Fibrosis Foundation Consensus Panel. J Pediatr 1998;132:589 –595. 2. Hamosh A, FitzSimmons SC, Macek M Jr, Knowles MR, Rosenstein BJ, Cutting GR. Comparison of the clinical manifestations of cystic fibrosis in black and white ...
Lisa Strug and colleagues report a genome-wide association study for meconium ileus in individuals with cystic fibrosis. Conventional genome-wide approaches identified variants in SLC26A9 and SLC6A14 associated with meconium ileus. The authors also perfo
). Treatment for CF consists of an arduous daily regime to reduce the rate of lung function decline over time (Cystic Fibrosis Foundation, n.d). The primary cause of death among those living with CF is respiratory failure. In this article, we explore how young people living with CF in ...