Publications by authors named "T F Scanlin"
Article Synopsis
- Cystic fibrosis (CF) is now commonly diagnosed through newborn screening (NBS), with methods in the USA evolving to reduce missed cases thanks to better understanding of CF genetics and improved lab techniques.
- In New Jersey, where CF NBS was first implemented in 2001, researchers reviewed cases of false negative screenings to evaluate the respiratory health of these missed cases and the need for program improvements.
- The study of five children with severe lung disease despite negative screens led to changes in the screening algorithm, including a lower immunoreactive trypsinogen (IRT) cutoff and a broader CFTR variant testing panel, with further improvements expected in the future.
Background: Cystic Fibrosis (CF) genotypes in South Asians are variable with a decreased incidence of Delta F508 and an increased incidence of novel mutations. The objective of this study is to provide clinical evidence that V456A, a novel mutation in South Asian Cystic Fibrosis patients, can cause significant lung disease.
Methods: We extracted clinical data from a retrospective chart review of 2 CF patients of South Asian descent.
Background And Aims: Poor nutrition and growth status are common in people with cystic fibrosis (CF), and females often have a worse clinical course. Relationships between sexual maturity, nutrition, resting energy expenditure (REE), and pulmonary status in females with CF and pancreatic insufficiency (PI) were evaluated.
Methods: Pre- and post-menarcheal females with CF and PI (8-29 yr) were compared to healthy females.
Altered terminal glycosylation, with increased fucosylation and decreased sialylation, is a hallmark of the cystic fibrosis (CF) glycosylation phenotype. The glycosylation phenotype of CF airway epithelial cells has been modulated by the expression of wtCFTR. Understanding the effects of mutant CFTR on glycosylation may provide further insight into the regulation of glycoconjugate processing as well as new approaches to the therapy of CF.
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