High-resolution computed tomography findings in young infants with cystic fibrosis detected by newborn screening
CONCLUSION: A substantial proportion of infants diagnosed with CF after detection by NBS already showed evidence of lung disease. P. aeruginosa colonization was associated with increas ed Bhalla scores, highlighting the importance of this CF pathogen in early structural lung disease. The presence of bronchial wall thickening at such a young age may reflect the presence of airway inflammatory processes. The detection and quantification of structural abnormalities with the modified Bhalla score may aid in the identification of lung disease before it is clinically apparent.
Abstract Pathogenic variants in the Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR) are responsible for cystic fibrosis (CF), the commonest monogenic autosomal recessive disease, and CFTR-related disorders in infants and youth. Diagnosis of such diseases relies on clinical, functional, and molecular studies. To date, over 2,000 variants have been described on CFTR (~40% missense). Since few of them have confirmed pathogenicity, in silico analysis could help molecular diagnosis and genetic counseling. Here, the pathogenicity of 779 CFTR missense variants was predicted by consensus predictor PredictSNP and co...
A new treatment for lung disease in cystic fibrosis (CF) for which there remains no cure could potentially benefit all patients, according to a University of Bristol study published in Chemical Science. The findings are an important step towards a new therapy addressing the fundamental cause of cystic fibrosis.
Abstract Kairen Griffiths, Cystic Fibrosis Nurse Specialist, NHS Grampian, discusses her role caring for people with cystic fibrosis and why she feels lucky to have worked in this field for over two decades. PMID: 31714832 [PubMed - in process]
ConclusionsTherapeutic drug monitoring-guided meropenem may be a sound new therapeutic option in eradicating multidrug resistant Acinetobacter and offer a novel therapeutic option in the field of personalized medicine.
Vertex Pharmaceuticals Inc's drugs for lung condition cystic fibrosis will now be available to patients across the UK after the company reached a pricing deal with Wales on Wednesday.
ConclusionCFTR could inhibit cell autophagy by enhancing PI3K/AKT/mTOR signaling pathway, thereby playing a protective role in LPS-induced ALI in mice.
Cystic fibrosis (CF) is the most common severe autosomal recessive genetic disease in Caucasians caused by variants in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR), a chloride channel expressed in epithelial cells throughout the body . To date, over 2,000 variants in the CFTR gene have been identified world-wide. The international CF genetics research community has contributed these data to the CFTR2 database (http://www.cftr2.org), which provides information on different CFTR variants and their disease liability by a phenotype-driven approach .
ConclusionNebulized NaHCO3 inhalation appears to be a safe and well tolerated potential therapeutic agent in the management of CF. Nebulized NaHCO3 inhalation temporarily elevates airway liquid pH and reduces sputum viscosity and viscoelasticity.
Authors: Ruszel N, Kubisa B, Lisowski P, Piotrowska M, Kubisa MJ, Brykczyński M, Wojtyś M, Pieróg J, Czarnecka M, Wójcik J, Wójcik N, Sielicki P, Bielewicz M, Grodzki T PMID: 31708987 [PubMed]
Publication date: Available online 11 November 2019Source: The Lancet Respiratory MedicineAuthor(s): Daniel J Wolter, Frankline M Onchiri, Julia Emerson, Mimi R Precit, Michael Lee, Sharon McNamara, Laura Nay, Marcella Blackledge, Ahmet Uluer, David M Orenstein, Michelle Mann, Wynton Hoover, Ronald L Gibson, Jane L Burns, Lucas R Hoffman, Daniel J Wolter, Frankline M Onchiri, Julia Emerson, Mimi R Precit, Michael LeeSummaryBackgroundStaphylococcus aureus is the bacterium cultured most often from respiratory secretions of people with cystic fibrosis. Both meticillin-susceptible S aureus and meticillin-resistant S aureus (MR...