Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin.

Aminoglycosides can readthrough premature termination codons (PTCs), permitting translation of full-length proteins. Previously we have found variable efficiency of readthrough in response to the aminoglycoside gentamicin among cystic fibrosis (CF) patients, all carrying the W1282X nonsense mutation. Here we demonstrate that there are patients in whom the level of CF transmembrane conductance regulator (CFTR) nonsense transcripts is markedly reduced, while in others it is significantly higher.

A single dose of dexamethasone to prevent postbronchoscopy fever in children: a randomized placebo-controlled trial.

Study Objective: To assess the effectiveness of one dose of dexamethasone (0.5 mg/kg; maximum, 10 mg) to prevent fever after bronchoscopy with BAL.

Design: Randomized, placebo-controlled study.

[Cystic fibrosis from the exocrine pancreatic point of view].

Cystic fibrosis (CF) is the most common life-limiting autosomal recessive genetic disorder in Caucasians and is characterized by a wide variability of clinical expression. The vast majority of patients with CF have pancreatic insufficiency (PI) requiring exogenous pancreatic enzyme replacement therapy with meals. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which encodes a protein that functions as a chloride channel and is regulated by cAMP.

Adrenal suppression in asthmatic children receiving low-dose inhaled budesonide: comparison between dry powder inhaler and pressurized metered-dose inhaler attached to a spacer.

Background: Dry powder inhalers (DPI) have in recent years become a common mode for administration of inhaled corticosteroids for preventive therapy of asthma. Inhaled steroids delivered by DPI achieve increased lung deposition compared with pressurized metered-dose inhalers (pMDI), which is associated with increased therapeutic effect. This may be associated with increased systemic absorption.

Rate and place of death from asthma among different ethnic groups in Israel: national trends 1980 to 1997.

Study Objectives: To compare the trends of asthma mortality and place of death in young patients (ages 5 to 34 years) from different major population groups in Israel.

Design: Retrospective study.

Patients And Participants: Patients who died from asthma between the years 1980 and 1997 according to the death record of the National Israeli Health Registry.