Document Detail


Lack of effect of delta F508 mutation on aerobic capacity in patients with cystic fibrosis.
MedLine Citation:
PMID:  8894334     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
OBJECTIVE: As aerobic exercise capacity, as defined by VO2max, is associated with patient functioning and possibly prognosis in cystic fibrosis (CF), correlations between VO2max phenotype and genotype may be of value. DESIGN: Retrospective clinical series. SETTING: Cystic fibrosis referral clinic. PATIENTS: Convenience sample of 35 patients with CF consecutively referred for exercise testing. MAIN OUTCOME MEASURES: Blood samples were examined for mutations of cystic fibrosis transmembrane regulator (CFTR), Height, wight, pulmonary function, resting-energy expenditure, VO2max, and other exercise variables were assessed in each referred patient. RESULTS: Statistical comparison of 10 patients who were homozygous for the dF508 mutation of CFTR with 20 patients heterozygous for dF508 revealed no significant differences for height, weight, pulmonary function, resting-energy expenditure, VO2max, or any other exercise variables. CONCLUSIONS: These results imply a limited effect of the mutation status on overall patient functioning and prognosis. Future identification of more rare CFTR mutations and other genes and subsequent classification of patients in a manner reflective of the cellular physiology may lead to different results.
Authors:
T A Kaplan; G Moccia-Loos; M Rabin; R M McKey
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Publication Detail:
Type:  Comparative Study; Journal Article    
Journal Detail:
Title:  Clinical journal of sport medicine : official journal of the Canadian Academy of Sport Medicine     Volume:  6     ISSN:  1050-642X     ISO Abbreviation:  Clin J Sport Med     Publication Date:  1996 Oct 
Date Detail:
Created Date:  1997-02-04     Completed Date:  1997-02-04     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  9103300     Medline TA:  Clin J Sport Med     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  226-31     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, University of Miami School of Medicine, Florida, USA.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Body Height
Body Weight
Cystic Fibrosis / blood,  genetics,  physiopathology*
Cystic Fibrosis Transmembrane Conductance Regulator / blood,  genetics*
Energy Metabolism
Exercise Test
Female
Forced Expiratory Volume / physiology
Genotype
Heterozygote
Homozygote
Humans
Lung / physiopathology
Male
Maximal Midexpiratory Flow Rate / physiology
Mutation / genetics*
Oxygen Consumption / genetics*
Peak Expiratory Flow Rate / physiology
Phenotype
Phenylalanine / genetics*
Physical Exertion / physiology
Prognosis
Rest / physiology
Retrospective Studies
Vital Capacity / physiology
Chemical
Reg. No./Substance:
0/CFTR protein, human; 126880-72-6/Cystic Fibrosis Transmembrane Conductance Regulator; 63-91-2/Phenylalanine

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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