CF Population (cf + population)

Distribution by Scientific Domains
Medical Sciences75%

Selected Abstracts

One-year glargine treatment can improve the course of lung disease in children and adolescents with cystic fibrosis and early glucose derangements

PEDIATRIC DIABETES, Issue 3 2009
Enza Mozzillo
Background:, Diabetes increases morbidity and mortality in cystic fibrosis (CF) patients, but several studies indicate that also prediabetic status may have a potential impact on both nutrition and lung function. Objective:, To evaluate the effect of glargine on the clinical course in CF patients with early glucose derangements. Methods:, CF population was screened for glucose tolerance. CF patients with age >10 yr were screened with fasting hyperglycemia (FH). CF patients with age >10 yr without FH and those with age <10 yr with occasional FH were evaluated for glucose abnormalities on the basis of oral glucose tolerance test and/or continuous glucose monitoring system. All CF patients with glucose derangements were enrolled in an open clinical trial with glargine. Body mass index (BMI) z-score, forced expiratory volume in the first second (FEV1), number of acute pulmonary exacerbations and hemoglobin A1c, were as outcome measures at baseline and after 1 yr of treatment. Results:, After 12 months of therapy, BMI z-score improved only in patients with baseline BMI z-score less than ,1 (p = 0.017). An 8.8% increase in FEV1 (p = 0.01) and 42% decrease in the number of pulmonary exacerbations (p = 0.003) were found in the whole group compared with previous 12 months of therapy. Conclusion:, Glargine could represent an innovative strategy to prevent lung disease progression in CF patients with early glucose derangements. Larger controlled trials are needed to better clarify the effects of insulin on clinical status in CF patients with early glucose derangements. [source]

Trends in the clinical characteristics of the U.S. cystic fibrosis patient population from 1995 to 2005

PEDIATRIC PULMONOLOGY, Issue 8 2008
Donald R. VanDevanter
Abstract Rationale Respiratory signs and symptoms (cough, sputum production, or crackles) are considered bellwethers of underlying cystic fibrosis (CF) lung disease. If respiratory signs and symptoms predict future lung function loss, then improvements in population lung function over the past decade should have been paralleled by a decrease in the prevalence of these variables in the same population. Additionally, changes in these variables over the past decade may provide insight into the improving health of the CF population. Methods Cross-sectional data from the Epidemiologic Study of Cystic Fibrosis for each year between 1995 and 2005 were analyzed to characterize changes in pulmonary function and respiratory signs and symptoms over time. Patients were separated into five age groups: <6, 6,12, 13,17, 18,24, and ,25 years. Results Serial cross-sectional analyses of an average of 13,381 patients per year indicated that mean pulmonary function for the CF population improved and the percent of patients reporting cough or sputum production or having crackles or wheeze at their clinic visit decreased over the study period. Observed changes in pulmonary function were not consistently mirrored by changes in symptoms, which differed as a function of the variable studied and the age group. Conclusions Reductions in respiratory signs and symptoms have paralleled improvements in pulmonary function. Both the absolute and relative magnitude of changes in prevalence for cough, sputum production, crackles, and wheeze differed among age groups and among variables. These results suggest the possibility that differences in respiratory signs and symptoms may arise from different underlying pathologies and may be influenced differently by therapeutic interventions. Pediatr Pulmonol. 2008; 43:739,744. © 2008 Wiley-Liss, Inc. [source]

Metabolic alkalosis with hypoelectrolytemia in infants with cystic fibrosis

PEDIATRICS INTERNATIONAL, Issue 3 2002
Stojka Fustik
Abstract Background: Infants with cystic fibrosis (CF) can develop episodes of hyponatremic hypochloremic dehydration with metabolic alkalosis when they sweat excessively, which is not caused by sweating in normal infants. We investigated the incidence of the metabolic alkalosis with hypoelectrolytemia in CF infants, the possible risk factors for its occurrence and the importance of the manifestation in the diagnosis of CF. Methods: In order to evaluate the incidence and the risk factors for the development of this sweat-related metabolic disorder in CF, we reviewed the records of all children diagnosed as having CF before the age of 12 months in a 10-year period. Data analysis included medical history data, clinical features, biochemical parameters (blood pH, serum bicarbonate, sodium, chloride and potassium levels), sweat chloride test values, as well as genetic analysis data. Results: The prevalence of metabolic alkalosis in association with low serum electrolyte concentrations (hyponatremia, hypochloremia, and hypokalemia) in infant CF population in our region was 16.5%. We found no season predilection in its occurrence. Early infant age, breast-feeding, delayed CF diagnosis, heat exhaustion and the presence of severe CF transmembrane conductance regulator mutations are predisposed factors for the development of metabolic alkalosis with hypoelectrolytemia. Conclusions: The results from our study suggest that metabolic alkalosis with hypoelectrolytemia is a relatively common manifestation of CF in infancy. The possibility of CF should be seriously considered in any infant with this metabolic disorder. [source]

CFTR Rearrangements in Spanish Cystic Fibrosis Patients: First New Duplication (35kb) Characterised in the Mediterranean Countries

ANNALS OF HUMAN GENETICS, Issue 5 2010
Marķa D. Ramos
Summary Developments in quantitative PCR technologies have greatly improved our ability to detect large genome rearrangements. In particular oligonucleotide-based array comparative genomic hybridisation has become a useful tool for appropriate and rapid detection of breakpoints. In this work, we have analysed 80 samples (42 unknown CF alleles) applying three quantitative technologies (MLPA, qPCR and array-CGH) to detect recurrent as well as novel large rearrangements in the Spanish CF population. Three deletions and one duplication have been identified in five alleles (12%). Interestingly, we provide the comprehensive characterisation of the first duplication in our CF cohort. The new CFTRdupProm-3 mutation spans 35.7 kb involving the 5,-end of the CFTR gene. Additionally, the RNA analysis has revealed a cryptic sequence with a premature termination codon leading to a disrupted protein. This duplication has been identified in five unrelated families from Spain, France and Italy with all patients showing the same associated haplotype, which is further evidence for its likely common Mediterranean origin. Overall, considering this and other previous studies, CFTR rearrangements account for 1.3% of the Spanish CF alleles. [source]