Lung involvement, the ΔF508 mutation and DNA haplotype analysis in cystic fibrosis

1992 ◽  
Vol 88 (6) ◽  
pp. 639-641 ◽  
Author(s):  
F. Santamaria ◽  
D. Salvatore ◽  
O. Castiglione ◽  
V. Raia ◽  
G. de Ritis ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Haplotype Analysis ◽  
Lung Involvement

Study of lung involvement in patients with cystic fibrosis

2000 ◽  
Vol 76 (4) ◽  
pp. 295-9 ◽  
Author(s):  
Eduardo C. Dornelas ◽  
Maria I.M. Fernandes ◽  
Lívia C. Galvão ◽  
Geruza A. Silva
Keyword(s):  
Cystic Fibrosis ◽  
Lung Involvement

Frequency of the delta Phe508 mutation and correlation with XV.2c/KM-19 haplotypes in an American population of cystic fibrosis patients: results of a collaborative study

1990 ◽  
Vol 36 (10) ◽  
pp. 1741-1746 ◽  
Author(s):  
W E Highsmith ◽  
G L Chong ◽  
H T Orr ◽  
T R Perry ◽  
D Schald ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Haplotype Analysis ◽  
Screening Program ◽  
Collaborative Study ◽  
Population Based ◽  
Carrier Status ◽  
Chain Reaction ◽  
Polymerase Chain ◽  
Phenylalanine Residue ◽  
Test Result

Abstract The cystic fibrosis (CF) gene has been recently cloned, and a deletion of 3 basepairs (bp) of DNA was found on most of the CF chromosomes. This deletion leads to the synthesis of a protein that lacks a phenylalanine residue at position 508. Using two polymerase chain reaction protocols to study the frequency of this mutation in a series of 192 CF patients, we found the mutation on 72% of affected chromosomes. We then used this value to calculate the predictive value of a negative test result in a population-based screening program for CF carrier status. Haplotype analysis with the polymorphic markers XV.2c and KM-19 on 239 CF chromosomes revealed that 90.7% of CF chromosomes with the deletion had a single haplotype. This haplotype was also associated with 60.4% of CF chromosomes with unknown mutations. These values can be used to calculate the probability of whether an individual from the general population is a carrier of any CF mutation.

Frequency of ?F508 mutation and haplotype analysis in Austrian cystic fibrosis families

1992 ◽  
Vol 89 (4) ◽  
Author(s):  
J�rg Larsen ◽  
Anthi Georghiou ◽  
FritzD. Kury ◽  
Manfred G�tz ◽  
Konstanze Sanz ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Haplotype Analysis

Genetic counselling for cystic fibrosis based upon mutation/haplotype analysis

The Lancet ◽  
1990 ◽  
Vol 336 (8708) ◽  
pp. 190-191 ◽  
Author(s):  
Eila Watson ◽  
Bob Williamson ◽  
Louise Brueton ◽  
Robin Winter
Keyword(s):  
Cystic Fibrosis ◽  
Genetic Counselling ◽  
Haplotype Analysis

High Resolution CT in Children with Cystic Fibrosis

1992 ◽  
Vol 33 (6) ◽  
pp. 548-553 ◽  
Author(s):  
R. Stiglbauer ◽  
H. Schurawitzki ◽  
I. Eichler ◽  
M. Götz
Keyword(s):  
Cystic Fibrosis ◽  
High Resolution ◽  
Motion Artifacts ◽  
Wall Thickening ◽  
Lung Involvement ◽  
Bronchial Wall ◽  
High Resolution Ct ◽  
Valuable Method ◽  
Frequent Finding ◽  
Pulmonary Changes

High resolution CT (HRCT) was performed in 24 children (median age 57.9 months) suffering from cystic fibrosis (CF). In 23 patients (one examination unacceptable because of motion artifacts) the most frequent finding was bronchial wall thickening, shown in 21 patients (91%), followed by bronchiectasis in 15 patients (65%). Less frequent findings were mucus plugging and patchy consolidations, which could be demonstrated in 11 patients each (48%). Findings were classified using a CT scoring system and including only irreversible pulmonary changes; a statistically significant correlation with lung function tests (FEV1/FVC; MEF50) could be established. HRCT to date seems to be the most valuable method to determine extent and severity of lung involvement in children with CF and should therefore be routinely used for the staging of this disease.

Contribution of common CFTR variants (M470V, T854, and Q1463) to cystic fibrosis in Tunisia: haplotype analysis

2021 ◽  
Vol 79 (1) ◽  
pp. 63-68
Author(s):  
Malek Nefzi ◽  
Sondess Hadj Fredj ◽  
Rym Dabboubi ◽  
Samia Hamouda ◽  
Neji Tebib ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Haplotype Analysis

scholarly journals Risk factors for Pseudomonas aeruginosa colonization in non-cystic fibrosis bronchiectasis and clinical implications

2021 ◽  
Author(s):  
Wang Chun Kwok ◽  
James Chung-man Ho ◽  
Chi Chun Terence Tam ◽  
Sau Man Mary Ip ◽  
David Chi-Leung Lam
Keyword(s):  
Risk Factors ◽  
Cystic Fibrosis ◽  
Pseudomonas Aeruginosa ◽  
Cross Sectional Study ◽  
Chinese Patients ◽  
Rapid Decline ◽  
Clinical Implications ◽  
Lung Involvement ◽  
Cross Sectional ◽  
Poor Outcomes

Abstract Background: Pseudomonas aeruginosa is one of the commonest bacteria colonizing the airway in patients with non-cystic fibrosis bronchiectasis. Pseudomonas aeruginosa colonization is associated with poor outcomes in patients with bronchiectasis, including rapid decline in lung function, exacerbation frequency and hospitalization.Methods: A cross-sectional study in Queen Mary Hospital, Hong Kong that included 350 Chinese patients with non-cystic fibrosis bronchiectasis to investigate the risk factors for Pseudomonas aeruginosa colonization and clinical implications on disease outcomes.Discussion: Pseudomonas aeruginosa colonization was more commonly found in patients with longer duration of bronchiectasis and those on proton pump inhibitors (PPIs) with adjusted ORs of 1.066 (95% CI = 1.036 – 1.096, p < 0.001) and 2.815 (95% CI = 1.307 – 6.064, p = 0.008) respectively. Patients with Pseudomonas aeruginosa colonization have more extensive lung involvement and higher risks of exacerbation requiring hospitalization with adjusted ORs of 2.445 (95% CI = 1.283 – 4.657, p = 0.007) and 2.745 (95% CI = 1.012 – 7.449, p = 0.047) respectively. Pseudomonas aeruginosa colonization is more common among patients with longer duration of bronchiectasis and those on PPI. Pseudomonas aeruginosa colonization is associated with more extensive lung involvement and higher risks of exacerbation requiring hospitalization.

Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphicCFTR DNA markers

1996 ◽  
Vol 8 (2) ◽  
pp. 149-159 ◽  
Author(s):  
Núria Morral ◽  
Thilo Dörk ◽  
Roser Llevadot ◽  
Violetta Dziadek ◽  
Bernard Mercier ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Dna Markers ◽  
Haplotype Analysis

scholarly journals Identification of a D579G homozygote cystic fibrosis patient with pancreatic sufficiency and minor lung involvement

1999 ◽  
Vol 13 (2) ◽  
pp. 173-173 ◽  
Author(s):  
Luigi Picci ◽  
Marilena Cameran ◽  
Paola Olante ◽  
Franco Zacchello ◽  
Maurizio Scarpa
Keyword(s):  
Cystic Fibrosis ◽  
Cystic Fibrosis Patient ◽  
Lung Involvement
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