[The spectrum of mutations in the CFTR gene in patients with cystic fibrosis in Slovakia]. / Spektrum mutácií v géne CFTR u pacientov postihnutých cystickou fibrózou z populácie Slovenska.

Up to present, more than 500 mutations have been described in the CFTR gene of patients affected by cystic fibrosis (CF). The vast majority of them, however, are extremely rare, and in fact, were detected only in the original reported cases. This study is aimed at analysis of 9 known mutations in the CFTR gene in CF patients within the population of Slovakia. The region in question of the human genome was analysed by means of polymerase chain reaction (PCR), digestion with the appropriate restriction enzyme, followed by electrophoretic separation of generated DNA fragments. 7 different mutations were identified on 234 CF-chromosomes, which made up 74.36% of all CF-mutations: delta F508--59.4%, G542X--5.56%, R553X--3.42%, N1303K--2.99%, R347P--1.71%, W1282X--0.85%, and 3849 + 10kb--0.43%. In 57.26% of patients mutations were identified on both homological chromosomes, in 33.33% on one of them, and only in 9.4% of patients there were none of the analysed mutations found. These results provide a good basis for the planning and setting up of an effective strategy for direct DNA-based diagnosis of CF in Slovakia. (Tab. 4, Ref. 19.)

Distribution of 9 common mutations in the CFTR gene in Slovak cystic fibrosis patients.

The distribution of 9 known mutations in the CFTR gene were studied in 234 CF chromosomes originating from 117 unrelated cystic fibrosis (CF) patients from Slovakia, a population which is geographically situated at the borders between Western and Eastern Europe, and Northern and Southern Europe. The following 7 mutations were identified in this sample: delta F508 (59.4%), G542X (5.56%), R553X (3.42%), N1303K (2.99%), R347P (1.71%), W1282X (0.85%), and 3849 + 10 kb (0.43%). These mutations represent 74.36% of all CF mutations, providing a good basis for direct DNA-based diagnosis of CF in Slovakia.

Magnetic resonance imaging in children receiving quinolones: no evidence of quinolone-induced arthropathy. A multicenter survey.

Twenty-nine children with cystic fibrosis (CF) were investigated for quinolone-induced arthropathy. Magnetic resonance imaging (MRI) was performed in 14/14 children treated with ofloxacin or ciprofloxacin and in 10/15 of those never treated with quinolones. The frequency of pathologic MRI findings, concerning cartilage thickness, careful analysis of the cartilage structure, presence of edema, cartilage-bone borderline and the presence of fluid in joints did not show any difference between both groups. Thus the presence of quinolone-induced arthrotoxicity cannot be confirmed in this study.

[The delta F508 mutation which causes cystic fibrosis and its association with closely linked DNA polymorphisms in the Slovak population]. / Mutácia deltaF508 zaprícinujúca cystickú fibrózu a jej asociácia s tesne viazanými polymorfizmami DNA v slovenskej populácii.

Linkage relationships between DNA polymorphism metH/TaqI as well as KM19/PstI and the mutation causing cystic fibrosis (CF) were analyzed in 48 families from Slovakia with th occurrence of CF. The polymorphism metH/TaqI did not show linkage disequilibrium with CF mutation. A pronounced allelic association was however found between CF mutation and KM19/PstI polymorphism. Of the 83 CF chromosomes analyzed, the given mutation was associated with the 6.6 kb allele in 82% of cases, while the rate of this allele in chromosomes without the mutation amounts only to 24%. The value of the standardized disequilibrium coefficient SCD = 0.58. Delta F508 deletion was addressly studied in 25 patients (i.e. 50 CF chromosomes). Of the 50 CF mutations, the given deletion was in 64% (32), while the remaining 36% (18) of mutations were of other, closely not identified types. Delta F508 deletion is in marked allelic association with the 6.6 kb allele of KM19/PstI polymorphism (SCD = 0.68). Between the given allele of KM19/PstI polymorphism and CF mutation no other allelic association was found but with delta F508. (Tab. 6, Fig. 1, Ref. 18).

Care for cystic fibrosis patients in Czechoslovakia.

A long-term study was carried out in a group of 325 patients with cystic fibrosis (CF) aged 6 months to 34.5 years who lived in Czechoslovakia to December 31, 1988. Care for CF patients is concentrated in so called CF centres which are established mainly by children's clinics. The patients have been systematically examined both clinically and in the laboratory. There is a close cooperation with the department of rehabilitation. Special attention is paid to psychological and social problems of patients and their families. Care for patients older than 18 years is provided in the departments of internal medicine and respiratory diseases for adults. Due to a complex care coordinated by CF centres the mean age of surviving CF patients has kept on increasing and the quality of their life has been improving.