Search results

Sort By:

Limit search:

Cystic fibrosis ? a probable cause of Frederic Chopin?s suffering and death

100%

Majka L., Gozdzik J., Witt M.

Journal of Applied Genetics

2003

vol. 44

issue 1

77-84

Frederic Chopin ? a great Polish composer and pianist ? suffered from a chronic disease. Both during his life and after death physicians disagreed on the subject of Chopin?s diagnosis. His contemporaries accepted the diagnosis of a disease common in the 18th century ? tuberculosis. Description of new clinical entities provoked new dilemmas in the 20th century. In our opinion the most tenable seems to be the diagnosis of cystic fibrosis. In this work we present F. Chopin?s case history and discuss cons and pron for cystic fibrosis as the cause of F. Chopin?s suffering and death.

Effect of genotype on selected clinical features of Polish cystic fibrosis adults

52%

Majka L., Pogorzelski P. A., Pogorzelski A., Mlynarczyk M. W., Mlynarczyk W., Zebrak Z. J., Zebrak J., Rutkiewicz R. E., Rutkiewicz E., Nowicka N. A., Nowicka A., Witt W. M., Witt M.

Journal of Applied Genetics

2001

vol. 42

issue 3

367-377

Cystic fibrosis (CF), the most common autosomal recessive disorder of Caucasians, is caused by the mutations in the gene encoding CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) protein. Until now, approximately 1000 mutations of the CFTR gene have been described. The genotype-phenotype relationships in CF are still not completely understood. This study was undertaken in an attempt to characterise the distribution of CFTR mutations and their effect on selected clinical parameters in a group of Polish CF adults. A total number of 38 adult CF patients (mean age 21.6 ? 6.8); 18 females and 20 males were enrolled in the study. The CFTR gene identification was conducted with the use of PCR and InnoLipa-CF set. The assessed clinical parameters included: age at diagnosis, age, lung function test, X-ray scored in Brasfield score, weight & height. We found that: (1) the genotypes of the studied population were unevenly distributed (65.8% ? genotype deltaF508/M), (2) a high percentage of 3849+10kbC.T was noted, (3) patients homozygous for the deltaF508 mutation were diagnosed significantly earlier and had a lower body mass index, (4) no differences were observed in the patients? length of life or the progression of lung disease. Conclusions: 1. In comparison to other populations, Polish adult CF patients display a relatively higher frequency of mild mutations. 2. Late diagnosis of CF in the studied group may be partially caused by a high percentage of CFTR mutations connected with the mild course of the disease that are difficult to identify. 3. Cystic fibrosis should be more commonly taken into consideration in the differential diagnosis in adult patiens with milder symptoms.

Refine search results

2 Journal of Applied Genetics

1 2003

1 2001

2 Majka L.

2 Witt M.

1 Gozdzik J.

1 Mlynarczyk M. W.

1 Mlynarczyk W.

1 Nowicka A.

1 Nowicka N. A.

1 Pogorzelski A.

1 Pogorzelski P. A.

1 Rutkiewicz E.

1 Rutkiewicz R. E.

1 Witt W. M.

1 Zebrak J.

1 Zebrak Z. J.

Search results

Cystic fibrosis ? a probable cause of Frederic Chopin?s suffering and death

Effect of genotype on selected clinical features of Polish cystic fibrosis adults