The evaluation of late sequelae of tetanus infection.

Tetanus is still an important cause of morbidity and mortality in developing countries. Fifty two patients with tetanus were admitted within a 15 year period to our hospital, and 24 of them died. The remaining cases were called for re-evaluation 3-13 years after the infection. Only 10 cases were admitted again, and 6 of them recovered from neonatal tetanus. Their neurological examinations were unremarkable with 5 of them having mild mental retardation. Their EEG's were normal except for one case who had epileptic focus. Their visual and brainstem evoked potentials (VEP, BAEP) were measured and they were in normal ranges. Their results were compared with the results of a control group which consisted of 9 healthy children of matched age and sex.

Cystic fibrosis patients from the Black Sea region: the 1677delTA mutation.

A 2 bp deletion in exon 10 of the CFTR gene, 1677delTA, which is very rare among CF chromosomes worldwide, was found to be a relatively common cause of cystic fibrosis in countries located in the region of the Black Sea. The frequency of the mutation was compared among cystic fibrosis patients from several populations, namely Bulgarians, Turks, Greek-Cypriots, Georgians, and Russians. The deletion is most common among Georgian CF patients and gradually declines in frequency in neighbouring populations. It is invariably related to a common polymorphic haplotype which is rare among normal chromosomes in Bulgaria but was found to be common in Turkey. The geographic gradient in the frequency of the mutation, along with findings on polymorphic haplotype distribution, suggest that the mutation is relatively young in evolutionary terms and spread as the result of west and south-bound migrations originating from Georgia. The 1677delTA mutation is related to a severe clinical phenotype with a high early mortality rate among homozygotes and possibly to an increased risk of meconium ileus.

Molecular genetic analysis of Turkish cystic fibrosis patients.

The cystic fibrosis (CF) gene was recently cloned and a three basepair deletion removing phenylalanine 508 from the coding region was identified as the mutation on the majority of cystic fibrosis chromosomes. The frequency of this mutation varies among different geographic locations. In this study we analysed 25 Turkish families and have found the relative frequency of the delta F508 (DF508) mutation to be 20.37%. This is similar to that reported in other Middle Eastern countries and contrasts with the considerably higher frequencies encountered in Northern Europe and North America. Molecular analysis of the two nucleotide binding folds (NBFs) of the cystic fibrosis transmembrane conductance regulator (CFTR) gene with direct sequencing, has also shown that the other defined mutations in these regions of the gene do not occur in the CF patients from the Turkish population. One patient presenting with severe clinical features was determined to be a compound heterozygote for the mutations delta F508/1677delTA.