Cystic fibrosis mutations and associated haplotypes in Turkish cystic fibrosis patients

Identification of mutations causing cystic fibrosis (CF) in the Turkish population is essential for assessment of the molecular basis of CF in Turkey and the development of strategies for prenatal diagnosis and genetic counseling. Here, we present an updated report of mutations found in the Turkish CF population from an extensive screening study of the entire coding region, including exon-intron boundaries and the promoter region. Cases for which mutations could not be identified were also screened for previously defined large alterations and (TG) mT n-M470V loci. This study revealed a total of 27 different mutations accounting for almost 60% of disease genes in the Turkish population. In this study, we also identified the haplotypes associated with 17 mutations and those associated with unknown mutations. The mutation spectrum of CF in Turkey and its associated haplotypes indicated the presence of a major Mediterranean component in the contemporary Turkish population.published_or_final_versio

Local and systemic reactions during immunotherapy with adsorbed extracts of house dust mite in children

Background: We retrospectively evaluated the incidence of local and systemic reactions to injections of adsorbed extracts of house dust mites (Dermatophagoides pteronyssinus and Dermatophagoides farinae) applied according to a conventional schedule in children

Relation between serum Insulin-like growth factor-I and insulin-like growth factor-binding protein-3 levels, clinical status and growth parameters in prepubertal cystic fibrosis patients

Background: This study aims to determine the relation between anabolic hormones, Insulin-like growth factor-I (IGF-I) and IGF-binding protein-3 (IGFBP-3), growth parameters, and clinical status in prepubertal cystic fibrosis (CF) patients. This prospective study comprises age/sex-matched control subjects and was set in a tertiary care teaching hospital

Prevalence of bronchial asthma and allergic rhinitis in Istanbul school children

The aim of this study was to determine the prevalence of asthma, allergic rhinitis and their related symptoms in Istanbul and to investigate the effect of socioeconomic status on the prevalence of asthma and allergic rhinitis and whether there are differences between the prevalence of childhood asthma in the same and different regions as found in previous studies and our own. The study period was the 1996-1997 school year in three primary schools in Istanbul. For proportional representation of high, middle, and low socioeconomic levels, the schools were selected from three different regions of Istanbul. A translated version of the International Study of Asthma and Allergies in Childhood (ISAAC) was used. The questionnaire was distributed to the parents of 2600 students aged 6-15 years. All of the 2276 children whose parents responded were included in the survey. The overall cumulative and current prevalences of wheezing were 13.7 and 7.2% respectively and the overall cumulative prevalence of allergic rhinitis was 17.6%. There was no statistically significant difference between asthmatics and non-asthmatics by sex, socioeconomic status and passive smoking. Family history of atopy was found to be significantly higher in asthmatics. Although there are differences in the results of studies concerning the prevalence of asthma and allergic rhinitis not only between different countries but also between different regions of the same city, by using a standardized international method, the actual values may be obtained