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

Haemophilus influenzae type b colonization in children in a hospital-based day care center

We sought to assess the effect of day care center (DCC) attendance and parental health care work environment on the prevalence of Haemophilus influenzae type b (Hib) pharyngeal colonization in children in Turkey. Children of health care workers were evaluated by nasopharyngeal culture specimens obtained prior to enrollment at a hospital-based DCC at Cerrahpasa Medical Faculty (CMF-DCC) and then again after 3 months of attendance. A larger cohort from this same DCC was evaluated after 6 months of attendance and compared to a group of children of non-health care workers enrolled in Bahcelievler-DCC. As is standard of care in Turkey, none of these children had received the Hib vaccine. Fifty children of health care workers were evaluated prior to their enrollment and then again after 3 months at CMF-DCC. The incidence of Hib carrier state at enrollment was 4% and increased to 22% after 3 months at the DCC. To assess the affect of parental health care employment on Hib carriage rates, 103 children from CMF-DCC and 40 children of non-medical families at Bahcelievler-DCC were evaluated. Hib carrier state was identified in 40.7 and 47.5% after more than 6 months of attendance at CMF-DCC and Bahcelievler-DCC, respectively. No significant difference was observed between carriage rates of children coming from medical and non-medical families and the average carriage rate was 42.6% when duration of day-care attendance exceeded 6 months. Our results demonstrate that Hib carriage rates are affected by the duration of DCC attendance. Parents' employment in a health care facility does not affect carriage rates