Molecular analysis of exons 8, 9 and 10 of the fibroblast growth factor receptor 2 (FGFR2) gene in two families with index cases of Apert Syndrome

Introduction: Apert syndrome (AS) is a craniosynostosis condition caused by mutations in the Fibroblast Growth Factor Receptor 2 (FGFR2) gene. Clinical features include cutaneous and osseous symmetric syndactily in hands and feet, with variable presentations in bones, brain, skin and other internal organs. Methods: Members of two families with an index case of Apert Syndrome were assessed to describe relevant clinical features and molecular analysis (sequencing and amplification) of exons 8, 9 and 10 of FGFR2 gen. Results: Family 1 consists of the mother, the index case and half -brother who has a cleft lip and palate. In this family we found a single FGFR2 mutation, S252W, in the sequence of exon 8. Although mutations were not found in the study of the patient affected with cleft lip and palate, it is known that these diseases share signaling pathways, allowing suspected alterations in shared genes. In the patient of family 2, we found a sequence variant T78.501A located near the splicing site, which could interfere in this process, and consequently with the protein function.

Parental views of antibiotic use in children with upper respiratory tract infections in Jordan

Purpose: To assess the knowledge, attitudes and practices of parents towards antibiotics use for upper respiratory tract infections (URTIs) in Jordan. Methods: A cross-sectional study was carried out at 10 private outpatients’ pediatric clinics across Amman-Jordan from September to December 2013. During the study period, 1329 parents of young children who fulfilled the inclusion criteria and agreed to participate were interviewed, and completed a validated structured questionnaire. Results: A large proportion of parents (903, 68 %) believed that weather change was the main cause of acute URTIs in their children. Although 1098 (82.8 %) of parents were aware that the recurrent use of antibiotics leads to a decrease in effectiveness due to bacterial resistance, 859 (64.6 %) of the respondents reported that they would give antibiotics without prescription. Fathers (135, 40.2 %), were significantly more aware that URTIs follow its natural course without antibiotic administration compared to mothers (N = 327, 32.9 %), respectively (p = 0.005). Conclusion: There is a lack of adequate parental knowledge concerning the use and misuse of antibiotics in children in Jordan. National publicity campaign should be mounted to improve awareness. Furthermore, existing laws should be enforced to prevent parents from purchasing antibiotics over-thecounter (OTC).