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).

NUTRITIONAL COUNSELING OFFERED TO CHILDREN AND ADOLESCENTS WITH DISABILITIES

Objective: To evaluate the nutritional counseling offered to children and adolescents with disabilities in the municipality of Santa Cruz, RN, Brazil. Methods: Observational, crosssectional, population-based study, developed from May to December 2013, with 102 children and adolescents attending a Children’s Rehabilitation Center. We conducted socioeconomic, demographic, health and lifestyle assessments, and evaluated the received nutritional assistance (whether they had received nutritional counseling from any health professional in relation to food and nutrition, how often it occurred and which professional conducted such counseling). Results: Only 37% (n=37) of parents had received some nutritional guidance. Regarding the frequency of counseling, only 11.8% (n=4) of the youngsters received it 7 or more times/year; 23.5% (n=8) received it 2 to 6 times/year; and most (64.7 %, n=22) received it 1 time/year or less. The length of the nutritional counseling was short: the majority (64.7%, n=22) received only one guidance session throughout the whole period attending the institution, and less than 15% (n=5) received counseling for more than six consecutive months. For the majority (73.5%, n=25), the amount of time receiving nutritional guidance has not reached half of the monitoring period. Nutritional counseling was carried out mainly by nutritionists (89.2%, n=33). Conclusion: There was a low frequency of nutritional counseling directed specifically to the disabilities presented by the participants. When such activity was conducted, it occurred irregularly during the participant´s follow-up, only during a short period of time, and lacking connection with the monitoring by the multidisciplinary team.

Evaluation of the Effect of Passive Smoking on Lactoferrin and AST on 12 - 15 Years Old Children and Adolescents

Background: Passive smokers are involuntarily exposed to cigarette or tobacco smoke and as known, inhalation of environmental tobacco smoke is a serious threat. There is little information about the effect of passive smoking on salivary markers and periodontal indices. Objectives: This study investigated the effect of passive smoking on lactoferrin and AST in 12 - 15 years old children and adolescents. Patients and Methods: This case-control analytic correlation type study with no-convenience random sampling method was performed on 160 children aged 12 - 15 who had smokers in their families. The eligible children were divided into two equal groups; 80 cot+ children as case group and 80 cot– children as control group, matched according to age, sex and plaque index. Plaque index was obtained from all subjects. 2 cc unstimulated salivary samples were collected by spitting method. The collected specimens were tested by lactoferrin and AST kits in biochemistry were measured on the day of sampling laboratory. Gingival index Loe and Silness (GI) and Probing Pocket Depth (PPD). Results: Mean and Standard Deviation of PPD and GI was 2.01 ± 0.077 and 1.53 ± 0.055 in experimental group and 1.93 ± 0.073 and 1.49 ± 0.046 in control group respectively (P < 0.001). The Mean and Standard Deviation parameters of lactoferrin and AST, in the experimental group was 38.66 ± 25.15 and 13.45 ± 6.33 and in the control group 10.18 ± 6.82 and 6.53 ± 2.65 group, respectively (P < 0.001). Conclusions: Passive smoking can be effective on inflammatory process of periodontal and salivary biomarkers related to inflammation. Lactoferrin was 11 - 104 in case group and 0.5 - 38 in control group. Aspartat aminotransferase in case group was 2.64 - 30.43 and in control group it was 2.16 - 12.02.