Perception of HIV among pregnant women in the public health system in two municipalities of the state of São Paulo

Aim: To verify the knowledge of pregnant women on mother-to-child transmission (MTCT) of HIV, the availability of HIV tests in the public health system and counseling on the disease in two cities, Birigui and Piacatu, São Paulo State, Brazil. Methods: This is a descriptive and exploratory research using as samples, the files of 141 pregnant women attending the Basic Health Unit. Data were collected by survey, followed by a semi-structured questionnaire with open and closedend questions. Data were analyzed on Epi Info™ 7.1.4, by the Chi-square and Exact Fisher tests. Results: From all the 141 pregnant women, 119 were interviewed and 92.4% reported to have been informed about the need of taking the HIV test during prenatal exams. However, only 5.9% were counseled and 20.2% reported to be aware of how to prevent MTCT of HIV, usually mentioning lactation suppression and prescribed medication. The association between the knowledge about how to prevent MTCT of HIV and some social, demographic and economic variables like ethnics, educational level, home location, occupation, age and parenting was not verified. Conclusions: It is necessary to advise pregnant women on the importance of taking the HIV test regardless of the examination outcome, which was not observed in the cities where the research was conducted.

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.