The Environmental Theme in Representations and Practices of Family Health Professionals in the Municipality of Manaus - State of Amazonas/Brazil

There are abundant scientific evidences showing that the increased risk of exposure to diseases is a consequence of anthropogenic environmental changes. In the Family Health Strategy, tasks with a clear environmental focus are prescribed, indicating to the professional teams that they should consider these aspects in their health practices. The objective of this research was to study representations and practices of Family Health Professionals of Manaus - State of Amazonas, Northern Brazil - about environmental issues and their interface with public health. Data were collected by means of participant observation and semi-structured interviews, and the qualitative analysis was carried out through Content Analysis and Methodological Triangulation. The results showed that most professionals do not understand the environment in a systemic way, even though they recognize the great impact that environmental factors have on human health; as interventions, the educational practices follow traditional methodologies and focus on blaming the individual and on the simple transmission of knowledge; the professionals' relationship with the community is limited to personal and/or collective care. It is concluded that in order to the Family Health Strategy to contribute to restructure the system, it is essential to redirect this new health policy model so that it becomes effective as a social and environmental practice.

Different approaches for dealing with rare variants in family-based genetic studies: application of a Genetic Analysis Workshop 17 problem

Rare variants are becoming the new candidates in the search for genetic variants that predispose individuals to a phenotype of interest. Their low prevalence in a population requires the development of dedicated detection and analytical methods. A family-based approach could greatly enhance their detection and interpretation because rare variants are nearly family specific. In this report, we test several distinct approaches for analyzing the information provided by rare and common variants and how they can be effectively used to pinpoint putative candidate genes for follow-up studies. The analyses were performed on the mini-exome data set provided by Genetic Analysis Workshop 17. Eight approaches were tested, four using the trait’s heritability estimates and four using QTDT models. These methods had their sensitivity, specificity, and positive and negative predictive values compared in light of the simulation parameters. Our results highlight important limitations of current methods to deal with rare and common variants, all methods presented a reduced specificity and, consequently, prone to false positive associations. Methods analyzing common variants information showed an enhanced sensibility when compared to rare variants methods. Furthermore, our limited knowledge of the use of biological databases for gene annotations, possibly for use as covariates in regression models, imposes a barrier to further research.

RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in a novel MEN2 family

Hirschsprung disease is a congenital form of aganglionic megacolon that results from cristopathy. Hirschsprung disease usually occurs as a sporadic disease, although it may be associated with several inherited conditions, such as multiple endocrine neoplasia type 2. The rearranged during transfection (RET) proto-oncogene is the major susceptibility gene for Hirschsprung disease, and germline mutations in RET have been reported in up to 50% of the inherited forms of Hirschsprung disease and in 15-20% of sporadic cases of Hirschsprung disease. The prevalence of Hirschsprung disease in multiple endocrine neoplasia type 2 cases was recently determined to be 7.5% and the cooccurrence of Hirschsprung disease and multiple endocrine neoplasia type 2 has been reported in at least 22 families so far. It was initially thought that Hirschsprung disease could be due to disturbances in apoptosis or due to a tendency of the mutated RET receptor to be retained in the Golgi apparatus. Presently, there is strong evidence favoring the hypothesis that specific inactivating haplotypes play a key role in the fetal development of congenital megacolon/Hirschsprung disease. In the present study, we report the genetic findings in a novel family with multiple endocrine neoplasia type 2: a specific RET haplotype was documented in patients with Hirschsprung disease associated with medullary thyroid carcinoma, but it was absent in patients with only medullary thyroid carcinoma. Despite the limited number of cases, the present data favor the hypothesis that specific haplotypes not linked to RET germline mutations are the genetic causes of Hirschsprung disease.

Deltocyathiidae, an early-diverging family of Robust corals (Anthozoa, Scleractinia)

Over the last decade, molecular phylogenetics has called into question some fundamental aspects of coral systematics. Within the Scleractinia, most families composed exclusively by zooxanthellate species are polyphyletic on the basis of molecular data, and the second most speciose coral family, the Caryophylliidae (most members of which are azooxanthellate), is an unnatural grouping. As part of the process of resolving taxonomic affinities of caryophylliids', here a new Robust' scleractinian family (Deltocyathiidae fam. n.) is proposed on the basis of combined molecular (CO1 and 28S rDNA) and morphological data, accommodating the early-diverging clade of traditional caryophylliids (represented today by the genus Deltocyathus). Whereas this family captures the full morphological diversity of the genus Deltocyathus, one species, Deltocyathus magnificus, is an outlier in terms of molecular data, and groups with the Complex coral family Turbinoliidae. Ultrastructural data, however, place D.magnificus within Deltocyathiidae fam. nov. Unfortunately, limited ultrastructural data are as yet available for turbinoliids, but D.magnificus may represent the first documented case of morphological convergence at the microstructural level among scleractinian corals. Marcelo V.Kitahara, Centro de Biologia Marinha, Universidade de SAo Paulo, SAo SebastiAo, S.P. 11600-000, Brazil. E-mail:kitahara@usp.br