Molecular diagnosis of Huntington disease in Brazilian patients

Huntington disease (HD) is a progressive neurodegenerative disorder with autosomal dominant inheritance, characterized by choreiform movements and cognitive impairment. Onset of symptoms is around 40 years of age and progression to death occurs in approximately 10 to 15 years from the time of disease onset. HD is associated with an unstable CAG repeat expansion at the 5' and of the IT15 gene. We have genotyped the CAG repeat in the IT15 gene in 44 Brazilian individuals (42 patients and 2 unaffected family members) belonging to 34 unrelated families thought to segregate HD. We found one expanded CAG allele in 32 individuals (76%) belonging to 25 unrelated families. In these HD patients, expanded alleles varied from 43 to 73 CAG units and normal alleles varied from 18 to 26 CAGs. A significant negative correlation between age at onset of symptoms and size of the expanded CAG allele was found (r=0.6; p=0.0001); however, the size of the expanded CAG repeat could explain only about 40% of the variability in age at onset (r2=0.4). In addition, we genotyped 25 unrelated control individuals (total of 50 alleles) and found normal CAG repeats varying from 16 to 33 units. The percentage of heterozigocity of the normal allele in the control population was 88%. In conclusion, our results showed that not all patients with the HD phenotype carried the expansion at the IT15 gene. Furthermore, molecular diagnosis was possible in all individuals, since no alleles of intermediate size were found. Therefore, molecular confirmation of the clinical diagnosis in HD should be sought in all suspected patients, making it possible for adequate genetic counseling.

Mixed rain forest in southeastern Brazil: tree species regeneration and floristic relationships in a remaining stretch of forest near the city of Itaberá, Brazil

The aim of this work was to evaluate the floristic composition, richness, and diversity of the upper and lower strata of a stretch of mixed rain forest near the city of Itaberá, in southeastern Brazil. We also investigated the differences between this conservation area and other stretches of mixed rain forest in southern and southeastern Brazil, as well as other nearby forest formations, in terms of their floristic relationships. For our survey of the upper stratum (diameter at breast height [DBH] > 15 cm), we established 50 permanent plots of 10 × 20 m. Within each of those plots, we designated five, randomly located, 1 × 1 m subplots, in order to survey the lower stratum (total height > 30 cm and DBH < 15 cm). In the upper stratum, we sampled 1429 trees and shrubs, belonging to 134 species, 93 genera, and 47 families. In the lower stratum, we sampled 758 trees and shrubs, belonging to 93 species, 66 genera, and 39 families. In our floristic and phytosociological surveys, we recorded 177 species, belonging to 106 genera and 52 families. The Shannon Diversity Index was 4.12 and 3.5 for the upper and lower strata, respectively. Cluster analysis indicated that nearby forest formations had the strongest floristic influence on the study area, which was therefore distinct from other mixed rain forests in southern Brazil and in the Serra da Mantiqueira mountain range.

Lianas da estação ecológica do Noroeste Paulista, São José do Rio Preto/Mirassol, SP, Brasil

Lianas are characteristic, abundant and ecologically important members of tropical forest but they have been neglected in floristics and phytossociological studies. This work presents a floristic survey of the lianas species at Estação Ecológica do Noroeste Paulista (EENP), and a comparison of the list of species recorded in this work with those reported for other fragments of São Paulo state. The EENP (20º48'36'' S and 49º22'50'' W) is at 468 m of altitude and comprises an area of 168,43 ha, divided into three fragments of vegetation. Samples of lianas were collected in the interior and along the edges of the forest fragments. It was identified 105 species: 99 Magnoliopsida (60 genera and 22 families); six Liliopsida (three genera and three families). The richest families in species comprised 59% of the total of lianas sampled. The dendrogram of similarity showed a low similarity between the forest situated in the littoral (Atlantic Forest) and those located in the interior of the state of São Paulo. Some other authors, also analysing the similarity of forest of the interior and Atlantic Forest of São Paulo state, but considering only the trees reported similar result.

O Complexo Vegetacional da Zona Litorânea no Ceará: Pecém, São Gonçalo do Amarante

Due to its geographical location, the northeastern Coast of Brazil (Litoral Setentrional do Nordeste - LSN) is a hotter and drier climate than the eastern coast. In addition, because of its proximity to caatinga and cerrado, the LSN contains species from these vegetation biomes and from the restinga on the coast, which comprise different plant formations and creates a vegetation complex. Despite the great importance of this ecotone, there are few studies about its flora. The objective of this work was to contribute to what is known about the floristic and phytosociological composition of this region. We made a floristic survey in the area (between 2007 and 2011), consulted herbaria data from the region and made a phytosociological study in a stretch of coastal semideciduous forest (mata de tabuleiro). The study recorded 382 plant species from 96 families. In the phytosociological survey (0.32 ha) we recorded 2,970 individuals and 52 species. The most abundant plants surveyed were the trees Manilkara triflora, Chamaecrista ensiformis and Guapira nitida and the shrubs Cordiera sessilis and Maytenus erythroxyla (average height 3.8 m, average diameter 6.2 cm, basal area 39.28 m²/ha). The local flora includes floristic elements of caatinga, cerrado and restinga, corroborating the idea that the plant community of the coastal region of Ceará has an ecotonal nature.

As atividades ludicas e a criança com paralisia cerebral : o jogo, o brinquedo e a brincadeira no cotidiano da criança e da familia

Universidade Estadual de Campinas. Faculdade de Educação Física