FRAXA screening in Brazilian institutionalized individuals with nonspecific severe mental retardation

Individuals with mental disabilities are a heterogeneous group, mainly when we consider the etiology of mental retardation (MR). Recent advances in molecular genetics techniques have enabled us to unveil more about the molecular basis of several genetic syndromes associated with MR. In this study, we surveyed 85 institutionalized individuals with severe MR, 38 males and 47 females, by two molecular techniques, to detect CGG amplifications in the FMR1 gene. No FRAXA mutations were found in the FMR1 gene, reinforcing the low prevalence of Fragile X syndrome among institutionalized individuals with severe MR. We considered the PCR protocol used adequate for screening males with mental retardation of unknown etiology. The use of the Southern blot is still necessary for the decisive diagnosis of the Fragile X syndrome. To exclude chromosomal abnormalities associated with MR as a possible cause of the phenotype in these individuals, G-banded chromosome analysis was performed in all patients and 7.3% of chromosomal aberrations were found. Our results are similar to those reported previously and point to the necessity of expanding the molecular investigation toward other causes of MR, such as subtle chromosomal rearrangements, as suggested recent by a combination of fluorescence in situ hybridization (FISH) and PCR studies.     

Evidence for diet partitioning among three coexisting native freshwater fishes in South Africa's Cape Fold Ecoregion

The partitioning of limited resources commonly explains how different species can coexist within the same ecological community. In this 2010 study, the diets of three coexisting freshwater fishes (Cape galaxias Galaxias zebratus, n = 27; Cape kurper Sandelia capensis, n = 60; Breede River redfin Pseudobarbus burchelli, n = 77) were characterised and compared in three headwater streams in South Africa's Cape Fold Ecoregion using gut contents and stable isotope analyses. These data were analysed to ascertain whether the three species exploit distinct trophic niches. Both approaches provided evidence that these species occupy different trophic niches, though with some overlap. However, dietary differences among sites were not consistent and were probably influenced by site-specific factors like resource availability. Pseudobarbus burchelli had a broader niche breadth at Tierkloof Stream than the other two species, but not at Waaihoek or Tierstel Streams. Our results also suggest that P. burchelli consumed a more omnivorous diet than do the other two species, whereas S. capensis occupied a higher trophic position than the other two species and consumed vertebrates. Our findings suggest that these species occupy non-equivalent feeding niches in Cape Fold Ecoregion headwater streams, and that diet partitioning might facilitate their coexistence in these systems.     

L-Homocysteine and L-homocystine stereospecifically induce endothelial nitric oxide synthase-dependent lipid peroxidation in endothelial cells

Atherothrombotic cardiovascular disease associated with hyperhomocysteinemia has been proposed to result, at least in part, from increased vascular oxidative stress. Here we characterize one mechanism by which homocyteine may induce a vascular cell type-specific oxidative stress. Our results show that L-homocysteine at micromolar levels stereospecifically increases lipid peroxidation in cultured endothelial cells, but not in vascular smooth muscle cells or when medium is incubated in the absence of cells. Consistent with these observations, homocysteine also increases the formation of intracellular reactive oxygen species. The pro-oxidant effect of homocysteine can be fully replicated by an equivalent concentration of homocystine (i.e., an oxidized form of homocysteine), but not with cysteine or glutathione. Homocyst(e)ine-dependent lipid peroxidation is independent of H(2)O(2) and alterations in glutathione peroxidase activity, but dependent on superoxide. Mechanistically, the pro-oxidant effect of homocysteine appears to involve endothelial nitric oxide synthase (eNOS), as it is blocked by the eNOS inhibitor L-N(G)-nitroarginine methyl ester. Thus, homocyst(e)ine actively promotes oxidative stress in endothelial cells via an eNOS-dependent mechanism.     

Inheritance of fertility in broiler chickens

Background

The fertility of a chicken''s egg is a trait which depends on both the hen that lays the egg and on her mate. It is also known that fertility of an individual changes over the laying period.

Methods

Longitudinal models including both random genetic and permanent environmental effects of both the female and her male mate were used to model the proportion of fertile eggs in a pedigree broiler population over the ages 29-54 weeks.

Results

Both the male and the female contribute to variation in fertility. Estimates of heritability of weekly records were typically 7% for female and 10% for male contributions to fertility. Repeatability estimates ranged from 24 to 33%, respectively. The estimated genetic variance remained almost constant for both sexes over the laying period and the genetic correlations between different ages were close to 1.0. The permanent environment components increased substantially towards the end of the analyzed period, and correlations between permanent environment effects at different ages declined with increasing age difference The heritability of mean fertility over the whole laying period was estimated at 13% for females and 17% for males. A small positive correlation between genetic effects for male and female fertility was found.

Conclusion

Opportunities to improve fertility in broiler stocks by selection on both sexes exist and should have an impact throughout the laying period.     

The association between sociodemographic,hormonal, tubo-ovarian factors and bacterial count in Chlamydia and Mycoplasma infections with infertility

Aim: To determine if there is an association between the Chlamydia and Mycoplasma infections with socio-demographic and clinical factors, and also with infertility. Methods: We conducted a study on 100 infertile married women and 100 control group, and collected data on the socio-demographic, hormonal and tubo-ovarian factors. The results of the endocervical swabs were analyzed for Mycoplasma and Chlamydia infection, the bacterial counts were also determined. Results: The percentage positivity to infection was significantly more among the infertile group compared to the control group, and also significantly more among the age group <30 years old. The positivity for infection with Chlamydia and/or Mycoplasma was significantly correlated with age, history of irregular menstruation, and history of previous abortion. Further sub-analysis of the infertile group showed that positivity to Chlamydia and/or Mycoplasma infection was significantly correlated to hormonal factors, ovarian factors, irregular menstruation, and previous abortion. Regression analysis showed that hormonal, ovarian factors, and irregular menstruation were the most significant factors in the positivity to Chlamydia and Mycoplasma infection. Bacterial count was significantly correlated with age, history of irregular menstruation, and history of previous abortion. Conclusion: Infection to Chlamydia and Mycoplasma is associated to younger age (?30 years old), and occurs in the infertile women. There is an interplay between infection in younger women, irregular menstruation, hormonal, and tubo-ovarian factors with infertility. Bacterial count was significantly correlated with age, history of irregular menstruation, and history of previous abortion.     

Anthropogenic Landscape in Southeastern Amazonia: Contemporary Impacts of Low-Intensity Harvesting and Dispersal of Brazil Nuts by the Kayapó Indigenous People

Brazil nut, the Bertholletia excelsa seed, is one of the most important non-timber forest products in the Amazon Forest and the livelihoods of thousands of traditional Amazonian families depend on its commercialization. B. excelsa has been frequently cited as an indicator of anthropogenic forests and there is strong evidence that past human management has significantly contributed to its present distribution across the Amazon, suggesting that low levels of harvesting may play a positive role in B. excelsa recruitment. Here, we evaluate the effects of Brazil nut harvesting by the Kayapó Indigenous people of southeastern Amazonia on seedling recruitment in 20 B. excelsa groves subjected to different harvesting intensities, and investigated if management by harvesters influences patterns of B. excelsa distribution. The number of years of low-intensity Brazil nut harvesting by the Kayapó over the past two decades was positively related to B. excelsa seedling density in groves. One of the mechanisms behind the higher seedling density in harvested sites seems to be seed dispersal by harvesters along trails. The Kayapó also intentionally plant B. excelsa seeds and seedlings across their territories. Our results show not only that low-intensity Brazil nut harvesting by the Kayapó people does not reduce recruitment of seedlings, but that harvesting and/or associated activities conducted by traditional harvesters may benefit B. excelsa beyond grove borders. Our study supports the hypothesis that B. excelsa dispersal throughout the Amazon was, at least in part, influenced by indigenous groups, and strongly suggests that current human management contributes to the maintenance and formation of B. excelsa groves. We suggest that changes in Brazil nut management practices by traditional people to prevent harvesting impacts may be unnecessary and even counterproductive in many areas, and should be carefully evaluated before implementation.     

Candida riodocensis and Candida cellae, two new yeast species from the Starmerella clade associated with solitary bees in the Atlantic rain forest of Brazil

Two new ascomycetous yeast species belonging to the Starmerella clade were discovered in nests of two solitary bee species in the Atlantic rain forest of Brazil. Candida riodocensis was isolated from pollen-nectar provisions, larvae and fecal pellets of nests of Megachile sp., and Candida cellae was found in pollen-nectar provisions of Centris tarsata. Analysis of the sequences of the D1/D2 large-subunit ribosomal DNA showed that C. riodocensis is phylogenetically related to C. batistae, and the closest relative of C. cellae is C. etchellsii. The type strains are C. riodocensis UFMG-MG02 (=CBS 10087(T) = NRRL Y-27859(T)) and C. cellae UFMG-PC04 (=CBS 10086(T) = NRRL Y-27860(T)).     

Partitioning seasonal time: interactions among size, foraging activity and diet in leaf-litter frogs

This study investigates hypotheses about partitioning of food resources among all species and several size classes in an assemblage of diurnal leaf-litter frogs in central Amazonia. All species in this assemblage change the type and size of prey as they grow. An ordination of diet composition was significantly associated with frog size and species-specific behaviour. However, a partial Mantel analysis indicated that species explained about 1.5 times more of the variation in diet overlap between individuals than frog size. Diet and foraging activity are correlated in juveniles, but not in adults, and this result holds whether species are considered as statistically independent observations or whether relationships are analysed using phylogenetically independent contrasts. This study showed that the partitioning of food resources between species changes with the population size structures. Thus, intraspecific and interspecific changes in diet, coupled with different patterns of juvenile recruitment, cause diet segregation among species due to temporal segregation of equivalent size classes. Received: 25 August 1997 / Accepted: 1 April 1998