Um caso de microdelecção em 22q11.2, numa doente com esquizofrenia, atraso mental e diabetes

Os autores descrevem o caso de uma doente de 31 anos, do sexo feminino que, aos 26, iniciara um quadro de esquizofrenia, diagnosticada pela DSM-IV e ICD-10. Foi inicialmente tratada com haloperidol, mas após um segundo surto, já com 27 anos, foi-lhe prescrito risperidona. Aos 28 anos, foi-lhe diagnosticada uma diabetes tipo I. Por apresentar várias malformações - consistentes com o síndroma velo-cárdio-facial (SVCF) - os autores decidiram realizar uma análise do cromossoma 22, na região 22q11.2 que está associada ao SVCF e à esquizofrenia. Apurou-se a existência de uma microdeleção em 22q11.2. Os autores discutem implicações clínicas e genéticas deste achado, no que diz respeito à esquizofrenia, síndroma velo-cárdio-facial e diabetes mellitus

Early detection of left ventricular diastolic dysfunction in Chagas' disease

BACKGROUND: Chagas' disease may cause left ventricular diastolic dysfunction and its early detection in asymptomatic patients would allow to stratify the risk and to optimize medical treatment. The aim of this study is to investigate if transmitral Doppler flow can detect early abnormalities of the diastolic left ventricular function in patients during the indeterminate phase of Chagas' disease, in which the electrocardiogram (ECG), chest x-ray and 2-D echocardiogram (2D-echo) are normal. METHODS: a group of 54 patients with Chagas' disease was studied and compared to a control group of 27 subjects of similar age. All were assessed with an ECG, chest X-ray, 2-D echo, and transmitral Doppler flow. RESULTS: both groups had similar values in the 2D-echo. In patients with Chagas' disease, the transmitral Doppler showed a higher peak A velocity (control group: 0.44 m/sec, Chagas group: 0.55 m/sec, p = 0.001), a lower E/A ratio (control group: 1.45, Chagas group: 1.22, p < 0.05), and a lengthening of the deceleration time of early diastolic filling (control: 138.7 ± 26.8 msec, Chagas group: 167.9 ± 34.6 msec, p = 001), thus revealing an early disorder of the diastolic left ventricular function in patients with Chagas' disease. CONCLUSION: in patients with Chagas' disease who are in the indeterminate phase, transmitral Doppler flow allowed to identify early abnormalities of the left ventricular diastolic function, which provide useful clinical information for prognostic stratification and treatment

Variation in helper effort among cooperatively breeding bird species is consistent with Hamilton's Rule.

Investment by helpers in cooperative breeding systems is extremely variable among species, but this variation is currently unexplained. Inclusive fitness theory predicts that, all else being equal, cooperative investment should correlate positively with the relatedness of helpers to the recipients of their care. We test this prediction in a comparative analysis of helper investment in 36 cooperatively breeding bird species. We show that species-specific helper contributions to cooperative brood care increase as the mean relatedness between helpers and recipients increases. Helper contributions are also related to the sex ratio of helpers, but neither group size nor the proportion of nests with helpers influence helper effort. Our findings support the hypothesis that variation in helping behaviour among cooperatively breeding birds is consistent with Hamilton's rule, indicating a key role for kin selection in the evolution of cooperative investment in social birds

Enhanced Leishmania braziliensis Infection Following Pre-Exposure to Sandfly Saliva

Parasites of the genus Leishmania cause a variety of diseases known as leishmaniasis, that are transmitted by bites of female sand flies that, during blood-feeding, inject humans with parasites and saliva. It was shown that, in mice, immunity to sand-fly saliva is able to protect against the development of leishmaniasis. We have investigated, in the present study, whether this finding extends the sand fly species Lutzomyia intermedia, which is responsible for transmission of Leishmania braziliensis, a parasite species able to cause destructive skin lesions that can be fatal if left untreated. We observed that mice injected with sand fly saliva develop a specific immune response against salivary proteins. Most importantly, however, this immune response was unable to protect mice against a challenge infection with L. braziliensis, indicating that exposure to this sand fly saliva is harmful to the host. Indeed, subjects with cutaneous leishmaniasis have a higher immune response against L. intermedia saliva. These findings indicate that the anti-saliva immune response to sand fly saliva plays an important role in the outcome of leishmaniasis caused by L. braziliensis, in both mice and humans, and emphasize possible hurdles in the development of vaccines based on sand fly saliva

Are ant assemblages of Brazilian veredas characterised by location or habitat type?

Wetland areas in the Brazilian Cerrado, known as “veredas”, represent ecosystems formed on sandy soils with high concentrations of peat, and are responsible for the recharge of aquiferous reservoirs. They are currently under threat by various human activities, most notably the clearing of vegetation for Eucalyptus plantations. Despite their ecological importance and high conservation value, little is known about the actual effects of human disturbance on the animal community. To assess how habitat within different veredas, and plantations surrounding them affect ant assemblages, we selected four independent vereda locations, two being impacted by Eucalyptus monoculture (one younger and one mature plantation) and two controls, where the wetland was surrounded by cerrado vegetation. Ant sampling was conducted in May 2010 (dry season) using three complementary methods, namely baits, pitfall traps, and hand collection, in the wetland and in the surrounding habitats. A total of 7,575 ants were sampled, belonging to seven subfamilies, 32 genera and 124 species.Ant species richness and abundance did not differ between vereda locations, but did between the habitats. When impacted by the monoculture, ant species richness and abundance decreased in wetlands, but were less affected in the cerrado habitat. Ant species composition differed between the three habitats and between vereda locations. Eucalyptus plantations had an ant species composition defined by high dominance of Pheidole sp. and Solenopsis invicta, while natural habitats were defined by Camponotus and Crematogaster species. Atta sexdens was strictly confined to native habitats of non-impacted “veredas”. Eucalyptus monocultures require high quantities of water in the early stages, which may have caused a decrease in groundwater level in the wetland, allowing hypogeic ants such as Labidus praedator to colonise this habitat

Human Cellular Immune Response to the Saliva of Phlebotomus papatasi Is Mediated by IL-10-Producing CD8+ T Cells and Th1-Polarized CD4+ Lymphocytes

Cutaneous leishmaniasis affects millions of people worldwide and is caused by protozoa of the genus Leishmania. The parasite is transmitted during sand fly bites. While probing the skin for a blood meal, vectors salivate into the host's skin. Sand fly saliva contains several components that increase hemorrhage and interfere with the host's inflammatory response. Data obtained in mice originally indicate that immunization against saliva protected from leishmaniasis supporting possibility that leishmaniasis could be prevented by a vaccine based on sand fly saliva. Herein we investigated the nature and the importance of the cellular immune response developed against sand fly saliva by individuals at risk of cutaneous leishmaniasis due to Leishmania major. We demonstrated that the immunity against saliva is dominated by the activation of lymphocytes producing a suppressive cytokine called IL-10. These data may preclude the protective effect of sand fly saliva pre-exposure in humans. Further experiments revealed that the production of IL-10 masked the presence of a second kind of lymphocytes producing IFN-γ, a rather protective cytokine. The latter finding highlights the importance of the identification of the proteins activating the latter lymphocytes in order to develop vaccines based on selected proteins from the saliva of sand flies

Evaluation of a 25-Year-Program for the Control of Schistosomiasis Mansoni in an Endemic Area in Brazil

A clinical-epidemiological reevaluation on schistosomiasis mansoni was performed in 2005, in the urban area of a little town, Comercinho, MG, specifically focusing on the inhabitants of the same area in 1981, when a first survey and treatment with oxamniquine were carried out. The surveys included: identification of the intermediary host, census, mapping of the city, socioeconomic survey, stool examination, clinical examination, research dealing with contact with natural waters, and treatment of the positive cases. From a population of 1,474 people studied in 1981, 358 were submitted to stool examination, and 231 were clinically examined. From 1981 to 1992 five specific treatments were performed with oxamniquine and the last one with praziquantel. The results obtained were compared and demonstrated that the prevalence in Comercinho decreased significantly (70.4% to 1.7%), as well as the hepatosplenic form (7% to 1.3%) in 1981 and 2005, respectively. Significant improvement in the life quality (improvement in the housing, professional qualification and basic sanitation) were observed and must be considered important for the schistosomiasis control

Performance of the CMS Cathode Strip Chambers with Cosmic Rays

The Cathode Strip Chambers (CSCs) constitute the primary muon tracking device in the CMS endcaps. Their performance has been evaluated using data taken during a cosmic ray run in fall 2008. Measured noise levels are low, with the number of noisy channels well below 1%. Coordinate resolution was measured for all types of chambers, and fall in the range 47 microns to 243 microns. The efficiencies for local charged track triggers, for hit and for segments reconstruction were measured, and are above 99%. The timing resolution per layer is approximately 5 ns