In order to contribute to knowledge of the epidemiology of American cutaneous leishmaniasis (ACL) among indigenous people living in sylvatic regions, we studied the sand fly fauna collected in areas of disease transmission in the Brazilian Amazon. Our two datasets reported here are comprised of occurrence data for sand flies from the Suruwaha Indigenous Land in the state of Amazonas collected between 2012-1013, and the Wajãpi Indigenous Land in the state of Amapá collected between 2013-2014. Sand flies were collected using unbaited CDC-like light traps at various sites within each study area and were identified to species-level by taxonomists with expertise in Amazonian fauna. A total of 4,646 records are reported: 1,428 from the Suruwaha and 3,218 from the Wajãpi. These records will contribute to a better understanding of ACL transmission dynamics, as well as the distribution of insect vectors, in these areas.

Resumo Este artigo resulta da pesquisa etnográfica realizada com mulheres negras oriundas de San Basilio de Palenque, uma comunidade negra localizada no caribe colombiano. São mulheres negras que trabalham vendendo diversos tipos de doces nos territórios colombianos e em países fronteiriços. O trabalho acompanha etnograficamente a circulação das palenqueras e seus doces com o intuito de refletir sobre as dinâmicas, os deslocamentos, as interações e os significados desta atividade em termos das relações de raça, gênero e trabalho. Ao encontrarem no universo dos doces um espaço de dignidade social, mesmo afirmando e vivenciando nos seus corpos os efeitos prejudiciais para a saúde - isto é, mesmo reconhecendo que os doces são um trabalho que pode matar, e que as torna “escravas” -, elas manifestam valorações e emoções positivas sobre o seu exercício laboral. Esse duplo significado do trabalho com os doces permeia as descrições desse artigo. Este ofício oferece uma estratégia marginal e ambígua que lhes permite sobreviver e promover a sua mobilidade social, sobretudo através dos ganhos materiais que destinam à educação formal de seus filhos, e da sensação de que essa mesma estratégia marginal, mesmo sendo dura, lhes permite autonomia e dignidade.

Abstract This article is the result of ethnographic research carried out with black women from San Basilio de Palenque, a black community located in the Colombian Caribbean. These women work as peddlers of different types of sweets in Colombian territories and neighboring countries. My ethnography followed the movement of Palenquera women who circulate with sweets, in order to examine the dynamics, movements, interactions and meanings of this activity in terms of race, gender and work relations. The women find social dignity in the universe of sweets, despite affirming and experiencing harmful effects on their bodies - that is, despite recognizing that peddling sweets is work that can kill, and that makes them “slaves” - and express positive valuations and emotions about the work. This dual meaning of working with sweets permeates the descriptions presented in this article. The trade offers a marginalized and ambiguous strategy that allows them to survive and promote their social mobility, especially by investing the material gains in the formal education of their children, and the sense that this marginal strategy, although it is difficult, provides them autonomy and dignity.

Resumo: O teatro tem sido usado como estratégia de educação e divulgação da ciência em museus. Neste artigo, analisamos duas atividades teatrais oferecidas pelo Museu Ciência e Vida, de Duque de Caxias (RJ). Com base em entrevistas e questionários, verificamos que os visitantes consultados têm familiaridade com o teatro, embora sejam frequentadores esporádicos desses espaços. Aqueles com menos acesso a programas culturais, envolvimento prévio com as temáticas abordadas e cujos filhos se engajaram na atividade tenderam a uma recepção positiva da mesma. Quando a atividade não atraía a criança ou a expectativa em relação a ela era diferente da vivenciada, a tendência foi de insatisfação. Independentemente das opiniões colhidas, vimos que as atividades despertaram no público reações que seriam dificilmente provocadas por atividades tradicionais do museu. Por este e outros motivos, defendemos a interação entre ciência e teatro como uma estratégia instigante e diferenciada de educação e divulgação da ciência.

Abstract: Theater has been used as a strategy for science education and communication in museums. In this article, we analyze two theatrical activities offered by the Museum of Science and Life, located at Duque de Caxias (RJ). Based on interviews and questionnaires, we found that the visitors consulted are familiar with the theater, although they are not frequent visitors. Those with less access to cultural programs, previous involvement with the topics addressed and whose children engaged in the activity tended to receive it positively. When the activity did not attract the child in the group or the expectation it raised was different from that expected, the tendency was dissatisfaction. Regardless of the opinions gathered, we observed that the activities aroused public reactions that would be difficult to provoke by traditional museum activities. Thus, we advocate the interaction between science and theater as a differentiated strategy for science education and communication.

Abstract Deletion-induced hemizygosity may unmask deleterious autosomal recessive variants and be a cause of the phenotypic variability observed in microdeletion syndromes. We performed complete exome sequencing (WES) analysis to examine this possibility in a patient with 1p13.2 microdeletion. Since the patient displayed clinical features suggestive of Noonan Syndrome (NS), we also used WES to rule out the presence of pathogenic variants in any of the genes associated with the different types of NS. We concluded that the clinical findings could be attributed solely to the 1p13.2 haploinsufficiency. Retrospective analysis of other nine reported patients with 1p13.2 microdeletions showed that six of them also presented some characteristics of NS. In all these cases, the deleted segment included the NRAS gene. Gain-of-function mutations of NRAS gene are causally related to NS type 6. Thus, it is conceivable that NRAS haploinsufficiency and gain-of-function mutations may have similar clinical consequences. The same phenomenon has been described for two other genes belonging to the Ras/MAPK pathway: MAP2K2 and SHOC2. In conclusion, we here report genotype-phenotype correlations in patients with chromosome 1p13.2 microdeletions and we propose that NRAS may be a critical gene for the NS characteristics in the patients.

RESUMO Objetivo: descrever as alterações cromossômicas em pacientes com retardo mental (RM) pela análise do cariótipo com bandas G. Método: foi realizado um estudo retrospectivo dos resultados de cariótipo com bandas G de 369 pacientes em investigação de RM. A partir dos rearranjos estruturais encontrados, foram levantadas todas as regiões cromossômicas envolvidas nos pontos de quebra e elas foram comparadas com a literatura para RM e bancos de dados. Resultados: foram identificados 338 (91,6%) casos normais e 31 (8,4%) com algum tipo de alteração cromossômica. Dentre os casos alterados, 21 pacientes (67,8%) foram identificados com alterações cromossômicas estruturais, 9 (29%) com alterações numéricas e 1 (3,2%) com alteração numérica e estrutural. Conclusão: as alterações cromossômicas estruturais foram aquelas observadas com maior frequência. O cariótipo com bandas G contribui para a investigação das causas de RM, mostrando que essa técnica pode ser útil como uma primeira triagem dos pacientes. No entanto, técnicas mais resolutivas como o array based comparative genomic hibridization (aCGH) e o multiplex ligation dependent probe amplification (MLPA) permitem detectar alterações submicroscópicas comumente associadas ao RM.

SUMMARY Objective: To describe the chromosomal alterations in patients with mental retardation (MR) using G-banding karyotype analysis. Method: A retrospective study of the results G-banding karyotype analysis of 369 patients investigated for MR was performed. Based on the structural rearrangements found, the authors searched all chromosomal regions related with breakpoints, and these were compared with the literature on MR and databases. Results: 338 (91.6%) normal cases, and 31 (8.4%) with some type of chromosomal abnormality were identified. Among the altered cases, 21 patients (67.8%) were identified with structural chromosomal alterations, nine (29%) with numerical alterations, and one (3.2%) with numerical and structural alterations. Conclusion: Structural chromosomal abnormalities were observed more frequently in this study. G-banding karyotyping contributes to the investigation of the causes of MR, showing that this technique can be useful for initial screening of patients. However, higher resolution techniques such as array based comparative genomic hybridization (aCGH) and multiplex ligation-dependent probe amplification (MPLA) can detect submicroscopic alterations commonly associated with MR.

β-tubulins are structural components of microtubules and the targets of benzimidazole fungicides used to control many diseases of agricultural importance. Intron polymorphisms in the intron-rich genes of these proteins have been used in phylogeographic investigations of phytopathogenic fungi. In this work, we sequenced 2764 nucleotides of the β-tubulin gene (Pp tubB) in samples of Phakopsora pachyrhizi collected from seven soybean fields in Brazil. Pp tubB contained an open reading frame of 1341 nucleotides, including nine exons and eight introns. Exon length varied from 14 to 880 nucleotides, whereas intron length varied from 76 to 102 nucleotides. The presence of only four polymorphic sites limited the usefulness of Pp tubB for phylogeographic studies in P. pachyrhizi. The gene structures of Pp tubB and orthologous β-tubulin genes of Melampsora lini and Uromyces viciae-fabae were highly conserved. The amino acid substitutions in β-tubulin proteins associated with the onset of benzimidazole resistance in model organisms, especially at His6, Glu198 and Phe200, were absent from the predicted sequence of the P. pachyrhizi β-tubulin protein.

Phakopsora pachyrhizi has dispersed globally and brought severe economic losses to soybean growers. The fungus has been established in Brazil since 2002 and is found nationwide. To gather information on the temporal and spatial patterns of genetic variation in P. pachyrhizi , we sequenced the nuclear internal transcribed spacer regions (ITS1 and ITS2). Total genomic DNA was extracted using either lyophilized urediniospores or lesions removed from infected leaves sampled from 26 soybean fields in Brazil and one field in South Africa. Cloning prior to sequencing was necessary because direct sequencing of PCR amplicons gave partially unreadable electrophoretograms with peak displacements suggestive of multiple sequences with length polymorphism. Sequences were determined from four clones per field. ITS sequences from African or Asian isolates available from the GenBank were included in the analyses. Independent sequence alignments of the ITS1 and ITS2 datasets identified 27 and 19 ribotypes, respectively. Molecular phylogeographic analyses revealed that ribotypes of widespread distribution in Brazil displayed characteristics of ancestrality and were shared with Africa and Asia, while ribotypes of rare occurrence in Brazil were indigenous. The results suggest P. pachyrhizi found in Brazil as originating from multiple, independent long-distance dispersal events.