First report on dung beetles in intra-Amazonian savannahs in Roraima, Brazil

This is the first study to address the dung beetle (Coleoptera: Scarabaeidae: Scarabaeinae) diversity in intra-Amazonian savannahs in the state of Roraima, Brazil. Our aim was to survey the dung beetle fauna associated with these savannahs (regionally called 'lavrado'), since little is known about the dung beetles from this environment. We conducted three field samples using pitfall traps baited with human dung in savannah areas near the city of Boa Vista during the rainy seasons of 1996, 1997, and 2008. We collected 383 individuals from ten species, wherein six have no previous record in intra-Amazonian savannahs. The most abundant species were Ontherus appendiculatus (Mannerheim, 1829), Canthidium aff. humerale (Germar, 1813), Dichotomius nisus (Olivier, 1789), and Pseudocanthon aff. xanthurus (Blanchard, 1846). We believe that knowing the dung beetles diversity associated with the intra-Amazonian savannahs is ideal for understanding the occurrence and distribution of these organisms in a highly threatened environment, it thus being the first step towards conservation strategy development

The PREDICTS database: A global database of how local terrestrial biodiversity responds to human impacts

© 2014 The Authors. Ecology and Evolution published by John Wiley & Sons Ltd. Biodiversity continues to decline in the face of increasing anthropogenic pressures such as habitat destruction, exploitation, pollution and introduction of alien species. Existing global databases of species' threat status or population time series are dominated by charismatic species. The collation of datasets with broad taxonomic and biogeographic extents, and that support computation of a range of biodiversity indicators, is necessary to enable better understanding of historical declines and to project - and avert - future declines. We describe and assess a new database of more than 1.6 million samples from 78 countries representing over 28,000 species, collated from existing spatial comparisons of local-scale biodiversity exposed to different intensities and types of anthropogenic pressures, from terrestrial sites around the world. The database contains measurements taken in 208 (of 814) ecoregions, 13 (of 14) biomes, 25 (of 35) biodiversity hotspots and 16 (of 17) megadiverse countries. The database contains more than 1% of the total number of all species described, and more than 1% of the described species within many taxonomic groups - including flowering plants, gymnosperms, birds, mammals, reptiles, amphibians, beetles, lepidopterans and hymenopterans. The dataset, which is still being added to, is therefore already considerably larger and more representative than those used by previous quantitative models of biodiversity trends and responses. The database is being assembled as part of the PREDICTS project (Projecting Responses of Ecological Diversity In Changing Terrestrial Systems - www.predicts.org.uk). We make site-level summary data available alongside this article. The full database will be publicly available in 2015. The collation of biodiversity datasets with broad taxonomic and biogeographic extents is necessary to understand historical declines and to project - and hopefully avert - future declines. We describe a newly collated database of more than 1.6 million biodiversity measurements from 78 countries representing over 28,000 species, collated from existing spatial comparisons of local-scale biodiversity exposed to different intensities and types of anthropogenic pressures, from terrestrial sites around the world

Correlating Global Gene Regulation to Angiogenesis in the Developing Chick Extra-Embryonic Vascular System

International audienceBACKGROUND: Formation of blood vessels requires the concerted regulation of an unknown number of genes in a spatial-, time- and dosage-dependent manner. Determining genes, which drive vascular maturation is crucial for the identification of new therapeutic targets against pathological angiogenesis. METHOLOGY/PRINCIPAL FINDINGS: We accessed global gene regulation throughout maturation of the chick chorio-allantoic membrane (CAM), a highly vascularized tissue, using pan genomic microarrays. Seven percent of analyzed genes showed a significant change in expression (>2-fold, FDR<5%) with a peak occurring from E7 to E10, when key morphogenetic and angiogenic genes such as BMP4, SMO, HOXA3, EPAS1 and FGFR2 were upregulated, reflecting the state of an activated endothelium. At later stages, a general decrease in gene expression occurs, including genes encoding mitotic factors or angiogenic mediators such as CYR61, EPAS1, MDK and MYC. We identified putative human orthologs for 77% of significantly regulated genes and determined endothelial cell enrichment for 20% of the orthologs in silico. Vascular expression of several genes including ENC1, FSTL1, JAM2, LDB2, LIMS1, PARVB, PDE3A, PRCP, PTRF and ST6GAL1 was demonstrated by in situ hybridization. Up to 9% of the CAM genes were also overexpressed in human organs with related functions, such as placenta and lung or the thyroid. 21-66% of CAM genes enriched in endothelial cells were deregulated in several human cancer types (P<.0001). Interfering with PARVB (encoding parvin, beta) function profoundly changed human endothelial cell shape, motility and tubulogenesis, suggesting an important role of this gene in the angiogenic process. CONCLUSIONS/SIGNIFICANCE: Our study underlines the complexity of gene regulation in a highly vascularized organ during development. We identified a restricted number of novel genes enriched in the endothelium of different species and tissues, which may play crucial roles in normal and pathological angiogenesis

Association of a duodenal follicular lymphoma and hereditary nonpolyposis colorectal cancer

Hereditary nonpolyposis colorectal cancer (HNPCC) is an inherited predisposition to colorectal and endometrial cancers caused by germline mutation of mismatch repair genes, with hMLH1 and hMSH2 underlying the majority of the cases. Although lymphoid tumors are the most common tumors in mouse models for HNPCC, lymphomas are almost never encountered in patients who have HNPCC, except in rare families with germline homozygous deletion of hMLH1. We report the case of a 53-year-old man who had a history of colon cancers related to constitutional hMLH1 mutation and who was diagnosed as having a duodenal follicular lymphoma. This diagnosis was supported by IgHBCL2 rearrangement and BCL2 immunoreactivity in tumor cells. The association of both of these possibly related rare diseases has never been reported. To clarify this relationship, we searched for hMLH1 expression and mismatch repair deficiency in the duodenal lymphoma, hMLH1 immunostaining was positive in lymphoid tumor cells, and no microsatellite instability was detected. In agreement with mouse models for HNPCC, these results suggest the involvement of alternative mechanisms to complete mismatch repair deficiency for lymphomagenesis in HNPCC syndrome

Bivariate genome-wide association meta-analysis of paediatric musculoskeletal traits reveals pleiotropic effects at the SREBF1/TOM1L2 locus

Bone mineral density (BMD) is known to be a heritable, polygenic trait whereas genetic variants contributing to lean mass variation remain largely unknown. We estimated the shared SNP-heritability and performed a bivariate GWAS meta-analysis of total-body lean mass (TB-LM) and BMD (TBLH-BMD) in 10,414 children. The estimated SNP-heritability is 43% (95%CI: 34-52%) for TBLH-BMD, and 39% (95%CI: 30-48%) for TB-LM, with a shared genetic component of 43% (95%CI: 29-56%). We identify variants with pleiotropic effects in eight loci, including seven established BMD loci: WNT4, GALNT3, MEPE, CPED1/WNT16, TNFSF11, RIN3 and PPP6R3/LRP5. Variants in the TOM1L2/SREBF1 locus exert opposing effects on TB-LM and TBLH-BMD, and have a stronger association with the former trait. We show that SREBF1 is expressed in murine and human osteoblasts as well as in human muscle tissue. This is the first bivariate GWAS meta-analysis to demonstrate genetic factors with pleiotropic effects on BMD and lean mass

Caracterização vocal de pacientes com hipertireoidismo e hipotireoidismo Vocal characterization of patients with hyperthyroidism and hypothyroidism

OBJETIVO: Caracterizar a qualidade vocal, por meio de análise computadorizada e perceptivo-auditiva, de pacientes com hipertireoidismo (grupo A) e hipotireoidismo (grupo B). MÉTODOS: Vinte mulheres não fumantes, com idades entre 18 e 55 anos, atendidas no Ambulatório de Endocrinologia da instituição, foram avaliadas após o diagnóstico clínico e laboratorial de hipertireoidismo ou hipotireoidismo. Os parâmetros investigados foram: tempo da doença, presença de queixa vocal, tempos máximos de fonação /a/, /s/ e /z/, freqüência fundamental (F0), ruído glótico (GNE). Os aspectos avaliados na análise perceptivo-auditiva, foram: coordenação pneumo-fonoarticulatória (coordenada ou incoordenada), pitch, loudness, ataque vocal, ressonância, velocidade de fala e qualidade vocal, que poderia ter até duas das seguintes classificações: neutra, rouca, soprosa, áspera ou tensa, e grau: leve, moderado ou severo. Os dados foram tabulados e analisados estatisticamente através do programa EPI-INFO 6.04b, método qualitativo Fisher, com nível de significância menor do que 0.05. RESULTADOS: A análise perceptivo-auditiva mostrou que sete pacientes hipotireoideos e nove pacientes hipertireoideos apresentaram alteração na qualidade vocal. Oito pacientes em ambos os grupos apresentaram incoordenação pneumo-fonoarticulatória. Oito pacientes do grupo A e seis pacientes do grupo B referiam queixas vocais como rouquidão e voz grossa, respectivamente. Na análise acústica, nove pacientes apresentaram o ruído glótico alterado. CONCLUSÃO: Os resultados evidenciaram grande incidência de alteração vocal nos grupos estudados (grupos dos pacientes com hipertireoidismo e com hipotireoidismo), o que demonstra a relação entre disfonia e disfunções tireoideanas.<br>PURPOSE: To characterize the vocal quality of subjects with hyperthyroidism (group A), and hypothyroidism (group B) through a computer-aided and auditory-perceptive analysis. METHODS: Twenty non-smoking women with ages between 18 and 55 years from the Endocrinology Ambulatory of the institution were evaluated after clinical and lab diagnosis for hyperthyroidism or hypothyroidism. The parameters investigated were: period bearing the disease, vocal complaint, maximum phonation time /a/, /s/, and /z/, fundamental frequency (F0), glottal noise (GNE). The aspects evaluated in the auditory-perceptive analysis were: pneumo-phono-articulatory coordination (coordinated or uncoordinated), pitch, loudness, vocal attack, resonance, speech speed and vocal quality, that could be classified as one or two of the following: neutral, hoarse, whispered, coarse, or tense, and degree: light, moderate or severe. Data were statistically analyzed through the EPI-INFO 6.04b software, Fisher qualitative method, considering a significance level of 0.05. RESULTS: The auditory-perceptive analysis showed that seven patients with hypothyroidism and nine with hyperthyroidism presented changes in vocal quality. Eight subjects from both groups presented pneumo-phono-articulatory incoordination. Eight subjects from group A and six from group B referred vocal complaints, such as hoarseness and thick voice, respectively. In the acoustic analysis, nine subjects presented change in glottal noise. CONCLUSION: The results showed great incidence of vocal changes on the studied groups (both hyper and hypothyroidism groups), which evidences the relation between dysphonia and thyroidal dysfunctions