Determination of βS haplotypes in patients with sickle-cell anemia in the state of Rio Grande do Norte, Brazil

βS haplotypes were studied in 47 non-related patients with sickle-cell anemia from the state of Rio Grande do Norte, Brazil. Molecular analysis was conducted by PCR/RFLP using restriction endonucleases XmnI, HindIII, HincII and HinfI to analyze six polymorphic sites from the beta cluster. Twenty-seven patients (57.5%) were identified with genotype CAR/CAR, 9 (19.1%) CAR/BEN, 6 (12.8%) CAR/CAM, 1 (2.1%) BEN/BEN, 2 (4.3%) CAR/Atp, 1 (2.1%) BEN/Atp and 1 (2.1%) with genotype Atp/Atp. The greater frequency of Cameroon haplotypes compared to other Brazilian states suggests the existence of a peculiarity of African origin in the state of Rio Grande do Norte

Genomic analyses inform on migration events during the peopling of Eurasia.

High-coverage whole-genome sequence studies have so far focused on a limited number of geographically restricted populations, or been targeted at specific diseases, such as cancer. Nevertheless, the availability of high-resolution genomic data has led to the development of new methodologies for inferring population history and refuelled the debate on the mutation rate in humans. Here we present the Estonian Biocentre Human Genome Diversity Panel (EGDP), a dataset of 483 high-coverage human genomes from 148 populations worldwide, including 379 new genomes from 125 populations, which we group into diversity and selection sets. We analyse this dataset to refine estimates of continent-wide patterns of heterozygosity, long- and short-distance gene flow, archaic admixture, and changes in effective population size through time as well as for signals of positive or balancing selection. We find a genetic signature in present-day Papuans that suggests that at least 2% of their genome originates from an early and largely extinct expansion of anatomically modern humans (AMHs) out of Africa. Together with evidence from the western Asian fossil record, and admixture between AMHs and Neanderthals predating the main Eurasian expansion, our results contribute to the mounting evidence for the presence of AMHs out of Africa earlier than 75,000 years ago.Support was provided by: Estonian Research Infrastructure Roadmap grant no 3.2.0304.11-0312; Australian Research Council Discovery grants (DP110102635 and DP140101405) (D.M.L., M.W. and E.W.); Danish National Research Foundation; the Lundbeck Foundation and KU2016 (E.W.); ERC Starting Investigator grant (FP7 - 261213) (T.K.); Estonian Research Council grant PUT766 (G.C. and M.K.); EU European Regional Development Fund through the Centre of Excellence in Genomics to Estonian Biocentre (R.V.; M.Me. and A.Me.), and Centre of Excellence for Genomics and Translational Medicine Project No. 2014-2020.4.01.15-0012 to EGC of UT (A.Me.) and EBC (M.Me.); Estonian Institutional Research grant IUT24-1 (L.S., M.J., A.K., B.Y., K.T., C.B.M., Le.S., H.Sa., S.L., D.M.B., E.M., R.V., G.H., M.K., G.C., T.K. and M.Me.) and IUT20-60 (A.Me.); French Ministry of Foreign and European Affairs and French ANR grant number ANR-14-CE31-0013-01 (F.-X.R.); Gates Cambridge Trust Funding (E.J.); ICG SB RAS (No. VI.58.1.1) (D.V.L.); Leverhulme Programme grant no. RP2011-R-045 (A.B.M., P.G. and M.G.T.); Ministry of Education and Science of Russia; Project 6.656.2014/K (S.A.F.); NEFREX grant funded by the European Union (People Marie Curie Actions; International Research Staff Exchange Scheme; call FP7-PEOPLE-2012-IRSES-number 318979) (M.Me., G.H. and M.K.); NIH grants 5DP1ES022577 05, 1R01DK104339-01, and 1R01GM113657-01 (S.Tis.); Russian Foundation for Basic Research (grant N 14-06-00180a) (M.G.); Russian Foundation for Basic Research; grant 16-04-00890 (O.B. and E.B); Russian Science Foundation grant 14-14-00827 (O.B.); The Russian Foundation for Basic Research (14-04-00725-a), The Russian Humanitarian Scientific Foundation (13-11-02014) and the Program of the Basic Research of the RAS Presidium “Biological diversity” (E.K.K.); Wellcome Trust and Royal Society grant WT104125AIA & the Bristol Advanced Computing Research Centre (http://www.bris.ac.uk/acrc/) (D.J.L.); Wellcome Trust grant 098051 (Q.A.; C.T.-S. and Y.X.); Wellcome Trust Senior Research Fellowship grant 100719/Z/12/Z (M.G.T.); Young Explorers Grant from the National Geographic Society (8900-11) (C.A.E.); ERC Consolidator Grant 647787 ‘LocalAdaptatio’ (A.Ma.); Program of the RAS Presidium “Basic research for the development of the Russian Arctic” (B.M.); Russian Foundation for Basic Research grant 16-06-00303 (E.B.); a Rutherford Fellowship (RDF-10-MAU-001) from the Royal Society of New Zealand (M.P.C.)

Studies on prevalence of Strongyloides infection in Holambra and Maceió, Brazil, by the agar plate faecal culture method

Prevalence of Strongyloides stercoralis infection in three areas of Brazil was surveyed by a recently developed faecal culture method (an agar plate culture). The Strongyloides infection was confirmed in 11.3% of 432 subjects examined. The diagnostic efficacy of the agar plate culture was as high as 93.9% compared to only 28.5% and 26.5% by the Harada-Mori filter paper culture and faecal concentration methods, when faecal samples were examined simultaneously by these three methods. Among the 49 positive samples, about 60% were confirmed to be positive only by the agar plate culture. These results indicate that the agar plate culture is a sensitive new tool for the correct diagnosis of chronic Strongyloides infection

Estudos sobre a prevalência da infecção por Strongyloides em Holambra e em Maceió, Brasil, pelo método de cultura de fezes em placa de ágar

Foi feito levantamento sobre a prevalência da infecção por Strongyloides stercoralis em três áreas do Brasil, através do desenvolvimento de método de cultura de fezes (cultura em placa de ágar). A infecção por Strongyloides foi confirmada em 11,3% de 432 pacientes examinados. A eficácia do diagnóstico pela cultura em placa de ágar foi de 93,9% comparado com apenas 28,5% e 26,5% pelo método de Harada-Mori de cultura em papel de filtro e método de concentração de fezes, quando amostras de fezes foram examinadas simultaneamente por estes três métodos. Entre as 49 amostras positivas, aproximadamente 60% foram confirmadas como positivas somente pela cultura em placa de ágar. Estes resultados indicam que a cultura em placa de ágar é um novo método sensível para o diagnóstico correto da infecção crônica pelo Strongyloides.Prevalence of Strongyloides stercoralis infection in three areas of Brazil was surveyed by a recently developed faecal culture method (an agar plate culture). The Strongyloides infection was confirmed in 11.3% of 432 subjects examined. The diagnostic efficacy of the agar plate culture was as high as 93.9% compared to only 28.5% and 26.5% by the Harada-Mori filter paper culture and faecal concentration methods, when faecal samples were examined simultaneously by these three methods. Among the 49 positive samples, about 60% were confirmed to be positive only by the agar plate culture. These results indicate that the agar plate culture is a sensitive new tool for the correct diagnosis of chronic Strongyloides infection

Estudos sobre a prevalência da infecção por Strongyloides em Holambra e em Maceió, Brasil, pelo método de cultura de fezes em placa de ágar

Prevalence of Strongyloides stercoralis infection in three areas of Brazil was surveyed by a recently developed faecal culture method (an agar plate culture). The Strongyloides infection was confirmed in 11.3% of 432 subjects examined. The diagnostic efficacy of the agar plate culture was as high as 93.9% compared to only 28.5% and 26.5% by the Harada-Mori filter paper culture and faecal concentration methods, when faecal samples were examined simultaneously by these three methods. Among the 49 positive samples, about 60% were confirmed to be positive only by the agar plate culture. These results indicate that the agar plate culture is a sensitive new tool for the correct diagnosis of chronic Strongyloides infection.Foi feito levantamento sobre a prevalência da infecção por Strongyloides stercoralis em três áreas do Brasil, através do desenvolvimento de método de cultura de fezes (cultura em placa de ágar). A infecção por Strongyloides foi confirmada em 11,3% de 432 pacientes examinados. A eficácia do diagnóstico pela cultura em placa de ágar foi de 93,9% comparado com apenas 28,5% e 26,5% pelo método de Harada-Mori de cultura em papel de filtro e método de concentração de fezes, quando amostras de fezes foram examinadas simultaneamente por estes três métodos. Entre as 49 amostras positivas, aproximadamente 60% foram confirmadas como positivas somente pela cultura em placa de ágar. Estes resultados indicam que a cultura em placa de ágar é um novo método sensível para o diagnóstico correto da infecção crônica pelo Strongyloides.27928

Development of a gas chamber for detecting broiler chicken halothane sensitivity and PSE (Pale, Soft, Exudative) meat formation

The objective of this work was to investigate the use of a halothane to screen broiler chickens prone to develop PSE (Pale, Soft, Exudative) meat through a special gas chamber connected to a veterinarian anaesthetic apparatus developed in our laboratory. Anaesthesia was induced with approx. 3.0% halothane at a flow rate of 6.0 Lm-1 in pure oxygen for 5 min. Commercial male broilers (n=342) aged 46 days old were evaluated and classified as either halothane sensitive (HAL+) or insensitive (HAL-), depending on the leg rigidity response. Approximately 27.5% (n=94) of broilers were HAL+ and 72.5% (n=248) were HAL-. This is a simple and rapid technique to evaluate broiler sensitivity to halothane and identify broilers prone to develop PSE meat. The occurrence of PSE meat in HAL insensitive broiler chicken samples suggests that other factors are related to PSE occurrence.<br>O objetivo deste trabalho foi investigar o uso do halotano para avaliar e identificar frangos propensos ao desenvolvimento de carnes PSE (Pálida, Flácida, Exsudativa) por meio de uma câmara desenvolvida em nossos laboratórios. Esta foi conectada a um equipamento de anestesia veterinária e a anestesia foi então induzida com aproximadamente 3,0% de halotano a um fluxo de 6,0 L/min em puro oxigênio. A sensibilidade de três frangos foi avaliada simultaneamente. Os frangos de linhagem comercial (n=352) com 46 dias de idade foram expostos à 3,0% de halotano por 5 min e classificados como halotano sensível (HAL +) e não-sensível (HAL -), baseado no enrijecimento dos seus membros inferiores. Aproximadamente 27,5% (n=94) frangos foram HAL+ e 72,5% (n=248) HAL-. Amostras do músculo Pectoralis major (n=75) foram coletadas após o abate dos animais para as medidas de pH e cor, determinadas nos filés mantidos a 4 C por 24 h postmortem. Frangos HAL+ apresentaram maior porcentagem de carnes PSE quando comparadas ao grupo HAL-. Este é um teste simples e rápido para a avaliação da sensibilidade das aves ao halotano e identificar frangos propensos ao desenvolvimento de carnes PSE embora amostras de HAL - também apresentaram carnes PSE sugerindo que outros fatores estão relacionados com a formação da anormalidade