Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion

Background: Li-Fraumeni (LFS) and Li-Fraumeni-like (LFL) syndromes are associated to germline TP53 mutations, and are characterized by the development of central nervous system tumors, sarcomas, adrenocortical carcinomas, and other early-onset tumors. Due to the high frequency of breast cancer in LFS/LFL families, these syndromes clinically overlap with hereditary breast cancer (HBC). Germline point mutations in BRCA1, BRCA2, and TP53 genes are associated with high risk of breast cancer. Large rearrangements involving these genes are also implicated in the HBC phenotype. Methods: We have screened DNA copy number changes by MLPA on BRCA1, BRCA2, and TP53 genes in 23 breast cancer patients with a clinical diagnosis consistent with LFS/LFL; most of these families also met the clinical criteria for other HBC syndromes. Results: We found no DNA copy number alterations in the BRCA2 and TP53 genes, but we detected in one patient a 36.4 Kb BRCA1 microdeletion, confirmed and further mapped by array-CGH, encompassing exons 9-19. Breakpoints sequencing analysis suggests that this rearrangement was mediated by flanking Alu sequences. Conclusion: This is the first description of a germline intragenic BRCA1 deletion in a breast cancer patient with a family history consistent with both LFL and HBC syndromes. Our results show that large rearrangements in these known cancer predisposition genes occur, but are not a frequent cause of cancer susceptibility.Brazilian National Institute of Science and Technology in OncogenomicsBrazilian National Institute of Science and Technology in Oncogenomics [FAPESP 2008/57887-9, CNPq 573589/08-9]Fundo de Incentivo a Pesquisa (FIP)Fundo de Incentivo a Pesquisa (FIPE)Hospital de Clinicas de Porto Alegre [04-081, 09-115]Hospital de Clinicas de Porto AlegreFAPERGS (Brazil)FAPERGS, BrazilCAPES [Process: 2317/10-9]CAPE

PATOGENICIDADE DE ESPÉCIES DE Macrophomina COLETADAS DE PLANTAS DANINHAS EM FEIJÃO-CAUPI

[PT] A podridão de carvão causada por Macrophomina phaseolina é uma das principais doenças do feijão-caupi, causando perdas substanciais para os produtores. Na região semiárida do Brasil, o feijão-caupi é uma das alternativas utilizadas para rotação de culturas durante a entressafra do melão. Isso favorece a multiplicação de Macrophomina, uma vez que ambas as culturas são hospedeiras desse patógeno. O objetivo deste estudo foi verificar a patogenicidade em caupi de Macrophomina phaseolina e M. pseudophaseolina em caupi. Isolados de Macrophomina spp. obtidos das raízes de Trianthema portulacastrum e Boerhavia diffusa, espécies de plantas daninhas prevalentes em áreas de produção de melão no Nordeste brasileiro foram utilizadas neste estudo. O experimento foi realizado em casa de vegetação. Plantas de feijão-caupi 'Paulistinha' foram inoculados com 30 isolados de M. phaseolina, 30 isolados de M. pseudophaseolina e um isolado de referência de M. phaseolina obtido de raízes de feijão-caupi. Todos os isolados de Macrophomina foram patogênicos ao feijão-caupi, não havendo diferenças estatísticas entre as duas espécies de Macrophomina em relação à incidência e severidade da doença. Além disso, 65,2 e 100,0% dos isolados de M. phaseolina, e 56,2 e 92,8% dos isolados de M. pseudophaseolina, obtidos de T. portulacastrum e B. diffusa, respectivamente, foram tão severos ao feijão-caupi quanto o isolado de referência. Esses resultados enfatizam a necessidade de estabelecer práticas de manejo visando o controle de T. portucalastrum e B. diffusa nas áreas de produção de feijão-caupi, pois podem atuar como fontes de inóculo e sobrevivência para Macrophomina spp.[EN] Charcoal rot caused by Macrophomina phaseolina is a major cowpea disease causing substantial losses to growers. In the semi-arid region of Brazil, cowpea is one of the most widely used alternatives for crop rotation during the off-season of melon. This favors Macrophomina multiplication because both crops are hosts of this pathogen. The objective of this study was to verify the pathogenicity of Macrophomina phaseolina and M. pseudophaseolina on cowpea. The Macrophomina spp. isolates used were obtained from the roots of Trianthema portulacastrum and Boerhavia diffusa, weed species prevalent in melon production areas in North-east Brazilian The experiment was carried out in a greenhouse. Cowpea plants cv. Paulistinha' were inoculated with 30 M. phaseolina isolates, 30 M. pseudophaseolina isolates and a reference isolate of H. phaseolina obtained from cowpea roots. All Macrophomina isolates were able to cause disease on cowpea and there were no statistical differences between both Macrophomina species regarding disease incidence and severity. Moreover, 65.2 and 100.0% of the M. phaseolina isolates, and 56.2 and 92.8% of the M. pseudophaseolina isolates, obtained from T. portulacastrum and B. diffusa, respectively, were as severe to cowpea as the M. phaseolina reference isolate from cowpea. These results emphasize the need to establish management practices aiming to control T. portucalastrum and B. diffusa from cowpea production areas, as they can act as potential sources of inoculum and survival for Macrophomina spp.This study was partially financed by the Coordenacao de Aperfeicoamento de Pessoal de Nivel Superior -Brazil (CAPES) -Finance Code 001 and by the Conselho Nacional de desenvolvimento Cientifico e Tecnologico (CNPq).Sales Jr., R.; Nogueira, A.; Mitsa Paiva Negreiros, A.; Rodrigues, T.; De Queiroz, M.; Armengol Fortí, J. (2020). PATHOGENICITY OF Macrophomina SPECIES COLLECTED FROM WEEDS IN COWPEA. Revista Caatinga. 33(2):395-401. https://doi.org/10.1590/1983-21252020v33n212rcS395401332Ambrósio, M. M. Q., Dantas, A. C. A., Martínez-Perez, E., Medeiros, A. C., Nunes, G. H. S., & Picó, M. B. (2015). Screening a variable germplasm collection of Cucumis melo L. for seedling resistance to Macrophomina phaseolina. Euphytica, 206(2), 287-300. doi:10.1007/s10681-015-1452-xFreitas, F. C. L., Medeiros, V. F. L. P., Grangeiro, L. C., Silva, M. G. O., Nascimento, P. G. M. L., & Nunes, G. H. (2009). Interferência de plantas daninhas na cultura do feijão-caupi. Planta Daninha, 27(2), 241-247. doi:10.1590/s0100-83582009000200005Gomes-Silva, F., Almeida, C. M. A., Silva, A. G., Leão, M. P. C., Silva, K. P., Oliveira, L. G., … Lima, V. L. M. (2017). Genetic Diversity of Isolates of Macrophomina phaseolina Associated with Cowpea from Brazil Semi-Arid Region. Journal of Agricultural Science, 9(11), 112. doi:10.5539/jas.v9n11p112Gupta, G. K., Sharma, S. K., & Ramteke, R. (2012). Biology, Epidemiology and Management of the Pathogenic Fungus Macrophomina phaseolina (Tassi) Goid with Special Reference to Charcoal Rot of Soybean (Glycine max (L.) Merrill). Journal of Phytopathology, 160(4), 167-180. doi:10.1111/j.1439-0434.2012.01884.xKaur, S., Dhillon, G. S., Brar, S. K., Vallad, G. E., Chand, R., & Chauhan, V. B. (2012). Emerging phytopathogenMacrophomina phaseolina: biology, economic importance and current diagnostic trends. Critical Reviews in Microbiology, 38(2), 136-151. doi:10.3109/1040841x.2011.640977Machado, A. R., Pinho, D. B., Soares, D. J., Gomes, A. A. M., & Pereira, O. L. (2018). Bayesian analyses of five gene regions reveal a new phylogenetic species of Macrophomina associated with charcoal rot on oilseed crops in Brazil. European Journal of Plant Pathology, 153(1), 89-100. doi:10.1007/s10658-018-1545-1Mbaye, N., Mame, P. S., Ndiaga, C., & Ibrahima, N. (2015). Is the recently described Macrophomina pseudophaseolina pathogenically different from Macrophomina phaseolina? African Journal of Microbiology Research, 9(45), 2232-2238. doi:10.5897/ajmr2015.7742Negreiros, A. M. P., Sales Júnior, R., León, M., Melo, N. J., Michereff, S. J., Ambrósio, M. M., … Armengol, J. (2019). Identification and pathogenicity of Macrophomina species collected from weeds in melon fields in Northeastern Brazil. Journal of Phytopathology, 167(6), 326-337. doi:10.1111/jph.12801Negreiros, A. M. P., Júnior, R. S., Rodrigues, A. P. M. S., León, M., & Armengol, J. (2019). Prevalent weeds collected from cucurbit fields in Northeastern Brazil reveal new species diversity in the genusMonosporascus. Annals of Applied Biology, 174(3), 349-363. doi:10.1111/aab.12493Ramos, H. M. M., Bastos, E. A., Andrade Júnior, A. S. de, & Marouelli, W. A. (2012). Estratégias ótimas de irrigação do feijão‑caupi para produção de grãos verdes. Pesquisa Agropecuária Brasileira, 47(4), 576-583. doi:10.1590/s0100-204x2012000400014Reis, E. M., Boaretto, C., & Danelli, A. L. D. (2014). Macrophomina phaseolina: density and longevity of microsclerotia in soybean root tissues and free on the soil, and competitive saprophytic ability. Summa Phytopathologica, 40(2), 128-133. doi:10.1590/0100-5405/1921Rocha, M. de M., Carvalho, K. J. M. de, Freire Filho, F. R., Lopes, Â. C. de A., Gomes, R. L. F., & Sousa, I. da S. (2009). Controle genético do comprimento do pedúnculo em feijão-caupi. Pesquisa Agropecuária Brasileira, 44(3), 270-275. doi:10.1590/s0100-204x2009000300008Sales Junior, R., Oliveira, O. F. de, Medeiros, É. V. de, Guimarães, I. M., Correia, K. C., & Michereff, S. J. (2012). Ervas daninhas como hospedeiras alternativas de patógenos causadores do colapso do meloeiro. Revista Ciência Agronômica, 43(1), 195-198. doi:10.1590/s1806-66902012000100024Sales Júnior, R., Rodrigues, A. P. M. dos S., Negreiros, A. M. P., Ambrósio, M. M. de Q., Barboza, H. da S., & Beltrán, R. (2019). WEEDS AS POTENTIAL HOSTS FOR FUNGAL ROOT PATHOGENS OF WATERMELON. Revista Caatinga, 32(1), 1-6. doi:10.1590/1983-21252019v32n101rcFrancisco, de A. S. e S., & Carlos, A. V. de A. (2016). The Assistat Software Version 7.7 and its use in the analysis of experimental data. African Journal of Agricultural Research, 11(39), 3733-3740. doi:10.5897/ajar2016.11522Silva, M. G. O. da, Freitas, F. C. L. de, Negreiros, M. Z. de, Mesquita, H. C. de, Santana, F. A. O. de, & Lima, M. F. P. de. (2013). Manejo de plantas daninhas na cultura da melancia nos sistemas de plantio direto e convencional. Horticultura Brasileira, 31(3), 494-499. doi:10.1590/s0102-05362013000300025Zhao, L., Cai, J., He, W., & Zhang, Y. (2019). Macrophomina vaccinii sp. nov. causing blueberry stem blight in China. MycoKeys, 55, 1-14. doi:10.3897/mycokeys.55.3501

Alcohol mixed with energy drink (AMED): A critical review and meta-analysis

© 2018 The Authors Human Psychopharmacology: Clinical and Experimental Published by John Wiley & Sons Ltd. The purpose of this systematic review and meta-analysis was to critically review the (1) prevalence of alcohol mixed with energy drink (AMED) consumption, (2) motives for AMED consumption, (3) correlates of AMED consumption, and (4) whether AMED consumption has an impact on (a) alcohol consumption, (b) subjective intoxication, and (c) risk-taking behavior. Overall a minority of the population consumes AMED, typically infrequently. Motives for AMED consumption are predominantly hedonistic and social. Meta-analyses revealed that AMED consumers drink significantly more alcohol than alcohol-only (AO) consumers. Within-subject comparisons restricted to AMED consumers revealed that alcohol consumption does not significantly differ between typical AMED and AO occasions. On past month heaviest drinking occasions, AMED users consume significantly less alcohol on AMED occasions when compared to AO occasions. AMED consumers experience significantly fewer negative consequences and risk-taking behavior on AMED occasions compared with AO occasions. Meta-analyses of subjective intoxication studies suggest that AMED consumption does not differentially affect subjective intoxication when compared to AO consumption. In conclusion, when compared to AO consumption, mixing alcohol with energy drink does not affect subjective intoxication and seems unlikely to increase total alcohol consumption, associated risk-taking behavior, nor other negative alcohol-related consequences. Further research may be necessary to fully reveal the effects of AMED

Novel insights into the genomic basis of citrus canker based on the genome sequences of two strains of Xanthomonas fuscans subsp. aurantifolii

Background: Citrus canker is a disease that has severe economic impact on the citrus industry worldwide. There are three types of canker, called A, B, and C. The three types have different phenotypes and affect different citrus species. The causative agent for type A is Xanthomonas citri subsp. citri, whose genome sequence was made available in 2002. Xanthomonas fuscans subsp. aurantifolii strain B causes canker B and Xanthomonas fuscans subsp. aurantifolii strain C causes canker C. Results: We have sequenced the genomes of strains B and C to draft status. We have compared their genomic content to X. citri subsp. citri and to other Xanthomonas genomes, with special emphasis on type III secreted effector repertoires. In addition to pthA, already known to be present in all three citrus canker strains, two additional effector genes, xopE3 and xopAI, are also present in all three strains and are both located on the same putative genomic island. These two effector genes, along with one other effector-like gene in the same region, are thus good candidates for being pathogenicity factors on citrus. Numerous gene content differences also exist between the three cankers strains, which can be correlated with their different virulence and host range. Particular attention was placed on the analysis of genes involved in biofilm formation and quorum sensing, type IV secretion, flagellum synthesis and motility, lipopolysacharide synthesis, and on the gene xacPNP, which codes for a natriuretic protein. Conclusion: We have uncovered numerous commonalities and differences in gene content between the genomes of the pathogenic agents causing citrus canker A, B, and C and other Xanthomonas genomes. Molecular genetics can now be employed to determine the role of these genes in plant-microbe interactions. The gained knowledge will be instrumental for improving citrus canker control.Fundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP)Conselho Nacional de Desenvolvimento CientIfico e Tecnologico (CNPq)Coordenacao para Aperfeicoamento de Pessoal de Ensino Superior (CAPES)Fundo de Defesa da Citricultura (FUNDECITRUS