994 resultados para disease predisposition


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Genome wide association studies (GWAS) have identified several low-penetrance susceptibility alleles in chronic lymphocytic leukemia (CLL). Nevertheless, these studies scarcely study regions that are implicated in non-coding molecules such as microRNAs (miRNAs). Abnormalities in miRNAs, as altered expression patterns and mutations, have been described in CLL, suggesting their implication in the development of the disease. Genetic variations in miRNAs can affect levels of miRNA expression if present in pre-miRNAs and in miRNA biogenesis genes or alter miRNA function if present in both target mRNA and miRNA sequences. Therefore, the present study aimed to evaluate whether polymorphisms in pre-miRNAs, and/or miRNA processing genes contribute to predisposition for CLL. A total of 91 SNPs in 107 CLL patients and 350 cancer-free controls were successfully analyzed using TaqMan Open Array technology. We found nine statistically significant associations with CLL risk after FDR correction, seven in miRNA processing genes (rs3805500 and rs6877842 in DROSHA, rs1057035 in DICER1, rs17676986 in SND1, rs9611280 in TNRC6B, rs784567 in TRBP and rs11866002 in CNOT1) and two in pre-miRNAs (rs11614913 in miR196a2 and rs2114358 in miR1206). These findings suggest that polymorphisms in genes involved in miRNAs biogenesis pathway as well as in pre-miRNAs contribute to the risk of CLL. Large-scale studies are needed to validate the current findings.

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Background: Chagas disease is caused by Trypanosoma cruzi, and humans acquire the parasite by exposure to contaminated feces from hematophagous insect vectors known as triatomines. Triatoma virus (TrV) is the sole viral pathogen of triatomines, and is transmitted among insects through the fecal-oral route and, as it happens with T. cruzi, the infected insects release the virus when defecating during or after blood uptake. Methods: In this work, we analysed the occurrence of anti-TrV antibodies in human sera from Chagas disease endemic and non-endemic countries, and developed a mathematical model to estimate the transmission probability of TrV from insects to man, which ranged between 0.00053 and 0.0015. Results: Our results confirm that people with Chagas disease living in Bolivia, Argentina and Mexico have been exposed to TrV, and that TrV is unable to replicate in human hosts. Conclusions: We presented the first experimental evidence of antibodies against TrV structural proteins in human sera.

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A azatioprina e a 6 mercaptopurina (6-MCP) são drogas muito utilizada no tratamento das doenças inflamatórias intestinais (DII), porém estão associadas a vários efeitos colaterais. A determinação prévia do genótipo da tiopurina metiltransferase (TPMT) pode identificar pacientes de maior risco de toxicidade a droga. Os objetivos deste estudo foram avaliar a prevalência dos polimorfismos do gene da TPMT em pacientes com DII acompanhados no Hospital Universitário Pedro Ernesto (HUPE) da UERJ, comparando com a prevalência em outras populações e correlacionar a presença desses polimorfismos com a toxicidade às drogas. Foram avaliados 146 pacientes com doença de Crohn (DC) e 73 com retocolite ulcerativa idiopática (RCUI). A pesquisa dos principais genótipos da TPMT (*2, *3, *3C) foi realizada por técnicas de PCR (alelo específico e RFLP). Os achados clínicos foram correlacionados com a genotipagem e avaliados por análises multivariadas. Dentre os pacientes que estavam em uso de azatioprina, 14 apresentaram pancreatite ou elevação de enzimas pancreáticas, 6 apresentaram hepatoxicidade e 2 evoluíram com neutropenia. Os polimorfismos do gene da TPMT foram observados em 37 dos 219 pacientes (8 foram heterozigotos para o genótipo *2, 11 heterozigotos para *3A e 18 foram heterozigotos para o polimorfismo *3C). Não foi observado nenhum homozigoto polimórfico. Uma correlação positiva foi observada entre a elevação de enzimas pancreáticas e os genótipos *2 e *3C. A prevalência dos polimorfismos neste estudo (16,89%) foi maior que a descrita para população caucasiana e em outros estudos brasileiros. Apesar do predomínio do genótipo *3C, não houve ocorrência exclusiva de um polimorfismo, conforme observado em outras populações. A população brasileira devido à sua miscigenação têm características genotípicas próprias diferentes do outros países do mundo. Dois polimorfismos da TPMT (*2 e *3C) estiveram associados à toxicidade ao uso da azatioprina em pacientes com DII no sudeste do Brasil. O teste genético pode auxiliar na escolha da melhor droga e na dose ideal para os pacientes portadores de DII antes do início do tratamento.

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The white spot viral disease in penaeid shrimp affects the development of the global shrimp industry. This paper reviews the viruses that cause the disease, the transmission of the virus, diagnosis and preventive measures.

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Vibriosis caused by opportunistic and secondary bacterial pathogens is still a serious disease problem in aquaculture of the black tiger shrimp Penaeus monodon. Attempts were made for controlling shrimp bacterial disease using Marine Secondary Metabolites (MSMs). Findings indicated that the MSMs of seaweed Ulva fasciata and Dendrilla nigra are effective for controlling shrimp bacterial pathogens.

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Shrimp disease of viral origin have caused large production losses worldwide. This paper presents a case study of shrimp (Penaeus monodon; Penaeus indicus) epizootic disease, covering an area of 1,050 ha in Andhra Pradesh, India. The disease struck shrimp farms in the area in July 1994. Samples from 26 shrimp farms were studied in the laboratory, and the pattern of the disease and of mortality recorded. The disease was classified as infectious hepatopancreatic and lymphoid organ necrosis disease (IHLN).

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Transfers and introductions of marine species have occurred and are occurring on a worldwide basis, largely in response to perceived needs of expanding aquaculture industries. Greatest interest is in salmon (cage rearing and ocean ranching), shrimp, and bivalve mollusks, although other organisms are being considered. Such movements of animals carry an associated risk of moving pathogens into areas where they did not occur previously, possibly resulting in infections in native species. Many case histories of the effects of introduced pathogens and parasites now exist-enough to suggest that national and international action is necessary. Viral pathogens of shrimp and salmon, as well as protozoan parasites of mollusks and nematode parasites of eels, have entered complex "transfer networks" developed by humans, and have been transported globally with their hosts in several well-documented instances. Examining the records of transfers and introductions of marine species, incomplete as they are, permits the statement of emerging principles-foremost of which is that severe disease outbreaks can result from inadequately controlled or uncontrolled movements of marine animals.

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Extensive mortalities of oysters, Crassostrea virginica, occurred from 1985 through 1987 in coastal waters of Georgia. Fluid thioglycolate cultures of oysters collected from 16 of 17 locations revealed infections by the apicomplexan parasite Perkinsus marinus. An ascetosporan parasite, Haplosporidium nelsoni, was also observed in histopathological examination of oysters from 4 of the locations. While the range of H. nelsoni currently is recognized as the east coast of the United States from Maine to Florida, this is the first report of the parasite in Georgia waters. This paper documents the occurrence of these two lethal parasites in oysters from coastal waters of Georgia, along with potential disease and management implications. Results of an earlier independent and previously unpublished survey are also discussed which document the presence of P. marinus in Georgia as early as 1966.