561 research outputs found

    Guillain-Barré syndrome in temporal association with influenza A vaccine

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    OBJECTIVE: To report a case of Guillain-Barré syndrome following influenza A (H1N1) 2009 vaccine. CASE DESCRIPTION: A four-year-old boy presented right thigh pain and ascending muscular weakness 15 days after the second dose of influenza A (H1N1) 2009 vaccine. The neurological examination revealed tetraparesis and areflexia. Electroneuromyography showed lower velocity and conduction blockage with small secondary axonal loss. Treated with intravenous immunoglobulin, the patient reached a plateau in the 4th day, followed by progressive muscular strength improvement. COMMENTS: The employment of large-scale influenza A (H1N1) 2009 vaccination and the preliminary reports from the American Surveillance Program suggest a significant association between Guillain-Barré syndrome and influenza A H1N1 2009 vaccination. All suspected cases of this association should be published for further evaluation. Vaccination remains the most effective method to prevent serious illness and death related to influenza.OBJETIVO: Descrever um caso de síndrome de Guillain-Barré em associação temporal com a vacina influenza A (H1N1) 2009. DESCRIÇAO DO CASO: Menino de quatro anos com queixa inicial de dor em coxa direita e perda de força muscular ascendente 15 dias após a segunda dose da vacina influenza A (H1N1) 2009. Ao exame neurológico apresentava tetraparesia e arreflexia, com predomínio em membros inferiores. A eletroneuromiografia evidenciou redução da velocidade e bloqueio de condução neuronal, com discreta perda axonal secundária. Foi tratado com imunoglobulina por via intravenosa, atingiu platô no quarto dia de evolução da doença e, depois, houve melhora progressiva da força muscular. COMENTÁRIOS: Com o emprego em larga escala da vacina influenza A (H1N1) 2009 em nosso meio e os dados preliminares do sistema de vigilância norte-americano mostrando associação temporal significante com a síndrome de Guillain-Barré, recomenda-se a descrição dos casos suspeitos dessa associação. A vacina continua sendo o método mais efetivo para prevenir doença grave e morte por influenza.Universidade Federal de São Paulo (UNIFESP)UNIFESPSciEL

    Germline DNA copy number variation in familial and early-onset breast cancer

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    Introduction: Genetic factors predisposing individuals to cancer remain elusive in the majority of patients with a familial or clinical history suggestive of hereditary breast cancer. Germline DNA copy number variation (CNV) has recently been implicated in predisposition to cancers such as neuroblastomas as well as prostate and colorectal cancer. We evaluated the role of germline CNVs in breast cancer susceptibility, in particular those with low population frequencies (rare CNVs), which are more likely to cause disease." Methods: Using whole-genome comparative genomic hybridization on microarrays, we screened a cohort of women fulfilling criteria for hereditary breast cancer who did not carry BRCA1/BRCA2 mutations. Results: The median numbers of total and rare CNVs per genome were not different between controls and patients. A total of 26 rare germline CNVs were identified in 68 cancer patients, however, a proportion that was significantly different (P = 0.0311) from the control group (23 rare CNVs in 100 individuals). Several of the genes affected by CNV in patients and controls had already been implicated in cancer. Conclusions: This study is the first to explore the contribution of germline CNVs to BRCA1/2-negative familial and early-onset breast cancer. The data suggest that rare CNVs may contribute to cancer predisposition in this small cohort of patients, and this trend needs to be confirmed in larger population samples.Brazilian National Institute of Science and Technology in Oncogenomics [FAPESP 2008/57887-9, CNPq 573589/08-9, FAPESP (2009/00898-1)]Brazilian National Institute of Science and Technology in Oncogenomic

    The ocean sampling day consortium

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    Ocean Sampling Day was initiated by the EU-funded Micro B3 (Marine Microbial Biodiversity, Bioinformatics, Biotechnology) project to obtain a snapshot of the marine microbial biodiversity and function of the world’s oceans. It is a simultaneous global mega-sequencing campaign aiming to generate the largest standardized microbial data set in a single day. This will be achievable only through the coordinated efforts of an Ocean Sampling Day Consortium, supportive partnerships and networks between sites. This commentary outlines the establishment, function and aims of the Consortium and describes our vision for a sustainable study of marine microbial communities and their embedded functional traits
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