GWAS of Follicular Lymphoma Reveals Allelic Heterogeneity at 6p21.32 and Suggests Shared Genetic Susceptibility with Diffuse Large B-cell Lymphoma

Non-Hodgkin lymphoma (NHL) represents a diverse group of hematological malignancies, of which follicular lymphoma (FL) is a prevalent subtype. A previous genome-wide association study has established a marker, rs10484561 in the human leukocyte antigen (HLA) class II region on 6p21.32 associated with increased FL risk. Here, in a three-stage genome-wide association study, starting with a genome-wide scan of 379 FL cases and 791 controls followed by validation in 1,049 cases and 5,790 controls, we identified a second independent FL–associated locus on 6p21.32, rs2647012 (ORcombined = 0.64, Pcombined = 2×10−21) located 962 bp away from rs10484561 (r2<0.1 in controls). After mutual adjustment, the associations at the two SNPs remained genome-wide significant (rs2647012:ORadjusted = 0.70, Padjusted = 4×10−12; rs10484561:ORadjusted = 1.64, Padjusted = 5×10−15). Haplotype and coalescence analyses indicated that rs2647012 arose on an evolutionarily distinct haplotype from that of rs10484561 and tags a novel allele with an opposite (protective) effect on FL risk. Moreover, in a follow-up analysis of the top 6 FL–associated SNPs in 4,449 cases of other NHL subtypes, rs10484561 was associated with risk of diffuse large B-cell lymphoma (ORcombined = 1.36, Pcombined = 1.4×10−7). Our results reveal the presence of allelic heterogeneity within the HLA class II region influencing FL susceptibility and indicate a possible shared genetic etiology with diffuse large B-cell lymphoma. These findings suggest that the HLA class II region plays a complex yet important role in NHL

Metabolite Profiling by Direct Analysis in Real Time Mass Spectrometry

Untargeted metabolite profiling is a discovery tool in the identification of metabolites associated to the responses of perturbations to biological systems, such as a disease. Direct Analysis in Real Time mass spectrometry (DART MS) promises to be a powerful analytical technique for high-throughput metabolome analysis of human blood sera. Here, we describe the steps involved in untargeted blood sera metabolic profiling experiments using DART MS with two different sample introduction methods: probe mode and transmission mode geometries. Information regarding the optimization of different DART parameters that directly affect metabolite desorption and ionization, thus influencing sensitivity, is included.Fil: Jones, Christina M.. No especifíca;Fil: Monge, Maria Eugenia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones en Bionanociencias "Elizabeth Jares Erijman"; ArgentinaFil: Fernández, Facundo M.. No especifíca

Cisto sinovial intraneural do nervo fibular: relato de caso Intraneural synovial cyst of the peroneal nerve: case report

Os autores apresentam um caso de um cisto sinovial intraneural ocorrendo no nervo fibular comum. O paciente apresentou-se com quadro de dor e dificuldade para a flexão dorsal e eversão do pé sendo submetido a exploração cirúrgica com exérese do cisto. Neste estudo são discutidos a patogênese, manifestações clínicas e tratamento desta rara lesão.<br>The authors report the case of an intraneural synovial cyst of the peroneal nerve. The initial symptom was pain and weakness of dorsiflexion and eversion of the right foot. The patient was operated on and the cyst was totally resected. The authors discuss the pathogenesis, clinical diagnosis as well as the treatment of that uncommon lesion

Avaliação da qualidade de vida em pacientes com fratura da tíbia Assessment of quality of life in patients with tibia fractures

OBJETIVO: Avaliar o impacto da fratura na qualidade de vida dos pacientes. MÉTODO: Os pacientes foram submetidos a um protocolo de dados clínicos e epidemiológicos, a uma avaliação específica para fraturas da tíbia, o método de Johner e Wruhs, cujo dados foram analisados por um questionário genérico para avaliação da qualidade de vida, o SF-36, o qual foi aplicado pelos autores, com um mínimo de seis meses de pós-operatório. Estes instrumentos foram também estratificados com relação ao retorno ou não dos pacientes a todas as atividades que realizavam antes do acidente. RESULTADOS: Observou-se uma diminuição dos valores de avaliação do questionário SF-36 demonstrada estatisticamente (p<0,05) tanto pelo teste U de Mann-Whitney, entre os itens do SF-36 e retorno ou não às atividades prévias, como com relação ao resultado do SF36 estratificado para a avaliação clínica (Johner e Wruhs), por meio do teste de Kruskal-Wallis. CONCLUSÃO: De acordo com os critérios estabelecidos, e com base nos resultados obtidos, a fratura da tíbia, mesmo com uma boa evolução clínica, promoveu uma piora na qualidade de vida dos pacientes analisados.<br>OBJECTIVE: To evaluate the impact of tibial fractures on patient's quality of life. METHOD: All patients were evaluated by means of a protocol of clinical and epidemiological data. The Johner and Wruhs method was employed to evaluate tibial fractures and the results were compared to those of the SF-36 Health Survey, which was applied by the authors from the sixth month postoperatively. Those methods were applied considering the return of the patients or not to all the activities they used to perform before the accident. RESULTS: We found a statistical significance (p<0.05) showed by Mann- Whitney's U-test between the component of SF-36, and return or not to previous activities. Regarding the results of SF36 and clinical evaluation (Johner and Wruhs), on the Kruskal-Wallis' test, we also found significant correlation. CONCLUSION: According to the established criteria and based on the results, tibial fractures, even with favorable clinical outcomes, result in a diminished quality of life