870 resultados para Sib-pair Families


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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

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A search for pair production of third-generation scalar leptoquarks and supersymmetric top quark partners, top squarks, in final states involving tau leptons and bottom quarks is presented. The search uses events from a data sample of proton-proton collisions corresponding to an integrated luminosity of 19.7 fb(-1), collected with the CMS detector at the LHC with root s = 8 TeV. The number of observed events is found to be in agreement with the expected standard model background. Third-generation scalar leptoquarks with masses below 740 GeV are excluded at 95% confidence level, assuming a 100% branching fraction for the leptoquark decay to a tau lepton and a bottom quark. In addition, this mass limit applies directly to top squarks decaying via an R-parity violating coupling. lambda(') (333). The search also considers a similar signature from top squarks undergoing a chargino-mediated decay involving the Rparity violating coupling. lambda(')(3jk). Each top squark decays to a tau lepton, a bottom quark, and two light quarks. Top squarks in this model with masses below 580 GeV are excluded at 95% confidence level. The constraint on the leptoquark mass is the most stringent to date, and this is the first search for top squarks decaying via. lambda(')(3jk). (C) 2014 The Authors. Published by Elsevier B. V.

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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Insects of the suborder Heteroptera are known for their odor, for being pests, or for being disease carriers. To gain better insight into the cytogenetic characteristics of heteropterans, 18 species of terrestrial Heteroptera belonging to eight families were studied. The presence of heteropycnotic corpuscles during prophase I, terminal or interstitial chiasmas, telomeric associations between chromosomes, ring disposals of autosomes during metaphase, and late migrations of the sex chromosomes during anaphase were analyzed. These features showed identical patterns to other species of Heteroptera previously described in the literature. Another studied characteristic was chromosome complements. The male chromosome complements observed were 2n = 12 chromosomes [10A + XY, Galgupha sidae (Amyot & Serville) (Corimelaenidae) and Pachycoris torridus (Scopoli) (Scutelleridae)]; 2n = 13 [10A + 2m + X0, Harmostes serratus (Fabricius), Harmostes apicatus (Stål), Jadera haematoloma (Herrich-Schaeffer), Jadera sanguinolenta (Fabricius), Jadera sp. (Rhopalidae)], and Neomegalotomus parvus (Westwood) (Alydidae); 2n = 13 [12A + X0, Stenocoris furcifera (Westwood) (Alydidae); 2n = 14 [12A + XY, Dictyla monotropidia (Stål) (Tingidae)]; 2n = 19 [18A + X0, Acanonicus hahni (Stål) (Coreidae)]; 2n = 21 [18A + 2m + X0, Acanthocephala sp. (Dallas) (Coreidae)]; 2n = 27 [24A + 2m + X0, Anisoscelis foliacea marginella (Dallas) (Coreidae)]; 2n = 18 [16A + XY, Oncopeltus fasciatus (Dallas) (Lygaeidae)]; 2n = 17 [14A + X1X2Y, Oxycarenus hyalinipennis (Costa) (Lygaeidae)]; 2n = 16 [12A + 2m + XY, Pachybrachius bilobatus (Say) (Lygaeidae)]; 2n = 26 [24A + XY, Atopozelus opsinus (Elkins) (Reduviidae)]; and 2n = 27 [24A + X1X2Y, Doldina carinulata (Stål) (Reduviidae)]. The diversity of the cytogenetic characteristics of Heteroptera was reflected in the 18 studied species. Thus, this study extends the knowledge of these characteristics, such as the variations related to chromosome complements, sex chromosome systems, and meiotic behavior.

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Germline mutations in TP53 gene are associated with Li-Fraumeni syndrome (LFS) and its variants Li-Fraumeni-like (LFL). They predispose carriers to a wide variety of early onset tumors. In Brazil, there is a high frequency of a germline mutation in this gene (NC_000017.9: c.1010G>A; p.R337H) in Southern and Southeastern regions, due to a founder effect. It is estimated to be present in 0,3% ofthe local population, but only few families have been detected. Due to this significant divergence, the purpose of this study was to verify the effectiveness of wider criteria for detection of these individuals. Herein, clinical criteria were established, DNA samples were collected, analyzed by Restriction Fragment Length Polymorphism (RFLP) and sequenced. Thus, assessing the prevalence of this mutation in families with multiple cases of cancer. Based on our proposed criteria, one out of 31 patients (3,22%) was found to carry p.R337H mutation. The patient developed ductal invasive breast cancer at age 47, invasive adenocarcinoma of the lung at age 48 and soft-tissue sarcoma at age 49. In addition, an extensive cancer family history was referred, atypical for LFS, including a case of Ewing’s sarcoma. These outcomes indicate that the proposed criteria may detect probable carriers who did not fit previous LFS criteria. Nevertheless, additional studies, which might include a larger number of families and more stringent parameters, will be useful to improve screening sensibility

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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

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