51 research outputs found

    PAMELA Observation of the 2012 May 17 GLE Event

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    The PAMELA (Payload for Antimatter Matter Exploration and Light-nuclei Astrophysics) satellite-borne experiment has been collecting data in orbit since July 2006, providing accurate measurements of the energy spectra and composition of the cosmic radiation from a few hundred MeVn up to hundred GeVn. This wide interval of measured energies makes PAMELA a unique instrument for Solar Energetic Particle (SEP) observations. Not only does it span the energy range between the ground-based neutron monitor data and the observations of SEPs from space, but also PAMELA carries out the first direct measurements of the composition for the highest energy SEP events, including those causing Ground Level Enhancements (GLEs). PAMELA has registered many SEP events in solar cycle 24 including the 2012 May 17 GLE event (GLE 71), offering unique opportunities to address the question of high-energy SEP origin. Experimental performances and preliminary results on the 2012 May 17 events will be presented. We will discuss the derived particle injection time and compare with other time scales at the Sun including the flare and CME onset times

    Caracterização da queixa escolar no Centro de Psicologia Aplicada da Universidade Federal de Juiz de Fora

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    A queixa escolar vem se constituindo, historicamente, como um dos motivos mais frequentes de encaminhamentos de crianças para os serviços-escola de Psicologia, traduzindo, pela sua complexidade, um desafio para a formação e práticas no âmbito da psicologia escolar/educacional. Diante da necessidade de aperfeiçoar o atendimento à clientela e o processo de triagem, o presente estudo objetivou analisar os prontuários referentes à queixa escolar de pacientes atendidos no Centro de Psicologia Aplicada da Universidade Federal de Juiz de Fora, Minas Gerais, Brasil, num total de 1.590 documentos, no período de 1996 a 2009. Os resultados quanto à clientela evidenciaram a prevalência de meninos na faixa entre 9 e 13 anos de idade, com predomínio de encaminhamentos oriundos de escolas de periférias da cidade. Quanto à queixa, constatou-se expressiva coocorrência de problemas comportamentais e de aprendizagem. Os dados permitem uma reflexão crítica acerca da queixa escolar e de alguns fatores contextuais, bem como a necessidade de aperfeiçoamento da ficha de triagem

    High prevalence of germline STK11 mutations in Hungarian Peutz-Jeghers Syndrome patients

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    <p>Abstract</p> <p>Background</p> <p>Peutz-Jeghers syndrome (PJS) is a rare autosomal dominantly inherited disease characterized by gastrointestinal hamartomatous polyposis and mucocutaneous pigmentation. The genetic predisposition for PJS has been shown to be associated with germline mutations in the <it>STK11</it>/<it>LKB1 </it>tumor suppressor gene. The aim of the present study was to characterize Hungarian PJS patients with respect to germline mutation in <it>STK11</it>/<it>LKB1 </it>and their association to disease phenotype.</p> <p>Methods</p> <p>Mutation screening of 21 patients from 13 PJS families were performed using direct DNA sequencing and multiplex ligation-dependent probe amplification (MLPA). Comparative semi-quantitative sequencing was applied to investigate the mRNA-level effects of nonsense and splice-affecting mutations.</p> <p>Results</p> <p>Thirteen different pathogenic mutations in <it>STK11</it>, including a high frequency of large genomic deletions (38%, 5/13), were identified in the 13 unrelated families studied. One of these deletions also affects two neighboring genes (<it>SBNO2 </it>and <it>GPX4</it>), located upstream of <it>STK11</it>, with a possible modifier effect. The majority of the point mutations (88%, 7/8) can be considered novel. Quantification of the <it>STK11 </it>transcript at the mRNA-level revealed that the expression of alleles carrying a nonsense or frameshift mutation was reduced to 30-70% of that of the wild type allele. Mutations affecting splice-sites around exon 2 displayed an mRNA processing pattern indicative of co-regulated splicing of exons 2 and 3.</p> <p>Conclusions</p> <p>A combination of sensitive techniques may assure a high (100%) <it>STK11 </it>mutation detection frequency in PJS families. Characterization of mutations at mRNA level may give a deeper insight into the molecular consequences of the pathogenic mutations than predictions made solely at the genomic level.</p

    The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations

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    Background: Juvenile polyposis (JP) is an autosomal dominant syndrome predisposing to colorectal and gastric cancer. We have identified mutations in two genes causing JP, MADH4 and bone morphogenetic protein receptor 1A (BMPR1A): both are involved in bone morphogenetic protein (BMP) mediated signalling and are members of the TGF-ß superfamily. This study determined the prevalence of mutations in MADH4 and BMPR1A, as well as three other BMP/activin pathway candidate genes in a large number of JP patients. Methods: DNA was extracted from the blood of JP patients and used for PCR amplification of each exon of these five genes, using primers flanking each intron–exon boundary. Mutations were determined by comparison to wild type sequences using sequence analysis software. A total of 77 JP cases were sequenced for mutations in the MADH4, BMPR1A, BMPR1B, BMPR2, and/or ACVR1 (activin A receptor) genes. The latter three genes were analysed when MADH4 and BMPR1A sequencing found no mutations. Results: Germline MADH4 mutations were found in 14 cases (18.2%) and BMPR1A mutations in 16 cases (20.8%). No mutations were found in BMPR1B, BMPR2, or ACVR1 in 32 MADH4 and BMPR1A mutation negative cases. Discussion: In the largest series of JP patients reported to date, the prevalence of germline MADH4 and BMPR1A mutations is approximately 20% for each gene. Since mutations were not found in more than half the JP patients, either additional genes predisposing to JP remain to be discovered, or alternate means of inactivation of the two known genes are responsible for these JP cases

    Time dependence of the flux of helium nuclei in cosmic rays measured by the pamela experiment between 2006 july and 2009 december

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    Precise time-dependent measurements of the Z = 2 component in the cosmic radiation provide crucial information about the propagation of charged particles through the heliosphere. The PAMELA experiment, with its long flight duration (2006 June 15-2016 January 23) and the low energy threshold (80 MeV/n) is an ideal detector for cosmic-ray solar modulation studies. In this paper, the helium nuclei spectra measured by the PAMELA instrument from 2006 July to 2009 December over a Carrington rotation time basis are presented. A state-of-the-art three-dimensional model for cosmic-ray propagation inside the heliosphere was used to interpret the time-dependent measured fluxes. Proton-to-helium flux ratio time profiles at various rigidities are also presented in order to study any features that could result from the different masses and local interstellar spectra shapes

    Helium Fluxes Measured by the PAMELA Experiment from the Minimum to the Maximum Solar Activity for Solar Cycle 24

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    Time-dependent energy spectra of galactic cosmic rays (GCRs) carry fundamental information regarding their origin and propagation. When observed at the Earth, these spectra are significantly affected by the solar wind and the embedded solar magnetic field that permeates the heliosphere, changing significantly over an 11 yr solar cycle. Energy spectra of GCRs measured during different epochs of solar activity provide crucial information for a thorough understanding of solar and heliospheric phenomena. The PAMELA experiment collected data for almost 10 years (2006 June 15-2016 January 23), including the minimum phase of solar cycle 23 and the maximum phase of solar cycle 24. In this paper, we present new spectra for helium nuclei measured by the PAMELA instrument from 2010 January to 2014 September over a three-Carrington-rotation time basis. These data are compared to the PAMELA spectra measured during the previous solar minimum, providing a picture of the time dependence of the helium-nuclei fluxes over a nearly full solar cycle. Time and rigidity dependencies are observed in the proton-to-helium flux ratios. The force-field approximation of the solar modulation was used to relate these dependencies to the shapes of the local interstellar proton and helium-nuclei spectra
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