362 resultados para TRISOMY 20P
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Recent studies have reported that flanking stimuli broaden the psychometric function and lower detection thresholds. In the present study, we measured psychometric functions for detection and discrimination with and without flankers to investigate whether these effects occur throughout the contrast continuum. Our results confirm that lower detection thresholds with flankers are accompanied by broader psychometric functions. Psychometric functions for discrimination reveal that discrimination thresholds with and without flankers are similar across standard levels, and that the broadening of psychometric functions with flankers disappears as standard contrast increases, to the point that psychometric functions at high standard levels are virtually identical with or without flankers. Threshold-versus-contrast (TvC) curves with flankers only differ from TvC curves without flankers in occasional shallower dippers and lower branches on the left of the dipper, but they run virtually superimposed at high standard levels. We discuss differences between our results and other results in the literature, and how they are likely attributed to the differential vulnerability of alternative psychophysical procedures to the effects of presentation order. We show that different models of flanker facilitation can fit the data equally well, which stresses that succeeding at fitting a model does not validate it in any sense.
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Lapid, Ulrich, and Rammsayer (2008) reported that estimates of the difference limen (DL) from a two-alternative forced choice (2AFC) task are higher than those obtained from a reminder task. This article reanalyzes their data in order to correct an error in their estimates of the DL from 2AFC data. We also extend the psychometric functions fitted to data from both tasks to incorporate an extra parameter that has been shown to allow obtaining accurate estimates of the DL that are unaffected by lapses. Contrary to Lapid et al.'s conclusion, our reanalysis shows that DLs estimated with the 2AFC task are only minimally (and not always significantly) larger than those estimated with the reminder task. We also show that their data are contaminated by response bias, and that the small remaining difference between DLs estimated with 2AFC and reminder tasks can be reasonably attributed to the differential effects that response bias has in either task as they were defined in Lapid et al.'s experiments. Finally, we discuss a novel approach presented by Ulrich and Vorberg (2009) for fitting psychometric functions to 2AFC discrimination data.
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Fixed-step-size (FSS) and Bayesian staircases are widely used methods to estimate sensory thresholds in 2AFC tasks, although a direct comparison of both types of procedure under identical conditions has not previously been reported. A simulation study and an empirical test were conducted to compare the performance of optimized Bayesian staircases with that of four optimized variants of FSS staircase differing as to up-down rule. The ultimate goal was to determine whether FSS or Bayesian staircases are the best choice in experimental psychophysics. The comparison considered the properties of the estimates (i.e. bias and standard errors) in relation to their cost (i.e. the number of trials to completion). The simulation study showed that mean estimates of Bayesian and FSS staircases are dependable when sufficient trials are given and that, in both cases, the standard deviation (SD) of the estimates decreases with number of trials, although the SD of Bayesian estimates is always lower than that of FSS estimates (and thus, Bayesian staircases are more efficient). The empirical test did not support these conclusions, as (1) neither procedure rendered estimates converging on some value, (2) standard deviations did not follow the expected pattern of decrease with number of trials, and (3) both procedures appeared to be equally efficient. Potential factors explaining the discrepancies between simulation and empirical results are commented upon and, all things considered, a sensible recommendation is for psychophysicists to run no fewer than 18 and no more than 30 reversals of an FSS staircase implementing the 1-up/3-down rule.
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Threshold estimation with sequential procedures is justifiable on the surmise that the index used in the so-called dynamic stopping rule has diagnostic value for identifying when an accurate estimate has been obtained. The performance of five types of Bayesian sequential procedure was compared here to that of an analogous fixed-length procedure. Indices for use in sequential procedures were: (1) the width of the Bayesian probability interval, (2) the posterior standard deviation, (3) the absolute change, (4) the average change, and (5) the number of sign fluctuations. A simulation study was carried out to evaluate which index renders estimates with less bias and smaller standard error at lower cost (i.e. lower average number of trials to completion), in both yes–no and two-alternative forced-choice (2AFC) tasks. We also considered the effect of the form and parameters of the psychometric function and its similarity with themodel function assumed in the procedure. Our results show that sequential procedures do not outperform fixed-length procedures in yes–no tasks. However, in 2AFC tasks, sequential procedures not based on sign fluctuations all yield minimally better estimates than fixed-length procedures, although most of the improvement occurs with short runs that render undependable estimates and the differences vanish when the procedures run for a number of trials (around 70) that ensures dependability. Thus, none of the indices considered here (some of which are widespread) has the diagnostic value that would justify its use. In addition, difficulties of implementation make sequential procedures unfit as alternatives to fixed-length procedures.
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This article is a rejoinder to Murdock and Golding’s response to my critique of the political economy of communications (PEC) analysis of media production (see Author 2015). This article sets this exchange in the context of a broader debate in recent editions of Media, Culture & Society (Garnham 2016, Fuchs, 2016) about the value of PEC. Much of this debate stems from Garnham’s (2011) critical review of 40 years of PEC research.
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Pilgrimage to Compostela was decreasing in the nineteenth century. This situation was still worse in France, where the number of pilgrims dwindled dramatically. In fact, there are not many travel narratives in this period, as no relevant French author showed any interest in this religious event. An analysis of these works reveals that the worship to Santiago was somehow considered by these authors a mere historical remnant with an aura of prestige. They allow almost no space for factual descriptions, and therefore used documentary sources to discuss the topic in their own texts. As a consequence, their knowledge of this universe became indirect and intertextual.
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Children with Down syndrome (DS) have a greatly increased risk of acute megakaryoblastic leukemia (AMKL) and acute lymphoblastic leukemia (ALL). Both DS-AMKL and the related transient myeloproliferative disorder (TMD) have GATA1 mutations as obligatory, early events. To identify mutations contributing to leukemogenesis in DS-ALL, we undertook sequencing of candidate genes, including FLT3, RAS, PTPN11, BRAF, and JAK2. Sequencing of the JAK2 pseudokinase domain identified a specific, acquired mutation, JAK2R683, in 12 (28%) of 42 DS-ALL cases. Functional studies of the common JAK2R683G mutation in murine Ba/F3 cells showed growth factor independence and constitutive activation of the JAK/STAT signaling pathway. High-resolution SNP array analysis of 9 DS-ALL cases identified additional submicroscopic deletions in key genes, including ETV6, CDKN2A, and PAX5. These results infer a complex molecular pathogenesis for DS-ALL leukemogenesis, with trisomy 21 as an initiating or first hit and with chromosome aneuploidy, gene deletions, and activating JAK2 mutations as complementary genetic events. (Blood. 2009; 113: 646-648)
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Deletion of the TP53 gene on chromosome 17p13.1 is the prognostic factor associated with the shortest survival in CLL. We used array-based comparative genomic hybridisation (arrayCGH) to identify additional DNA copy number changes in peripheral blood samples from 74 LRF CLL4 trial patients, 37 with >or=5% and 37 without TP53-deleted cells. ArrayCGH reliably detected deletions on 17p, including the TP53 locus, in cases with >or=50%TP53-deleted cells detected by fluorescence in situ hybridisation, plus seven additional cases with deleted regions on 17p excluding TP53. Losses on chromosomal regions 18p and/or 20p were found exclusively in cases with >or=5%TP53-deleted cells (por=5%TP53-deleted cases (p=0.02). In particular, amplification of 2p and deletion of 6q were both more frequent. Cases with >20%TP53-deleted cells had the worst prognosis in the LRF CLL4 trial.
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A Síndrome de Down, também conhecida como Trissomia 21, representa a anomalia cromossómica mais comum da espécie humana. Caracteriza-se por um conjunto clássico de sinais e sintomas que afetam o desenvolvimento neuromotor e cognitivo. O diagnóstico da Síndrome de Down baseia-se numa série de sinais e sintomas, sendo a sua confirmação estabelecida através do estudo cromossómico. Nem toda a população afetada apresenta as mesmas características, sendo necessário uma identificação do cariótipo para um diagnóstico definitivo. Embora apresentando diferentes graus de severidade assim como inicio de manifestação dos primeiros sintomas em diferentes alturas, toda a população com SD apresenta morfismo característico da face e do sistema esquelético, alterações do SNC e início precoce da doença de Alzheimer. As características dento-maxilo-faciais afetam o normal funcionamento do sistema estomatognático. A maioria possui um padrão braquifacial com um desenvolvimento mandibular no sentido anti-horário e manifesta má-oclusão sob uma vasta etiologia. Consequentemente ocorrem alterações a nível da estética, postura, mastigação, respiração e fonação. Apresentam inclusive um controlo de placa ineficaz e pobre higienização oral, sendo os procedimentos de prevenção importantes. A Ortodontia tem um papel de relevo no tratamento das má-oclusões que contribuem para as limitações do paciente. Ressalte-se a importância da sensibilização dos familiares para a necessidade de higienização bucal destes pacientes, bem como o conhecimento pelo médico dentista acerca das principais manifestações bucais que acometem os pacientes portadores, para que o tratamento adequado seja oferecido e a qualidade de vida desses indivíduos preservada.
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Projeto de Graduação apresentado à Universidade Fernando Pessoa como parte dos requisitos para obtenção do grau de licenciada em Enfermagem
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Pretendeu-se com esta investigação, compreender o contributo do Programa de Interação e Socialização pela Música (PISM), aplicado em 39 sessões, na promoção do desenvolvimento pessoal e social dos alunos com Trissomia 21 (T21), com os seus pares sem necessidades educativas especiais (NEE). Participaram neste estudo de caso 16 alunos, com idades compreendidas entre os 10 e os 16 anos de idade, de um Agrupamento de Escolas do concelho de Loulé, do distrito de Faro, durante o ano letivo de 2013/2014. Estes dados foram recolhidos através da técnica Focus Group aos alunos sem NEE. Foram também utilizadas grelhas de registo. Os dados foram tratados com base numa metodologia qualitativa. Concluiu-se que o programa de Educação Musical PISM permitiu aos alunos com T21, na opinião dos colegas sem NEE, melhorar o seu desenvolvimento pessoal e social, tal como, a sua capacidade de comunicação, participação, interação, convivência, com os seus pares e compreensão em relação ao que lhes era proposto. A Música é vista por todos como um meio privilegiado que quebra qualquer diferença que exista entre eles, sendo esta considerada como um canal de comunicação sem barreiras, onde todos podem aprender com todos, ou seja, a Música é uma linguagem universal promotora de amizade.
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Projeto de investigação apresentado à Escola Superior de Educação de Paula Frassinetti
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Mungbean ( Vigna radiata (L.) Wilczek) is an important source of nutrients and income for smallholder farmers in East Africa. Mungbean production in countries like Uganda largely depends on landraces, in the absence of improved varieties. In order to enhance productivity, efforts have been underway to develop and evaluate mungbean varieties that meet farmers’ needs in various parts of the country. This study was conducted at six locations in Uganda, to determine the adaptability of introduced mungbean genotypes, and identify mungbean production mega-environments in Uganda. Eleven genotypes (Filsan, Sunshine, Blackgram, Mauritius1, VC6148 (50-12), VC6173 (B-10),Yellowmungo, KPS1, VC6137(B-14),VC6372(45-60),VC6153(B-20P) and one local check were evaluated in six locations during 2013 and 2014. The locations were; National Semi Arid Resources Research Institute (NaSARRI), Abi Zonal Agricultural Research and Development Institute (AbiZARDI),Kaberamaido variety trial center, Kumi variety trial center, Nabuin Zonal Agricultural Research and Development Institute (NabuinZARDI), and Ngetta Zonal Agricultural Research and Development Institute (NgettaZARDI). G × E interactions were significant for grain yield. Through GGEBiplot analysis, three introduced genotypes (Filsan, Blackgram and Sunshine) were found to be stable and high yielding, and therefore, were recommended for release. The six test multi-locations were grouped into two candidate mega-environments for mungbean production (one comprising of AbiZARDI and Kaberamaido and the other comprising of NaSARRI, NabuinZARDI, Kumi, and NgettaZARDI). National Semi Arid Resources Research Institute (NaSARRI) was the most suitable environment in terms of both discriminative ability and representativeness and therefore can be used for selection of widely adaptable genotypes.
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Dissertação de Mestrado apresentada no Instituto Superior de Psicologia Aplicada para obtenção de grau de Mestre na especialidade de Psicologia Educacional
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El presente estudio se realizó en el Hospital Nacional de Maternidad, el cual es el centro de referencia de pacientes con complicaciones maternas y neonatales a nivel nacional. Este estudio fue realizado en el periodo de Enero-Diciembre del año 2013, con diseño no experimental, descriptivo, observacional, de corte transversal, en el cual se tomó una muestra de 28 pacientes que cumplieron los requisitos respectivos, se realizó revisión de expedientes de embarazadas mayores de 21 semanas con el objetivo de determinar la evolución clínica y los resultados maternos fetales en pacientes que tienen cultivo positivo a estreptococos del grupo B. La recolección de datos se realizó mediante el llenado de un cuestionario cuyos resultados son comparables a estudios internacionales en donde el nivel de mortalidad a causa del estreptococo del grupo B es alrededor al 15% y más del 70% sufrieron complicaciones graves como sepsis materna y neonatal, neumonía y corioamnionitis.