Characterization of a rare analphoid supernumerary marker chromosome in mosaic

Abstract publicado em: Chromosome Research. 2015;23(Suppl 1):67-8. doi:10.1007/s10577-015-9476-6Analphoid supernumerary marker chromosomes (SMCs) are a rare subclass of SMCs C-band-negative and devoid of alpha-satellite DNA. These marker chromosomes cannot be identified unambiguously by conventional banding techniques alone being necessary to apply molecular cytogenetic methods in favour of a detailed characterization. In this work we report an analphoid SMC involving the terminal long arm of chromosome 7, in 9 years-old boy with several dysmorphic features and severe development delay. Cytogenetic analysis revealed a mosaic karyotype with the presence of an extra SMC, de novo, in 20 % of lymphocytes and 73 % of fibroblast cells. FISH analysis with alpha-satellite probes for all chromosomes, whole chromosome painting probe for chromosome 7, and D7S427 and TelVysion 7q probes, allowed establishing the origin of the SMC as an analphoidmarker resulting of an invdup rearrangement of 7q36-qter region. Affimetrix CytoScan HD microarray analysis, redefined the SMC to arr[hg19] 7q35(143696249-159119707)×2~3, which correspond to a gain of 15.42 Mb and encloses 67 OMIM genes, 16 of which are associated to disease. This result, combined with detailed clinical description, will provide an important means for better genotype-phenotype correlation and a more suitable genetic counselling to the patient and his parents, despite the additional difficulty resulting from being a mosaic (expression varies in different tissues). Analphoid SMCs derived from chromosome 7 are very rare, with only three cases reported so far. With this case we hope contribute to a better understanding of this type of chromosome rearrangements which are difficult for genetic counselling

Jet Collimation by Small-Scale Magnetic Fields

A popular model for jet collimation is associated with the presence of a large-scale and predominantly toroidal magnetic field originating from the central engine (a star, a black hole, or an accretion disk). Besides the problem of how such a large-scale magnetic field is generated, in this model the jet suffers from the fatal long-wave mode kink magnetohydrodynamic instability. In this paper we explore an alternative model: jet collimation by small-scale magnetic fields. These magnetic fields are assumed to be local, chaotic, tangled, but are dominated by toroidal components. Just as in the case of a large-scale toroidal magnetic field, we show that the ``hoop stress'' of the tangled toroidal magnetic fields exerts an inward force which confines and collimates the jet. The magnetic ``hoop stress'' is balanced either by the gas pressure of the jet, or by the centrifugal force if the jet is spinning. Since the length-scale of the magnetic field is small (< the cross-sectional radius of the jet << the length of the jet), in this model the jet does not suffer from the long-wave mode kink instability. Many other problems associated with the large-scale magnetic field are also eliminated or alleviated for small-scale magnetic fields. Though it remains an open question how to generate and maintain the required small-scale magnetic fields in a jet, the scenario of jet collimation by small-scale magnetic fields is favored by the current study on disk dynamo which indicates that small-scale magnetic fields are much easier to generate than large-scale magnetic fields.Comment: 14 pages, no figur

Effectiveness of Surgery for Lumbar Spinal Stenosis : A Systematic Review and Meta-Analysis

Peer reviewedPublisher PD

Exportação de nutrientes em povoamentos de Pinus taeda L. baseada em volume estimado pelo sistema sispinus.

Os plantios de Pinus ocorrem preferencialmente em regiões com menores preços de terras, localizados em áreas com solos de baixa fertilidade natural e conseqüentemente baixa produtividade. Essa condição, associada ao fato da não-fertilização dos plantios, via de regra, e à exportação de nutrientes nos desbastes e na colheita final, leva invariavelmente a perdas de produtividade futuras dos povoamentos. Nesse contexto, este trabalho teve como objetivo avaliar a aplicabilidade de modelos matemáticos, desenvolvidos em área florestais descritas por Moro (2005), ao SisPinus, para estimativa de nutrientes exportados na madeira, nas ocasiões da colheita da floresta. Para a realização deste estudo, foram selecionados plantios de P. taeda com 8, 12, 18 e 23 anos de idade, localizados em povoamentos comerciais, situados na região de Guarapuava (PR). Determinaram-se os nutrientes nos diversos segmentos do tronco, a cada metro, da base à altura comercial, no lenho e na casca. As equações desenvolvidas por Moro (2005) foram inseridas ao estimador de biomassa SisPinus, possibilitando a estimativa dos nutrientes exportados. O ajuste das equações desenvolvidas, dentro da variação de idade, qualidade do sítio, intensidade de manejo, entre outras variáveis, foi extremamente elevado, permitindo alta confiabilidade nas equações para estimativa de exportação dos nutrientes

Comportamento, no sul de Minas, de progênies de cafeeiros com resistência à ferrugem, selecionadas de diversos ensaios do Procafé.

No presente trabalho foram reunidas, em 2 ensaios, em execução na FEX Varginha, 30 progênies no primeiro ensaio e 32 no segundo, correspondentes a plantas selecionadas de ensaios anteriores de diferentes áreas, principalmente de seleções feitas em Varginha, e, também, de Mal Floriano-ES, de Patrocínio, e do CEPEC em Martins Soares. Os ensaios são catalogados como 3-32 e 3-35 na FEX do Procafé em Varginha. Eles foram delineados em blocos ao acaso, com 3 repetições e parcelas de 6 plantas. No ensaio 3-32 o plantio foi efetuado em janeiro de 2004 e no ensaio 3-35 em janeiro de 2005.O espaçamento usado foi de 3,5 x 1 m. Os tratos culturais foram os usuais, com 2 aplicações de fungicidas triazóis mais cúpricos, para controle da ferrugem e cercosporiose, em todo o ensaio

Simulation of VUV electroluminescence in micropattern gaseous detectors: the case of GEM and MHSP

Electroluminescence produced during avalanche development in gaseous avalanche detectors is an useful information for triggering, calorimetry and tracking in gaseous detectors. Noble gases present high electroluminescence yields, emitting mainly in the VUV region. The photons can provide signal readout if appropriate photosensors are used. Micropattern gaseous detectors are good candidates for signal amplification in high background and/or low rate experiments due to their high electroluminescence yields and radiopurity. In this work, the VUV light responses of the Gas Electron Multiplier and of the Micro-Hole Strip Plate, working with pure xenon, are simulated and studied in detail using a new and versatile C++ toolkit. It is shown that the solid angle subtended by a photosensor placed below the microstructures depends on the operating conditions. The obtained absolute EL yields, determined for different gas pressures and as functions of the applied voltage, are compared with those determined experimentally.Comment: Accepted for publication in Journal of Instrumentatio

Transport Properties of Highly Aligned Polymer Light-Emitting-Diodes

We investigate hole transport in polymer light-emitting-diodes in which the emissive layer is made of liquid-crystalline polymer chains aligned perpendicular to the direction of transport. Calculations of the current as a function of time via a random-walk model show excellent qualitative agreement with experiments conducted on electroluminescent polyfluorene demonstrating non-dispersive hole transport. The current exhibits a constant plateau as the charge carriers move with a time-independent drift velocity, followed by a long tail when they reach the collecting electrode. Variation of the parameters within the model allows the investigation of the transition from non-dispersive to dispersive transport in highly aligned polymers. It turns out that large inter-chain hopping is required for non-dispersive hole transport and that structural disorder obstructs the propagation of holes through the polymer film.Comment: 4 pages, 5 figure