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

On the rational subset problem for groups

We use language theory to study the rational subset problem for groups and monoids. We show that the decidability of this problem is preserved under graph of groups constructions with finite edge groups. In particular, it passes through free products amalgamated over finite subgroups and HNN extensions with finite associated subgroups. We provide a simple proof of a result of Grunschlag showing that the decidability of this problem is a virtual property. We prove further that the problem is decidable for a direct product of a group G with a monoid M if and only if membership is uniformly decidable for G-automata subsets of M. It follows that a direct product of a free group with any abelian group or commutative monoid has decidable rational subset membership.Comment: 19 page

Ising Field Theory on a Pseudosphere

We show how the symmetries of the Ising field theory on a pseudosphere can be exploited to derive the form factors of the spin fields as well as the non-linear differential equations satisfied by the corresponding two-point correlation functions. The latter are studied in detail and, in particular, we present a solution to the so-called connection problem relating two of the singular points of the associated Painleve VI equation. A brief discussion of the thermodynamic properties is also presented.Comment: 39 pages, 6 eps figures, uses harvma

Energy efficiency, sustainability and buildings interior comfort, relevant factors

Na sequência das directivas europeias, Portugal possui desde 2006, legislação no sentido de promover a Eficiência Energética, tendo estas entrada em pleno vigor em janeiro de 2009. No entanto, os autores, enquanto Peritos Qualificados do Sistema de Certificação Energética, no âmbito do Regulamento das Características de Comportamento Térmico dos Edifícios, têm-se vindo a deparar com uma série de casos de incumprimento do referido regulamento, devendo-se este fato, essencialmente à “resistência” que tem vindo a ser exercida pelos empreiteiros, principalmente pelos mais “pequenos”, por desconhecimento das novas directivas legislativas, travando assim todo o esforço de redução de consumos energéticos e de emissões de CO2, que tem vindo a ser levado cabo, em especial pela ADENE, agência para a energia. Apresenta-se, assim de seguida uma proposta de abordagem, tendente a uma efectiva transferência de conhecimento, da comunidade científica até aos seus aplicadores. Cabendo aqui ao Ensino Politécnico esse papel de interlocutor

Locating the Source of Diffusion in Large-Scale Networks

How can we localize the source of diffusion in a complex network? Due to the tremendous size of many real networks--such as the Internet or the human social graph--it is usually infeasible to observe the state of all nodes in a network. We show that it is fundamentally possible to estimate the location of the source from measurements collected by sparsely-placed observers. We present a strategy that is optimal for arbitrary trees, achieving maximum probability of correct localization. We describe efficient implementations with complexity O(N^{\alpha}), where \alpha=1 for arbitrary trees, and \alpha=3 for arbitrary graphs. In the context of several case studies, we determine how localization accuracy is affected by various system parameters, including the structure of the network, the density of observers, and the number of observed cascades.Comment: To appear in Physical Review Letters. Includes pre-print of main paper, and supplementary materia

Gravitational waves from the Papaloizou-Pringle instability in black hole-torus systems

Black hole (BH)--torus systems are promising candidates for the central engine of gamma-ray bursts (GRBs), and also possible outcomes of the collapse of supermassive stars to supermassive black holes (SMBHs). By three-dimensional general relativistic numerical simulations, we show that an $m=1$ nonaxisymmetric instability grows for a wide range of self-gravitating tori orbiting BHs. The resulting nonaxisymmetric structure persists for a timescale much longer than the dynamical one, becoming a strong emitter of large amplitude, quasiperiodic gravitational waves. Our results indicate that both, the central engine of GRBs and newly formed SMBHs, can be strong gravitational wave sources observable by forthcoming ground-based and spacecraft detectors.Comment: 4 pages, 4 figure, to be published in PR