15,894 research outputs found
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)Ă2~3, 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 sequĂȘncia das directivas europeias, Portugal possui desde 2006, legislação no sentido de promover a EficiĂȘncia EnergĂ©tica, tendo estas entrada em pleno vigor em janeiro de 2009. No entanto, os autores, enquanto Peritos Qualificados do Sistema de Certificação EnergĂ©tica, no Ăąmbito do Regulamento das CaracterĂsticas de Comportamento TĂ©rmico dos EdifĂcios, tĂȘm-se vindo a deparar com uma sĂ©rie de casos de incumprimento do referido regulamento, devendo-se este fato, essencialmente Ă âresistĂȘnciaâ que tem vindo a ser exercida pelos empreiteiros, principalmente pelos mais âpequenosâ, por desconhecimento das novas directivas legislativas, travando assim todo o esforço de redução de consumos energĂ©ticos e de emissĂ”es de CO2, que tem vindo a ser levado cabo, em especial pela ADENE, agĂȘncia para a energia. Apresenta-se, assim de seguida uma proposta de abordagem, tendente a uma efectiva transferĂȘncia de conhecimento, da comunidade cientĂfica atĂ© aos seus aplicadores. Cabendo aqui ao Ensino PolitĂ©cnico 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
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
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