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

Axial Anomaly from the BPHZ regularized BV master equation

A BPHZ renormalized form for the master equation of the field antifiled (or BV) quantization has recently been proposed by De Jonghe, Paris and Troost. This framework was shown to be very powerful in calculating gauge anomalies. We show here that this equation can also be applied in order to calculate a global anomaly (anomalous divergence of a classically conserved Noether current), considering the case of QED. This way, the fundamental result about the anomalous contribution to the Axial Ward identity in standard QED (where there is no gauge anomaly) is reproduced in this BPHZ regularized BV framework.Comment: 10 pages, Latex, minor changes in the reference

Caracterização dos maços de rúcula comercializados no Distrito Federal e estimativas de perdas.

bitstream/CNPH-2009/33444/1/bpd_35.pd

Identificação dos tipos de rúcula comercializados no varejo do Distrito Federal.

bitstream/CNPH-2009/33441/1/bpd_34.pd

A comparative analysis of attribute reduction algorithms applied to wet-blue leather defects classification.

This paper presents an attribute reduction comparative study on four linear discriminant analysis techniques: FisherFace, CLDA, DLDA and YLDA. The attribute reduction has been applied to the problem of leather defect c1assification using four different c1assifiers: C4.5, KNN, Naive Bayes and Support Veetor Machines. Results and analyses on the performance of correct c1assification rates as the number of attributes were reduced are reported.Disponível em: http://www.matmidia.mat.puc-rio.br/sibgrapi2009/media/posters/59602.pdf. Acesso em 13 de novembro de 2009

A public health approach to patient-centredness in embryo research

Looking at patient-centredness through the lens of public health is needed for responsible governance of human embryo research. This study aimed to explore patients’ experiences and perspectives on information about and consent for research with human embryos, to sustain the development of policies and guidelines.info:eu-repo/semantics/publishedVersio

Programas de reabilitação na artroplastia metacarpofalângica

A artroplastia metacarpofalângica com implante de silicone é a cirurgia de substituição articular mais comum ao nível da mão nos doentes com Artrite Reumatoide. Outros procedimentos estão disponíveis, nomeadamente a artroplastia de recessão e a artroplastia com componentes metálico e/ou polietileno. No entanto, os implantes de Swanson mantêm-se o gold standard deste tipo de cirurgia conferindo um maior grau de estabilidade em relação a outros tipos de artroplastias. A ação que o tratamento fisiátrico exerce nas estruturas abarticulares, tanto pelo alívio álgico como pela flexibilização articular e fortalecimento dos músculos naturalmente amiotrofiados pelo processo crónico é essencial. Um programa de reabilitação adequado e individualizado terá implicações essenciais na funcionalidade atingida. Os autores efetuaram uma breve revisão dos diferentes procedimentos cirúrgicos e propõem para cada tipo de prótese usada um programa de reabilitação pré e pós cirúrgicos

Sustainability in fashion: A study of clean waste management within a clothing company

The Apparel Industry is one of the most polluting industries due to the amount of waste that is created throughout the production process. It is essential to study this process to identify the problem, the causes and to propose solutions for a sustainable approach in this sector. This paper presents an exploratory study on the management of textile waste in Portugal in general and more specifically, through a case study in a confection clothing company.FEDER funds through the Competitivity Factors Operational Programme - COMPETE and by national funds through FCT – Foundation for Science and Technology within the scope of the project POCI-01-0145-FEDER-007136

Hamiltonian embedding of the massive noncommutative U(1) theory

We show that the massive noncommutative U(1) can be embedded in a gauge theory by using the BFFT Hamiltonian formalism. By virtue of the peculiar non-Abelian algebraic structure of the noncommutative massive U(1) theory, several specific identities involving Moyal commutators had to be used in order to make the embedding possible. This leads to an infinite number of steps in the iterative process of obtaining first-class constraints. We also shown that the involutive Hamiltonian can be constructed.Comment: 8 pages, Revtex (multicol