Constitutional Haploinsufficiency of Tumor Suppressor Genes in Mentally Retarded Patients With Microdeletions in 17p13.1

Chromosome microdeletions or duplications are detected in 10-20% of patients with mental impairment and normal karyotypes. A few cases have been reported of mental impairment with microdeletions comprising tumor suppressor genes. By array-CGH we detected 4 mentally impaired individuals carrying de novo microdeletions sharing an overlapping segment of similar to 180 kb in 17p13.1. This segment encompasses 18 genes, including 3 involved in cancer, namely KCTD11/REN, DLG4/PSD95, and GPS2. Furthermore, in 2 of the patients, the deletions also included TP53, the most frequently inactivated gene in human cancers. The 3 tumor suppressor genes KCTD11, DLG4, and GPS2, in addition to the GABARAP gene, have a known or suspected function in neuronal development and are candidates for causing mental impairment in our patients. Among our 4 patients with deletions in 17p13.1, 3 were part of a Brazilian cohort of 300 mentally retarded individuals, suggesting that this segment may be particularly prone to rearrangements and appears to be an important cause (similar to 1%) of mental retardation. Further, the constitutive deletion of tumor suppressor genes in these patients, particularly TP53, probably confers a significantly increased lifetime risk for cancer and warrants careful oncological surveillance of these patients. Constitutional chromosome deletions containing tumor suppressor genes in patients with mental impairment or congenital abnormalities may represent an important mechanism linking abnormal phenotypes with increased risks of cancer. Copyright (C) 2009 S. Karger AG, Basel

Breaking the Conventions : Shakespeare, the Fair Young Man and the Dark Lady

The aim of this essay is to show how Shakespeare’s sonnets violated and reversed the conventional ideas in terms of beauty and idealisation. Furthermore, I will examine the way Shakespeare presented his beloved woman as an absolute opposite of the one created by Petrarch, and how he shifted all the divine metaphors from a woman to a fair young man, creating a new object of praise and admiration.

Sacredness of the constitutional text and interpretative heresy: the Brazilian Supreme Court decision on same-sex civil unions

The paper provides a close lecture of the arguments and methods of legal construction, employed in the extensive individual opinions written by the Justices of the Brazilian Supreme Court in the case which authorized the same sex civil union. After tracing an outline of the legal problem and his possible solutions, we analyze the individual opinions, showing their methodological syncretism, the use of legal methods and arguments in a contradictory way as well the deficiencies in the reasoning. The Justices use legal arguments, but do not meet the requirements of rationality in the decision-making. We have a rhetorical attempt that aims to satisfy the public opinion than to offer a comprehensive and coherent solution according the normative elements of the Brazilian Federal Constitution of 1988.

Construction of facilities under asymmetric information: do constitutional constraints matter?

This paper studies construction of facilities in a federal state under asymmetric information. A country consists of two regions, each ruled by a local authority. The federal government plans to construct a facility in one of the regions. The facility generates a local value in the host region and has spillover effects in the other region. The federal government does not observe the local value because it is the local authority's private information. 80 the federal governrnent designs an incentive-compatible mechanism, specifying if the facility should be constructed and a balanced scheme of interregional transfers to finance its cost. The federal governrnent is constitutionally constrained to respect a given leveI of each region's welfare. We show that depending upon the facility's local value and the spillover effect, the governrnent faces different incentive problems. Moreover, their existence depends crucially on how stringent constitutional constraints are. Therefore, the optimal mechanism will also depend upon these three features of the model.

Contrato típico de concessão comercial : sugestão de inserção de cláusula escalonada de mediação e arbitragem nas convenções de marca para solução de conflitos entre concessionários : um passo adiante nas disputas dos distribuidores

A partir de uma visão contemporânea do contrato o trabalho procurou, (i) reconstruir o marco teórico sobre qual se funda o contrato de concessão comercial no Brasil, registrando uma nota histórica sobre a criação da Lei nº 6.729/1979; (ii) avaliar a validade da lei estudada sob o enfoque do regime constitucional vigente; (iii) analisar o regime jurídico das convenções de marca previstas na lei e a utilização dessas convenções como mecanismos de incentivo de atuação dos concessionários dentro de suas respectivas áreas operacionais, conceituando-as; (iv) sugerir mecanismos de solução de conflitos decorrentes da atuação, pelos concessionários, fora de sua respectiva área operacional, especialmente a cláusula de mediação e arbitragem

A materialização da dignidade da pessoa humana e o cumprimento das penas privativas de liberdade

The current research come from need to analyze possibilities to materialize human dignity principle during freedom curtail penalties fullfilment, abreast finding that internal and international regulations dictate this is the way to be tread by Brazilian penitentiary system, however, verily, indignity, assistance missing, overcrownding, crime, in the end, barbarie reigns. The work will analyze two strands in order to effective the mentioned principle: the state responsability optics, such in internal scope, as internationally, abreast historical omission in satisfy Constitution, international treaties and laws; and also indicating penal execution alternative methods adoption as a way, bringing to fore a case study - called "apaqueano" method. With such desideratum will bring, first of all, considerations about consolidation process of human dignity principle, its concept and essential content. Furthermore, will address historical and philosophical evolution of freedom curtail penalties. As it follows, will be done an approach about constitutional and underconstitutional legislation that disciplines penalties fullfiling in Brazil, analyzing their main aspects, emphasizing the possibility to charge Brazilian state for disregarding mentioned standards. Next, will also be started a critical analyzis about international regulations, which forbids diminishing or cruel penalties or treatments, approaching human rights international treaties and conventions ratified by Braziland their incorporation and effectiveness in local Law, emphasizing monitoring forms and country international charging possibility for disregarding international regulations. Lastly, will advance to the real possibility to materialize human dignity principle in penalties fullfiling, based in a case study verification - the APAC (Associação de Proteção e Assistência aos Condenados) called method, analyzing the various theories about penalties grounding, with emphasis in their ressocializing function, as well as traditional penitentiary systems, and the theory adopted by vernacular order, in desideratum to contribute to improve national penitentiary system chaotic situation

Hemangioendothelioma of bone in a patient with a constitutional supernumerary marker

A 13-year old girl was diagnosed as having a bone hemangioendothelioma. Cytogenetic studies identified the presence of a small supernumerary marker chromosome in this patient. Classical cytogenetic methods using G-, C-, Ag-NOR-banding were supplemented by spectral karyotyping (SKY) and fluorescence in situ hybridization to reveal a karyotype 47,XX,+mar.ish der(22)(D22S543+) karyotype in cells derived from the tumor and lymphocytes. These findings suggest that the supernumerary marker chromosome originated from the proximal centromeric region of chromosome 22, and that trisomy of the region 22q11: was not associated with adverse phenotypic effects, but that the presence of trisomy 22q11 may be related to the development of this tumor. (C) Elsevier B.V., 1999. All rights reserved.

Brazil’s Northeast Financing Constitutional Fund: Differentiated effects on municipal economic growth

This article investigates the effects of the investments made by the Northeast Financing Constitutional Fund (FNE) on the economic growth of that region's municipalities in the decade of 2000. To that end, it uses an empirical framework based on growth models that make it possible to form convergence clubs according to the municipalities' initial development level. The results corroborate the empirical strategy and reveal the existence of four groups of municipalities, in which investment flows through the FNE have different effects on growth. In general, the FNE produces positive and significant effects in most municipalities of the Northeast, except for those whose gross domestic product (GDP) per capita was either very low or very high at the start of the decade, in which case its effects are not significant.

Sacredness of the constitutional text and interpretive heresy: the brazilian supreme court decision on same-sex unions

The paper provides a close lecture of the arguments and methods of legal construction, employed in the extensive individual opinions written by the Justices of the Brazilian Supreme Court in the case which authorized the same sex civil union. After tracing an outline of the legal problem and his possible solutions, we analyze the individual opinions, showing their methodological syncretism, the use of legal methods and arguments in a contradictory way as well the deficiencies in the reasoning. The Justices use legal arguments, but do not meet the requirements of rationality in the decision-making. We have a rhetorical attempt that aims to satisfy the public opinion than to offer a comprehensive and coherent solution according the normative elements of the Brazilian Federal Constitution of 1988.