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.

Vocal complaint in physical education teachers and its association with the cardiovascular system

Background: We examined the vocal complaints and evaluated the correlation between the vocal handicap index (VHI) and heart rate variability (HRV) in physical education teachers. We evaluated 46 teachers. Method: The subjects were investigated regarding voice complaint and the VHI was applied. HRV was recorded at seated rest for ten minutes and it was analyzed in the time, frequency domains, geometric indices and fractal exponents. The three domains of the VHI were correlated with the indices of HRV. Results: The physical education teachers presented a VHI score much below the standard of the physiological normality. There was correlation of the organic domain of the VHI with the NN50 and pNN50 and correlation of the functional domain and organic domain of the VHI with the HF index of HRV. Conclusion: The physical education teachers evaluated reported vocal complaints that affected their function and it is suggested to be related with the cardiac autonomic regulation.

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.

Ballot Initiatives, Constitutional Referendums and Effects on Various Groups

Direct legislation in the United States is a subject that has received a great deal of attention recently. A large proportion of this attention however has been focused on the potential for direct legislation to harm minority groups. An example of this negative potential can be seen in a group of ballot propositions that were presented to California voters in the 1990s. These initiatives can all be interpreted as targeting various minority groups in California. As California is the state which makes use of the ballot initiative more frequently than any other, this is a cause for concern. There are however several other factors that make it unclear whether direct legislation will more often lead to negative outcomes for minorities. There is also a noticeable effect of direct democracy generally on political participation. Several studies have found a positive correlation between the extent that a state uses ballot initiatives and referenda with political participation indexes such as voting rates. These findings complicate the negative attention that ballot initiatives have recently received.

Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice

BACKGROUND: Microarray genome analysis is realising its promise for improving detection of genetic abnormalities in individuals with mental retardation and congenital abnormality. Copy number variations (CNVs) are now readily detectable using a variety of platforms and a major challenge is the distinction of pathogenic from ubiquitous, benign polymorphic CNVs. The aim of this study was to investigate replacement of time consuming, locus specific testing for specific microdeletion and microduplication syndromes with microarray analysis, which theoretically should detect all known syndromes with CNV aetiologies as well as new ones. METHODS: Genome wide copy number analysis was performed on 117 patients using Affymetrix 250K microarrays. RESULTS: 434 CNVs (195 losses and 239 gains) were found, including 18 pathogenic CNVs and 9 identified as "potentially pathogenic". Almost all pathogenic CNVs were larger than 500 kb, significantly larger than the median size of all CNVs detected. Segmental regions of loss of heterozygosity larger than 5 Mb were found in 5 patients. CONCLUSIONS: Genome microarray analysis has improved diagnostic success in this group of patients. Several examples of recently discovered "new syndromes" were found suggesting they are more common than previously suspected and collectively are likely to be a major cause of mental retardation. The findings have several implications for clinical practice. The study revealed the potential to make genetic diagnoses that were not evident in the clinical presentation, with implications for pretest counselling and the consent process. The importance of contributing novel CNVs to high quality databases for genotype-phenotype analysis and review of guidelines for selection of individuals for microarray analysis is emphasised.

The Benefits of Multilingualism for Statutory and Constitutional Interpretation in South Africa

Taking the South African experience as an example, this article considers the interpretive benefits to be reaped from having access to bi- and multilingual versions of a statutory text. The discussion takes place against the backdrop of a history of statutory bi- and multilingualism in the said jurisdiction as well as, at present, constitutional guarantees of language rights and the “parity of esteem” of eleven official languages. It is argued that, if invoked with due discretion and in a non-rigid way, statutory multilingualism can be a boon to statutory and constitutional interpretation. The South African courts – whose traditional approach to statutory inter-pretation has tended to be literalist, formalistic and formulaic – are, generally speaking, to be commended for their supple use of bilingualism as an aid to interpretation over the years. The advent of constitutional multilingualism and the (potential) availability of statutory texts (and the Constitution) in more than two languages, have moreover created conditions conducive to the further development and refinement of reliance on multilingualism in statutory and constitutional interpretation – certain challenges notwithstanding.