Genomic and darwinian medicine

Genomic and darwinian medicine deal with the application of hereditary and evolutionary principles for the understanding of health and disease. The progress in molecular and bioinformatic knowledge is making possible through a holistic approach to biological phenomena and one aspect of it, host-pathogen coevolution, is discussed with examples of research performed by our group. The search for the etiology of genetic diseases can focus on simple traits with mendelian inheritance or in more complex multifactorial characteristics, as well as in nuclear or mitochondrial DNA genes. Also important is the investigation of genetically conditioned variation in response to drugs (pharmacogenomics) and unorthodox environmental effects (epigenetics). Every day the genome of a given cell receives one million lesions which should be repaired. Defects in repair mechanisms can lead to diseases, one important category of them being neurological disorders. The association between intronic inversions which lead to severe hemophilia A and the prevalence of Factor VIII inhibitors in these patients was also considered using information obtained by the Porto Alegre group and those of colleagues living in other cities. The fi nal message emphasizes the need for an evolutionary approach to fully understand pathologic processes and their management.Asociación de Antropología Biológica de la República Argentin

Darwinism and the molecular revolution

The main characteristics of Darwin's life and work will be examined, as well as the developments which occurred after his death, especially neodarwinism and the synthetic theory of organic change. In which ways the extraordinary progress made in the field of genetics and molecular biology in the last decades affected our ideas about evolution? This question will be considered using information recently obtained concerning the human genome, and the research performed by our group in a very interesting autosome segment of this genome, the Low Density Lipoprotein Receptor, especially its untranslated 3' region. The conclusion is that Darwin's ideas have been considerably enriched by this new knowledge, but that his basic concepts remain unchanged.Asociación de Antropología Biológica de la República Argentina (AABRA

Molecular evolution: intergenomic comparisons and differential evolutionary rates

How can the variability present among different genomes, diverse regions within the same genome, among or within species be characterized and quantified? What factors influence this variability? Research of our group is aiming at answering these questions. Two kinds of organisms and genetic markers will be considered in the present communication. 1. Twenty-one species of the genus Passiflora, studied in relation to internal transcriber spacers of nuclear ribosomal DNA, as well as the trnL-trnF and psbA- trnH chloroplast spacers; and 2. Twelve Alu insertion polymorphisms, blood group and protein markers among four South American Indian human populations. Characteristics of the DNA regions studied, diversity, rates of change and intersystem comparisons will be examined. Stress will be given to the dialectical relationship of permanence or change in biological systems.Asociación de Antropología Biológica de la República Argentin

Carcinoma mucoepidermoide della base della lingua

Mucoepidermoid carcinoma (MEC) is the most common malignant, locally-invasive tumour of the salivary glands, and accounts for approximately 35% of all malignancies of the major and minor salivary gland. Minor salivary glands are scattered in different areas of the oral cavity such as palate, retromolar area, floor of the mouth, buccal mucosa, lips and tongue. MECs of tongue base are not common. We present a rare case of MEC localised at the tongue base in a 42-year-old Caucasian woman and discuss the histopathological types, management and review the literature. Adequate intra-oral excision was the treatment of choice in this case and in low-grade MEC. Prognosis of MEC is a function of the histological grade, adequacy of excision and clinical staging. © 2015, Pacini Editore s.r.l. All rights reserved

Reduced combustion mechanism for fire with light alcohols

The need for sustainable energy has incentivized the use of alternative fuels such as light alcohols. In this work, reduced chemistry mechanisms for the prediction of fires (pool fire, tank fire, and flash fire) for two primary alcohols—methanol and ethanol—were developed, aiming to integrate the detailed kinetic model into the computational fluid dynamics (CFD) model. The model accommodates either the pure reactants and products or other intermediates, including soot precursors (C2H2, C2H4, and C3H3 ), which were identified via sensitivity and reaction path analyses. The developed reduced mechanism was adopted to predict the burning behavior in a 3D domain and for the estimation of the product distribution. The agreement between the experimental data from the literature and estimations resulting from the analysis performed in this work demonstrates the successful application of this method for the integration of kinetic mechanisms and CFD models, opening to an accurate evaluation of safety scenarios and allowing for the proper design of storage and transportation systems involving light alcohols

On the prediction of the ignition delay time of bio-syngas

The growing energy demand and more stringent environmental regulations have raised concerns about the production and use of alternative fuels. Due to the potential application of the resulting gaseous streams in turbines as an energy source, slow pyrolysis of biomass including municipal waste have been extensively studied under various situations and atmospheric conditions. Nevertheless, the combustion characteristics of these complex mixtures and the chemical interactions between their constituent species are still not fully understood. Hence, the accuracy of commonly used empirical-based mixing rules for the estimation of the overall reactivity, such as laminar burning velocity and ignition delay time is inefficient. This work is addressed to the numerical prediction of the Ignition Delay Time, IDT, of bio-syngas mixtures at different fuel compositions, stoichiometries, temperature, and pressure, by means of a detailed kinetic model. A simplified tool for preliminary evaluation of the overall reactivity with respect to the above-mentioned conditions was proposed for these mixtures, as well, providing an effective feature for safety and management evaluations

Delineating a new critical region for juvenile myoclonic epilepsy at the 22q11.2 chromosome

No abstract availabl

Post-Accident Analysis of Vapour Cloud Explosions in Fuel Storage Areas

A Vapour cloud explosion which occurred in a large fuel storage area close to the harbour of Naples (Italy) was analysed by different methods. Useful 'experimental data' were obtained by the post-accident damage analysis (minimum overpressure experienced by different items) and by the seismograms recorded at different stations at the time of explosion (explosion duration and intensity). The analysis of the seismic data allowed a first estimate of the amount of vaporized fuel. A more accurate estimate was obtained by modelling the rate of evaporation of the liquid fuel and the vapour cloud dispersion in the surrounding atmosphere. The dispersion calculation furnished the input data for the CFD gas explosion simulator AutoReagas and constituted the basis for a sensitivity analysis of the results to the amount of fuel involved in the explosion. The results obtained with the different methods above were critically discussed and compared to the results obtained with the Multi-Energy method

A ANTROPOLOGIA NO BRASIL: É A INTERDISCIPLINARIDADE POSSÍVEL?

The history of Anthropology in Brazil was divided in three phases: 1) The pioneers, 2) Formative period, and 3) Contemporaneous phase. The main events and examples of paradigmatic persons were presented for the two first periods, while for the third a list of all the presidents of the Brazilian Association of Anthropology was provided. A similar approach was followed in relation to the subareas in which Anthropology is traditionally subdivided: Social/Cultural Anthropology, Archaeology, Linguistics, and Physical/Biological Anthropology. The question asked at the end was whether the interaction among these subareas is possible. The answer is that a really interdisciplinary approach is difficult, but seems to be the best way for frontier research. Therefore, a suggestion is made that Brazilian Postgraduate Programs in Anthropology should seek specialists in the four subareas, through the establishment of clearly interdisciplinary projects. Keywords: History of Anthropology, Anthropology in Brazil , Interdisciplinarity.A história da Antropologia no Brasil foi dividida em três fases: 1. Os pioneiros; 2. Período formativo; e 3. Fase contemporânea. Os principais eventos e exemplos de figuras paradigmáticas foram apresentados com relação aos dois primeiros períodos, enquanto para o terceiro foi fornecida uma lista de todos os presidentes da Associação Brasileira de Antropologia. A seguir desenvolveu-se abordagem similar para as quatro subáreas em que a Antropologia é tradicionalmente subdividida: Antropologia Social/Cultural; Arqueologia; Linguística; e Antropologia Física/Biológica. A pergunta feita no final é se a interação entre essas subáreas é possível. A resposta é de que uma abordagem verdadeiramente interdisciplinar é difícil, mas parece ser o melhor caminho para pesquisas de ponta. Sugere-se, portanto, uma abertura maior dos Programas de Pós-Graduação em Antropologia brasileiros à contratação de especialistas nas quatro subáreas, através de montagens de projetos de cunho nitidamente interdisciplinares.   Palavras chaves: História da Antropologia; Antropologia no Brasil; Interdisciplinaridade

Diversity of two short tandem repeat loci (CD4 and F13A1) in three Brazilian ethnic groups

Two microsatellites (CD4 and F13A1) were investigated in seven Brazilian populations: one group each of European- and African-derived subjects from Porto Alegre, southern Brazil, and five Amerindian tribes (three Tupi-Monde speaking [Gaviao, Surui, and Zoro], one Macro-Ge [Xavante], and one Carib [Wai-Wai]). For both markers, neo-Brazilians presented with a high diversity, but Amerindians showed a low level of variability. Genotype frequency distributions were heterogeneous among populations, the only exception being similar CD4 frequencies in Afro- and Euro-Brazilians. Gene diversity analysis revealed that most of the total variation is due to intrapopulational diversity in all populations, Because of the high information content of these markers in Afro- and Euro-Brazilians, these systems are most appropriate for forensic analyses. The comparison among Brazilian and other world populations revealed high similarity among populations of the same ethnic group, indicating a high discriminative power for these markers