Altered cogs of the clock: Insights into the embryonic etiology of spondylocostal dysostosis

Spondylocostal dysostosis (SCDO) is a rare heritable congenital condition, characterized by multiple severe malformations of the vertebrae and ribs. Great advances were made in the last decades at the clinical level, by identifying the genetic mutations underlying the different forms of the disease. These were matched by extraordinary findings in the Developmental Biology field, which elucidated the cellular and molecular mechanisms involved in embryo body segmentation into the precursors of the axial skeleton. Of particular relevance was the discovery of the somitogenesis molecular clock that controls the progression of somite boundary formation over time. An overview of these concepts is presented, including the evidence obtained from animal models on the embryonic origins of the mutant-dependent disease. Evidence of an environmental contribution to the severity of the disease is discussed. Finally, a brief reference is made to emerging in vitro models of human somitogenesis which are being employed to model the molecular and cellular events occurring in SCDO. These represent great promise for understanding this and other human diseases and for the development of more efficient therapeutic approaches.PTDC/BEX-BID/5410/2014, SFRH/BD/146043/2019, UID/BIM/04773/2019info:eu-repo/semantics/publishedVersio

La cooperación y asistencia judicial entre el Tribunal Penal Internacional y los Estados

Trabajo de investigación de la doctoranda Mónica Lucía Cavalcanti de Alburquerque Duarte Mariz-Nóbrega, dirigido por F. Javier Jiménez Fortea y titulado "La cooperación y asistencia judicial entre el Tribunal Penal Internacional y los Estados", defendido el 20 de septiembre de 2007 y en el que obtuvo la calificación de Sobresaliente (10), por unanimidad

Uma complicaçao rara de nefrolitíase

info:eu-repo/semantics/publishedVersio

A comprehensive assessment of the transcriptome of cork oak (Quercus suber) through EST sequencing

Background: Cork oak (Quercus suber) is one of the rare trees with the ability to produce cork, a material widely used to make wine bottle stoppers, flooring and insulation materials, among many other uses. The molecular mechanisms of cork formation are still poorly understood, in great part due to the difficulty in studying a species with a long life-cycle and for which there is scarce molecular/genomic information. Cork oak forests are of great ecological importance and represent a major economic and social resource in Southern Europe and Northern Africa. However, global warming is threatening the cork oak forests by imposing thermal, hydric and many types of novel biotic stresses. Despite the economic and social value of the Q. suber species, few genomic resources have been developed, useful for biotechnological applications and improved forest management. Results: We generated in excess of 7 million sequence reads, by pyrosequencing 21 normalized cDNA libraries derived from multiple Q. suber tissues and organs, developmental stages and physiological conditions. We deployed a stringent sequence processing and assembly pipeline that resulted in the identification of ~159,000 unigenes. These were annotated according to their similarity to known plant genes, to known Interpro domains, GO classes and E.C. numbers. The phylogenetic extent of this ESTs set was investigated, and we found that cork oak revealed a significant new gene space that is not covered by other model species or EST sequencing projects. The raw data, as well as the full annotated assembly, are now available to the community in a dedicated web portal at http://www.corkoakdb.org. Conclusions: This genomic resource represents the first trancriptome study in a cork producing species. It can be explored to develop new tools and approaches to understand stress responses and developmental processes in forest trees, as well as the molecular cascades underlying cork differentiation and disease response.Peer Reviewe

A inclusão de alunos com necessidades educativas especiais: recorte panorâmico no ensino superior português

Em Portugal tem-se registado uma maior procura do Ensino Superior de estudantes com Necessidades Educativas Especiais, aumentando também a atenção às suas necessidades. A literatura demonstra a necessidade de um debate para além da educação pré-universitária, para que as práticas adotadas sejam efetivamente inclusivas. A presente investigação pretende contribuir para o aprofundamento do conhecimento na temática, através da análise do enquadramento legal de apoio a alunos/as com Necessidades Educativas Especiais no Ensino Superior Privado; da análise das perceções que a comunidade académica possui acerca da inclusão de estudantes com Necessidades Educativas Especiais no Ensino Superior; e da realização de ações formativas para desmistificação de algumas crenças face ao indivíduo com Necessidades Educativas Especiais. O estudo decorreu em três etapas, sendo que na primeira analisaram-se 25 documentos, na segunda participaram 160 alunos/as, 20 docentes e 17 não docentes, e na terceira participaram 48 alunos/as, seis docentes e quatro não docentes. Os respetivos instrumentos de avaliação utilizados foram a Grelha de análise documental, para os regulamentos das Instituições de Ensino Superior privado, o Questionário sobre a perceção que os membros da academia possuem face à inclusão de estudantes com Necessidades Educativas Especiais e o Questionário de avaliação do Workshop. Os resultados sugerem que algumas Instituições de Ensino Superior Privado têm elaborado regulamentação específica de apoio aos estudantes em questão; que os membros da academia encontram-se sensibilizados para a inclusão; e que a ação formativa sobre a temática teve um impacto positivo nos participantes, contribuindo para a desmistificação de crenças e aprofundamento do seu conhecimento.In Portugal there has been a greater demand for Higher Education for students with Special Educational Needs, also increasing attention to their needs. The literature demonstrates the need for a debate beyond pre-university education, so that the practices adopted are effectively inclusive. The present investigation intends to contribute to the deepening of knowledge on the subject, through the analysis of the legal framework of support to students with Special Educational Needs in Private Higher Education; the analysis of the perceptions that the academic community has about the inclusion of students with Special Educational Needs in Higher Education; and carrying out training actions to demystify some beliefs towards the individual with Special Educational Needs. The study took place in three stages, with 25 documents analyzed in the first, 160 students, 20 teachers and 17 non-teachers participated in the second, and 48 students, six teachers and four non-teachers participated in the third. The respective assessment instruments used were the Document Analysis Grid, for the regulations of private Higher Education institutions, the Questionnaire on the perception that members of the academy have face the inclusion of students with Special Educational Needs and the Assessment Questionnaire of the workshop. The results suggest that some Private Higher Education Institutions have developed specific regulations to support the students in question; that members of the academy are sensitized to inclusion; and that the training action on the theme had a positive impact on the participants, contributing to demystifying beliefs and deepening their knowledge

Policonsumo simultâneo de drogas entre estudantes de graduação de ciências da saúde de sete universidades em cinco países da América Latina e um país do Caribe: implicações de gênero, legal e sociais

8 páginasEl objetivo de este estudio fue comprender los patrones de policonsumo simultáneo de sustancias psicoactivas y sus implicaciones de género, legales y sociales, en estudiantes de primer y segundo año de las facultades de ciencias de la salud/ciencias médicas, en siete universidades de cinco países latinoamericanos, Colombia, Nicaragua, Chile, Brasil y El Salvador, y un país caribeño, Jamaica. El diseño fue un corte transversal. Las combinaciones de alcohol + tabaco y de alcohol + marihuana fueron las mas reportadas en todas las universidades, a excepción de alcohol + tabaco en Jamaica. Los factores asociados al policonsumo más referidos fueron "tener relaciones sexuales inesperada" en la universidad de Brasil, "tener relaciones sexuales sin protección" en las universidades de Chile, Colombia y Nicaragua, "tener problemas con su pareja sentimental" en la universidad de Jamaica, y "ausentarse de clases" en la universidad de El Salvador. Tres entornos se relacionaron, de manera positiva o negativa, con el policonsumo simultáneo de sustancias psicoactivas: estudiantil, familiar y de comportamiento sexual.The objective of this study was to understand patterns of simultaneous polydrug use of psychoactive substances and its gender, legal and social implications, among first and second year undergraduate students in health sciences/medical sciences faculties from six universities in five Latin American countries, Colombia, Nicaragua, Chile, Brazil, and El Salvador, and one Caribbean country, Jamaica. The study design was cross-sectional. The combinations of alcohol + tobacco and alchol + cannabis were the most frequently reported in all universities, with the exception of alcohol + tabaco in Jamaica. The factors associated to polidrug use most frequently mentioned were "to have unexpected sexual relationships" in the Brazilian university, "to have unprotected sex" in the universities of Chile, Colombia and Nicaragua, "to have problems with his o her sentimental partner" in the Jamaican university, and "to skip classes" in the university of El Salvador. Three environments were related, positively or negatively, with simultaneous polydrug use of psychoactive substances: academic, familiar and sexual behavioral

Gerencia social en América Latina: Enfoques y experiencias innovadoras

Conjunto de trabajos sobre experiencias innovadoras y diferentes enfoques de gerencia social presentados en el Primer Seminario Latinoamericano sobre Gerencia Social Innovadora, que tuvo lugar en Asunción, Paraguay, 18 y 19 de octubre de 1999

Gerencia social en América Latina: Enfoques y experiencias innovadoras

Conjunto de trabajos sobre experiencias innovadoras y diferentes enfoques de gerencia social presentados en el Primer Seminario Latinoamericano sobre Gerencia Social Innovadora, que tuvo lugar en Asunción, Paraguay, 18 y 19 de octubre de 1999

Brazilian Flora 2020: Leveraging the power of a collaborative scientific network

International audienceThe shortage of reliable primary taxonomic data limits the description of biological taxa and the understanding of biodiversity patterns and processes, complicating biogeographical, ecological, and evolutionary studies. This deficit creates a significant taxonomic impediment to biodiversity research and conservation planning. The taxonomic impediment and the biodiversity crisis are widely recognized, highlighting the urgent need for reliable taxonomic data. Over the past decade, numerous countries worldwide have devoted considerable effort to Target 1 of the Global Strategy for Plant Conservation (GSPC), which called for the preparation of a working list of all known plant species by 2010 and an online world Flora by 2020. Brazil is a megadiverse country, home to more of the world's known plant species than any other country. Despite that, Flora Brasiliensis, concluded in 1906, was the last comprehensive treatment of the Brazilian flora. The lack of accurate estimates of the number of species of algae, fungi, and plants occurring in Brazil contributes to the prevailing taxonomic impediment and delays progress towards the GSPC targets. Over the past 12 years, a legion of taxonomists motivated to meet Target 1 of the GSPC, worked together to gather and integrate knowledge on the algal, plant, and fungal diversity of Brazil. Overall, a team of about 980 taxonomists joined efforts in a highly collaborative project that used cybertaxonomy to prepare an updated Flora of Brazil, showing the power of scientific collaboration to reach ambitious goals. This paper presents an overview of the Brazilian Flora 2020 and provides taxonomic and spatial updates on the algae, fungi, and plants found in one of the world's most biodiverse countries. We further identify collection gaps and summarize future goals that extend beyond 2020. Our results show that Brazil is home to 46,975 native species of algae, fungi, and plants, of which 19,669 are endemic to the country. The data compiled to date suggests that the Atlantic Rainforest might be the most diverse Brazilian domain for all plant groups except gymnosperms, which are most diverse in the Amazon. However, scientific knowledge of Brazilian diversity is still unequally distributed, with the Atlantic Rainforest and the Cerrado being the most intensively sampled and studied biomes in the country. In times of “scientific reductionism”, with botanical and mycological sciences suffering pervasive depreciation in recent decades, the first online Flora of Brazil 2020 significantly enhanced the quality and quantity of taxonomic data available for algae, fungi, and plants from Brazil. This project also made all the information freely available online, providing a firm foundation for future research and for the management, conservation, and sustainable use of the Brazilian funga and flora