Aneuploidy Tolerance in a Polyploid Organ

Endopolyploid cells (hereafter - polyploid cells), which contain whole genome duplications in an otherwise diploid organism, play vital roles in development and physiology of diverse organs such as our heart and liver. Polyploidy is also observed with high frequency in many tumors, and division of such cells frequently creates aneuploidy (chromosomal imbalances), a hallmark of cancer. Despite its frequent occurrence and association with aneuploidy, little is known about the specific role that polyploidy plays in diverse contexts. Using a new model tissue, the Drosophila rectal papilla, we sought to uncover connections between polyploidy and aneuploidy during organ development. Our lab previously discovered that the papillar cells of the Drosophila hindgut undergo developmentally programmed polyploid cell divisions, and that these polyploid cell divisions are highly error-prone. Time-lapse studies of polyploid mitosis revealed that the papillar cells undergo a high percentage of tripolar anaphase, which causes extreme aneuploidy. Despite this massive chromosome imbalance, we found the tripolar daughter cells are viable and support normal organ development and function, suggesting acquiring extra genome sets enables a cell to tolerate the genomic alterations incurred by aneuploidy. We further extended these findings by seeking mechanisms by which the papillar cells tolerated this resultant aneuploidy.

From brown envelopes to community benefits: the co-option of planning gain agreements under deepening neoliberalism

The provision of physical and social infrastructure in the form of roads, green spaces and community facilities has traditionally been provided for by the state through the general taxation system. However, as the state has been transformed along more neoliberal lines, the private sector is increasingly relied upon to deliver public goods and services. Planning gain agreements have flourished within this context by offering another vehicle through which local facilities are privately funded. Whilst these agreements reflect the broader dynamics of neoliberalism, they are commonly viewed as a tool which can be employed to challenge these very dynamics by empowering local communities to secure more just planning outcomes. This paper counters such claims. Based on evidence gathered from 80 interviews with planners, councillors, developers and community groups in Ireland, the paper demonstrates how planning gain agreements have been strategically redeployed by the holders of political and economic power to serve their own ends. In seeking to understand why and how this has occurred, specific consideration is given to the changing power dynamics between the state and private capital under neoliberalism. The paper highlights how institutional arrangements have enabled developers to infiltrate the political sphere in more subtle and implicit ways than ever before. We conclude by arguing that planning gain must be understood as a mechanism which has been manipulated in ways which essentially work to preserve and enhance, rather than redress, existing power imbalances in the planning system by facilitating large scale transfers of wealth upwards in society.

Self-perceptions of the role of the planner

The role of the planning practitioner has received considerable attention in a diverse range of theoretical and empirical debates within the broad spectrum of planning scholarship from normative debates surrounding the planner's role in society, to more empirical investigations into the skills, attributes, and evolving nature of planning practitioners. Fundamental questions surrounding the role and purpose of planners have also entered into more mainstream discussions as the democratic nature of the planning system has been consistently undermined by allegations of misconduct, corruption, and incompetence. Despite the broad range of literature and debate which centres on the role of the planner, relatively few studies have explored the views of planning practitioners themselves, making it difficult to judge whether the ideas of planning academics are actually shared by those in the field. In this paper we seek to address this particular gap and argue that such insights are critical in determining the extent to which planning practitioners serve to challenge, maintain, or reinforce existing power imbalances in the planning system. The methodology consists of a series of qualitative interviews with twenty local authority planners working throughout the Greater Dublin Area, Ireland. The results suggest that planners' self-perceptions of their role tend to reflect traditional pluralist and managerialist perspectives. More broadly, the results suggest that the role orientations of contemporary planners are being shaped by dominant discourses in current planning ideology — namely, collaborative and participatory approaches

Specific JAK2 mutation (JAK2R683) and multiple gene deletions in Down syndrome acute lymphoblastic leukemia

Children with Down syndrome (DS) have a greatly increased risk of acute megakaryoblastic leukemia (AMKL) and acute lymphoblastic leukemia (ALL). Both DS-AMKL and the related transient myeloproliferative disorder (TMD) have GATA1 mutations as obligatory, early events. To identify mutations contributing to leukemogenesis in DS-ALL, we undertook sequencing of candidate genes, including FLT3, RAS, PTPN11, BRAF, and JAK2. Sequencing of the JAK2 pseudokinase domain identified a specific, acquired mutation, JAK2R683, in 12 (28%) of 42 DS-ALL cases. Functional studies of the common JAK2R683G mutation in murine Ba/F3 cells showed growth factor independence and constitutive activation of the JAK/STAT signaling pathway. High-resolution SNP array analysis of 9 DS-ALL cases identified additional submicroscopic deletions in key genes, including ETV6, CDKN2A, and PAX5. These results infer a complex molecular pathogenesis for DS-ALL leukemogenesis, with trisomy 21 as an initiating or first hit and with chromosome aneuploidy, gene deletions, and activating JAK2 mutations as complementary genetic events. (Blood. 2009; 113: 646-648)

Deletions of CDKN2C in Multiple Myeloma: Biological and Clinical Implications

Purpose: Deletions of chromosome 1 have been described in 7% to 40% of cases of myeloma with inconsistent clinical consequences. CDKN2C at 1p32.3 has been identified in myeloma cell lines as the potential target of the deletion. We tested the clinical impact of 1p deletion and used high-resolution techniques to define the role of CDKN2C in primary patient material.Experimental Design: We analyzed 515 cases of monoclonal gammopathy of undetermined significance (MGUS), smoldering multiple myeloma (SMM), and newly diagnosed multiple myeloma using fluorescence in situ hybridization (FISH) for deletions of CDKN2C. In 78 myeloma cases, we carried out Affymetrix single nucleotide polymorphism mapping and U133 Plus 2.0 expression arrays. In addition, we did mutation, methylation, and Western blotting analysis.Results: By FISH we identified deletion of 1p32.3 (CDKN2C) in 3 of 66 MGUS (4.5%), 4 of 39 SMM (10.3%), and 55 of 369 multiple myeloma cases (15%). We examined the impact of copy number change at CDKN2C on overall survival (OS), and found that the cases with either hemizygous or homozygous deletion of CDKN2C had a worse OS compared with cases that were intact at this region (22 months versus 38 months; P = 0.003). Using gene mapping we identified three homozygous deletions at 1p32.3, containing CDKN2C, all of which lacked expression of CDKN2C. Cases with homozygous deletions of CDKN2C were the most proliferative myelomas, defined by an expression-based proliferation index, consistent with its biological function as a cyclin-dependent kinase inhibitor.Conclusions: Our results suggest that deletions of CDKN2C are important in the progression and clinical outcome of myeloma.

Abnormalities on 1q and 7q are associated with poor outcome in sporadic Burkitt's lymphoma. A cytogenetic and comparative genomic hybridization study.

Comparative genomic hybridization (CGH) studies have demonstrated a high incidence of chromosomal imbalances in non-Hodgkin's lymphoma. However, the information on the genomic imbalances in Burkitt's Lymphoma (BL) is scanty. Conventional cytogenetics was performed in 34 cases, and long-distance PCR for t(8;14) was performed in 18 cases. A total of 170 changes were present with a median of four changes per case (range 1-22). Gains of chromosomal material (143) were more frequent than amplifications (5) or losses (22). The most frequent aberrations were gains on chromosomes 12q (26%), Xq (22%), 22q (20%), 20q (17%) and 9q (15%). Losses predominantly involved chromosomes 13q (17%) and 4q (9%). High-level amplifications were present in the regions 1q23-31 (three cases), 6p12-p25 and 8p22-p23. Upon comparing BL vs Burkitt's cell leukemia (BCL), the latter had more changes (mean 4.3 +/- 2.2) than BL (mean 2.7 +/- 3.2). In addition, BCL cases showed more frequently gains on 8q, 9q, 14q, 20q, and 20q, 9q, 8q and 14q, as well as losses on 13q and 4q. Concerning outcome, the presence of abnormalities on 1q (ascertained either by cytogenetics or by CGH), and imbalances on 7q (P=0.01) were associated with a short survival.

Rôle des nutriments dans l’enracinement et le rendement en fruits chez la chicouté (Rubus chamaemorus)

La chicouté (Rubus chamaemorus L.) pousse naturellement dans les tourbières ombrotrophes. La culture de la chicouté dans les tourbières en fin d’exploitation serait très intéressante afin de maintenir des activités économiques sur ces sites ainsi que d’améliorer la disponibilité de ce petit fruit pour une future commercialisation. L’implantation de cette culture fait toutefois face à certains problèmes tels la faible survie des boutures au cours de la première année et un rendement fruitier très variable. Des essais de fertilisation et d’application d’auxine ont été réalisés pour augmenter la production de racines sur les boutures de rhizome au moment de la plantation afin de réduire leur mortalité. La fertilisation a permis d’augmenter la longueur des racines, mais seulement à la fin de la saison. Les fertilisants ont également stimulé la croissance des plants. Par contre, les concentrations d’auxine utilisées ont entraîné une très forte mortalité des boutures de chicouté. Aucun de ces traitements n’a permis d’augmenter la survie des boutures lors de la plantation. Afin de mieux comprendre les limitations nutritives liées aux faibles rendements fruitiers, nous avons utilisé une analyse compositionnelle (CND) nous permettant d’identifier les débalancements nutritifs. Cette analyse a montré que les parcelles moins productives sont caractérisées par une concentration foliaire plus élevée en manganèse, fer, soufre et cuivre. Les résultats de ce projet de maîtrise vont permettre d’améliorer la régie de fertilisation lors de la plantation de la chicouté en tourbière résiduelle, mais d’autres recherches doivent être menées afin de réduire la mortalité des boutures lors de la plantation.

Planificación económica y control democrático del mercado

El cuestionamiento de las relaciones capitalistas de producción debe surgir a partir de su tendencia inherente a los desequilibrios y a la irracionalidad económica y no desde algún pre-juicio ideológico o político. En este contexto, la planificación económica se presenta como necesaria en la medida en que se requiera asegurar una autonomía humana de decisión con respecto a la distribución del ingreso, el acceso al empleo y la protección del medio ambiente. A partir de la constatación de este hecho, la planificación no sustituye a las relaciones mercantiles sino que cumple la función de garantizar una tendencia al equilibrio sobre la base de las relaciones mercantiles, lo que ningún automatismo del mercado puede garantizar. Se propone un principio de delimitación entre la planificación y la autonomía de las empresas (la reproducción de la vida humana), principio ampliable a la delimitación entre el Estado y las actividades de los grupos autónomos y de los mismos sujetos en general. Abstract The questioning of the capitalist relations of production must come from their inherent tendency to irrationality and economic imbalances and not from any ideological or political prejudice. In this context, economic planning is as necessary as it is required to ensure a human decision-making autonomy with respect to income distribution, access to employment and environmental protection. From the observation of this fact, planning is not a substitute for market relations but serves to ensure a tendency to balance on the basis of market relations, so no automatic of the market can guarantee. The article proposes a principle of demarcation between the planning and autonomy for enterprises (the reproduction of human life), expandable to top the demarcation between the state and the activities of autonomous groups and the same subjects in general.

Comportamentos alimentares e saúde oral em voleibolistas

Introdução e objectivos: A saúde oral em atletas é parte essencial para a saúde geral, sendo um factor determinante para a qualidade de vida e desempenho desportivo. Logo, um bom estado de saúde só existirá se a cavidade oral se encontrar ausente de patologias. Os desequilíbrios nutricionais possuem efeitos sobre a cavidade oral, condicionando assim a qualidade de vida e desempenho do atleta. Desta forma, o excesso de ingestão de alguns alimentos podem ser factores de risco para a saúde, tendo conta em que, a etiologia da cárie dentária está relacionada com a ação de microorganismos orais que produzem ácidos orgânicos, a partir do metabolismo dos hidratos de carbono. O objectivo deste estudo foi avaliar a saúde oral bem como os hábitos alimentares e o uso de protetores bucais durante a prática desportiva. Participantes e Métodos: Foram observados 55 atletas de voleibol entre os 15 e 18 anos de ambos os géneros, do clube de voleibol Academia José Moreira e Leixões. Tratou-se de um estudo transversal, no qual foi realizado exame clínico intraoral (índice de cárie CPOd, indice de erosão dentária BEWE) e preenchimento de questinário, em que os indivíduos foram caracterizados em 5 componentes: dados sociodemográficos (idade, peso e estatura), dados sobre perceção de saúde, dados sobre comportamentos de saúde oral, dados sobre prática desportiva e dados sobre comportamentos alimentares (questionário semi-quantitativo de frequência alimentar). A análise estatística descritiva e inferencial dos dados recolhidos foi realizada com o auxílio do programa informático SPSS, versão 23.0. Resultados: Os hábitos de saúde oral não são os mais adequados e a percentagem de atletas que visita o médico dentista é elevada para “só quando tem dores” ou “ocasionalmente”. A média do CPOD geral foi de 4,22 ± 4,55. Não houve diferenças estatisticamente significativas (p>0,05) entre o CPOD geral e o IMC. Nenhum dos atletas usa protetor bucal durante a prática desportiva. Os alimentos mais consumidos foram a carne, fruta, leite, peixe e, biscoitos, bolos e bolachas; e os menos consumidos foram as bebidas alcoólicas, mel ou compotas e café. Conclusão: Os hábitos de higiene oral são um melhor indicador do que o IMC para a presença de cárie. Não há relação direta entre índice CPOD e IMC. Seria importante prestar mais informação sobre vantagens do uso de protetores bucais junto dos atletas e de treinadores bem como, esclarecer que a consistência e as propriedades sensoriais ligadas à textura e à consistência dos alimentos na superfície dentária interferem com a cárie.

O processo de organização social do Grupo Herança Viva de Chapecó-SC e suas estratégias de ação conjunta

The consequences resulting from economic modernization model generated social and environmental imbalances, resulting in the exclusion and social isolation, perceived consequences in the agricultural sector. When studying social organizations, tends to see how they keep their forward cooperation processes all a company incorporated by the appreciation of individualism and competition. The overall objective for this research was to analyze the organizational dynamics of Agroecology Group Heritage Viva Chapecó, Santa Catarina, in order to identify the strengths and threats and collaborate in this way for preparation of action strategies for sustainability. The selected group is based on the principles of agroecology for the conduct of their agricultural production systems, avoiding the use of agrochemicals, proven through the use of participatory certification seal Ecovida Network, and the products sold mainly in street fairs in the city of chapecó. To fulfill such a proposal were consulted the minutes of meetings and questionnaires with farmers to assess the dynamics of cooperation among its members, through the understanding of their social capital and social network analysis (SNA). To extend the study of the group and its members was adopted methodological approach of action research where activities were developed to identify strengths and weaknesses and contribute to its organizational restructuring, resulting in the construction, carried out by farmers, the guiding principles of the Living Heritage Group will contribute to the decision-making and strengthen their identity. The survey also brought the group is inserted in the Social Transition Agroecology therefore change the current paradigm is not inserted only in the alternative model of production, but in the form of organization of social actors and their role in the marketing process of their products, in discussing the scenario of food supply chains.

Whiteness and news: the interlocking social construction of "realities"

This dissertation examines how mainstream U.S. journalism consistently serves white racial interests and the racial status quo, or what I call white incumbency, despite its push for diversity and its stated aims to improve coverage of nonwhite communities. It is based on an in-depth ethnographic study of two daily newspapers and extensive one-on-one interviews with 61 journalists. I found that although journalists strongly identify with the need for more diverse coverage in newspapers, they emphasize individual and personal stories that avoid recognition of historical racial power imbalances, exhibiting what Ruth Frankenberg calls power-evasive race cognizance. Journalists also demonstrate a number of often contradictory identifications and self-understandings about themselves and their work, such as commitments to diversity and not taking sides, but these conflicts are almost always resolved in favor of white incumbency. Journalistic conventions and practices, such as the watchdog function and its emphasis on public institutions, routinely produce stories that replay and reinforce racial hegemony by portraying nonwhites as problems or people seeking “special privileges.” Also, journalistic repertoires about those conventions and practices avoid interrogations of journalists’ ongoing complicity in the maintenance of white incumbency.

Incluir e diferenciar - uma prática em contextos educativos

Relatório de estágio apresentado à Escola Superior de Educação de Paula Frassinetti para a obtenção de grau de mestre em Educação Pré-escolar e em Ensino do 1º Ciclo do Ensino Básico

Modelagem eletroquímica e do distúrbio ácido-básico em atletas de karatê participantes do campeonato mundial WKO 2014

The objective of this study was to analyze the electrochemical and acid-base disorders in high performance athletes during the World Karate Championship hosted by the WKO (World Karate Organization) in 2014. In this study 19 male athletes were analyzed (age 34 ± 8), black belts and with over 5 years of experience in the sport. Capillary blood samples from the digital pulp of the finger were collected in three stages: rest, 5 minutes after and 10 minutes after fighting (kumite). The sample was analyzed using blood gas analyzer GEM Premier 3000, using the parameters pH, Na+, K+, Ca2+, lactate e HCO3−. The values related to acid-base disturbance presented statistical differences (p <0.05) in most of the collected moments. The lactate levels found were 2.77 ± 0.97mmol / L in rest, 6.57 ± 2.1 for 5 minutes after and 4.06 ± 1.55 for 10 minutes after combat. The samples collected for the electrolytic markers showed no statistical differences in their values (p <0.05). Through the data collected, we conjecture that the sport can be characterized as a high-intensity exercise and with a predominance of the glycolytic system. The analysis of acid-base disturbance is an efficient method to assist in the control of training loads.

A 1.77 Mb deletion in 3p26.3 encompassing CNTN6 and CNTN4 genes: case report

Chromosome microarray analysis is a powerful diagnostic tool and is being used as a first-line approach to detect chromosome imbalances associated with intellectual disability, dysmorphic features and congenital abnormalities. This test enables the identification of new copy number variants (CNVs) and their association with new microdeletion/microduplication syndromes in patients previously without diagnosis. We report the case of a 7 year-old female with moderate intellectual disability, severe speech delay and auto and hetero aggressivity with a previous 45,XX,der(13;14)mat karyotype performed at a younger age. Affymetrix CytoScan 750K chromosome microarray analysis was performed detecting a 1.77 Mb deletion at 3p26.3, encompassing 2 OMIM genes, CNTN6 and CNTN4. These genes play an important role in the formation, maintenance, and plasticity of functional neuronal networks. Deletions or mutations in CNTN4 gene have been implicated in intellectual disability and learning disabilities. Disruptions or deletions in the CNTN6 gene have been associated with development delay and other neurodevelopmental disorders. The haploinsufficiency of these genes has been suggested to participate to the typical clinical features of 3p deletion syndrome. Nevertheless inheritance from a healthy parent has been reported, suggesting incomplete penetrance and variable phenotype for this CNV. We compare our patient with other similar reported cases, adding additional value to the phenotype-genotype correlation of deletions in this region.

Deficiencias minerales en bovinos para carne: diagnóstico, caracterización y control

La demanda de una producción de alimentos cada vez mayor a nivel mundial sumado a la tecnificación y al ritmo acelerado del progreso de las explotaciones agropecuarias actuales hacen que el ganado deba soportar elevadas presiones de producción aumentando los requerimientos de nutrientes. Este es el caso de los minerales considerados actualmente elementos esenciales para los animales, aunque tradicionalmente fueron definidos como los nutrientes pobres de la nutrición y alimentación animal. Actualmente se ha demostrado con evidencia clínica y productiva, el importante rol metabólico de los minerales en el animal sano y productivo, como también se ha definido qué elemento mineral y porcentaje del mismo es requerido para el normal funcionamiento del organismo. Los macro-minerales (calcio, magnesio, fósforo, sodio, potasio, cloro y azufre) y los oligo-minerales (cobre, zinc, hierro, selenio, cobalto, iodo, manganeso, molibdeno y cromo) son elementos esenciales y necesarios para transformar la proteína y la energía de los alimentos en componentes del organismo o en productos animales como leche, carne, crías, piel, lana. Además, ayudan al organismo a combatir las enfermedades, manteniendo al animal en buen estado de salud. Se ha considerado a los minerales como el tercer grupo limitante en la nutrición animal, siendo a su vez, el que mayor potencial y menor costo tiene para incrementar la producción del ganado. Los minerales desempeñan funciones tan importantes como ser constituyentes de la estructura ósea y dental, de tejidos blandos y líquidos corporales. Están involucrados en el funcionamiento celular, siendo activadores de más de trescientas enzimas, constituyentes esenciales de vitaminas, hormonas y pigmentos respiratorios y facilitando la actividad de los microorganismos del rumen. Cuando el aporte de minerales en la ración no es el adecuado en calidad y/o cantidad se originan las deficiencias minerales, encuadradas dentro de las enfermedades metabólicas o enfermedades de la producción. Estas han sido informadas en casi todo el mundo y son responsables de importantes pérdidas económicas en los rodeos de bovinos para carne. Las deficiencias y/o desequilibrios minerales pueden causar los siguientes trastornos en los animales: bajo porcentaje de parición, mayor número de servicios por concepción, abortos, retenciones placentarias, incremento del intervalo entre partos, baja producción de leche, menor peso al nacimiento y al destete, menor porcentaje de destete, menor ganancia de peso, mayor incidencia de enfermedades infecciosas, fracturas espontáneas, diarrea, deformación de huesos y mortandad. Así cobra importancia el diagnóstico mediante el análisis de la sangre de los animales, del pasto y el agua que consumen y la caracterización de estas deficiencias en primarias o secundarias con el objetivo de poder realizar un control de las mismas mediante un adecuado plan de suplementación mineral acorde a las necesidades de los distintos establecimientos agropecuarios.