A t(7;12) balanced translocation with breakpoints overlapping those of the Williams-Beuren and 12q14 microdeletion syndromes.

The molecular characterization of balanced chromosomal rearrangements have always been of advantage in identifying disease-causing genes. Here, we describe the breakpoint mapping of a de novo balanced translocation t(7;12)(q11.22;q14.2) in a patient presenting with a failure to thrive associated with moderate mental retardation, facial anomalies, and chronic constipation. The localization of the breakpoints and the co-occurrence of Williams-Beuren syndrome and 12q14 microdeletion syndrome phenotypes suggested that the expression of some of the dosage-sensitive genes of these two segmental aneuploidies were modified in cells of the proposita. However, we were unable to identify chromosomes 7 and/or 12-mapping genes that showed disturbed expression in the lymphoblastoids of the proposita. This case showed that position-effect might operate in some tissues, but not in others. It also illustrates the overlap of phenotypes presented by patients with the recently described 12q14 structural rearrangements.

Finance and Balanced Growth

The Uzawa (1961) theorem applied to finance and growthsuggests that a long-run positive correlation between financial efficiency and depth is only present when variations in the extent of access to financial services are considered. Improvements in financial efficiency can lead to new capital augmenting technologies along the balanced path, but only improvements in financial efficiency directed towards labor can change the rate of growth in the long-run. These findings suggest ways to understand some of the more nuanced relationships between finance and growth observed in the data and point in a number of directions for future research.

Balanced Budget Government Spending in a Small Open Regional Economy

This paper investigates the impact of a balanced budget fiscal policy expansion in a regional context within a numerical dynamic general equilibrium model. We take Scotland as an example where, recently, there has been extensive debate on greater fiscal autonomy. In response to a balanced budget fiscal expansion the model suggests that: an increase in current government purchase in goods and services has negative multiplier effects only if the elasticity of substitution between private and public consumption is high enough to move downward the marginal utility of private consumers; public capital expenditure crowds in consumption and investment even with a high level of congestion; but crowding out effects might arise in the short-run if agents are myopic.

Navigator-gated free-breathing three-dimensional balanced fast field echo (TrueFISP) coronary magnetic resonance angiography.

RATIONALE AND OBJECTIVES: Recent developments of MR imaging equipment enabled high-quality steady state-free-precession (Balanced FFE, True-FISP) MR-imaging with a substantial 'T2 like' contrast, resulting in a high signal intensity of the blood-pool without the application of exogenous contrast agents. It is hypothesized that Balanced-FFE may be valuable for contrast enhancement in 3D free-breathing coronary MRA. MATERIALS AND METHODS: Navigator-gated free-breathing cardiac triggered coronary MRA was performed in 10 healthy adult subjects and three patients with radiograph defined coronary artery disease using a segmented k-space 3D Balanced FFE imaging sequence. RESULTS: High contrast-to-noise ratio between the blood-pool and the myocardium (29 +/- 8) and long segment visualization of both coronary arteries could be obtained in about 5 minutes during free breathing using the present navigator-gated Balanced-FFE coronary MRA approach. First patient results demonstrated successful display of coronary artery stenoses. CONCLUSION: Balanced FFE offers a potential alternative for endogenous contrast enhancement in navigator-gated free-breathing 3D coronary MRA. The obtained results together with the relatively short scanning time warrant further studies in larger patient collectives.

The balanced lethal system of crested newts: a ghost of sex chromosomes past?

Balanced lethal systems are more than biological curiosities: as theory predicts, they should quickly be eliminated through the joint forces of recombination and selection. That such systems might become fixed in natural populations poses a challenge to evolutionary theory. Here we address the case of a balanced lethal system fixed in crested newts and related species, which makes 50% of offspring die early in development. All adults are heteromorphic for chromosome pair 1. The two homologues (1A and 1B) have different recessive deleterious alleles fixed on a nonrecombining segment, so that heterozygotes are viable, while homozygotes are lethal. Given such a strong segregation load, how could autosomes stop recombining? We propose a role for a sex-chromosome turnover from pair 1 (putative ancestral sex chromosome) to pair 4 (currently active sex chromosome). Accordingly, 1A and 1B represent two variants (Y(A) and Y(B)) of the Y chromosome from an ancestral male-heterogametic system. We formalize a scenario in which turnovers are driven by sex ratio selection stemming from gene-environment interactions on sex determination. Individual-based simulations show that a balanced lethal system can be fixed with significant likelihood, provided the masculinizing allele on chromosome 4 appears after the elimination of the feminizing allele on chromosome 1. Our study illustrates how strikingly maladaptive traits might evolve through natural selection.

Suitability, success and sinks: how do predictions of nesting distributions relate to fitness parameters in high arctic waders?

AimAlthough habitat suitability maps derived from species distribution models (SDMs) are often assumed to highlight locations that can sustain healthy populations over time, the relationship between suitability scores and fitness parameters has rarely been tested thoroughly. LocationZackenberg Valley, north-east Greenland. MethodsUsing 14years of data (1997-2010) representing three wader species (dunlin Calidris alpina, sanderling Calidris alba and ruddy turnstone Arenaria interpres), we tested the relationships between modelled suitability and fitness parameters at nesting locations. ResultsAmong the three species examined, only the ruddy turnstone exhibited significant relationships between suitability and nest success, but over time rather than space. During years with extensive snow cover in the landscape, the nesting sites of ruddy turnstone occurred in different habitats than were typically used across years. Moreover, in years with extensive snow cover, the ruddy turnstone initiated nests later and suffered from higher egg predation rates. Main conclusionOur results suggest that SDMs derived from species occurrences that include years of low reproductive success may over-estimate the potential suitable habitat in the landscape. Whenever possible, variation in reproductive success should be considered when building models to inform species' response to environmental change. species' response to environmental change.

Nestling detectability affects parental feeding preferences in a cavity-nesting bird

In many avian species, nestlings have evolved striking plumage, behaviours and mouth colours to obtain a greater share of parental investment. Studies revealing parental feeding preferences for nestlings with red gapes have proposed that red mouth colour in songbirds can act as a signal of nestling need or condition. Alternative hypotheses suggest that bright nestling mouths in cavity-nesting birds evolved to increase nestling detectability by the parents. We tested whether nestling mouth colour affects parental feeding preferences in great tits, Pants major L. In broods of six young, we experimentally painted mouth gapes and flanges either red or yellow and tested the effect of mouth colour on nestlings' mass gain under two lighting conditions. In nests with high luminosity, there was no significant effect of mouth colour on mass gain. In nests with low luminosity, nestlings with red gapes and flanges gained less mass than nestlings with red gapes and yellow flanges or both yellow gapes and flanges. Our results suggest that, in nests with low luminosity, red mouths decreased nestling detectability to the feeding parents and support the hypothesis that poor luminosity in nesting cavities can select for pale mouths. Overall, our results do not support the hypothesis that red mouth colour signals nestling need or condition to parent great tits.

Impact of Balanced or Unbalanced Karyotype At Diagnosis On Prognosis of CML: Long-Term Observation From 1346 Patients of the Randomized CML Study IV

Introduction: Acquired genetic instability in chronic myeloid leukemia (CML) as a consequence of the translocation t(9;22)(q34;q11) and the resulting BCR-ABL fusion causes the continuous acquisition of additional chromosomal aberrations and mutations and thereby progression to accelerated phase (AP) and blast crisis (BC). At least 10% of patients in chronic phase (CP) CML show additional alterations at diagnosis. This proportion rises during the course of the disease up to 80% in BC. Acquisition of chromosomal changes during treatment is considered as a poor prognostic indicator, whereas the impact of chromosomal aberrations at diagnosis depends on their type. Patients with major route additional chromosomal alterations (major ACA: +8, i(17)(q10), +19, +der(22)t(9;22)(q34;q11) have a worse outcome whereas patients with minor route ACA show no difference in overall survival (OS) and progression-free survival (PFS) compared to patients with the standard translocation, a variant translocation or the loss of the Y chromosome (Fabarius et al., Blood 2011). However, the impact of balanced vs. unbalanced (gains or losses of chromosomes or chromosomal material) karyotypes at diagnosis on prognosis of CML is not clear yet. Patients and methods: Clinical and cytogenetic data of 1346 evaluable out of 1544 patients with Philadelphia and BCR-ABL positive CP CML randomized until December 2011 to the German CML-Study IV, a randomized 5-arm trial to optimize imatinib therapy by combination, or dose escalation and stem cell transplantation were investigated. There were 540 females (40%) and 806 males (60%). Median age was 53 years (range, 16-88). The impact of additional cytogenetic aberrations in combination with an unbalanced or balanced karyotype at diagnosis on time to complete cytogenetic and major molecular remission (CCR, MMR), PFS and OS was investigated. Results: At diagnosis 1174/1346 patients (87%) had the standard t(9;22)(q34;q11) only and 75 patients (6%) had a variant t(v;22). In 64 of 75 patients with t(v;22), only one further chromosome was involved in the translocation; In 8 patients two, in 2 patients three, and in one patient four further chromosomes were involved. Ninety seven patients (7%) had additional cytogenetic aberrations. Of these, 44 patients (3%) lacked the Y chromosome (-Y) and 53 patients (4%) had major or minor ACA. Thirty six of the 53 patients (2.7%) had an unbalanced karyotype (including all patients with major route ACA and patients with other unbalanced alterations like -X, del(1)(q21), del(5)(q11q14), +10, t(15;17)(p10;p10), -21), and 17 (1.3%) a balanced karyotype with reciprocal translocations [e.g. t(1;21); t(2;16); t(3;12); t(4;6); t(5;8); t(15;20)]. After a median observation time of 5.6 years for patients with t(9;22), t(v;22), -Y, balanced and unbalanced karyotype with ACA median times to CCR were 1.05, 1.05, 1.03, 2.58 and 1.51 years, to MMR 1.31, 1.51, 1.65, 2.97 and 2.07 years. Time to CCR and MMR was longer in patients with balanced karyotypes (data statistically not significant). 5-year PFS was 89%, 78%, 87%, 94% and 69% and 5-year OS 91%, 87%, 89%, 100% and 73%, respectively. In CML patients with unbalanced karyotype PFS (p<0.001) and OS (p<0.001) were shorter than in patients with standard translocation (or balanced karyotype; p<0.04 and p<0.07, respectively). Conclusion: We conclude that the prognostic impact of additional cytogenetic alterations at diagnosis of CML is heterogeneous and consideration of their types may be important. Not only patients with major route ACA at diagnosis of CML but also patients with unbalanced karyotypes identify a group of patients with shorter PFS and OS as compared to all other patients. Therefore, different therapeutic options such as intensive therapy with the most potent tyrosine kinase inhibitors or stem cell transplantation are required.

A record of communal nesting in the barn owl (Tyto alba)

We report a unique case of two female Barn Owls laying eggs and incubating together in a single nest cup in a communal nest. A trio of two females and one male bred in an abandoned water tower in 2013 in Israel. Both females incubated/brooded together in the communal nest, and all three individuals brought food to the communal family. The two females laid 20 eggs, of which 19 hatched and 16 fledged.

Use of green fluorescent protein-based reporters to monitor balanced production of antifungal compounds in the biocontrol agent Pseudomonas fluorescens CHA0.

AIMS: To develop reporter constructs based on stable and unstable variants of the green fluorescent protein (GFP) for monitoring balanced production of antifungal compounds that are crucial for the capacity of the root-colonizing Pseudomonas fluorescens strain CHA0 to control plant diseases caused by soil-borne pathogenic fungi. METHODS AND RESULTS: Pseudomonas fluorescens CHA0 produces the three antifungal metabolites 2,4-diacetylphloroglucinol (DAPG), pyoluteorin (PLT) and pyrrolnitrin (PRN). The gfp[mut3] and gfp[AAV] reporter genes were fused to the promoter regions of the DAPG, PLT and PRN biosynthetic genes. The reporter fusions were then used to follow the kinetics of expression of the three antifungal metabolites in a microplate assay. DAPG and PLT were found to display an inverse relationship in which each metabolite activates its own biosynthesis while repressing the synthesis of the other metabolite. PRN appears not to be involved in this balance. However, the microbial and plant phenolic metabolite salicylate was found to interfere with the expression of both DAPG and PLT. CONCLUSIONS: The results obtained provide evidence that P. fluorescens CHA0 may keep the antifungal compounds DAPG and PLT at a fine-tuned balance that can be affected by certain microbial and plant phenolics. SIGNIFICANCE AND IMPACT OF THE STUDY: To our knowledge, the present study is the first to use stable and unstable GFP variants to study antibiotic gene expression in a biocontrol pseudomonad. The developed reporter fusions will be a highly valuable tool to study in situ expression of this bacterial biocontrol trait on plant roots, i.e. at the site of pathogen suppression.

Terceiro sector, governabilidade e balanced scorecard

A presente dissertação descreve abordagens de governo de organizações do terceiro sector e apresenta um estudo de caso de aplicação do balanced scorecard como instrumento de gestão estratégica numa destas organizações em Cabo Verde. As fronteiras entre os sectores público, sector privado e o Terceiro Sector tendem a ficar fluidas tendo cada um assimilado as características dos outros, procurando respostas para as necessidades sociais. Assim, organizações do terceiro sector procuram por exemplo enfoque no cliente e na gestão financeira tal como as empresas, e estas procuram dar destaque na responsabilidade social tal como organizações sem fins lucrativos. As organizações do terceiro sector necessitam cada vez mais de métodos administrativos e profissionais para os desafios da economia global, nomeadamente na competição por recursos e simultâneamente no fortalecimento dos laços com as comunidades no cumprimento da sua missão. O governo de uma organização pressupõe um sistema de indicadores do desempenho para dar satisfação a diferentes stakeholders ou constituintes com interesses contraditórios. A dissertação responde a questões de adaptação dos conceitos e métodos de avaliação do desempenho empresarial em diferentes ópticas para organizações do terceiro sector com um estudo de caso de aplicação do Balanced Scorecard. Este instrumento de gestão conceptualizado e testado desde 1992 para empresas de negócios, equilibra as perspectivas financeira, clientes, de processos, e de apendizagem organizacional, permitindo de forma extracontabilistica equilibrar todas as vertentes de uma organização para além dos recursos financeiros, para economia da satisfação e das pessoas.

O balanced scorecard como instrumento de alinhamento estratégico nas organizações - Caso: Bento, S.A.

Diante da crescente competitividade, característica do mercado global, e da necessidade de melhorar a eficiência e a produtividade nas organizações, torne-se imperativo o aperfeiçoamento, incessante, na forma de actuação dos gestores. Consciente que, até então, as empresas suportam, essencialmente, no sistema contabilístico, este que, muitas vezes, fornece informações insuficientes e restringidos à tomada de decisões de curto prazo, mostra-se necessário investir em sistemas de medição, ligado à estratégia organizacional, que permitam melhor planeamento e controlo e, ainda, gerar e medir indicadores de longo prazo. No intuito de contribuir para a melhoria do paradigma da gestão, mais concretamente da gestão das empresas Cabo-Verdianas, e, em particular a da empresa em estudo, propomos, como objectivo desta dissertação, o estudo da utilização das ferramentas de gestão tradicional, face às novas ferramentas emergentes. Nisto, apresentamos, como estudo de caso, a avaliação do sistema de controlo de gestão da Empresa Bento - Comércio, Construtores, Imobiliária e Investimentos, Sociedade Anónima, (Bento S.A.), analisando, à luz da literatura consultada, o sistema de gestão estratégica, seguido pela empresa de modo a poder propor eventuais melhorias. Durante a revisão bibliográfica, foram estudadas várias ferramentas da gestão estratégica, das quais escolhemos o Balanced Scorecard (BSC) como um instrumento capaz de responder às lacunas detectadas na estratégia de gestão da Empresa, em que após uma breve descrição dos aspectos teóricos do conceito, suportado nos estudos empíricos publicados, apresentámos uma proposta para sua adopção, concepção e implementação. É de realçar que, durante o estudo constatou-se, por parte da administração da empresa, uma maior consciência da importância da comunicação e divulgação da sua estratégia entre os diferentes níveis hierárquicos, o que evidencia que ela está, mesmo, disposta a apostar na sua inovação estratégica. With the raising competitiveness, characteristic of the global market, and of the need of improving the efficiency and productivity in organizations, the constant improvement in the way of acting of managers it becomes peremptory. Aware that, so far, enterprises support, essentially, on the accounting system, which, many times, gives restrict and insufficient information for the taking of decisions in a short term, it is shown to be necessary to invest in measuring systems, connected to the organizational strategy, which contains signs that allow a better planning and control and, furthermore, give birth to and measure signs on a long term. With the aim of contributing for the improvement of the managing pattern, specifically, the management of Cape Verdean enterprises, and, in particular, the one of the enterprise in study, we propose, as an aim of this dissertation, the study of the use of the traditional managing tools, in view of the emerging new tools. Thus, we present, as study case, the evaluation of the system of management control of the Enterprise Bento - Comércio, Construtores, Imobiliária e Investimentos, Sociedade Anónima, (Bento, S.A.), analyzing the system of strategic management, used by the enterprise to be able to propose eventual improvements. During the bibliographic revision, we studied many strategic management tools, among which we chose the Balanced Scorecard (BSC) as an instrument capable to respond to the gaps detected in the management strategy of the enterprise, in which, after a brief description of the theoretical aspects of the concept, supported on the empiric studies published, we present a proposal for its adoption, conception and implementation. We would like to accentuate that, during the study we noticed that there exists, on the behalf of the management of the enterprise, a major awareness of the importance of communication and diffusion of its strategy among the different hierarchical levels, what makes clear that the enterprise is really open to bet on its strategic innovation.

Avaliação da performance organizacional Uma análise da utilização do tableau de bord e do balanced scorecard em empresas portuguesas

Esta dissertação investiga a temática da avaliação da performance e dos seus sistemas, concentrando-se no tableau de bord (TB) e no balanced scorecard (BSC). O objectivo é analisar os aspectos que caracterizam e distinguem estes dois instrumentos e verificar de que forma são utilizados em algumas empresas portuguesas. Neste contexto, apresentamos uma breve descrição dos aspectos teóricos destes dois conceitos, fazemos uma sintética incursão nos seus estudos empíricos publicados e analisamos o seu processo de adopção, concepção, implementação e os seus impactos na gestão num conjunto de empresas portuguesas de diferentes sectores. Partindo de uma abordagem qualitativa, fundamentada na metodologia do estudo de caso e baseada em entrevistas, análise documental e observação, verificámos que, em todos os casos estudados e numa ou mais fases da implementação do BSC e do TB, foi possível verificar a “customização” desses sistemas, tendo em conta as características e necessidades individuais das empresas adoptantes. Este facto deu origem a sistemas relativamente híbridos, que apresentam características diferentes (e, nalguns casos, divergentes) daquelas apresentadas na literatura, com destaque para o (des)equilíbrio na quantidade, natureza e análise dos indicadores de performance. Confirmou-se a importância da participação da gestão de topo e intermédia, do processo de comunicação (estratégico, táctico e operacional) entre os diferentes níveis hierárquicos e de elementos internos como a natureza das actividades e a estrutura e a cultura organizacionais na definição das características dos sistemas estudados. Foi possível aferir, também, acerca da relevância que os processos complementares de controlo continuam a exercer, sendo de destacar o papel do orçamento, enquanto fundamento para o planeamento de curto e médio prazos das empresas e como elemento de base para as comparações com os resultados obtidos no âmbito do BSC e do TB. Constatou-se, ainda, a importância da consistência na utilização dos sistemas de avaliação da performance na sua legitimação e na sua aceitação por parte dos utilizadores.