Frequência da neoplasia endócrina múltipla tipo 1 em grupos de pacientes com adenoma hipofisário: aspectos clínicos e estudo genético familiar

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Effects of β-glucan polysaccharide revealed by the dominant lethal assay and micronucleus assays, and reproductive performance of male mice exposed to cyclophosphamide

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

EGHEP-ISFG collaborative exercise on mixture profiles of autosomal STRs (GHEP-MIX01, GHEP-MIX02 and GHEP-MIX03): Results and evaluation

One of the main objectives of the Spanish and Portuguese-Speaking Group of the International Society for Forensic Genetics (GHEP-ISFG) is to promote and contribute to the development and dissemination of scientific knowledge in the area of forensic genetics. Due to this fact, GHEP-ISFG holds different working commissions that are set up to develop activities in scientific aspects of general interest. One of them, the Mixture Commission of GHEP-ISFG, has organized annually, since 2009, a collaborative exercise on analysis and interpretation of autosomal short tandem repeat (STR) mixture profiles. Until now, three exercises have been organized (GHEP-MIX01, GHEP-MIX02 and GHEP-MIX03), with 32, 24 and 17 participant laboratories respectively. The exercise aims to give a general vision by addressing, through the proposal of mock cases, aspects related to the edition of mixture profiles and the statistical treatment. The main conclusions obtained from these exercises may be summarized as follows. Firstly, the data show an increased tendency of the laboratories toward validation of DNA mixture profiles analysis following international recommendations (ISO/IEC 17025: 2005). Secondly, the majority of discrepancies are mainly encountered in stutters positions (53.4%, 96.0% and 74.9%, respectively for the three editions). On the other hand, the results submitted reveal the importance of performing duplicate analysis by using different kits in order to reduce errors as much as possible. Regarding the statistical aspect (GHEP-MIX02 and 03), all participants employed the likelihood ratio (LR) parameter to evaluate the statistical compatibility and the formulas employed were quite similar. When the hypotheses to evaluate the LR value were locked by the coordinators (GHEP-MIX02) the results revealed a minor number of discrepancies that were mainly due to clerical reasons. However, the GHEP-MIX03 exercise allowed the participants to freely come up with their own hypotheses to calculate the LR value. In this situation the laboratories reported several options to explain the mock cases proposed and therefore significant differences between the final LR values were obtained. Complete information concerning the background of the criminal case is a critical aspect in order to select the adequate hypotheses to calculate the LR value. Although this should be a task for the judicial court to decide, it is important for the expert to account for the different possibilities and scenarios, and also offer this expertise to the judge. In addition, continuing education in the analysis and interpretation of mixture DNA profiles may also be a priority for the vast majority of forensic laboratories. (C) 2014 Elsevier Ireland Ltd. All rights reserved.

Expression of receptors for BMP15 is differentially regulated in dominant and subordinate follicles during follicle deviation in cattle

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Dominant predators mediate the impact of habitat size on trophic structure in bromeliad invertebrate communities

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Congruent spatial and temporal foraging by a dominant ant (Hym., Formicidae) and its replacement in an assemblage in a large urban structure in southeastern Brazil

At fixed bail stations in a large institutional setting in Brazil, the temporal and spatial pattern of usage of the dominant species of ant was studied. The ant Crematogaster cf. magnifica, was found in 91% of sampling points. These studies were conducted using the same points as a previous study of tile then dominant ant. Monomorium pharaonis, which was found to have declined from 93% to 3% spatial point occupation. The frequency of point usage during this study was significantly different from the Poisson distribution for both species, indicating non-random use of space. Crematogaster cf. magnifica was significantly more spatially exclusive than had been documented for M. pharaonis, and the probability of points originally occupied by M. pharaonis later becoming occupied by C. cf. magnifica was in excess of 90%. Temporal bait exploitation patterns of the two species did not differ. These data demonstrate that structural ant communities can change over time without human intervention, although short- term stability is characteristic of the urban dominant ants in subtropical Brazil.

Dominant-non-dominant asymmetry of kicking a stationary and rolling ball in a futsal context

The aim of this study was to analyse the characteristics of the asymmetries in the dominant and non-dominant limbs when kicking stationary and rolling balls. Ten experienced Brazilian amateur futsal players participated in this study. Each participant performed kicks under two conditions (stationary ball vs. rolling ball) with the dominant and non-dominant limbs (five kicks per condition per limb). We analysed the kicking accuracy, ball and foot velocities, angular joint displacement and velocity. The asymmetry between the dominant and non-dominant limbs was analysed by symmetry index and two-way repeated measures ANOVA. The results did not reveal any interaction between the condition and limb for ball velocity, foot velocity and accuracy. However, kicking with the dominant limb in both kicks showed higher ball velocity (stationary ball: dominant - 24.27 ± 2.21 m · s(-1) and non-dominant - 21.62 ± 2.26 m · s(-1); rolling ball: dominant - 23.88 ± 2.71 m · s(-1) and non-dominant - 21.42 ± 2.25 m · s(-1)), foot velocity (stationary ball: dominant - 17.61 ± 1.87 m · s(-1) and non-dominant - 15.58 ± 2.69 m · s(-1); rolling ball: dominant - 17.25 ± 2.26 m · s(-1) and non-dominant - 14.77 ± 2.35 m · s(-1)) and accuracy (stationary ball: dominant - 1.17 ± 0.84 m and non-dominant - 1.56 ± 1.30 m; rolling ball: dominant - 1.31 ± 0.91 m and non-dominant - 1.97 ± 1.44 m). In addition, the angular joint adjustments were dependent on the limb in both kicks (the kicks with non-dominant limb showed lower hip external rotation than the kicks with the dominant limb), indicating that the hip joint is important in kick performance. In conclusion, the kicks with the non-dominant limb showed different angular adjustments in comparison to kicks with the dominant limb. In addition, kicking a rolling ball with the non-dominant limb showed higher asymmetry for accuracy, indicating that complex kicks are more asymmetric.

Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype

We describe a large Brazilian consanguineous kindred with 3 clinically affected patients with a Thomsen myotonia phenotype. They carry a novel homozygous nonsense mutation in the CLCN1 gene (K248X). None of the 6 heterozygote carriers show any sign of myotonia on clinical evaluation or electromyography. These findings confirm the autosomal recessive inheritance of the novel mutation in this family, as well as the occurrence of phenotypic variability in the autosomal recessive forms of myotonia. Muscle Nerve, 2012

Lipopolysaccharide administration in the dominant mouse destabilizes social hierarchy

Sickness behavior is a set of behavioral changes that are part of an adaptive strategy to overcome infection. Mice that interact with conspecifics displaying sickness behavior also show relevant behavioral changes. In this work we sought to determine the role of sickness behavior display by a dominant mouse as a promoter of hierarchy instability. We treated the dominant mouse within a dyad with lipopolysaccharide (LPS) (400 mu g/kg, i.p.) for three consecutive days and assessed social dominance behavior. Since elder animals display increased inflammatory responses and the behaviors toward conspecifics are influenced by kinship we also assessed whether kinship and age, might influence sickness related hierarchy instability. Our results show that administration of LPS in the dominant mouse promotes social instability within a dyad, and indicates that this instability could be influenced by kinship and age. (C) 2012 Elsevier B.V. All rights reserved.

GATA3 and a dominant regulatory gene expression profile discriminate operational tolerance in human transplantation

Some organ-transplanted patients achieve a state of "operational tolerance" (01) in which graft function is maintained after the complete withdrawal of immunosuppressive drugs. We used a gene panel of regulatory/inflammatory molecules (FOXP3, GATA3, 100, TGFB1, TGFBR1/TBX21, TNF and IFNG) to investigate the gene expression profile in peripheral blood mononuclear cells of renal-transplanted individuals experiencing OT compared to transplanted individuals not displaying OT and healthy individuals (HI). OT subjects showed a predominant regulatory (REG) profile with higher gene expression of GATA3, FOXP3, TGFB1 and TGFB receptor 1 compared to the other groups. This predominant REG gene expression profile displayed stability over time. The significant GATA3 gene and protein expressions in OT individuals suggest that a Th2 deviation may be a relevant pathway to OT. Moreover, the capacity of the REG/INFLAMMA gene panel to discriminate OT by peripheral blood analysis indicates that this state has systemic repercussions. (C) 2011 Elsevier Inc. All rights reserved.

Early diagnosis of Gorlin-Goltz syndrome: case report

The Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome (NBCCS), is an infrequent multisystemic disease inherited in a dominant autosomal way, which shows a high level of penetrance and variable expressiveness. It is characterized by keratocystic odontogenic tumors (KCOT) in the jaw, multiple basal cell nevi carcinomas and skeletal abnormities. This syndrome may be diagnosed early by a dentist by routine radiographic exams in the first decade of life, since the KCOTs are usually one of the first manifestations of the syndrome. This article paper reports the case of a patient, a 10-year-old boy with NBCCS, emphasizing its clinical and radiographic manifestations. This study highlights the importance of health professionals in the early diagnosis of NBCCS and in a preventive multidisciplinary approach to provide a better prognosis for the patient.

Degree of multicollinearity and variables involved in linear dependence in additive-dominant models

The objective of this work was to assess the degree of multicollinearity and to identify the variables involved in linear dependence relations in additive-dominant models. Data of birth weight (n=141,567), yearling weight (n=58,124), and scrotal circumference (n=20,371) of Montana Tropical composite cattle were used. Diagnosis of multicollinearity was based on the variance inflation factor (VIF) and on the evaluation of the condition indexes and eigenvalues from the correlation matrix among explanatory variables. The first model studied (RM) included the fixed effect of dam age class at calving and the covariates associated to the direct and maternal additive and non-additive effects. The second model (R) included all the effects of the RM model except the maternal additive effects. Multicollinearity was detected in both models for all traits considered, with VIF values of 1.03 - 70.20 for RM and 1.03 - 60.70 for R. Collinearity increased with the increase of variables in the model and the decrease in the number of observations, and it was classified as weak, with condition index values between 10.00 and 26.77. In general, the variables associated with additive and non-additive effects were involved in multicollinearity, partially due to the natural connection between these covariables as fractions of the biological types in breed composition.

Daily ration and feeding chronology of dominant diel vertical migrant fishes in the Subtropical Eastern North Atlantic Ocean

[EN] Diel Vertical Migrants (DVMs) are mainly zooplankton and micronekton which migrate upward from 400-500 m depth every night to feed on the productive epipelagic zone, coming back at dawn to the mesopelagic zone, where they defecate, excrete, and respire the ingested carbon. DVMs should contribute to the biological pump in the ocean and, accordingly, to the global CO2 balance. Although those migrants are mainly small fishes, cephalopods and crustaceans, the lanternfishes (myctophidae) usually contribute up to 80% of total DVMs biomass. Thus, myctophids may represent a pathway accounting for a substantial export of organic carbon to the deep ocean. However, the magnitude of this transport is still poorly known. In order to assess this active flux of carbon, we performed a preliminary study of mesopelagic organisms around the Canary Islands. Here we present the results of diet, daily rations and feeding chronology of Lobianchia dofleini, Hygophum hygomii and Ceratoscopelus maderensis, 3 dominant species of myctophids performing diel vertical migrations in the Subtropical Eastern North Atlantic Ocean. Samples were obtained on board the RV La Bocaina during June 2009. Myctophids were sorted and fixed in 4% buffered formalin and the stomach contents of target species were examined and weighted. Feeding chronology was approached by studying stomach fullness and state of digestion of prey items in individuals from hauls performed at different times and depths. Our results provide further information about lanternfishes feeding ecology in relation to their vertical migration patterns as well as their contribution to the biological carbon pump.

Welfare provision in Sweden and the dominant position of the Sap

There have been almost fifty years since Harry Eckstein' s classic monograph, A Theory of Stable Democracy (Princeton, 1961), where he sketched out the basic tenets of the “congruence theory”, which was to become one of the most important and innovative contributions to understanding democratic rule. His next work, Division and Cohesion in Democracy, (Princeton University Press: 1966) is designed to serve as a plausibility probe for this 'theory' (ftn.) and is a case study of a Northern democratic system, Norway. What is more, this line of his work best exemplifies the contribution Eckstein brought to the methodology of comparative politics through his seminal article, “ “Case Study and Theory in Political Science” ” (in Greenstein and Polsby, eds., Handbook of Political Science, 1975), on the importance of the case study as an approach to empirical theory. This article demonstrates the special utility of “crucial case studies” in testing theory, thereby undermining the accepted wisdom in comparative research that the larger the number of cases the better. Although not along the same lines, but shifting the case study unit of research, I intend to take up here the challenge and build upon an equally unique political system, the Swedish one. Bearing in mind the peculiarities of the Swedish political system, my unit of analysis is going to be further restricted to the Swedish Social Democratic Party, the Svenska Arbetare Partiet. However, my research stays within the methodological framework of the case study theory inasmuch as it focuses on a single political system and party. The Swedish SAP endurance in government office and its electoral success throughout half a century (ftn. As of the 1991 election, there were about 56 years - more than half century - of interrupted social democratic "reign" in Sweden.) are undeniably a performance no other Social Democrat party has yet achieved in democratic conditions. Therefore, it is legitimate to inquire about the exceptionality of this unique political power combination. Which were the different components of this dominance power position, which made possible for SAP's governmental office stamina? I will argue here that it was the end-product of a combination of multifarious factors such as a key position in the party system, strong party leadership and organization, a carefully designed strategy regarding class politics and welfare policy. My research is divided into three main parts, the historical incursion, the 'welfare' part and the 'environment' part. The first part is a historical account of the main political events and issues, which are relevant for my case study. Chapter 2 is devoted to the historical events unfolding in the 1920-1960 period: the Saltsjoebaden Agreement, the series of workers' strikes in the 1920s and SAP's inception. It exposes SAP's ascent to power in the mid 1930s and the party's ensuing strategies for winning and keeping political office, that is its economic program and key economic goals. The following chapter - chapter 3 - explores the next period, i.e. the period from 1960s to 1990s and covers the party's troubled political times, its peak and the beginnings of the decline. The 1960s are relevant for SAP's planning of a long term economic strategy - the Rehn Meidner model, a new way of macroeconomic steering, based on the Keynesian model, but adapted to the new economic realities of welfare capitalist societies. The second and third parts of this study develop several hypotheses related to SAP's 'dominant position' (endurance in politics and in office) and test them afterwards. Mainly, the twin issues of economics and environment are raised and their political relevance for the party analyzed. On one hand, globalization and its spillover effects over the Swedish welfare system are important causal factors in explaining the transformative social-economic challenges the party had to put up with. On the other hand, Europeanization and environmental change influenced to a great deal SAP's foreign policy choices and its domestic electoral strategies. The implications of globalization on the Swedish welfare system will make the subject of two chapters - chapters four and five, respectively, whereupon the Europeanization consequences will be treated at length in the third part of this work - chapters six and seven, respectively. Apparently, at first sight, the link between foreign policy and electoral strategy is difficult to prove and uncanny, in the least. However, in the SAP's case there is a bulk of literature and public opinion statistical data able to show that governmental domestic policy and party politics are in a tight dependence to foreign policy decisions and sovereignty issues. Again, these country characteristics and peculiar causal relationships are outlined in the first chapters and explained in the second and third parts. The sixth chapter explores the presupposed relationship between Europeanization and environmental policy, on one hand, and SAP's environmental policy formulation and simultaneous agenda-setting at the international level, on the other hand. This chapter describes Swedish leadership in environmental policy formulation on two simultaneous fronts and across two different time spans. The last chapter, chapter eight - while trying to develop a conclusion, explores the alternative theories plausible in explaining the outlined hypotheses and points out the reasons why these theories do not fit as valid alternative explanation to my systemic corporatism thesis as the main causal factor determining SAP's 'dominant position'. Among the alternative theories, I would consider Traedgaardh L. and Bo Rothstein's historical exceptionalism thesis and the public opinion thesis, which alone are not able to explain the half century social democratic endurance in government in the Swedish case.

On the inheritance and mechanism of baculovirus resistance of the codling moth, Cydia pomonella (L.)

Das Cydia pomonella Granulovirus (CpGV, Baculoviridae) wird seit Ende der 1980er Jahre als hoch-selektives und effizientes biologisches Bekämpfungsmittel zur Kontrolle des Apfelwicklers im Obstanbau eingesetzt. Seit 2004 wurden in Europa verschiedene Apfelwicklerpopulationen beobachtet die resistent gegenüber dem hauptsächlich angewendeten Isolat CpGV-M aufweisen. Die vorliegende Arbeit befasst sich mit der Untersuchung der Vererbung und des Mechanismus der CpGV Resistenz. Einzelpaarkreuzungen zwischen einem empfindlichen Laborstamm (CpS) und einem homogen resistenten Stamm (CpRR1) zeigten, dass die Resistenz durch ein einziges dominantes Gen, das auf dem Z-Chromosom lokalisiert ist, vererbt wird. Massernkreuzungen zwischen CpS und einer heterogen resistenten Feldpopulation (CpR) deuteten zunächst auf einen unvollständig dominanten autosomalen Erbgang hin. Einzelpaarkreuzungen zwischen CpS und CpR bewiesen jedoch, dass die Resistenz in CpR ebenfalls monogen dominant und geschlechtsgebunden auf dem Z-Chromosom vererbt wird. Diese Arbeit diskutiert zudem die Vor- und Nachteile von Einzelpaarkreuzungen gegenüber Massernkreuzungen bei der Untersuchung von Vererbungsmechanismen. Die Wirksamkeit eines neuen CpGV Isolates aus dem Iran (CpGV-I12) gegenüber CpRR1 Larven, wurde in Bioassays getestet. Die Ergebnisse zeigen, dass CpGV-I12 die Resistenz in allen Larvenstadien von CpRR1 brechen kann und fast so gut wirkt wie CpGV-M gegenüber CpS Larven. Daher ist CpGV-I12 für die Kontrolle des Apfelwicklers in Anlagen wo die Resistenz aufgetreten ist geeignet. Um den der CpGV Resistenz zugrunde liegenden Mechanismus zu untersuchen, wurden vier verschiedene Experimente durchgeführt: 1) die peritrophische Membran degradiert indem ein optischer Aufheller dem virus-enthaltenden Futtermedium beigefügt wurde. Das Entfernen dieser mechanischen Schutzbarriere, die den Mitteldarm auskleidet, führte allerdings nicht zu einer Reduzierung der Resistenz in CpR Larven. Demnach ist die peritrophische Membran nicht am Resistenzmechanismus beteiligt. 2) Die Injektion von Budded Virus in das Hämocoel führte nicht zur Brechung der Resistenz. Folglich die die Resistenz nicht auf den Mitteldarm beschränkt, sondern auch in der Sekundärinfektion wirksam. 3) Die Replikation von CpGV in verschiedenen Geweben (Mitteldarm, Hämolymphe und Fettkörper) von CpS und CpRR1 wurde mittels quantitativer PCR verfolgt. In CpS Larven konnte in allen drei Gewebetypen sowohl nach oraler als auch nach intra-hämocoelarer Infektion eine Zunahme der CpGV Genome in Abhängigkeit der Zeit festgestellt werden. Dagegen konnte in den Geweben aus CpRR1 nach oraler sowie intra-hämocoelarer Infektion keine Virusreplikation detektiert werden. Dies deutet darauf hin, dass die CpGV Resistenz in allen Zelltypen präsent ist. 4) Um zu untersuchen ob ein humoraler Faktor in der Hämolymphe ursächlich an der Resistenz beteiligt ist, wurde Hämolymphe aus CpRR1 Larven in CpS Larven injiziert und diese anschließend oral mit CpGV infiziert. Es konnte jedoch keine Immunreaktion beobachtet und kein Faktor in der Hämolymphe identifiziert werden, der Resistenz induzieren könnte. Auf Grundlage dieser Ergebnisse kann festgestellt werden, dass in resistenten Apfelwicklerlarven die virale Replikation in allen Zelltypen verhindert wird, was auf eine Virus-Zell Inkompatibilität hinweist. Da in CpRR1 keine DNA Replikation beobachtet wurde, wird die CpGV Resistenz wahrscheinlich durch eine frühe Unterbindung der Virusreplikation verursacht.Das früh exprimierte Gen pe38 codiert für ein Protein, das wahrscheinlich für die Resistenzbrechung durch CpGV-I12 verantwortlich ist. Interaktionen zwischen dem Protein PE38 und Proteinen in CpRR1 wurden mit Hilfe des Yeast Two-Hybrid (Y2H) Systems untersucht. Die detektierten Interaktionen sind noch nicht durch andere Methoden bestätigt, jedoch wurden zwei mögliche Gene auf dem Z-Chromosom und eines auf Chromosom 15 gefunden, wie möglicherweise an der CpGV Resistenz beteiligt sind.