Study of using marker assisted selection on a beef cattle breeding program by model comparison

A data set of a commercial Nellore beef cattle selection program was used to compare breeding models that assumed or not markers effects to estimate the breeding values, when a reduced number of animals have phenotypic, genotypic and pedigree information available. This herd complete data set was composed of 83,404 animals measured for weaning weight (WW), post-weaning gain (PWG), scrotal circumference (SC) and muscle score (MS), corresponding to 116,652 animals in the relationship matrix. Single trait analyses were performed by MTDFREML software to estimate fixed and random effects solutions using this complete data. The additive effects estimated were assumed as the reference breeding values for those animals. The individual observed phenotype of each trait was adjusted for fixed and random effects solutions, except for direct additive effects. The adjusted phenotype composed of the additive and residual parts of observed phenotype was used as dependent variable for models' comparison. Among all measured animals of this herd, only 3160 animals were genotyped for 106 SNP markers. Three models were compared in terms of changes on animals' rank, global fit and predictive ability. Model 1 included only polygenic effects, model 2 included only markers effects and model 3 included both polygenic and markers effects. Bayesian inference via Markov chain Monte Carlo methods performed by TM software was used to analyze the data for model comparison. Two different priors were adopted for markers effects in models 2 and 3, the first prior assumed was a uniform distribution (U) and, as a second prior, was assumed that markers effects were distributed as normal (N). Higher rank correlation coefficients were observed for models 3_U and 3_N, indicating a greater similarity of these models animals' rank and the rank based on the reference breeding values. Model 3_N presented a better global fit, as demonstrated by its low DIC. The best models in terms of predictive ability were models 1 and 3_N. Differences due prior assumed to markers effects in models 2 and 3 could be attributed to the better ability of normal prior in handle with collinear effects. The models 2_U and 2_N presented the worst performance, indicating that this small set of markers should not be used to genetically evaluate animals with no data, since its predictive ability is restricted. In conclusion, model 3_N presented a slight superiority when a reduce number of animals have phenotypic, genotypic and pedigree information. It could be attributed to the variation retained by markers and polygenic effects assumed together and the normal prior assumed to markers effects, that deals better with the collinearity between markers. (C) 2012 Elsevier B.V. All rights reserved.

Rotating black holes in a Randall-Sundrum brane with a cosmological constant

In this work we have constructed axially symmetric vacuum solutions of the gravitational field equations in a Randall-Sundrum brane. A non-null effective cosmological constant is considered, and asymptotically de Sitter and anti-de Sitter spacetimes are obtained. The solutions describe rotating black holes in a four-dimensional brane. Optical features of the solutions are treated, emphasizing the rotation of the polarization vector along null congruences. DOI: 10.1103/PhysRevD.86.124047

Consensus hologram QSAR modeling for the prediction of human intestinal absorption

Consistent in silico models for ADME properties are useful tools in early drug discovery. Here, we report the hologram QSAR modeling of human intestinal absorption using a dataset of 638 compounds with experimental data associated. The final validated models are consistent and robust for the consensus prediction of this important pharmacokinetic property and are suitable for virtual screening applications. (C) 2012 Elsevier Ltd. All rights reserved.

Congenital Adrenal Hyperplasia Due to 21 Hydroxylase Deficiency: From Birth to Adulthood

The most frequent form of congenital adrenal hyperplasia (CAH) is steroid 21-hydroxylase deficiency, accounting for more than 90% of cases. Affected patients cannot synthesize cortisol efficiently. Thus the adrenal cortex is stimulated by corticotropin (ACTH) and overproduces cortisol precursors. Some precursors are diverted to sex hormone biosynthesis, causing signs of androgen excess including ambiguous genitalia in newborn females and rapid postnatal growth in both sexes. In the most severe "salt wasting" form of CAH (similar to 75% of severe or "classic" cases), concomitant aldosterone deficiency may lead to salt wasting with consequent failure to thrive, hypovolemia, and shock. Newborn screening minimizes delays in diagnosis, especially in males, and reduces morbidity and mortality from adrenal crises. CAH is a recessive disorder caused by mutations in the CYP21 (CYP21A2) gene, most of which arise from recombination between CYP21 and a nearby pseudogene, CYP21P (CYP21A1P). Phenotype is generally correlated with genotype. Classic CAH patients require chronic glucocorticoid treatment at the lowest dose that adequately suppresses adrenal androgens and maintains normal growth and weight gain, and most require mineralocorticoid (fludrocortisone). Transition of care of older patients to adult physicians should be planned in advance as a structured, ongoing process.

Análise dos resultados maternos e fetais dos procedimentos invasivos genéticos fetais: um estudo exploratório em Hospital Universitário

OBJETIVO: Caracterizar as indicações das gestantes que procuraram o serviço de Medicina Fetal do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo para realização de procedimentos invasivos diagnósticos e avaliar os resultados dos cariótipos fetais e de suas gestações. MÉTODOS: Estudo observacional retrospectivo das gestantes que realizaram biópsia de vilo corial (BVC), amniocentese e cordocentese no período de fevereiro de 2005 a dezembro de 2009. Não foram incluídos outros procedimentos diagnósticos ou procedimentos terapêuticos. O resultado da gestação foi obtido através de consulta de prontuário eletrônico e/ou físico e/ou contato telefônico. RESULTADOS: Foram realizados 713 procedimentos (113 BVC, 340 amniocenteses e 260 cordocenteses). A principal indicação para a realização dos procedimentos invasivos foi a presença de alterações estruturais nos fetos, seguido por valores aumentados da translucência nucal e pela idade materna avançada. O cariótipo fetal esteve alterado em 186 casos (26,1%). A trissomia do cromossomo 18 foi a aneuploidia mais comum, seguida pela trissomia do 21, a monossomia do X e a trissomia do cromossomo 13. Ocorreram 4,9% de abortamento, 25,7% de natimortos e 13% de neomortos. Oito gestantes optaram pela interrupção judicial, e 99% das gestantes cujos fetos não apresentavam malformação e que apresentavam cariótipo fetal normal tiveram nativivos.

Oestrogen receptor beta in adenoid cystic carcinoma of salivary glands

Aims: This study aimed to describe the expression of oestrogen receptor (ER)alpha, ER beta and aromatase in salivary gland adenoid cystic carcinoma (ACC). Methods and results: ER alpha, ER beta and aromatase expression was analysed by immunohistochemistry in tissue microarray blocks from 38 cases of ACC and seven normal salivary glands. The intracellular localization and amount of total protein expression were investigated by immunofluorescence and western blotting in an ACC cell line. Western blotting analysis showed overexpression of ER alpha, ER beta and aromatase in the ACC cell line; however, with immunofluorescence, only ER beta was shown to be expressed in the nucleus. Immunohistochemistry revealed positive nuclear expression of ER beta, positive cytoplasmic expression of aromatase and a lack of ER alpha expression as compared with normal salivary glands. Conclusions: The nuclear expression of ER beta indicates that oestrogen may be active in ACC and possibly able to mediate E2-targeted gene transcription. This study strongly suggests that ER beta may be involved in tumour progression, playing a role in tumour development, and thus corroborating the indication for ER antagonists in the clinical control of ACC. This study opens a new perspective on the potential use of anti-oestrogens and aromatase inhibitors as therapeutic agents against ACC.

Robust statistical modeling using the Birnbaum-Saunders-t distribution applied to insurance

In this paper, we carry out robust modeling and influence diagnostics in Birnbaum-Saunders (BS) regression models. Specifically, we present some aspects related to BS and log-BS distributions and their generalizations from the Student-t distribution, and develop BS-t regression models, including maximum likelihood estimation based on the EM algorithm and diagnostic tools. In addition, we apply the obtained results to real data from insurance, which shows the uses of the proposed model. Copyright (c) 2011 John Wiley & Sons, Ltd.

Lipid fingerprinting in women with early-onset preeclampsia: A first look

Objectives: The aim of this preliminary study was to characterize the plasma lipid profiling of women with preeclampsia. Design and methods: Plasma samples of 8 pregnant women with early-onset preeclampsia and 8 normal pregnant women were evaluated. Lipids were extracted from plasma using the Bligh-Dyer protocol. The extracts were subjected to MALDI-MS. Data matrix was exported for partial least squares discriminant analysis (PLS-DA) and a parameter VIP was employed to reflect the variable importance in the discriminant analysis. The major discriminant variables were selected and underwent to Mann-Whitney U test. Results: A total of 1290 ions were initially identified and twelve m/z signals were highlighted as the most important lipids for the discrimination of patients with preeclampsia. The identification of these differential lipids was carried out through Lipid Database Search. Conclusions: The main classes identified were glycerophosphocholines [GP01], glycerophosphoserines [GP03], glycerophosphoglycerols [GP04], glycosyldiradylglycerols [GL05] and glycerophosphates [GP10]. (C) 2012 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.

Effects of intrusion combined with anterior retraction on apical root resorption

This study evaluated the influence of intrusion mechanics combined with anterior retraction on root resorption of the maxillary incisors. A sample of 56 patients was divided into two groups: group 1 comprised 28 patients (12 females and 16 males), presenting with an increased overjet and deep overbite (6.48 and 4.78 mm, respectively) treated with reverse curve of Spee intrusion mechanics and group 2 comprised 28 patients (12 females and 16 males) with an increased overjet of 5.67 mm and a normal overbite of 1.12 mm. The initial mean ages for groups 1 and 2 were 13.41 and 13.27 years, respectively. Pre- (T1) and post- (T2) treatment periapical radiographs were used to evaluate root resorption. The groups were compared using the Mann- Whitney U- test. Correlation between root resorption and tooth movement was investigated with Spearman's correlation coefficient. The subjects in group 1 had statistically greater root resorption (P < 0.05) than those in group 2. The initial overbite severity and the amount of correction had significant positive correlations with root resorption (r = 0.324 and r = 0.320, respectively). The combination of anterior retraction with intrusive mechanics causes more root resorption than anterior retraction of the maxillary incisors alone.

Suitability of distance metrics as indexes of home-range size in tropical rodent species

Estimators of home-range size require a large number of observations for estimation and sparse data typical of tropical studies often prohibit the use of such estimators. An alternative may be use of distance metrics as indexes of home range. However, tests of correlation between distance metrics and home-range estimators only exist for North American rodents. We evaluated the suitability of 3 distance metrics (mean distance between successive captures [SD], observed range length [ORL], and mean distance between all capture points [AD]) as indexes for home range for 2 Brazilian Atlantic forest rodents, Akodon montensis (montane grass mouse) and Delomys sublineatus (pallid Atlantic forest rat). Further, we investigated the robustness of distance metrics to low numbers of individuals and captures per individual. We observed a strong correlation between distance metrics and the home-range estimator. None of the metrics was influenced by the number of individuals. ORL presented a strong dependence on the number of captures per individual. Accuracy of SD and AD was not dependent on number of captures per individual, but precision of both metrics was low with numbers of captures below 10. We recommend the use of SD and AD instead of ORL and use of caution in interpretation of results based on trapping data with low captures per individual.

Plano de inovação para o Vocabulário Controlado do SIBIUSP: relato de experiência

Controlled vocabularies are tools of representation of information necessary to standardize the content description and classification of information, making information systems consistent and also minimizing the dispersion of information. One of the most critical points of controlled vocabularies is the need to constantly update, in terminology and the computer system. The purpose of this paper is to share the experience of the Sistema Integrado de Bibliotecas da Universidade de São Paulo - (SIBiUSP) in planning and developing an innovation plan for your Controlled Vocabulary, reporting their goals and actions. Such actions are in different stages of referral, so there are provisional results. The article also brings the description of his movements and the difficulties encountered as collaboration and knowledge for professionals that working and researching with the theme controlled vocabularies

Theoretical models to predict the mechanical behavior of thick composite tubes

This paper shows theoretical models (analytical formulations) to predict the mechanical behavior of thick composite tubes and how some parameters can influence this behavior. Thus, firstly, it was developed the analytical formulations for a pressurized tube made of composite material with a single thick ply and only one lamination angle. For this case, the stress distribution and the displacement fields are investigated as function of different lamination angles and reinforcement volume fractions. The results obtained by the theoretical model are physic consistent and coherent with the literature information. After that, the previous formulations are extended in order to predict the mechanical behavior of a thick laminated tube. Both analytical formulations are implemented as a computational tool via Matlab code. The results obtained by the computational tool are compared to the finite element analyses, and the stress distribution is considered coherent. Moreover, the engineering computational tool is used to perform failure analysis, using different types of failure criteria, which identifies the damaged ply and the mode of failure.

Studio dei ritmi circadiani in pazienti in stato vegetativo

Objective: To study circadian rhythms (sleep-wake, body core temperature and melatonin circadian rhythms) in patients in vegetative state (VS) in basal condition and after nocturnal blue light exposure. Methods: Eight patients in VS underwent two experimental sessions of 48 consecutive hours polysomnography with body core temperature (BCT) measurement separated by a 1-week interval. For a week between the two experimental sessions, patients underwent nocturnal blue light exposure (470 nm; 58 μW/cm2 for 4 hours from 11.30 p.m. to 3.30 a.m.). Brain MRI, Level of Cognitive Functioning Scale (LCF) and Disability Rating Scale (DRS) were assessed just before polysomnography. Results: In all patients LCF and DRS confirmed vegetative state. All patients showed a sleep-wake cycle. All patients showed spindle or spindle-like activities. REM sleep was detected in only 7 patients. Patients displayed a greater fragmentation of nocturnal sleep due to frequent awakenings. Mean nocturnal sleep efficiency was significantly reduced (40±22 vs. 74±17) in VS patients respect to controls. A significantly increasing of phase 1 and a significantly reduction of phase 2 and phase 3 were observed too. A modification of diurnal sleep total time and of diurnal duration of REM sleep were found after 1-week nocturnal blue light exposure. All patients displayed a normal BCT 24-h rhythm in basal condition and after nocturnal blue light exposure. A reduction of mean nocturnal melatonin levels in basal condition were observed in VS patients. Melatonin suppression after blue light exposure was observed in only 2 patients in VS. Conclusions: We found disorganized sleep-wake cycle and a normal BCT rhythm in our patients in VS. A reduction of mean nocturnal melatonin levels in basal condition were observed too.

Scienza, Tecnica, Politica: Il Problema del Metodo nel Pensiero di Jacopo Aconcio

The aim of this PhD thesis is to study accurately and in depth the figure and the literary production of the intellectual Jacopo Aconcio. This minor author of the 16th century has long been considered a sort of “enigmatic character”, a profile which results from the work of those who, for many centuries, have left his writing to its fate: a story of constant re-readings and equally incessant oversights. This is why it is necessary to re-read Aconcio’s production in its entirety and to devote to it a monographic study. Previous scholars’ interpretations will obviously be considered, but at the same time an effort will be made to go beyond them through the analysis of both published and manuscript sources, in the attempt to attain a deeper understanding of the figure of this man, who was a Christian, a military and hydraulic engineer and a political philosopher,. The title of the thesis was chosen to emphasise how, throughout the three years of the doctorate, my research concentrated in equal measure and with the same degree of importance on all the reflections and activities of Jacopo Aconcio. My object, in fact, was to establish how and to what extent the methodological thinking of the intellectual found application in, and at the same time guided, his theoretical and practical production. I did not mention in the title the author’s religious thinking, which has always been considered by everyone the most original and interesting element of his production, because religion, from the Reformation onwards, was primarily a political question and thus it was treated by almost all the authors involved in the Protestant movement - Aconcio in the first place. Even the remarks concerning the private, intimate sphere of faith have therefore been analysed in this light: only by acknowledging the centrality of the “problem of politics” in Aconcio’s theories, in fact, is it possible to interpret them correctly. This approach proves the truth of the theoretical premise to my research, that is to say the unity and orderliness of the author’s thought: in every field of knowledge, Aconcio applies the rules of the methodus resolutiva, as a means to achieve knowledge and elaborate models of pacific cohabitation in society. Aconcio’s continuous references to method can make his writing pedant and rather complex, but at the same time they allow for a consistent and valid analysis of different disciplines. I have not considered the fact that most of his reflections appear to our eyes as strongly conditioned by the time in which he lived as a limit. To see in him, as some have done, the forerunner of Descartes’ methodological discourse or, conversely, to judge his religious theories as not very modern, is to force the thought of an author who was first and foremost a Christian man of his own time. Aconcio repeats this himself several times in his writings: he wants to provide individuals with the necessary tools to reach a full-fledged scientific knowledge in the various fields, and also to enable them to seek truth incessantly in the religious domain, which is the duty of every human being. The will to find rules, instruments, effective solutions characterizes the whole of the author’s corpus: Aconcio feels he must look for truth in all the arts, aware as he is that anything can become science as long as it is analysed with method. Nevertheless, he remains a man of his own time, a Christian convinced of the existence of God, creator and governor of the world, to whom people must account for their own actions. To neglect this fact in order to construct a “character”, a generic forerunner, but not participant, of whatever philosophical current, is a dangerous and sidetracking operation. In this study, I have highlighted how Aconcio’s arguments only reveal their full meaning when read in the context in which they were born, without depriving them of their originality but also without charging them with meanings they do not possess. Through a historical-doctrinal approach, I have tried to analyse the complex web of theories and events which constitute the substratum of Aconcio’s reflection, in order to trace the correct relations between texts and contexts. The thesis is therefore organised in six chapters, dedicated respectively to Aconcio’s biography, to the methodological question, to the author’s engineering activity, to his historical knowledge and to his religious thinking, followed by a last section concerning his fortune throughout the centuries. The above-mentioned complexity is determined by the special historical moment in which the author lived. On the one hand, thanks to the new union between science and technique, the 16th century produces discoveries and inventions which make available a previously unthinkable number of notions and lead to a “revolution” in the way of studying and teaching the different subjects, which, by producing a new form of intellectual, involved in politics but also aware of scientific-technological issues, will contribute to the subsequent birth of modern science. On the other, the 16th century is ravaged by religious conflicts, which shatter the unity of the Christian world and generate theological-political disputes which will inform the history of European states for many decades. My aim is to show how Aconcio’s multifarious activity is the conscious fruit of this historical and religious situation, as well as the attempt of an answer to the request of a new kind of engagement on the intellectual’s behalf. Plunged in the discussions around methodus, employed in the most important European courts, involved in the abrupt acceleration of technical-scientific activities, and especially concerned by the radical religious reformation brought on by the Protestant movement, Jacopo Aconcio reflects this complex conjunction in his writings, without lacking in order and consistency, differently from what many scholars assume. The object of this work, therefore, is to highlight the unity of the author’s thought, in which science, technique, faith and politics are woven into a combination which, although it may appear illogical and confused, is actually tidy and methodical, and therefore in agreement with Aconcio’s own intentions and with the specific characters of European culture in the Renaissance. This theory is confirmed by the reading of the Ars muniendorum oppidorum, Aconcio’s only work which had been up till now unavailable. I am persuaded that only a methodical reading of Aconcio’s works, without forgetting nor glorifying any single one, respects the author’s will. From De methodo (1558) onwards, all his writings are summae, guides for the reader who wishes to approach the study of the various disciplines. Undoubtedly, Satan’s Stratagems (1565) is something more, not only because of its length, but because it deals with the author’s main interest: the celebration of doubt and debate as bases on which to build religious tolerance, which is the best method for pacific cohabitation in society. This, however, does not justify the total centrality which the Stratagems have enjoyed for centuries, at the expense of a proper understanding of the author’s will to offer examples of methodological rigour in all sciences. Maybe it is precisely because of the reforming power of Aconcio’s thought that, albeit often forgotten throughout the centuries, he has never ceased to reappear and continues to draw attention, both as a man and as an author. His ideas never stop stimulating the reader’s curiosity and this may ultimately be the best demonstration of their worth, independently from the historical moment in which they come back to the surface.