MSX1 gene and nonsyndromic oral clefts in a Southern Brazilian population

Nonsyndromic oral clefts (NSOC) are the most common craniofacial birth defects in humans. The etiology of NSOC is complex, involving both genetic and environmental factors. Several genes that play a role in cellular proliferation, differentiation, and apoptosis have been associated with clefting. For example, variations in the homeobox gene family member MSX1, including a CA repeat located within its single intron, may play a role in clefting. The aim of this study was to investigate the association between MSX1CA repeat polymorphism and NSOC in a Southern Brazilian population using a case-parent triad design. We studied 182 nuclear families with NSOC recruited from the Hospital de Clínicas de Porto Alegre in Southern Brazil. The polymorphic region was amplified by the polymerase chain reaction and analyzed by using an automated sequencer. Among the 182 families studied, four different alleles were observed, at frequencies of 0.057 (175 bp), 0.169 (173 bp), 0.096 (171 bp) and 0.67 (169 bp). A transmission disequilibrium test with a family-based association test (FBAT) software program was used for analysis. FBAT analysis showed overtransmission of the 169 bp allele in NSOC (P=0.0005). These results suggest that the CA repeat polymorphism of theMSX1 gene may play a role in risk of NSOC in populations from Southern Brazil.

Bootstrapping Autoregressions with Conditional Heteroskedasticity of Unknown Form

Conditional heteroskedasticity is an important feature of many macroeconomic and financial time series. Standard residual-based bootstrap procedures for dynamic regression models treat the regression error as i.i.d. These procedures are invalid in the presence of conditional heteroskedasticity. We establish the asymptotic validity of three easy-to-implement alternative bootstrap proposals for stationary autoregressive processes with m.d.s. errors subject to possible conditional heteroskedasticity of unknown form. These proposals are the fixed-design wild bootstrap, the recursive-design wild bootstrap and the pairwise bootstrap. In a simulation study all three procedures tend to be more accurate in small samples than the conventional large-sample approximation based on robust standard errors. In contrast, standard residual-based bootstrap methods for models with i.i.d. errors may be very inaccurate if the i.i.d. assumption is violated. We conclude that in many empirical applications the proposed robust bootstrap procedures should routinely replace conventional bootstrap procedures for autoregressions based on the i.i.d. error assumption.

Sostenibilidad fiscal: una aproximación con datos panel para 8 países Latinoaméricanos

Este documento examina la hipótesis de sostenibilidad fiscal para 8 países de Latinoamérica. A partir de un modelo de datos panel, se determina si los ingresos y gasto primario de los Gobiernos entre 1960 - 2009 están cointegrados, es decir, si son sostenibles a largo plazo. Para esto, se utilizaron pruebas de raíz unitaria y cointegración de segunda generación con datos panel macroeconómicos, lo que permite tener en cuenta la dependencia cruzada entre los países, así como los posibles quiebres estructurales en la relación que estén determinados de manera endógena; en particular, se usan la prueba de estacionariedad de Hadri y Rao (2008) y la prueba de cointegración de Westerlund (2006). Como resultado del análisis se encontró evidencia empírica de que en el período bajo estudio el déficit primario en los 8 países latinoamericanos es sostenible pero en sentido débil.

Discriminative pattern mining in software fault detection

We present a method to enhance fault localization for software systems based on a frequent pattern mining algorithm. Our method is based on a large set of test cases for a given set of programs in which faults can be detected. The test executions are recorded as function call trees. Based on test oracles the tests can be classified into successful and failing tests. A frequent pattern mining algorithm is used to identify frequent subtrees in successful and failing test executions. This information is used to rank functions according to their likelihood of containing a fault. The ranking suggests an order in which to examine the functions during fault analysis. We validate our approach experimentally using a subset of Siemens benchmark programs.

In vitro assessment of the bioaccessibility of brominated flame retardants in indoor dust using a colon extended model of the human gastrointestinal tract

An in vitro colon extended physiologically based extraction test (CEPBET) which incorporates human gastrointestinal tract (GIT) parameters (including pH and chemistry, solid-to-fluid ratio, mixing and emptying rates) was applied for the first time to study the bioaccessibility of brominated flame retardants (BFRs) from the 3 main GIT compartments (stomach, small intestine and colon) following ingestion of indoor dust. Results revealed the bioaccessibility of γ-HBCD (72%) was less than that for α- and β-isomers (92% and 80% respectively) which may be attributed to the lower aqueous solubility of the γ-isomer (2 μg L−1) compared to the α- and β-isomers (45 and 15 μg L−1 respectively). No significant change in the enantiomeric fractions of HBCDs was observed in any of the studied samples. However, this does not completely exclude the possibility of in vivo enantioselective absorption of HBCDs, as the GIT cell lining and bacterial flora – which may act enantioselectively – are not included in the current CE-PBET model. While TBBP-A was almost completely (94%) bioaccessible, BDE-209 was the least (14%) bioaccessible of the studied BFRs. Bioaccessibility of tri-hepta BDEs ranged from 32–58%. No decrease in the bioaccessibility with increasing level of bromination was observed in the studied PBDEs.

A comparison of duality and energy a posteriori estimates for $\mathrm {L}_{\infty }(0,T;\mathrm {L}_2(\varOmega ))$ in parabolic problems

We use the elliptic reconstruction technique in combination with a duality approach to prove a posteriori error estimates for fully discrete backward Euler scheme for linear parabolic equations. As an application, we combine our result with the residual based estimators from the a posteriori estimation for elliptic problems to derive space-error indicators and thus a fully practical version of the estimators bounding the error in the $ \mathrm {L}_{\infty }(0,T;\mathrm {L}_2(\varOmega ))$ norm. These estimators, which are of optimal order, extend those introduced by Eriksson and Johnson in 1991 by taking into account the error induced by the mesh changes and allowing for a more flexible use of the elliptic estimators. For comparison with previous results we derive also an energy-based a posteriori estimate for the $ \mathrm {L}_{\infty }(0,T;\mathrm {L}_2(\varOmega ))$-error which simplifies a previous one given by Lakkis and Makridakis in 2006. We then compare both estimators (duality vs. energy) in practical situations and draw conclusions.

Antecipação do movimento do preço da commodity aço em contratos a preço firme no mercado de engenharia industrial no Brasil

Nesta Tese foram apresentadas algumas alternativas de antecipação do preço futuro do aço a partir do emprego de modelos econométricos. Estes modelos foram definidos em função da análise do comportamento, no longo prazo, entre as séries de preços do aço no Brasil vis-à-vis seus respectivos preços no exterior. A verificação deste comportamento de longo prazo foi realizada através do teste de cointegração. A partir da constatação da não cointegração dessas séries, foram definidos dois modelos, cujas previsões, para diversos períodos, foram aqui apresentadas. Foi feita uma análise comparativa, onde foram identificados o melhor modelo e para quais temporalidades de previsão são melhor empregados. Como foi aqui comprovado, o aço é um insumo primordial nos empreendimentos industriais. Considerando que, atualmente, os preços são demandados de forma firme, ou seja, sem possibilidade de alteração, faz-se necessária a identificação de mecanismos de antecipação dos movimentos futuros desta commodity, de modo que se possa considerá-los na definição do preço ofertado, reduzindo assim perdas por suas flutuações inesperadas.

O Impacto da Política Monetária sobre os juros e crédito bancário

In the last years, credit market has shown strong growth since interest rates and bank spreads have followed a declined route. This dissertation analyzes the impact of the monetary policy on the bank margins and interest rates of some type of credit operations and tests the relation between interest rates, loans and GDP. The cointegration test results can not reject the hypothesis that Selic rate could be affecting the bank margins and interest rates and also that there is a long term relation between interest rates, loans and GDP.

Análise do mecanismo de transmissão dos preços internacionais de commodities agrícolas sobre o comportamento da taxa de câmbio real no Brasil

This paper examined the transmission mechanism of international prices of agricultural commodities into the real exchange rate in Brazil for the period from January 2000 to February 2010. We used time series models (ARIMA Model, Transfer Model, Intervention Analysis, Johansen Cointegration Test) in determination of the short and long run elasticities. Transfer Function Model results show that changes in international prices of agricultural commodities are transmitted to the real exchange rate in Brazil in the short run, however, that transmission is less than unity, thus configuring the inelastic relationship. Johansen cointegration tests show that these variables are not co-integrated, no longer converge to the long-run equilibrium. These results are in agreement Cashim et al. (2004), which also found no long run relationship between real exchange rate and commodity prices in the case of Brazil. These results show that monetary shocks have greater weight on changes of the real exchange rate than real shocks.

Comparação de modelos de regressão aleatória para estimação de parâmetros genéticos em caprinos leiteiros

Objetivou-se avaliar a melhor modelagem para as variâncias genética aditiva, de ambiente permanente e residual da produção de leite no dia do controle (PLDC) de caprinos. Utilizaram-se modelos de regressão aleatória sobre polinômios ortogonais de Legendre com diferentes ordens de ajuste e variância residual heterogênea. Consideraram-se como efeitos fixos os efeitos de grupo de contemporâneos, a idade da cabra ao parto (co-variável) e a regressão fixa da PLDC sobre polinômios de Legendre, para modelar a trajetória média da população; e, como efeitos aleatórios, os efeitos genético aditivo e de ambiente permanente. O modelo com quatro classes de variâncias residuais foi o que proporcionou melhor ajuste. Os valores do logaritmo da função de verossimilhança, de AIC e BIC apontaram para seleção de modelos com ordens mais altas (cinco para o efeito genético e sete para o efeito de ambiente permanente). Entretanto, os autovalores associados às matrizes de co-variâncias entre os coeficientes de regressão indicaram a possibilidade de redução da dimensionalidade. As altas ordens de ajuste proporcionaram estimativas de variâncias genéticas e correlações genéticas e de ambiente permanente que não condizem com o fenômeno biológico estudado. O modelo de quinta ordem para a variância genética aditiva e de sétima ordem para o ambiente permanente foi indicado. Entretanto, um modelo mais parcimonioso, de quarta ordem para o efeito genético aditivo e de sexta ordem para o efeito de ambiente permanente, foi suficiente para ajustar as variâncias nos dados.

Estimación de parámetros genéticos para producción de leche en el día de control en búfalas de primer parto

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

Mechanical and chemical analyses across dental porcelain fused to CP titanium or Ti6Al4V

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Association of AXIN2 with Non-syndromic Oral Clefts in Multiple Populations

We have previously shown the association of AXIN2 with oral clefts in a US population. Here, we expanded our study to explore the association of 11 AXIN2 markers in 682 cleft families from multiple populations. Alleles for each AXIN2 marker were tested for transmission distortion with clefts by means of the Family-based Association Test. We observed an association with SNP rs7224837 and all clefts in the combined populations (p = 0.001), and with SNP rs3923086 and cleft lip and palate in Asian populations (p = 0.004). We confirmed our association findings in an additional 528 cleft families from the United States (p < 0.009). We tested for gene-gene interaction between AXIN2 and additional cleft susceptibility loci. We assessed and detected Axin2 mRNA and protein expression during murine palatogenesis. In addition, we also observed co-localization of Axin2 with Irf6 proteins, particularly in the epithelium. Our results continue to support a role for AXIN2 in the etiology of human clefting. Additional studies should be performed to improve our understanding of the biological mechanisms linking AXIN2 to oral clefts.

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Background Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in SRCAP were determined to be disease-causing. With the availability of a DNA based confirmatory test, we set forth to define the clinical features of this syndrome. Methods and results Clinical information on fifty-two individuals with SRCAP mutations was collected using standardized questionnaires. Twenty-four males and twenty-eight females were studied with ages ranging from 2 to 52 years. The facial phenotype and expressive language impairments were defining features within the group. Height measurements were typically between minus two and minus four standard deviations, with occipitofrontal circumferences usually within the average range. Thirty-three of the subjects (63%) had at least one major anomaly requiring medical intervention. We did not observe any specific phenotype-genotype correlations. Conclusions This large cohort of individuals with molecularly confirmed FHS has allowed us to better delineate the clinical features of this rare but classic genetic syndrome, thereby facilitating the development of management protocols.

Essays in Macroecometrics: methodological aspects and empirical applications

In the first chapter, I develop a panel no-cointegration test which extends Pesaran, Shin and Smith (2001)'s bounds test to the panel framework by considering the individual regressions in a Seemingly Unrelated Regression (SUR) system. This allows to take into account unobserved common factors that contemporaneously affect all the units of the panel and provides, at the same time, unit-specific test statistics. Moreover, the approach is particularly suited when the number of individuals of the panel is small relatively to the number of time series observations. I develop the algorithm to implement the test and I use Monte Carlo simulation to analyze the properties of the test. The small sample properties of the test are remarkable, compared to its single equation counterpart. I illustrate the use of the test through a test of Purchasing Power Parity in a panel of EU15 countries. In the second chapter of my PhD thesis, I verify the Expectation Hypothesis of the Term Structure in the repurchasing agreements (repo) market with a new testing approach. I consider an "inexact" formulation of the EHTS, which models a time-varying component in the risk premia and I treat the interest rates as a non-stationary cointegrated system. The effect of the heteroskedasticity is controlled by means of testing procedures (bootstrap and heteroskedasticity correction) which are robust to variance and covariance shifts over time. I fi#nd that the long-run implications of EHTS are verified. A rolling window analysis clarifies that the EHTS is only rejected in periods of turbulence of #financial markets. The third chapter introduces the Stata command "bootrank" which implements the bootstrap likelihood ratio rank test algorithm developed by Cavaliere et al. (2012). The command is illustrated through an empirical application on the term structure of interest rates in the US.