Auriculo-condylar syndrome: mapping of a first locus and evidence for genetic heterogeneity

Auriculo-condylar syndrome (ACS), an autosomal dominant disorder of first and second pharyngeal arches, is characterized by malformed ears (`question mark ears`), prominent cheeks, microstomia, abnormal temporomandibular joint, and mandibular condyle hypoplasia. Penetrance seems to be complete, but there is high inter-and intra-familial phenotypic variation, with no evidence of genetic heterogeneity. We herein describe a new multigeneration family with 11 affected individuals (F1), in whom we confirm intra-familial clinical variability. Facial asymmetry, a clinical feature not highlighted in other ACS reports, was highly prevalent among the patients reported here. The gene responsible for ACS is still unknown and its identification will certainly contribute to the understanding of human craniofacial development. No chromosomal rearrangements have been associated with ACS, thus mapping and positional cloning is the best approach to identify this disease gene. To map the ACS gene, we conducted linkage analysis in two large ACS families, F1 and F2 (F2; reported elsewhere). Through segregation analysis, we first excluded three known loci associated with disorders of first and second pharyngeal arches (Treacher Collins syndrome, oculo-auriculo-vertebral spectrum, and Townes-Brocks syndrome). Next, we performed a wide genome search and we observed evidence of linkage to 1p21.1-q23.3 in F2 (LOD max 3.01 at theta = 0). Interestingly, this locus was not linked to the phenotype segregating in F1. Therefore, our results led to the mapping of a first locus of ACS (ACS1) and also showed evidence for genetic heterogeneity, suggesting that there are at least two loci responsible for this phenotype.

TEM, XRD and AFM study of poly(o-ethoxyaniline) films: new evidence for the formation of conducting islands

The existence of conducting islands in polyaniline films has long been proposed in the literature, which would be consistent with conducting mechanisms based on hopping. Obtaining direct evidence of conducting islands, however, is not straightforward. In this paper, conducting islands were visualized in poly(o-ethoxyaniline) (POEA) films prepared at low pH, using Transmission Electron Microscopy (TEM) and atomic force spectroscopy (AFS). The size of the islands varied between 67 and 470 angstrom for a pH=3.0, with a larger average being obtained with AFS, probably due to the finite size effect of the atomic force microscopy tip. In AFS, the conducting islands were denoted by regions with repulsive forces due to the double-layer forces. On the basis of X-ray diffraction (XRD) patterns for POEA in the powder form, we infer that the conducting islands are crystalline, and therefore a POEA film is believed to consist of conducting islands dispersed in an insulating, amorphous matrix. From conductivity measurements we inferred the charge transport to be governed by a typical quasi-one dimensional variable range hopping (VRH) mechanism.

Decomposing Consumer Wealth Effects: Evidence on the Role of Real Estate Assets Following the Wealth Cycle of 1990-2002

During the period of 1990-2002 US households experienced a dramatic wealth cycle, induced by a 369% appreciation in the value of real per capita liquid stock market assets followed by a 55% decline. However, consumer spending in real terms continued to rise throughout this period. Using data from 1990-2005, traditional life-cycle approaches to estimating macroeconomic wealth effects confront two puzzles: (i) econometric evidence of a stable cointegrating relationship among consumption, income, and wealth is weak at best; and (ii) life-cycle models that rely on aggregate measures of wealth cannot explain why consumption did not collapse when the value of stock market assets declined so dramatically. We address both puzzles by decomposing wealth according to the liquidity of household assets. We find that the significant appreciation in the value of real estate assets that occurred after the peak of the wealth cycle helped sustain consumer spending from 2001 to 2005.

Evaluating the existence of structural change in the brazilian term structure of interest: evidence based on cointegration models with structural break

This paper investigates whether there is evidence of structural change in the Brazilian term structure of interest rates. Multivariate cointegration techniques are used to verify this evidence. Two econometrics models are estimated. The rst one is a Vector Autoregressive Model with Error Correction Mechanism (VECM) with smooth transition in the deterministic coe¢ cients (Ripatti and Saikkonen [25]). The second one is a VECM with abrupt structural change formulated by Hansen [13]. Two datasets were analysed. The rst one contains a nominal interest rate with maturity up to three years. The second data set focuses on maturity up to one year. The rst data set focuses on a sample period from 1995 to 2010 and the second from 1998 to 2010. The frequency is monthly. The estimated models suggest the existence of structural change in the Brazilian term structure. It was possible to document the existence of multiple regimes using both techniques for both databases. The risk premium for di¤erent spreads varied considerably during the earliest period of both samples and seemed to converge to stable and lower values at the end of the sample period. Long-term risk premiums seemed to converge to inter-national standards, although the Brazilian term structure is still subject to liquidity problems for longer maturities.

Market timing as a motive for IPOs: evidence from IPOs of Japanese keiretsu firms

This paper examines the relevance of market timing as a motive for initial public offerings (IPOs) by comparing IPOs of firms that are members of Japanese keiretsu industrial groups with IPOs of independent Japanese firms. We argue that Japanese keiretsu-linked IPOs form a favorable sample to find evidence of the market timing motive. Instead, the data provide strong evidence for a restructuring motive and little evidence for market timing. We find that long run returns to keiretsu and independent IPOs are not negative, contrary to U.S. evidence, and are indistinguishable from each other; initial returns to keiretsu-linked IPOs are significantly higher than to independent firms; and a significant number of keiretsu IPO firms adjust their linkages with the group following the IPO, with both increases and decreases.

Evidence on the incentive optimality of share contracts

Ever since Adam Smith, economists have argued that share contracts do not provide proper incentives. This paper uses tenancy data from India to assess the existence of missing incentives in this classical example of moral hazard. Sharecroppers are found to be less productive than owners, but as productive as fixed-rent tenants. Also, the productivity gap between owners and both types of tenants is driven by sample-selection issues. An endogenous selection rule matches tenancy contracts with less-skilled farmers and lower-quality lands. Due to complementarity, such a matching affects tenants’ input choices. Controlling for that, the contract form has no effect on the expected output. Next, I explicitly model farmer’s optimal decisions to test the existence of non-contractible inputs being misused. No evidence of missing incentives is found.

Evidence for Reductive Genome Evolution and Lateral Acquisition of Virulence Functions in Two Corynebacterium pseudotuberculosis Strains

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Refinement and initial validation of a multidimensional composite scale for use in assessing acute postoperative pain in cats

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

Evidence for Neoproterozoic continental arc magmatism in the Santa Quitéria Batholith of Ceará State, NW Borborema Province, NE Brazil: Implications for the assembly of West Gondwana

Recent field investigations and geochronological studies of Neoproterozoic rocks in the northwestern part of the Borborema Province, Ceará State, NE Brazil provide important clues pertaining to the nature of convergence between the Borborema Province and the West African-São Luis craton during the assembly of West Gondwana. U-Pb zircon data indicate that the earliest evidence of convergent magmatism along the northwest margin of the Borborema Province occurred around 777 Ma, and was followed by the development of a large continental arc batholith (Santa Quitéria batholith) between ca. 665 and 591 Ma within the central part of Ceará State. These findings, along with supporting geophysical data, suggest that convergence between the Borborema Province and the West African-São Luis craton involved closure of an oceanic realm with subduction polarity to the southeast beneath the northwestern part of the province. Consequently, it seems likely that the Pharusian Ocean was continuous from the Hoggar Province in West Africa into South America during the late Neoproterozoic and additional data suggests that it may have even been connected with the Goianides Ocean of the Brasília Belt farther to the southwest.

Economic impact of disasters: evidence from DALA assessments by ECLAC in Latin America and the Caribbean

Incluye Bibliografía

Evidence for euphotic zone anoxia during the deposition of Aptian source rocks based on aryl isoprenoids in petroleum, Sergipe-Alagoas Basin, northeastern Brazil

Four crude oil samples from the Sergipe-Alagoas Basin, northeastern Brazil, were analyzed using full scan gas chromatography-quadrupole mass spectrometry (GC-qMS) for biomarkers, in order to correlate them using aromatic carotenoids thereby enhancing knowledge about the depositional environment of their source rocks. The geochemical parameters derived from saturated fractions of the oils show evidence of little or no biodegradation and similar thermal maturation (Ts/(Ts+Tm) for terpanes, C29 αββ/(αββ+ααα), C27, and C29 20S/(20S+20R) for steranes). Low pristane/phytane ratios and the abundance of gammacerane and β-carotane are indicative of an anoxic and saline depositional environment for the source rocks. Moreover, we identified a large range of diagenetic and catagenetic products of the aromatic carotenoid isorenieratene, including C40, C33, and C32 diaryl isoprenoids and aryl isoprenoid derivatives with short side chains and/or additional rings. These results indicate anoxia in the photic zone during the deposition of the source rocks. © 2013 The Authors.

A Silent Enzootic of an Orthopoxvirus in Ghana, West Africa: Evidence for Multi-Species Involvement in the Absence of Widespread Human Disease

Human monkeypox has never been reported in Ghana, but rodents captured in forested areas of southern Ghana were the source of the monkeypox virus introduced into the United States in 2003. Subsequent to the outbreak in the United States, 204 animals were collected from two commercial trapping sites in Ghana. Animal tissues were examined for the presence of orthopoxvirus (OPXV) DNA using a real-time polymerase chain reaction, and sera were assayed for antibodies against OPXV. Animals from five genera (Cricetomys , Graphiurus , Funiscirus, and Heliosciurus ) had antibodies against OPXV, and three genera (Cricetomys , Graphiurus , and Xerus) had evidence of OPXV DNA in tissues. Additionally, 172 persons living near the trapping sites were interviewed regarding risk factors for OPXV exposure, and their sera were analyzed. Fifty-three percent had IgG against OPXV; none had IgM. Our findings suggest that several species of forest-dwelling rodents from Ghana are susceptible to naturally occurring OPXV infection, and that persons living near forests may have low-level or indirect exposure to OPXV-infected animals, possibly resulting in sub-clinical infections.

Electrophysiological evidence for impairment of contrast sensitivity in mercury vapor occupational intoxication

Contrast sensitivity (CS) was evaluated in 41 former workers from a lamp manufacturing plant who were on disability retirement due to exposure to mercury and 14 age-matched controls. The CS was measured monocularly using the sweep visual evoked potential (sVEP) paradigm at 6 spatial frequencies (0.2, 0.8, 2.0, 4.0, 15.0, and 30 cpd). Statistical difference (p < 0.05) was found between the controls and the patient right and left eyes for 2.0 and 4.0 cpd. According the results in those spatial frequencies the eyes were classified in best and worst. Statistical differences were found between the controls and the best eyes for 2.0 and 4.0 cpd and for 0.8, 2.0, and 4.0 cpd for their worst eyes. No correlation was found between CS results and the time of exposure (mean 8.9 yr +/- 4.1), time away from the mercury source (mean = 6.0 yr +/- 3.9), urinary mercury level at the time of work (mean = 40.6 mu g/g +/-36.3) or with the mercury level at the CS measurement time (mean = 1.6 mu g/g +/-1.1). We show the first evidence of a permanent impairment in CS measured objectively with the sVEP. Our data complement the previous psychophysical works reporting a diffuse impairment in the CS function showing a CS reduction in the low to middle spatial frequencies. In conclusion, non-reversible CS impairment was found in occupational exposure to mercury vapor. We suggest that CS measurement should be included in studies of the mercury effects of occupational exposure. (C) 2007 Elsevier Inc. All rights reserved.

Validation of the Duke Religion Index: DUREL (Portuguese Version)

The purpose of the current study was to examine the psychometric properties of the Portuguese version of the Duke Religion Index (PDUREL) in a community setting. PDUREL was translated and adapted for administration to 383 individuals from a population-based study of low-income community-dwelling adults. The PDUREL intrinsic subscale and total scores demonstrated high internal consistency (alphas ranging from 0.733 for the total scale score to 0.758 for the intrinsic subscale). Correlations among the DUREL subscales were also examined for evidence of discriminant validity. Correlations were ranging from 0.36 to 0.46, indicating significant overlap between the scales without marked redundancy. PDUREL is a reliable and valid scale. The availability of a comprehensive, but brief measure of religiousness can help to study the role of religiousness in health by researchers from countries that speak the Portuguese language.

Orthorexia nervosa behavior in a sample of Brazilian dietitians assessed by the Portuguese version of ORTO-15

BACKGROUND: Orthorexia nervosa (ON) is described as an obsessive pathological behavior characterized by a strong preoccupation with healthy eating and the avoidance of foods or ingredients considered unhealthy by the subject. Although it is still not officially recognized as an eating disorder, previous studies have discussed its frequency in some groups and a fifteen-question test (ORTO-15) was developed elsewhere to assess ON behavior. OBJECTIVE: The present study aimed to evaluate ON behavior in a sample of Brazilian dietitians after testing the psychometric properties of the Portuguese version of ORTO-15. METHODS: A total of 392 dietitians answered an online version of the test. The answers were analyzed regarding ON tendency, according with the scoring grid proposed by its authors. Exploratory factor analysis was performed and internal consistency was assessed. RESULTS: It was found that three questions of the test presented loadings lower than 0.5. The 12 remaining question formed 3 factors with internal consistency of -0.51, 0.63 and 0.47. The answers of the participants to these questions revealed a tendency to orthorexic behavior, mainly regarding aspects such as: making food choices conditioned by worry about health status, evaluating food rather from nutritional quality than from its taste, believing that consuming healthy food may improve appearance, discrediting the influence of mood on eating behavior and banning food choices considered by them as eating transgressions. CONCLUSION: There is no evidence of the validity and reliability of the ORTO-15 with the initial psychometric evaluation performed. Further analyses are needed. Nevertheless, it was possible to observe a high frequency of orthorexic behavior among the studied Brazilian dietitians. However, additional studies are needed to completely understand dietitians behavior toward ON. (Eat. Weight Disord. 17: e29-c35, 2012). (C) 2012, Editrice Kurtis