Experience with molecular and cytogenetic diagnosis of fragile X syndrome in Brazilian families

We report on the cytogenetic and DNA analysis of 55 families with the fragile X (FMR-1 locus) mutation (318 individuals and 15 chorionic villi samples). A total of 129 males were investigated, 54 mentally normal and 75 presenting mental retardation. Among the 54 normal males, 11 had the premutation, and none expressed the fragile site. The full mutation was detected in 73 retarded males, and 14 (18%) presented a premutation along with the full mutation (mosaics). All of them manifested the fragile site. The frequencies of fragile site expression correlated positively with the sizes of the expansion of the CGG repeats (D). Among 153 normal females, 85 were found to be heterozygous for the premutation and 15 had the full mutation. In the premutated females the fragile site was not observed or it occurred at frequencies that did not differ from those observed in 53 noncarriers. Cytogenetic analysis was thus ineffective for the diagnosis of premutated males or females. Among the 51 heterozygotes for the full mutation, 36 (70%) had some degree of mental impairment. As in males, a positive correlation was detected between the frequencies of fragile site manifestation and the size of the expansion. However, the cytogenetic test was less effective for the detection of fully mutated females, than in the case of males, since 14% false negative results were found among females. Segregation analysis confirmed that the risk of mental retardation in the offspring of heterozygotes increases with the length of D. The average observed frequency of mental retardation in the offspring of all heterozygotes was 30%. There was no indication of meiotic drive occurring in female carriers, since the number of individuals who inherited the mutation did not differ from the number of those inheriting the normal allele. No new mutations were detected in the 55 genealogies studied here.

The contagion effect of public debt on monetary policy: the Brazilian experience

This paper attempts to explain why the Brazilian inter-bank interest rate is so high compared with rates practiced by other emerging economies. The interplay between the markets for bank reserves and government securities feeds into the inter-bank rate the risk premium of the Brazilian public debt.

Familiar characteristics and received familiar support among Brazilian adolescents with and without pregnancy experience

The present paper aimed to investigate how adolescents with pregnancy experience evaluate received support from their families in comparison with an adolescent group without pregnancy experience. 452 low income adolescents, both sex, aged 14 to 19 years old answered to a questionnaire. The results revealed that more girls (64.2 %) than boys (35.8 %) declared pregnancy experience, ?2 (2, n = 2617) = 48.32, p < .001. Moreover, it was observed that the group with pregnancy experience, in comparison with other group, revealed more perception on the family relationships safety, t (408) = -3.0, p < .01; mutual respect among family members in their homes, t (392) = -2.3, p < .05; and received stronger general support from their family, t (397) = -1,3, p < .05. These results are discussed.

The relationship between L3 transfer and structural similarity across L3 development: raising across an experience in Brazilian Portuguese

The present study examines three competing models of morphosyntactic transfer in third language (L3) acquisition, examining the particular domain of the feature configuration of embedded T in L3 Brazilian Portuguese (BP) at the initial stages and then through development. The methodology alternates Spanish and English as the L1 and L2 to tease apart the source of transfer to L3 BP. Results from a scalar grammaticality acceptability task show unequivocal transfer of Spanish irrespective of Spanish’s status as an L1 or L2. The data thus support the Typological Primacy Model (Rothman 2010, 2011, 2013a, 2013b), which proposes that multilingual transfer is selected by factors related to comparative structural similarity. Given that Spanish transfer at the L3 initial stages creates the need for feature reconfiguration to converge on the target BP grammar, the second part of this chapter examines the developmental consequences of what the TPM models in cases of non-facilitative initial transfer, that is, the developmental path of feature reconfiguration of embedded T in L3 BP by English/Spanish bilinguals. Given what these data reveal, we address the role of regressive transfer as a correlate of L3 proficiency gains.

Narrowing socioeconomic inequality in child stunting: the Brazilian experience, 1974-2007

Objective To assess trends in the prevalence and social distribution of child stunting in Brazil to evaluate the effect of income and basic service redistribution policies implemented in that country in the recent past. Methods The prevalence of stunting (height-for-age z score below 2 using the Child Growth Standards of the World Health Organization) among children aged less than 5 years was estimated from data collected during national household surveys carried out in Brazil in 1974-75 (n = 34 409), 1989 (n = 7374), 1996 (n = 4149) and 2006-07 (n = 4414). Absolute and relative socioeconomic inequality in stunting was measured by means of the slope index and the concentration index of inequality, respectively. Findings Over a 33-year period, we documented a steady decline in the national prevalence of stunting from 37.1% to 7.1%. Prevalence dropped from 59.0% to 11.2% in the poorest quintile and from 12.1% to 3.3% among the wealthiest quintile. The decline was particularly steep in the last 10 years of the period (1996 to 2007), when the gaps between poor and wealthy families with children under 5 were also reduced in terms of purchasing power; access to education, health care and water and sanitation services; and reproductive health indicators. Conclusion In Brazil, socioeconomic development coupled with equity-oriented public policies have been accompanied by marked improvements in living conditions and a substantial decline in child undernutrition, as well as a reduction of the gap in nutritional status between children in the highest and lowest socioeconomic quintiles. Future studies will show whether these gains will be maintained under the current global economic crisis.

The contagion effect of public debt on monetary policy: the brazilian experience

This paper attempts to explain why the Brazilian inter-bank interest rate is so high compared with rates practiced by other emerging economies. The interplay between the markets for bank reserves and government securities feeds into the inter-bank rate the risk premium of the Brazilian public debt.

Pharmaceutical patent bargains: the Brazilian experience

In the backdrop of the strict patent regime flatly adopted by the World Trade Organization (WTO) for all countries, a few countries constantly challenge this system through aggressive patent bargains. Within the pharmaceutical sector, noticeably, some countries now threaten to issue or otherwise actually issue compulsory licenses that may sway large pharmaceutical companies into selling drugs with large discounts or into granting voluntary licenses domestically. That is conspicuously the negotiation strategy adopted by Brazil in its negotiations with big international pharmaceutical companies.This paper explains Brazil’s aggressive bargaining approach based on an analysis of two aspects of its political economy. The first has to do with the international context of patent bargaining in the post-WTO era. Accordingly, the existence of large and fast growing domestic markets position countries such as Brazil as strategic destinations for Foreign Direct Investment (FDI) and trade. Together with an absence of a propensity to innovate in pharmaceutical products, these conditions boost Brazil’s bargaining power for issuing compulsory licenses over pharmaceutical products. The second aspect is related to political economy dynamics inside Brazil. Accordingly, the political framework in Brazil undermines long-term policies and favors short-sighted ones also vis-a-vis R&D investments in the pharmaceutical industry. This remains true regardless of the strictness of the patent regime in place. The lesson of Brazil is relevant arguably for other more powerful developing countries which presently examine Brazil's approach while further challenging the WTO's strict patent policy for the future.

Interviewing the Brazilian military: reflections on a research experience

My purpose is to present some reflections about my experience in interviewing Brazilian military officers. Despite the specificity of the Brazilian case, I trust that these observations may serve as a comparative reference for the study of military institutions in other contexts.

Cartel deterrence and settlements: the Brazilian experience

Settlements are an important part of a program of cartel deterrence, particularly when the likelihood of conviction and the litigation costs are higher. This type of negotiated procedure to reach finality is in essence complementary to the fully adversarial procedures associated to the trial by the administrative or judicial courts, and to other investigative instruments, such as the leniency agreement. The Brazilian experience provides some insights about the different models of direct settlement in cartel cases and the complex interaction among settlements, leniency agreements, and trial outcome. First, there is leeway for the complementary models of settlements, the first oriented mainly to increasing the likelihood of detection, and the second oriented to saving social costs of litigation. Second, the concern with the preservation of the demand for leniency agreements led the competition authority to restrict the use of settlements, which are effectively designed for the defendants that are likely guilty and give higher value to finality. The recent experience illustrates that the current settlement policy has not caused any adverse effect on leniency agreements, while reducing litigation costs and granting finality in some cases.