Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation

Two families, originally diagnosed as having nonsyndromic X-linked mental retardation (NSXLMR), were reviewed when it was shown that they had a 24-bp duplication (428-45 1dup(24bp)) in the ARX gene [Stromme et al., 2002: Nat Genet 30:441-445]. This same duplication had also been found in three other families: one with X-linked infantile spasms and hypsarrhythmia (X-linked West syndrome, MIM 308350) and two with XLMR and dystonic movements of the hands (Partington syndrome, MIM 309510). On review, manifestations of both West and Partington syndromes were found in some individuals from both families. In addition, it was found that one individual had autism and two had autistic behavior, one of whom had epilepsy. The degree of mental retardation ranged from mild to severe. A GCG trinucleotide expansion (GCG)10+7 and a deletion of 1,517 by in the ARX gene have also been found in association with the West syndrome, and a missense mutation (1058C >T) in a family with a newly recognized form of myoclonic epilepsy, severe mental retardation, and spastic paraplegia [Scheffer et al., 2002: Neurology, in press]. Evidently all these disorders are expressions of mutations in the same gene. It remains to be seen what proportions of patients with infantile spasms, focal dystonia, autism, epilepsy, and nonsyndromic mental retardation are accounted for by mutations in the ARX gene. (C) 2002 Wiley-Liss, Inc.

Thermal ecology and structural habitat use of two sympatric lizards (Carlia vivax and Lygisaurus foliorum) in subtropical Australia

The thermal ecology and structural habitat use of two closely related sympatric lizards, Carlia vivax (de Vis) and Lygisaurus foliorum de Vis, were examined in an open sclerophyll forest in subtropical Australia. Comparable mean body temperatures (T-b) and habitat temperatures (T-hab) at the point of capture were recorded for both species. However, sex- related differences in the thermal variables for C. vivax, with females displaying higher temperatures than males, resulted in some significant differences in T-b and T-hab between the species. Variation in T-b and T-hab within and between species was unrelated to time of capture. The difference in T-hab within C. vivax suggested that females were selecting warmer thermal environments than males. Both C. vivax and L. foliorum used most structural features of their habitat randomly as indicated by a similarity in canopy, shrub, ground, log and litter cover and litter depth between habitat surveys and random surveys. However, C. vivax displayed a preference for ground vegetation (height

An auction theoretical approach to fiscal wars

I examine a situation where a firm chooses to locate a new factory in one of several jurisdictions. The value of the factory may differ among jurisdictions and it depends on the private information held by each jurisdiction. Jurisdictions compete for the location of the new factory. This competition may take the form of expenditures already incurred on infrastructure, commitments to spend on infrastructure, tax incentives or even cash payments. The model combines two elements that are usually considered separately; competition is desirable because we want the factory to be located in the jurisdiction that values it the most, but competition in itself is wasteful. I show that the expected total amount paid to the firm under a large family of arrangements is the same. Moreover, I show that the ex-ante optimal mechanism that is, the mechanism that guarantees that the firm chooses the jurisdiction with the highest value for the factory, minimizes the total expected payment to the firm, and balances the budget in an ex-ante sense - can be implemented by running a standard auction and subsidizing participation.

Assessment of image quality of a standard and two dose-reducing protocols in paediatric pelvic CT

Background: Concerns exist regarding the effect of radiation dose from paediatric pelvic CT scans and the potential later risk of radiation-induced neoplasm and teratogenic outcomes in these patients. Objective: To assess the diagnostic quality of CT images of the paediatric pelvis using either reduced mAs or increased pitch compared with standard settings. Materials and methods: A prospective study of pelvic CT scans of 105 paediatric patients was performed using one of three protocols: (1) 31 at a standard protocol of 200 mA with rotation time of 0.75 s at 120 kVp and a pitch factor approximating 1.4; (2) 31 at increased pitch factor approaching 2 and 200 mA; and (3) 43 at a reduced setting of 100 mA and a pitch factor of 1.4. All other settings remained the same in all three groups. Image quality was assessed by radiologists blinded to the protocol used in each scan. Results: No significant difference was found between the quality of images acquired at standard settings and those acquired at half the standard mAs. The use of increased pitch factor resulted in a higher proportion of poor images. Conclusions: Images acquired at 120 kVp using 75 mAs are equivalent in diagnostic quality to those acquired at 150 mAs. Reduced settings can provide useful imaging of the paediatric pelvis and should be considered as a standard protocol in these situations.

Can metal complexes serve as hypoxia activated prodrugs? Investigations of a Co(III) complex of the MMP inhibitor marimastat

For many years proof that the hypoxic nature of malignant tumours can be used to selectively target anticancer drugs has been sought. Several classes of potential redox activated anticancer drugs have been developed to take advantage of the reducing environment resulting from the hypoxia. Drug complexes with redox active metal centres as carriers have been investigated, but have largely been employed with cytotoxic drugs that require release of the drug intracellularly, complicating the design of such complexes. MMP inhibitors, a new class of anticancer drug, conversely act in the extracellular environment and we have investigated inhibitor complexes with several redox active transition metals. Marimastat is an MMP inhibitor with potent in-vitro antimetastatic activity and was recently in Phase III clinical trials for a variety of cancer types. We have synthesised a Co(II1) complex of marimastat incorporating the tetradentate ligand tpa (tris(2-methylpyridyl)amine) as a carrier ligand. The complex was structurally characterised in the solid state by single crystal X-ray diffraction, the first example of a crystal structure containing marimastat. 2D COSY and NOESY NMR spectra showed that the complex exists in two isomeric forms in solution, corresponding to the cis and trans isomers yet only crystallises in one of these forms. Biological testing of the complex in mice with 4T1.2 tumours showed interesting and unexpected outcomes. Initial results of the tumour growth inhibition study showed that a significant inhibition of growth was exhibited by the complex over the free inhibitor and the control. However, the metastatic potential of both free marimastat and the complex were higher than the control indicating likely problems with the experimental protocol. Further experiments are needed to determine the potential of such complexes as hypoxia activated prodrugs but there appears at least to be some promise.

Can I have your attention please: Repressors and enhanced P3 to emotional stimuli

In four experiments ERPs to emotional (negative and positive) and neutral stimuli were examined as a function of participants’ trait anxiety and repressivedefensiveness. The experiments investigated the time course of attentional bias in the processing of such stimuli. Pictures of angry, happy, and neutral faces were used in two of the experiments and pictures ofmutilated, happy, and neutral faces were used in the others. ERP’s to emotional and neutral stimuli were recorded from parietal, temporal, and frontal sites. Analysis of the P3 component indicated that the peak magnitude of the P3 at the parietal and temporal sites reflected an interactive function of trait anxiety and defensiveness. Repressors (low reported anxiety, high defensiveness) showed a consistent pattern of greater P3 magnitude at the parietal and temporal sites for emotional faces (angry, happy, and mutilated) than did high-anxious and low-anxious participants. Participants did not differ in P3 magnitude when ERPs to neutral stimuli were investigated (e.g., a fixation cross). The findings indicate that Repressors dedicate greater processing resources to emotional material, as compared to neutral material, than either the high-anxious or low-anxious individuals. Results of the four experiments are discussed within the theoretical framework of Derakshan and Eysenck (1998). The importance of understanding the role of differences in information processing, in the experience and avoidance of emotional information, as a function of trait anxiety and defensiveness is emphasized.

Two decades of the Brazilian Standard for Marketing of Baby Food: are there reasons to celebrate?

Objective. To assess the impact that the Brazilian Standard for Marketing of Baby Food (Norma Brasileira de Comercializacao de Alimentos para Lactentes) have had on breastfeeding rates and regulating the marketing of breast-milk substitutes. Methods. Data were retrieved from a national survey conducted in 2000 that administered structured questionnaires to nine different groups. A total of 2 848 surveys were completed. Cluster sampling was employed to randomly select a sample from 159 towns located in the 26 Brazilian states and the Federal District. Results. The survey showed that participants possess satisfactory knowledge regarding the importance of breastfeeding and its ideal duration period. During the past two decades, the median duration of breastfeeding has increased, but it is still below desired levels. The mother`s return to work, maternal health issues, perception of insufficient breast milk, and information provided by health professionals were among reasons given for early termination of breastfeeding. Knowledge of the Brazilian standard was very limited, even among health professionals. Conclusions. Breastfeeding promotion in Brazil should focus on overcoming the cultural, educational, and economic barriers identified from among the various groups assessed. Interagency cooperation should include public, private, and third-parties, and focus on disseminating breastfeeding information and promoting the desirability of breastfeeding. Barriers to cooperation should be tackled in order to ensure that the main goal of the Brazilian standard-protection of infant health-can be achieved.

Demand elasticities for food products in Brazil: a two-stage budgeting system

The object of this article is to estimate demand elasticities for a basket of staple food important for providing the caloric needs of Brazilian households. These elasticities are useful in the measurement of the impact of structural reforms on poverty. A two-stage demand system was constructed, based on data from Household Expenditure Surveys (POF) produced by IBGE (The Brazilian Bureau of Statistics) in 1987/88 and 1995/96. We have used panel data to estimate the model, and have calculated income, own-price, and cross-price elasticities for eight groups of goods and services and, in the second stage, for 11 sub groups of staple food products. We estimated those elasticities for the whole sample of consumers and for two income groups.

Systemic Model for Diagnosis of the Micro, Small and Medium Enterprises from Two Cities from the Countryside of the State of So Paulo in Brazil

This article presents a proposal of a systemic model composed for the micro and small companies (MSE) of the region of Ribeiro Preto and the agents which influenced their environment. The proposed model was based on Stafford Beer`s (Diagnosing the system for organizations. Chichester, Wiley, 1985) systemic methodologies VSM (Viable System Model) and on Werner Ulrich`s (1983) CSH (Critical Systems Heuristics). The VSM is a model for the diagnosis of the structure of an organization and of its flows of information through the application of the cybernetics concepts (Narvarte, In El Modelo del Sistema Viable-MSV: experiencias de su aplicacin en Chile. Proyecto Cerebro Colectivo del IAS, Santiago, 2001). On the other hand, CSH focus on the context of the social group applied to the systemic vision as a counterpoint to the organizational management view considered by the VSM. MSE of Ribeiro Preto and Sertozinho had been analyzed as organizations inserted in systems that relate and integrate with other systems concerning the public administration, entities of representation and promotion agencies. The research questions: which are the bonds of interaction among the subsystems in this process and who are the agents involved? The systemic approach not only diagnosed a social group, formed by MSE of Ribeiro Preto and Sertozinho, public authorities and support entities, but could also delineate answers that aimed the clarification of obscure questions generating financial assistance to the formularization of efficient actions for the development of this system.

Azana atlantica, n.sp., with reduced mouthparts and two ocelli: first record of Azana for the Neotropical region (Diptera : Mycetophilidae : Sciophilinae)

A new Sciophilinae-Azana atlantica, sp. n. - is described from the Atlantic Forest in southeastern Brazil. The species has a number of distinctive apomorphic features, including loss of the mid ocellus, reduced mouthparts, Sc short and incomplete, first section of Rs missing, r-m elongated, longitudinal in position, aligned with the second section of Rs ( R(5)), unforked medial and cubital veins, R(4) missing, M(4) entirely absent, gonostyle triangular, with an inner row of elongated spines and a basal, digitiform inner projection. Some of these features are shared with other genera of the Azana-group of Sciophilinae. The shape of the scutum and the strong spines on the gonostyle make it clear that the species belongs in Azana, despite the features that are distinctive from the remaining species in the genus. There are ten species described in Azana to date, from United States, Europe, Sri Lanka, Canary Islands, tropical Africa and Baltic amber. This is the first Neotropical species belonging to the genus. The complete loss of M(4) and the separated gonocoxites suggest that Azana atlantica, sp. n. forms a monophyletic group with the Afrotropical species of the genus. Azana, Morganiella, Neoaphelomera, Neotrizygia, and Trizygia are shown to compose a small clade within the Azana-group of genera. The division of the genus into two subgenera - A. ( Azana) and A. ( Jugazana) - most probably renders A. ( Azana) paraphyletic and it is suggested that this should be for the time being abandoned.

Comparative analysis of population structure of endemic Western Atlantic hermit crab Loxopagurus loxochelis (Decapoda, Anomura) in two regions of state of Sao Paulo, Brazil

This work characterized the population structure of the hermit crab Loxopagurus loxochelis (Moreira, 1901) in terms of size frequency distribution and sex ratio. Specimens were collected monthly, over a period of one year (from July 2002 to June 2003), in seven transects (from 5 to 35 m of depth) using fishing boat equipped with two double-rig trawl nets, in Caraguatatuba and Ubatuba regions (state of Sao Paulo, Brazil). A total of 366 hermit crabs were collected in Caraguatatuba [222 males (60.65%), 114 non-ovigerous females (31.15%) and 30 ovigerous females (8.20%)] and 126 hermit crabs in Ubatuba [81 males (64.28%), 38 non-ovigerous females (30.16%) and seven ovigerous females (5.56%)]. In Caraguatatuba the highest incidence of ovigerous females occurred during winter (July 2002), whereas in Ubatuba, the number was incipient. The cephalothoracic shield length ranged from 2.0 to 7.9mm (5.29 +/- 0.96mm) in Caraguatatuba, and from 2.7 to 7.5mm (5.32 +/- 0.95mm) in Ubatuba. The mean size of males was significantly larger than the mean size of females in both regions. Overall sex ratio was in favor of males (1.54:1 in Caraguatatuba and 1.9:1 in Ubatuba). Sexual dimorphism was recorded to L. loxochelis by the presence of males in the largest size classes, following the standard pattern observed in Decapoda. There was an unimodal size distribution for both sexes, with normal distributions in both regions. The higher number of males in relation to females may indicate the existence of different growth and mortality rates between the sexes. Despite of the different geomorphologic characteristics between Caraguatatuba and Ubatuba regions, the dynamics of development was similar for both populations.

Comparative reproductive biology of two southwestern Atlantic populations of the hermit crab Pagurus exilis (Crustacea: Anomura: Paguridae)

Pagurus exilis (Benedict, 1892) is an endemic South Atlantic hermit crab with a distribution ranging from Rio de Janeiro State, Brazil, to Buenos Aires Province, Argentina. The present study analyzed the reproduction of two populations at the extremes of this geographical distribution, and compared their reproductive period, fecundity, and changes in egg size and egg volume during the incubation period in order to assess the variability over this latitudinal range. Hermit crabs were collected monthly over a 2-year period. In total, 108 females were analyzed for Brazil (44 non-ovigerous and 64 ovigerous), and 141 for Argentina (87 non-ovigerous and 54 ovigerous). Reproduction in Brazil occurs year-round, with peaks in the fall and winter seasons; in Argentina reproduction occurs only in spring and summer. The Brazilian ovigerous females were significantly larger than the Argentina ones (Brazil: SL = 5.33 +/- 1.45 mm; Argentina: SL = 4.15 +/- 0.52 mm; P < 0.001). The fecundity was 1447 +/- 831 eggs (317 to 2885) in Brazil and 987 +/- 711 eggs (114 to 2665) in Argentina, with a trend towards higher fecundity in Brazil. Eggs in the Argentina population were larger than those in Brazil for all the three stages investigated, and no changes in egg volume were found during egg development for both populations. The reproductive traits of the two populations showed some important differences, which may reflect adaptations to local environmental conditions, demonstrating a high plasticity of reproductive features of the species in Brazilian and Argentine waters. The strategy adopted by the Argentina population involves a lower production of larger eggs compared to the population in Brazil; this lower production is associated with reproduction in cold-water regions.

Allozymatic divergence between border populations of two cryptic species of the Drosophila buzzatii cluster species (Diptera: Drosophilidae)

Drosophila antonietae and Drosophila gouveai are allopatric, cactophilic, cryptic and endemic of South America species, which aedeagus morphology is considered the main diagnostic character. In this work, single close populations from the edge distributions of each species, located in an ""introgressive corridor"", were analyzed regarding temporal isozenzymatic genetic variability. Isocitrate dehydrogenase (Idh) appeared as a diagnostic locus between D. antonieate and D. gouveai because each population was fixed for different alleles. Moreover, several polymorphic loci showed accentuated divergence in the allele frequency, as evidenced by Nei`s l(0.3188) and D (1.1432), and also by Reynolds` genetic distance and identity (1.3207 and 0.7331, respectively). Our results showed that, in spite of the very similar external morphology, related evolutionary histories, close distributions, and events of introgression in the studied area, these cryptic species have high allozymatic differentiation, and this is discussed here. (C) 2010 Elsevier Ltd. All rights reserved.

Aquisition and extinction of two characteristics consistent with fear relevance

Fear relevance, the potential of a stimulus to become quickly associated with fear, is a characteristic assumed to have an evolutionary basis and to result in preferential processing. Previous research has shown that fear relevant stimuli share a number of characteristics, negative valence and preferential identification in a visual search task, for instance. The present research examined whether these two characteristics can be acquired by non-fear relevant stimuli (geometric shapes) as a result of Pavlovian fear conditioning. Two experiments employed an aversive learning paradigm with geometric shape CSs and a shock US, with stimulus ratings, affective priming and visual search performance assessed before and after acquisition and after extinction. Differential electrodermal responses, larger during CS1 than CS, were present during acquisition but not during extinction. Affective priming results suggest that the CS1 acquired negative valence during acquisition, which was lost during extinction. However, negative valence as indexed by more negative ratings for CS1 than for CS shapes seemed to survive extinction. Preferential attentional processing as indexed by faster detection of CS1 among CS shapes than vice versa on the visual search task also remained. The current research confirmed that characteristics of fear relevant stimuli can be acquired in an aversive learning episode and that they may be extinguished. This supports the proposal that fear relevance may be malleable through learning.