Mutations, Clinical Findings and Survival Estimates in South American Patients with X-Linked Adrenoleukodystrophy

In this study, we analyzed the ABCD1 gene in X-linked adrenoleukodystrophy (X-ALD) patients and relatives from 38 unrelated families from South America, as well as phenotypic proportions, survival estimates, and the potential effect of geographical origin in clinical characteristics. Methods: X-ALD patients from Brazil, Argentina and Uruguay were invited to participate in molecular studies to determine their genetic status, characterize the mutations and improve the genetic counseling of their families. All samples were screened by SSCP analysis of PCR fragments, followed by automated DNA sequencing to establish the specific mutation in each family. Age at onset and at death, male phenotypes, genetic status of women, and the effect of family and of latitude of origin were also studied. Results: We identified thirty-six different mutations (twelve novel). This population had an important allelic heterogeneity, as only p. Arg518Gln was repeatedly found (three families). Four cases carried de novo mutations. Intra-familiar phenotype variability was observed in all families. Out of 87 affected males identified, 65% had the cerebral phenotype (CALD). The mean (95% CI) ages at onset and at death of the CALD were 10.9 (9.1-12.7) and 24.7 (19.8-29.6) years. No association was found between phenotypic manifestations and latitude of origin. One index-case was a girl with CALD who carried an ABCD1 mutation, and had completely skewed X inactivation. Conclusions: This study extends the spectrum of mutations in X-ALD, confirms the high rates of de novo mutations and the absence of common mutations, and suggests a possible high frequency of cerebral forms in our population.

Experimental hyperprolinemia induces mild oxidative stress, metabolic changes, and tissue adaptation in rat liver

The present study investigated the effects of chronic hyperprolinemia on oxidative and metabolic status in liver and serum of rats. Wistar rats received daily subcutaneous injections of proline from their 6th to 28th day of life. Twelve hours after the last injection the rats were sacrificed and liver and serum were collected. Results showed that hyperprolinemia induced a significant reduction in total antioxidant potential and thiobarbituric acid-reactive substances. The activities of the antioxidant enzymes catalase and superoxide dismutase were significantly increased after chronic proline administration, while glutathione (GSH) peroxidase activity, dichlorofluorescin oxidation, GSH, sulfhydryl, and carbonyl content remained unaltered. Histological analyses of the liver revealed that proline treatment induced changes of the hepatic microarchitecture and increased the number of inflammatory cells and the glycogen content. Biochemical determination also demonstrated an increase in glycogen concentration, as well as a higher synthesis of glycogen in liver of hyperprolinemic rats. Regarding to hepatic metabolism, it was observed an increase on glucose oxidation and a decrease on lipid synthesis from glucose. However, hepatic lipid content and serum glucose levels were not changed. Proline administration did not alter the aminotransferases activities and serum markers of hepatic injury. Our findings suggest that hyperprolinemia alters the liver homeostasis possibly by induction of a mild degree of oxidative stress and metabolic changes. The hepatic alterations caused by proline probably do not implicate in substantial hepatic tissue damage, but rather demonstrate a process of adaptation of this tissue to oxidative stress. However, the biological significance of these findings requires additional investigation. J. Cell. Biochem. 113: 174183, 2012. (C) 2011 Wiley Periodicals, Inc.

PCBs, PBDEs and organochlorine pesticides in crabs Hepatus pudibundus and Callinectes danae from Santos Bay, State of Sao Paulo, Brazil

The occurrence of persistent organic pollutants (POPS) as polychlorinated biphenyls (PCBs), organochlorine pesticides (OCPs) and polybrominated diphenyl ethers (PBDE) in crabs Hepatus pudibundus and Callinectes danae was assessed from two different places inside of the Santos Bay and Moela Island near one of the most economically important metropolitan areas in Southern Brazil. Among POPs analyzed, Sigma PCBs (222-923 ng g(-1) lipid weight) and Sigma DDTs (154-410 ng g(-1) lw) exhibited the highest concentrations in the crabs. Sigma HCHs ranged from 10.3 to 30.9 ng g(-1), lw and were found in all individuals. Other OCPs found in lower concentration was Mirex (7.6-41.6 ng g(-1) lw) and HCB (5.83-16.9 ng g(-1) lw). Sigma PBDEs (24.1 ng g(-1) lw) were only found in one male individual from the species C. danae collected near to the submarine sewage of Santos. Male crabs showed higher POP concentrations than female crabs for those two species. (C) 2011 Elsevier Ltd. All rights reserved.

First Identification of Culex flavivirus (Flaviviridae) in Brazil

Introduction: Culex flavivirus (CxFV) was first isolated in 2007 from Culex pipiens in Japan and then identified in several other countries. Characterization of the CxFV showed that all strains are related to the cell fusing agent virus. In this manuscript we report the first identification of CxFV in South America. Material and Methods: We have collected Culex sp. mosquitoes using BG-Sentinel traps and manual aspirators. They were pooled according to genus, species, sex and location. Viral RNA was extracted and multiplex nested PCR was performed to test the presence of Flavivirus. The positive samples were isolated in C6/36 cells and sequenced for phylogenetic analyses. Results: 265 female Culex mosquitoes pooled in 83 pools were tested with specific CxFV, Saint Louis encephalitis virus (SLEV) and West Nile virus (WNV) primers. Our sequence data indicated maximum sequence similarity of 97% with CxFV. Discussion: In this study we report the circulation of CxFV in an urban setting where SLEV had previously caused an outbreak. In terms of public health, this is an important finding due to the assumption that the previous exposition of mosquitoes to CxFV might lessen the susceptibility of these mosquitoes to other flaviviruses. Copyright (C) 2012 S. Karger AG, Basel

A comparative transcriptome analysis reveals expression profiles conserved across three Eimeria spp. of domestic fowl and associated with multiple developmental stages

Coccidiosis of the domestic fowl is a worldwide disease caused by seven species of protozoan parasites of the genus Eimeria. The genome of the model species, Eimeria tenella, presents a complexity of 55-60 MB distributed in 14 chromosomes. Relatively few studies have been undertaken to unravel the complexity of the transcriptome of Eimeria parasites. We report here the generation of more than 45,000 open reading frame expressed sequence tag (ORESTES) cDNA reads of E. tenella, Eimeria maxima and Eimeria acervulina, covering several developmental stages: unsporulated oocysts, sporoblastic oocysts, sporulated oocysts, sporozoites and second generation merozoites. All reads were assembled to constitute gene indices and submitted to a comprehensive functional annotation pipeline. In the case of E. tenella, we also incorporated publicly available ESTs to generate an integrated body of information. Orthology analyses have identified genes conserved across different apicomplexan parasites, as well as genes restricted to the genus Eimeria. Digital expression profiles obtained from ORESTES/EST countings, submitted to clustering analyses, revealed a high conservation pattern across the three Eimeria spp. Distance trees showed that unsporulated and sporoblastic oocysts constitute a distinct clade in all species, with sporulated oocysts forming a more external branch. This latter stage also shows a close relationship with sporozoites, whereas first and second generation merozoites are more closely related to each other than to sporozoites. The profiles were unambiguously associated with the distinct developmental stages and strongly correlated with the order of the stages in the parasite life cycle. Finally, we present The Eimeria Transcript Database (http://www.coccidia.icb.usp.br/eimeriatdb), a website that provides open access to all sequencing data, annotation and comparative analysis. We expect this repository to represent a useful resource to the Eimeria scientific community, helping to define potential candidates for the development of new strategies to control coccidiosis of the domestic fowl. (C) 2011 Australian Society for Parasitology Inc. Published by Elsevier Ltd. All rights reserved.

A Recombinant Protein Based on Trypanosoma cruzi P21 Enhances Phagocytosis

Background: P21 is a secreted protein expressed in all developmental stages of Trypanosoma cruzi. The aim of this study was to determine the effect of the recombinant protein based on P21 (P21-His(6)) on inflammatory macrophages during phagocytosis. Findings: Our results showed that P21-His(6) acts as a phagocytosis inducer by binding to CXCR4 chemokine receptor and activating actin polymerization in a way dependent on the PI3-kinase signaling pathway. Conclusions: Thus, our results shed light on the notion that native P21 is a component related to T. cruzi evasion from the immune response and that CXCR4 may be involved in phagocytosis. P21-His(6) represents an important experimental control tool to study phagocytosis signaling pathways of different intracellular parasites and particles.

COMT Met (158) modulates facial emotion recognition in bipolar I disorder mood episodes

Background: One of the many cognitive deficits reported in bipolar disorder (BD) patients is facial emotion recognition (FER), which has recently been associated with dopaminergic catabolism. Catechol-O-methyltransferase (COMT) is one of the main enzymes involved in the metabolic degradation of dopamine (DA) in the prefrontal cortex (PFC). The COMT gene polymorphism rs4680 (Val(158)Met) Met allele is associated with decreased activity of this enzyme in healthy controls. The objective of this study was to evaluate the influence of Val(158)Met on FER during manic and depressive episodes in BD patients and in healthy controls. Materials and methods: 64 BD type I patients (39 in manic and 25 in depressive episodes) and 75 healthy controls were genotyped for COMT rs4680 and assessed for FER using the Ekman 60 Faces (EK60) and Emotion Hexagon (Hx) tests. Results: Bipolar manic patients carrying the Met allele recognized fewer surprised faces, while depressed patients with the Met allele recognized fewer "angry" and "happy" faces. Healthy homozygous subjects with the Met allele had higher FER scores on the Hx total score, as well as on "disgust" and "angry" faces than other genotypes. Conclusion: This is the first study suggesting that COMT rs4680 modulates FER differently during BD episodes and in healthy controls. This provides evidence that PFC DA is part of the neurobiological mechanisms of social cognition. Further studies on other COMT polymorphisms that include euthymic BD patients are warranted. ClinicalTrials.gov Identifier: NCT00969. (C) 2011 Elsevier B.V. All rights reserved.

Macroalgal composition and its association with local hydrodynamics in the Laje de Santos Marine State Park, southwestern Atlantic, São Paulo, Brazil

The Laje de Santos Marine State Park (LSMSP), located in southeastern Brazil, is the only marine park in Sao Paulo State. This conservation unit has been established as a protected area of high biological diversity. Despite its importance for the conservation of the marine biota, little is known about the park's seaweed flora. The objectives of this study were as follows: to furnish increased knowledge of the composition of the macroalgae in the Park area; to relate the area's macroalgal composition to the presence of an important water mass in the region, the South Atlantic Central Water (SACW); and to investigate the possible influence of the Port of Santos on the composition of the macroalgae of the LSMSP. This study registered 31 new records for the LSMSP, 11 for Sao Paulo State, four for Brazil, one for the western Atlantic and one for the South Atlantic Ocean, in addition to the possible occurrence of one new species of Osmundea (Rhodomelaceae) and one new genus belonging to Ceramiaceae. The taxonomic composition of the macroalgae had a direct correlation with the arrival of the SACW in the summer-fall season. The SACW generated a strong thermocline and increased the supply of nutrients in the water column. Hydrodynamic and dispersion modeling analyses suggested that the Port of Santos influenced the composition of the LSMSP phycoflora.

ADOLESCENCE AND DRUG USE THROUGH THE LENS OF PSYCHOANALYSIS: SUFFERING AND ECSTASY IN THE PASSAGE

ADOLESCENCE AND DRUG USE THROUGH THE LENS OF PSYCHOANALYSIS: SUFFERING AND ECSTASY IN THE PASSAGE The purpose of this study is to reflect upon the psychological factors of adolescent drug addiction according to a psychoanalytic perspective. First we consider adolescence as a social-historical category and then we discuss the psychoanalytic understanding of the adolescent transition. This theoretical path builds the approach that considers drug use as a phenomenon that serves as a passage ritual to contemporary adolescence. This phenomenon is modulated by the drive organization, which determines how the individual will take ownership of the use of psychoactive substances. We conclude that the substance use may function as a buffer-object, activated to deal with the structural fragility of the contemporary affective bonds.

Taxonomic and distributional notes on Telebasis Selys, 1865, with a redescription of T. pallida Machado, 2010, and an evaluation of the T. racenisi Bick & Bick, 1995 "complex" of species (Odonata, Coenagrionidae)

A full checklist of the species of Telebasis Selys, 1865, housed in the Brazilian collections Colecao Entomologica Prof. Jose Alfredo Pinheiro Dutra, Departamento de Zoologia, Instituto de Biologia, Universidade Federal do Rio do Janeiro (DZRJ), and Museu de Zoologia, Universidade de Sao Paulo (MZSP) is presented. A total of 325 specimens representing 19 species were studied. Ten new records for Brazilian States were found for T. carmesina Calvert, 1909 (Rio de Janeiro and Rio Grande do Sul), T. corallina (Selys, 1876) (Pernambuco), T. demarara (Williamson, 1917) (Maranhao), T. filiola (Perty, 1834) (Paraiba and Santa Catarina), T. gigantea Daigle, 2002 (Sao Paulo), T. inalata (Calvert, 1961) (Mato Grosso do Sul), T. pallida Machado, 2010 (Goias) and T. obsoleta (Selys, 1876) (Mato Grosso do Sul), as well as a new record of T. carminita Calvert, 1909 for Suriname. Telebasis pallida Machado, 2010 is redescribed and diagnosed based on 14 males collected near the type locality, and its genital ligula is described and illustrated for the first time. Furthermore, the status of the three species of the Telebasis racenisi Bick & Bick, 1995 complex is evaluated. Of these, Telebasis pareci Machado, 2010 syn. n. is proposed as junior subjective synonym of Telebasis lenkoi Machado, 2010, and a possible synonymy among the three species is discussed under T. racenisi. ((c) 2012 WILEY-VCH Verlag GmbH & Co. KGaA, Weinheim)

Analysis of slow- and fast-alpha band asymmetry during performance of a saccadic eye movement task: Dissociation between memory- and attention-driven systems

This study aimed at analyzing the relationship between slow- and fast-alpha asymmetry within frontal cortex and the planning, execution and voluntary control of saccadic eye movements (SEM), and quantitative electroencephalography (qEEG) was recorded using a 20-channel EEG system in 12 healthy participants performing a fixed (i.e., memory-driven) and a random SEM (i.e., stimulus-driven) condition. We find main effects for SEM condition in slow- and fast-alpha asymmetry at electrodes F3-F4, which are located over premotor cortex, specifically a negative asymmetry between conditions. When analyzing electrodes F7-F8, which are located over prefrontal cortex, we found a main effect for condition in slow-alpha asymmetry, particularly a positive asymmetry between conditions. In conclusion, the present approach supports the association of slow- and fast-alpha bands with the planning and preparation of SEM, and the specific role of these sub-bands for both, the attention network and the coordination and integration of sensory information with a (oculo)-motor response. (C) 2011 Elsevier B.V. All rights reserved.

A new species of Novantinoe Santos-Silva & Hovore 2007 from Panama (Coleoptera: Disteniidae)

A new species of Novantinoe Santos-Silva & Hovore 2007 is described from Panama. Modified key couplets including the new species are included.

Are patients with encephalocraniocutaneous lipomatosis at increased risk of developing low-grade gliomas?

Cancer-prone genetic disorders are responsible for brain tumors in a considerable proportion of children. Additionally, rare genetic syndromes associated to cancer development may potentially disclose genetic mechanisms related to oncogenesis. We describe two pediatric patients with encephalocraniocutaneous lipomatosis (ECCL), a very rare genetic syndrome with around 60 reported cases, which developed low-grade astrocytoma at 3 and 12 years of age. Patients with ECCL seem to be at risk of benign forms of osseous tumors such as ossifying fibromas, odontomas, and osteomas. The association between brain tumor and ECCL was previously reported only once, in a pediatric case of a mixed neuronal-glial histology. Whether ECCL may be a genetic condition of predisposing brain tumor in children strongly needs to be addressed.

Superconductivity and magnetism in the KxMoO2-delta

Coexistence between superconductivity and magnetism is reported for the KxMoO2-delta samples. Photoemission experiments show that the presence of Mo3+ ions is responsible for the weak ferromagnetic ordering observed in the KxMoO2-delta samples. Magnetic ordering temperature and superconducting critical temperature (T-C) ratio range from 7 to 18 in this compound. These are the highest ratios reported so far for a magnetic superconductor. T-C decreases with increasing potassium composition (x). For the first time, T-C near 10 K is reported in the K-Mo-O system. (C) 2012 American Institute of Physics. [http://dx.doi.org/10.1063/1.4757003]

Evidence of contamination by oil and oil products in the Santos-São Vicente estuary, São Paulo, Brazil

Different components of the mixed function oxidase (MFO) system and the levels of fluorescent aromatic compounds in bile (FACs) were measured in Cathorops spixii in order to assess the impact of polycyclic aromatic hydrocarbons (PAHs). Fish were sampled in an estuary (Santos/Sao Vicente) with a history of contamination by PAHs, mainly due to the presence of the industrial complex of Cubatao city and of another of low anthropogenic influence (Cananeia) on the Brazilian coast. FACs were higher in fish from the polluted site, and the PAH 5 and 6-ring metabolites were the most frequent - with 14% and 15%, respectively. Levels of the different components of the MFO system showed the same variation profile as the FACs for both estuaries. Therefore, the values found for somatic indexes and biomarkers with data of bile PAH metabolites indicate the presence of organic contaminants, especially in the area subject to the influence of the industrial complex on the Santos/Sao Vicente estuary.