Características clínicas, comportamentais, cognitivas e comunicativa na síndrome Smith-Magenis

TEMA: o objetivo deste estudo foi descrever os aspectos clínico, comportamental, cognitivo e comunicativo de indivíduos com o diagnóstico genético da Síndrome Smith-Magenis. PROCEDIMENTOS: participaram dois indivíduos do sexo masculino, de nove e 19 anos. Realizou-se a avaliação genética clínica e laboratorial (teste FISH, utilizando sonda para região 17p11.2). A avaliação psicológica constou da observação comportamental e aplicação da Escala Wechsler de Inteligência. A avaliação Fonoaudiológica foi realizada por meio de procedimentos formais e informais e avaliação auditiva periférica. RESULTADOS: a análise genética clínica evidenciou as características fenotípicas da síndrome Smith-Magenis, confirmada pela avaliação laboratorial. A avaliação psicológica evidenciou o fenótipo comportamental peculiar da síndrome Smith-Magenis e comprovou a deficiência intelectual de grau moderado nos dois indivíduos. A avaliação fonoaudiológica mostrou alterações no desempenho linguístico, com alterações nos níveis fonológico, semântico, sintático e pragmático e nas habilidades psicolinguísticas, interferindo nas habilidades comunicativas e de aprendizagem. A avaliação auditiva indicou audição periférica dentro de parâmetros de normalidade. CONCLUSÃO: a avaliação multidisciplinar favoreceu a descrição dos aspectos clínicos, comportamentais, cognitivos que pertencem ao fenótipo comportamental da síndrome Smith-Magenis e permitiu verificar que estes apresentam graves alterações da linguagem oral, das habilidades psicolinguísticas e do processamento das informações visuais e auditivas com reflexos marcantes no desenvolvimento das habilidades comunicativas e processos de aprendizagem.

Mitochondrial DNA polymorphism and heteroplasmy in populations of Aedes aegypti in Brazil

The tropical mosquito Aedes aegypti (Diptera: Culicidae) is the most important domestic vector of urban yellow fever and dengue viruses. Ae. aegypti originated from Africa and was probably introduced into Brazil during the colonial period through embarkations, and dengue epidemics soon followed. Genetic analysis of 12 Ae. aegypti populations from five states in Brazil was conducted based on two mitochondrial DNA fragments: cytochrome oxidase I and NADH dehydrogenase subunit 4. Analyses comparing individual haplotypes indicated the existence of two well-defined clades, probably representing two mitochondrial lineages. Analysis of molecular variance showed significant variability in genetic structure among collections within groups. Mantel regression analysis showed a correlation between genetic and geographic distances, mainly because of northern and northeastern populations, in comparison with those in the southeast. The population from Santos, the largest port in Brazil, showed the greatest diversity, with 10 unique haplotypes, an indication of recent introductions that have not yet spread to other Brazilian cities. Different mitochondrial DNA sequences were found in three specimens, indicating the presence of heteroplasmy.

The Effects of a 785-nm AlGaInP Laser on the Regeneration of Rat Anterior Tibialis Muscle After Surgically-Induced Injury

Objective: This study aims to investigate the effects of low-level laser therapy (LLLT) on muscle regeneration. For this purpose, the anterior tibialis muscle of 48 male Wistar rats received AlGaInP laser treatment (785 nm) after surgically-induced injury.Background Data: Few studies have been conducted on the effects of LLLT on muscle regeneration at different irradiation doses.Materials and Methods: The animals were randomized into four groups: uninjured rats (UN); uninjured and laser-irradiated rats (ULI); injured rats (IN); and injured and laser-irradiated rats (ILI). The direct contact laser treatment was started 24 h after surgery. An AlGaInP diode laser emitting 75 mW of continuous power at 785 nm was used for irradiation. The laser probe was placed at three treatment points to deliver 0.9 J per point, for a total dose of 2.7 J per treatment session. The animals were euthanized after treatment sessions 1, 2, and 4. Mounted sections were stained with hematoxylin and eosin and used for quantitative morphological analysis, in which the number of leukocytes and fibroblasts were counted over an area of 4480 mu m(2). The data were statistically analyzed by analysis of variance (ANOVA) and the Bonferroni t-test.Results: Quantitative data showed that the number of both polymorphonuclear and mononuclear leukocytes in the inflammatory infiltrate at the injury site was smaller in the ILI(1), ILI(2), and ILI(4) subgroups compared with their respective control subgroups (IN(1), IN(2), and IN(4)) for sessions 1, 2, and 4, respectively (p < 0.05). on the other hand, the number of fibroblasts increased after the fourth treatment session (p < 0.05). With regard to the regeneration of muscle fibers following injury, only after the fourth treatment session was it possible to find muscle precursor cells such as myoblasts and some myotubes in the ILI(4) subgroup.Conclusion: During the acute inflammatory phase, the AlGaInP laser treatment was found to have anti-inflammatory effects, reducing the number of leukocytes at the injury site and accelerating the regeneration of connective tissue.

Twelve polymorphic microsatellite loci developed and optimized from the Leptodactylus chaquensis

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

Ferric iron uptake genes are differentially expressed in the presence of copper sulfides in Acidithiobacillus ferrooxidans strain LR

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Crystal Structure Determination of Mebendazole Form A Using High-Resolution Synchrotron X-Ray Powder Diffraction Data

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

Molecular epidemiology and evolution of avian infectious bronchitis virus

Mutation and recombination processes are involved in the genetic and phenotypic variations of RNA viruses, leading to the emergence of new variant strains, and give rise to virus population diversity to be modeled by the host, particularly by the immune system, as occurred with infectious bronchitis virus (IBV) in chickens. The consequence is a continuous emergence of new IBV variants with regard to pathotypes, serotypes, and protectotypes. Nucleotide sequencing and subsequent genetic analysis of the S1 and N protein gene sequences provide a fast and accurate method to classify and predict IBV genotype, and a powerful instrument to monitor phylogenetic and epidemiological evolution of IBV variants. Despite the use of vaccination programmes, infectious bronchitis has become a serious problem in Brazil. Thus, a significant number of IBV field variants have been identified circulating in the Brazilian commercial poultries between 2000 to 2006 and more recently in Argentina. These viruses seem to be indigenous, because they demonstrated a low genetic relatedness with the majority of the reference strains from North America, Europe and Asia, but were moderately to highly related one to another. In summary, indigenous field IBV variants were evolving and circulating in the field in Brazil and Argentina, and should be considered as initial candidates for protection against current IBV infectious in chickens. However, in vitro and in vivo studies are needed to determine the pathogenicity and immunogenecity of these new isolates, before defining a new vaccine strain.

Variabilidade espacial e controle estatístico do processo de perdas na colheita mecanizada do algodoeiro

Dentro do processo produtivo, a colheita, se mal conduzida, poderá causar prejuízos quali-quantitativos no produto final. Dessa forma, esse trabalho teve o objetivo de avaliar as perdas quantitativas, no solo e na planta, na colheita mecanizada de algodão, no ano agrícola de 2006, em Ipameri-GO, em um talhão de 1,4 ha, sendo georreferenciados 41 pontos, distanciados de 50 m no sentido da curva de nível e 9 m entre fileiras. As amostras foram coletadas colocando-se uma armação de 4,5 m² sobre o solo, coletando todo o algodão caído no solo e, em seguida, fez-se a coleta do algodão que permaneceu na planta após a passagem da colhedora. Além das perdas quantitativas determinaram-se o teor médio de água do algodão e o Rendimento Potencial Máximo (RPM). Foram construídas cartas de controle para verificar a qualidade da operação de colheita. Observou-se que as perdas na colheita do algodão foram altas, principalmente as perdas no solo (PS), indicando que a colhedora não apresentou boa eficiência de colheita. As perdas no solo não apresentaram dependência espacial, enquanto as perdas na planta e totais apresentaram dependência moderada e forte, respectivamente. O processo de colheita de algodão não se encontra dentro dos padrões de qualidade, sob o ponto de vista de controle estatístico de processo, devendo ser revistas as condições de colheita.

Peso adulto de matrizes em rebanhos de seleção da raça Nelore no Brasil

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Physiological and genomic variations in rice cells recovered from direct immersion and storage in liquid nitrogen

The use of cryoprotectants and slow cooling rates are routine procedures for the cryopreservation of plant cell lines. However, our results with rice (Oryza sativa L,, ev. Taipei 309) show that calli can be cryopreserved by direct immersion and stored in liquid nitrogen without any cryoprotection, the efficiency of recovery using this method, as well as a conventional method was generally increased with a previous abscisic acid (ABA) treatment. Following cryopreservation, calli demonstrated some differences with respect to unfrozen calli of the same lines, Thus, resistance to freezing stress (- 20 degrees C for 2 h) increased significantly in all lines tested, irrespective of their pre-incubation with ABA, Calli that had been directly stored in liquid nitrogen also demonstrated a higher competence for genetic transformation than their unfrozen counterparts, as indicated by the transient gene expression levels obtained after particle bombardment, These differences might lead to further biotechnological applications, A genetic analysis of amplified DNA polymorphisms was performed with three independent lines that had been subjected to four combinations of ABA treatment and direct immersion in liquid nitrogen, At the loci screened with the randomly amplified polymorphic DNA (RAPD) markers tested, the genetic variations among lines and among calli of the same line appear to bd more related to tissue-culture-induced somaclonal variation than to cryoselection.

Comparison between wound healing in induced diabetic and nondiabetic rats after low-level laser therapy

Objective: the aim of this work was to compare the effect of low-level laser therapy (LLLT) on the wound healing process in nondiabetic and diabetic rats. Background Data: Among the clinical symptoms caused by diabetes mellitus, a delay in wound healing is a potential risk for patients. It is suggested that LLLT can improve wound healing. Methods: the tissue used for this study was extracted from animals suffering from diabetes, which was induced by Streptozotocin (R), and from nondiabetic rats. Animals were assembled into two groups of 25 rats each (treated and control) and further subdivided into two groups: diabetic (n = 15) and nondiabetic (n = 10). A full-thickness skin wound was made on the dorsum. area, with a round 8-mm hole-punch. The treated group was irradiated by a HeNe laser at 632.8 nm, with the following parameters: 15 mW, exposition time of 17 sec, 0.025 cm(2) irradiated area, and energy density of 10 J/cm(2). Square full-thickness skin samples (18 mm each side, including both injured and noninjured tissues) were obtained at 4, 7, and 15 days after surgery and analyzed by qualitative and quantitative histological methods. Results: Quantitative histopathological analysis confirmed the results of the qualitative analysis through histological microscope slides. When comparing tissue components (inflammatory cells, vessels and fibroblast/area), we found that treated animals had a less intense inflammatory process than controls. Conclusion: Results obtained by both qualitative and quantitative analyses suggested that irradiation of rats with HeNe (632.8 nm), at the tested dose, promoted efficient wound healing in both nondiabetic and diabetic rats as, compared to the control group.

Effect of PbO excess on the formation of lead magnesium niobate perovskite by the columbite method

The effect of lead excess on the pyrochlore-type formation in Pb(Mg1/3Nb2/3)O-3 (PMN) powders has been investigated. The polymeric precursor method was used in the synthesis of the columbite in association to the partial oxalate method to synthesize the PMN powder samples. Structure refinement of the columbite precursor and PMN powders was carried out using the Rietveld method. The quantitative phase analysis showed that the amount of perovskite phase is not affected by PbO excess, but a great excess drives the pyrochlore-type formation so that 3 wt.% of PbO causes the predominance of Mg-containing pyrochlore phase. Using the refined data obtained from the Rietveld refinement, the compositional fluctuation in the perovskite phase was calculated from Nb/Mg ratio values and Pb occupation factor. Mg inclusion occurs concomitant with Ph one into PMN perovskite phase and this effect is directed by PbO excess during powder synthesis. (C) 2003 Elsevier B.V. All rights reserved.

The effects of ZnGa2O4 formation on structural and optical properties of ZnO : Ga powders

Gallium-doped zinc oxide (ZnO:Ga 1, 2 3, 4 and 5 at%) samples were prepared in powder form by modifying the Pechini method. The formation of zinc gallate (ZnGa2O4) With the spinel crystal structure was observed even in ZnO:Ga 1 at% by X-ray diffraction. The presence of ZnGa2O4 in ZnO:Ga samples was also evidenced by luminescence spectroscopy through its blue emission at 430 nm, assigned to charge transfer between Ga3+ at regular octahedral symmetry and its surrounding O2- ions. The amount of ZnGa2O4 increases as the dopant concentration increases, as observed by the quantitative phase analysis by the Rietveld method. (C) 2006 Elsevier B.V. All rights reserved.

Clonal relationship among invasive and non-invasive strains of enteroinvasive Escherichia coli serogroups

The genetic relatedness among 96 invasive Escherichia coli belonging to several serogroups and 13 non-invasive of several serotypes that share the same O antigen was investigated by multilocus enzyme electrophoresis analysis. The invasive strains were isolated in different parts of the world and most of them recovered from dysentery. Twenty-nine electrophoretic types were distinguished and the most invasive strains were found to belong to two major lineages. These results suggested that the invasive ability in these strains has evolved in divergent chromosomal backgrounds, presumably through the horizontal spread of plasmid-borne invasion genes. The maintenance of invasive phenotypes in separate lineages suggests that this ability confers a selective advantage to invasive strains. Copyright (C) 1999 Federation of European Microbiological Societies.