Identification of a Microdeletion at the 7q33-q35 Disrupting the CNTNAP2 Gene in a Brazilian Stuttering Case

Speech and language disorders are some of the most common referral reasons to child development centers accounting for approximately 40% of cases. Stuttering is a disorder in which involuntary repetition, prolongation, or cessation of the sound precludes the flow of speech. About 5% of individuals in the general population have a stuttering problem, and about 80% of the affected children recover naturally. The causal factors of stuttering remain uncertain in most cases; studies suggest that genetic factors are responsible for 70% of the variance in liability for stuttering, whereas the remaining 30% is due to environmental effects supporting a complex cause of the disorder. The use of high-resolution genome wide array comparative genomic hybridization has proven to be a powerful strategy to narrow down candidate regions for complex disorders. We report on a case with a complex set of speech and language difficulties including stuttering who presented with a 10Mb deletion of chromosome region 7q33-35 causing the deletion of several genes and the disruption of CNTNAP2 by deleting the first three exons of the gene. CNTNAP2 is known to be involved in the cause of language and speech disorders and autism spectrum disorder and is in the same pathway as FOXP2, another important language gene, which makes it a candidate gene for causal studies speech and language disorders such as stuttering. (C) 2010 Wiley-Liss, Inc.

Morphology and bacterial colonisation of tooth/ceramic restoration interface after different cement excess removal techniques

Objectives: To evaluate the influence of different protocols for resin cement removal during cementation on biofilm formation.Methods: Twenty-eight ceramic blocks, which were injected under pressure, were placed over enamel blocks obtained from freshly extracted bovine incisors. The ceramic blocks were cemented to the enamel blocks using a dual-cured resin cement and the excess resin was removed according to the experimental group: TS: Teflon spatula; BR: brush; BR+: brush and polishing; SB+: scalpel blade and polishing. After autoclaving, the samples were colonised by incubation in a sucrose broth suspension standardised with Streptococcus mutans in microaerophilic stove. Specimens were quantitatively analysed for bacterial adherence at the adhesive interface using confocal laser scanning microscopy and counting the colony forming units, and qualitatively analysed using SEM. The roughness (Ra/Rz/RSm) was also analysed. Data were analysed by 1-way ANOVA and Tukey's test (5%).Results: The roughness values ranged from 0.96 to 1.69 mu m for Ra (p > 0.05), from 11.59 to 22.80 mu m for Rz (p = 0.02 < 0.05) and from 293.2 to 534.3 mu m for RSm (p = 0.00). Bacterial adhesion varied between 1,974,000 and 2,814,000 CFU/ml (p = 0.00). Biofilm mean thickness ranged from 0.477 and 0.556 mu m (p > 0.05), whilst the biovolume values were between 0.388 and 0.547 mu m(3)/mu m(2) (p = 0.04). Lower values for roughness, bacterial adhesion, biofilm thickness and biovolume were found with BR, whilst TS presented the highest values for most of the parameters. SEM images confirmed the quantitative values.Conclusions: The restoration margin morphology and interface roughness affects bacterial accumulation. The brush technique promoted less bacterial colonisation at the adhesive interface than did the other removal methods.Clinical significance: The brush technique seems to be a good option for removing the excess resin cement after adhesive cementation in clinical practice, as indicated by its better results with lower bacterial colonisation. (C) 2012 Elsevier Ltd. All rights reserved.

Relações solo-paisagem em topossequência de origem basáltica

Variações nos atributos do solo dependem da posição do solo na paisagem e processos de drenagem, erosão e deposição. Este estudo objetivou avaliar os atributos físicos e químicos do solo, em uma topossequência de origem basáltica, na região de Batatais (SP). A área possui relevo aplanado e altitude oscilando entre 740 m e 610 m, em região dominada por basaltos. Foi estabelecido caminhamento de 3.000 m, a partir do espigão da vertente, no seu declive mais suave. As superfícies geomórficas foram identificadas e delimitadas conforme critérios topográficos e estratigráficos, com base em intensas investigações detalhadas de campo. Foram coletadas amostras laterais aos perfis modais representativos das diversas superfícies geomórficas (S.G.) da topossequência (S.G. I = topo; S.G. II = meia encosta e sopé de transporte; S.G. III = ombro e sopé de deposição), totalizando 142 amostras. Além disto, foram abertas trincheiras, nos segmentos de vertente inseridos nas superfícies geomórficas mapeadas. As amostras coletadas foram analisadas quanto à densidade do solo, textura, bases trocáveis (Ca2+, K+ e Mg2+), soma de bases, capacidade de troca catiônica, saturação por bases, pH (água e KCl), SiO2, Al2O3, Fe2O3 (ataque por H2SO4), óxidos de Fe livres extraídos com ditionito-citrato-bicarbonato e Fe mal cristalizado extraído com oxalato de amônio. Os resultados revelaram que os solos oriundos de basalto apresentaram atributos físicos e químicos com comportamento dependente das formas do relevo. Com o uso de técnicas estatísticas multivariadas, foi possível distinguir três diferentes ambientes, que equivalem às três superfícies geomórficas.

Macrossomia e habilidades auditivas: estudo comparativo

TEMA:macrossomia é o desvio positivo dos padrões de crescimento normal. OBJETIVO: devido à escassez de estudos das habilidades auditivas nas síndromes macrossômicas, este trabalho objetivou verificar e comparar o desempenho auditivo de dois pacientes e correlacioná-los aos achados complementares. MÉTODO: anamnese, avaliação audiológica, de linguagem, psicológica e de neuroimagem em dois sujeitos do gênero feminino, de oito e dezessete anos. RESULTADOS: sujeito I - normal, sujeito II - alterado. CONCLUSÃO: há uma crescente necessidade em investigar a neurofisiologia da audição nessa população, visto que estudos fonoaudiológicos poderiam propiciar o diagnóstico precoce, favorecendo o processo de intervenção.

Cursos de geologia: expansão, interiorização e consolidação do ensino de geologia no brasil

A short time after the creation of the first Geology courses in Brazil (in 1957 with the pioneers in the University of São Paulo and in the Federal Universities of Ouro Preto, Pernambuco and Rio Grande do Sul, and then in the following year in the Federal Universities of Bahia and Rio de Janeiro), there arose other initiatives that spread almost twenty Geology courses throughout Brazil. In addition to expanding the Geology teaching in the South, Southeast and Northeast regions, these initiatives succeeded in allowing access to geological education for the population in the North and Central-west of Brazil. In the 1960s, the courses in the Federal University of Para in Belém (1964), University of Brasilia (1965) and São Paulo State University in Rio Claro (1969) were implanted. In the following decade, the courses in the Federal Rural University of Rio de Janeiro in Seropédica (1970), the Federal University of Ceará in Fortaleza (1970), the University of Rio dos Sinos in São Leopoldo (1973), the Federal University of Paraná in Curitiba (1973), the Federal University of Minas Gerais in Belo Horizonte (1973), the Federal University of Amazonas in Manaus (1976), the Federal University of Mato Grosso in Cuiabá (1976), the Federal University of Rio Grande do Norte in Natal (1976), and the State University of Rio de Janeiro in Rio de Janeiro (1977) were all created. At the close of the twentieth century, the course was implanted in the State University of Campinas (1998). Now, at the beginning of the twenty-first century, new Geology courses are being implanted, accentuating the movement inland of Geology teaching in Brazil. The Federal University of Pará began a new course in its campus in Marabá in the south-east of Pará and the Federal University of Bahia implanted a new course in its campus in Barreiras in the west of Bahia. Finally, the Federal Universities of Sergipe, Espírito Santo and Roraima commenced Geology courses in Aracaju, Alegre and Boa Vista, respectively. This chapter will present the synthesis of the Geology courses which, over the last decades of the twentieth century, contributed to the expansion of Geology teaching in the country, taking it to every region and giving opportunities to a large number of Brazilian citizens to realize their dreams and tread the paths of their professional vocation.

Bothrops leucurus venom induces nephrotoxicity in the isolated perfused kidney and cultured renal tubular epithelia

Bites from snake (Bothrops genus) cause local tissue damage and systemic complications, which include alterations such as hemostatic system and acute renal failure (ARF). Recent studies suggest that ARF pathogenesis in snakebite envenomation is multifactorial and involves hemodynamic disturbances, immunologic reactions and direct nephrotoxicity. The aim of the work was to investigate the effects of the Bothrops leucurus venom (BlV) in the renal perfusion system and in cultured renal tubular cells of the type MDCK (Madin-Darby Canine kidney). BlV (10 μg/mL) reduced the perfusion pressure at 90 and 120 min. The renal vascular resistance (RVR) decreased at 120 min of perfusion. The effect on urinary flow (UF) and glomerular filtration rate (GFR) started 30 min after BlV infusion, was transient and returned to normal at 120 min of perfusion. It was also observed a decrease on percentual tubular transport of sodium (%TNa+) at 120 min and of chloride (%TCl-) at 60 and 90 min. The treatment with BlV caused decrease in cell viability to the lowest concentration tested with an IC50 of 1.25 μg/mL. Flow cytometry with annexin V and propidium iodide showed that cell death occurred predominantly by necrosis. However, a cell death process may involve apoptosis in lower concentrations. BlV treatment (1.25 μg/mL) led to significant depolarization of the mitochondrial membrane potential and, indeed, we found an increase in the expression of cell death genes in the lower concentrations tested. The venom also evoked an increase in the cytosolic Ca2+ in a concentration dependent manner, indicating that Ca2+ may participate in the venom of B. leucurus effect. The characterization of the effects in the isolated kidney and renal tubular cells gives strong evidences that the acute renal failure induced by this venom is a result of the direct nephrotoxicity which may involve the cell death mechanism. © 2012.

Caracterização química e mineralógica de azulejos portugueses do centro histórico de São Luís-MA (Brasil): Uma aproximação à mineralogia e à temperatura de queima das matérias-primas

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Latitudinal gradients in intraspecific ecological diversity

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

Frontonasal dysplasia: clinical evaluation on audiological and brainstem electrophysiological profiles

Frontonasal dysplasia (FND) is a rare malformative complex affecting the frontal portion of the face, the eyes and the nose; it may occur singly or associated with other clinical signs. No systematic studies describing hearing in this condition were found. AIM: To evaluate hearing sensitivity and sound stimulus conduction from cochlea to brainstem in patients with clinical signs of FND. METHODS: 21 patients with isolated or syndromic FND were submitted to a clinical (otological/vestibular antecedents and otoscopy) and instrumental (pure tone and speech audiometry, tympanometry and brainstem auditory evoked response) hearing evaluation. DESIGN: A clinical, cross-sectional observational prospective study. RESULTS: Hearing thresholds were normal in 15 (70%) patients, abnormal in 5 (25%), mostly with conductive hearing loss; one patient did not cooperate with testing. The tympanometric curve was type A in 30 (72%) ears, type C in 5 (12%), type As in 4 (9%) and type B in 3 (7%). The auditory brainstem response (ABR) showed no abnormalities. CONCLUSION: Patients with FND showed no abnormalities in the auditory system from cochlea to brainstem in this study. Mild conductive hearing loss found in some is probably related to cleft palate. Further evaluation of hearing pathways at higher levels is recommended.

Comportamentos de coping no contexto da hospitalização infantil

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Fishes from Baía da Medalha, southern Pantanal, Brazil: A 20 years review

Located in the Pantanal of Miranda-Abobral, the Baía da Medalha is the largest pond close to the Base de Estudos do Pantanal of the Universidade Federal de Mato Grosso do Sul. The Baía da Medalha has been a study site for several didactic and scientific projects for years. Nevertheless, its fish fauna has never been inventoried. Based on data collected from the beginning of the 1990s up to 2011, we provide a list of fish species from the Baía da Medalha. A total of 97 species were recorded, corresponding to about 40% of the species stated for the Pantanal. Characiformes and Siluriformes were the most species-rich orders, being Characidae and Cichlidae the families with the highest number of species. Regional seasonal flood dynamics and the abundance of aquatic macrophytes may be associated with this high diversity. The representative richness found in this lagoon highlights the importance of such taxonomic surveys to preserve the diversity of aquatic habitats within the Pantanal ecosystem.

Removal of clay by stingless bees: load size and moisture selection

Some organisms disperse energy, associated with the transportation of resource, which is not necessarily food. Stingless bees of Central Amazonia (Melipona flavolineata and M. lateralis) collect clay in banks along streams for nest building. The moisture of the clay varies along the bank, and bees collect clay from specific location, indicating that there is some sort of preference regarding their selection. This study aims at identifying: if larger bees carry more clay; if there is a preference for moisture of substrates; and if bees are less efficient accumulating and transporting clay when it is wet. In order to do so, I measured the size of the bees and of the pellets of clay found in the corbicula. I set up a field experiment to test substrate preferences. The amount of clay transported, increased exponentially in accordance to the size of the bee, and the preferred substrate was the driest clay. The amount and the efficiency of removal of clay were not affected by the moisture of the substrate. Despite the wet clay being denser, it does not reduce the efficiency of exploitation of the resource, but suggests that bees spend more energy to carry the same quantity of wet clay, which may be the underlying mechanism explaining their preference for removing drier clay.