Smith-Lemli-Opitz syndrome: clinical and biochemical findings in Brazilian patients

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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.

Smith-Magenis syndrome: clinical evaluation in seven Brazilian patients

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Qualidade dos méis produzidos por Melipona fasciculata Smith da região do cerrado maranhense

The honey of Melipona fasciculata is few known in terms of composition, and therefore generally associated with the characteristics of the honey of Apis mellifera. This study contributes to the knowledge of the physico-chemical characteristics of honey of M. fasciculata of the municipalities of Barra do Corda, Jenipapo dos Vieiras, Fernando Falcão, Carolina and Riachão, in cerrado region from Maranhão. The parameters studied were: moisture, pH, acidity, reducing sugars, apparent sucrose, hydroxymethylfurfural, diastase activity, insoluble solids, ash and color. Some of the observed patterns may conform to the established for A. mellifera, but others must be accompanied by a specific legislation.

The reproductive cycle of Callinectes danae Smith, 1869 (Decapoda, Portunidae) in the Ubatuba Region, Brazil

Callinectes danae Smith, 1869, known as siri-azul, is an important fishery resource along the Brazilian coast. The reproductive cycle of this species was studied based on their moult cycle and the development of their gonads. The animals were collected with an otter-trawl in the Ubatuba region (23 degrees 26'S 45 degrees 02'W) every other month from July 1991 to May 1993. A total of 1826 specimens were captured: 788 males and 1038 females. Ovigerous females and specimens with developed gonads in both sexes were found in all months sampled. In females, moult activity was recorded in all size classes while in males, it was verified from 20-27 mm to 90-97 mm size classes. The females produced more than one clutch during a single reproductive season, a fact evidenced by the presence of ovigerous females with ovaries in all the development phases. The species C. danae reproduces continuously, like most brachyurans from tropical waters.

Searching for larval support for majoid families (Crustacea : Brachyura) with particular reference to Inachoididae Dana, 1851

We re-evaluated the larval support for families within majoids using the Wilcoxon signed-rank test with emphasis on Inachoididae. To accomplish our objectives, we added 10 new taxa, two of which are traditionally assigned to the family of special interest, to a previous larval database for majoids, and re-appraised the larval characters used in earlier studies. Phylogenetic analysis was performed with PAUP* using the heuristic search with 50 replicates or the branch-and-bound algorithm when possible. Multi-state transformation series were considered unordered; initially characters were equally weighted followed by successive weighting, and trees were rooted at the Oregoniidae node. Ten different topological constraints were enforced for families to evaluate tree length under the assumption of monophyly for each taxonomic entity. Our results showed that the tree length of most constrained topologies was not considerably greater than that of unconstrained analysis in which most families nested as paraphyletic taxa. This may indicate that the present larval database does not provide strong support for paraphyly of the taxa in question. For Inachoididae, although the Wilcoxon signed-rank test rejected a significant difference between unconstrained and constrained cladograms, we were unable to provide a single synapomorphy for this clade. Except for the conflicting position of Leurocyclus and Stenorhynchus, the two clades correspond to the traditional taxonomic arrangement. Among inachoidids, the clade (Anasimus (Paradasygyius (Collodes + Pyromaia))) is supported, whereas for inachids, the clade (Inachus (Macropodia + Achaeus)) is one of the most supported clades within majids. As often stated, only additional characters will provide a better test for the monophyly of Inachoididae and other families within Majoidea.

Population features of the spider crab Acanthonyx scutiformis (Dana 1851) (Crustacea, Majoidea, Epialtidae) associated with rocky-shore algae from southeastern Brazil.

Acanthonyx scutiformis, an endemic species in the Brazilian coast, is commonly found in intertidal rocky-shore algal communities. This study analyzes the population biology of A. scutiformis from Ubatuba region. A total of 371 specimens were collected over one year. Size range was 4.2[long dash]12.7 mm CW (carapace width) for females and 3.7[long dash]15.8 mm CW for males. Females predominated in intermediate size classes, whereas males prevailed in the largest ones. The estimated size when 50% crabs were mature was 10.7 mm CW for males and 8.9 mm CW for females. Sex ratio varied among the demographic groups. The processes that influence A. scutiformis population structure can be related to the different times males and females reach sexual maturity and probably to the distinct predation pressures on each sex during the adult phase.

Morphohistological study of the venom gland in workers of the ant Pachycondyla striata F. Smith (Hymenoptera : Ponerinae)

Themorphology of the venom gland in workers of the ant Pachycondyla striata (F. Smith) (Hymenoptera: Ponerinae) consists of an elongated sac that is directly connected to the sting apparatus. Three distinct regions compose this gland: the external secretory portion, composed by a secretory filament that bifurcates to originate another two; the internal secretory portion, which is represented by the convoluted gland from which rises the excretory duct that liberates the venom; and the storage portion, consisting of a large sac-shaped reservoir. The histology showed that the gland possesses a strong musculature on its distal third. Underneath these muscle layers, we noted the presence of an epithelium that envelops the internal wall of the reservoir. The presence of a convoluted gland as well as secretion inside the reservoir was also noted.

Ultrastructural profile of metapleural gland cells of the ant Atta laevigata (F. Smith, 1858) (Formicidae: Attini)

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

Age and growth of the Scalloped Hammerhead shark, Sphyrna lewini (Griffith and Smith, 1834), from the southern Brazilian coast

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

Nest architecture of Pachycondyla striata Fr. Smith, 1858 (Formicidae, Ponerinae)

Nine nests of Pachycondyla striata Fr. Smith, 1858 were excavated between 2006 and 2007 at the UNESP university campus in Rio Claro, SP, southeastern Brazil. The P. striata population was larger in the two nests excavated in the months of August and November, 2006. The nests of this species are simple and poorly elaborated, with chambers and tunnels close to the ground surface. P. striata places the pupae in chambers isolated from the other individuals. The lack of chambers with the specific purpose of conditioning food and garbage underscores the simplicity of these nests.

Association of the stilt bug Jalysus ossesae Henry (Hemiptera : Heteroptera : Berytidae) with myrmecophytic plants of the genus Maieta (Melastomataceae) in an upland forest area in central Amazon, Brazil

Maieta guianensis Aubl. and M. poeppigii Mart. ex. Triana (Melastomataceae) are among the most common myrmecophytic plants in the Amazonian forest understory. These myrmecophytes are colonized exclusively by the ants Pheidole minutula Mayr or Crematogaster sp. and usually host two other arthropods, the spider Faiditus subflavus Exline and Levi and the recently described stilt bug Jalysus ossesae Henry. In this study, the association between J ossesae and the myrmecophytic plants M. guianensis and M. poeppigii in an upland forest area in central Amazon, Brazil, is described. The presence of the stilt bugs on M. guianensis and M. poeppigii and on plants around these myrmecophytes was recorded in five transects. The number and position of the stilt bugs on the leaf surface (upper or lower) and leaf type (with or without domatia) of these myrmecophytes, as well as their behavioral acts, were recorded. Jalysus ossesae was found only on the myrmecophytic plants M. guianensis and M. poeppigii. The stilt bug occurred at similar frequencies on M. guianensis and M. poeppigii, and the number of leaves significantly influenced the presence and number of stilt bugs on these myrmecophytes. Feeding, agonistic interaction between males, and mating were observed. Our data indicate that J. ossesae uses the myrmecophytes M. guinanensis and M. poeppigii as reproductive and foraging sites.

Parasitism capacity of Telenomus remus Nixon (Hymenoptera: Scelionidae) on Spodoptera frugiperda (Smith) (Lepidoptera: Noctuidae) eggs

Este trabalho estudou a capacidade de parasitismo de Telenomus remus Nixon (Hymenoptera: Scelionidae) em ovos de Spodoptera frugiperda (Smith) (Hymenoptera: Scelionidae) nas temperaturas de 15, 20, 25, 28, 31 e 35ºC objetivando usar esse inimigo natural em programas de controle biológico em culturas onde S. frugiperda é considerada praga. O parasitismo ocorrido nas primeiras 24 h foi de 60,90; 81,65; 121,05; 117,55 e 108,55 ovos parasitados por fêmea em massas ovos com aproximadamente 150 ovos, nas temperaturas de 15, 20, 25, 28 e 31ºC. Fêmeas de T. remus causaram mais de 80% do parasitismo dos ovos nas temperaturas de 15, 20, 25, 28 e 31ºC aos 5, 27, 8, 2 e 2 dias, respectivamente. Na temperatura de 35ºC não houve parasitismo. As maiores taxas de parasitismo ocorreram nas temperaturas de 20, 25, 28 e 31ºC. A longevidade média de fêmeas de T. remus nas temperaturas compreendidas entre 15 e 31ºC variou de 15,5 a 7,7 dias. A temperatura máxima testada (35ºC) foi inadequada ao desenvolvimento de T. remus, sendo que nessa temperatura as fêmeas apresentaram longevidade bastante reduzida (1,7±0,02 dia) e não houve emergência de adultos. Todas as curvas de sobrevivência para T. remus foram do tipo I o que mostram que para todas as temperaturas há um aumento da taxa de mortalidade com o tempo.

Teste de condutividade elétrica para avaliação da qualidade fisiológica de sementes Sebastiania commersoniana (Bail) Smith & Downs - Euphorbiaceae

O teste de condutividade elétrica tem sido excelente ferramenta para avaliar a qualidade de sementes de diversas espécies e, mais recentemente, estudos têm sido conduzidos visando verificar sua aplicabilidade em sementes florestais. Assim este trabalho objetivou estabelecer metodologia específica do teste de condutividade elétrica para sementes de branquilho. Foram usados três lotes de sementes resultantes do armazenamento em embalagens de vidro (Lote I), pano (Lote II) e papel (Lote III), em câmara fria (10ºC e 60% UR), por cinco meses, os quais foram submetidos ao teste de germinação, avaliando-se a porcentagem e o índice de velocidade de germinação. No teste de condutividade elétrica foram estudadas três quantidades de sementes por repetição (25, 50 e 75 sementes), três volumes de água deionizada (50, 75 e 100mL) e 11 tempos de embebição das sementes (2, 4, 6, 12, 18, 24, 30, 36, 42, 48 e 72h), a 25ºC. O lote I apresentou maior porcentagem e velocidade de germinação. O teste de condutividade elétrica possibilitou a mesma discriminação dos lotes que o teste de germinação, em combinações variadas dos fatores estudados. Foi possível separar o lote de melhor qualidade fisiológica (Lote I) dos demais lotes, já a partir de 2 horas de embebição, utilizando-se amostras de 75 sementes embebidas em 50, 75 ou 100mL de água; ou amostras de 50 sementes embebidas em 50mL de água, a partir de 18 horas de embebição. Desta forma, pode-se recomendar o uso de 75 sementes, embebidas em 75mL de água, por 24 horas à temperatura de 25ºC, para a condução do teste de condutividade elétrica.