Análise do gene TUBB3 e de Copy Number Variations em pacientes com Polimicrogiria

A polimicrogiria (PMG) é uma malformação do córtex cerebral causada por falhas no seu desenvolvimento, caracterizando-se por um número excessivo de pequenos giros e laminação anormal, dando à superfície cortical uma aparência irregular e grosseira. A gravidade de suas manifestações clínicas se relaciona diretamente com a extensão da malformação e das regiões cerebrais afetadas, sendo que a presença de lesões bilaterais ou unilaterais extensas indica um pior prognóstico. Uma das síndromes de polimicrogiria mais freqüentes e, conseqüentemente, mais bem descritas clinicamente, é a polimicrogiria perisylviana bilateral (PPB). Essa forma de PMG atinge a região que tange a fenda Sylviana, podendo apresentar-se tanto unilateralmente quanto em ambos os hemisférios. Vários genes têm sido relacionados a diferentes formas de polimicrogiria, são eles AFF2,TUBA1A, TUBB2B e TUBA8, SRPX2 e WDR62. Estes genes já foram estudados pelo nosso grupo de pesquisa em um grupo de pacientes compostos de casos familiares e esporádicos, acometidos em sua maioria pela forma perisylviana de PMG. Nenhuma variante deletéria foi identificada nestes genes. Recentemente um novo gene foi implicado na etiologia molecular das PMG, o TUBB3. O gene em questão pertence à mesma família de TUBA1A, TUBB2B e TUBA8 e codifica uma proteína de ligação aos microtúbulos, tendo importante papel na formação do fuso. Além deste gene, também tem sido descritas alterações genômicas, denominadas de Copy Number Variations (CNV), estas variações estruturais tem sido associadas com diversos distúrbios neurológicos, que vão desde transtornos psiquiátricos até malformações do córtex cerebral como a PMG. Desta forma, o objetivo deste trabalho foi analisar a existência de alterações de ponto deletérias no gene TUBB3 em pacientes com PMG e também, o envolvimento de CNVsna etiologia deste tipo de malformação ...

On the number of limit cycles in discontinuous piecewise linear differential systems with two pieces separated by a straight line

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

QCD chiral symmetry restoration with a large number of quarks in a model with a confining propagator and dynamically massive gluons

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Short communication: Variable number of tandem repeat polymorphisms in DGAT1 gene of buffaloes (Bubalus bubalis) is associated with milk constituents

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

Induced fractional valley number in graphene with topological defects

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Structure-activity relationship of mastoparan analogs: effects of the number and positioning of Lys residues on secondary structure, interaction with membrane-mimetic systems and biological activity

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

Influence of the number of load cycles to obtain the stiffness properties of angico preto (Anadenanthera macrocarpa) wood specie

The tests used to obtain the stiffness properties of wood are made with two loading cycles, as defined by the Brazilian standard ABNT NBR 7190 (Design of Timber Structures). However, the possibility of reducing the number of cycles allows decrease the operating time of the machine, resulting in reduced spending on electricity used during the tests. This research aimed to investigate, with the aid of the analysis of variance (ANOVA), the influence of the use of three load cycles to obtain the modulus of elasticity in compression parallel to grain (Ec0), in tensile parallel to the grain (Et0), in bending (Em) and in compression perpendicular to the grain (Ec90) of Angico Preto (Anadenanthera macrocarpa) wood specie. For the number of cycles and stiffness were manufactured 12 samples, totaling 144 specimens. The results of the ANOVA revealed statistical equivalence between the stiffness properties for both load cycle numbers evaluated, indicating that it is possible to carry out the tests with a single charge cycle, allowing savings in time and energy in the operation of the equipment.

Doses de superfosfato simples na produção da berinjela ‘ciça’ em cassilândia (MS) Brasil

The objective of this experiment was to evaluate the answer of the eggplant (Solanum melongena L.) submitted to different applied match doses in the planting hole. The treatments were composed by four doses of simple superphosphate (0, 1000, 2000, 3000 kg.ha-1), the experimental design was randomized block, with five repetitions, tends each unit experimental four plants. The phosphorus fertilized soil propitiated increase of the diameter of the lap of the adult plant, of the number of fruits for plant and productivity of fruits; could be used doses among 1814 to 2054 kg ha-1 of simple superphosphate in the conditions of Cassilandia (State of Mato Grosso do Sul - Brazil).

Gamma irradiation can control the number of psychotrophic bacteria in Agaricus bisporus during storage

We evaluated the effect of gamma irradiation doses (0, 125, 250, and 500 Gy) in control of psychrotrophic bacteria in different strains of Agaricus bisporus (ABI-07/06, ABI-05/03, and PB-1) during storage, cultivated in composts based on oat straw (Avena sativa) and Brachiaria spp. The experimental design was completely randomized in a factorial scheme 4  2  3 (irradiation doses  composts  strains), with 24 treatments, each consisting of 2 replicates, totaling 48 experimental units (samples of mushrooms). The mushrooms collected from all culture conditions were packaged in plastic polypropylene with 200 g each and subjected to Cobalt-60 irradiator, type Gammacell 220, and dose rate 0.740 kGy h–1 , according to the treatments. Subsequently, the control (nonirradiated) and other treatments were maintained at 4 ± 1°C and 90% relative humidity (RH) in a climatic chamber to perform the microbiological analysis of mushrooms on the 1st and 14th day of storage. According to the results, it was found that the highest mean colony psychotrophic count, after 14 days of storage, was observed in strain ABI-07/06 1.30 × 108 g -1 most probable number (MPN) in nonirradiated mushrooms, coming from Brachiaria grass-based compost, and this same strain under the same storage conditions, coming from the same type of compost that underwent a dose of 500 Gy, obtained a significant reduction in mean colonies of psychrotrophic bacteria (2.25 × 104 g –1 MPN). Thus, the irradiation doses tested favored reducing the number of colonies of psychrotrophic bacteria, regardless of the type of compound and strain of A. bisporus.

Refuge Update – May/June 2009, Volume 6, Number 3

Table of Contents: Recovering the New England Cottontail FOCUS..Ready for Tomorrow Build It and They Will Come CARE: Restoring America’s Wildlife Refuges

Refuge Update – May/June 2008, Volume 5, Number 3

Table of Contents: Liberating Rat Island, page 4 Focus on . . . Through the Eyes of Children, pages 10-19 Back to Midway, page 23

Refuge Update – May/June 2005, Volume 2, Number 3

Table of Contents: Friends Flourish, page 3 Yukon Delta Refuge Hosts Major Shorebird Research, pages 4-5 Focus on…Nature Photography, pages 8-14 Learning a New Language, pages 18-19

Refuge Update – May/June 2004, Volume 1, Number 3

Table of Contents: Recreation Fees Change the Face of Refuges, page 4 Focus on Cultural Resources, page 8 “Ambassadorship” is Thriving in Texas, page 15 BayScaping: Conserving Views and Habitats, page 16

Refuge Update – March/April 2008, Volume 5, Number 2

Table of Contents: Crystal River’s Manatee Rescue Squad, page 3 Focus on . . . Birds and Birding, pages 8-15 Assessing Damage in an Arizona Wilderness, page 16 Have Hammers, Will Travel page 18