Screening of ARHSP-TCC Patients Expands the Spectrum of SPG11 Mutations and Includes a Large Scale Gene Deletion

Autosomal recessive spastic paraplegia with thinning of corpus callosum (ARHSP-TCC) is a complex form of HSP initially described in Japan but subsequently reported to have a worldwide distribution with a particular high frequency in multiple families from the Mediterranean basin. We recently showed that ARHSP-TCC is commonly associated with mutations in SPG11/KIAA1840 on chromosome 15q. We have now screened a collection of new patients mainly originating from Italy and Brazil, in order to further ascertain the spectrum of mutations in SPG11, enlarge the ethnic origin of SPG11 patients, determine the relative frequency at the level of single Countries (i.e., Italy), and establish whether there is one or more common mutation. In 25 index cases we identified 32 mutations; 22 are novel, including 9 nonsense, 3 small deletions, 4 insertions, 1 in/del, 1 small duplication, 1 missense, 2 splice-site, and for the first time a large genomic rearrangement. This brings the total number of SPG11 mutated patients in the SPATAX collection to 111 cases in 44 families and in 17 isolated cases, from 16 Countries, all assessed using homogeneous clinical criteria. While expanding the spectrum of mutations in SPG11, this larger series also corroborated the notion that even within apparently homogeneous population a molecular diagnosis cannot be achieved without full gene sequencing. (C) 2008 Wiley-Liss, Inc.

Advanced functionality for radio analysis in the Offline software framework of the Pierre Auger Observatory

The advent of the Auger Engineering Radio Array (AERA) necessitates the development of a powerful framework for the analysis of radio measurements of cosmic ray air showers. As AERA performs ""radio-hybrid"" measurements of air shower radio emission in coincidence with the surface particle detectors and fluorescence telescopes of the Pierre Auger Observatory, the radio analysis functionality had to be incorporated in the existing hybrid analysis solutions for fluorescence and surface detector data. This goal has been achieved in a natural way by extending the existing Auger Offline software framework with radio functionality. In this article, we lay out the design, highlights and features of the radio extension implemented in the Auger Offline framework. Its functionality has achieved a high degree of sophistication and offers advanced features such as vectorial reconstruction of the electric field, advanced signal processing algorithms, a transparent and efficient handling of FFTs, a very detailed simulation of detector effects, and the read-in of multiple data formats including data from various radio simulation codes. The source code of this radio functionality can be made available to interested parties on request. (C) 2011 Elsevier B.V. All rights reserved.

Mineralogical and microthermometric studies and structural aspects of imperial topaz mineralization in Antonio Pereira, Ouro Preto District (Minas Gerais) - Brazil

The occurrences of imperial topaz in the Antonio Pereira mine, Ouro Preto, Minas Gerais, are associated with the metamorphic carbonate rocks of the Minas Supergroup. The crystals have densities varying from 3.46 to 3.58. The parameters of the unitary cells obtained were: 4.658 to 4.663 angstrom (ao), 8.823 to 8.832 angstrom (b(o)), 8.382 to 8.389 angstrom (c(o)), and 344.65 to 345.46 angstrom 3 (V). The refraction indices presented the following variations: 1.622 to 1.630 (nX), 1.624 to 1.632 (nY), 1.633 to 1.640 (nZ), and 0.008 to 0.011 (B). These properties are coherent with the low fluorine contents obtained (16,48%/17,05wt%). Infrared spectroscopy and microthermometry showed that the fluid inclusions, which represent the mineralizing fluids, are formed by H(2)O (with Ca(2+), Mg(2+) and Na(+)), and CO(2) +/- CH(4). The minimal trapping T-P conditions of 290/320 degrees C and 2,349/2,497bar were obtained for the primary fluid inclusions. The pseudo-secondary fluid inclusions were trapped at conditions of lower temperatures and variable pressures, during the deformation process under local alternating states of stress. The microthermometric studies, the structural analysis and the fluorine contents suggest that the mineralized veins were formed from hydrothermal fluids originated during the Brasiliano tectono-metamorphic event.

Acumulação de competências tecnológicas e os processos subjacentes de aprendizagem na indústria Mmtal - mecânica : o caso da empresa AGCO comércio e indústria LTDA em Santa Rosa - RS

This dissertation enfoca the relationship between technological competences accumulation and the learning underlying processes. This relationship is examined in the company AGCO Comércio and Indústria Ltda, during the period of 1970 to 2000. It is of a company metal-mechanics, agricultural machines manufacturer. In other words, the dissertation examines the processes technological learning implications for aA technological competences accumulation in the company in study. The dissertation enfoca the competences accumulation for three technological functions: processes and organization, products and equipments. The learning processes are examined to the light of four characteristic: variety, intensity, operation and interaction, from the structure existing analysis use in the literature. Based on study of individual case, this study found that the technological competences ways to accumulation in the studied company are associates to the several processes used to acquire technological knowledge and converts him in organizacional. Ademais, the simple incidence of these processes in the company didn't guarantee in the company a positive implication for the technological competences accumulation. The company accumulated level middleman-superior technological competence (level 6) to accomplish production and function products function processes and organization activities, and intermediary level (level 5) to accomplish function equipments activities. In haves to characteristic key, the learning processes introduce an oscillation differentiated along time: the variety oscillated of moderated the several; the intensity of intermittent the continuous; the operation of bad the good; and the interaction of weak the strong. Through the existing structure use in the literature, however applied to a previous studies different industry, this dissertation suggests that must there be an organized , continuous effort and integrated for the knowledge generation and sowing in every company in order to the technological training accumulation be accelerated in the company.

CLONAGEM do JAMBEIRO-ROSA (Syzygium malacensis) POR ESTAQUIA DE RAMOS ENFOLHADOS

O jambeiro-rosa é uma fruteira exótica que representa uma alternativa aos fruticultores, devido às características organolépticas de seus frutos. em virtude da segregação genética e ausência de sementes em vários clones, procurou-se, neste trabalho, estudar a propagação vegetativa, utilizando-se de estacas com folhas e a influência do tratamento com AIB. O trabalho foi realizado na Área experimental de fruticultura da Faculdade de Ciências Agrárias e Veterinárias -- UNESP, Câmpus de Jaboticabal, São Paulo, no período de outubro de 1998 a março de 1999, tendo como objetivo avaliar a capacidade de enraizamento de estacas com folhas apicais e subapicais de jambeiro-rosa com a utilização de diferentes concentrações de ácido indolbutírico (AIB). O delineamento experimental utilizado foi o inteiramente casualizado, em um esquema fatorial 2 x 4 (2 tipos de estacas e 4 concentrações de AIB), com 4 repetições e 10 estacas por parcela, num total de 320 estacas. As concentrações de AIB utilizadas foram: 0; 100; 200 e 400 mg.L-1, e as estacas foram colocadas em imersão lenta por 14 horas, no escuro. Foram avaliados os percentuais de sobrevivência das estacas e enraizamento das estacas, número médio de raízes e brotos por estaca, e comprimento médio dos brotos. Observou-se que o jambeiro-rosa pode ser propagado por estacas com folhas apicais sem a utilização de AIB.

Multiplicando veredas entre guimarães rosa e oswaldo lamartine

Universidade Federal do Rio Grande do Norte

Memórias da prisão: literatura e liberdade m estudo sobre Graciliano Ramos e Antonio Gramsci

La tese avvicina le Memorie dal carcere, di Graciliano Ramos e i Quaderni dal carcere di Antonio Gramsci, in una prospettiva in cui essi erano uniti per lo stesso ideale politico della prima metá del XX secolo e rappresentavano la resistenza intellettuale di fronte alla repressione. Entrambi furono vittime dell autoritarismo dei poteri fascisti e registrarono il periodo di prigione in differenti forme memorialistiche. Questi scrittori sono uniti anche per il contesto nazionale molto simile per la differenza economica tra le regioni. Condividono, inoltre, anche il concetto di arte e la certezza che l alienzazione dell intelligenza può essere superata solamente attraverso la ricostruzione delle basi nazionali per mezzo della conoscenza, dell educazione e della cultura. Si vuole mostrare come i concetti di Gramsci sono presenti non solo nella convinzione politica di Graciliano, ma in tutto il suo stile letterario memorialístico. Il lavoro, ancora, paragona le Memorie del carcere con due testi memorialistici di prigione in Italia, che sono Le mie prigioni, di Silvio Pellico, e Se questo è un uomo, di Primo Levi, per dimostrare che la proposta della letteratura gramsciana è molto più vicina allo scrittore brasiliano che ai due suoi conazionali.

Propriedades críticas de sistemas fora do equilíbrio via simulação Monte Carlo

Conselho Nacional de Desenvolvimento Científico e Tecnológico

Monte Carlo studies of N-methylformamide-dimethyl sulfoxide mixtures

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

Long-term effects of developmental exposure to di-n-butyl-phthalate (DBP) on rat prostate: Proliferative and inflammatory disorders and a possible role of androgens

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

Crystal structure of di-mu(N,S)-thiocyanato-bis[(N-benzylideneaniline-C-2,N)palladium(II)], [Pd(C6H4CH=NC6H5)(mu-SCN)](2)

C28H20N4Pd2S2, monoclinic, P12(1)/c1 (No. 14), a = 11.325(1) Angstrom, b = 13.530(1) Angstrom, c = 17.925(1) Angstrom, beta = 106.23(1)degrees, V = 2637.1 Angstrom(3), Z = 4, R-gt(F) = 0.052, wR(ref)(F-2) = 0.129, T = 293 K.

Synthesis and solid-state structural characterization of di-μ-azido-bis[{azido(N, N-diethylethylenediamine)}copper(II)]

The 1:1 mixed-ligand [{Cu(N3)2(diEten)}2] (diEten=N,N-diethylethylenediamine) complex has been synthesized and characterized by i.r. spectroscopy and X-ray diffraction. The compound crystallizes in the triclinic space group P1. Its structure consists of a centrosymmetric Cu2N2 unit whose N atoms belong to end-on azido bridges. Each copper atom is also surrounded by three nitrogen atoms; two from one N, N-diethylethylenediamine, and one from the remaining azide. The five nitrogen atoms altogether occupy the vertices of a slightly distorted trigonal bipyramid, and the azidobridges produced a rather short Cu...Cu distance of 3.37 Å. © 1989 Chapman and Hall Ltd.

Efeitos da carência de alguns nutrientes minerais no desenvolvimento de plantas de soja (Glycine max (L.) Merrill cv Santa Rosa)

The present work studies Ca, B and Zn omission on the development of soybean plants (Glycine max (L.) Merrill cv Santa Rosa). The experiment was carried out as hydroponic culture, with complete Hoagland & Arnon nutrient solution nr. 2 (C), lacking calcium (-Ca), lacking boron (-B) or lacking zinc (-Zn), a total of 4 treatments. Seven samplings were made to determine: total dry matter (g), root dry matter (g), stem dry matter (g) and leaf dry matter (g). Results showed that Ca and B omissions decreased dry weight. Lack of Zn did not affect dry weight.

Crystal structure of di-μ(N,S)-thiocyanato-bis[(N-benzylideneaniline-C 2,N)palladium(II)], [Pd(C6H4CH=NC 6H5)(μ-SCN)]2

C28H20N4Pd2S2, monoclinic, P121/c1 (No. 14), a = 11.325(1) Å, b = 13.530(1) Å, c = 17.925(1) Å, β = 106.23(1)°, V = 2637.1 Å 3, Z = 4, Rgt(F) = 0.052, wRref(F2) = 0.129, T = 293 K. © by Oldenbourg Wissenschaftsverlag.