Clinical and molecular phenotype of Aicardi-Goutières syndrome

Aicardi-Goutières syndrome (AGS) is a genetic encephalopathy whose clinical features mimic those of acquired in utero viral infection. AGS exhibits locus heterogeneity, with mutations identified in genes encoding the 3′→5′ exonuclease TREX1 and the three subunits of the RNASEH2 endonuclease complex. To define the molecular spectrum of AGS, we performed mutation screening in patients, from 127 pedigrees, with a clinical diagnosis of the disease. Biallelic mutations in TREX1, RNASEH2A, RNASEH2B, and RNASEH2C were observed in 31, 3, 47, and 18 families, respectively. In five families, we identified an RNASEH2A or RNASEH2B mutation on one allele only. In one child, the disease occurred because of a de novo heterozygous TREX1 mutation. In 22 families, no mutations were found. Null mutations were common in TREX1, although a specific missense mutation was observed frequently in patients from northern Europe. Almost all mutations in RNASEH2A, RNASEH2B, and RNASEH2C were missense. We identified an RNASEH2C founder mutation in 13 Pakistani families. We also collected clinical data from 123 mutation-positive patients. Two clinical presentations could be delineated: an early-onset neonatal form, highly reminiscent of congenital infection seen particularly with TREX1 mutations, and a later-onset presentation, sometimes occurring after several months of normal development and occasionally associated with remarkably preserved neurological function, most frequently due to RNASEH2B mutations. Mortality was correlated with genotype; 34.3% of patients with TREX1, RNASEH2A, and RNASEH2C mutations versus 8.0% RNASEH2B mutation-positive patients were known to have died (P = .001). Our analysis defines the phenotypic spectrum of AGS and suggests a coherent mutation-screening strategy in this heterogeneous disorder. Additionally, our data indicate that at least one further AGS-causing gene remains to be identified. © 2007 by The American Society of Human Genetics. All rights reserved.

Highlights from the I international symposium of thrombosis and anticoagulation in internal medicine, October 23-25, 2008, Sao Paulo, Brazil

The importance of thrombosis and anticoagulation in clinical practice is rooted firmly in several fundamental constructs that can be applied both broadly and globally. Awareness and the appropriate use of anticoagulant therapy remain the keys to prevention and treatment. However, to assure maximal efficacy and safety, the clinician must, according to the available evidence, choose the right drug, at the right dose, for the right patient, under the right indication, and for the right duration of time. The first International Symposium of Thrombosis and Anticoagulation in Internal Medicine was a scientific program developed by clinicians for clinicians. The primary objective of the meeting was to educate, motivate and inspire internists, cardiologists and hematologists by convening national and international visionaries, thought-leaders and dedicated clinician-scientists in Sao Paulo, Brazil. This article is a focused summary of the symposium proceedings. © Springer Science+Business Media, LLC 2009.

Educaçãdo matemática na realidade do ciberespaço - Que aspectos ontológicos e científicos se apresentam?

The question that leads this article is What is this virtual space in the on-line mathematics education process? We focus on the question of the real and virtual as issues taken as components of cyberspace. We investigate these notions in the history of philosophy, looking to Granger to find their meaning, to enable us to understand them and fit them into the sphere of Mathematics Education. This theoretical-philosophical article, then, claims that the virtuality of cyberspace is supported by the computer screen, built by the unification of the sciences (mathematics), technology and its applications. Software and the actions taken by Internet users update the capability of these programs in a variety of characteristics and possibilities such as space-time flow interconnections as well as during the mathematics education process.

English collocations extracted from a corpus of university learners and its contribution to a language teaching pedagogy

Taking into consideration the relevance of foreign language teaching and the learning of collocations (ALTENBERG; EEG-OLOFSSON, 1990; FONTENELLE, 1994; MEUNIER; GRANGER, 2008), this paper aims at showing results of an investigation on whether the teaching of collocations should be implicit or explicit to the Brazilian university students. Furthermore, the research has the purpose of presenting some collocational aspects from a corpus of the written language learners made up of intermediate, upper intermediate and advanced university students' argumentative essays at a public university in Brazil. With the help of WordSmith Tools (SCOTT, 2007), it was possible to raise students' most frequent collocational choices and patterns, the most/least used type of collocations, the influence of the mother tongue on their choices, among other aspects. With the purpose of motivating and involving students in classroom research, it was also introduced The Corpus of Contemporary American English (COCA), created by Mark Davies. By doing so, students could compare their collocational choices with the patterns found in the online corpus, extract more collocational patterns and, consequently, be aware of the potential of corpora for the foreign learning process, specifically for raising language awareness, with focus on prefabricated chunks.

Sobre a filosofia da mente de John Searle

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Dívida pública brasileira (1822-2004): sua história e os efeitos sobre o crescimento econômico

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

Análise da dinâmica de preços entre os mercados futuros de grão, farelo e óleo de soja na China e Estados Unidos

Pós-graduação em Agronomia (Energia na Agricultura) - FCA

Scanning Electron Microscopy of Male Terminalia and Its Application to Species Recognition and Phylogenetic Reconstruction in the Drosophila saltans Group

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

Impact of the medicine Hydroxyurea on reproduction and development, using Drosophila melanogaster as a model organism

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Effect of sublethal doses of the insecticide imidacloprid on adaptive traits of Drosophila melanogaster: Response to treatment over and after 15 consecutive generations

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

Effect of caffeine on larval mortality of Aedes aegypti: efficiency related to solution concentration and age

In two experiments, the duration of the effect of caffeine (CAF) solutions on larval mortality (LM) of Aedes aegypti was analyzed. In the first, LM was studied using solutions at 0.2, 0.5, 1.0 and 2.0 mg/mL aged from zero to five days in artificial breeding sites exposed to the laboratory environment (LE). In the second, the solutions aged at 1.0, 2.0 and 2.5 mg/mL closed flasks were stored in LE or in the refrigerator (R), and the effect on LM was tested in the experimental breeding sites at 30 days interval. In the first, the duration of the effect increased with the solution age in each CAF concentration. CAF at 1.0 and 2.0 mg/mL, without addition of food, produced 100% LM until 25 days after preparation; with food, at 11 and 18 days, respectively. In the second the effectiveness of CAF solutions lasted up to the seventh month, irrespective of whether they were stored in R or in LE. No adult emerged at any of the CAF concentrations used in second experiment.