Ocorrência da mancha preta (Guignardia citricarpa) dos citros no Estado do Amazonas.

Edição dos resumos do 27º Congresso Paulista de Fitopatologia, 2004. Resumo 252

A novel organosolv approach to allow efficient biomass fractionation and successive exploitation

The separation and exploitation of all three main components of lignocellulosic biomass represents a challenging target for biorefinery. In this perspective a novel strategy has been studied for the fractionation and integral exploitation of Arundo Donax L. biomass, a feedstock characterized by low cost, large availability, favourable composition and ability to grow in marginal lands unsuitable for agriculture, avoiding any competition with food chain. The adoption of n-butanol played a fundamental dual role: as fractionation organosolv agent to separate cellulose, hemicellulose, and lignin and also as reagent for the conversion of the obtained cellulose fraction to n-butyl levulinate. A preliminary hot water pre-treatment of the biomass for reducing the content of extractives makes the separation even more effective. A preliminary optimization of the main reaction conditions was performed

Coarsening on percolation clusters: out-of-equilibrium dynamics versus non linear response

We analyze the violations of linear fluctuation-dissipation theorem (FDT) in the coarsening dynamics of the antiferromagnetic Ising model on percolation clusters in two dimensions. The equilibrium magnetic response is shown to be non linear for magnetic fields of the order of the inverse square root of the number of sites. Two extreme regimes can be identified in the thermoremanent magnetization: (i) linear response and out-of-equilibrium relaxation for small waiting times (ii) non linear response and equilibrium relaxation for large waiting times. The function $X(C)$ characterizing the deviations from linear FDT cross-overs from unity at short times to a finite positive value for longer times, with the same qualitative behavior whatever the waiting time. We show that the coarsening dynamics on percolation clusters exhibits stronger long-term memory than usual euclidian coarsening.Comment: 17 pages, 10 figure

Novel FAM126A mutations in hypomyelination and congenital cataract disease

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The TOF counters of the AMS-02 experiment: space qualification tests and beam test results

The scintillator counters of the TOF system of AMS-02 is beeing constructed to match the needs of the AMS-02 experiment that is armed by a high aperture superconducting dipole magnet. The goals of the TOF-02 hodoscopes actually are: to give the fast trigger to the all sub-detectors of AMS-02; to measure the particle velocity ensuring a 1 × 10 9 albedo rejection; to measure the absolute charge by particle energy loss, up to at least Z = 20 . In spring of 2005 all the TOF counter planes will be assembled and the space qualification tests will be performed. A description of the first test results and of the TOF performances will be given

Raising awareness of non-hodgkin lymphoma in HIV-infected adolescents: Report of 2 cases in the HAART era

Human immunodeficiency virus (HIV) chronically infected patients are at increased risk of developing non-Hodgkin lymphoma compared with the general population. Highly active antiretroviral therapy has had a dramatic effect on the natural history of HIV infection, reducing the incidence of acquired immunodeficiency syndrome-related non-Hodgkin lymphoma and improving overall survival. However, problems related to adherence to treatment, frequently experienced during adolescence, may increase the risk of acquired immunodeficiency syndrome-related cancers. Optimizing highly active antiretroviral therapy and monitoring noncompliant patients with persisting HIV replication should be considered by physicians who take care of these patients. We herein report 2 cases of relapsed/progressive Burkitt lymphoma in HIV vertically infected adolescents

PRIMA1 mutation: A new cause of nocturnal frontal lobe epilepsy

Objective Nocturnal frontal lobe epilepsy (NFLE) can be sporadic or autosomal dominant; some families have nicotinic acetylcholine receptor subunit mutations. We report a novel autosomal recessive phenotype in a single family and identify the causative gene. Methods Whole exome sequencing data was used to map the family, thereby narrowing exome search space, and then to identify the mutation. Results Linkage analysis using exome sequence data from two affected and two unaffected subjects showed homozygous linkage peaks on chromosomes 7, 8, 13, and 14 with maximum LOD scores between 1.5 and 1.93. Exome variant filtering under these peaks revealed that the affected siblings were homozygous for a novel splice site mutation (c.93+2T>C) in the PRIMA1 gene on chromosome 14. No additional PRIMA1 mutations were found in 300 other NFLE cases. The c.93+2T>C mutation was shown to lead to skipping of the first coding exon of the PRIMA1 mRNA using a minigene system. Interpretation PRIMA1 is a transmembrane protein that anchors acetylcholinesterase (AChE), an enzyme hydrolyzing acetycholine, to membrane rafts of neurons. PRiMA knockout mice have reduction of AChE and accumulation of acetylcholine at the synapse; our minigene analysis suggests that the c.93+2T>C mutation leads to knockout of PRIMA1. Mutations with gain of function effects in acetylcholine receptor subunits cause autosomal dominant NFLE. Thus, enhanced cholinergic responses are the likely cause of the severe NFLE and intellectual disability segregating in this family, representing the first recessive case to be reported and the first PRIMA1 mutation implicated in disease

Children’s participation in school grounds developments: creating a place for education that promotes children’s social inclusion

Abstract This paper advances the idea that ‘education for the social inclusion of children’ is similar but different to ‘inclusive education’ as it has come to be understood and used by some authors and UK government documents. ‘Inclusive education’ tends to carry an inward emphasis on the participation of children in the education system (with discussions on school culture, transitions, truancy, exclusion rates, underachievement, and school leaving age). In contrast, education for the promotion of children’s social inclusion requires an outward emphasis on children's participation in 'mainstream' society while they are still children. The latter emphasis is seen to be lacking in educational policy discourse in Scotland though a recent shift in policy towards education for active citizenship is noted. Examples are provided to show how many policy statements enact a limitation on the scope for education to promote children’s social inclusion by emphasising children’s deficits as social actors and focussing on the ‘condition’ of social exclusion. The paper draws on an empirical study of children’s participation in changing school grounds in Scotland. The analysis shows how the enclosure of learning in books, classrooms and normative curricula was challenged. Learning from school grounds developments was constructed relationally and spatially but the scope of what was to be learned was often delineated by adults. The paper closes with a discussion of how education that promotes the social inclusion of children will benefit from seeing both children and adults as current though partial citizens and utilising socio-spatial opportunities for the generation of uncertain curricula through their shared and/or differentiated participation

Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies

Objective: We investigated the contribution to sporadic focal epilepsies (FE) of ultrarare variants in genes coding for the components of complexes regulating mechanistic Target Of Rapamycin (mTOR)complex 1 (mTORC1). Methods: We collected genetic data of 121 Italian isolated FE cases and 512 controls by Whole Exome Sequencing (WES) and single-molecule Molecular Inversion Probes (smMIPs) targeting 10 genes of the GATOR1, GATOR2, and TSC complexes. We collapsed \u201cqualifying\u201d variants (ultrarare and predicted to be deleterious or loss of function) across the examined genes and sought to identify their enrichment in cases compared to controls. Results: We found eight qualifying variants in cases and nine in controls, demonstrating enrichment in FE patients (P = 0.006; exact unconditional test, one-tailed). Pathogenic variants were identified in DEPDC5 and TSC2, both major genes for Mendelian FE syndromes. Interpretation: Our findings support the contribution of ultrarare variants in genes in the mTOR pathway complexes GATOR and TSC to the risk of sporadic FE and a shared genetic basis between rare and common epilepsies. The identification of a monogenic etiology in isolated cases, most typically encountered in clinical practice, may offer to a broader community of patients the perspective of precision therapies directed by the underlying genetic cause