Molecular diagnosis of Huntington disease in Brazilian patients

Huntington disease (HD) is a progressive neurodegenerative disorder with autosomal dominant inheritance, characterized by choreiform movements and cognitive impairment. Onset of symptoms is around 40 years of age and progression to death occurs in approximately 10 to 15 years from the time of disease onset. HD is associated with an unstable CAG repeat expansion at the 5' and of the IT15 gene. We have genotyped the CAG repeat in the IT15 gene in 44 Brazilian individuals (42 patients and 2 unaffected family members) belonging to 34 unrelated families thought to segregate HD. We found one expanded CAG allele in 32 individuals (76%) belonging to 25 unrelated families. In these HD patients, expanded alleles varied from 43 to 73 CAG units and normal alleles varied from 18 to 26 CAGs. A significant negative correlation between age at onset of symptoms and size of the expanded CAG allele was found (r=0.6; p=0.0001); however, the size of the expanded CAG repeat could explain only about 40% of the variability in age at onset (r2=0.4). In addition, we genotyped 25 unrelated control individuals (total of 50 alleles) and found normal CAG repeats varying from 16 to 33 units. The percentage of heterozigocity of the normal allele in the control population was 88%. In conclusion, our results showed that not all patients with the HD phenotype carried the expansion at the IT15 gene. Furthermore, molecular diagnosis was possible in all individuals, since no alleles of intermediate size were found. Therefore, molecular confirmation of the clinical diagnosis in HD should be sought in all suspected patients, making it possible for adequate genetic counseling.

The G209A mutation in the alpha-synuclein gene in Brazilian families with Parkinson's disease

A missense G209A mutation of the alpha-synuclein gene was recently described in a large Contursi kindred with Parkinson's disease (PD). The objective of this study is to determine if the mutation G209A of the alpha-synuclein gene was present in 10 Brazilian families with PD. PD patients were recruited from movement disorders clinics of Brazil. A family history with two or more affected in relatives was the inclusion criterion for this study. The alpha-synuclein G209A mutation assay was made using polymerase chain reaction and the restriction enzyme Tsp45I. Ten patients from 10 unrelated families were studied. The mean age of PD onset was 42.7 years old. We did not find the G209A mutation in our 10 families with PD. Our results suggest that alpha-synuclein mutation G209A is uncommon in Brazilian PD families.

Intercâmbios acadêmicos internacionais: bolsas Capes, CNPq e Fapesp

This article is part of a study considering the growing importance of the international transit of people, knowledge, and practices in the schooling and professional education processes of some social segments. Considering the public funds made available by the Coordination for the Improvement of Higher Education Personnel - Capes -, the National Council for Scientific and Technological Development - CNPq - and the State of São Paulo Research Foundation - Fapesp - to support researchers' fellowships abroad, aming to improve research and investments on Science and Technology on the context of international exchanges, we have dedicated this article to the preliminary description and analysis of the database of fellows funded abroad by these research agencies from 1970 to 2000. The movement of flows based on the quantitative methodology of the correlation of variables draws the trends of international academic exchange programs in the three research institutions and in the different areas of knowledge, and we intend to analyse them taking into account the scientific and technological development policies adopted by Brazilian State on the period.

Glicoproteína-P, resistência a múltiplas drogas (MDR) e relação estrutura-atividade de moduladores

Multidrug resistance, MDR is a major obstacle for cancer chemotherapy. MDR can be reversed by drugs that vary in their chemical structure and main biological activity. Many efforts have been done to overcome MDR based on studies of structure-activity relationships and in this review we summarize some aspects of MDR mediated by P-glycoprotein (P-gp), as the most experimentally and clinically tested form of drug resistance. The most significant MDR mechanisms revealed until now are shortly discussed. Physicochemical and structural properties of MDR modulators, measures of the MDR reversal, and QSAR studies are included.

Influência do auxílio mecânico na colheita de tomates

Fresh tomato harvest is traditionally made without harvesting aids. The main goal of this research was to evaluate performance parameters of fresh tomato harvesting aid equipment and compare it to traditional harvest, in the state of São Paulo. Therefore, an equipment was developed and the harvest process was evaluated in four different ways: traditional system (harvest system used in Santa Luzia farm, Brotas, SP, Brazil), picker walking with a harvesting aid equipment, picker seated in a harvesting aid equipment and a composition of both systems: two pickers seated and one picker walking in two different velocities ranges. The different systems using harvesting aid showed an average yield by picker more efficient than reference. Harvest system using three pickers showed an increase of 290% on yield average by picker, on the range of 0.5-1.0 fruit per plant, followed by the systems with a walking picker, that increased productivity in 41%, and picker seated harvester, that showed an increase of 35%. These results demonstrate the importance of using a harvesting aid equipment.

Aerodinâmica de leitos vibrofluidizados: uma revisão

Application of mechanical vibration to aid fluidization and to improve heat, mass and momentum transfer are usual processes in agricultural industry and it has found nowadays extensive applications in particle processing of materials difficult-to-fluidized. Equations and experimental data found in literature for the aerodynamics characteristics of vibro-fluidized beds are presented and discussed, emphasizing the vibration effect in the bed.

A Violação da Condição em Kadiwéu

Although kadiwéu presents the same typological facts as the languages analyzed by Baker (1995), this work shows that Baker's polysynthesis parameter , according to which polysynthetic languages are pronominal argument languages, cannot be applied to this language. This paper offers, then, an alternative analysis to the pronominal argument theory for kadiwéu by arguing that nominal phrases are the verbal arguments in this polysynthetic language, like in any other better known language. On this view, one of the main properties of the polysynthetic languages, the so-called Condition C violation (e.g. <>i wants John i to love Mary, <> i broke John i's knife), follows from syntactic movement due to the nature of the Kadiwéu v-system. That is, this paper questions the existence of a polysynthesis parameter and develops Fukui & Speas (1996) insight that the syntax of a given language follows from the functional categories present in this language's lexicon.

Estruturas factivas e padrões de extração

This paper investigates the relationship between structural and semantic properties of factive sentences and the pattern of extraction exhibited. It is argued that a classification as weak or strong island is unfeasible for what has been termed Factive Island. The kinds of structures allowed as factive complements are analyzed as well as their corresponding behavior concerning extraction. The common feature these structures show is their presuppositional character, which is derived from a selection requirement. I assume that factive predicates select a [+ specific] complement. The differences showed concerning extraction constitute a spontaneous effect from the structural way each construction may satisfy this requirement.

Sistema Nacional de Educação articulado ao Plano Nacional de Educação

This text which discusses the central theme of the National Conference on Education (CONAE), held in Brasília from 28th March to 1st April 2010, deals with the concept of a National System of Education in articulation with the National Plan of Education. To that end, after pointing to the basic uses of the concept of system, it discusses the question of the National System of Education exploring the federative question in order to reveal the complete compatibility of the organization of the National System of Education with the federative regime. Thereafter, it deals with the historical meaning of the National Plan of Education demonstrating that the plan is a demand of the system, since planned action is implicit in systematized education. Thus the National Plan of Education is fulfilling those goals and objectives for which it is responsible.

Movimentos sociais na contemporaneidade

The work aims to present an overview of social movements in actuality, in the Latin America, and presents a mapping of their main forms in Brazil. The search ponders the educational character of their actions, both for its participants, as for society in general and public agencies. The basic premise of assertion that social movements are sources of innovation and knowledge-generating arrays. However, because it is not an isolated process but social-political character, the paper search joints in the network of relationships that establish movements in political, economic and socio-cultural country, to understand the factors that generate learning built and values of political culture that are being built. . The text highlights movements that occurs in the areas of education - formal and non-formal education.

Phenotypic variability in a family with x-linked adrenoleukodystrophy caused by the p.Trp132Ter mutation

X-linked adrenoleukodystrophy (X-ALD) is an inherited disease with clinical heterogeneity varying from presymptomatic individuals to rapidly progressive cerebral ALD forms. This disease is characterized by increased concentration of very long chain fatty acids (VLCFAs) in plasma and in adrenal, testicular and nervous tissues. Affected individuals can be classified in different clinical settings, according to phenotypic expression and age at onset of initial symptoms. Molecular defects in X-ALD individuals usually result from ABCD1 gene mutations. In the present report we describe clinical data and the ABCD1 gene study in two boys affected with the childhood cerebral form that presented with different symptomatic manifestations at diagnosis. In addition, their maternal grandfather had been diagnosed with Addison's disease indicating phenotypic variation for X-ALD within this family. The mutation p.Trp132Ter was identified in both male patients; additionally, three females, out of eleven family members, were found to be heterozygous after screening for this mutation. In the present report, the molecular analysis was especially important since one of the heterozygous females was in first stages of pregnancy. Therefore, depending on the fetus outcome, if male and p.Trp132Ter carrier, storage of the umbilical cord blood should be recommended as hematopoietic stem cell transplantation could be considered as an option for treatment in the future.

Structural aspects of the p.P222Q homozygous mutation of HSD3B2 gene in a patient with congenital adrenal hyperplasia

Type II 3β-hydroxysteroid dehydrogenase/Δ5-Δ4-isomerase (3β-HSD2), encoded by the HSD3B2 gene, is a key enzyme involved in the biosynthesis of all the classes of steroid hormones. Deleterious mutations in the HSD3B2 gene cause the classical deficiency of 3β-HSD2, which is a rare autosomal recessive disease that leads to congenital adrenal hyperplasia (CAH). CAH is the most frequent cause of ambiguous genitalia and adrenal insufficiency in newborn infants with variable degrees of salt losing. Here we report the molecular and structural analysis of the HSD3B2 gene in a 46,XY child, who was born from consanguineous parents, and presented with ambiguous genitalia and salt losing. The patient carries a homozygous nucleotide c.665C>A change in exon 4 that putatively substitutes the proline at codon 222 for glutamine. Molecular homology modeling of normal and mutant 3β-HSD2 enzymes emphasizes codon 222 as an important residue for the folding pattern of the enzyme and validates a suitable model for analysis of new mutations.

Nossa notação m' na prova de Rorschach: ampliação e restrição do fator m de Klopfer

Klopfer's differentiation of movement scores, among which inanimate movement integrating the minor movements group, was no doubt opportune and needed. Their peculiar meaning has been clearly stressed and enriched by Piotrowski in his reformulation of Rorschach variables. It is our belief that Rorschach himself would take such step. Our criteria for scoring this determinant are somewhat different of both Klopfer's and Piotrowski's. On the one hand, masks, facial traits, emotional expressions, body parts in motion are not entered there. On the other, we score as such human or animal movement, provided this does not originate in the blot shape directly, but in the subjective reaction against the sensed muscular tension. Basic requirement for this scoring is the kinesthetic component, as for Mever since Rorschach's elaboration; and common trait distinctive for any response to be so scored ? be it an abstraction, an inanimate object, an animal or human being ? must be the subjective way of feeling the movement: (a) intention, blocking, struggle for achieving, for instance, or (b) activity of nature elements. Due to this subjective meaning we use the symbol m'intead of mfor this category. We already find these two kinds (a) and (b) of movement responses in Rorschach's text, respectively in the Examplesand in his posthumous Contribution.Either may point to a flight from emotional stress or to outstanding mental ability.

Análise cinemática tridimensional do salto em distância de atletas de alto nível em competição

Universidade Estadual de Campinas . Faculdade de Educação Física

Analise cinematica da movimentação dos membros superiores e inferiores, tronco e cabeça durante a marcha de hemipareticos

Universidade Estadual de Campinas . Faculdade de Educação Física