Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3 and DRPLA) in a large group of Brazilian patients

Spinocerebellar ataxia type 1 (SCA1), spinocerebellar ataxia type 2 (SCA2) and Machado-Joseph disease or spinocerebellar ataxia type 3 (MJD/SCA3) are three distinctive forms of autosomal dominant spinocerebellar ataxia (SCA) caused by expansions of an unstable CAG repeat localized in the coding region of the causative genes. Another related disease, dentatorubropallidoluysian atrophy (DRPLA) is also caused by an unstable triplet repeat and can present as SCA in late onset patients. We investigated the frequency of the SCA1, SCA2, MJD/SCA3 and DRPLA mutations in 328 Brazilian patients with SCA, belonging to 90 unrelated families with various patterns of inheritance and originating in different geographic regions of Brazil. We found mutations in 35 families (39%), 32 of them with a clear autosomal dominant inheritance. The frequency of the SCA1 mutation was 3% of all patients; and 6 % in the dominantly inherited SCAs. We identified the SCA2 mutation in 6% of all families and in 9% of the families with autosomal dominant inheritance. The MJD/SCA3 mutation was detected in 30 % of all patients; and in the 44% of the dominantly inherited cases. We found no DRPLA mutation. In addition, we observed variability in the frequency of the different mutations according to geographic origin of the patients, which is probably related to the distinct colonization of different parts of Brazil. These results suggest that SCA may be occasionally caused by the SCA1 and SCA2 mutations in the Brazilian population, and that the MJD/SCA3 mutation is the most common cause of dominantly inherited SCA in Brazil.

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.

Reflexão sobre alguns desafios do ensino médio no Brasil hoje

The purpose of this article is to develop some ideas that may contribute to the debate about the secondary education in Brazil, giving emphasis to the conditions existing in the educational institutions, the ongoing educational policies and the challenges posed by the social, economic and political reality of the country. It is also discussed the political, social and economic importance of the expansion and the compulsory character of secondary education as well as the school's culture dimension, in its relationship to the so-called knowledge society. Finally, the role of secondary education for the youth and the new demands it poses for teachers are presented, among some others aspects.

A dança na formação docente em educação física

Universidade Estadual de Campinas . Faculdade de Educação Física

A Educação Física no contexto da nova estrutura do ensino fundamental : uma proposta para o primeiro ano

Universidade Estadual de Campinas . Faculdade de Educação Física

Esporte e clube sócio-esportivo : percurso, contextos e perspectivas a partir de um estudo de caso em clube esportivo espanhol

Universidade Estadual de Campinas . Faculdade de Educação Física

Medalhistas de ouro nas Paraolimpiadas de Atenas 2004 : reflexões de suas trajetorias no desporto adaptado

Universidade Estadual de Campinas . Faculdade de Educação Física

Praticas socioculturais, poder e diferenciação em Bico, Cuiamucu e Canela-Fina - comunidades amazonicas

Universidade Estadual de Campinas . Faculdade de Educação Física

Acões motrizes e representações sociais no jogo do laço no vale do Itabapoana

Universidade Estadual de Campinas . Faculdade de Educação Física

30 anos do Colégio Brasileiro de Ciências do Esporte : educação física e a construção de uma hegemonia

Universidade Estadual de Campinas . Faculdade de Educação Física

O ensino do esporte paralímpico na escola a partir da visão dos professores : o caso do Goolball e do voleibol sentado = The teaching paralympic sport at school from teacher's perspective : the case of Goalball and sitting volleyball

Universidade Estadual de Campinas . Faculdade de Educação Física

Hegemonia e contra-hegemonia na construção de políticas de esporte e lazer : a experiência do Consórcio Brasília = Hegemony and counter-hegemony in the process of sport and leisure policy-making : the experience of the Consortium Brasilia

Universidade Estadual de Campinas . Faculdade de Educação Física

Dança em cadeira de rodas : os sentidos da dança como linguagem não-verbal

Universidade Estadual de Campinas. Faculdade de Educação Física

Ginastica geral : uma area do conhecimento da educação fisica

Universidade Estadual de Campinas. Faculdade de Educação Física

Segmental LeFort I osteotomy for treatment of a class III malocclusion with temporomandibular disorder

This article reports the case of a 19-year-old young man with Class III malocclusion and posterior crossbite with concerns about temporomandibular disorder (TMD), esthetics and functional problems. Surgical-orthodontic treatment was carried out by decompensation of the mandibular incisors and segmentation of the maxilla in 4 pieces, which allowed expansion and advancement. Remission of the signs and symptoms occurred after surgical-orthodontic intervention. The maxillary dental arch presented normal transverse dimension. Satisfactory static and functional occlusion and esthetic results were achieved and remained stable. Three years after the surgical-orthodontic treatment, no TMD sign or symptom was observed and the occlusal results had not changed. When vertical or horizontal movements of the maxilla in the presence of moderate maxillary constriction are necessary, segmental LeFort I osteotomy can be an important part of treatment planning.