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.

Is size structure a good measure of future trends of plant populations? an empirical approach using five woody species from the Cerrado (Brazilian savanna)

Size distributions in woody plant populations have been used to assess their regeneration status, assuming that size structures with reverse-J shapes represent stable populations. We present an empirical approach of this issue using five woody species from the Cerrado. Considering count data for all plants of these five species over a 12-year period, we analyzed size distribution by: a) plotting frequency distributions and their adjustment to the negative exponential curve and b) calculating the Gini coefficient. To look for a relationship between size structure and future trends, we considered the size structures from the first census year. We analyzed changes in number over time and performed a simple population viability analysis, which gives the mean population growth rate, its variance and the probability of extinction in a given time period. Frequency distributions and the Gini coefficient were not able to predict future trends in population numbers. We recommend that managers should not use measures of size structure as a basis for management decisions without applying more appropriate demographic studies.

Adaptações musculares ao treinamento de força com sobrecargas excentricas

Universidade Estadual de Campinas . Faculdade de Educação Física

A eficacia e a heterocronia das respostas de adaptação de basquetebolistas submetidos a diferentes modelos de estruturação da carga de treinamento e competição

Universidade Estadual de Campinas . Faculdade de Educação Física

Analise de volumes parciais do tronco durante a respiração por videogrametria

Universidade Estadual de Campinas . Faculdade de Educação Física

Qualidade de vida e avaliação fisica em intoxicados por mercurio : estudo observacional transversal descritivo

Universidade Estadual de Campinas . Faculdade de Educação Física

Associação entre a força explosiva e a velocidade de deslocamento em futebolistas profissionais

Universidade Estadual de Campinas. Faculdade de Educação Física

Estado nutricional e desempenho motor de escolares = : Nutritional state and motor performance of scholl-age children

Universidade Estadual de Campinas . Faculdade de Educação Física

Tradução, adaptação transcultural e validação do "Body Image Avoidance Questionnaire (BIAQ)" e do "Body Checking Questionnaire (BCQ)" para lingua portuguesa no Brasil

Universidade Estadual de Campinas . Faculdade de Educação Física

Incontinencia urinaria e atividade fisica : uma revisão da literatura

Universidade Estadual de Campinas . Faculdade de Educação Física

O efeito posterior duradouro de treinamento (EPDT) das cargas concentradas de força : investigação a partir de ensaio com equipe infanto juvenil e juvenil de voleibol

Universidade Estadual de Campinas. Faculdade de Educação Física

Estudo teorico dos aspectos prosturais e da plasticidade muscular frente ao alongamento

Universidade Estadual de Campinas. Faculdade de Educação Física

Metabolismo de lipoproteinas plasmaticas em fumantes cronicos sob o efeito agudo do fumo

Universidade Estadual de Campinas . Faculdade de Educação Física

O basquetebol paulista : analise critico-pedagogica sobre sua iniciação

Universidade Estadual de Campinas . Faculdade de Educação Física

Futebol : as cargas concentradas de força e a dinamica da alteração das capacidades biomotoras no macrociclo anual de treinamento

Universidade Estadual de Campinas . Faculdade de Educação Física