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.

Terapia oclusiva em ambliopia: fatores prognósticos

Purpose: Amblyopia is the most common form of visual problem in children and for more than 250 years occlusion therapy is the standard treatment. Thus our purpose is to identify the factors that influence the outcome of amblyopia treatment with occlusion therapy. Methods: We reviewed 169 amblyopic children seen in the outpatient clinic of amblyopia of the Campinas State University, between January 1996 and May 1998. Patients were analyzed regar-ding sex, age at start of treatment (3 groups), affected eye, type of amblyopia (strabismic, anisometropic, visual depri-vation, associated), follow-up, initial visual acuity (light, moderate, severe), compliance with treatment (good, poor) and outcome (fully treated, partially treated, not treated). Results: Compliance was not seen to be significantly related to age at start of treatment (p=0.68) or initial visual acuity (p=0.82). 52.67% of the patients were fully treated while 19.52% were partially treated and 27.81% were not treated. Children recorded as showing good compliance had a significantly better outcome than those with poor complian-ce (p=0.0009). Neither the age at start of treatment (p=0.39) nor the initial visual acuity (p=0.30) were significantly corre-lated with the final outcome. Conclusions: We concluded that the main factor affecting the final outcome of amblyopia treatment is compliance.

Estudo vídeo-polissonográfico em recém-nascidos de termo pequenos para a idade gestacional

Video-polygraphic-EEG studies were performed in the first 24 life-hours of 26 healthy full-term newborns without perinatal injuries. The neurological examination and cranial ultrasonography were normal. The newborns were divided into two groups: one, with full-term appropriate - birth weight 11 newborns (control group ) and the other with full-term low-birth weight 15 newborns. Thirteen newborns of the second group had video-polygraphic-EEG study abnormalities. The most frequent abnormalities were found in 11 cases, as far as sleep architecture is concerned. Also, when compared with the control group, 8 cases of an excessive amount of startles and 2 cases of low behavior activities were found. The results demonstrate the usefulness of video-polygraphic-EEG study in the full-term newborns with intra-uterine growth retard. This examination was sensitive to detect behavior, sleep architecture and EEG standard differences in the low birth-weight newborns as to the control group.

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.

Estudo comparativo dos métodos de estimativa da idade óssea de Greulich & Pyle e Tanner & Whitehouse

The purpose of this study was to verify whether the Greulich & Pyle (GP), Greulich & Pyle Visual (GPV) and Tanner & Whitehouse (TW) methods for estimating skeletal age could be applied in the Brazilian population, and which of these three methods could be considered more reliable when compared with the chronological age of the individuals. This study was based on one hundred and sixty volunteers (80 females and 80 males) with ages between 6 years and 10 months and 14 years and 9 months. The results showed that for the GP method, the correlations with chronological age were 0.95 for males and 0.97 for females. For the GPV method, the correlations were 0.96 and 0.97, respectively and for TW, 0.96 and 0.97. The results showed that the Greulich & Pyle, Greulich & Pyle Visual and Tanner & Whitehouse methods presented high correlation values when compared with the chronological age of the individuals. Corrective factors were established to make these methods applicable to the Brazilian population.

Influência da idade no comportamento da frequência cardíaca na transição repouso-exercício: uma análise por deltas e regressão linear

BACKGROUND: Changes in heart rate during rest-exercise transition can be characterized by the application of mathematical calculations, such as deltas 0-10 and 0-30 seconds to infer on the parasympathetic nervous system and linear regression and delta applied to data range from 60 to 240 seconds to infer on the sympathetic nervous system. The objective of this study was to test the hypothesis that young and middle-aged subjects have different heart rate responses in exercise of moderate and intense intensity, with different mathematical calculations. METHODS: Seven middle-aged men and ten young men apparently healthy were subject to constant load tests (intense and moderate) in cycle ergometer. The heart rate data were submitted to analysis of deltas (0-10, 0-30 and 60-240 seconds) and simple linear regression (60-240 seconds). The parameters obtained from simple linear regression analysis were: intercept and slope angle. We used the Shapiro-Wilk test to check the distribution of data and the t test for unpaired comparisons between groups. The level of statistical significance was 5%. RESULTS: The value of the intercept and delta 0-10 seconds was lower in middle age in two loads tested and the inclination angle was lower in moderate exercise in middle age. CONCLUSION: The young subjects present greater magnitude of vagal withdrawal in the initial stage of the HR response during constant load exercise and higher speed of adjustment of sympathetic response in moderate exercise.

Abnormally increased iron concentration in basal ganglia in Shy-Drager syndrome MR imaging and autonomic study: RM imagem e estudo autonômico

Report of an early case of Shy-Drager syndrome in a 67 year-old woman patient. Autonomic failure was diagnosed by functional evaluation as well as laboratory tests. MR imaging disclosed a prominent putamina hypodensity in T2-weighted images at high field strength due to iron increased depositing in this basal ganglia. MR imaging evidences confirm Shy-Drager syndrome diagnosis, and contributes for differential diagnosis of idiopathic hypotension (pure autonomic failure) in special in SDS early cases.

Treinamento concorrente : efeito sobre marcadores inflamatórios sistêmicos e indicadores funcionais em homens de meia idade

Universidade Estadual de Campinas . Faculdade de Educação Física

Efeitos de diferentes protocolos de treinamento físico sobre o controle autonômico e cardiorrespiratório em homens de meia-idade

Universidade Estadual de Campinas . Faculdade de Educação Física

Treinamento físico e fatores de risco cardiovascular em homens de meia-idade

Universidade Estadual de Campinas . Faculdade de Educação Física

Variabilidade dos indicadores antropométricos e de desempenho físico de jovens futebolistas em função da idade cronológica

Universidade Estadual de Campinas . Faculdade de Educação Física

Respostas agudas de parâmetros biomecânicos à utilização de diferentes tamanhos de palmar no nado crawl

Universidade Estadual de Campinas . Faculdade de Educação Física

Comparação dos indicadores funcionais e bioquimicos em homens de meia-idade submetidos a treinamento aerobio e corredores de longa distancia

Universidade Estadual de Campinas . Faculdade de Educação Física

Brincando no ambiente natural : uma contribuição para o desenvolvimento sensorio-motor da criança portadora de paralisia cerebral

Universidade Estadual de Campinas . Faculdade de Educação Física

Brincar : uma opção para a interação entre mãe ouvinte/filho surdo

Universidade Estadual de Campinas . Faculdade de Educação Física