17 resultados para Acil-CoA desidrogenase : Cadeia média : Deficiência
em Repositório da Produção Científica e Intelectual da Unicamp
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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.
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This article is divided into two parts. The first presents two abstract arguments that constitute the starting point for the development of the second part, which is directed towards discussing some aspects of the distance learning policies, i.e., the role of public authorities in encouraging and shaping this type of education. First of all, it is intended to establish some assumptions to understand the emergence of this phenomenon and some of its conditioning factors and consequences; then to suggest some analytical tools to allow us to reflect on public policy in this area.
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The study describes the comprehension of concepts about sexuality by youths diagnosed with intellectual deficiency, during classes on sexual education. The analysis of selected episodes from video transcriptions of five classes (Human Body, Kiss, Flirting, Coitus, Condom/STD) showed: the appropriation and understanding of concepts, partial difficulties of comprehension, and inhibition. The analysis of the transcripts indicated that all students were attentive to the classes, participated in the proposed tasks, and answered the questions. The observed signs of inhibition and the expression of values were similar to those observed in other youngsters, indicating the appropriation of culturally established values. The obtained evidences contrast with mythical visions related to sexuality in these youngsters, and suggest more studies about their competences.
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Losses of horticulture product in Brazil are significant and among the main causes are the use of inappropriate boxes and the absence of a cold chain. A project for boxes is proposed, based on computer simulations, optimization and experimental validation, trying to minimize the amount of wood associated with structural and ergonomic aspects and the effective area of the openings. Three box prototypes were designed and built using straight laths with different configurations and areas of openings (54% and 36%). The cooling efficiency of Tommy Atkins mango (Mangifera Indica L.) was evaluated by determining the cooling time for fruit packed in the wood models and packed in the commercially used cardboard boxes, submitted to cooling in a forced-air system, at a temperature of 6ºC and average relative humidity of 85.4±2.1%. The Finite Element Method was applied, for the dimensioning and structural optimization of the model with the best behavior in relation to cooling. All wooden boxes with fruit underwent vibration testing for two hours (20 Hz). There was no significant difference in average cooling time in the wooden boxes (36.08±1.44 min); however, the difference was significant in comparison to the cardboard boxes (82.63±29.64 min). In the model chosen for structural optimization (36% effective area of openings and two side laths), the reduction in total volume of material was 60% and 83% in the cross section of the columns. There was no indication of mechanical damage in the fruit after undergoing the vibration test. Computer simulations and structural study may be used as a support tool for developing projects for boxes, with geometric, ergonomic and thermal criteria.
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OBJECTIVE: To evaluate insulin resistance and lipid profile in women with congenital adrenal hyperplasia (CAH) caused by classical 21-hydroxylase deficiency (21OHD), and their association with body mass index (BMI) and corticosteroid dosage. SUBJECTS AND METHODS: We assessed BMI, waist circumference, current glucocorticoid dosage, glucose, insulin and lipid profile in eighteen young women (mean ± SD, 19.3 ± 3.0 years) with 21OHD CAH. RESULTS: BMI was normal in 12 patients, 5 of them were overweight, and 1 was obese. Waist circumference was high in 7 patients. Fasting insulin and HOMA-IR were elevated in seven and eight patients, respectively. Total cholesterol and triglycerides were high in only two patients, and HDL-cholesterol was low in four. Insulin resistance was not associated with BMI, waist circumference or glucocorticoid dose. CONCLUSIONS: Young women with 21OHD CAH had infrequent dyslipidemia, but had a higher prevalence of insulin resistance and central obesity, that were independent of BMI or corticosteroid dosage.
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PURPOSE: To verify perceptions and conduct of students with visual impairment regarding devices and equipment utilized in schooling process. METHODS: A transversal descriptive study on a population of 12-year-old or older students in schooling process, affected by congenital or acquired visual impairment, inserted in the government teaching system of Campinas during the year 2000. An interview quiz, created based on an exploratory study was applied. RESULTS: A group of 26 students, 46% of them with low vision and 53.8% affected by blindness was obtained. Most of the students were from fundamental teaching courses (65.4%), studying in schools with classrooms provided with devices (73.1%). Among the resources used in reading and writing activities, 94.1% of the students reported they used the Braille system and 81.8% reported that the reading subject was dictated by a colleague. Most of the students with low vision wore glasses (91.7%), and 33.3% utilized a magnifying glass as optical devices. Among the non-optical devices, the most common were the environmental ones, getting closer to the blackboard (75.0%) and to the window (66.7%) for better lighting. CONCLUSIONS: It became evident that students with low vision eye-sight made use of devices meant for bearers of blindness, such as applying the Braille system. A reduced number of low vision students making use of optical and non-optical devices applicable to their problems were observed, indicating a probable unawareness of their visual potential and the appropriate devices to improve efficiency.
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A case of giant aneurysm of the left middle cerebral artery, in a 28-year-old right-handed woman, successfuly operated is reported. The aneurysm measur- ing 35 x 27 x 23 mm showed clinical manifestations as a space-occupying lesion. The patient recovered completely after the total excision of the aneurysm.
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Universidade Estadual de Campinas . Faculdade de Educação Física
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Universidade Estadual de Campinas . Faculdade de Educação Física
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Universidade Estadual de Campinas . Faculdade de Educação Física
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Universidade Estadual de Campinas . Faculdade de Educação Física
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Universidade Estadual de Campinas . Faculdade de Educação Física
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Universidade Estadual de Campinas . Faculdade de Educação Física
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Universidade Estadual de Campinas . Faculdade de Educação Física
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Universidade Estadual de Campinas . Faculdade de Educação Física