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.

Heterogeneidade do desempenho de alunos da Unicamp, do ingresso à conclusão

The aim of this work is to propose a methodology to evaluate the performance of students at Unicamp [São Paulo State University at Campinas] from admission to graduation. The sample consists of all students enrolled in Unicamp from 1997 to 2000, and the population corresponds to the universe of students throughout the existence of the university. The available database was gathered from socio-cultural questionnaires applied by the University Commission on College Entrance Examination at the time of enrollment for the examination (vestibular) and from academic information provided by the Unicamp Academic Studies Board. A methodology is proposed based on the relative gain variable suggested by Dachs and Maia (2006). This new methodology is based on the diversity measures proposed by Rao (1982) and on the use of U-statistics. Homogeneity tests have been proposed to assess whether there is a difference in performance among students from different groups.

The relationship between physical aspects of quality of life and extreme levels of regular physical activity in adults

This study aimed to check for any significant differences in perceived quality of life, specifically aspects of a physical nature, among volunteers who are more physically active and those less physically active in a university community. The sample consisted of 1,966 volunteers in a university community in Brazil. To assess physical activity levels, volunteers responded to the International Physical Activity Questionnaire (IPAQ), and to analyse the perception of quality of life they responded to WHOQOL-bref, which is classified into three groups according to level of physical activity, taking into account the metabolic equivalent index (MET) over a full week. For comparison, consideration was given to the first and third tertiles, respectively, namely groups of more and less active students. The results indicated that individuals who engaged in more physical activity had a more positive perception of quality of life compared to those who were less active in physical aspects related to the ability to work, energy for day-to-day activities and locomotion.

Factors associated with the prevalence of hypertension and control practices among elderly residents of São Paulo city, Brazil

The aim of this study was to analyze the prevalence of hypertension and control practices among the elderly. The survey analyzed data from 872 elderly people in São Paulo, Brazil, through a cluster sampling, stratified according to education and income. A Poisson multiple regression model checked for the existence of factors associated with hypertension. The prevalence of self-reported hypertension among the elderly was 46.9%. Variables associated with hypertension were self-rated health, alcohol consumption, gender, and hospitalization in the last year, regardless of age. The three most common measures taken to control hypertension, but only rarely, are oral medication, routine salt-free diet and physical activity. Lifestyle and socioeconomic status did not affect the practice of control, but knowledge about the importance of physical activity was higher among those older people with higher education and greater income. The research suggests that health policies that focus on primary care to encourage lifestyle changes among the elderly are necessary.

A motivação de alunos no contexto da progressão continuada

This study investigated the intrinsic and extrinsic motivacional orientations of students in the context of the educational continuous progression. The sample was composed of 160 subjects of second, fourth, sixth and eighth grades of the elementary school. Data was collected by means of the presentation of histories involving the intrinsic, extrinsic motivation and the educational continuous progression system. Subjects were interviewed individually. Their answers were transcribed verbatim and submitted to content analysis. Results indicated that a expressive percentage of students did not know the educational system of continuous progression. Students revealed a predominantly intrinsic motivation orientation with advances in age and in school grade level, even though knowing that they will not repeat any school grade. This study pointed out the importance of deepening our knowledge concerning the impact of the educational continuous progression in students' motivation to learn.

Gênero e estresse em trabalhadores de uma universidade pública do estado de São Paulo

The aim of this paper was to identify, according to gender, the indexes of Mental Health and the Psychosocial Risk Factors in workers at a state University. A sample of 400 was randomly selected, 253 female and 147 male. They were assessed by means of The Questionnaire SWS Survey (Self, Work and Social) (Ostermann & Gutiérrez, 1992), validated in Brazil by Guimarães and Macfadden (1999). Univariate, bivariate, multivariate statistics were assessed. Significant associations emerged from Mental Health and Gender, and Psychosocial Risk Factors and Gender. Women showed greater Psychosocial Risk Factors, Work and Social Stress, worst mental health than men (p < 0.05), which place them at greater risk for developing physical and/or mental illness.

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.

Determinação do máximo déficit acumulado de oxigênio: efeito da duração dos testes submáximos para predição da demanda de oxigênio

The aim of this study was to investigate the influence of different assessment time periods of submaximal tests on the determination of the maximal accumulated oxygen deficit (MAOD), through the adoption of different time slots of 4 to 6, 6 to 8 and 8 to 10 min. Ten cyclists with mean age of 27.5 ± 4.1 years, body mass 74.4 ± 12.7 kg and time experience of 9.8 ± 4.7 years participated in this study. The athletes underwent an incremental exercise test to determine the peak oxygen consumption (VO2peak), and four submaximal constant work-load test sessions (60, 70, 80 and 90% VO2peak) of 10 min in order to estimate the O2 demand (DEO2). The mean VO2 values obtained on each constant work-load for the 4 to 6, 6 to 8 and 8 to 10 min time-periods intervals were used to perform a linear regression between the intensity and O2 consumption for each time-period. In addition, the subjects performed one supramaximal rectangular test (110% VO2peak) for the quantification of MAOD. There was no significant difference in VO2 between the different time-periods for all submaximal tests (P> 0.05). Similarly, no significant difference was found in DEAO2 and MAOD (P> 0.05). Furthermore, the values of MAOD for the three time-periods intervals showed good agreement and strong correlation. Thus, the data suggest that the submaximal tests used to estimate the values of MAOD can be reduced, at least in this type of sample, and with the use of a cycle simulator.

Efeito de 13 semanas de treinamento físico militar sobre a composição corporal e o desempenho físico dos alunos da escola preparatória de cadetes do exército

INTRODUCTION: Armies from all over the world acknowledge the importance of good physical fitness for the performance of military duties. The Military Exercise Training (MET) attempts to provide assistance to this search for better physical fitness and performance. OBJECTIVE: To verifying the effect on the body composition and physical performance of the students at ESPCEX (Military School for Preparation of Army Cadets) after 13 weeks of MET. METHODS: The sample was formed by 287 male students from the ESPCEX, whose average age was 18.33 ±1.26. Such students accomplished a boarding school routine, having defined schedules, meals and activities from which they were only released during the weekends. The MET was accomplished five days a week and it comprised both aerobic and resistance training. Measurement of body mass, height, skinfold (triceps, abdominal and suprailiac) was accomplished during pre and post training periods, and the following tests were performed: 12-minutes-run, oblique sit up, arm push up and pull up. Fat percentage, fat-free body mass and fat body mass were calculated using the anthropometric data based on the Guedes 3 skinfold protocol. RESULTS: Significant reduction in fat body mass, fat percentage and in triceptal and abdominal skinfold, as well as increase in suprailiac skinfold and fat-free body mass was observed when anthropometric and body composition data were compared, during the initial and the final periods of training. Significant improvement also occurred in all prformed physical tests, in which better performance was achieved. CONCLUSION: The acquired data suggest that performance of MET 5 days a week brought significantly improved body composition as well as physical performance

TEOR DE CAFEÍNA EM CAFÉS BRASILEIROS

Different brands and batches of brazilian regular and instant coffee were purchased in supermarkets of Campinas? city and analysed for caffeine content. The method used involved extraction with boiling water, clarification with saturated basic acetate and determination by high performance liquid cromatography. Analysis was carried out using a Model 6000 A solvent delivery system (Waters associates), and a Model 7125 sample injector system (Reodyne, Inc.) with a 5µl sample loop. The system was also equipped with a Waters Model M440 absorbance detector set at 254 nm. A Merck ODS 5µm column (15 cm x 4.6 mm i.d.) was used to separate the caffeine. The mobile phase was methanol:water (25:75, v/v). The caffeine content varied for different brands and types of coffee and according to the beverage preparation technique. Values in the range of 0.43 to 0.85 mg/ml and 0.61 to 0.82 mg/ml were determined in regular and instant coffee, respectively.

Análise tempo-intensidade dos estímulos doce e amargo de extrato de folhas de estévia [Stevia rebaudiana (Bert.) Bertoni] em doçura equivalente a sacarose

The extract of stevia leaves (Stevia rebaudiana Bertoni) is the only sweetener utilized in sucrose substitution which can be produced totally in Brazil. The objective of this study, was determine the temporal characteristic of sweet and bitter taste of stevia and compare with sucrose at 3 and 10% in the same equi-sweet. The time-intensity curves (T-I) for each substance were collected through the software Sistema de Coleta de Dados Tempo-Intensidade - SCDTI for Windows, where the judges recorded through of mouse the perception of each stimuli inside function of time, for each sample. The parameters of T-I curves collected were: time for intensity maxim (TImax), intensity maxim (Imax), time of decay (Td), time of plato (Platô), area under curve (Area) and total time of stimuli duration (Ttot). The parameters Td, Ttot, Area e Plato of T-I curves, for stimuli sweet in both sweetness level, were significativelly superior for stevia, while Timax e Imax were significativelly inferior (p£0,05), at differences between value for both substances were superior DESS at 10%. Sucrose didn?t present any record for simuli bitter as 3 as 10%, while stevia presented a characteristic T-I curve with intensity and total time of stimuli duration dependent of concentration.

Avaliação da aceitação de vinhos brancos varietais brasileiros através de testes sensoriais afetivos e técnica multivariada de mapa de preferência interno

The acceptability of nine commercial brazilian varietal white table wines (Riesling, Chardonnay and Gewürztraminer) was evaluated using sensory affective tests. The samples were assessed by 43 consumers of brazilian white wines using he nine-point structured hedonic scale. Judges were recruited based on their responses to a questionnary about consumer?s behavior towards white wines consumption. Subsequently, Analysis of Variance (ANOVA) with means comparision (Tukey test) and Internal Analysis of Preference Mapping (MDPREF) were performed on data. Analysis of Variance showed that two samples (a Riesling and a Gewürztraminer, both sweet table wines) had significantly (p < 0.05) higher acceptance means, around 7 in the hedonic scale. The least acceptance means (4,3) was obtained by a demi-sec Chardonnay wine and the other six samples achieved means around 5 in the hedonic scale, all of them either demi-sec or dry table wines. MDPREF confirmed the results showed by ANOVA showing that samples were segmented into two groups of preference. The first group was composed by 86% of consumers who prefered the sweet table wines (higher acceptance), converging to the region on the map where these samples were represented. Only 14% showed preference for the demi-sec and dry table wines, being represented on the region of the MDPREF where these samples were located. This study suggests that sweet table wines are prefered by Brazilian consumers, instead of dry or demi-sec table wines.

Ocorrência de fungos filamentosos termo-resistentes em polpa de tomate envasada assepticamente

This work aimed at determining the occurrence of heat resistant molds during the aseptic processing of tomato pulp (8° BRIX). During tomato harvest, 9 lots were sampled (3 at the beginning, 3 at the apex and 3 at the end of harvest) and other 5 lots were sampled between harvest. For each lot, the enumeration of heat resistant molds was carried out in samples collected during the aseptic process. The mean count of heat resistant molds was relatively low, ranging from <1 to 8CFU/100mL of sample. The higher counts were observed in the raw material and the pre-wash and transportation water. Fifty strains of heat resistant molds detected in the enumeration procedure were isolated, codified and stocked. One-month-old spores of each isolate were submitted to different heat shocks to select the most heat resistant mold. The most heat resistant isolated strain (survived 100° C/25 minutes) was identified as Neosartorya fischeri.

Perfil sensorial de vinhos brancos varietais brasileiros através de análise descritiva quantitativa

Descriptive terminology and sensory profile of three varieties of brazilian varietal white wines (cultivars Riesling, Gewürztraminer and Chardonnay) were developed by a methodology based on the Quantitative Descriptive Analysis (QDA). The sensory panel consensually defined the sensory descriptors, their respective reference materials and the descriptive evaluation ballot. Ten individuals were selected as judges based on their discrimination, reproducibility and individual consensus with the sensory panel. Twelve descriptors were generated showing similarities and differences among the wine samples. Each descriptor was evaluated using a nine-centimeters non-structured scale with the intensity terms anchored at its ends. The collected data were analysed by ANOVA, Tukey test and Principal Component Analysis (PCA). The results showed a great difference within the sensory profile of Riesling and Gewürztraminer wines, whereas Chardonnay wines showed a lesser variation. PCA separated samples into two groups: a first group formed by wines higher in sweetness and fruitty flavor and aroma; and a second group of wines higher in sourness, adstringency, bitterness, alcoholic and fermented flavors.

Aspectos médicos e sociais no atendimento oftalmológico de urgência

Purpose: A survey was carried out on one hundred patients of the Emergency Service of the Ophthalmology Department of the Hospital das Clinicas of the University of Campinas (UNICAMP), in order to analyze the personal characteristics and the barriers against getting resolving ophthalmologic assistance. Variables, were the following: sex, age, home town, average distance between the place of initial symptoms and first visit to the hospital, time spent between the first examination (if performed in any other service) and the examination performed at the Hospital das Clinicas of University of Campinas, diagnosis, veracity of emergency, need to refer patients previously seen in other services to our Service and possibility of assistance and treatment at a secondary level. Methods: The sample showed the following characteristics: distances between 20 and 100 kilometers covered by 50.0% of the patients to be seen at University of Campinas. 75.0% of those patients needed someone to stay with them and 67.0% came from other municipalities. The long distances covered meant additional expenses for the treatment of diseases which should be treated locally. Results: Among the patients referred to University of Campinas by ophthalmologists of other services, 87.5% could have their diseases treated at a secondary level of assistance and 66.7% of real emergencies and 60% of false emergencies took longer than 7 days to reach the emergency room of University of Campinas. This shows the poor infrastructure of secondary services regarding excellence of emergency care and education of patients. Conclusions: We recommend education of general physicians and ophthalmologists for emergency eye care and also the supply of both secondary and tertiary public services or medicare, strategically setup in the whole state of Sao Paulo.