366 resultados para Adami, Zach


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We report a female child with tetrasomy of the 15q11-q13 chromosomal region, and autistic disorder associated with mental retardation, developmental problems and behavioral disorders. Combining classical and molecular cytogenetic approaches by fluorescence in situ hybridization technique, the karyotype was demonstrated as 47,XX,+mar.ish der(15)(D15Z1++,D15S11++,GABRB3++,PML-). Duplication of the 15q proximal segment represents the most consistent chromosomal abnormality reported in association with autism. The contribution of the GABA receptor subunit genes, and other genes mapped to this region, to the clinical symptoms of the disease is discussed.

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In a general way, in an electric power utility the current transformers (CT) are used to measurement and protection of transmission lines (TL) 1 The Power Line Carriers systems (PLC) are used for communication between electrical substations and transmission line protection. However, with the increasing use of optical fiber to communication (due mainly to its high data transmission rate and low signal-noise relation) this application loses potentiality. Therefore, other functions must be defined to equipments that are still in using, one of them is detecting faults (short-circuits) and transmission lines insulator strings damages 2. The purpose of this paper is to verify the possibility of using the path to the ground offered by the CTs instead of capacitive couplings / capacitive potential transformers to detect damaged insulators, since the current transformers are always present in all transmission lines (TL's) bays. To this a comparison between this new proposal and the PLC previous proposed system 2 is shown, evaluating the economical and technical points of view. ©2010 IEEE.

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Background. Hydatidiform mole (HM) is characterized by abnormal proliferation of human trophoblast with producers functioning tissues of human chorionic gonadotropin. It can evolve with ovarian cysts tecaluteínicos, hypertension of pregnancy or hyperthyroidism. The incidence of HM is variable and its etiology poorly known, associated with nutritional factors, environmental, age, parity, history of HM, oral contraceptives, smoking, consanguinity or defects in germ cells. There is no reference in literature on HM resulting from sexual violence, objective of this report. Method. Description of two cases of HM among 1146 patients with pregnancy resulting from sexual violence treated at Hospital Pérola Byington, São Paulo, from July 1994 to August 2011. Results. The cases affected young, white, unmarried, low educated and low parity women. Sexual violence was perpetrated by known offenders unrelated to the victims, under death threat. Ultrasound and CT of the pelvis showed bulky uterus compatible with HM without myometrial invasion. One case was associated with theca lutein cysts. The two cases were diagnosed in the second trimester of pregnancy and evolved with hyperthyroidism. There was no hypertension, disease recurrence, metastasis or sexually transmitted infection. Conclusion. The incidence of HM was 1:573 pregnancies resulting from rape, within the range estimated for Latin American countries. Trophoblastic material can be preserved to identify the violence perpetrator, considering only the paternal HM chromosomes. History of sexual violence should be investigated in cases of HM in the first half of adolescence and women in a vulnerable condition. © 2012 Drezzet et al; licensee BioMed Central Ltd.

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Background: Decreased heart rate variability (HRV) is related to higher morbidity and mortality. In this study we evaluated the linear and nonlinear indices of the HRV in stable angina patients submitted to coronary angiography. Methods. We studied 77 unselected patients for elective coronary angiography, which were divided into two groups: coronary artery disease (CAD) and non-CAD groups. For analysis of HRV indices, HRV was recorded beat by beat with the volunteers in the supine position for 40 minutes. We analyzed the linear indices in the time (SDNN [standard deviation of normal to normal], NN50 [total number of adjacent RR intervals with a difference of duration greater than 50ms] and RMSSD [root-mean square of differences]) and frequency domains ultra-low frequency (ULF) ≤ 0,003 Hz, very low frequency (VLF) 0,003 - 0,04 Hz, low frequency (LF) (0.04-0.15 Hz), and high frequency (HF) (0.15-0.40 Hz) as well as the ratio between LF and HF components (LF/HF). In relation to the nonlinear indices we evaluated SD1, SD2, SD1/SD2, approximate entropy (-ApEn), α1, α2, Lyapunov Exponent, Hurst Exponent, autocorrelation and dimension correlation. The definition of the cutoff point of the variables for predictive tests was obtained by the Receiver Operating Characteristic curve (ROC). The area under the ROC curve was calculated by the extended trapezoidal rule, assuming as relevant areas under the curve ≥ 0.650. Results: Coronary arterial disease patients presented reduced values of SDNN, RMSSD, NN50, HF, SD1, SD2 and -ApEn. HF ≤ 66 ms§ssup§2§esup§, RMSSD ≤ 23.9 ms, ApEn ≤-0.296 and NN50 ≤ 16 presented the best discriminatory power for the presence of significant coronary obstruction. Conclusion: We suggest the use of Heart Rate Variability Analysis in linear and nonlinear domains, for prognostic purposes in patients with stable angina pectoris, in view of their overall impairment. © 2012 Pivatelli et al.; licensee BioMed Central Ltd.

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In this paper a new parasitoid Megastigmus Dalman, 1820 (Hymenoptera: Chalcidoidea: Torymidae: Megastigminae) species was described in the subgenus Torymus, associated with the gall-forming Leptocybe invasa Fisher & La Salle (Hymenoptera: Eulophidae) in eucalypt plantations in Brazil.

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Background: The literature has already demonstrated that cigarette influences the cardiovascular system. In this study, we performed a literature review in order to investigate the relationship between sidestream cigarette smoke (SSCS) and cardiac autonomic regulation. Methods. Searches were performed on Medline, SciELO, Lilacs and Cochrane databases using the crossing between the key-words: cigarette smoking, autonomic nervous system, air pollution and heart rate variability. Results: The selected studies indicated that SSCS exposure affects the sympathetic and parasympathetic responses to changes in arterial blood pressure. Moreover, heart rate responses to environmental tobacco smoke are increased in smokers compared to non-smokers. The mechanism involved on this process suggest increased oxidative stress in brainstem areas that regulate the cardiovascular system. Conclusion: Further studies are necessary to add new elements in the literature to improve new therapies to treat cardiovascular disorders in subjects exposed to sidestream cigarette smoke. © 2013 Valenti et al; licensee BioMed Central Ltd.

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Background: Osteoporosis is a disease of bone metabolism in which bisphosphonates (BPS) are the most common medications used in its treatment, whose main objective is to reduce the risk of fractures. The aim of this study was to conduct a systematic review on BPs adherence for treatment of osteoporosis. Methods. Systematic review of articles on BPs adherence for treatment of osteoporosis, indexed on MEDLINE (via PubMed) databases, from inception of databases until January 2013. Search terms were Adherence, Medication (MeSH term), Bisphosphonates (MeSH term), and Osteoporosis (MeSH term). Results: Of the 78 identified studies, 27 met the eligibility criteria. Identified studies covered a wide range of aspects regarding adherence and associated factors, adherence and fracture, adherence and BPs dosage. The studies are mostly observational, conducted with women over 45 years old, showing low rates of adherence to treatment. Several factors may influence adherence: socio-economic and cultural, participation of physicians when guidance is given to the patient, the use of bone turnover markers, and use of generic drugs. The monthly dosage is associated with greater adherence compared to weekly dosage. Conclusions: Considering the methodological differences between the studies, the results converge to show that adherence to treatment of osteoporosis with BPs is still inadequate. Further experimental studies are needed to evaluate the adherence and suggest new treatment options. © 2013 Vieira et al.; licensee BioMed Central Ltd.

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Background: The aim of this study was to identify dietary strategies for physically active individuals with muscle dysmorphia based on a systematic literature review. Method. References were included if the study population consisted of adults over 18 years old who were physically active in fitness centers. We identified reports through an electronic search ofScielo, Lilacs and Medline using the following keywords: muscle dysmorphia, vigorexia, distorted body image, and exercise. We found eight articles in Scielo, 17 in Medline and 12 in Lilacs. Among the total number of 37 articles, only 17 were eligible for inclusion in this review. Results: The results indicated that the feeding strategies used by physically active individuals with muscle dysmorphia did not include planning or the supervision of a nutritionist. Diet included high protein and low fat foods and the ingestion of dietary and ergogenic supplements to reduce weight. Conclusion: Physically active subjects with muscle dysmorphia could benefit from the help of nutritional professionals to evaluate energy estimation, guide the diet and its distribution in macronutrient and consider the principle of nutrition to functional recovery of the digestive process, promote liver detoxification, balance and guide to organic adequate intake of supplemental nutrients and other substances. © 2013 Contesini et al.; licensee BioMed Central Ltd.

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Background: The Stroke remains one of the major chronic diseases worldwide, and is considered a major cause of disability, which results not only in persistent neurological deficits, but also in the high physical deconditioning, nevertheless there are not many forms of assessing functional capacity in this population. We aimed to investigate the feasibility of the Six Minute Walk Teste and the Six-Minute Step Test (6MST) in post-stroke patients and compare the behavior of physiological variables during the 6MST and the Six-Minute Walk Test (6MWT), by correlating the functional performance obtained in both tests. Method. The 6MWT was carried out according to the American Thoracic Society (ATS) and the 6MST was performed in six minutes in order to compare it to the 6MWT in a 20 cm step. Was included post-stroke individuals able to walk without aid. All of them did the 6MWT and the 6MST. Results: 12 patients participated in the study. There was no statistical difference in the parameters analyzed when tests were compared. There was poor correlation between the functional performance in both tests. Conclusion: The 6MWT and the 6MST is feasible for post-stroke patients and physiological responses are equal during the performance of both tests. However, there was no correlation with respect to functional performance, which was assessed by the distance walked in the 6MWT and by the number of steps climbed in the 6MST. © 2013 da Silva et al.; licensee BioMed Central Ltd.

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Brazil is a major sugarcane producer and São Paulo State cultivates 5.5 million hectares, close to 50% of Brazil's sugarcane area. The rapid increase in production has brought into question the sustainability of biofuels, especially considering the greenhouse gas (GHG) emissions associated to the agricultural sector. Despite the significant progress towards the green harvest practices, 1.67 million hectares were still burned in São Paulo State during the 2011 harvest season. Here an emissions inventory for the life cycle of sugarcane agricultural production is estimated using IPCC methodologies, according to the agriculture survey data and remote sensing database. Our hypothesis is that 1.67 million hectares shall be converted from burned to green harvest scenarios up to years 2021 (rate 1), 2014 (rate 2) or 2029 (rate 3). Those conversions would represent a significant GHG mitigation, ranging from 50.5 to 70.9 megatons of carbon dioxide equivalent (Mt CO2eq) up to 2050, depending on the conversion rate and the green harvest systems adopted: conventional (scenario S1) or conservationist management (scenario S2). We show that a green harvest scenario where crop rotation and reduced soil tillage are practiced has a higher mitigation potential (70.9 Mt CO2eq), which is already practiced in some of the sugarcane areas. Here we support the decision to not just stop burning prior to harvest, but also to consider other better practices in sugarcane areas to have a more sustainable sugarcane based ethanol production in the most dense cultivated sugarcane region in Brazil. © 2013 Elsevier Ltd. All rights reserved.

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)

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Background: We aimed to estimate the median ages at specific stages of sexual maturity stratified by excess weight in boys and girls.Materials and method: This was a cross-sectional study made in 2007 in Florianopolis, Brazil, with 2,339 schoolchildren between 8 to 14 years of age (1,107 boys) selected at random in two steps (by region and type of school). The schoolchildren were divided into: i) those with excess weight and ii) those without excess weight, according to the WHO 2007 cut-off points for gender and age. Sexual maturity was self-evaluated by the subjects according to the Tanner sexual development stages, and utilizing median ages for the genitalia, breasts, and pubic hair stages.Results: In the boys with excess weight, precocity was observed in the stages 4 for genitals and pubic hair and 2 for pubic hair, with the values for excess and normal weight. The median ages at the beginning of puberty (stage 2-sexual development) for boys and girls in Florianopolis were 10.8 and 10.3 years, respectively.Conclusion: Excess weight is associated with lower median ages in the sexual maturity stages in boys and girls and that it should be taken into account when evaluating sexual maturity in children and adolescents.