968 resultados para Predisposição genética para doença


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INTRODUÇÃO: A transfusão sanguínea é uma fonte potencial importante para transmissão da doença de Chagas. MÉTODOS: Foi verificado, nos arquivos do Hemonúcleo Regional de Araraquara, o resultado dos exames para doença de Chagas entre janeiro de 2004 e dezembro de 2008. RESULTADOS: Foram diagnosticadas com sorologia positiva 0,04% das 49541 doações de sangue realizadas. A idade dos soropositivos situou-se entre 51 e 60 anos. CONCLUSÕES: O baixo índice de doadores soropositivos pode reduzir o risco de transmissão via transfusional da doença de Chagas. A alta ocorrência de resultados inconclusivos indicam que os métodos diagnósticos devem ser melhorados.

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The objective of this work was to analyze the morphological, morphometrical, and histological characteristics of eggs of four triatomine bugs species still not studied, in order to understand phylogenetic aspects and to facilitate parameters used in taxonomy, with the purpose of a specific and generic characterization of these vectors in public health. The eggs of each species had come from the collections of the Laboratory of Triatomine bugs and Culicid mosquitoes of the Faculdade de Saúde Pública - USP (Faculty of Public Health/USP). The morphologic studies were carried out through optic microscopy (OM) and scanning electronic microscopy (SEM). The eggs were measured with the help of the digital paquimeter Starrett® 727. In relation to histological measures, Microtome Leica RM 2145® was used. Similarities were evidenced in the exocorial architecture of the eggs when they were studied by OM and SEM. This similarity among the eggs suggests a recent speciation, probably derived from common ancestry, representing a monophyletic group. Some structures were also detected by the histological cuts. The study has contributed to the magnification and recognition in generic and specific terms of the Triatominae subfamily. These new data will be able to subsidize a better understanding to determine roles for each vector species and to facilitate parameters to be used in taxonomy.

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INTRODUCTION: Cardiac and pulmonary manifestations of the Chagas disease (CD) affect between 20-30% of the infected subjects. The chronic Chagas cardiomyopathy (CCC) has some peculiarities such as arrhythmias and, especially heart failure (HF) and is potentially lethal due to left ventricular dysfunction. How respiratory disorders, patients get progressive loss of functional capacity, which contributes to a poor quality of life related to disease. Measurements of lung volume by the movement of the chest wall surface are an alternative evaluation of lung function and kinematics of complex thoracoabdominal for these patients. OBJECTIVE: evaluate the kinematics of the thoracoabdominal complex through the regional pulmonary volumes and to correlate with functional evaluation of the cardiorrespiratory system in patients with Chagas disease at rest. MATERIALS AND METHODS: a cross-section study with 42 subjects had been divided in 3 groups, 15 composed for patients with CCC, 12 patients with HF of different etiologies and 15 healthful presented control group. An optoelectronic plethysmography (POE), Minnesota questionnaire, six minute walk test, spirometer and manovacuometer was used. RESULTS: It was observed in the 6MWT where group CRL presented greater distance 464,93±44,63m versus Group HF with 399,58± 32,1m (p=0,005) and group CCC 404±68,24m (p=0,015), both the groups presented difference statistics with regard to Group CRL. In the manovacuometer 54,59±19,98; of the group CCC and 42,11±13,52 of group IC found group CRL presented 81,31±15,25 of the predicted versus, presenting in relation to group CRL. In the POE it observed a major contribution in abdominal compartment in patients with IC if compared like CCC and control groups. On the basis of the questionnaire of quality of life of Minessota, verified a low one groups CCC and IC 43,2±15,2 and 44,4±13,1, respectively (p<0,05) when compared with the control group (19,6±17,31). CONCLUSION: it seems that the patients with CCC possess same functional and respiratory characteristics, observed for the POE, 6MWT, manovacuometer and spirometer to the patients of group HF, being able to consider similar interventions for this complementary group as therapeutical of this neglected disease

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Introduction: The intrinsic gait disorders in individuals with Parkinson's disease (PD) are one of the most disabling motor symptoms. Among the therapeutic approaches used in attempts to improve the motor function, especially the gait pattern of individuals, stands out the treadmill gait training associated with the addition of load. However, there are few findings that elucidate the benefits arising from such practice. Objective: To assess the effects of adding load on the treadmill gait training in individuals with PD. Material and Methods: A controlled, randomized and blinded clinical trial, was performed with a sample of 27 individuals (18 men and 9 women) with PD, randomly assigned to three experimental conditions, namely: treadmill gait training (n=9), treadmill gait training associated with addition of 5% load (n=9) and treadmill gait training associated with addition of 10% load (n=9). All volunteers were assessed, during phase on of Parkinson's medication, regarding to demographic, clinical and anthropometric (identification form) data, level of disability (Hoehn and Yahr Modified Scale), cognitive function (Mini Mental State Examination), clinical functional - in those areas activity of daily living and motor examination (Unified Parkinson's Disease Rating Scale - UPDRS) and gait cinematic analysis was performed through Qualisys Motion Capture System®. The intervention protocol consisted of gait training in a period of 4 consecutive weeks, with three weekly sessions, lasting 30 minutes each. The post-intervention assessment occurred the next day after the last training session, which was performed cinematic analysis of gait and the UPDRS. Data analysis was performed using the software Statistical Package for Social Sciences® (SPSS) 17.0. Results: The age of volunteers ranged from 41 to 75 years old (62,26 ± 9,07) and the time of clinical diagnosis of PD between 2 to 9 years (4,56 ± 2,42). There was a reduction regarding the score from motor exam domain (p=0,005), only when training with the addition of a 5% load. As for the space-time variables there was no significant difference between groups (p>0,120); however, the training with addition of 5% load presented the following changes: increase in stride length (p=0,028), in step length (p=0,006), in time balance of the most affected member (p=0,006) and reduction in support time of the referred member (p=0,007). Regarding angular variables significant differences between groups submitted to treadmill gait training without addition load and with 5% of load were observed in angle of the ankle at initial contact (p=0,019), in plantar flexion at toe-off (p=0,003) and in the maximum dorsiflexion in swing (p=0,005). While within groups, there was a reduction in amplitude of motion of the ankle (p=0,048), the only workout on the treadmill. Conclusion: The treadmill gait training with addition of 5% load proved to be a better experimental condition than the others because it provided greater gains in a number of variables (space-time and angular gait) and in the motion function, becoming a therapy capable of effectively improving the progress of individuals with PD

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Diabetes Mellitus (DM) affected approximately 171 million people in the world in the year 2000 as described by the World Health Organization (WHO). Because DM is a multisystem disease it can cause several complications especially those related to the cardiovascular system. The Peripheral Arterial Disease (PAD) of the lower limbs and the Diabetic Distal Symmetric Polyneuropathy (DDSP) can affect the DM patient causing consequences as the diabetic foot and eventually amputations. The main objective of this study was to determine the prevalence of PAD and sensorial impairment in 73 type 2 DM (DM2) patients and also assess the impact of PAD on quality of life, level of physical activity and body composition. For clinical assessment it was used: the ankle-brachial index (ABI); quantitative sensorial test for tactile sensibility (ST), pain (SD), vibration (SV); Achilles tendon reflex (RA); quality of life questionnaire (SF-36); modified Baecke physical activity questionnaire and bioelectric impedance. Prevalence of PAD in the studied population was 13.7%. ABI was inversely correlated to age (p=0,03; rhô= -0,26), diabetes duration (p=0,02; rhô= -0,28) and blood pressure (p= 0,0007; rhô= -0,33). There were lower scores for physical health summary on the SF-36 in DM2 patients; however, the presence of PAD predominantly mild did not significantly impact quality of life, body composition or physical activity level assessed by questionnaire. Fourteen patients (19.2%) present bilateral and symmetrical alterations in two or more sensorial tests compatible to DPN diagnosis. Abnormalities in ST, SD and SV were present in 27.3%, 24.6% and 8.2%; respectively. There was association of results from ST abnormalities with RA and mainly with SD, suggesting the importance of 10g monofilament use in DM2 routine assessment. In conclusion, the prevalence of PAD in subclinical DM2 was slightly higher compared to the general population and in agreement to previously published data in DM patients. The PAD severity was predominantly mild and still without repercussion on quality of life and body composition. Our study demonstrated a significant prevalence of both PAD and DPN in DM2 without previous diagnosis of these complications and indicates the necessity of early preventive and therapeutic interventions for this population

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Pulmonary Rehabilitation, especially due to aerobic exercise, positive impact in reducing morbidity/mortality of patients with COPD, however the economic impact with costs of implementing simple programs of aerobic exercise are scarce. This is a blind randomized clinical trials, which aimed to evaluate the costs and benefits of a simple program of aerobic exercise in individuals with COPD, considering the financial costs of the Public Health System and its secondary endpoints. We evaluated lung function, the distance walked during six minutes of walking, the respiratory and peripheral muscle strength, quality of life related to health (QLRH), body composition and level of activity of daily living (ADL) before and after eight weeks of an aerobic exercise program consisting of educational guidance for both groups, control and intervention and supervised walks to the intervention group. The health costs generated in both groups were calculated following table Brazilian Public Health System. The sample consisted of forty patients, two being excluded in the initial phase of desaturation during the walk test six minutes. Were randomized into control and intervention group thirty-eight patients, three were excluded from the control group and one was excluded from the intervention group. At the end, thirty-four COPD comprised the sample, 16 in the control group and 18 in the intervention group (FEV1: 50.9 ± 14% pred and FEV1: 56 ± 0.5% pred, respectively). After for intervention, the intervention group showed improvement in meters walked, the sensation of dyspnea and fatigue at work, BODE index (p <0.01) in QLRH, ADL level (p <0.001) as well as increased strength lower limbs (p <0.05). The final cost of the program for the intervention group was R $ 148.75, including: assessments, hiking supervised by a physiotherapist and reassessments. No patient had exacerbation of IG, while 2 patients in the CG exacerbated, generating an average individual cost of R $ 689.15. The aerobic exercises in the form of walking showed significant clinical benefits and economic feasibility of its implementation, due to low cost and easy accessibility for patients, allowing them to add their daily practice of aerobic exercises

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Background: The gait automaticity loss difficults realization of concurrent activities - Dual Task (DT). In these situations, individuals with Parkinson`s disease (PD) show a significant reduction in gait velocity and stride length, as strides variability and asymmetry increased, factors predisposing to falls. However, recent studies have shown that training involving DT may cause subsequent improvements in gait variables with DT in individuals with PD. The treadmill use was adopted by this study, by promoting greater regularity in step and enhance training. Objective:To investigate immediate effects of gait training associated with cognitive tasks on gait in individuals with PD. Methods: Twenty-two volunteers were randomly divided into two groups: control group (n = 11), who performed gait training on a treadmill for 20 minutes, and the experimental group (n = 11), who performed treadmill gait training for 20 minutes associated with cognitive tasks of verbal fluency, memory, and spatial planning. Participants were evaluated in phase on of antiparkinsonian medication as the demographic, clinical and anthropometric (identification form), cognitive status (Montreal Cognitive Assessment - MoCA), executive function (Frontal Assessment Battery), level of physical disability (Hoehn and Yahr Modified), motor and functional status (Unified Rating Scale for Parkinson`s Disease - UPDRS), and kinematics (Qualisys Motion Capture System). Results: There were not differences between groups, but both showed improvement after the intervention. The control group had an increase in velocity (p = 0.008), stride length (p = 0.04), step length (p = 0.02) and decreased double support time(p = 0.03). The experimental group showed an increase in speed (p = 0.002), stride length (p = 0.008), step length (p = 0.02) and cadence (p = 0.01), as well as a decrease in the width stride (p = 0.001) and total support time (p = 0.02). As the angular variables, the experimental group had a significant increase in the initial contact angle of ankle (p = 0.01). Conclusion: The gait training combined with cognitive activities didn`t provide significant improvements in gait variables with DT, but this study was the first to demonstrate that gait training on treadmill as simple task minimized the negative interference of DT in PD

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

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Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

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Bacterial meningitis (BM) is still an important infectious disease causing death and disability. Invasive bacterial infections of the central nervous systems (CNS) generate some of the most powerful inflammatory responses known, which contributes to neuronal damage. The DNA microarray technology showed alterations in the kynurenine (KYN) pathway that is induced in BM and other diseases associated with inflammation, leading to brain injury. Our main aim was to search SNPs previously described in the KYN path enzymes to investigate a putative association of this SNPs with imbalanced in this pathway in patients with BM. The patients included in this study were 33 males and 24 females, with ages varying from 02 months to 68 years. SNPs were located inside of the domain conserved in KYNU, IDO, KATI and KATII. Primers were designed for analysis of SNPs already described by PIRA-PCR followed by RFLP. The analysis of KYNU+715G/A SNP found a heterozygous frequency of 0.033. We did not found the variant allele of SNP KYNU+693G/A, KATI+164T/C, KATII+650C/T and IDO+434T/G. Despite of previews studies showing the importance of KYN pathway we did not found one association of these SNPs analyzed with susceptibility or severity of MB in study population.

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The fauna of Brazilian reef fishes comprises approximately 320 species distributed along the coast of the mainland and islands ocean. Little is known about the levels of connectivity between their populations, but has been given the interest in the relations between the offshore and the islands of the Brazil, in a biogeographical perspective. The oceanic islands Brazilian hosting a considerable number of endemic species, which are locally abundant, and divide a substantial portion of its reef fish fauna with the Western Atlantic. Among the richest families of reef fish in species are Pomacentridae. This study analyzed through analysis of sequences of the mitochondrial DNA control region (D-loop), the standards-breeding population of C. Multilineata in different areas of the NE coast of Brazil, involving both oceanic islands (Fernando de Noronha Archipelago and of St. Peter and St. Paul) and continental shelf (RN and BA). To this aim, partial sequences were used in the region HVR1 of mtDNA (312pb). The population structure and parameters for the estimates of genetic variability, molecular variance (AMOVA), estimation of the index for fixing (FST) and number of migrants were determined. The phylogenetic relationships between the populations were estimated using neighbor-joining (NJ) method. A group of Bayesian analysis was used to verify population structure, according to haplotype frequency of each individual. The genetic variability of populations was extremely high. The populations sampled show moderate genetic structure, with a higher degree of genetic divergence being observed for the sample of the Archipelago of St. Peter and St. Paul. At smaller geographical scale, the sample of Rio Grande do Norte and the Archipelago of Fernando de Noronha do not have genetic differentiation. Three moderately differentiated population groups were identified: a population group (I), formed by the Rio Grande do Norte (I') and the archipelago of Fernando de Noronha (I''), and two other different groups formed by the island population of the archipelago of Saint Peter and St. Paul (II) and Bahia (III). The genetic patterns found suggest that the species has suffered a relatively recent radiation favoring the absence of shared haplotypes. C. multilineata seems to constitute a relatively homogenous population along the West Atlantic coast, with evidence of a moderate population genetic structure in relation to the Archipelago of St. Peter and St. Paul. These data supports the importance of the dispersal larvae by marine current and the interpopulation similarity this species.

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Despite advances in vaccine development and therapy, bacterial meningitis (BM) remains a major cause of death and long-term neurological disabilities. As part of the host inflammatory response to the invading pathogen, factors such as reactive oxygen species are generated, which may damage DNA and trigger the overactivation of DNA repair mechanisms. It is conceivable that the individual susceptibility and outcome of BM may be in part determined by non synonymous polymorphisms that may alter the function of crucial BER DNA repair enzymes as PARP-1, OGG-1 and APE-1. These enzymes, in addition to their important DNA repair function, also perform role of inflammatory regulators. In this work was investigated the non synonymous SNPs APE-1 Asn148Glu, OGG-1 Ser326Cys,PARP-1 Val762Ala, PARP-1 Pro882Leu and PARP-1 Cys908Tyr in patients with bacterial meningitis (BM), chronic meningitis (CM), aseptic meningitis (AM) and not infected (controls). As results we found increased frequency of variant alleles of PARP-1 Val762Ala (P = 0.005) and APE-1 Asn148Glu (P=0.018) in BM patients, APE-1 Asn148Glu in AM patients (P = 0.012) and decrease in the frequency of the variant allele OGG-1 Ser326Cys in patients with CM (P = 0.013), regarding the allelic frequencies in the controls. A major incidence of individuals heterozygous and/ or polymorphic homozygous in BM for PARP-1 Val762Ala (P= 0.0399, OD 4.2, 95% IC 1.213 -14.545) and PARP-1 Val762Ala/ APE-1 Asn148Glu (P = 0.0238, OD 11.111, 95% IC 1.274 - 96.914) was observed related to what was expected in a not infected population. It was also observed a major incidence of combined SNPs in the BM patients compared with the control group (P=0.0281), giving evidences that SNPs can cause some susceptibility to the disease. This combined effect of SNPs seems to regulate the principal cytokines and other factors related to BM inflammatory response and point the importance of DNA repair not only to repair activity when DNA is damaged, but to others essential functions to human organism balance.

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Brazil is one of the major centers of diversity for polyploid cotton plants; these plants belong to the genus Gossypium, which has three known species: G. hirsutum, G. barbadense and G. mustelinum. The Northeast is the only region where the three species occur, the last group being endemic. Northeast s cotton plants can be important sources of variability for genetic breeding. It is believed that great part of local diversity is being lost, due to economic, political, cultural and agricultural problems. In an attempt to mitigate this loss and delineate conservation strategies it is necessary to know how the species are found where they occur. The objective was to characterize and determine how plants are maintained in situ in the states of Maranhão, Piauí, Ceará, Rio Grande do Norte and Paraíba at the beginning of the XXI century. The in situ characterization of G. hirsutum and G. barbadense was conducted through structured interviews with the cotton plants owners and through the analysis of the environment. The data were collected during expeditions undertaken between the years 2004 to 2005. Twenty-two plants were collected in the state of Paraíba, forty-four in the state of Rio Grande do Norte, one hundred and forty-six in the state of Ceará, forty in the state of Maranhão and ninety-one plants in the state of Piauí. All plants collected in the states of Paraíba and Rio Grande do Norte belonged to moco type. Moco cotton plants also predominated in the other states, representing 92%, 62% and 78% of plants collected in Ceará, Piauí and Maranhão, respectively. The other cotton plants collected belong to the species G. barbadense. The cotton plants were found in situ as dooryard plants, roads side, feral populations, cultivation or local varieties. Great part were dooryard plants (45.2%), being major in Piauí and Maranhão. Cultivation predominated in Ceará; in Rio Grande do Norte feral populations were the most frequent and, in Paraíba, local varieties. The maintenance of moco plants is related, mainly, to the phytotherapic domestic use (20.9%) and to confection of lamp wicks (29.7%). Few inhabitants in Paraíba, Rio Grande do Norte, Piauí and none in Maranhão used harvest the plants, storage the seeds or gin; however, in Ceará, 40.5% of owners affirmed that they harvested and commercialized the fiber. It was found that the maintenance of species is dependent of the fragile cultural habits of local inhabitants, therefore the maintenance in situ is not a suitable way to conservation of genetic resources. The efforts must be directed to the continuity of collections, maintenance and characterization ex situ

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Gossypium mustelinum Miers ex Watt is the only cotton species native from Brazil. It is endemic of the semi-arid region from North-east of the country, where it occur near from resilient water sources. The threats to the in situ conservation of the populations are caused by human interference in its habitat, mainly by excessive cattle graze and deforestation. Establish efficient strategies of in situ conservation depend on the accomplishment of a diagnosis of how the specie is found in its natural environment, and the knowledge about the genetic structure of the populations. The objectives of this work were i) to determine the in situ conditions of two populations present in rivers from basin of Rio Paraguaçu at the Bahia State, ii) to evaluate the structure and genetic variability presented in both populations, iii) to establish in situ and ex situ conservation strategies. It were realized collection in november 2007, when was realized in situ characterization of G. mustelinum. SSR markers were used for analyze 218 genotypes deriving from two populations of the G. mustelinum, localized at Tocó river and the Capivara river. The allelic frequencies, the heterozigosity and the F statics were estimated. All the plants were classified as wild and natives, and there was no evidence of the use the plants or its parts. The populations showed different conservation conditions in situ. Few plantlets were found in sites with excessive cattle feed, an indication that the damages in young plants should be high enough to compromise the renovation of the populations. On the other hand, populations were well preserved when the anthropic damages was low or inexistent. The 14 SSR primer pairs amplified 17 loci with a medium number of 5 alleles per locus (a total of 85 alleles). The high level of endogamy estimated (FIS=0,808) and the low observed heterozygosity (H0=0,093) were indicatives that the populations reproduce mainly by selfing, geitonogamy and crosses between related individuals. The genetic diversity was high (HE=0,482) and the differentiation between the populations was very high (FST=0,328). At least two sites from both populations of G. mustelinum must be preserved to achieve suitable in situ conservation. Actions that preserve the gallery forest and keep the cattle away should implemented, and could be as simple as erecting a fence. It is not possible anticipated if the in situ preservation will be possible. Therefore collections and ex situ preservation of representative specimens are essential to conserve the genetic diversity of native G. mustelinum

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Brazil has been considered one of the diversity centers of Gossypium barbadense species. It is believed that a relatively big erosion genetic process occurs with the species, due to economic, cultural and agricultural problems. A local diagnostic about species situation is the first step for reducing the diversity loss and establishing conservation strategies in situ. This research aimed the identification of the presence of Gossypium populations, characterization, determination of the main risks and collection of the accesses to store in germoplam banks, in Para and Amapa States. Expeditions were conducted in November 2004. An interview was carried out with the plant proprietor for characterizing in situ of G. barbadense species and of the environment where the plants were inserted. On hundred seventy nine plants in 22 municipal districts were collected in Para State and 117 plants in nine municipal districts in Amapa State. The majority of plants belong to G. barbadense species (98% in Amapa and 94% in Para). Plants occur in back yards, beside roads and spontaneously. That ones from back yards were more abundant (97% in Amapa and 95% in Para) and maintained as medicinal plants as the principal reason. Plants in natural environments in both states evaluated were not found, therefore, the creation of reserves and the application of others conventional methods of maintenance in situ are not applicable. The plant proprietors do not use to store or process seeds. Seed storage was reported as a practice by only 1% of the plant proprietors from Para and 11% from Amapa. The most plants collected were from two to three years of age (58% in Amapa and 93% in Para). As conclusions G. barbadense is the species most spread in the two studied states and are found in back yards. In Amapa State the botanical variety barbadense or Quebradinho is predominant, whereas in Para State the predominant variety is brasiliense or Rim-de-boi. Adequate conservation of thestudied species must be carried out in germoplasm collections maintained ex situ