947 resultados para exome capture
Resumo:
Thanks to decades of research, gait analysis has become an efficient tool. However, mainly due to the price of the motion capture systems, standard gait laboratories have the capability to measure only a few consecutive steps of ground walking. Recently, wearable systems were proposed to measure human motion without volume limitation. Although accurate, these systems are incompatible with most of existing calibration procedures and several years of research will be necessary for their validation. A new approach consisting of using a stationary system with a small capture volume for the calibration procedure and then to measure gait using a wearable system could be very advantageous. It could benefit from the knowledge related to stationary systems, allow long distance monitoring and provide new descriptive parameters. The aim of this study was to demonstrate the potential of this approach. Thus, a combined system was proposed to measure the 3D lower body joints angles and segmental angular velocities. It was then assessed in terms of reliability towards the calibration procedure, repeatability and concurrent validity. The dispersion of the joint angles across calibrations was comparable to those of stationary systems and good reliability was obtained for the angular velocities. The repeatability results confirmed that mean cycle kinematics of long distance walks could be used for subjects' comparison and pointed out an interest for the variability between cycles. Finally, kinematics differences were observed between participants with different ankle conditions. In conclusion, this study demonstrated the potential of a mixed approach for human movement analysis.
Resumo:
We studied the ectoparasitic bat flies of three phyllostomid vampire bat species. Bats were collected monthly from April 2004-March 2005 in caves within the Cafuringa Environmental Protection Area in the Federal District of Brazil. A total of 1,259 specimens from six species in the Streblidae family were collected from 332 bats. High host affinity from the sampled bat fly species and high prevalence of bat flies confirms the primary fly-host associations (Strebla wiedemanni, Trichobius parasiticus and Trichobius furmani with Desmodus, Trichobius diaemi and Strebla diaemi with Diaemus and T. furmani with Diphylla). Male flies outnumbered females in several associations. Some of the observed associations (e.g., Strebla mirabilis with Desmodus and S. mirabilis, Trichobius uniformis and S. wiedemanni with Diphylla) were inconclusive and the causes of the associations were unclear. There are several explanations for these associations, including (i) accidental contamination during sampling, (ii) simultaneous capture of several host species in the same net or (iii) genuine, but rare, ecological associations. Although various species of vampire bats share roosts, have similar feeding habits and are close phylogenetic relatives, they generally do not share ectoparasitic streblid bat flies. T. diaemi and S. diaemi associations with Diaemus youngi have not been previously reported in this region.
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Phlebotomine captures were performed in February 2010 in Salto (Salto department) and Bella Unión-Cuarein (Artigas department), Uruguay. Bella Unión is located across the Paraná River from Monte Caseros, Argentina, where a focus of canine visceral leishmaniasis (VL) was reported in 2009. No VL cases have ever been recorded in Uruguay and the last reported capture of Phlebotominae was in 1932 (Lutzomyia cortelezzii and Lutzomyia gaminarai). Light traps were placed in peridomestic environments, and Lutzomyia longipalpis, the main vector of visceral leishmaniasis, was found in Salto and Bella Unión. This is a first report of an area of potential VL transmission in Uruguay. Active and coordinated surveillance is required immediately the Uruguay-Argentina-Brazil border area.
Resumo:
The major active retinoid, all-trans retinoic acid, has long been recognized as critical for the development of several organs, including the eye. Mutations in STRA6, the gene encoding the cellular receptor for vitamin A, in patients with Matthew-Wood syndrome and anophthalmia/microphthalmia (A/M), have previously demonstrated the importance of retinol metabolism in human eye disease. We used homozygosity mapping combined with next-generation sequencing to interrogate patients with anophthalmia and microphthalmia for new causative genes. We used whole-exome and whole-genome sequencing to study a family with two affected brothers with bilateral A/M and a simplex case with bilateral anophthalmia and hypoplasia of the optic nerve and optic chiasm. Analysis of novel sequence variants revealed homozygosity for two nonsense mutations in ALDH1A3, c.568A>G, predicting p.Lys190*, in the familial cases, and c.1165A>T, predicting p.Lys389*, in the simplex case. Both mutations predict nonsense-mediated decay and complete loss of function. We performed antisense morpholino (MO) studies in Danio rerio to characterize the developmental effects of loss of Aldh1a3 function. MO-injected larvae showed a significant reduction in eye size, and aberrant axonal projections to the tectum were noted. We conclude that ALDH1A3 loss of function causes anophthalmia and aberrant eye development in humans and in animal model systems.
Field optimisation of MosquiTRAP sampling for monitoring Aedes aegypti Linnaeus (Diptera: Culicidae)
Resumo:
A sticky trap designed to capture gravid Aedes (Stegomyia) aegypti mosquitoes, MosquiTRAP, has been evaluated for monitoring this species in Brazil. However, the effects of trap densities on the capture rate of Ae. aegypti females and the sensitivity of vector detection are still unknown. After a preliminary study has identified areas of high and low female mosquito abundance, a set of experiments was conducted in four neighbourhoods of Belo Horizonte (state of Minas Gerais, Brazil) using densities of 1, 2, 4, 8, 16, 32 and 64 traps per block. Trap sensitivity (positive MosquiTRAP index) increased significantly when 1-8 MosquiTRAPs were installed per block in both high and low abundance areas. A strong fit was obtained for the total number of mosquitoes captured with increasing trap densities through a non-linear function (Box-Lucas) (r² = 0,994), which likely exhibits saturation towards an equilibrium level. The capacity of the Mean Female Aedes Index to distinguish between areas of high and low Ae. aegypti abundance was also investigated; the achieved differentiation was shown to be dependent on the MosquiTRAP density.
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Approximately 30% of patients with follicular lymphoma (FL) transform to a more aggressive malignancy, most commonly diffuse large B cell lymphoma. Rarely, FL transformation results in clinical findings, histology, and immunophenotype reminiscent of B-lymphoblastic leukemia/lymphoma. We report the largest series to date with detailed analysis of 7 such patients. Lymphoblastic transformation occurred on average 2 years after initial diagnosis of FL. Five patients had prior intensive chemotherapy. Two patients developed mature high-grade lymphoma, followed by the lymphoblastic transformation. FL had BCL2 gene rearrangement in 4 of 5 cases. High-grade transformation was accompanied by MYC gene rearrangement (5 of 5). Transformation was characterized by expression of TdT, loss of Bcl6, variable loss of immunoglobulin light chain, and persistence of Pax-5, Bcl2, and CD10. Whole-exome sequencing in 1 case revealed presence of several actionable mutations (CD79B, CCND3, CDK12). FL, aggressive mature B cell lymphoma, and lymphoblastic transformation were clonally related in 6 evaluable cases. After transformation, survival ranged from 1 to 14 months. Four patients died of disease, 2 were in remission after stem cell transplant, and 1 was alive with disease.
Resumo:
The detection of anti-hepatitis A virus (HAV) antibody levels by diagnostic kits in the convalescent period of disease generally use immunoglobulin G (IgG), which is expensive. An alternative to IgG is immunoglobulin Y (IgY), an immunoglobulin antibody encountered in birds and reptiles. The aim of this study was to develop a competitive immunoenzymatic assay to measure total anti-HAV antibody levels using anti-HAV IgY as the capture and conjugated immunoglobulins. For this purpose, anti-HAV IgY was conjugated to horseradish peroxidase (HRP) and the optimal dilution of HRP-conjugated antibodies was evaluated to establish the competitive immuneenzymatic assay. The results obtained from our "in-house" assay were plotted on a receiver operator curve, which showed a sensitivity of 95% and a specificity of 98.8%, demonstrating that a competitive anti-HAV IgY immunoenzymatic assay developed "in house" could be used as an alternative to commercial assays that utilise IgG.
Resumo:
L’ús de metal·lacarborans en la síntesi de compostos polianiònics amb un alt contingut en bor i amb bons rendiments és un tema d’alt interès i estudi al grup de Síntesi Inorgànica i Catàlisi de l’ICMAB. Els metal·lacarborans presenten diverses aplicacions innovadores com la BNCT (Boron Neutron Capture Therapy),1 tractament d’aigües residuals,2 activitats catalítiques3 i com a agents dopants de membranes polimèriques conductores.4 Amb la perspectiva d’emprar clústers de bor per materials moleculars funcionalitzats, hem iniciat una investigació que busca la síntesi de productes híbrids amb múltiples elements electroactius (metal·lacarborans) i el grup funcional carbonil, que gràcies a la seva reactivitat coneguda ens permetrà aplicar les molècules sintetitzades a futures reaccions i aplicacions. Una de les condicions inicials plantejades en aquesta investigació és l’ús de productes químics assequibles i de gran disponibilitat, per tal de poder assegurar l’obtenció de precursors per a futures aplicacions amb bons rendiments i ràpids de sintetitzar. Per assolir aquest objectiu es van iniciar les investigacions amb la cetona més simple coneguda, l’acetona (CH3-CO-CH3) (pKa = 19.3) com a producte de partida. A partir de la reacció d’aquesta amb una base forta no nucleòfila es genera CH3-COCH2 (-). Si s’aconsegueix prevenir o minimitzar la reacció d’addició aldòlica, l’anió CH3- CO-CH2 (-) pot atacar nucleofílicament al carboni contigu al catió oxoni5 de la molècula de cobaltabisdicarballur dioxanat (cosà dioxanat), [3,3’-Co(8-(OCH2CH2)2-1,2- C2B9H10)(1’,2’-C2B9H11)], generant un derivat del cosà dioxanat que conté un grup carbonil. Aquest procediment pot ser repetit per introduir diverses unitats de metal·lacarborans (cosà, fesà, etc.), tot i que aquest procés presenta una gran dispersió de subproductes, fet que fa baixar el rendiment global i li resta interès. Un procediment molt més efectiu i que dóna un control de la regioselectivitat molt major dels centres electroactius incorporats és la síntesi acetoacètica (pKa H intercarbonílic = 10.7). Múltiples molècules homo i hetero polianiòniques amb metal·lacarborans han estat sintetitzades amb èxit en aquest treball, amb un control regioselectiu molt precís mitjançant aquest mètode sintètic, i caracteritzades per mètodes electroquímics.
Resumo:
Chagas disease control requires an innovative approach to strengthen community participation in vector surveillance. This paper presents a case study of a community-based bug-hunting campaign in Guatemala. The campaign was implemented in 2007 in the following three stages: (i) a four week preparation stage to promote bug-hunting, (ii) a one week bug-hunting stage to capture and collect bugs and (iii) a 10 week follow-up stage to analyse the bugs and spray insecticide. A total of 2,845 bugs were reported, of which 7% were Triatominae vectors, such as Rhodnius prolixus and Triatoma dimidiata. The bug-hunting campaign detected a five-six-fold higher amount of vectors in one week than traditional community-based surveillance detects in one year. The bug-hunting campaign effectively detected vectors during a short period, provided information to update the vector infestation map and increased community and political awareness regarding Chagas disease. This approach could be recommended as an effective and feasible strategy to strengthen vector surveillance on a larger scale.
Resumo:
The high proportion of cases of cutaneous leishmaniasis reported amongst residents in the city of Bandeirantes, in the state of Paraná, Brazil, led the authors to investigate the phlebotomine fauna in both urban and rural environments. The sandflies were captured with automatic light traps from 07:00 pm-07:00 am fortnightly in 11 urban peridomiciles from April 2008-March 2009 and monthly in three ecotopes within four rural localities from April 2009-March 2010. In one of these latter localities, sandfly capture was conducted with white/black Shannon traps during each of three seasons: spring, summer and fall. A total of 5,729 sandflies of 17 species were captured. Nyssomyia neivai (46.7%) and Nyssomyia whitmani (35.3%) were the predominant species. In this study, 3,865 specimens were captured with automatic light traps: 22 (0.083 sandflies/trap) in the urban areas and 3,843 (26.69 sandflies/trap) in the rural areas. Ny. neivai was predominant in urban (68.2%) and rural (42.8%) areas. A total of 1,864 specimens were captured with the white/black Shannon traps and Ny. neivai (54.5%) and Ny. whitmani (31.4%) were the predominant species captured. The small numbers of sandflies captured in the urban areas suggest that the transmission of Leishmania has occurred in the rural area due to Ny. neivai and Ny. whitmani as the probable vectors.
Resumo:
Uncertainty quantification of petroleum reservoir models is one of the present challenges, which is usually approached with a wide range of geostatistical tools linked with statistical optimisation or/and inference algorithms. Recent advances in machine learning offer a novel approach to model spatial distribution of petrophysical properties in complex reservoirs alternative to geostatistics. The approach is based of semisupervised learning, which handles both ?labelled? observed data and ?unlabelled? data, which have no measured value but describe prior knowledge and other relevant data in forms of manifolds in the input space where the modelled property is continuous. Proposed semi-supervised Support Vector Regression (SVR) model has demonstrated its capability to represent realistic geological features and describe stochastic variability and non-uniqueness of spatial properties. On the other hand, it is able to capture and preserve key spatial dependencies such as connectivity of high permeability geo-bodies, which is often difficult in contemporary petroleum reservoir studies. Semi-supervised SVR as a data driven algorithm is designed to integrate various kind of conditioning information and learn dependences from it. The semi-supervised SVR model is able to balance signal/noise levels and control the prior belief in available data. In this work, stochastic semi-supervised SVR geomodel is integrated into Bayesian framework to quantify uncertainty of reservoir production with multiple models fitted to past dynamic observations (production history). Multiple history matched models are obtained using stochastic sampling and/or MCMC-based inference algorithms, which evaluate posterior probability distribution. Uncertainty of the model is described by posterior probability of the model parameters that represent key geological properties: spatial correlation size, continuity strength, smoothness/variability of spatial property distribution. The developed approach is illustrated with a fluvial reservoir case. The resulting probabilistic production forecasts are described by uncertainty envelopes. The paper compares the performance of the models with different combinations of unknown parameters and discusses sensitivity issues.
Resumo:
El uso de metalacarboranos en la síntesis de compuestos aril-cobaltobis(dicarballuro) ha despertado un nuevo tema de interés y de estudio en el grupo de Síntesi Inorgànica i Catàlisi del ICMAB-CSIC. Los metalacarboranos presentan diversas aplicaciones innovadoras como la BNCT (Boron Neutron Capture Therapy), el tratamiento de aguas residuales, actividades catalíticas, como agentes dopantes en membranas poliméricas conductoras, y como integrantes en sensores potenciométricos, entre otros. El principal objetivo de este trabajo de investigación ha consistido en desarrollar un método de acoplamiento B–C sobre el anión sándwich [3,3’-Co-(1,2-C2B9H11)2]- para la formación de nuevos derivados aril-cobalto-bis(dicarballuro); éstos se han sintetizado por su posible capacidad fotoactiva. Este acoplamiento transcurre mediante una reacción de sustitución electrófila aromática (SEAr) sobre el anillo aromático o desde la óptica del metalacarborano, mediante una sustitución nucleófila inducida electrofilicamente (EINS). Dicha reacción requiere el uso de un ácido de Lewis como catalizador. El hecho que se haya utilizado AlCl3 como catalizador, hace que la reacción que se desarrolla en este trabajo recuerde de alguna manera a una reacción de Friedel-Crafts, pese a que la reacción está dirigida a la formación de un enlace B–C mediado por un ácido de Lewis. El principal problema de las reacciones de Friedel-Crafts es la elevada cantidad de areno que se precisa para llevar a cabo la reacción, debido a que el disolvente empleado puede actuar como fuente de electrófilos. El procedimiento empleado en nuestro caso utiliza el mesitileno como disolvente, el cual posee un gran impedimento estérico y un alto punto de ebullición. De esta manera, se puede realizar esta reacción utilizando entre 1.5 y 10 equivalentes de areno respecto al cobalto-bis(dicarballuro) sin que el disolvente actúe como reactivo. Se han estudiado y optimizado las condiciones experimentales para que el método sintético que genera el enlace B–C sea lo más universal posible para cualquier tipo de anillo aromático. Se han probado una gran diversidad de anillos aromáticos, desde anillos aromáticos fuertemente activados a los más desactivados, así como anillos aromáticos heterocíclicos. Finalmente, las condiciones de síntesis extraídas de este estudio son muy satisfactorias para los anillos activados probados y para los anillos débilmente desactivados. En cambio, para los arenos fuertemente desactivados, los rendimientos de la reacción han sido bajos. Por otro lado, las pruebas realizadas sobre los anillos heterocíclicos no han sido exitosas y no se ha producido el acoplamiento B–C.
Resumo:
In Brazil, the entomological surveillance of Aedes (Stegomyia) aegypti is performed by government-mandated larval surveys. In this study, the sensitivities of an adult sticky trap and traditional surveillance methodologies were compared. The study was performed over a 12-week period in a residential neighbourhood of the municipality of Pedro Leopoldo, state of Minas Gerais, Brazil. An ovitrap and a MosquiTRAP were placed at opposite ends of each neighbourhood block (60 traps in total) and inspections were performed weekly. The study revealed significant correlations of moderate strength between the larval survey, ovitrap and MosquiTRAP measurements. A positive relationship was observed between temperature, adult capture measurements and egg collections, whereas precipitation and frequency of rainy days exhibited a negative relationship.
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The principal focus of the PhD thesis lies in the Social Software area and the appropriation of technology in "non-Western" societies taking the example of Bulgaria. The term "non-Western" is used to explain places considered technologically underdeveloped. The aims have been to capture how Bulgarian users creatively interpret and appropriate Internet identifying the sociocultural, political and subjective conditions in which that appropriation occurs, to identify emerging practices based on the interpretation and use of Internet and the impact they had on society and what conditions could influence the technological interpretation and the meaning these practices had for both users and social configuration of Internet as media in Bulgaria. An ethnographic approach has been used simultaneously in different online and offline contexts. On the one hand, this study is based on exploration of the Bulgarian Internet Space through online participant observation in forums and websites reviews and on the other hand, on semi-structured interviews with different types of users of the virtual platforms found, made both face to face and online and finally online participant observation at the same platforms. It is based on some contributions of the ethnographic work of Christine Hine in virtual environments and the notions of time and space of Barbara Czarniawska contextualized in the modern form of organization that occurs in a network of multiple and fragmented contexts across many movements.
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We want to shed some light on the development of person mobility by analysing the repeated cross-sectional data of the four National Travel Surveys (NTS) that were conducted in Germany since the mid seventies. The above mentioned driving forces operate on different levels of the system that generates the spatial behaviour we observe: Travel demand is derived from the needs and desires of individuals to participate in spatially separated activities. Individuals organise their lives in an interactive process within the context they live in, using given infrastructure. Essential determinants of their demand are the individual's socio-demographic characteristics, but also the opportunities and constraints defined by the household and the environment are relevant for the behaviour which ultimately can be realised. In order to fully capture the context which determines individual behaviour, the (nested) hierarchy of persons within households within spatial settings has to be considered. The data we will use for our analysis contains information on these three levels. With the analysis of this micro-data we attempt to improve our understanding of the afore subsumed macro developments. In addition we will investigate the prediction power of a few classic sociodemographic variables for the daily travel distance of individuals in the four NTS data sets, with a focus on the evolution of this predictive power. The additional task to correctly measure distances travelled by means of the NTS is threatened by the fact that although these surveys measure the same variables, different sampling designs and data collection procedures were used. So the aim of the analysis is also to detect variables whose control corrects for the known measurement error, as a prerequisite to apply appropriate models in order to better understand the development of individual travel behaviour in a multilevel context. This task is complicated by the fact that variables that inform on survey procedures and outcomes are only provided with the data set for 2002 (see Infas and DIW Berlin, 2003).