987 resultados para Ataxia-telangiectasia Atm
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Our main aim in this report is to use Next generation SDH to solve the problem associated with the new telecom services. We have tried to analyze the different services and in this way identified some drawbacks which can be seen as hindrances in supporting these services. In this thesis we will first try to have idea of the past SDH technology and how the next generation SDH came into effect overriding the drawbacks of the past SDH technology. Our main concern throughout the report will be the way we can use next generation SDH to provide quality telecommunication services. In the section dealing with the telecommunication services through next generation SDH we will consider how we can transport Ethernet services through the Next generation SDH and what are the benefits to the customer and the service provider in using next generation SDH as a carrier. We will also see to improve to the ATM services through Next generation SDH. And finally towards the end I have identified some possible future work can be done in this area.
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Les approches multimodales dans l'imagerie cérébrale non invasive sont de plus en plus considérées comme un outil indispensable pour la compréhension des différents aspects de la structure et de la fonction cérébrale. Grâce aux progrès des techniques d'acquisition des images de Resonance Magnetique et aux nouveaux outils pour le traitement des données, il est désormais possible de mesurer plusieurs paramètres sensibles aux différentes caractéristiques des tissues cérébraux. Ces progrès permettent, par exemple, d'étudier les substrats anatomiques qui sont à la base des processus cognitifs ou de discerner au niveau purement structurel les phénomènes dégénératifs et développementaux. Cette thèse met en évidence l'importance de l'utilisation d'une approche multimodale pour étudier les différents aspects de la dynamique cérébrale grâce à l'application de cette approche à deux études cliniques: l'évaluation structurelle et fonctionnelle des effets aigus du cannabis fumé chez des consommateurs réguliers et occasionnels, et l'évaluation de l'intégrité de la substance grise et blanche chez des jeunes porteurs de la prémutations du gène FMR1 à risque de développer le FXTAS (Fragile-X Tremor Ataxia Syndrome). Nous avons montré que chez les fumeurs occasionnels de cannabis, même à faible concentration du principal composant psychoactif (THC) dans le sang, la performance lors d'une tâche visuo-motrice est fortement diminuée, et qu'il y a des changements dans l'activité des trois réseaux cérébraux impliqués dans les processus cognitifs: le réseau de saillance, le réseau du contrôle exécutif, et le réseau actif par défaut (Default Mode). Les sujets ne sont pas en mesure de saisir les saillances dans l'environnement et de focaliser leur attention sur la tâche. L'augmentation de la réponse hémodynamique dans le cortex cingulaire antérieur suggère une augmentation de l'activité introspective. Une investigation des ef¬fets au niveau cérébral d'une exposition prolongée au cannabis, montre des changements persistants de la substance grise dans les régions associées à la mémoire et au traitement des émotions. Le niveau d'atrophie dans ces structures corrèle avec la consommation de cannabis au cours des trois mois précédant l'étude. Dans la deuxième étude, nous démontrons des altérations structurelles des décennies avant l'apparition du syndrome FXTAS chez des sujets jeunes, asymptomatiques, et porteurs de la prémutation du gène FMR1. Les modifications trouvées peuvent être liées à deux mécanismes différents. Les altérations dans le réseau moteur du cervelet et dans la fimbria de l'hippocampe, suggèrent un effet développemental de la prémutation. Elles incluent aussi une atrophie de la substance grise du lobule VI du cervelet et l'altération des propriétés tissulaires de la substance blanche des projections afférentes correspondantes aux pédoncules cérébelleux moyens. Les lésions diffuses de la substance blanche cérébrale peu¬vent être un marquer précoce du développement de la maladie, car elles sont liées à un phénomène dégénératif qui précède l'apparition des symptômes du FXTAS. - Multimodal brain imaging is becoming a leading tool for understanding different aspects of brain structure and function. Thanks to the advances in Magnetic Resonance imaging (MRI) acquisition schemes and data processing techniques, it is now possible to measure different parameters sensitive to different tissue characteristics. This allows for example to investigate anatomical substrates underlying cognitive processing, or to disentangle, at a pure structural level degeneration and developmental processes. This thesis highlights the importance of using a multimodal approach for investigating different aspects of brain dynamics by applying this approach to two clinical studies: functional and structural assessment of the acute effects of cannabis smoking in regular and occasional users, and grey and white matter assessment in young FMR1 premutation carriers at risk of developing FXTAS. We demonstrate that in occasional smokers cannabis smoking, even at low concentration of the main psychoactive component (THC) in the blood, strongly decrease subjects' performance on a visuo-motor tracking task, and globally alters the activity of the three brain networks involved in cognitive processing: the Salience, the Control Executive, and the Default Mode networks. Subjects are unable to capture saliences in the environment and to orient attention to the task; the increase in Hemodynamic Response in the Anterior Cingulate Cortex suggests an increase in self-oriented mental activity. A further investigation on long term exposure to cannabis, shows a persistent grey matter modification in brain regions associated with memory and affective processing. The degree of atrophy in these structures also correlates with the estimation of drug use in the three months prior the participation to the study. In the second study we demonstrate structural changes in young asymptomatic premutation carriers decades before the onset of FXTAS that might be related to two different mechanisms. Alteration of the cerebellar motor network and of the hippocampal fimbria/ fornix, may reflect a potential neurodevelopmental effect of the premutation. These include grey matter atrophy in lobule VI and modification of white matter tissue property in the corresponding afferent projections through the Middle Cerebellar Peduncles. Diffuse hemispheric white matter lesions that seem to appear closer to the onset of FXTAS and be related to a neurodegenerative phenomenon may mark the imminent onset of FXTAS.
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Tämän diplomityön aiheena oli tutkia ATM-moduulin järjestelmätestaustarpeita. ATM-moduuli on osa Nokian kolmannen generaation matkapuhelinverkkoarkkitehtuuria. Työ tehtiin Nokia Networks Oyj:lle MSC&HLR-tuotelinjan järjestelmätestausjaokselle. Työssä käsitellään aluksi GSM- ja UMTS-verkkojen arkkitehtuureja, protokollia ja toimintoja, sekä tutustutaan ATM-tekniikkaan, jota käytetään UMTS-liityntäverkon tiedonvälityksessä. Tämän jälkeen perehdytään ATM-moduulin rakenteeseen ja toimintoihin. Työssä perehdytään järjestelmätestauksen eri osa-alueisiin, niiden testilaitteille asettamiin vaatimuksiin sekä hahmotellaan järjestelmätestauksen päälinjoja.
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WCDMA tukiasema (Node B) on osa UMTS-järjestelmän radioverkkoa. Node B on tärkeä verkkoelementti, jonka tarkoituksena on yhdistää mobiilikäyttäjät verkkoon. Telecom –ohjelmisto (TCOM SW) on vastuussa suuresta osasta Node B:n toiminnallisuutta. TCOM SW:n testaukseen käytetään paljon resursseja, jotta ohjelmiston oikeasta toiminnasta ja laadusta voidaan varmistua. System component testing on testausvaihe, jossa järjestelmän (Node B) osa (system component, tässä diplomityössä TCOM SW) testataan ennen sen integroimista muuhun järjestelmään. Tähän tarvitaan testityökalu ja testitapausten toteutus. Node B TTCN Tester (testeri) on työkalu, jota käytetään Node B:n ohjelmiston testauksessa. Testitapaukset toteutetaan TTCN-testinotaatiota käyttäen ja testataan testerin avulla. TCOM SW:n system component –testausvaihetta varten testeriin lisättiin uudet rajapinnat, joiden avulla voidaan simuloita Node B:n ATM-ohjelmistoa sekä WPA- ja WTR-yksiköitä. Tässä diplomityössä toteuttiin TTCN testitapaukset uusille rajapinnoille. Testitapaukset tekivät TCOM SW system component –testausvaiheen riippumattomaksi Node B:n ATM-ohjelmistosta sekä WPA- ja WTR-yksiköistä. Lisäksi TCOM SW:n toiminnan testaus näissä rajapinnoissa voidaan tästä lähtien tehdä automaattisesti. Testitapauksien toiminta varmistettiin testeriä käyttäen. Tulokset olivat hyviä, uudet testitapaukset ja TTCN rajapinnat toimivat oikein lisäten testauksen tehokkuutta.
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UMTS is a 3rd generation telecommunication system, which introduces new network architecture. The change in the network architecture introduces new logical network nodes and changes the role of existing nodes in the network. This architecture changes the current vertically specialized network into a horizontally layered structure. In practice, the layering means that different levels in network hierarchy are separated, and they communicate over well-specified interfaces. The Connectivity Layer, at the bottom of the UMTS network architecture, contains Media Gateways (MGW). The GSM radio access network and UMTS access network are connected to the connectivity network via a MGW. External networks, e.g. ISDN networks, are accessed via other MGWs. The user plane is transported across the connectivity network between/via MGWs. ATM network is used as the backbone in Ericsson’s UMTS core network release 2.0. The main goal of this thesis is to study how the MGW is used to bridge ATM and TDM networks. The Circuit Emulation Service (CES) for ATM is studied, as the conversion from TDM to ATM is made according it. The transportation is made using AAL2 and the issues that it has with voice traffic are studied. The implementation and usage of TDM switching service in MGW are described in detail.
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Tietoliikenteen suuria linjoja ovat mm. siirtonopeuksien kasvu, IP-tekniikan yleistyminen ja Internet-liitäntöjen kautta käytettävien palvelujen valtaisa lisääntyminen. Kotien verkkoliitännöissä eräänä haasteena on vielä tarjota kohtuullisilla kustannuksilla suuri liikennöintikapasiteetti, mikä voidaan tehdä usealla eri tavalla. Kotien laajakaistaiseen tulevaisuuteen johtaakin useita polkuja, joita tässä diplomityössä on kartoitettu. Työssä on esitelty erilaisia kotitalouksiin soveltuvia nopeita langallisia ja langattomia liitäntätekniikoita. Painopiste on nykyisessä valtavirrassa, kuparikaapelia käyttävässä xDSL-tekniikkaperheessä ja niihin pohjautuvissa verkoissa mukaan lukien ATM-pohjaiset runkoverkot Käytännön liitäntöjen laatua ja toimivuutta on selvitetty mittaamalla perinteistä ADSL-liitäntää sekä uudempaa tekniikkaa edustavaa SHDSL-liitäntää. Liittymiä mitattiin sekä xDSL-mittarilla että spektrianalysaattorilla. Mittauksissa kiinnitettiin huomiota kupariparien toimintaan, kuormituksen ja häiriöiden vaikutukseen sekä liittymän toimintaan käyttäjän kannalta. Mittauksissa todettiin, että kuparikaapeli sietää hyvin häiriöitä myös uusien tekniikoiden käytössä. Tulevaisuutta kartoitettiin haastattelututkimuksella, josta työhön on koostettu operaattoreiden, konsulttien ja käyttäjien näkemyksiä laajakaistaliitäntöjen ja niiden kautta saatavien palveluiden kehittymisestä. Tehty tutkimus osoittaa, että ADSL-tekniikka hyödyntää hyvin sille varattuja taajuusalueita. SHDSL-tekniikassa voidaan lähettää ja vastaanottaa suuria datamääriä molempiin suuntiin.
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Objetivou-se desenvolver geleia tradicional de umbu-cajá, caracterizá-la quanto a parâmetros físicos, químicos, microbiológicos e sensoriais, e avaliar sua estabilidade durante o armazenamento por seis meses em condições ambientais. Para processamento, foram utilizados 44% de polpa diluída de umbu-cajá, 1% de pectina de alto teor de metoxilação (ATM) e 55% de açúcar cristal. A formulação foi submetida à cocção em tacho aberto de aço inoxidável até teor de sólidos solúveis totais de cerca de 68 ªBrix. A geleia foi envasada em recipientes de vidros transparentes, caracterizada e estocada em temperatura e umidade relativa médias de 23,25 ºC e 81%, respectivamente, com acompanhamento por meio de análises físicas e químicas a cada 30 dias de armazenamento. Os resultados da caracterização química evidenciaram produto com elevado teor de carboidratos, baixos conteúdos de cinzas e proteínas e valor calórico de 256 kcal/100g. Não foi verificado contagem dos microorganismos pesquisados (bolores e leveduras, coliformes totais e termotolerantes, Staphylococcus, bactérias mesófilas e Salmonella). Constatou-se alta aceitabilidade, com índices de aceitação superiores a 70% para todos os atributos sensoriais investigados (cor, aparência, aroma, consistência, sabor, doçura e impressão global) e intenção de compra de 67,5%, indicando potencial para industrialização e comercialização. O armazenamento promoveu aumento significativo nos valores de pH, sólidos solúveis totais (SST), relação SST/ATT e firmeza e reduções significativas na acidez total titulável (ATT), atividade de água, luminosidade, intensidades de vermelho e amarelo, croma, ângulo de tonalidade, extrusão e adesividade. Constatou-se tendência à estabilidade dos valores de umidade e de sólidos totais. O processamento do umbu-cajá para elaboração de geleia mostrou-se viável, apresentando-se como mais uma opção de renda para pequenos produtores do semiárido brasileiro.
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Background: Differences in the distribution of genotypes between individuals of the same ethnicity are an important confounder factor commonly undervalued in typical association studies conducted in radiogenomics. Objective: To evaluate the genotypic distribution of SNPs in a wide set of Spanish prostate cancer patients for determine the homogeneity of the population and to disclose potential bias. Design, Setting, and Participants: A total of 601 prostate cancer patients from Andalusia, Basque Country, Canary and Catalonia were genotyped for 10 SNPs located in 6 different genes associated to DNA repair: XRCC1 (rs25487, rs25489, rs1799782), ERCC2 (rs13181), ERCC1 (rs11615), LIG4 (rs1805388, rs1805386), ATM (rs17503908, rs1800057) and P53 (rs1042522). The SNP genotyping was made in a Biotrove OpenArrayH NT Cycler. Outcome Measurements and Statistical Analysis: Comparisons of genotypic and allelic frequencies among populations, as well as haplotype analyses were determined using the web-based environment SNPator. Principal component analysis was made using the SnpMatrix and XSnpMatrix classes and methods implemented as an R package. Non-supervised hierarchical cluster of SNP was made using MultiExperiment Viewer. Results and Limitations: We observed that genotype distribution of 4 out 10 SNPs was statistically different among the studied populations, showing the greatest differences between Andalusia and Catalonia. These observations were confirmed in cluster analysis, principal component analysis and in the differential distribution of haplotypes among the populations. Because tumor characteristics have not been taken into account, it is possible that some polymorphisms may influence tumor characteristics in the same way that it may pose a risk factor for other disease characteristics. Conclusion: Differences in distribution of genotypes within different populations of the same ethnicity could be an important confounding factor responsible for the lack of validation of SNPs associated with radiation-induced toxicity, especially when extensive meta-analysis with subjects from different countries are carried out.
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Relato de um caso raro de apresentação de infestação por cisticercose do espaço subaracnóide cerebral e intra-raquiano nas regiões cervical e torácica em mulher de 59 anos de idade, com náuseas, sinais de ataxia cerebelar e perda gradual da sensibilidade nas pernas. O diagnóstico foi feito por meio de imagens por ressonância magnética do cérebro e da coluna cérvico-torácica, que evidenciaram a presença de cistos nos espaços subaracnóides. O exame do líquido cefalorraquiano revelou teste imunológico ELISA positivo e elevado nível de proteína (420 mg/dl), indicativo de atividade da doença. Os parasitos foram removidos cirurgicamente pela necessidade de descompressão da medula espinhal torácica. Breve comentário sobre a patogênese da forma cística da cisticercose espinhal intradural-extramedular, aspectos das imagens de ressonância magnética e tratamento foram feitos com base nos achados de revisão da literatura.
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Pyroglutamic acidemia is an uncommon metabolic disorder, which is usually diagnosed at early ages. The mechanism of action is thought to be glutathione depletion, and its clinical manifestations consist of hemolytic anemia, mental retardation, ataxia, and chronic metabolic acidosis. However, an acquired form has been described in adult patients, who usually present with confusion, respiratory distress, and high anion gap metabolic acidosis (HAGMA). It is also associated with many conditions, including chronic acetaminophen consumption. A 68-year-old white male, with chronic acetaminophen use presented to our service on multiple occasions with severe HAGMA. The patient was admitted to the intensive care unit and required mechanical ventilation and aggressive supportive measures. After ruling out the most frequent etiologies for his acid-base disorder and considering the long history of Tylenol ingestion, his 5-oxiproline (pyroglutamic acid) levels were sent to diagnose pyroglutamic acidemia. Clinicians need to be aware of this cause for metabolic acidosis since it might be a more common metabolic disturbance in compromised patients than would be expected. Subjects with HAGMA that cannot be explained by common causes should be tested for the presence of 5-oxoproline. Discontinuation of the offending drug is therapeutic.
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Rendu-Osler-Weber syndrome or hereditary hemorrhagic telangiectasia is an autosomal dominant vascular disease involving multiple systems whose main pathological change is the presence of abnormal arteriovenous communications. Most common symptoms include skin and mucosal telangiectasias, epistaxis, gastrointestinal, pulmonary and intracerebral bleeding. The key imaging finding is the presence of visceral arteriovenous malformations. The diagnosis is based on clinical criteria and can be confirmed by molecular biology techniques. Treatment includes measures for management of epistaxis, as well as surgical excision, radiotherapy and embolization of arteriovenous malformations, with emphasis on endovascular treatment. The present pictorial essay includes a report of three typical cases of this entity and a literature review.
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The catalytic dehydrogenation of ethylbenzene in presence of steam is the main commercial route to produce styrene. The industrial catalysts are potassium- and chromia-doped hematite which show low surface areas leading to bad performance and short life. In order to develop catalysts with high areas, the effect of beryllium on the textural properties and on the catalytic performance of this iron oxide was studied. The influence of the amount of the dopant, the starting material and the calcination temperature were also studied. In sample preparations, iron and beryllium salts (nitrate or sulfate) were hydrolyzed with ammonia and then calcinated. The experiments followed a factorial design with two variables in two levels (Fe/Be= 3 and 7; calcination temperature= 500 and 700ºC). Solids without any dopant were also prepared. Samples were characterized by elemental analysis, infrared spectroscopy, surface area and porosity measurements, X-ray diffraction, DSC and TG. The catalysts were tested in a microreactor at 524ºC and 1 atm, by using a mole ratio of steam/ ethylbenzene=10. The selectivity was measured by monitoring styrene, benzene and toluene formation. It was found that the effect of beryllium on the characteristics of hematite and on its catalytic performance depends on the starting material and on the amount of dopant. Surface areas increased due to the dopant as well as the nature of the precursor; samples produced by beryllium sulfate showed higher areas. Beryllium-doped solids showed a higher catalytic activity when compared to pure hematite, but no significant influence of the anion of starting material was noted. It can be concluded that beryllium acts as both textural and structural promoter. Samples with Fe/Be= 3, heated at 500ºC, lead to the highest conversion and were the most selective. However, catalysts prepared from beryllium sulfate are the most promising to ethylbenzene dehydrogenation due to their high surface area which could lead to a longer life.
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Classical Monte Carlo simulations were carried out on the NPT ensemble at 25°C and 1 atm, aiming to investigate the ability of the TIP4P water model [Jorgensen, Chandrasekhar, Madura, Impey and Klein; J. Chem. Phys., 79 (1983) 926] to reproduce the newest structural picture of liquid water. The results were compared with recent neutron diffraction data [Soper; Bruni and Ricci; J. Chem. Phys., 106 (1997) 247]. The influence of the computational conditions on the thermodynamic and structural results obtained with this model was also analyzed. The findings were compared with the original ones from Jorgensen et al [above-cited reference plus Mol. Phys., 56 (1985) 1381]. It is notice that the thermodynamic results are dependent on the boundary conditions used, whereas the usual radial distribution functions g(O/O(r)) and g(O/H(r)) do not depend on them.
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Thermodynamic properties and radial distribution functions for liquid chloroform were calculated using the Monte Carlo method implemented with Metropolis algorithm in the NpT ensemble at 298 K and 1 atm. A five site model was developed to represent the chloroform molecules. A force field composed by Lennard-Jones and Coulomb potential functions was used to calculate the intermolecular energy. The partial charges needed to represent the Coulombic interactions were obtained from quantum chemical ab initio calculations. The Lennard-Jones parameters were adjusted to reproduce experimental values for density and enthalpy of vaporization for pure liquid. All thermodynamic results are in excelent agreement with experimental data. The correlation functions calculated are in good accordance with theoretical results avaliable in the literature. The free energy for solvating one chloroform molecule into its own liquid at 298 K and 1 atm was computed as an additional test of the potential model. The result obtained compares well with the experimental value. The medium effects on cis/trans convertion of a hypotetical solute in water TIP4P and chloroform solvents were also accomplished. The results obtained from this investigation are in agreement with estimates of the continuous theory of solvation.
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This work reports extraction yield and chemical characterization of the extracts obtained by high-pressure CO2 extraction of a cultivar of Ocimum basilicum L. The experiments were performed in the temperature range of 20 to 50 °C, from 100 to 250 atm of pressure. Chemical analyses were carried out by gas chromatography coupled to mass spectrometry, permitting to identify 23 compounds that were grouped into five chemical classes. Results showed that temperature and solvent density influenced positively the extraction yield. At 20 °C and 0.41 g cm-3 occurred a rise in the concentration of monoterpenes, oxygenated monoterpenes, sesquiterpenes and oxygenated sesquiterpenes.