992 resultados para 395


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Quality management has become a strategic issue for organisations and is very valuable to produce quality software. However, quality management systems (QMS) are not easy to implement and maintain. The authors' experience shows the benefits of developing a QMS by first formalising it using semantic web ontologies and then putting them into practice through a semantic wiki. The QMS ontology that has been developed captures the core concepts of a traditional QMS and combines them with concepts coming from the MPIu'a development process model, which is geared towards obtaining usable and accessible software products. Then, the ontology semantics is directly put into play by a semantics-aware tool, the Semantic MediaWiki. The developed QMS tool is being used for 2 years by the GRIHO research group, where it has manages almost 50 software development projects taking into account the quality management issues. It has also been externally audited by a quality certification organisation. Its users are very satisfied with their daily work with the tool, which manages all the documents created during project development and also allows them to collaborate, thanks to the wiki features.

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Saint Vicent Ferrer’s personality (1350-1419) has been tackled by researchers in different points of view, and this has meant a proliferation of very diverse studies. There isn’t much, however, the works which has done analysis relating to popular piety and devotion. In this sense, the different hagiographic sources puts us faced with a saint with a very widespread cult in some areas, for instance, the Crown of Aragon and Castille, but also in other european places. As for the last, we detect an import focus of devotion in Brittany, where the saint arrived to preach after being called by Jean V. He died at Vannes (1419), the political capital of the duchy of Brittany, and he was buried in Saint Pierre’s cathedral. Previously to his canonization, his fame as a miracle worker during his life was the reason for his tomb became a real locus sanctus, a place where pilgrims arrived to venerate his relics. These relics had healing and prophylactic properties. Apart from these ones, we have many references of “contact relics” with properties of this kind.

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Analyzing the type and frequency of patient-specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning, and improved clinical care. Locus-specific databases allow for the collection, organization, storage, and analysis of genetic variants of disease. Here, we describe the development and analysis of the TREAT-NMD DMD Global database (http://umd.be/TREAT_DMD/). We analyzed genetic data for 7,149 DMD mutations held within the database. A total of 5,682 large mutations were observed (80% of total mutations), of which 4,894 (86%) were deletions (1 exon or larger) and 784 (14%) were duplications (1 exon or larger). There were 1,445 small mutations (smaller than 1 exon, 20% of all mutations), of which 358 (25%) were small deletions and 132 (9%) small insertions and 199 (14%) affected the splice sites. Point mutations totalled 756 (52% of small mutations) with 726 (50%) nonsense mutations and 30 (2%) missense mutations. Finally, 22 (0.3%) mid-intronic mutations were observed. In addition, mutations were identified within the database that would potentially benefit from novel genetic therapies for DMD including stop codon read-through therapies (10% of total mutations) and exon skipping therapy (80% of deletions and 55% of total mutations).

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BACKGROUND: Left atrial (LA) dilatation is associated with a large variety of cardiac diseases. Current cardiovascular magnetic resonance (CMR) strategies to measure LA volumes are based on multi-breath-hold multi-slice acquisitions, which are time-consuming and susceptible to misregistration. AIM: To develop a time-efficient single breath-hold 3D CMR acquisition and reconstruction method to precisely measure LA volumes and function. METHODS: A highly accelerated compressed-sensing multi-slice cine sequence (CS-cineCMR) was combined with a non-model-based 3D reconstruction method to measure LA volumes with high temporal and spatial resolution during a single breath-hold. This approach was validated in LA phantoms of different shapes and applied in 3 patients. In addition, the influence of slice orientations on accuracy was evaluated in the LA phantoms for the new approach in comparison with a conventional model-based biplane area-length reconstruction. As a reference in patients, a self-navigated high-resolution whole-heart 3D dataset (3D-HR-CMR) was acquired during mid-diastole to yield accurate LA volumes. RESULTS: Phantom studies. LA volumes were accurately measured by CS-cineCMR with a mean difference of -4.73 ± 1.75 ml (-8.67 ± 3.54%, r2 = 0.94). For the new method the calculated volumes were not significantly different when different orientations of the CS-cineCMR slices were applied to cover the LA phantoms. Long-axis "aligned" vs "not aligned" with the phantom long-axis yielded similar differences vs the reference volume (-4.87 ± 1.73 ml vs. -4.45 ± 1.97 ml, p = 0.67) and short-axis "perpendicular" vs. "not-perpendicular" with the LA long-axis (-4.72 ± 1.66 ml vs. -4.75 ± 2.13 ml; p = 0.98). The conventional bi-plane area-length method was susceptible for slice orientations (p = 0.0085 for the interaction of "slice orientation" and "reconstruction technique", 2-way ANOVA for repeated measures). To use the 3D-HR-CMR as the reference for LA volumes in patients, it was validated in the LA phantoms (mean difference: -1.37 ± 1.35 ml, -2.38 ± 2.44%, r2 = 0.97). Patient study: The CS-cineCMR LA volumes of the mid-diastolic frame matched closely with the reference LA volume (measured by 3D-HR-CMR) with a difference of -2.66 ± 6.5 ml (3.0% underestimation; true LA volumes: 63 ml, 62 ml, and 395 ml). Finally, a high intra- and inter-observer agreement for maximal and minimal LA volume measurement is also shown. CONCLUSIONS: The proposed method combines a highly accelerated single-breathhold compressed-sensing multi-slice CMR technique with a non-model-based 3D reconstruction to accurately and reproducibly measure LA volumes and function.

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Työn tavoitteena oli selvittää UPM-Kymmenen Rauman voimalaitokselle soveltuvan kaukolämpöakun prosessikytkentä, optimaalinen koko ja investoinnin kannattavuus. Lisäksi ratkaistiin funktio, jolla voidaan määrittää optimaalinen kaukolämpöakun koko kaukolämpöverkon koon perusteella. Teoriaosassa käsiteltiin investointien ja lämmön varastoinnin perusteita käyttämällä hyväksi kirjallisuutta. Soveltavassa osassa tietoa kerättiin kirjallisuuden lisäksi asiantuntijoiden haastatteluilla. Teorian ja kannattavuuslaskelmien perusteella toteutettavaksi ratkaisuksi valittiin suorakytkentäinen paineistettu kaukolämpöakku. Valitun akun purkaus- ja latustehoiksi saatiin 40 MW, akun tilavuudeksi 1 700 m³, korkeudeksi 33 m ja halkaisijaksi 8 m. Investonnin sisäinen korko on 16,6 prosenttia. Kannattavuuslaskelmien ja herkkyystarkastelun perusteella investointi on kannattava. Kaukolämpöverkkoon rakennattavan akun optimaalinen koko voidaan määrittää funktiolla: y = -0,0102x² +9,6605x +68,395 , jossa y on akun tilavuus ja x verkon kaukolämpöenergian vuosittainen kulutus.

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RESUMO O maracujazeiro pertence ao gênero Passiflora, considerado o de maior importância econômica da família Passifloraceae. O objetivo do trabalho foi estimar para o maracujazeiro-azedo parâmetros e valores genotípicos pelo procedimento REML/BLUP em nível de progênie. Foram avaliadas 27 progênies de meios-irmãos oriundas do segundo ciclo de seleção recorrente conduzido na UENF, selecionadas via índice de seleção. As características avaliadas foram: número de frutos por parcela (NF); massa total de frutos por parcela (MTF) e massa média de frutos (MMF). Os valores genéticos foram estimados por meio do Software SELEGEN, utilizando o procedimento REML/BLUP. Nas estimativas dos parâmetros genéticos via REML, as duas características ligadas diretamente à produção e, portanto, consideradas as mais importantes, NF e MTF apresentaram estimativas de herdabilidade média de progênies de 0,395 e 0,439, respectivamente. Na seleção e nas estimativas dos ganhos via BLUP, o coeficiente de coincidência revelou concordância do resultado da seleção entre as progênies, mostrando que para as três características avaliadas, as mesmas 8 progênies são superiores para as três características simultaneamente. A metodologia REML/BLUP mostrou-se adequada para a avaliação, possibilitando obter estimativas dos parâmetros genéticos e fenotípicos que revelaram a possibilidade de sucesso com a seleção de progênies superiores, com ganhos simultaneamente de 18,02%, 23,08% e 9,65% para NF, MTF e MMF, respectivamente.

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Most current methods for adult skeletal age-at-death estimation are based on American samples comprising individuals of European and African ancestry. Our limited understanding of population variability hampers our efforts to apply these techniques to various skeletal populations around the world, especially in global forensic contexts. Further, documented skeletal samples are rare, limiting our ability to test our techniques. The objective of this paper is to test three pelvic macroscopic methods (1-Suchey-Brooks; 2- Lovejoy; 3- Buckberry and Chamberlain) on a documented modern Spanish sample. These methods were selected because they are popular among Spanish anthropologists and because they never have been tested in a Spanish sample. The study sample consists of 80 individuals (55 ♂ and 25 ♀) of known sex and age from the Valladolid collection. Results indicate that in all three methods, levels of bias and inaccuracy increase with age. The Lovejoy method performs poorly (27%) compared with Suchey-Brooks (71%) and Buckberry and Chamberlain (86%). However, the levels of correlation between phases and chronological ages are low and comparable in the three methods (< 0.395). The apparent accuracy of the Suchey-Brooks and Buckberry and Chamberlain methods is largely based on the broad width of the methods" estimated intervals. This study suggests that before systematic application of these three methodologies in Spanish populations, further statistical modeling and research into the co-variance of chronological age with morphological change is necessary. Future methods should be developed specific to various world populations, and should allow for both precision and flexibility in age estimation.

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We compared different approaches to analyze running mechanics alterations during repeated treadmill sprints. Thirteen active male athletes performed five 5-second sprints with 25 seconds of recovery on an instrumented treadmill. This approach allowed continuous measurement of running kinetics/kinematics and calculation of vertical and leg stiffness variables that were subsequently averaged over 3 distinct sections of the 5-second sprint (steps 2-5, 7-10, and 12-15) and for all steps (steps 2-15). Independently from the analyzed section, propulsive power and step frequency decreased with fatigue, while contact time and step length increased (P < .05). Except for step frequency, all mechanical variables varied (P < .05) across sprint sections. The only parameters that highly depend on running velocity (propulsive power and vertical stiffness) showed a significant interaction (P < .05) between the analyzed sections, with smaller magnitude of fatigue-induced change observed for steps 2-5. Considering all steps or only a few steps during early, middle, or late phases of 5-second sprints provides similar mechanical outcomes during repeated treadmill sprinting, although acceleration induces noticeable differences between the sections studied. Furthermore, quantifying mechanical alterations from the early acceleration phase may not be readily detectable, and is not recommended.

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BACKGROUND: An inverse correlation between expression of the aldehyde dehydrogenase 1 subfamily A2 (ALDH1A2) and gene promoter methylation has been identified as a common feature of oropharyngeal squamous cell carcinoma (OPSCC). Moreover, low ALDH1A2 expression was associated with an unfavorable prognosis of OPSCC patients, however the causal link between reduced ALDH1A2 function and treatment failure has not been addressed so far. METHODS: Serial sections from tissue microarrays of patients with primary OPSCC (n = 101) were stained by immunohistochemistry for key regulators of retinoic acid (RA) signaling, including ALDH1A2. Survival with respect to these regulators was investigated by univariate Kaplan-Meier analysis and multivariate Cox regression proportional hazard models. The impact of ALDH1A2-RAR signaling on tumor-relevant processes was addressed in established tumor cell lines and in an orthotopic mouse xenograft model. RESULTS: Immunohistochemical analysis showed an improved prognosis of ALDH1A2(high) OPSCC only in the presence of CRABP2, an intracellular RA transporter. Moreover, an ALDH1A2(high)CRABP2(high) staining pattern served as an independent predictor for progression-free (HR: 0.395, p = 0.007) and overall survival (HR: 0.303, p = 0.002), suggesting a critical impact of RA metabolism and signaling on clinical outcome. Functionally, ALDH1A2 expression and activity in tumor cell lines were related to RA levels. While administration of retinoids inhibited clonogenic growth and proliferation, the pharmacological inhibition of ALDH1A2-RAR signaling resulted in loss of cell-cell adhesion and a mesenchymal-like phenotype. Xenograft tumors derived from FaDu cells with stable silencing of ALDH1A2 and primary tumors from OPSCC patients with low ALDH1A2 expression exhibited a mesenchymal-like phenotype characterized by vimentin expression. CONCLUSIONS: This study has unraveled a critical role of ALDH1A2-RAR signaling in the pathogenesis of head and neck cancer and our data implicate that patients with ALDH1A2(low) tumors might benefit from adjuvant treatment with retinoids.

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NlmCategory="UNASSIGNED">Metabolic syndrome after transplantation is a major concern following solid organ transplantation (SOT). The CREB-regulated transcription co-activator 2 (CRTC2) regulates glucose metabolism. The effect of CRTC2 polymorphisms on new-onset diabetes after transplantation (NODAT) was investigated in a discovery sample of SOT recipients (n1=197). Positive results were tested for replication in two samples from the Swiss Transplant Cohort Study (STCS, n2=1294 and n3=759). Obesity and other metabolic traits were also tested. Associations with metabolic traits in population-based samples (n4=46'186, n5=123'865, n6>100,000) were finally analyzed. In the discovery sample, CRTC2 rs8450-AA genotype was associated with NODAT, fasting blood glucose and body mass index (Pcorrected<0.05). CRTC2 rs8450-AA genotype was associated with NODAT in the second STCS replication sample (odd ratio (OR)=2.01, P=0.04). In the combined STCS replication samples, the effect of rs8450-AA genotype on NODAT was observed in patients having received SOT from a deceased donor and treated with tacrolimus (n=395, OR=2.08, P=0.02) and in non-kidney transplant recipients (OR=2.09, P=0.02). Moreover, rs8450-AA genotype was associated with overweight or obesity (n=1215, OR=1.56, P=0.02), new-onset hyperlipidemia (n=1007, OR=1.76, P=0.007), and lower high-density lipoprotein-cholesterol (n=1214, β=-0.08, P=0.001). In the population-based samples, a proxy of rs8450G>A was significantly associated with several metabolic abnormalities. CRTC2 rs8450G>A appears to have an important role in the high prevalence of metabolic traits observed in patients with SOT. A weak association with metabolic traits was also observed in the population-based samples.The Pharmacogenomics Journal advance online publication, 8 December 2015; doi:10.1038/tpj.2015.82.

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Kirjallisuutta

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Social insects are promising model systems for epigenetics due to their immense morphological and behavioral plasticity. Reports that DNA methylation differs between the queen and worker castes in social insects [1-4] have implied a role for DNA methylation in regulating division of labor. To better understand the function of DNA methylation in social insects, we performed whole-genome bisulfite sequencing on brains of the clonal raider ant Cerapachys biroi, whose colonies alternate between reproductive (queen-like) and brood care (worker-like) phases [5]. Many cytosines were methylated in all replicates (on average 29.5% of the methylated cytosines in a given replicate), indicating that a large proportion of the C. biroi brain methylome is robust. Robust DNA methylation occurred preferentially in exonic CpGs of highly and stably expressed genes involved in core functions. Our analyses did not detect any differences in DNA methylation between the queen-like and worker-like phases, suggesting that DNA methylation is not associated with changes in reproduction and behavior in C. biroi. Finally, many cytosines were methylated in one sample only, due to either biological or experimental variation. By applying the statistical methods used in previous studies [1-4, 6] to our data, we show that such sample-specific DNA methylation may underlie the previous findings of queen- and worker-specific methylation. We argue that there is currently no evidence that genome-wide variation in DNA methylation is associated with the queen and worker castes in social insects, and we call for a more careful interpretation of the available data.

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Tutkimuksen tavoitteena oli kuvata hampaiden kiinnityskudossairauksien esiintyvyyttä ja suuhygieniatottumuksia Tansaniassa. Viiden eri tutkimuksen avulla kartoitettiin suuhygieniatottumuksia, kiinnityskudosten tilaa, kiinnityskudossairauksien riskitekijöitä ja hoidon tarvetta (CPITN) sekä ienvetäymiä. Tutkimukset toteutettiin eri paikkakunnilla vuosien 1987 ja 2003 välillä. Tutkittavat valittiin satunnaisesti tai harkitusti; tutkittavien määrä vaihteli 201:stä 1764:ään. Aineistot kerättiin kysymyslomakkeilla ja kliinisten tutkimusten avulla. Kliinisesti mitattiin plakin, hammaskiven ja ienten verenvuodon määrä, ientaskujen syvyys, ienvetäymien laajuus ja puuttuvien hampaiden lukumäärä. Tutkimusvälineinä käytettiin peiliä, Williamsin ja WHO:n ientaskumittareita. Muoviharjaksista hammasharjaa ilmoitti käyttävänsä 51,5-97,8% tutkituista. Ns. harjaustikun käyttö vaihteli paljon: 0,9-32,0 %. Plakkia löydettiin 65-100 %:lla tutkituista. Hammaskiveä oli suurimmalla osalla tutkituista. Myös ienverenvuotoa löytyi valtaosalta (79-100%). Ienverenvuotoa oli enemmän miehillä kuin naisilla sekä alhaisemman koulutustason omaavilla. Neljäkymmentä vuotta täyttäneiltä löydettiin 4–5 mm:n syvyisiä ientaskuja 82,1 %:lta ja ≥ 6 mm:n taskuja 43,8 %:lta. Suun terveystottumusten ohjaamiseen oli tarvetta yli 90 %:lla, hammaskiven poistoon ja juurten pinnan tasoitukseen yli 80%:lla. Yleisimmät riskitekijät kiinnityskudossairauksille olivat ikä (≥ 35 vuotta), miessukupuoli, alhainen koulutustaso, plakin, hammaskiven ja ientulehduksen määrä sekä asuminen maaseudulla. Ienvetäymiä (≥ 4 mm) löytyi noin 54%:lla tutkituista. Ienvetäymiä oli useammin miehillä kuin naisilla ja ne olivat yhteydessä ikään sekä hammaskiven ja ienverenvuodon esiintymiseen. Suuhygieniataso tutkituilla henkilöillä oli huono ja ienvetäymien esiintyvyys korkea. Syviä ientaskuja löytyi kuitenkin harvoilta tutkituilta. Riskitekijät kiinnityskudossairauksille olivat ikä, miessukupuoli, alhainen koulutustaso, plakin, hammaskiven ja ientulehduksen määrä sekä asuminen maaseudulla. Ienvetäymien riskit olivat ikä, miessukupuoli, hammaskivi ja ienverenvuoto

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A novel cantilever pressure sensor was developed in the Department of Physics at the University of Turku in order to solve the sensitivity problems which are encountered when condenser microphones are used in photoacoustic spectroscopy. The cantilever pressure sensor, combined with a laser interferometer for the measurement of the cantilever movements, proved to be highly sensitive. The original aim of this work was to integrate the sensor in a photoacoustic gas detector working in a differential measurement scheme. The integration was made successfully into three prototypes. In addition, the cantilever was also integrated in the photoacoustic FTIR measurement schemes of gas-, liquid-, and solid-phase samples. A theoretical model for the signal generation in each measurement scheme was created and the optimal celldesign discussed. The sensitivity and selectivity of the differential method were evaluated when a blackbody radiator and a mechanical chopper were used with CO2, CH4, CO, and C2H4 gases. The detection limits were in the sub-ppm level for all four gases with only a 1.3 second integration time and the cross interference was well below one percent for all gas combinations other than those between hydrocarbons. Sensitivity with other infrared sources was compared using ethylene as an example gas. In the comparison of sensitivity with different infrared sources the electrically modulated blackbody radiator gave a 35 times higher and the CO2-laser a 100 times lower detection limit than the blackbody radiator with a mechanical chopper. As a conclusion, the differential system is well suited to rapid single gas measurements. Gas-phase photoacoustic FTIR spectroscopy gives the best performance, when several components have to be analyzed simultaneously from multicomponent samples. Multicomponent measurements were demonstrated with a sample that contained different concentrations of CO2, H2O, CO, and four different hydrocarbons. It required an approximately 10 times longer measurement time to achieve the same detection limit for a single gas as with the differential system. The properties of the photoacoustic FTIR spectroscopy were also compared to conventional transmission FTIR spectroscopy by simulations. Solid- and liquid-phase photoacoustic FTIR spectroscopy has several advantages compared to other techniques and therefore it also has a great variety of applications. A comparison of the signal-to-noise ratio between photoacoustic cells with a cantilever microphone and a condenser microphone was done with standard carbon black, polyethene, and sunflower oil samples. The cell with the cantilever microphone proved to have a 5-10 times higher signal-to-noise ratio than the reference detector, depending on the sample. Cantilever enhanced photoacoustics will be an effective tool for gas detection and analysis of solid- and liquid-phase samples. The preliminary prototypes gave good results in all three measurement schemes that were studied. According to simulations, there are possibilities for further enhancement of the sensitivity, as well as other properties, of each system.

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Considerable attention has been paid to chitosan and derivatives as efficient adsorbents of pollutants such as metal ions and dyes in aqueous medium. Nevertheless, no report can be found on the remedial actions of chitosan microspheres crosslinked with tripolyphosphate to control acidity, iron (III) and manganese (II) contents in wastewaters from coal mining. In this work, chitosan microspheres crosslinked with tripolyphosphate were used for the neutralization of acidity and removal of Fe (III) and Mn (II) from coal mining wastewaters. The study involved static and dinamic methods. The neutralization capacity of the surface of the static system was 395 mmol of H3O+ per kilogram of microspheres, higher than that of the dynamic one (223 mmol kg-1). The removal of Fe(III) in wastewater was of 100% and that of Mn(II) was 90%.