High-throughput mutational analysis of TOR1A in primary dystonia

<p>Abstract</p> <p>Background</p> <p>Although the c.904_906delGAG mutation in Exon 5 of <it>TOR1A </it>typically manifests as early-onset generalized dystonia, DYT1 dystonia is genetically and clinically heterogeneous. Recently, another Exon 5 mutation (c.863G>A) has been associated with early-onset generalized dystonia and some ΔGAG mutation carriers present with late-onset focal dystonia. The aim of this study was to identify <it>TOR1A </it>Exon 5 mutations in a large cohort of subjects with mainly non-generalized primary dystonia.</p> <p>Methods</p> <p>High resolution melting (HRM) was used to examine the entire <it>TOR1A </it>Exon 5 coding sequence in 1014 subjects with primary dystonia (422 spasmodic dysphonia, 285 cervical dystonia, 67 blepharospasm, 41 writer's cramp, 16 oromandibular dystonia, 38 other primary focal dystonia, 112 segmental dystonia, 16 multifocal dystonia, and 17 generalized dystonia) and 250 controls (150 neurologically normal and 100 with other movement disorders). Diagnostic sensitivity and specificity were evaluated in an additional 8 subjects with known ΔGAG DYT1 dystonia and 88 subjects with ΔGAG-negative dystonia.</p> <p>Results</p> <p>HRM of <it>TOR1A </it>Exon 5 showed high (100%) diagnostic sensitivity and specificity. HRM was rapid and economical. HRM reliably differentiated the <it>TOR1A </it>ΔGAG and c.863G>A mutations. Melting curves were normal in 250/250 controls and 1012/1014 subjects with primary dystonia. The two subjects with shifted melting curves were found to harbor the classic ΔGAG deletion: 1) a non-Jewish Caucasian female with childhood-onset multifocal dystonia and 2) an Ashkenazi Jewish female with adolescent-onset spasmodic dysphonia.</p> <p>Conclusion</p> <p>First, HRM is an inexpensive, diagnostically sensitive and specific, high-throughput method for mutation discovery. Second, Exon 5 mutations in <it>TOR1A </it>are rarely associated with non-generalized primary dystonia.</p

Combined artificial bee colony algorithm and machine learning techniques for prediction of online consumer repurchase intention

A novel paradigm in the service sector i.e. services through the web is a progressive mechanism for rendering offerings over diverse environments. Internet provides huge opportunities for companies to provide personalized online services to their customers. But prompt novel web services introduction may unfavorably affect the quality and user gratification. Subsequently, prediction of the consumer intention is of supreme importance in selecting the web services for an application. The aim of study is to predict online consumer repurchase intention and to achieve this objective a hybrid approach which a combination of machine learning techniques and Artificial Bee Colony (ABC) algorithm has been used. The study is divided into three phases. Initially, shopping mall and consumer characteristic’s for repurchase intention has been identified through extensive literature review. Secondly, ABC has been used to determine the feature selection of consumers’ characteristics and shopping malls’ attributes (with > 0.1 threshold value) for the prediction model. Finally, validation using K-fold cross has been employed to measure the best classification model robustness. The classification models viz., Decision Trees (C5.0), AdaBoost, Random Forest (RF), Support Vector Machine (SVM) and Neural Network (NN), are utilized for prediction of consumer purchase intention. Performance evaluation of identified models on training-testing partitions (70-30%) of the data set, shows that AdaBoost method outperforms other classification models with sensitivity and accuracy of 0.95 and 97.58% respectively, on testing data set. This study is a revolutionary attempt that considers both, shopping mall and consumer characteristics in examine the consumer purchase intention.N/

Application of Kelvin method and mass spectrometry for investigation of oxide catalyst surface properties

Many oxides are applied as a catalysts for commercially important processes. Recently, decomposition of nitrous oxide into nitrogen and oxygen have became a topic of vital interest for catalytic chemistry. Two possible ways of deN2O reaction, low temperature and high-temperature, can be distinguished. Promising results were obtained for spinel oxides which contained cobalt. Because of cationic redox route, triggered by electron transfer, of N2O decomposition over these oxides, investigation of their electronic properties was justifi ed. Th erefore the work function measurements, using Kelvin method were carried out. Moreover in-situ monitoring of processes occurred at catalyst’s surface was performed using mass spectrometry

Mind the Gap: A Policy Gap Analysis of Programmes Promoting Timber Construction in Nordic Countries

The construction sector is one of the main contributors to greenhouse gas emissions and consumers of energy, making it one of the most relevant sectors when planning reduction strategies and policies. The use of timber in the built environment has been identified as a key strategy to reduce the carbon footprint of the construction sector. In this paper, we use the concept of policy gap analysis to identified underlying challenges in the implementation of timber construction on three Nordic countries, Finland, Norway, and Sweden. We carried out a series of semi-structured interviews with experts from the countries of study. The interviews came from industry, government, and construction companies. The use of the gap analysis approach was useful not only to identify areas that are being targeted but also those areas that were not covered by any programme at the time of study. The results showed that the studied programmes have a large level of coverage and congruence with the identified challenges. Moreover, they also showed that challenges related to fire safety regulations and insurance policies for timber buildings still need to be addressed, whereas the challenges of high price variability and lack of promotion are being addressed by multiple programmes. With this work, we have seen how timber construction is gaining momentum and how the challenges have been addressed systematically

Klimaaenderung und Unterweserregion (KLIMU) 'Fallstudie Weseraestuar' -Flussgebietsmodell fuer den Wasser- und Stoffhaushalt im Einzugsgebiet des Weseraestuars. Teilprojekt: Wasserwirtschaft Endbericht

SIGLEAvailable from TIB Hannover: F01B510 / FIZ - Fachinformationszzentrum Karlsruhe / TIB - Technische InformationsbibliothekBundesministerium fuer Bildung, Wissenschaft, Forschung und Technologie, Bonn (Germany)DEGerman