Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe.

Oculo-auriculo-vertebral spectrum is a complex developmental disorder characterised mainly by anomalies of the ear, hemifacial microsomia, epibulbar dermoids and vertebral anomalies. The aetiology is largely unknown, and the epidemiological data are limited and inconsistent. We present the largest population-based epidemiological study to date, using data provided by the large network of congenital anomalies registries in Europe. The study population included infants diagnosed with oculo-auriculo-vertebral spectrum during the 1990-2009 period from 34 registries active in 16 European countries. Of the 355 infants diagnosed with oculo-auriculo-vertebral spectrum, there were 95.8% (340/355) live born, 0.8% (3/355) fetal deaths, 3.4% (12/355) terminations of pregnancy for fetal anomaly and 1.5% (5/340) neonatal deaths. In 18.9%, there was prenatal detection of anomaly/anomalies associated with oculo-auriculo-vertebral spectrum, 69.7% were diagnosed at birth, 3.9% in the first week of life and 6.1% within 1 year of life. Microtia (88.8%), hemifacial microsomia (49.0%) and ear tags (44.4%) were the most frequent anomalies, followed by atresia/stenosis of external auditory canal (25.1%), diverse vertebral (24.3%) and eye (24.3%) anomalies. There was a high rate (69.5%) of associated anomalies of other organs/systems. The most common were congenital heart defects present in 27.8% of patients. The prevalence of oculo-auriculo-vertebral spectrum, defined as microtia/ear anomalies and at least one major characteristic anomaly, was 3.8 per 100,000 births. Twinning, assisted reproductive techniques and maternal pre-pregnancy diabetes were confirmed as risk factors. The high rate of different associated anomalies points to the need of performing an early ultrasound screening in all infants born with this disorder.

Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe.

Meckel-Gruber Syndrome is a rare autosomal recessive lethal ciliopathy characterized by the triad of cystic renal dysplasia, occipital encephalocele and postaxial polydactyly. We present the largest population-based epidemiological study to date using data provided by the European Surveillance of Congenital Anomalies (EUROCAT) network. The study population consisted of 191 cases of MKS identified between January 1990 and December 2011 in 34 European registries. The mean prevalence was 2.6 per 100 000 births in a subset of registries with good ascertainment. The prevalence was stable over time, but regional differences were observed. There were 145 (75.9%) terminations of pregnancy after prenatal diagnosis, 13 (6.8%) fetal deaths, 33 (17.3%) live births. In addition to cystic kidneys (97.7%), encephalocele (83.8%) and polydactyly (87.3%), frequent features include other central nervous system anomalies (51.4%), fibrotic/cystic changes of the liver (65.5% of cases with post mortem examination) and orofacial clefts (31.8%). Various other anomalies were present in 64 (37%) patients. As nowadays most patients are detected very early in pregnancy when liver or kidney changes may not yet be developed or may be difficult to assess, none of the anomalies should be considered obligatory for the diagnosis. Most cases (90.2%) are diagnosed prenatally at 14.3±2.6 (range 11-36) gestational weeks and pregnancies are mainly terminated, reducing the number of LB to one-fifth of the total prevalence rate. Early diagnosis is important for timely counseling of affected couples regarding the option of pregnancy termination and prenatal genetic testing in future pregnancies.

The relative salience of facial features when differentiating faces based on an interference paradigm

Research on face recognition and social judgment usually addresses the manipulation of facial features (eyes, nose, mouth, etc.). Using a procedure based on a Stroop-like task, Montepare and Opeyo (J Nonverbal Behav 26(1):43-59, 2002) established a hierarchy of the relative salience of cues based on facial attributes when differentiating faces. Using the same perceptual interference task, we established a hierarchy of facial features. Twenty-three participants (13 men and 10 women) volunteered for the experiment to compare pairs of frontal faces. The participants had to judge if the eyes, nose, mouth and chin in the pair of images were the same or different. The factors manipulated were the target-distractive factor (4 face components 9 3 distractive factors), interference (absent vs. present) and correct answer (the same vs. different). The analysis of reaction times and errors showed that the eyes and mouth were processed before the chin and nose, thus highlighting the critical importance of the eyes and mouth, as shown by previous research.

Measuring mobile WAP protocol based services

WAP tulee olemaan tulevaisuudessa tärkeässä roolissa, kun etsitään sopivaa tiedonsiirtoprotokollaa uusille mobiilipalveluille. Vaikka WAP jollain tavalla epäonnistui ensimmäisessä tulemisessaan sen suosio varmasti tulevaisuudessa tulee kasvamaan. WAP:in heikko suosio ei johtunut niinkään protokollan tiedonsiirto ominaisuuksista, vaan WAP-palveluiden kehittymättömyydestä. Tulevaisuuden palvelut kuitenkin ovat kehittyneempiä ja WAP:in suosio tulee kasvamaan. Viimeisimpänä WAP:ia käyttävänä palveluna on esitelty MMS. Kun uudet WAP:iin pohjautuvat palvelut yleistyvät, asettaa se uusia vaatimuksia myös WAP gateway:lle. Työssä tarkastellaan erilaisia mahdollisuuksia mitata mobiilisti WAP palvelujen palvelun tasoa. Työssä myös toteutetaan mobiili WAP palveluiden mittauskomponentti, joka toimii osana laajempaa ohjelmistoa. Tarkoituksena on toteuttaa mittauskomponentti, joka emuloi mahdollisimman hyvin todellista loppukäyttäjää.

Features extraction based on the Discrete Hartley Transform for closed contour

In this paper the authors propose a new closed contour descriptor that could be seen as a Feature Extractor of closed contours based on the Discrete Hartley Transform (DHT), its main characteristic is that uses only half of the coefficients required by Elliptical Fourier Descriptors (EFD) to obtain a contour approximation with similar error measure. The proposed closed contour descriptor provides an excellent capability of information compression useful for a great number of AI applications. Moreover it can provide scale, position and rotation invariance, and last but not least it has the advantage that both the parameterization and the reconstructed shape from the compressed set can be computed very efficiently by the fast Discrete Hartley Transform (DHT) algorithm. This Feature Extractor could be useful when the application claims for reversible features and when the user needs and easy measure of the quality for a given level of compression, scalable from low to very high quality.

Features of a Ziegler-Natta catalyst prepared with the Sirius emulsion-based catalyst production technology

Traditionellt har man ansett att Ziegler-Natta katalysatorer för framställning av polypropen bör ha stor inre yta och hög porositet för att ge hög aktivitet och bra polymerpartikelmorfologi. Den av Borealis utvecklade Sirius emulsionsbaserade katalysatortillverkningsteknologin ger katalysatorer utan mätbar inre yta och porositet. Katalysatorn ger, trots sin kompakthet, polymerpartiklar med utmärkt morfologi och har hög aktivitet. Sirius katalysatorns prestanda, beträffande polymerisationskinetik och polymerstruktur, undersöktes i detta doktorsarbete. En jämn och kontrollerad tidig fragmentering av katalysatorn är av största vikt för att uppnå bra partikelmorfologi i en kommersiell process. Det visades att fragmenteringen av Sirius katalysatorn under de första sekunderna och minuterna av reaktionen framskred på ett homogent sätt. Oligomerhalten i den slutliga produkten är viktig i många applikationer, tex. i applikationer där polymeren kommer i kontakt med mat. Polymerer producerade med Sirius katalysatorn hade en låg oligomerhalt på grund av den smala molekylviktsfördelningen. Analys av kedjeändorna avslöjade att Sirius katalysatorn hade en hög frekvens av kedjeöverföring till monomer, vilket förklarade Sirius katalysatorns något begränsade förmåga att producera polymerer med hög molekylvikt. Sampolymerer av propen och eten producerade med Sirius uppvisade jämnare eten fördelning mellan långa och korta kedjor samt en mera randomiserad fördelning av eten längs med kedjorna än med den konventionella referenskatalysatorn. Tillsammans med den smala molekylviktsfördelningen indikerade resultaten att fördelningen av typer av aktiva centrum i Sirius katalysatorn är smal. Då man producerar polypropen med hög slagseghet skall polymerpartiklarna ha hög porositet för att kunna ackumulera eten/propen gummit. SiO2 nanopartiklar tillsatta under framställningen av Sirius katalysatorn ökade polymerpartikelns porositet, vilket möjliggjorde en dramatisk ökning av gummihalten.

Creating an open-books implementation framework for a maintenance-related value-based life-cycle model

This study is a qualitative action research by its nature with elements of personal design in the form of a tangible model implementation framework construction. Utilized empirical data has been gathered via two questionnaires in relation to the arranged four workshop events with twelve individual participants. Five of them represented maintenance customers, three maintenance service providers and four equipment providers respectively. Further, there are two main research objectives in proportion to the two complementary focusing areas of this thesis. Firstly, the value-based life-cycle model, which first version has already been developed prior to this thesis, requires updating in order to increase its real-life applicability as an inter-firm decision-making tool in industrial maintenance. This first research objective is fulfilled by improving appearance, intelligibility and usability of the above-mentioned model. In addition, certain new features are also added. The workshop participants from the collaborating companies were reasonably pleased with made changes, although further attention will be required in future on the model’s intelligibility in particular as main results, charts and values were all reckoned as slightly hard to understand. Moreover, upgraded model’s appearance and added new features satisfied them the most. Secondly and more importantly, the premises of the model’s possible inter-firm implementation process need to be considered. This second research objective is delivered in two consecutive steps. At first, a bipartite open-books supported implementation framework is created and its different characteristics discussed in theory. Afterwards, the prerequisites and the pitfalls of increasing inter-organizational information transparency are studied in empirical context. One of the main findings was that the organizations are not yet prepared for network-wide information disclosure as dyadic collaboration was favored instead. However, they would be willing to share information bilaterally at least. Another major result was that the present state of companies’ cost accounting systems will definitely need implementation-wise enhancing in future since accurate and sufficiently detailed maintenance data is not available. Further, it will also be crucial to create supporting and mutually agreed network infrastructure. There are hardly any collaborative models, methods or tools currently in usage. Lastly, the essential questions about mutual trust and predominant purchasing strategies are cooperation-wise important. If inter-organizational activities are expanded, a more relational approach should be favored in this regard. Mutual trust was also recognized as a significant cooperation factor, but it is hard to measure in reality.

Main features of DNA-based immunization vectors

DNA-based immunization has initiated a new era of vaccine research. One of the main goals of gene vaccine development is the control of the levels of expression in vivo for efficient immunization. Modifying the vector to modulate expression or immunogenicity is of critical importance for the improvement of DNA vaccines. The most frequently used vectors for genetic immunization are plasmids. In this article, we review some of the main elements relevant to their design such as strong promoter/enhancer region, introns, genes encoding antigens of interest from the pathogen (how to choose and modify them), polyadenylation termination sequence, origin of replication for plasmid production in Escherichia coli, antibiotic resistance gene as selectable marker, convenient cloning sites, and the presence of immunostimulatory sequences (ISS) that can be added to the plasmid to enhance adjuvanticity and to activate the immune system. In this review, the specific modifications that can increase overall expression as well as the potential of DNA-based vaccination are also discussed.

Generative Part-Based Gabor Object Detector

Object detection is a fundamental task of computer vision that is utilized as a core part in a number of industrial and scientific applications, for example, in robotics, where objects need to be correctly detected and localized prior to being grasped and manipulated. Existing object detectors vary in (i) the amount of supervision they need for training, (ii) the type of a learning method adopted (generative or discriminative) and (iii) the amount of spatial information used in the object model (model-free, using no spatial information in the object model, or model-based, with the explicit spatial model of an object). Although some existing methods report good performance in the detection of certain objects, the results tend to be application specific and no universal method has been found that clearly outperforms all others in all areas. This work proposes a novel generative part-based object detector. The generative learning procedure of the developed method allows learning from positive examples only. The detector is based on finding semantically meaningful parts of the object (i.e. a part detector) that can provide additional information to object location, for example, pose. The object class model, i.e. the appearance of the object parts and their spatial variance, constellation, is explicitly modelled in a fully probabilistic manner. The appearance is based on bio-inspired complex-valued Gabor features that are transformed to part probabilities by an unsupervised Gaussian Mixture Model (GMM). The proposed novel randomized GMM enables learning from only a few training examples. The probabilistic spatial model of the part configurations is constructed with a mixture of 2D Gaussians. The appearance of the parts of the object is learned in an object canonical space that removes geometric variations from the part appearance model. Robustness to pose variations is achieved by object pose quantization, which is more efficient than previously used scale and orientation shifts in the Gabor feature space. Performance of the resulting generative object detector is characterized by high recall with low precision, i.e. the generative detector produces large number of false positive detections. Thus a discriminative classifier is used to prune false positive candidate detections produced by the generative detector improving its precision while keeping high recall. Using only a small number of positive examples, the developed object detector performs comparably to state-of-the-art discriminative methods.

Instrumental color and sensory acceptance of soy-based emulsions: a response surface approach

Response Surface Methodology (RSM) was applied to evaluate the chromatic features and sensory acceptance of emulsions that combine Soy Protein (SP) and red Guava Juice (GJ). The parameters analyzed were: instrumental color based on the coordinates a* (redness), b* (yellowness), L* (lightness), C* (chromaticity), h* (hue angle), visual color, acceptance, and appearance. The analyses of the results showed that GJ was responsible for the high measured values of red color, hue angle, chromaticity, acceptance, and visual color, whereas SP was the variable that increased the yellowness intensity of the assays. The redness (R²adj = 74.86%, p < 0.01) and hue angle (R²adj = 80.96%, p < 0.01) were related to the independent variables by linear models, while the sensory data (color and acceptance) could not be modeled due to a high variability. The models of yellowness, lightness, and chromaticity did not present lack of fit but presented adjusted determination coefficients bellow 70%. Notwithstanding, the linear correlations between sensory and instrumental data were not significant (p > 0.05) and low Pearson coefficients were obtained. The results showed that RSM is a useful tool to develop soy-based emulsions and model some chromatic features of guava-based emulsions through RSM.

Urban Detection From Hyperspectral Images Using Dimension-Reduction Model and Fusion of Multiple Segmentations Based on Stuctural and Textural Features

Ce mémoire de maîtrise présente une nouvelle approche non supervisée pour détecter et segmenter les régions urbaines dans les images hyperspectrales. La méthode proposée n ́ecessite trois étapes. Tout d’abord, afin de réduire le coût calculatoire de notre algorithme, une image couleur du contenu spectral est estimée. A cette fin, une étape de réduction de dimensionalité non-linéaire, basée sur deux critères complémentaires mais contradictoires de bonne visualisation; à savoir la précision et le contraste, est réalisée pour l’affichage couleur de chaque image hyperspectrale. Ensuite, pour discriminer les régions urbaines des régions non urbaines, la seconde étape consiste à extraire quelques caractéristiques discriminantes (et complémentaires) sur cette image hyperspectrale couleur. A cette fin, nous avons extrait une série de paramètres discriminants pour décrire les caractéristiques d’une zone urbaine, principalement composée d’objets manufacturés de formes simples g ́eométriques et régulières. Nous avons utilisé des caractéristiques texturales basées sur les niveaux de gris, la magnitude du gradient ou des paramètres issus de la matrice de co-occurrence combinés avec des caractéristiques structurelles basées sur l’orientation locale du gradient de l’image et la détection locale de segments de droites. Afin de réduire encore la complexité de calcul de notre approche et éviter le problème de la ”malédiction de la dimensionnalité” quand on décide de regrouper des données de dimensions élevées, nous avons décidé de classifier individuellement, dans la dernière étape, chaque caractéristique texturale ou structurelle avec une simple procédure de K-moyennes et ensuite de combiner ces segmentations grossières, obtenues à faible coût, avec un modèle efficace de fusion de cartes de segmentations. Les expérimentations données dans ce rapport montrent que cette stratégie est efficace visuellement et se compare favorablement aux autres méthodes de détection et segmentation de zones urbaines à partir d’images hyperspectrales.

Content Based Image Retrieval Using Low Level Features of Automatically Extracted Regions of Interest

This paper proposes a region based image retrieval system using the local colour and texture features of image sub regions. The regions of interest (ROI) are roughly identified by segmenting the image into fixed partitions, finding the edge map and applying morphological dilation. The colour and texture features of the ROIs are computed from the histograms of the quantized HSV colour space and Gray Level co- occurrence matrix (GLCM) respectively. Each ROI of the query image is compared with same number of ROIs of the target image that are arranged in the descending order of white pixel density in the regions, using Euclidean distance measure for similarity computation. Preliminary experimental results show that the proposed method provides better retrieving result than retrieval using some of the existing methods.

An approach to visual servoing based on coded light

Positioning a robot with respect to objects by using data provided by a camera is a well known technique called visual servoing. In order to perform a task, the object must exhibit visual features which can be extracted from different points of view. Then, visual servoing is object-dependent as it depends on the object appearance. Therefore, performing the positioning task is not possible in presence of non-textured objects or objects for which extracting visual features is too complex or too costly. This paper proposes a solution to tackle this limitation inherent to the current visual servoing techniques. Our proposal is based on the coded structured light approach as a reliable and fast way to solve the correspondence problem. In this case, a coded light pattern is projected providing robust visual features independently of the object appearance

Robust decoupled visual servoing based on structured light

This paper focuses on the problem of realizing a plane-to-plane virtual link between a camera attached to the end-effector of a robot and a planar object. In order to do the system independent to the object surface appearance, a structured light emitter is linked to the camera so that 4 laser pointers are projected onto the object. In a previous paper we showed that such a system has good performance and nice characteristics like partial decoupling near the desired state and robustness against misalignment of the emitter and the camera (J. Pages et al., 2004). However, no analytical results concerning the global asymptotic stability of the system were obtained due to the high complexity of the visual features utilized. In this work we present a better set of visual features which improves the properties of the features in (J. Pages et al., 2004) and for which it is possible to prove the global asymptotic stability