Paper 5: Surveillance of multiple congenital anomalies: implementation of a computer algorithm in European registers for classification of cases.

BACKGROUND: Surveillance of multiple congenital anomalies is considered to be more sensitive for the detection of new teratogens than surveillance of all or isolated congenital anomalies. Current literature proposes the manual review of all cases for classification into isolated or multiple congenital anomalies. METHODS: Multiple anomalies were defined as two or more major congenital anomalies, excluding sequences and syndromes. A computer algorithm for classification of major congenital anomaly cases in the EUROCAT database according to International Classification of Diseases (ICD)v10 codes was programmed, further developed, and implemented for 1 year's data (2004) from 25 registries. The group of cases classified with potential multiple congenital anomalies were manually reviewed by three geneticists to reach a final agreement of classification as "multiple congenital anomaly" cases. RESULTS: A total of 17,733 cases with major congenital anomalies were reported giving an overall prevalence of major congenital anomalies at 2.17%. The computer algorithm classified 10.5% of all cases as "potentially multiple congenital anomalies". After manual review of these cases, 7% were agreed to have true multiple congenital anomalies. Furthermore, the algorithm classified 15% of all cases as having chromosomal anomalies, 2% as monogenic syndromes, and 76% as isolated congenital anomalies. The proportion of multiple anomalies varies by congenital anomaly subgroup with up to 35% of cases with bilateral renal agenesis. CONCLUSIONS: The implementation of the EUROCAT computer algorithm is a feasible, efficient, and transparent way to improve classification of congenital anomalies for surveillance and research.

Fuzzy logic algorithm to extract specific interaction forces from atomic force microscopy data

The atomic force microscope is not only a very convenient tool for studying the topography of different samples, but it can also be used to measure specific binding forces between molecules. For this purpose, one type of molecule is attached to the tip and the other one to the substrate. Approaching the tip to the substrate allows the molecules to bind together. Retracting the tip breaks the newly formed bond. The rupture of a specific bond appears in the force-distance curves as a spike from which the binding force can be deduced. In this article we present an algorithm to automatically process force-distance curves in order to obtain bond strength histograms. The algorithm is based on a fuzzy logic approach that permits an evaluation of "quality" for every event and makes the detection procedure much faster compared to a manual selection. In this article, the software has been applied to measure the binding strength between tubuline and microtubuline associated proteins.

Diagnostic algorithm for a validated displacement grading of pediatric supracondylar fractures.

Background: The first AO comprehensive pediatric long bone fracture classification system has been established following a structured path of development and validation with experienced pediatric surgeons. Methods: A follow-up series of agreement studies was applied to specify and evaluate a grading system for displacement of pediatric supracondylar fractures. An iterative process comprising an international group of 5 experienced pediatric surgeons (Phase 1) followed by a pragmatic multicenter agreement study involving 26 raters (Phase 2) was used. The last evaluations were conducted on a consecutive collection of 154 supracondylar fractures documented by standard anteroposterior and lateral radiographs. Results: Fractures were classified according to 1 of 4 grades: I = incomplete fracture with no or minimal displacement; II = Incomplete fracture with continuity of the posterior (extension fracture) or anterior cortex (flexion fracture); III = lack of bone continuity (broken cortex), but still some contact between the fracture planes; IV = complete fracture with no bone continuity (broken cortex), and no contact between the fracture planes. A diagnostic algorithm to support the practical application of the grading system in a clinical setting, as well as an aid using a circle placed over the capitellum was proposed. The overall kappa coefficients were 0.68 and 0.61 in the Phase 1 and Phase 2 studies, respectively. In the Phase 1 study, fracture grades I, II, III, and IV were classified with median accuracies of 91%, 82%, 83%, and 99.5%, respectively. Similar median accuracies of 86% (Grade I), 73% (Grade II), 83%(Grade III), and 92% were reported for the Phase 2 study. Reliability was high in distinguishing complete, unstable fractures from stable injuries [ie, kappa coefficients of 0.84 (Phase 1) and 0.83 (Phase 2) were calculated]; in Phase 2, surgeons' accuracies in classifying complete fractures were all above 85%. Conclusions: With clear and unambiguous definition, this new grading system for supracondylar fracture displacement has proved to be sufficiently reliable and accurate when applied by pediatric surgeons in the framework of clinical routine as well as research.

Enhanced compressed sensing recovery with level set normals.

We propose a compressive sensing algorithm that exploits geometric properties of images to recover images of high quality from few measurements. The image reconstruction is done by iterating the two following steps: 1) estimation of normal vectors of the image level curves, and 2) reconstruction of an image fitting the normal vectors, the compressed sensing measurements, and the sparsity constraint. The proposed technique can naturally extend to nonlocal operators and graphs to exploit the repetitive nature of textured images to recover fine detail structures. In both cases, the problem is reduced to a series of convex minimization problems that can be efficiently solved with a combination of variable splitting and augmented Lagrangian methods, leading to fast and easy-to-code algorithms. Extended experiments show a clear improvement over related state-of-the-art algorithms in the quality of the reconstructed images and the robustness of the proposed method to noise, different kind of images, and reduced measurements.

El Land-Art a l'educació 0-3: l'expressió lliure i la comprensió del medi a través de l'art i la natura

Actualment el Land – Art és un moviment poc conegut i difós en la vessant educativa. Aquest treball pretén treure a la llum i transmetre l’essència d’aquest moviment enriquidor cap als infants. Tant és així, que el Land – Art esdevé una eina d’aprenentatge innovadora en el primer cicle d’Educació Infantil a través d’una metodologia constructivista que involucra a tota la comunitat educativa: professionals, família i alumnes. L’objectiu del present projecte és l’ús d’aquest moviment com instrument d’aprenentatge per tal d’observar i analitzar uns resultats que s’han anat construint a partir d’una hipòtesi: “El Land – Art a l’Educació 0-3 fomenta l’expressió lliure i la comprensió del medi”. En aquest treball trobarem, en primer lloc, el marc teòric del projecte; en segon lloc, el seu mètode d’investigació; en tercer lloc, la vessant pràctica del projecte; i, en quart i darrer lloc, les conclusions que reflecteixen la part comparativa entre el marc teòric i la part pràctica, on es finalitzarà amb les reflexions finals.

El treball cooperatiu com a mètode d'experimentació en l'art : treballar l'educació artística a l'educació infantil

Els objectius de l’estudi realitzat en aquest treball són: comprovar que l’educació artística també pot ser una eina d’inclusió a l’escola, conèixer els beneficis de l’experimentació/exploració en l’art, i observar com aquests influeixen en l’aprenentatge dels infants, i finalment veure els beneficis del treball cooperatiu com a mètode d’experimentació en l’art. L’estudi s’ha realitzat a partir d’ una recerca teòrica i duent a terme una part pràctica de vàries sessions amb la col·laboració dels infants de P4 de l’escola Joan XXIII d’Hostalets de Balenyà. La pràctica s’ha anomenat “Art amb pedres”, que com el seu nom indica, les pedres eren l’element natural que han utilitzat els infants per a convertir-se en verdaders artistes!

Multiway Array Decomposition Analysis of EEGs in Alzheimer’s Disease

Methods for the extraction of features from physiological datasets are growing needs as clinical investigations of Alzheimer’s disease (AD) in large and heterogeneous population increase. General tools allowing diagnostic regardless of recording sites, such as different hospitals, are essential and if combined to inexpensive non-invasive methods could critically improve mass screening of subjects with AD. In this study, we applied three state of the art multiway array decomposition (MAD) methods to extract features from electroencephalograms (EEGs) of AD patients obtained from multiple sites. In comparison to MAD, spectral-spatial average filter (SSFs) of control and AD subjects were used as well as a common blind source separation method, algorithm for multiple unknown signal extraction (AMUSE). We trained a feed-forward multilayer perceptron (MLP) to validate and optimize AD classification from two independent databases. Using a third EEG dataset, we demonstrated that features extracted from MAD outperformed features obtained from SSFs AMUSE in terms of root mean squared error (RMSE) and reaching up to 100% of accuracy in test condition. We propose that MAD maybe a useful tool to extract features for AD diagnosis offering great generalization across multi-site databases and opening doors to the discovery of new characterization of the disease.

L'Experiència autobiogràfica, l'art i el compromís ètic de l'escriptor: tres eixos de la narrativa de Maria Àngels Anglada

L’obra de M. Àngels Anglada constitueix un tramat complex de lectures i influències que s’interpreta a través de nivells de significació i d’interessos que s’entrecreuen. Com a pilar que sosté tot aquest corpus hi ha un gran bagatge clàssic i una vasta formació literària que, juntament amb l’experiència vital i el posicionament ètic de l’autora, proporcionen les claus de lectura dels seus llibres. Partint d’aquesta idea, l’article aprofundeix en els tres aspectes que considerem eixos fonamentals de l’obra de l’escriptora: els elements autobiogràfics, l’art i el compromís social.

An efficient algorithm to perform multiple testing in epistasis screening

Background: Research in epistasis or gene-gene interaction detection for human complex traits has grown over the last few years. It has been marked by promising methodological developments, improved translation efforts of statistical epistasis to biological epistasis and attempts to integrate different omics information sources into the epistasis screening to enhance power. The quest for gene-gene interactions poses severe multiple-testing problems. In this context, the maxT algorithm is one technique to control the false-positive rate. However, the memory needed by this algorithm rises linearly with the amount of hypothesis tests. Gene-gene interaction studies will require a memory proportional to the squared number of SNPs. A genome-wide epistasis search would therefore require terabytes of memory. Hence, cache problems are likely to occur, increasing the computation time. In this work we present a new version of maxT, requiring an amount of memory independent from the number of genetic effects to be investigated. This algorithm was implemented in C++ in our epistasis screening software MBMDR-3.0.3. We evaluate the new implementation in terms of memory efficiency and speed using simulated data. The software is illustrated on real-life data for Crohn’s disease. Results: In the case of a binary (affected/unaffected) trait, the parallel workflow of MBMDR-3.0.3 analyzes all gene-gene interactions with a dataset of 100,000 SNPs typed on 1000 individuals within 4 days and 9 hours, using 999 permutations of the trait to assess statistical significance, on a cluster composed of 10 blades, containing each four Quad-Core AMD Opteron(tm) Processor 2352 2.1 GHz. In the case of a continuous trait, a similar run takes 9 days. Our program found 14 SNP-SNP interactions with a multiple-testing corrected p-value of less than 0.05 on real-life Crohn’s disease (CD) data. Conclusions: Our software is the first implementation of the MB-MDR methodology able to solve large-scale SNP-SNP interactions problems within a few days, without using much memory, while adequately controlling the type I error rates. A new implementation to reach genome-wide epistasis screening is under construction. In the context of Crohn’s disease, MBMDR-3.0.3 could identify epistasis involving regions that are well known in the field and could be explained from a biological point of view. This demonstrates the power of our software to find relevant phenotype-genotype higher-order associations.

A Canonical Genetic Algorithm for Blind Inversion of Linear Channels

It is well known the relationship between source separation and blind deconvolution: If a filtered version of an unknown i.i.d. signal is observed, temporal independence between samples can be used to retrieve the original signal, in the same manner as spatial independence is used for source separation. In this paper we propose the use of a Genetic Algorithm (GA) to blindly invert linear channels. The use of GA is justified in the case of small number of samples, where other gradient-like methods fails because of poor estimation of statistics.

How Millennials are changing the way of learning: the state of the art of ICT integration in education

Millennials generation is changing the way of learning, prompting educational institutions to attempt to better adapt to young needs by incorporating technologies into education. Based on this premise, we have reviewed the prominent reports of the integration of ICT into education with the aim of evidencing how education is changing, and will change, to meet the needs ofMillennials with ICT support. We conclude that most of the investments have simply resulted in an increase of computers and access to the Internet, with teachers reproducing traditional approaches to education and e-learning being seen as complementary to face-to-face education. While it would seem that the use of ICT is not revolutionizing learning, it is facilitating the personalization, collaboration and ubiquity of learning.

La autoreferencialidad en el arte. El metalenguaje en el medio digital. L'autoreferencialitat en l'art. El metallenguatge en el mitjà digital.

Este artículo analiza las obras de algunos artistas digitales que utilizan los recursos propios del medio digital como mensaje central. Nuestra intención será exponer las múltiples formas de utilizar, desarrollar y manipular el metalenguaje. Primeramente, con la intención de comprender estas obras, se elabora un contexto en que se plantearán unos precedentes, para ver, en una segunda parte, cómo el metalenguaje en nuestra actualidad artística y digital vuelve a ser muy utilizado, de manera que llega a convertirse en una metodología característica del arte contemporáneo y de los medios digitales. Palabras clave aleatoriedad, simulación, glitch, net art, interfaz, reactividad, interactividad