Analysis of Genotype, Phenotype, and Age Progression in Phelan-McDermid Syndrome

Phelan-McDermid syndrome is a developmental disability syndrome associated with deletions of the terminal end of one copy of chromosome 22q13. The observed chromosomal aberrations include simple terminal deletions, interstitial deletions, deletions and duplications, and duplications without deletions. All patients have some degree of developmental disability and many also have hypotonia, autism, minor dysmorphic features, and seizures. I performed an epidemiological and cytogenetic investigation to better understand the etiology of Phelan-McDermid syndrome and to provide information to patients and their families, clinicians, and researchers investigating developmental disabilities. Deletions vary widely in size, from 60 kb to more than 9 Mb, but almost all cases are missing one copy of the subtelomeric gene SHANK3, a candidate gene for neurological features. The results of this study established that larger deletions are associated with more severe disability establishing the rationale to investigate the role of additional genes or genomic regions for clinical features. Statistical association analyses identified specific genomic regions as associated with 22 clinical features. In particular, speech is highly correlated with deletion size indicating that speech-related genes or genomic elements located in genomic bands 22q13.2q13.31 may be critical in determining a patient\u27s ability to communicate verbally. The use of protein interaction networks identified candidate genes within these narrowed genomic regions. Also, a longitudinal assessment of phenotypes observed among individuals aged 0.4 to 64 years established significant variation of phenotypes by age, such that future investigations need to take age into account when conducting genotype-phenotype studies. In particular, we find that behavioral difficulties subside and low muscle tone becomes less prominent as children age, however seizures, autism, and some chronic diseases become more apparent in teens and adults

Representación externa de figuras planas y razonamiento geométrico

En este texto se analiza, en primer lugar, la posible conexión entre las destrezas de representación externa de figuras planas y el desarrollo de los niveles de razonamiento. Para ello se realizó un amplio estudio entre estudiantes de enseñanza obligatoria, bachillerato y universidad, cuyos resultados sugieren una respuesta positiva a la primera cuestión. Posteriormente, se formula una propuesta de nuevos descriptores para los niveles de razonamiento, en relación a la representación externa de figuras planas, que pueden contribuir a una mejor clarificación de aquellos y a una mayor integración curricular del modelo de Van Hiele

Approche critique de l'enseignement de la littérature basque

Podemos considerar que Eusqueraren berri onac eta ondo escribitceco, ondo iracurteco, ta ondo itzegiteco erreglac publicado por Agustín Cardaveraz en 1761 constituye el primer texto creado para el aprendizaje de los modelos vascos. Sin embargo, hasta el siglo XX la literatura vasca no será convenientemente enseñada. Hasta que tras la Segunda Guerra Mundial, René Lafon en la universidad de Burdeos y Koldo Mitxelena en la de Salamanca no comenzaran a enseñar la literatura vasca. En 1980 se crearon las primeras cátedras de Lengua y Literatura Vasca en los Institutos de Bachiller de Euskal Herria y, a continuación, la enseñanza de la literatura vasca ha tenido una difusión creciente por el mundo.Euskal ereduak ikasteko sortutako lehen testutzat jo dezakegu 1761ean Agustin Kardaberazek plazaratu, Eusqueraren berri onac eta ondo escribitceco, ondo iracurteco, ta ondo itzegiteco erreglac. Halere XX. menderarte ez da euskal literatura irakatsiko taxuz. Bigarren Mundu-Gerlaren ondoren hasi arte Bordeleko unibertsitatean René Lafon eta Salamankakoan Koldo Mitxelena euskal literatura irakasten. 1980ean sortu ziren Euskal Herrian Batxiler Institutuetako lehen Euskara eta Euskal Literatura katedrak, eta ondoren munduan zehar gero eta hedadura handiagoa du euskal literaturaren irakaskintzak.Nous pouvons considérer qu'Eusqueraren berri onac eta ondo escribitceco, ondo iracurteco, ta ondo itzegiteco erreglac publié par Agustin Cardaveraz en 1761 constitue le premier texte créé par l'apprentissage des modèles basques. Pourtant, jusqu'au XXe siècle la littérature basque ne sera pas convenablement enseignée, jusqu'à ce qu'après la Seconde Guerre Mondiale, René Lafon ne commence à enseigner la littérature basque à l'université de Bordeaux et Koldo Mitxelena à celle de Salamanque. En 1980 les premières chaires de Langue et Littérature Basque furent créées dans les Institutos de Bachiller (Instituts de Bacheliers) d'Euskal Herria et, ensuite, l'enseignement de la littérature basque a connu une diffusion croissante dans le monde.We can consider that Eusqueraren berri onac eta ondo escribitceco, ondo iracurteco, ta ondo itzegiteco erreglac published by Agustín Cardaveraz in 1761 constitutes the first text created for the learning of Basque models. However, up until the twentieth century, Basque literature was not to be taught in a convenient manner. Until after World War II, René Lafon at the University of Bordeaux and Koldo Mitxelena in the University of Salamanca did not begin to teach Basque literature. In 1980, the first professorships on Basque Language and Literature were created in the Secondary Education Institutes in the Basque Country and, thereinafter, the teaching of Basque literature has enjoyed a growing dissemination throughout the world

Fundamentos y aplicaciones de la Geografía de la Salud

En este Trabajo de Fin de Grado se pretende abordar de manera sintetizada los fundamentos así como los objetivos y las aplicaciones de la disciplina de la Geografía de la Salud, mostrando a la vez, una selección de ejemplos relevantes. Se desea realizar una síntesis acerca de este campo de estudio incipiente en la actualidad e intentar poner al día aspectos y temáticas poco usuales

Observational and modelling analysis of pollutant concentrations and meteorological factors in Andorra: A thermal inversion case study

Màster de Meteorologia, Facultat de Física, Universitat de Barcelona. Curs: 2021-2022. Tutora: Mireia Udina i SistachThe behavior of pollutants in urbanized mountainous areas is complex due to the interactions between the atmosphere and the orography, and frequent thermal inversions inside the valleys can lead to critical contamination episodes that are detrimental to the environment. This work aims to analyze the behavior of pollutants in a complex orography area like the Central Valley of Andorra and to test the interpretability of WRF in an observed persistent thermal inversion case in the area. Anthropogenic impact on primary pollutants like NO2 and PM10 and the higher dependence of the secondary contaminant O3 on meteorological variables are observed. The Random Forest Regression machine learning model shows that thermal inversions have great importance in the levels of pollutants at the bottom of the valley and also that O3 has a high dependence on relative humidity. The WRF model at higher horizontal resolutions is capable of resolving slope and valley winds but can not interpret well the observed thermal inversions. Increased vertical resolution appears to have little effect on outputs and the need for improved model parameterizations formountain areas is highlighte

Community-based health financing: CARE India's experience in the maternal and infant survival project

In a rural Indian population beset with inadequate health access due to socio-cultural and economic factors, CARE India under the Maternal and Infant Survival Project encouraged village women to form Community Based Organizations (CBOs) and to save health funds collectively. After 15 months of implementation, CBOs were formed in 345 of 447 project villages and health funds were operational in 203 villages. A total of 292 persons benefited from health funds through loans for treatment of obstetric complications and infant illnesses. Additional initiatives include social marketing, sales of disposable delivery kits, and village drug banks. Over half (56 percent) of the loans were repaid within the grace/low interest period. This experience demonstrates that village women, when appropriately encouraged, are capable of creating rules and managing health funds. The process empowers village women (through access to resources and information and the strength of social capital) to make decisions and act to improve their well being

DREAM: Deployment of Recombination and Ensembles in Argument Mining

Current approaches to Argument Mining (AM) tend to take a holistic or black-box view of the overall pipeline. This paper, in contrast, aims to provide a solution to achieve increased performance based on current components instead of independent all-new solutions. To that end, it presents the Deployment of Recombination and Ensemble methods for Argument Miners (DREAM) framework that allows for the (automated) combination of AM components. Using ensemble methods, DREAM combines sets of AM systems to improve accuracy for the four tasks in the AM pipeline. Furthermore, it leverages recombination by using different argument miners elements throughout the pipeline. Experiments with five systems previously included in a benchmark show that the systems combined with DREAM can outperform the previous best single systems in terms of accuracy measured by an AM benchmark

BAM: Benchmarking Argument Mining on Scientific Documents

In this paper, we present BAM, a unified Benchmark for Argument Mining (AM). We propose a method to homogenize both the evaluation process and the data to provide a common view in order to ultimately produce comparable results. Built as a four stage and end-to-end pipeline, the benchmark allows for the direct inclusion of additional argument miners to be evaluated. First, our system pre-processes a ground truth set used both for training and testing. Then, the benchmark calculates a total of four measures to assess different aspects of the mining process. To showcase an initial implementation of our approach, we apply our procedure and evaluate a set of systems on a corpus of scientific publications. With the obtained comparable results we can homogeneously assess the current state of AM in this domain