Genome-wide association analysis identifies 13 new risk loci for schizophrenia

Schizophrenia is an idiopathic mental disorder with a heritable component and a substantial public health impact. We conducted a multi-stage genome-wide association study (GWAS) for schizophrenia beginning with a Swedish national sample (5,001 cases and 6,243 controls) followed by meta-analysis with previous schizophrenia GWAS (8,832 cases and 12,067 controls) and finally by replication of SNPs in 168 genomic regions in independent samples (7,413 cases, 19,762 controls and 581 parent-offspring trios). We identified 22 loci associated at genome-wide significance; 13 of these are new, and 1 was previously implicated in bipolar disorder. Examination of candidate genes at these loci suggests the involvement of neuronal calcium signaling. We estimate that 8,300 independent, mostly common SNPs (95% credible interval of 6,300-10,200 SNPs) contribute to risk for schizophrenia and that these collectively account for at least 32% of the variance in liability. Common genetic variation has an important role in the etiology of schizophrenia, and larger studies will allow more detailed understanding of this disorder.

Brain responses to audiovisual speech mismatch in infants are associated with individual differences in looking behaviour

Research on audiovisual speech integration has reported high levels of individual variability, especially among young infants. In the present study we tested the hypothesis that this variability results from individual differences in the maturation of audiovisual speech processing during infancy. A developmental shift in selective attention to audiovisual speech has been demonstrated between 6 and 9 months with an increase in the time spent looking to articulating mouths as compared to eyes (Lewkowicz & Hansen-Tift. (2012) Proc. Natl Acad. Sci. USA, 109, 1431–1436; Tomalski et al. (2012) Eur. J. Dev. Psychol., 1–14). In the present study we tested whether these changes in behavioural maturational level are associated with differences in brain responses to audiovisual speech across this age range. We measured high-density event-related potentials (ERPs) in response to videos of audiovisually matching and mismatched syllables /ba/ and /ga/, and subsequently examined visual scanning of the same stimuli with eye-tracking. There were no clear age-specific changes in ERPs, but the amplitude of audiovisual mismatch response (AVMMR) to the combination of visual /ba/ and auditory /ga/ was strongly negatively associated with looking time to the mouth in the same condition. These results have significant implications for our understanding of individual differences in neural signatures of audiovisual speech processing in infants, suggesting that they are not strictly related to chronological age but instead associated with the maturation of looking behaviour, and develop at individual rates in the second half of the first year of life.

Curso colectivo: Escenarios del deseo. Aproximaciones desde la filosofía, el psicoanálisis y el cine

Coordinan: Dr. Alberto Constante, Dr. Ignacio Díaz De La Serna, Dra. Leticia Flores Farfán,

Curso colectivo: Protagonistas de la narrativa mexicana contemporánea II

Coordina: Gonzalo Celorio

Effects of vitamin K deficiency and its mechanisms in vertebrate's early development: zebrafish as a model

Disertação de mestrado, Ciências Biomédicas, Departamento de Ciências Biomédicas e Medicina, Universidade do Algarve, 2015

Prediction of breast cancer risk based on profiling with common genetic variants

BACKGROUND: Data for multiple common susceptibility alleles for breast cancer may be combined to identify women at different levels of breast cancer risk. Such stratification could guide preventive and screening strategies. However, empirical evidence for genetic risk stratification is lacking. METHODS: We investigated the value of using 77 breast cancer-associated single nucleotide polymorphisms (SNPs) for risk stratification, in a study of 33 673 breast cancer cases and 33 381 control women of European origin. We tested all possible pair-wise multiplicative interactions and constructed a 77-SNP polygenic risk score (PRS) for breast cancer overall and by estrogen receptor (ER) status. Absolute risks of breast cancer by PRS were derived from relative risk estimates and UK incidence and mortality rates. RESULTS: There was no strong evidence for departure from a multiplicative model for any SNP pair. Women in the highest 1% of the PRS had a three-fold increased risk of developing breast cancer compared with women in the middle quintile (odds ratio [OR] = 3.36, 95% confidence interval [CI] = 2.95 to 3.83). The ORs for ER-positive and ER-negative disease were 3.73 (95% CI = 3.24 to 4.30) and 2.80 (95% CI = 2.26 to 3.46), respectively. Lifetime risk of breast cancer for women in the lowest and highest quintiles of the PRS were 5.2% and 16.6% for a woman without family history, and 8.6% and 24.4% for a woman with a first-degree family history of breast cancer. CONCLUSIONS: The PRS stratifies breast cancer risk in women both with and without a family history of breast cancer. The observed level of risk discrimination could inform targeted screening and prevention strategies. Further discrimination may be achievable through combining the PRS with lifestyle/environmental factors, although these were not considered in this report.

PET/CT com 18-fluor-fluorodeoxiglucose no seguimento do melanoma maligno cutâneo

Introdução – O melanoma maligno cutâneo (MMC) é considerado uma das mais letais neoplasias e no seu seguimento recorre-se, para além dos exames clínicos e da análise de marcadores tumorais, a diversos métodos imagiológicos, como é o exame Tomografia por Emissão de Positrões/Tomografia Computorizada (PET/CT, do acrónimo inglês Positron Emission Tomography/Computed Tomography) com 18fluor-fluorodeoxiglucose (18F-FDG). O presente estudo tem como objetivo avaliar a utilidade da PET/CT relativamente à análise da extensão e à suspeita de recidiva do MMC, comparando os achados imagiológicos com os descritos em estudos CT. Metodologia – Estudo retrospetivo de 62 estudos PET/CT realizados em 50 pacientes diagnosticados com MMC. Excluiu-se um estudo cujo resultado era duvidoso (nódulo pulmonar). As informações relativas aos resultados dos estudos anatomopatológicos e dos exames imagiológicos foram obtidas através da história clínica e dos relatórios médicos dos estudos CT e PET/CT. Foi criada uma base de dados com os dados recolhidos através do software Excel e foi efetuada uma análise estatística descritiva. Resultados – Dos estudos PET/CT analisados, 31 foram considerados verdadeiros positivos (VP), 28 verdadeiros negativos (VN), um falso positivo (FP) e um falso negativo (FN). A sensibilidade, especificidade, o valor preditivo positivo (VPP), o valor preditivo negativo (VPN) e a exatidão da PET/CT para o estadiamento e avaliação de suspeita de recidiva no MMC são, respetivamente, 96,9%, 96,6%, 96,9%, 96,6% e 96,7%. Dos resultados da CT considerados na análise estatística, 14 corresponderam a VP, 12 a VN, três a FP e cinco a FN. A sensibilidade, especificidade, o VPP e o VPN e a exatidão da CT para o estadiamento e avaliação de suspeita de recidiva no MMC são, respetivamente, 73,7%, 80,0%, 82,4%, 70,6% e 76,5%. Comparativamente aos resultados CT, a PET/CT permitiu uma mudança na atitude terapêutica em 23% dos estudos. Conclusão – A PET/CT é um exame útil na avaliação do MMC, caracterizando-se por uma maior acuidade diagnóstica no estadiamento e na avaliação de suspeita de recidiva do MMC comparativamente à CT isoladamente.

A mobile robot platform for open learning based on serious games and remote laboratories

Within the pedagogical community, Serious Games have arisen as a viable alternative to traditional course-based learning materials. Until now, they have been based strictly on software solutions. Meanwhile, research into Remote Laboratories has shown that they are a viable, low-cost solution for experimentation in an engineering context, providing uninterrupted access, low-maintenance requirements, and a heightened sense of reality when compared to simulations. This paper will propose a solution where both approaches are combined to deliver a Remote Laboratory-based Serious Game for use in engineering and school education. The platform for this system is the WebLab-Deusto Framework, already well-tested within the remote laboratory context, and based on open standards. The laboratory allows users to control a mobile robot in a labyrinth environment and take part in an interactive game where they must locate and correctly answer several questions, the subject of which can be adapted to educators' needs. It also integrates the Google Blockly graphical programming language, allowing students to learn basic programming and logic principles without needing to understand complex syntax.

VISIR deployment in undergraduate engineering practices

Practical sessions are the backbone of qualification in engineering education. It leads to a better understanding and allows mastering scientific concepts and theories. The lack of the availability of practical sessions at many universities and institutions owing to the cost and the unavailability of instructors the most of the time caused a significant decline in experimentation in engineering education over the last decades. Recently, with the progress of computer-based learning, remote laboratories have been proven to be the best alternative to the traditional ones, regarding to its low cost and ubiquity. Some universities have already started to deploy remote labs in their practical sessions. This contribution compiles diverse experiences based on the deployment of the remote laboratory, Virtual Instrument Systems in Reality (VISIR), on the practices of undergraduate engineering grades at various universities within the VISIR community. It aims to show the impact of its usage on engineering education concerning the assessments of students and teachers as well.

UAV - based imagery processing using structure from motion and remote sensing technology

With the recent advances in technology and miniaturization of devices such as GPS or IMU, Unmanned Aerial Vehicles became a feasible platform for a Remote Sensing applications. The use of UAVs compared to the conventional aerial platforms provides a set of advantages such as higher spatial resolution of the derived products. UAV - based imagery obtained by a user grade cameras introduces a set of problems which have to be solved, e. g. rotational or angular differences or unknown or insufficiently precise IO and EO camera parameters. In this work, UAV - based imagery of RGB and CIR type was processed using two different workflows based on PhotoScan and VisualSfM software solutions resulting in the DSM and orthophoto products. Feature detection and matching parameters influence on the result quality as well as a processing time was examined and the optimal parameter setup was presented. Products of the both workflows were compared in terms of a quality and a spatial accuracy. Both workflows were compared by presenting the processing times and quality of the results. Finally, the obtained products were used in order to demonstrate vegetation classification. Contribution of the IHS transformations was examined with respect to the classification accuracy.

Patrones morfológicos del otolito sagitta de algunos peces óseos del mar peruano

Catálogo que contiene fotografías y descripciones del otolito sagitta de cincuenta especies de peces teleósteos. Los otolitos descritos pertenecen a especies registradas como presas frecuentes de especies marinas ictiófagas {calamares, peces, aves y mamíferos) .fi•ente a las costas del Perú. Su objetivo principal es que pueda constituir una herramienta de referencia para los análisis de la dieta de los predadores marinos y también para los estudios arqueológicos, comprendidos dentro del área del Pacífico Sudeste.

Aves antárticas y su relación con el krill. Expedición Perú antar XIV, verano austral 2003

Estudio de las aves, en forma simultanea con el barrido acústico para determinar la abundancia del krill.

Distribución de las aves marina frente a la costa norte y centro del Perú durante el verano 2002

Estudio de las aves marinas frente a la costa de Tumbes a Cerro Azul durante el crucero BIC.

Collection de pièces de théâtre. TOME XXII

Contient : 1 "Merinval ou O castigo da vingança. Tragedia traduzida do francez." ; 2 "A mizantropia ou O arrependimento. Drama sentimental de sinco actos, que se repprezentou no theatro nacional da rua dos Condes, com geral aceitaçaõ, composto no idiôma hespanhol por hum anónimo, traduzido no idiôma portuguez pelo actor Antonio Jozé de Paula, ampliado por Alexandre Jozé Victor da Costa Sequeira, copiado aos 24 de julho de 1817." ; 3 "Entremes famozo do mizeravel." ; 4 "Intervalo : O morgado emsacado... copiado a 7 de setembro de 1826." ; 5 "A morte de Cézar ou Do mundo a maior crueldade. Drama trágico de trez actos. Acrescentada e posta ao gosto moderno por Joaõ Ignacio Henriques e por***, copiado aos 7 de junho de 1808." ; 6 "O morto vivo ou O desvanecido de si mesmo. Farça que se repprezentou no theatro nacional da rua dos Condes, com geral aceitaçaõ, composta pelo actor Antonio Jozé de Paula, ampliada por Alexandre Jozé Victor da Costa Sequeira, copiada aos 26 de novembro de 1817." ; 7 "Comedia intitulada : Muito vence amor e engano ou O ignorante por sabio admetido." ; 8 "A mulher com defeito ou O cazamento por gazèta. Farça que se repprezentou no theatro nacional da rua dos Condes, com geral aceitaçaõ, composta por Ricardo Jozé Fortuna, copiada aos 28 de fevereiro de 1818." ; 9 "A mulher de máu génio ou A criada generoza. Drama de meio-caracter de trez actos, composto no idiôma italiano pelo Doutor Carlos Goldôni, traduzido no idiôma portuguez por hum anónimo, ampliado por Alexandre Jozé Victor da Costa Sequeira, copiado aos 6 de julho de 1817." ; 10 "A mulher zeloza ou Os extremos da amizade. Drama sentimental em 2 actos por A. Xavier F. de A."

超性學要Chao xing xue yao.

Contient : Dieu, livres 1 à 6 ; la Sainte-Trinité, livres 7 à 9 ; la création, livre 10 ; les anges, livres 11 à 15 ; la création des objets matériels, livre 16 ; l'âme de l'homme, livres 17 à 22 ; le corps de l'homme, livres 23 et 24 ; la Providence, livres 25 et 26