The KCNE genes in hypertrophic cardiomyopathy: a candidate gene study

The original publication is available at http://www.jnrbm.com/content/10/1/12Includes bibliographyAbstract Background The gene family KCNE1-5, which encode modulating β-subunits of several repolarising K+-ion channels, has been associated with genetic cardiac diseases such as long QT syndrome, atrial fibrillation and Brugada syndrome. The minK peptide, encoded by KCNE1, is attached to the Z-disc of the sarcomere as well as the T-tubules of the sarcolemma. It has been suggested that minK forms part of an "electro-mechanical feed-back" which links cardiomyocyte stretching to changes in ion channel function. We examined whether mutations in KCNE genes were associated with hypertrophic cardiomyopathy (HCM), a genetic disease associated with an improper hypertrophic response. Results The coding regions of KCNE1, KCNE2, KCNE3, KCNE4, and KCNE5 were examined, by direct DNA sequencing, in a cohort of 93 unrelated HCM probands and 188 blood donor controls. Fifteen genetic variants, four previously unknown, were identified in the HCM probands. Eight variants were non-synonymous and one was located in the 3'UTR-region of KCNE4. No disease-causing mutations were found and no significant difference in the frequency of genetic variants was found between HCM probands and controls. Two variants of likely functional significance were found in controls only. Conclusions Mutations in KCNE genes are not a common cause of HCM and polymorphisms in these genes do not seem to be associated with a propensity to develop arrhythmiaPeer Reviewe

OGLE-2013-SN-079: A LONELY SUPERNOVA CONSISTENT WITH A HELIUM SHELL DETONATION

We present observational data for a peculiar supernova discovered by the OGLE-IV survey and followed by the Public ESO Spectroscopic Survey for Transient Objects. The inferred redshift of z = 0.07 implies an absolute magnitude in the rest-frame I-band of MI ~ –17.6 mag. This places it in the luminosity range between normal Type Ia SNe and novae. Optical and near infrared spectroscopy reveal mostly Ti and Ca lines, and an unusually red color arising from strong depression of flux at rest wavelengths <5000 Å. To date, this is the only reported SN showing Ti-dominated spectra. The data are broadly consistent with existing models for the pure detonation of a helium shell around a low-mass CO white dwarf and "double-detonation" models that include a secondary detonation of a CO core following a primary detonation in an overlying helium shell

Application of Permutation Genetic Algorithm for Sequential Model Building–Model Validation Design of Experiments

YesThe work presented in this paper is motivated by a complex multivariate engineering problem associated with engine mapping experiments, which require efficient Design of Experiment (DoE) strategies to minimise expensive testing. The paper describes the development and evaluation of a Permutation Genetic Algorithm (PermGA) to support an exploration-based sequential DoE strategy for complex real-life engineering problems. A known PermGA was implemented to generate uniform OLH DoEs, and substantially extended to support generation of Model Building–Model Validation (MB-MV) sequences, by generating optimal infill sets of test points as OLH DoEs, that preserve good space filling and projection properties for the merged MB + MV test plan. The algorithm was further extended to address issues with non-orthogonal design spaces, which is a common problem in engineering applications. The effectiveness of the PermGA algorithm for the MB-MV OLH DoE sequence was evaluated through a theoretical benchmark problem based on the Six-Hump-Camel-Back (SHCB) function, as well as the Gasoline Direct Injection (GDI) engine steady state engine mapping problem that motivated this research. The case studies show that the algorithm is effective at delivering quasi-orthogonal space-filling DoEs with good properties even after several MB-MV iterations, while the improvement in model adequacy and accuracy can be monitored by the engineering analyst. The practical importance of this work, demonstrated through the engine case study, also is that significant reduction in the effort and cost of testing can be achieved.The research work presented in this paper was funded by the UK Technology Strategy Board (TSB) through the Carbon Reduction through Engine Optimization (CREO) project

A review of web-based support systems for students in higher education

Abstract Background Recent evidence suggests that there is an increasing need for accessible and anonymous services to support higher education (HE) students suffering from psychological and/or academic difficulties. Such difficulties can lead to several negative outcomes, including poor academic performance, sub-optimal mental health, reduced study satisfaction, and dropout from study. Currently, universities in the UK lack financial resources and the on-campus mental health services traditionally offered to students are increasingly economically unsustainable. Compounded by the perceived stigma of using such services, mental health providers have been driven to address the escalating needs of students through online services. Methods In this paper, we review online support systems identified through a literature search and a manual search of references in the identified papers. Further systems were identified through web searches, and systems still in development were identified by consultation with researchers in the field. We accessed systems online to extract relevant information, regarding the main difficulties addressed by the systems, the psychological techniques used and any relevant research evidence to support their effectiveness. Conclusion A large number of web-based support systems have been developed to support mental health and wellbeing, although few specifically target HE students. Further research is necessary to establish the effectiveness of such interventions in providing a cost-effective alternative to face-to-face therapy, particularly in certain settings such as HE institutions

Southern African Large Telescope Spectroscopy of BL Lacs for the CTA project

In the last two decades, very-high-energy gamma-ray astronomy has reached maturity: over 200 sources have been detected, both Galactic and extragalactic, by ground-based experiments. At present, Active Galactic Nuclei (AGN) make up about 40% of the more than 200 sources detected at very high energies with ground-based telescopes, the majority of which are blazars, i.e. their jets are closely aligned with the line of sight to Earth and three quarters of which are classified as high-frequency peaked BL Lac objects. One challenge to studies of the cosmological evolution of BL Lacs is the difficulty of obtaining redshifts from their nearly featureless, continuum-dominated spectra. It is expected that a significant fraction of the AGN to be detected with the future Cherenkov Telescope Array (CTA) observatory will have no spectroscopic redshifts, compromising the reliability of BL Lac population studies, particularly of their cosmic evolution. We started an effort in 2019 to measure the redshifts of a large fraction of the AGN that are likely to be detected with CTA, using the Southern African Large Telescope (SALT). In this contribution, we present two results from an on-going SALT program focused on the determination of BL Lac object redshifts that will be relevant for the CTA observatory

Direito e linguagem: os entraves linguísticos e sua repercussão no texto jurídico processual

A pesquisa aborda a relação entre Direito e Linguagem, visto que a linguagem se materializa por meio da palavra que é a ferramenta mor do profissional da área jurídica. Observa como os entraves linguístico-gramaticais interferem na compreensão textual e dificultam o andamento processual, busca-se também diagnosticar em que medida tais entraves interferem na construção da comunicação jurídica, produzida em textos processuais, além de se observar qual a responsabilidade do profissional de direito nesta área. Assim, foram verificados os problemas mais correntes, por meio da análise de peças processuais, e foram verificados problemas tanto da perspectiva gramatical quanto da perspectiva estrutural de construção de sentidos do texto jurídico

Direito e linguagem: os entraves linguísticos e sua repercussão no texto jurídico processual

A pesquisa aborda a relação entre Direito e Linguagem, visto que a linguagem se materializa por meio da palavra que é a ferramenta mor do profissional da área jurídica. Observa como os entraves linguístico-gramaticais interferem na compreensão textual e dificultam o andamento processual, busca-se também diagnosticar em que medida tais entraves interferem na construção da comunicação jurídica, produzida em textos processuais, além de se observar qual a responsabilidade do profissional de direito nesta área. Assim, foram verificados os problemas mais correntes, por meio da análise de peças processuais, e foram verificados problemas tanto da perspectiva gramatical quanto da perspectiva estrutural de construção de sentidos do texto jurídico

Práticas de letramentos vernaculares com literatura: interações desenvolvidas por acadêmicos de Letras em ambientes virtuais

Práticas de letramentos vernaculares são efetivadas, na vida pessoal, por iniciativa e interesses próprios. Nessas práticas, a internet tem transformado modos de acesso e de produção. Partindo dessas considerações, busca-se compreender práticas de letramentos vernaculares com literatura desenvolvidas por acadêmicos de um curso de Letras em ambientes virtuais. O presente trabalho possui como marco teórico principal os Novos Estudos dos Letramentos. Trata-se de pesquisa dotipo etnográfica, realizada durante o segundo semestre de 2016, tendo como sujeitos três acadêmicos. Os dados foram gerados por observação participante, questionário e entrevista. As análises permitem constatar que acadêmicos se dedicam às práticas vernaculares, ainda que estas não sejam reconhecidas por instituições educacionais. Acadêmicos de Letras aglutinam práticas vernaculares às práticas institucionalizadas, sinalizando, assim, que a linha de divisa não é rigidamente demarcada.Nesse sentido, instituições educacionais podem refletir sobre modos de tornar as práticas de letramentos, para que façam mais sentido aos estudantes

REFLEXÕES SOBRE LINGUAGEM E TRADUÇÃO EM CONTEXTOS DE SCANLATION E FANFIC

O objetivo deste artigo é apresentar reflexões sobre linguagem e tradução em contextos de scanlation e fanfic. Para tanto foi realizada uma pesquisa qualitativa de cunho etnográfico, cujo instrumento de geração de dados foi a entrevista semiestruturada realizada com um acadêmico do curso superior de Letras a respeito de práticas de scanlation e fanfic. Os dados foram analisados à luz dos Estudos dos Letramentos articulados às tecnologias de informação e comunicação. Os dados sugerem que, os scanlations e as fanfics são novas formas de agir e interagir em meio a práticas vernaculares de leitura e escrita em suporte digital, demonstrando que o sujeito consome, produz e (re)produz. Essas práticas de letramentos vernaculares são vinculadas à literatura, na concepção do participante de pesquisa. Apesar de representarem práticas vernaculares, são concretizadas com cuidados no que toca a tradução dos textos, dentre outras normas.PALAVRAS-CHAVE: Linguagem. Tradução. Scanlation. Fanfic