Search results for "Symbol"

Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders

2020

Contains fulltext : 218274.pdf (Publisher’s version ) (Closed access) Genetic syndromes frequently present with overlapping clinical features and inconclusive or ambiguous genetic findings which can confound accurate diagnosis and clinical management. An expanding number of genetic syndromes have been shown to have unique genomic DNA methylation patterns (called "episignatures"). Peripheral blood episignatures can be used for diagnostic testing as well as for the interpretation of ambiguous genetic test results. We present here an approach to episignature mapping in 42 genetic syndromes, which has allowed the identification of 34 robust disease-specific episignatures. We examine emerging pa…

Do Brincar do Bebê ao Brincar da Criança: Um Estudo sobre o Processo de Subjetivação da Criança Autista

2018

RESUMO O brincar primitivo do bebê poderia nos revelar traços precoces de uma provável organização autística em curso na criança pequena? Em que medida o investimento do bebê face aos objetos do mundo externo e do ambiente poderia ser associado a suas primeiras experiências com o objeto materno? Tais questões são levantadas neste artigo, cujo principal objetivo é abordar o processo de subjetivação da criança autista a partir da correlação entre o brincar primitivo do bebê e o brincar simbólico da criança. Por meio de um estudo longitudinal de bebês com risco de autismo, constatou-se que, desde uma idade precoce, é possível detectar particularidades na maneira como eles investem e interagem …

2019

Purpose This study analyzed whether low birth weight is linked to prevalence and incidence of age-related maculopathy (AMD) in adulthood. Methods The Gutenberg Health Study (GHS) is a population-based, observational cohort study in Germany. GHS participants at an age from 35 to 74 years were included. An ophthalmologic examination with fundus photography was carried out. Fundus photographs were graded according to the Rotterdam Grading Scheme for AMD at baseline and at the 5-year follow-up examination. Participants were divided into three different birth weight groups (low: 4000 g). Poisson regression analysis with adjustment for several confounders was used to assess associations between b…

Apert Syndrome With FGFR2 758 C > G Mutation: A Chinese Case Report

2018

Background: Apert syndrome is considered as one of the most common craniosynostosis syndromes with a prevalence of 1 in 65,000 individuals, and has a close relationship with point mutations in FGFR2 gene.Case report: Here, we described a Apert syndrome case, who was referred to genetic consultation in our hospital with the symptom of craniosynostosis and syndactyly of the hands and feet. Craniosynostosis, midfacial retrusion, steep wide forehead, larger head circumference, marked depression of the nasal bridge, short and wide nose and proptosis could be found obviously, apart from these, ears were mildly low compared with normal children and there was no cleft lip and palate. Mutation was i…

Raman spectroscopy as a tool for ecology and evolution.

2017

7 pages; International audience; Scientists are always on the lookout for new modalities of information which could reveal new biological features that are useful for deciphering the complexity of biological systems. Here, we introduce Raman spectroscopy as a prime candidate for ecology and evolution. To encourage the integration of this microscopy technique in the field of ecology and evolution, it is crucial to discuss first how Raman spectroscopy fits within the conceptual, technical and pragmatic considerations of ecology and evolution. In this paper, we show that the spectral information holds reliable indicators of intra- and interspecies variations, which can be related to the enviro…

alpha 2-COP is involved in early secretory traffic in Arabidopsis and is required for plant growth

2017

[EN] COP (coat protein) I-coated vesicles mediate intra-Golgi transport and retrograde transport from the Golgi to the endoplasmic reticulum. These vesicles form through the action of the small GTPase ADP-ribosylation factor 1 (ARF1) and the COPI heptameric protein complex (coatomer), which consists of seven subunits (alpha-, beta-, beta' -, gamma-, delta-, epsilon- and xi-COP). In contrast to mammals and yeast, several isoforms for coatomer subunits, with the exception of gamma and delta, have been identified in Arabidopsis. To understand the role of COPI proteins in plant biology, we have identified and characterized a loss-of-function mutant of alpha 2-COP, an Arabidopsis alpha-COP isofo…

Confronting blackface

2019

Abstract Recently, the Netherlands witnessed an agitated discussion over Black Pete, a blackface character associated with the Saint Nicholas festival. This paper analyzes a televised panel interview discussing a possible court ban of public Nicholas festivities, and demonstrates that participants not only disagree over the racist nature of the blackface character but also over the terms of the debate itself. Drawing on recent sociolinguistic work on stancetaking, it traces how panelists ‘laminate’ the interview’s participation framework by embedding their assessments of Black Pete in contrasting dialogical fields. Their stancetaking evokes opposing trajectories of earlier interactions and …

Towards understanding nonmanuality : A semiotic treatment of signers’ head movements

2019

This article discusses a certain type of nonmanual action, signers’ head movements, from a semiotic perspective. It presents a typology of head movements and their iconic, indexical and symbolic features based on Peircean and post-Peircean semiotics. The paper argues for the view that (i) indexical strategies are very prominent in head movements, (ii) iconic features are most evident in enacting, while non-enacting description is less common, (iii) symbolic types for tokens are infrequent, although some movements—such as nodding and shaking the head—may become more conventional or schematized, and (iv) different types of head movements involve different proportions of iconicity, indexicalit…

Asymmetry matters: Dynamic half-way points in bidirectional labeling for solving shortest path problems with resource constraints faster

2017

Abstract With their paper “Symmetry helps: Bounded bi-directional dynamic programming for the elementary shortest path problem with resource constraints” [Discrete Optimization 3, 2006, pp. 255–273] Righini and Salani introduced bounded bidirectional dynamic programming (DP) as an acceleration technique for solving variants of the shortest path problem with resource constraints (SPPRC). SPPRCs must be solved iteratively when vehicle routing and scheduling problems are tackled via Lagrangian relaxation or column-generation techniques. Righini and Salani and several subsequent works have shown that bounded bidirectional DP algorithms are often superior to their monodirectional counterparts, s…

"In der Mathematik ist ein Streit mit Sicherheit zu entscheiden". Perspektiven einer Soziologie der Mathematik

2000

Die Mathematik wird in diesem Aufsatz als ein empirisches Beispiel präsentiert, an dem sich die Voraussetzungen eines "rationalen Dissenses" exemplarisch untersuchen lassen. Denn im Gegensatz zu anderen epistemischen Kulturen gibt es in der Mathematik weder interpretative Flexibilität noch unentscheidbare Kontroversen. Auf der Basis einer medientheoretischen Perspektive und einer Feldstudie in einem internationalen Mathematikinstitut geht der Aufsatz der Frage nach, ob die Soziologie im Falle der Mathematik nicht auf eine prinzipielle Grenze stößt. In einem ersten Teil wird die These einer epistemischen Besonderheit der Mathematik präzisiert und in Auseinandersetzung mit zwei programmatisch…