Characterization of a rare analphoid supernumerary marker chromosome in mosaic

Abstract publicado em: Chromosome Research. 2015;23(Suppl 1):67-8. doi:10.1007/s10577-015-9476-6Analphoid supernumerary marker chromosomes (SMCs) are a rare subclass of SMCs C-band-negative and devoid of alpha-satellite DNA. These marker chromosomes cannot be identified unambiguously by conventional banding techniques alone being necessary to apply molecular cytogenetic methods in favour of a detailed characterization. In this work we report an analphoid SMC involving the terminal long arm of chromosome 7, in 9 years-old boy with several dysmorphic features and severe development delay. Cytogenetic analysis revealed a mosaic karyotype with the presence of an extra SMC, de novo, in 20 % of lymphocytes and 73 % of fibroblast cells. FISH analysis with alpha-satellite probes for all chromosomes, whole chromosome painting probe for chromosome 7, and D7S427 and TelVysion 7q probes, allowed establishing the origin of the SMC as an analphoidmarker resulting of an invdup rearrangement of 7q36-qter region. Affimetrix CytoScan HD microarray analysis, redefined the SMC to arr[hg19] 7q35(143696249-159119707)×2~3, which correspond to a gain of 15.42 Mb and encloses 67 OMIM genes, 16 of which are associated to disease. This result, combined with detailed clinical description, will provide an important means for better genotype-phenotype correlation and a more suitable genetic counselling to the patient and his parents, despite the additional difficulty resulting from being a mosaic (expression varies in different tissues). Analphoid SMCs derived from chromosome 7 are very rare, with only three cases reported so far. With this case we hope contribute to a better understanding of this type of chromosome rearrangements which are difficult for genetic counselling

Sensing the impact of COVID-19 restrictions from online reviews: The cases of London and Paris unveiled through text mining

This study aims to understand how the COVID-19 pandemic affected the hotel sector and to identify the current traveler demands. The traveler’s re-views were analyzed based on sentiment analysis and a guest satisfaction model was also proposed, demonstrating a data mining approach within tourism and hospitality research. Given its popularity, TripAdvisor was the chosen platform for collection of hotel reviews in London and Paris. Text data were extracted from reviews made in two time periods, before and during the COVID-19 pan-demic. The sentiment and specific aspects highlighted by travelers were com-pared between each period.info:eu-repo/semantics/acceptedVersio

Radio emission from satellite-Jupiter interactions (especially Ganymede)

Analyzing a database of 26 years of observations of Jupiter from the Nan\c{c}ay Decameter Array, we study the occurrence of Io-independent emissions as a function of the orbital phase of the other Galilean satellites and Amalthea. We identify unambiguously the emissions induced by Ganymede and characterize their intervals of occurrence in CML and Ganymede phase and longitude. We also find hints of emissions induced by Europa and, surprisingly, by Amalthea. The signature of Callisto-induced emissions is more tenuous.Comment: 14 pages, 7 figures, in "Planetary Radio Emissions VIII", G. Fischer, G. Mann, M. Panchenko and P. Zarka eds., Austrian Acad. Sci. Press, Vienna, in press, 201

Regeneração da Floresta Estacional Semidecidual Aluvial e Submontana, Fênix - PR, Brasil.

EVINCI. Resumo 026

Doddering but dear … even in the eyes of young children? Age stereotyping and prejudice in childhood and adolescence

This study aims to explore age prejudice, and to examine age stereotyping in children and adolescents by adopting the Stereotype Content Model (SCM) as a theoretical framework. It was hypothesised that children are socialised into adopting an ambivalent representation of old age (socialisation hypothesis) and that this cognitive bias becomes weaker in adolescence due to greater cognitive maturity (developmental hypothesis). By analysing representative data from Portugal (European Social Survey; N?=?2367), it was ascertained that the ambivalent age stereotype (higher evaluations of warmth than competence for older people) is indeed a shared social representation of older people in Portuguese society. A total of 103 Portuguese children (6–10 year olds) and adolescents (11–15 year olds) were then sampled from a local school and responded to age-appropriate measures assessing age prejudice as well as age stereotypes. Contrary to previous studies, the findings do not provide evidence for the existence of age prejudice because both children and adolescents reported positive feelings towards older people. However, the socialisation hypothesis was corroborated by showing that the ambivalent old age stereotype was already present in childhood. Contrary to the stipulated developmental hypothesis, the magnitude of this cognitive bias was very similar in adolescence.info:eu-repo/semantics/acceptedVersio

SLaMA-URM method for the seismic vulnerability assessment of UnReinforced Masonry structures: Formulation and validation for a substructure

An analytical procedure based on the SLaMA (Simplified Lateral Mechanism Analysis) method is proposed for the seismic vulnerability assessment of UnReinforced Masonry (URM) structures. The procedure considers an equivalent frame discretization for the structure (pier, spandrel, and joint elements) and includes: (i) the evaluation of moment‒rotation capacity curves at each pier-spandrel subassembly; (ii) the assessment of the hierarchy of strength in each subassembly; and (iii) the calculation of the structure capacity curve according to the expected failure mechanism. Validation of the proposed SLaMA-URM procedure is achieved in a one-story URM substructure tested under lateral cyclic loading. The analytical predictions are compared with numerical ones from a 2D continuous finite element (FE) model based on a macro-modelling strategy. The flexural capacity of the components is estimated using a monolithic beam analogy, and the results compared with those from traditional sectional analysis. The influence of the substructure geometry on the hierarchy of strength at the subassembly and global levels is investigated. An analytical formulation of the pier-spandrel joint strength is also proposed to be considered in the assessment of the hierarchy of strength. The method is validated for a one-story substructure subjected to lateral in-plane loading. Results, in terms of crack patterns and capacity curves, are in relatively good agreement with the experimental and FE results, even when a bilinear curve approximation is used. The potential of the SLaMA-URM method for the seismic assessment of URM buildings is demonstrated, whose application to a larger URM structure is planned as a subsequent study

Poliomielite associada à vacina: descrição de caso por transmissão domiciliar

Poliomyelitis associated with live strain vaccine is defined as the paralytic form of the acute anterior poliomyelitis related to the vaccine strain. Since these strains behave similarly to the wild-type virus, we can differentiate, epidemiologically, two types of vaccine-associated poliomyelitis: cases in which the patient was vaccinated and cases in which the patient had had contact with vaccinated individuals. We herein present the case of an unvaccinated child, with a clinical picture of an acute anterior poliomyelitis associated with the live strain vaccine, whose brother received the Sabin vaccine 20 days before the onset of the symptoms. Vaccine strain of the type 3 poliovirus was isolated in fecal culture and a presented mutation in nucleotide 472 (C;®;U) in the 5' non-coding region, which is strongly related to the higher strain virulence.A poliomielite associada à vacina oral é definida como a forma paralítica da poliomielite anterior aguda decorrente da cepa vacinal. Uma vez que o comportamento da cepa vacinal é semelhante ao do vírus selvagem, epidemiologicamente podemos distinguir dois tipos de poliomielite associada à vacina, os casos em que o paciente foi vacinado e os casos em que o paciente teve contato com pessoas que receberam a vacina. Apresentamos o caso de um lactente não vacinado, que apresentou quadro de poliomielite anterior aguda associada à vacina oral, cujo irmão havia recebido a vacina Sabin 20 dias antes do início do quadro clínico. Na cultura de fezes do paciente foi isolado o poliovírus tipo 3, cepa vacinal, que apresentava mutação do nucleotídeo 472 (C;®;U) na região 5' não codificadora, a qual está significativamente relacionada com a maior virulência da cepa