Search results for "Cases"
showing 10 items of 124 documents
Human exome and mouse embryonic expression data implicate ZFHX3, TRPS1, and CHD7 in human esophageal atresia
2020
Introduction Esophageal atresia with or without tracheoesophageal fistula (EA/TEF) occurs approximately 1 in 3.500 live births representing the most common malformation of the upper digestive tract. Only half a century ago, EA/TEF was fatal among affected newborns suggesting that the steady birth prevalence might in parts be due to mutational de novo events in genes involved in foregut development. Methods To identify mutational de novo events in EA/TEF patients, we surveyed the exome of 30 case-parent trios. Identified and confirmed de novo variants were prioritized using in silico prediction tools. To investigate the embryonic role of genes harboring prioritized de novo variants we perfor…
Resilient Organizations in the Third Sector. Professionalized Membership Associations, Social Enterprises, Modern Hybrids
2018
How do nonprofit organizations manage to survive? How are they able to adapt to changed environments without losing their distinctiveness? Fifteen case studies of nonprofit organizations operating across Europe tell us a story of how to make ends meet. The cases presented, identified and analyzed in the framework of the European Union-funded research project Third Sector Impact (TSI) (Enjolras et al. 2018)1 , are organizations that are confronted with an increasingly hostile environment in terms of the availability of resources and co-operation with government. Some of them, particularly those in Southern Europe and in the U.K., suffer from austerity politics and financial cutbacks; some ar…
Sequential recruitment of the mRNA decay machinery to the iron-regulated protein Cth2 in Saccharomyces cerevisiae
2020
Post-transcriptional factors importantly contribute to the rapid and coordinated expression of the multiple genes required for the adaptation of living organisms to environmental stresses. In the model eukaryote Saccharomyces cerevisiae, a conserved mRNA-binding protein, known as Cth2, modulates the metabolic response to iron deficiency. Cth2 is a tandem zinc-finger (TZF)-containing protein that co-transcriptionally binds to adenine/uracil-rich elements (ARE) present in the 3′-untranslated region of iron-related mRNAs to promote their turnover. The nuclear binding of Cth2 to mRNAs via its TZFs is indispensable for its export to the cytoplasm. Although Cth2 nucleocytoplasmic transport is ess…
School-age vaccination, school openings and Covid-19 diffusion
2022
This article investigates the relationship between school openings and Covid-19 diffusion when school-age vaccination becomes available. The analysis relies on a unique geo-referenced high frequency database on age of vaccination, Covid-19 cases and hospitalization indicators from the Italian region of Sicily. The study focuses on the change of Covid-19 diffusion after school opening in a homogeneous geographical territory (i.e., with the same control measures and surveillance systems, centrally coordinated by the Regional Government). The identification of causal effects derives from a comparison of the change in cases before and after school opening in the school year 2020/21, when vaccin…
Il fondamento epistemologico della psicoanalisi freudiana nei casi clinici del 1895
2019
Nel rivolgere lo sguardo all’intera produzione di Sigmund Freud, in primo luogo la memoria storica suggerisce di prestare attenzione al contenuto de L’interpretazione dei sogni (del 1899) e di Al di là del principio di piacere (del 1920). Il testo di queste due opere denota l’evoluzione epistemologica della ricerca svolta dal padre della psicoanalisi, sino a giungere alle opere della maturità. I concetti di «isteria», «ipnosi» e «metodo catartico » consentono di riscontrare l’assunzione definitiva del metodo maieutico, esposto negli scritti della maturità e degli ultimi anni. Mi riferisco in particolare, oltre a La negazione (del 1925), soprattutto a Analisi terminabile e interminabile e Co…
8-Oxoguanine DNA glycosylase (Ogg1) causes a transcriptional inactivation of damaged DNA in the absence of functional Cockayne syndrome B (Csb) prote…
2008
We have analysed the effect of oxidative guanine lesions on the expression of a transfected reporter gene in mouse embryonic fibroblasts deficient in Cockayne syndrome B protein (Csb) and/or the 8-oxoguanine DNA glycosylase (Ogg1). We used a highly sensitive flow cytometry-based approach and quantitative real-time PCR to measure the changes in gene expression caused by the presence of oxidised guanine residues generated by photosensitisation in the vector DNA. In wild-type cells, small numbers (one or three) of oxidised guanines did not affect gene expression at short times after transfections, whereas progressive reduction of the transgene expression was observed at later time points. Alth…
A comprehensive one-year correlation analysis between prevalence and number of sars-cov-2 rna copies detected in wastewater from 8 sicilian cities in…
2023
Background and objectives: Several authors have reported positive correlations between wastewater SARS-CoV-2 concentrations and the community’s burden of infection, providing information about the disease’s epidemiological trend. This pre-post study evaluated – within a year of active surveillance, from October 1st,2021, to September 30th, 2022 – the relation between daily SARSCoV-2 prevalence and the number of genome copies/L detected in West Sicily wastewater samples. This study is part of a national framework coordinated by Istituto Superiore di Sanità. Methods: Quantitative data from analysing 486 wastewater samples collected from 9 purification plants in 8 Sicilian cities (Agrigento, B…
Giuseppina Terranova and Other Gruesome Stories: Cases of Female Italian-American murderers in the press from the 1890s to the 1910s
2019
Immigrant women during the period of mass migration received little public attention. However, when some of them became protagonists in sensational murder cases, they burst into the public sphere. Analyzing the representation of Josephine Terranova and other female Italian-American murderers in both the yellow press and the Italian-American press shows how some of these invisible women were able to assert themselves in the public sphere and achieve a degree of agency despite their tragic circumstances. These women, represented as degenerate and genetically inferior in the early coverage of their cases and trials, were, over time, essentially rehabilitated in the press as “proper” American s…
How store design contributes to the evolution of retail brand positioning : a longitudinal case study
2014
One of the innovative ways favoured by retailers to drive change in their value proposition is to review the design of their stores. Academic contributions to the in-store experience have mostly focused on consumer perspective and identifying relevant managerial practices. The core of this research studies how repositioning a retail brand translates into the experiential design of retail spaces. To this end, the research follows the repositioning process from a managerial perspective and updates the mechanisms that underlie it. The longitudinal study of embedded cases reveals the importance of an holistic design that takes into account the desired interactions between the shopper and the st…