1,721,132 research outputs found
La neurofibromatosi di Tipo 1 in età pediatrica
No full textLa neurofibromatosi tipo 1 (NF1) è una condizione genetica rara, a trasmissione autosomica dominante, con rischio per i pazienti di sviluppare tumori, per lo più di istologia benigna. Si caratterizza per un coinvolgimento potenzialmente multisistemico, con esordio età dipendente. La maggior parte delle sue manifestazioni cliniche compare in età pediatrica, di qui l’esigenza di un volume dedicato alla NF1 in età evolutiva. Negli ultimi anni, un numero crescente di lavori scientifici ha investigato i complessi meccanismi molecolari che sono alla base delle varie complicanze della NF1. Abbiamo quindi inteso fornire una panoramica il più possibile completa sulla biologia molecolare della NF1, sulle correlazioni genotipo-fenotipo attualmente conosciute, sulle manifestazioni cliniche, sulla diagnosi ed il management clinico, approfondendo anche le opzioni terapeutiche per il paziente pediatrico con NF1. Questo volume, frutto del contributo dei maggiori esperti italiani del settore, si rivolge a genetisti, consulenti genetici, pediatri, neurologi, neuropsichiatri infantili, radiologi, oncologi, dermatologi, oculisti, ortopedici, e ogni altro specialista coinvolto nella gestione dei bambini e adolescenti con NF1. Sono stati inoltre inclusi capitoli sulla transizione all’età adulta e sul ruolo delle associazioni dei pazienti e della rete ERN GENTURIS sul territorio nazionale
Italian investment and merchant banking up to 1914: Hybridising international models and practices
No full textThis paper focuses on the specific legacy of the 19th century private banking on Italian major mixed banks’ practices. We consider their international connections (Paris, Berlin, etc.) and their operating patterns as compared to European ones. Besides, we provide a comparative quantitative analysis of their portfolios in order to evaluate how much they differed from the other major European universal banks, and to which extent investment banking activities were relevant in their portfolios
Are banks procyclical? Evidence from the Italian case (1890-1973)
No full textRecently a number of studies on banking systems’ procyclicality have been drawn. Such an issue, often developed as a consequence of Basel 2 agreements, is related with credit crunch phenomena and financial stability. Typically, a temporary shock may produce a long term effect following or amplifying fluctuations through finance. For this reason procyclicality may significantly affect capital accumulation and long-term growth. Therefore, verifying and measuring whether a banking system is, or is not, procyclical is relevant in order to understand which effects regulatory schemes and financial architectures can produce on capital formation processes. While studies generally have a short period perspective, this paper analyses business fluctuations and banking cycles in the long run. The Italian financial history could provide useful insights because its evolutionary path experimented two different banking patterns. Universal banking prevailed until the Great Depression, whilst specialised financial institutions emerged afterwards. Economic historians have considered Italian universal banks, up to the early 1930s, a convincing example of procyclical intermediaries. Such hypothesis relies on qualitative research based on case studies, but it has not been verified in quantitative terms, yet. Thus, this paper aims to verify procyclicality of the Italian banking system in the long run applying VAR analysis on a wide set of economic and financial indicators. What emerges is that a certain cycle-smoothing effect is observed during the whole period, in spite of the major institutional shock occurred in the early 1930s (i.e. the new bank law), whilst relevant changes in banks’ asset structures suggest that central bank and government intervention had important impact on banks behaviour and policies
Surgical release of de Quervain's stenosing tenosynovitis postpartum: can it wait?
No full textWe compared the efficacy of conservative management of de Quervain's disease in 30 women postpartum (group 1) and 30 nonpregnant women (group 2). All patients underwent conservative management consisting of 2 weeks of splinting of the affected wrist, followed by physiotherapy and antiinflammatory drugs (NSAIDs). Clinical evaluation was performed using a functional score and the visual analogue scale (VAS) of Scott-Huskinson at entry to the study, 1 month later, and at a follow-up of 6 months. Conservative management gave good results in patients in group 1. At the 6-month follow-up a significant difference between the two groups on pain and function was evident. Only one patient in group 1 versus 25 patients in group 2 underwent surgery because of failure of conservative management
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
The complex landscape of DMD mutations: moving towards personalized medicine
Full text linkDuchenne muscular dystrophy (DMD) is a severe genetic disorder characterized by progressive muscle degeneration, with respiratory and cardiac complications, caused by mutations in the DMD gene, encoding the protein dystrophin. Various DMD mutations result in different phenotypes and disease severity. Understanding genotype/phenotype correlations is essential to optimize clinical care, as mutation-specific therapies and innovative therapeutic approaches are becoming available. Disease modifier genes, trans-active variants influencing disease severity and phenotypic expressivity, may modulate the response to therapy, and become new therapeutic targets. Uncovering more disease modifier genes via extensive genomic mapping studies offers the potential to fine-tune prognostic assessments for individuals with DMD. This review provides insights into genotype/phenotype correlations and the influence of modifier genes in DMD
Variations on the Author
Full text link“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
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