1,721,139 research outputs found
Genetic syndromes involving hearing
No full textOBJECTIVE: The fundamental processes involved in the mechanism of hearing seem to be controlled by hundreds of genes and hereditary hearing impairment may be caused by a large variety of genetic mutations in different genes. Approximately 150 loci for monogenic syndromic and non-syndromic hearing impairment (HI) disorders have been mapped to the human genome. The identification of these genes and functional analysis of the proteins they encode, are paving the way towards a better understanding of the physiology and pathophysiology of the auditory system. To date, approximately 50 causative genes have been identified.
METHODS: The clinical and neuroradioldical findings of syndromal hearing impairment are analysed.
RESULTS: This paper presents an updated report on genetic syndromes in which a hearing impairment is involved, with a particular attention to the ones associated with external ear and craniofacial malformations.
CONCLUSIONS: Concepts in human genetics are rapidly evolving together with technologies. The concept itself of gene is changing. A genetic diagnosis of syndromal hearing impairment has many practical consequences: it can implies specific prognosis, specific management, specific recurrence risk in relatives and, if the diagnosis is confirmed at the molecular level, possibility of a specific early prenatal diagnosis for severe syndromes. It is important to highlight the necessity that the pediatric otolaryngologist must have a close collaboration with a clinical geneticist and a neuroradiologist
Transient analysis of and control system for advanced cycles based on micro gas turbine technology
No full textMicroturbines have a less complex mechanical design than large-size gas turbines that should make it possible to fit them with a more straightforward control system. However, these systems have very low shaft mechanical inertia and a fast response to external disturbances, such as load trip, that make this very difficult to do. Furthermore, the presence of the recuperator requires smooth variations to the Turbine Outlet Temperature (TOT), when possible, to ensure reduced thermal stresses to the metallic matrix. This paper, after a brief overview of microturbine control systems and typical transients, presents the expected transient behavior of two advanced cycles: the Externally Fired micro Gas Turbine (EFmGT) cycle, where the aim is to develop a proper control system set-up to manage safe part-load operations at constant rotational speed, and a solar Closed Brayton Cycle (CBC), whose control system has to ensure the maximum efficiency at constant rotational speed and constant Turbine Inlet Temperature (TIT). Copyright © 2005 by ASME
Metodologia per la riqualificazione della strada in ambito urbano ai fini della sicurezza dell'utente debole: un caso in Brescia
No full text
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
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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