Search results for "LEQ"
showing 10 items of 14 documents
Villequez François-Ferdinand
2007
Entrée de dictionnaire; Dictionnaire historique des juristes français XIIe-XXe siècles
Jean Jacques Lequeu, Ortografia della tomba di Porsenna: analisi grafica
2019
La quantità, piuttosto esigua, di scritti esegetici sulla figura di Lequeu è caratterizzata da una pluralità di temi che ben si sposa con i repentini cambi di contenuto all’interno dei suoi disegni. Si ritiene che un vuoto consistente sia caratterizzato dall’assenza di indagini effettuate mediante gli strumenti del disegno e della rappresentazione, mezzi che costituiscono la principale metodologa utilizzata nello studio proposto. Nel caso specifico della tomba di Lars Porsenna si è attuata l’analisi della forma e delle geometrie generatrici che unita ad una ipotesi di ricostruzione digitale hanno evidenziato l’indipendenza dei rapporti tra la produzione di immagini e il controllo della form…
Identification of novel mutations in the ABCA12 gene, c.1857delA and c.5653–5655delTAT, causing harlequin ichthyosis
2013
Abstract Harlequin ichthyosis (HI) is a severe autosomal recessive developmental disorder of the skin that is frequently but not always fatal in the first few days of life. In HI, mutations in both ABCA12 gene alleles must have a severe impact on protein function and most mutations are truncating. The presence of at least one nontruncating mutation (predicting a residual protein function) usually causes a less severe congenital ichthyosis (lamellar ichthyosis or congenital ichthyosiform erythroderma). Here we report on a girl with severe HI diagnosed by prenatal ultrasound at 33 5/7 week gestation. Ultrasound findings included ectropion, eclabium, deformed nose, hands and feet, joint contra…
Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis.
2022
Abstract Background Congenital ichthyosis (CI) is a heterogeneous group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, often associated to erythroderma. They are rare diseases, with overall incidence of 6.7 in 100,000. Clinical manifestations are due to mutations in genes mostly involved in skin barrier formation. Based on clinical presentation, CI is distinguished in non-syndromic and syndromic forms. To date, mutations of more than 50 genes have been associated to different types of CI. Cases presentation We report on three Italian unrelated newborns showing clinical signs compatible with different forms of CI of variable severity, namely Harlequin…
Dysfunction of Oskyddad causes Harlequin-type ichthyosis-like defects in Drosophila melanogaster.
2020
Prevention of desiccation is a constant challenge for terrestrial organisms. Land insects have an extracellular coat, the cuticle, that plays a major role in protection against exaggerated water loss. Here, we report that the ABC transporter Oskyddad (Osy)—a human ABCA12 paralog—contributes to the waterproof barrier function of the cuticle in the fruit fly Drosophila melanogaster. We show that the reduction or elimination of Osy function provokes rapid desiccation. Osy is also involved in defining the inward barrier against xenobiotics penetration. Consistently, the amounts of cuticular hydrocarbons that are involved in cuticle impermeability decrease markedly when Osy activity is reduced. …
Effectiveness and efficiency of a special program to reduce the bariatric surgery waiting list at a tertiary hospital
2021
Graphical abstract
Nouvelle Méthode di Jean-Jacques Lequeu. Ridisegno, analisi grafica e rilettura critica
2021
Nel mese di luglio del 1825, l’architetto-disegnatore Jean-Jacques Lequeu (Rouen 1757-Parigi 1826) confeziona gran parte dei lavori di una vita trascorsa al tavolo da disegno per donarli alla Biblioteca del Re (oggi Biblioteca Nazionale di Francia) appena un anno prima di spegnersi nel suo appartamento di Parigi al numero 33 di rue Saint-Sauveur. Da quel momento il gruppo di disegni appartenuti all’architetto normanno costituirà una delle collezioni più eterogenee e ricche di contenuti di tutto il département des estampes et de la photographie, dove oggi sono custoditi. Di questa insolita raccolta fanno parte alcuni volumi manoscritti corredati da tavole magistralmente acquerellate – come q…
Dramatizing Goldoni's Harlequin in China
2014
Through an analysis of some of the elements of the development of the Chinese theatre, the paper underlines the characteristics of the influence of the Italian theatre in China focusing on the character of Harlequin. Attraverso una disamina di alcuni elementi dello sviluppo teatrale in Cina, il contributo mette in luce le caratteristiche dell'influenza del teatro italiano in Cina ruotando intorno alla figura di Arlecchino.
Dysfunction of Torr causes a Harlequin-type ichthyosis-like phenotype in Drosophila melanogaster
2019
AbstractPrevention of desiccation is a constant challenge for terrestrial organisms. Land insects have an extracellular coat, the cuticle, that plays a major role in protection against exaggerated water loss. Here, we report that the ABC transporter Torr - a human ABCA12 paralog - contributes to the waterproof barrier function of the cuticle in the fruit fly Drosophila melanogaster. We show that the reduction or elimination of Torr function provokes rapid desiccation. Torr is also involved in defining the inward barrier against xenobiotics penetration. Consistently, the amounts of cuticular hydrocarbons that are involved in cuticle impermeability decrease markedly when Torr activity is redu…
Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Soreze 2009
2010
Background: Inherited ichthyoses belong to a large, clinically and etiologically heterogeneous group of mendelian disorders of cornification; typically involving the entire integument. Over the recent years, much progress has been made defining their molecular causes. However, there is no internationally accepted classification and terminology. Objective: We sought to establish a consensus for the nomenclature and classification of inherited ichthyoses. Methods: The classification project started at the First World Conference on Ichthyosis in 2007. A large international network of expert clinicians, skin pathologists, and geneticists entertained an interactive dialogue over 2 years, eventua…