Search results for "Williams"

Achados orais na síndrome de williams-beuren

2017

Background: Williams-Beuren syndrome (WBS; OMIM #194050) is a developmental disorder characterized by congenital heart disease, intellectual disability, dysmorphic facial features and ophthalmologic abnormalities. Oral abnormalities are also described in clinical manifestations of the disease. This paper describes orofacial features in patients with WBS. Material and Methods: Seventeen patients with a confirmed molecular diagnosis of WBS were examined for oral abnormalities through clinical oral evaluations and panoramic radiography. Results: Malocclusion, specifically with dental midline deviation, and high-arched palate were the most common findings. Conclusions: The present results contr…

Stenosis coexists with compromised α1-adrenergic contractions in the ascending aorta of a mouse model of Williams-Beuren syndrome

2020

Williams-Beuren syndrome (WBS) is a rare disorder caused by a heterozygous deletion of 26-28 contiguous genes that affects the brain and cardiovascular system. Here, we investigated whether WBS affects aortic structure and function in the complete deletion (CD) mouse model harbouring the most common deletion found in WBS patients. Thoracic aortas from 3-4 months-old male CD mice and wild-type littermates were mounted in wire myographs or were processed for histomorphometrical analysis. Nitric oxide synthase (NOS) isoforms and oxidative stress levels were assessed. Ascending aortas from young adult CD mice showed moderate (50%) luminal stenosis, whereas endothelial function and oxidative str…

Adaptive BEM for Low Noise Propeller Design

2009

A potential-based Boundary Element Method is presented for the aerodynamic and acoustic design of propel- lers at on- and off-design point conditions. Using an adaptive method, a family of airfoil sections is selected to produce the required performance (thrust, torque and efficiency versus advance ratio) at different cruise flight levels. Climb condi- tions are also considered in order to check the off-design point performance. Once the available airfoil data have been stored in a database, the code processes the families of airfoils to generate a complete geometry for a propeller of the specified performance with an optimized noise emission. The computational scheme adjusts the blade geom…

Evolution of the Human chromosome 7: new information from the mapping of William-Breuren locus on non human primates chromosomes.

2004

Human chromosome 7 (HSA7) derives, by a pericentric inversion and a paracentric inversion, from an ancestral chromosome homologous to chromosome 10 of Pongo pygmaeus (the Asiatic Orang-Utan). Nevertheless the genesis of this autosome during primates evolution is not clear. Even if chromosome painting shows that HAS 7 synteny is highly conserved, GTG-banding comparison in Hominoidea and Cercopithecoidea indicates the probable occurrence of complex rearrangements during the evolution. In this study we used a single locus FISH approach, a powerful tool to detect fine rearrangements, in order to investigate the evolution of HAS 7. We report the chromosome mapping of Williams-Beuren syndrome loc…

Self-knowledge, Authenticity and Obedience

2014

In questo articolo propongo un descrizione del privilegio epistemico dato alla prospettiva della prima persona, alla quale si relaziona un certo tipo di potere su sé stessi. Vorrei mettere in discussione il punto di vista di Robert Dumm e Richard Moran sul problema del soggetto e abbozzare un approccio alternativo. A tal fine, vorrei per prima cosa avvalermi delle nozioni di Bernard William di riconoscimento e di donazione di senso e, in secondo luogo, utilizzare la distinzione di Simone Weil tra i due sensi di obbedienza e la nozione, ad essa associata, di attenzione. In contrasto con la visione di Moran e Dunn, concluderei affermando che un certo tipo di autopercezione è centrale nel nost…

Rediscovery of the allegedly “destroyed” holotype of Weltrichia fabrei Saporta, 1891 from the Rhaetian?/Hettangian of Lozère (Southern France)

2018

7 pages; International audience; A sandstone slab bearing plant macro-remains was rediscovered during recent investigations led in the buildings of the old Musée Ignon-Fabre (Mende) which were closed in 1995 and emptied in 2003. The study of the slab clearly allows it to be identified as the holotype of Weltrichia fabrei Saporta, 1891 which has been considered destroyed since the end of the 20th Century. Gaston de Saporta described this Bennettitalean fructification based on a cast and considered the type locality as Rhaetian in age. In the present paper, based on the holotype, W. fabrei was revised in order to describe and illustrate the specimen in detail. It consists of a cup with one wh…

Reshaping Monetary Policy after the Great Crash: John H. Williams at the NY FED

2020

John H. Williams was an influential economist and central banker in the interwar years. A Harvard University professor since 1929 specialized in international trade and monetary economics, he joined the NY Fed in 1933 and became its vice-President in 1936. This paper aims to provide a general assessment of Williams’ contributions to monetary and fiscal policy during his tenure at the NY FED. We shall try to do so by following a twofold perspective: i. establish connections between Williams’ more theoretical works, his interpretations of the great depression and some policy decisions enacted by the FED in the 1930s; ii. provide new archival evidence on what was the part Williams played in th…

Discussion of “Modified Hazen–Williams and Darcy–Weisbach Equations for Friction and Local Head Losses along Irrigation Laterals” by John D. Valiantz…

2007

Chromosomal Dynamics in Cercopithecini Studied by Williams-Beuren probe mapping

2010

Chromosomal evolution in the tribe Cercopithecini and in related taxa is highly debated. Uncertainty in reconstruction is mainly related to the great genetic variability and polymorphism of the taxa. Recent molecular and karyological efforts individuate a split between genetically conservative, arbitrarily defi ned, “terrestrial” guenons and vervets, and genetically variable and derived “arboreal” guenons. We performed the mapping of WS loci probe (7q11.23) in order to verify the chromosomal dynamics of the genomes of three tree-dwelling species of the tribe: C. neglectus, C. mitis mitis, C. albogularis labiatus. Data from literature for the “ground-dwelling” Chlorocebus aethiops sabaeus ha…

Exploring Evolution in Ceboidea (Platyrrhini, Primates) by Williams-Beuren Probe (HSA 7q11.23) Chromosome Mapping

2007

The ancestral platyrrhine karyotype was characterised by a syntenic association of human 5 and a small segment of human 7 orthologues. This large syntenic association has undergone numerous rearrangements in various phylogenetic lines. We used a locus-specific molecular cytogenetic approach to study the chromosomal evolution of the human 7q11.23 orthologous sequences (William-Beuren syndrome, WS) in various Ceboidea (Platyrrhini) species. The fluorescent in situ hybridisation of the WS probe revealed a two-way pattern of chromosomal organisation that suggests various evolutionary scenarios. The first pattern (seen in Callimico and Saimiri ) includes a fairly simple disruption of the 7/5 syn…