Two hereditary syndromes characterized by the association of retinal changes and erythrocytic anomalies have been described: (1) Retinopathy complicating haemoglobin anomalies, thalassaemia (Rudd, Evans, and Peeney, 1953), or sickle-cell anaemia (Lieb, Geeraets, and Guerry, 1959); (2) Atypical retinitis pigmentosa with thorny erythrocytes (acanthocytosis: Bassen and Kornzweig, 1950; Kornzweig a...

Better understanding of disease pathophysiology, improved supportive care and availability of disease-specific treatments for some of the mucopolysaccharidosis (MPS) disorders have greatly improved the outlook for patients with MPS disorders. Optimal management of these multisystemic disorders involves a multidisciplinary team and regular, comprehensive follow-up. Enzyme replacement therapy (ER...

Copyright © 2011 American Heart Association. All rights reserved. Print ISSN: 0009-7322. Online 72514 Circulation is published by the American Heart Association. 7272 Greenville Avenue, Dallas, TX DOI: 10.1161/CIRCULATIONAHA.110.000125 2011;123;1537-1544; originally published online Mar 28, 2011; Circulation Patients (CADISP) Group Dallongeville and on behalf of the Cervical Artery Dissection a...

Della Corte, V.; Rotundi, A.; Accolla, M.; Sordini, R.; Palumbo, P.; Colangeli, L.; Lopez-Moreno, J. J.; Rodriguez, J.; Rietmeijer, F. J. M.; Ferrari, M.; Lucarelli, F.; Mazzotta Epifani, E.; Ivanovski, S.; Aronica, A.; Cosi, M.; Bussoletti, E.; Crifo, J. F.; Esposito, F.; Fulle, M.; Green, S. F.; Gruen, E.; Herranz, M. L.; Jeronimo, J. M.; Lamy, P.; Lopez Jimenez, A.; McDonnell, J. A. M.; Menn...

The Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI; MPS VI) is a lysosomal storage disease caused by deficiency of the enzyme arylsulphatase B (ASB). A human ASB cDNA has been subcloned into the retroviral vector pXT1 containing the bacterial neomycin-resistance gene and an internal thymidine kinase promoter for transcription of the inserted gene. Replication defective retrovirus was ge...

Ahhough the US trade deficit hm penited sinm 1975, the collllry changed in 2009 from a net iqiorter to a net exporter of forest produits, emerging as 1he wurld's largest exporter of forest produits. Drawing on recent dato, we model the real dollar Vlllue of US exports, imporb, and the trade balanm in forest pnxluds ta identify fadors likely to explain tlis shift. We find that US dollar deprecia...

In search for a singleton target, performance is considerably improved when the target and distractors repeat than when they switch roles, an effect called priming of pop-out or PoP (Maljkovic & Nakayama, 1994). Although this phenomenon has been replicated across a variety of dimensions, orientation PoP has proved to be volatile. Recent research has shown that target activation and distractor i...

Pycnodysostosis is a rare clinical entity, first described in 1962 by Maroteaux and Lamy. It is a genetic disorder, usually diagnosed at an early age. However, the diagnosis is sometimes late, made as a result of bone fracture, given the severe bone fragility resulting from increased bone density. Oral and maxillofacial manifestations of this disease are very clear. The head is usually large, t...