16 research outputs found
Toxoplasma Gondii Infection In 34 pts Submitted To Hematopoietic Stem Cell Transplantation: Analysis From A Single Institution
Post-fire primary production and plant community dynamics in chaparral stands exposed to varying levels of nitrogen deposition
Toxoplasma Gondii Infection In 34 pts Submitted To Hematopoietic Stem Cell Transplantation: Analysis From A Single Institution
Frontiers of polarized electron scattering experiments
Parity-violating electron scattering has developed into a precise and sensitive tool to probe the structure of weak neutral current interactions at Q2≪ MZ2. Steady improvements in experimental techniques have made feasible asymmetry measurements with precision approaching 10 parts per billion and fractional accuracy of a few percent. In the future, upgrades of new facilities, new laboratories and further refinements of experimental techniques should allow us to explore new aspects of the strong and electroweak interactions. We describe some of these ideas in this article.PACS: 12.15.Mm Neutral Currents – 11.30.Er C, P, T and other discrete symmetrie
Carbon and nitrogen storage in soil and litter of southern Californian semi-arid shrublands
Comprehensive study of solid pharmaceutical tablets in visible, near infrared (NIR), and longwave infrared (LWIR) spectral regions using a rapid simultaneous ultraviolet/visible/NIR (UVN) + LWIR laser-induced breakdown spectroscopy linear arrays detection system and a fast acousto-optic tunable filter NIR spectrometer
GM1 gangliosidosis and Morquio B disease: An update on genetic alterations and clinical findings.
GM1 gangliosidosis and Morquio B syndrome, both arising from beta-galactosidase (GLB1) deficiency, are very rare lysosomal storage diseases with an incidence of about 1:100,000-1:200,000 live births worldwide. Here we report the beta-galactosidase gene (GLB1) mutation analysis of 21 unrelated GM1 gangliosidosis patients, and of 4 Morquio B patients, of whom two are brothers. Clinical features of the patients were collected and compared with those in literature. In silico analyses were performed by standard alignments tools and by an improved version of GLB1 three-dimensional models. The analysed cohort includes remarkable cases. One patient with GM1 gangliosidosis had a triple X syndrome. One patient with juvenile GM1 gangliosidosis was homozygous for a mutation previously identified in Morquio type B. A patient with infantile GM1 gangliosidosis carried a complex GLB1 allele harbouring two genetic variants leading to p.R68W and p.R109W amino acid changes, in trans with the known p.R148C mutation. Molecular analysis showed 27 mutations, 9 of which are new: 5 missense, 3 microdeletions and a nonsense mutation. We also identified four new genetic variants with a predicted polymorphic nature that was further investigated by in silico analyses. Three-dimensional structural analysis of GLB1 homology models including the new missense mutations and the p.R68W and p.R109W amino acid changes showed that all the amino acid replacements affected the resulting protein structures in different ways, from changes in polarity to folding alterations. Genetic and clinical associations led us to undertake a critical review of the classifications of late-onset GM1 gangliosidosis and Morquio B disease