Clinical evaluation and COL2A1 gene analysis in 21 Brazilian families with Stickler syndrome: Identification of novel mutations, further genotype/phenotype correlation, and its implications for the diagnosis

We present clinical and molecular evaluation from a large cohort of patients with Stickler syndrome: 78 individuals from 21 unrelated Brazilian families. The patients were selected in a Hospital with a craniofacial dysmorphology assistance service and clinical diagnosis was based on the presence of cleft palate associated to facial and ocular anomalies of Stickler syndrome. Analysis of COL2A1 gene revealed 9 novel and 4 previously described pathogenic mutations. Except for the mutation c.556G>T (p.Gly186X), all the others were located in the triple helical domain. We did not find genotype/phenotype correlation in relation to type and position of the mutation in the triple helical domain. However, a significantly higher proportion of myopia in patients with mutations located in this domain was observed in relation to those with the mutation in the non-tripe helical domain (c.556G>T; P < 0.04). A trend towards a higher prevalence of glaucoma, although not statistically significant, was observed in the presence of the mutation c.556G>T. It is possible. that this mutation alters the splicing of the mRNA instead of only creating a premature stop codon and therefore it can lead to protein products of different ocular effects. One novel DNA variation (c.1266+7G>C) occurs near a splice site and it was observed to co-segregate with the phenotype in one of the two families with this DNA variation. As in silico analysis predicted that the c.1266+7G>C DNA variation can affect the efficiency of the splicing, we still cannot rule it out as non-pathogenic. Our study also showed that ascertainment through cleft palate associated to other craniofacial signs can be very efficient for identification of Stickler syndrome patients. Still, high frequency of familial cases and high frequency of underdevelopment of distal lateral tibial epiphyses observed in our patients suggested that the inclusion of this information can improve the clinical diagnosis of Stickler syndrome. (C) 2008 Elsevier Masson SAS. All rights reserved.

Further probing the nature of FSR 1767

With Two-Micron All-Sky Survey (2MASS) photometry and proper motions, Bonatto et al. suggested that FSR 1767 is a globular cluster (GC), while with J and K NTT/SOFI photometry Froebrich, Meusinger & Scholz concluded that it is not a star cluster. In this study, we combine previous and new evidence that are consistent with a GC. For instance, we show that the horizontal branch (HB) and red giant branch (RGB) stars, besides sharing a common proper motion, have radial density profiles that consistently follow the King`s law independently. Reddening maps around FSR 1767 are built using the bulge RGB as reference and also Schlegel`s extinction values to study local absorptions. Both approaches provide similar maps and show that FSR 1767 is not located in a dust window, which otherwise might have produced the stellar overdensity. Besides, neighbouring regions of similar reddening as FSR 1767 do not present the blue HB stars that are a conspicuous feature in the colour-magnitude diagram of FSR 1767. We report the presence of a compact group of stars located in the central parts of FSR 1767. It appears to be a detached post-collapse core, similar to those of other nearby low-luminosity GCs projected towards the bulge. We note that while the NTT/SOFI photometry of the star cluster FSR 1716 matches perfectly that from 2MASS, it shows a considerable offset for FSR 1767. We discuss the possible reasons why both photometries differ. We confirm our previous structural and photometric fundamental parameters for FSR 1767, which are consistent with a GC.

Potentially bioavailable metals in sediment from a tropical polymictic environment-Rio Grande Reservoir, Brazil

Background, aim and scope Although many recent studies have focused on sediment potential toxicity, few of them were performed in tropical shallow aquatic environments. Those places can suffer short-time variations, especially due to water column circulations generated by changes in temperature and wind. Rio Grande reservoir is such an example; aside from that, it suffers various anthropogenic impacts, despite its multiple uses. Materials and methods This work presents the first screening step for understanding sediment quality from Rio Grande reservoir by comparing metal content using three different sediment quality guidelines. We also aimed at verifying any possible spatial heterogeneity. Results and discussion We found spatial heterogeneity varying according to the specific metal. Results showed a tendency for metals to remain as insoluble as metal sulfide (potentially not bioavailable), since sulfide was in excess and sediment physical-chemical characteristics contribute to sulfide maintenance (low redox potential, neutral pH, low dissolved oxygen, and high organic matter content). On the other hand, metal concentrations were much higher than suggested by Canadian guidelines and regional background values, especially Cu, which raises the risk of metal remobilization in cases of water circulation. Further study steps include the temporal evaluation of AVS/SEM, a battery of bioassays and the characterization of organic compounds.

Modified abbreviated transcavernous approach to basilar artery aneurysms-Case report

Background: Endovascular procedures and direct surgical clipping, are the main therapeutic modalities for managing of BAAs. Furthermore, giant or wide-necked aneurysms and those that involve the PCA or perforators at its neck usually are not embolized. Case Description: A 55-year-old man presented to the emergency room complaining Of Sudden and intense headache. Neurological examination evidenced meningismus. Computed tomography disclosed a subarachnoid hemorrhage (Fisher grade III). Arteriograms revealed BAA, whose neck was partially obseured by the PCP. A standard pterional craniotomy was performed, followed. by extensive drilling of the greater sphenoid wing. The neck was partially hidden by the PCP, and no proximal control was obtained without drilling the PCP and opening the CS (modified TcA). Drilling of the PCP was begun by cutting the overlying dura and extended caudally as much as possible. Next. opening, of the roof of the CS was performed by incising the dura in the oculomotor trigone medical and parallel 10 the oculomotor nerve and lateral to ICA: the incision progressed posteriorly toward the dorsum sellae. Further resection of the dorsum sellac and clivus was carried out. After performing these steps, proximal control was obtained, aneurysm was deflated, perforators were saved. and aneurysm was clipped. Conclusions: This study has demonstrated the clinical Usefulness of and abbreviated form of the TcA, which led the ""modified TcA."" in approaching complex low-lying, BAA. It provides additional surgical room by removing the PCP and partially, opening the CS, which permits further bone removal and improves exposure. (C) 2009 Elsevier Inc. All rights reserved.

A further exploration of a nucleophilicity index based on the gas-phase ionization potentials

An empirical nucleophilicity index based on the gas-phase ionization potentials has been recently shown to be useful categorizing and settling the nucleophilicity power of a series of captodative ethylenes reacting in cycloaddition reactions (L.R. Domingo, E. Chamorro, P. Perez, Journal of Organic Chemistry 73 (2008) 4615-4624). In the present work, the applicability of such model is tested within a broader series of substituted alkenes, substituted aromatic compounds and simple nucleophilic molecules. This index obtained within a Koopman`s theorem framework has been evaluated here in both gas and solution phases for several well-known nucleophiles. These results are found to be linearly correlated. Finally, the feasibility of the predictive character of this index has been discussed in comparison to the available experimental nucleophilicities of some amines in water. These results further support and validate the usefulness of such approximation in the modeling of the global nucleophilicity. (C) 2008 Elsevier B.V. All rights reserved.

The role of oxygen in the interaction of emeraldine base polyaniline with Cu(II) or Fe(III) ions in NMP solution

The influence of molecular oxygen in the interactions of emeraldine base form of polyaniline (EB-PANI) with Fe(III) or Cu(II) ions in 1-methyl-2-pyrrolidinone (NMP) solutions has been investigated by UV-vis-NIR, resonance Raman and electron paramagnetic resonance (EPR) spectroscopies. Through the set of spectroscopic results it was possible to rationalize the role Of O(2) and to construct a scheme of preferential routes occurring in the interaction of EB-PANI with Fe(III) or Cu(II). Solutions of 4.0 mmol L(-1) EB-PANI with 0.8, 2.0 and 20 mmol L(-1) Fe(III) or Cu(II) ions in NMP were investigated and the main observed reactions were EB-PANI oxidation to pernigraniline (PB-PANI) and EB-PANI doping process by pseudo-protonation, or by a two-step redox process. In the presence Of O(2), PB-PANI is observed in all Fe(III)/EB solutions and EB-PANI doping only occurs in solutions with high Fe(III) concentrations through pseudo-protonation. On the other hand, emeraldine salt (ES-PANI) is formed in all Fe(III)/EB solutions under N(2) atmosphere and, in this case, doping occurs both by the pseudo-protonation and two-step redox mechanisms. In all Cu(II)/EB solutions PB-PANI is formed both in the presence and absence of O(2), and only for solutions with high Cu(II) concentrations doping process occurs in a very low degree. The most important result from EPR spectra was providing evidence for redox steps. The determined Cu(II) signal areas under oxygen are higher than under N(2) and, further. the initial metal proportions (1:2:20) are maintained in these spectra, indicating that Cu(I) formed are re-oxidized by O(2) and. so, Cu(II) ions are being recycled. Consistently, for the solutions prepared under nitrogen, the corresponding areas and proportions in the spectra are much lower, confirming that a partial reduction of Cu(II) ions actually occurs. (C) 2009 Elsevier B.V. All rights reserved.

Further studies on peptide synthesis at high temperature

Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

The influence of perhydroazepine and piperidine as further ancillary ligands on Ru-PPh(3)-based catalysts for ROMP of norbornene and norbornadiene

Polynorbornadiene and polynorbornene were synthesized via ring opening metathesis polymerization (ROMP) with [RuCl(2)(PPh(3))(2)(amine)] as catalyst precursors, amine = piperidine (1) or perhydroazepine (2) in the presence of 5 mu L of ethyl diazoacetate (EDA) ([monomer]/[Ru] = 5000; 40 degrees C with 1; 25 degrees C with 2). The effects of the solvent volume (2-8 mL of CHCl(3)) reaction time (5-120 min) and atmosphere type (argon and air) on the yields were investigated to observe the behavior of the two different precursors. Quantitative yields were obtained for 60 or 120 min regardless of the starting volumes, either in argon or air, with both Ru species. However, low yields were obtained for short times (5-30 min) when the reactions are performed with large volumes (6-8 mL). In argon, the yields were larger with 2, associated to a faster propagation reaction controlled by the Ru active species. In air, the yields were larger with 1, associated to a higher resistance to O(2) of the starting and propagating Ru species. The different activities between 1 and 2 are discussed considering the steric hindrance and electronic characteristics of the amines such as ancillary ligands and their arrangements with PPh(3) and Cl(-) ions in the metal centers. (c) 2009 Elsevier B.V. All rights reserved.