Intraseasonal and Interannual Variability of Extreme Dry and Wet Events over Southeastern South America and the Subtropical Atlantic during Austral Summer

Intraseasonal and interannual variability of extreme wet and dry anomalies over southeastern Brazil and the western subtropical South Atlantic Ocean are investigated. Precipitation data are obtained from the Global Precipitation Climatology Project (GPCP) in pentads during 23 austral summers (December-February 1979/80-2001/02). Extreme wet (dry) events are defined according to 75th (25th) percentiles of precipitation anomaly distributions observed in two time scales: intraseasonal and interannual. The agreement between the 25th and 75th percentiles of the GPCP precipitation and gridded precipitation obtained from stations in Brazil is also examined. Variations of extreme wet and dry anomalies on interannual time scales are investigated along with variations of sea surface temperature (SST) and circulation anomalies. The South Atlantic SST dipole seems related to interannual variations of extreme precipitation events over southeastern Brazil. It is shown that extreme wet and dry events in the continental portion of the South Atlantic convergence zone (SACZ) are decoupled from extremes over the oceanic portion of the SACZ and there is no coherent dipole of extreme precipitation regimes between tropics and subtropics on interannual time scales. On intraseasonal time scales, the occurrence of extreme dry and wet events depends on the propagation phase of extratropical wave trains and consequent intensification (weakening) of 200-hPa zonal winds. Extreme wet and dry events over southeastern Brazil and subtropical Atlantic are in phase on intraseasonal time scales. Extreme wet events over southeastern Brazil and subtropical Atlantic are observed in association with low-level northerly winds above the 75th percentile of the seasonal climatology over central-eastern South America. Extreme wet events on intraseasonal time scales over southeastern Brazil are more frequent during seasons not classified as extreme wet or dry on interannual time scales.

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.

Climatological features of cutoff low systems in the Southern Hemisphere

Cutoff lows (COLs) pressure systems climatology for the Southern Hemisphere (SH), between 10 degrees S and 50 degrees S, using the National Center for Environmental Prediction-National Center for Atmospheric Research (NCEP-NCAR) and the ERA-40 European Centre for Medium Range Weather Forecast (ECMWF) reanalyses are analyzed for the period 1979-1999. COLs were identified at three pressure levels (200, 300, and 500 hPa) using an objective method that considers the main physical characteristics of the conceptual model of COLs. Independently of the pressure level analyzed, the climatology from the ERA-40 reanalysis has more COLs systems than the NCEP-NCAR. However, both reanalyses present a large frequency of COLs at 300 hPa, followed by 500 and 200 hPa. The seasonality of COLs differs at each pressure level, but it is similar between the reanalyses. COLs are more frequent during summer, autumn, and winter at 200, 300, and 500 hPa, respectively. At these levels, they tend to occur around the continents, preferentially from southeastern Australia to New Zealand, the south of South America, and the south of Africa. To study the COLs at 200 and 300 hPa from a regional perspective, the SH was divided in three regions: Australia-New Zealand (60 E-130 W), South America (130 degrees W-20 degrees W), and southern Africa (20 degrees W-60 degrees E). The common COLs features in these sectors for both reanalyses are a short lifetime (similar to 80.0% and similar to 70.0% of COLs at 200 and 300 hPa, respectively, persisting for up to 3 days), mobility (similar to 70.0% and similar to 50% of COLs at 200 and 300 hPa, respectively, traveling distances of up to 1200 km), and an eastward propagation.

Regional representativity of AERONET observation sites during the biomass burning season in South America determined by correlation studies with MODIS Aerosol Optical Depth

This paper presents an analysis of ground-based Aerosol Optical Depth (AOD) observations by the Aerosol Robotic Network (AERONET) in South America from 2001 to 2007 in comparison with the satellite AOD product of Moderate Resolution Imaging Spectroradiometer (MODIS), aboard TERRA and AQUA satellites. Data of 12 observation sites were used with primary interest in AERONET sites located in or downwind of areas with high biomass burning activity and with measurements available for the full time range. Fires cause the predominant carbonaceous aerosol emission signal during the dry season in South America and are therefore a special focus of this study. Interannual and seasonal behavior of the observed AOD at different sites were investigated, showing clear differences between purely fire and urban influenced sites. An intercomparison of AERONET and MODIS AOD annual correlations revealed that neither an interannual long-term trend may be observed nor that correlations differ significantly owing to different overpass times of TERRA and AQUA. Individual anisotropic representativity areas for each AERONET site were derived by correlating daily AOD of each site for all years with available individual MODIS AOD pixels gridded to 1 degrees x 1 degrees. Results showed that for many sites a good AOD correlation (R(2) > 0.5) persists for large, often strongly anisotropic, areas. The climatological areas of common regional aerosol regimes often extend over several hundreds of kilometers, sometimes far across national boundaries. As a practical application, these strongly inhomogeneous and anisotropic areas of influence are being implemented in the tropospheric aerosol data assimilation system of the Coupled Chemistry-Aerosol-Tracer Transport Model coupled to the Brazilian Regional Atmospheric Modeling System (CCATT-BRAMS) at the Brazilian National Institute for Space Research (INPE). This new information promises an improved exploitation of local site sampling and, thus, chemical weather forecast.

Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching

Duplication at the Xq28 band including the MECP2 gene is one of the most common genomic rearrangements identified in neurodevelopmentally delayed males. Such duplications are non-recurrent and can be generated by a non-homologous end joining (NHEJ) mechanism. We investigated the potential mechanisms for MECP2 duplication and examined whether genomic architectural features may play a role in their origin using a custom designed 4-Mb tiling-path oligonucleotide array CGH assay. Each of the 30 patients analyzed showed a unique duplication varying in size from similar to 250 kb to similar to 2.6 Mb. Interestingly, in 77% of these non-recurrent duplications, the distal breakpoints grouped within a 215 kb genomic interval, located 47 kb telomeric to the MECP2 gene. The genomic architecture of this region contains both direct and inverted low-copy repeat (LCR) sequences; this same region undergoes polymorphic structural variation in the general population. Array CGH revealed complex rearrangements in eight patients; in six patients the duplication contained an embedded triplicated segment, and in the other two, stretches of non-duplicated sequences occurred within the duplicated region. Breakpoint junction sequencing was achieved in four duplications and identified an inversion in one patient, demonstrating further complexity. We propose that the presence of LCRs in the vicinity of the MECP2 gene may generate an unstable DNA structure that can induce DNA strand lesions, such as a collapsed fork, and facilitate a Fork Stalling and Template Switching event producing the complex rearrangements involving MECP2.

Intermolecular Contacts Influencing the Conformational and Geometric Features of the Pharmaceutically Preferred Mebendazole Polymorph C

Mebendazole (MBZ) is a common benzimidazole anthelmintic that exists in three different polymorphic forms, A, B, and C. Polymorph C is the pharmaceutically preferred form due to its adequated aqueous solubility. No single crystal structure determinations depicting the nature of the crystal packing and molecular conformation and geometry have been performed on this compound. The crystal structure of mebendazole form C is resolved for the first time. Mebendazole form C crystallizes in the triclinic centrosymmetric space group and this drug is practically planar, since the least-squares methyl benzimidazolylcarbamate plane is much fitted on the forming atoms. However, the benzoyl group is twisted by 31(1)degrees from the benzimidazole ring, likewise the torsional angle between the benzene and carbonyl moieties is 27(1)degrees. The formerly described bends and other interesting intramolecular geometry features were viewed as consequence of the intermolecular contacts occurring within mebendazole C structure. Among these features, a conjugation decreasing through the imine nitrogen atom of the benzimidazole core and a further resonance path crossing the carbamate one were described. At last, the X-ray powder diffractogram of a form C rich mebendazole mixture was overlaid to the calculated one with the mebendazole crystal structure. (C) 2008 Wiley-Liss, Inc. and the American Pharmacists Association J Pharm Sci 98:2336-2344, 2009