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Electrochemical tests of nitrate reduction on Boron-Doped Diamond cathode are investigated through a Design of Experiments (DOE) method. The results show good reduction of nitrate into almost exclusively N2. In the studied domain, the best experimental conditions are high initial nitrate content, low acidic pH values and low working current densities. The application of DOE conclusions on an agro-industrial wastewater gives really satisfying results: final nitrate contents lower than 50 mg/L without nitrite or ammonium formation, and with low energy consumption (under 25 kWh/kgNO3). [ABSTRACT FROM AUTHOR]

High-resolution array-comparative genome hybridization (CGH) is a powerful tool for detection of submicroscopic chromosome deletions and duplications. We describe two patients with mild mental retardation (MR) and de novo microdeletions of 17q11.2q12. Although the deletions did not involve the neurofibromatosis type 1 (NF1) gene, they overlap with long-range deletions of the NF1 region which have been encountered in a small group of NF1 patients with more severe MR. Given the overlap of the deletions in our two patients with the large-sized NF1 microdeletions but not with the more frequent and smaller NF1 deletions, we hypothesize that more than one gene in the 17q11.2q12 region may be involved in MR. We discuss candidate genes for MR within this interval that was precisely defined through array-CGH analysis. [ABSTRACT FROM AUTHOR]

This study aimed to evaluate the response to and safety of an 8-day course of sapropterin dihydrochloride (6 R-tetrahydrobiopterin or 6 R-BH4) 10 mg/kg per day in patients with phenylketonuria (PKU), who have elevated blood phenylalanine (Phe) levels, and to identify a suitable cohort of patients who would respond to sapropterin dihydrochloride treatment with a reduction in blood Phe level. Eligible patients were aged ≥ 8 years, had blood Phe levels ≥ 450 μmol/L and were not adhering to a Phe-restricted diet. Suitable patients were identified by a ≥30% reduction in blood Phe level from baseline to day 8 following sapropterin dihydrochloride treatment. The proportion of patients who met these criteria was calculated for the overall population and by baseline Phe level (<600, 600 to <900, 900 to <1200 and ≥1200 μmol/L). In total, 485/490 patients completed the study and 20% (96/485) were identified as patients who would respond to sapropterin dihydrochloride. A reduction in Phe level was observed in all subgroups, although response was greater in patients with lower baseline Phe levels. Wide variability in response was seen across all baseline Phe subgroups. The majority of adverse events were mild and all resolved without complications. Sapropterin dihydrochloride was well tolerated and reduced blood Phe levels across all PKU phenotypes tested. Variability in reduction of Phe indicates that the response to sapropterin dihydrochloride cannot be predicted by baseline Phe level. [ABSTRACT FROM AUTHOR]

Abstract: Commercial polysaccharase preparations are applied to winemaking to improve wine processing and quality. Expression of polysaccharase-encoding genes in Saccharomyces cerevisiae allows for the recombinant strains to degrade polysaccharides that traditional commercial yeast strains cannot. In this study, we constructed recombinant wine yeast strains that were able to degrade the problem-causing grape polysaccharides, glucan and xylan, by separately integrating the Trichoderma reesei XYN2 xylanase gene construct and the Butyrivibrio fibrisolvens END1 glucanase gene cassette into the genome of the commercial wine yeast strain S. cerevisiae VIN13. These genes were also combined in S. cerevisiae VIN13 under the control of different promoters. The strains that were constructed were compared under winemaking conditions with each other and with a recombinant wine yeast strain expressing the endo-β-1,4-glucanase gene cassette (END1) from B. fibrisolvens and the endo-β-1,4-xylanase gene cassette (XYN4) from Aspergillus niger, a recombinant strain expressing the pectate lyase gene cassette (PEL5) from Erwinia chrysanthemi and the polygalacturonase-encoding gene cassette (PEH1) from Erwinia carotovora. Wine was made with the recombinant strains using different grape cultivars. Fermentations with the recombinant VIN13 strains resulted in significant increases in free-flow wine when Ruby Cabernet must was fermented. After 6 months of bottle ageing significant differences in colour intensity and colour stability could be detected in Pinot Noir and Ruby Cabernet wines fermented with different recombinant strains. After this period the volatile composition of Muscat d’Alexandria, Ruby Cabernet and Pinot Noir wines fermented with different recombinant strains also showed significant differences. The Pinot Noir wines were also sensorial evaluated and the tasting panel preferred the wines fermented with the recombinant strains. [Copyright &y& Elsevier]

BACKGROUND: There is empirical evidence suggesting that individuals with bulimia nervosa vary considerably in terms of psychiatric co-morbidity and personality functioning. In this study, latent profile analysis was used to attempt to identify clusters of bulimic subjects based on psychiatric co-morbidity and personality. METHOD: A total of 178 women with bulimia nervosa or a subclinical variant of bulimia nervosa completed a series of self-report inventories of co-morbid psychopathology and personality, and also provided a buccal smear sample for genetic analyses. RESULTS: Three clusters of bulimic women were identified: an affective-perfectionistic cluster, an impulsive cluster, and a low co-morbid psychopathology cluster. The clusters showed expected differences on external validation tests with both personality and eating-disorder measures. The impulsive cluster showed the highest elevations on dissocial behavior and the lowest scores on compulsivity, while the affective-perfectionistic cluster showed the highest levels of eating-disorder symptoms. The clusters did not differ on genetic variations of the serotonin transporter gene. CONCLUSIONS: This study corroborates previous findings suggesting that the bulimia nervosa diagnostic category is comprised of three classes of individuals based on co-morbid psychopathology and personality. These differences may have significant etiological and treatment implications. [ABSTRACT FROM AUTHOR]