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There is debate as to whether community genetic screening for the mutation(s) causing hereditary hemochromatosis (HH) should be implemented, due to issues including disease penetrance, health economic outcomes, and concerns about community acceptance. Hemochromatosis is a common preventable iron overload disease, due in over 90% of cases to C282Y homozygosity in the HFE gene. We are, therefore, piloting C282Y screening to assess understanding of genetic information and screening acceptability in the workplace setting. In this program, HaemScreen, education was by oral or video presentation in a group setting. C282Y status was assessed by polymerase chain reaction (PCR) and melt-curve analysis on DNA obtained by cheek-brush sampling. Of eligible participants, 5.8% (1.5-15.8%) attended information and screening sessions, of whom 97.7% (5571 individuals) chose to be tested. Twenty-two C282Y (1:253) homozygotes were identified and offered clinical follow-up. There were 638 heterozygotes (1:8.7). The determinants for participation have been analyzed in terms of the principles outlined in the Health Belief Model. Widespread screening for HH is readily accepted in a workplace setting, and a one-to-many education program is effective. The level of participation varies greatly and the advertising and session logistics should be adapted to the specific features of each workplace. [ABSTRACT FROM AUTHOR]

Leiurotoxin I is a neurotoxin, blocker of Ca2+-activated apamin-sensitive K+ channel, purified from the venom of the scorpion Leiurus quinquestriatus hebraeus. It is a 31-residue polypeptide reticulated by three disulfide bridges, i.e. Cys3-Cys21, Cys8-Cys26 and Cys12-Cys28. To investigate the role of these disulfide bridges in the folding of this toxin, analogs lacking one disulfide bridge were synthesized. The structures of two analogs in which two half-cystines were replaced by α-aminobutyrate residues to suppress one disulfide bridge, were analyzed by 1H NMR. The NMR studies reveal a three-dimensional structure identical with the native toxin for the analog lacking disulfide bridge Cys3-Cys21 and a loss of organized structure for another analog lacking disulfide bridge Cys12-Cys28. These analogs are, respectively, fully active and only weakly active (2% of the residual activity) when tested in vitro for their ability to interact with their receptor channel and in vivo for their neurotoxic activity in mice. This suggests that disulfide bridge Cys12-Cys28 is essential for the folding process. In contrast, the lack of disulfide bridge Cys3-Cys21 does not affect the folding and the maintenance of bioactive conformation of Leiurotoxin I. [ABSTRACT FROM AUTHOR]

This study deals with an experimental investigation into the trans-esterification behavior of two biocatalysts produced by different immobilization techniques of the same lipase from Pseudomonas cepacia. Biocatalysts catalyzed trans-esterification of commercial frying oil. It was verified that no enzyme leaching occurs and stepwise addition of ethanol is needed to improve the process performance. When stoichiometric ethanol has been added completely at the beginning of the reaction, percent mass fraction of esters reached 33% after 9 h and 52% after 30 h. Instead, when ethanol has been added in steps, ester production gradually increased at any time. Moreover, different amounts of biocatalyst were added to the reaction system and it was found that it is not necessary to add more than 3% of biocatalyst with respect to the oil mass to avoid inhibition. The immobilization method influences the reaction progress and the intermediate-glyceride profiles were analyzed. Results showed that the two biocatalysts have the same affinity towards triglycerides, but the covalently immobilized lipase (epobond P. cepacia) has a lower affinity towards diglycerides and monoglycerides and, in general, a lower activity than the absorbed lipase (lipo P. cepacia). [ABSTRACT FROM AUTHOR]