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101.
Palmoplantar keratoderma is a clinically polymorphic disorder with a heterogeneous etiology characterized by marked hyperkeratotic lesions on the surface of palms and soles. Hereditary forms of palmoplantar keratoderma usually have autosomal dominant inheritance and are caused by mutations in dozens of genes, most of which belong to the keratin family. We carried out clinical and molecular genetic analysis of the affected and healthy members of four families with autosomal dominant palmoplantar keratoderma. In three out of four family cases of autosomal dominant palmoplantar keratoderma, the following molecular genetic causes were established: in two families—previously non-described missense mutations in the AQP5 gene (NM_001651.4): c.369C>G (p.(Asn123Lys)) and c.103T>G (p.(Trp35Gly)); in one family—a described splice site mutation in the KRT9 gene (NM_000226.4): c.31T>G. In one family, the possible cause of palmoplantar keratoderma was detected—a variant in the KRT1 gene (NM_006121.4): c.931G>A (p.(Glu311Lys)).  相似文献   
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The inhibitory potency of the series of inhibitors of the soluble epoxide hydrolase (sEH) based on the selenourea moiety and containing adamantane and aromatic lipophilic groups ranges from 34.3 nM to 1.2 μM. The most active compound 5d possesses aliphatic spacers between the selenourea group and lipophilic fragments. Synthesized compounds were tested against the LPS-induced activation of primary murine macrophages. The most prominent anti-inflammatory activity, defined as a suppression of nitric oxide synthesis by LPS-stimulated macrophages, was demonstrated for compounds 4a and 5b. The cytotoxicity of the obtained substances was studied using human neuroblastoma and fibroblast cell cultures. Using these cell assays, the cytotoxic concentration for 4a was 4.7–18.4 times higher than the effective anti-inflammatory concentration. The genotoxicity and the ability to induce oxidative stress was studied using bacterial lux-biosensors. Substance 4a does not exhibit genotoxic properties, but it can cause oxidative stress at concentrations above 50 µM. Put together, the data showed the efficacy and safety of compound 4a.  相似文献   
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Summary Polymerized micelles of poly(11-acryloylaminoundecanoic acid) were obtained via radical polymerization in micellar state. The structure of micelles was fixed by cross-linking of the micelle core using solubilized diacrylate co-monomer. Hydrodynamic behavior of both cross-linked and non cross-linked polymerized micelles was studied by means of viscometry.  相似文献   
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Eight homing pigeons were trained preoperatively on a mixed delayed matching-to-sample (DMTS) task in which 6 different conditions were presented randomly: simultaneous matching and 0-, 1-, 2-, 4-, and 8-sec delays. Ss that sustained extensive or complete damage to the visual Wulst, a multilaminate region in the pigeon telencephalon which occupies the dorsal aspect of the cerebral hemisphere, and moderate damage to the hyperstriatum ventrale showed a decrease in accuracy of performance to chance levels in all of the delay conditions as well as in simultaneous matching. After extensive retraining on the 0-sec-delay matching alone, performance on 0-sec-delay and simultaneous matching, presented in mixed DMTS, improved to between 70 and 90% correct. However, performance on delay conditions remained at chance level. All but 1 S failed to show signs of postoperative improvement on delay problems in the course of the final testing. Data suggest that the conditional property of the task was a critical factor in the initial drop in accuracy on all of the presented problems. The relatively permanent loss of accuracy on all delay conditions is attributed mainly to the temporal separation of sample and comparison stimuli. (27 ref) (PsycINFO Database Record (c) 2010 APA, all rights reserved)  相似文献   
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A large variety of cheeses exist in Brazil, reflecting historical and cultural aspects. Brazilian artisanal cheeses present differences in the processing, ripening time (when applied), type of milk used, texture, size, shape, color, moisture content, flavor, the use or not of starter cultures, among others. This review describes the main artisanal cheeses produced in Brazil, focusing on general and particular characteristics associated with their making process and geographical identity. Overall, the high variability of the physicochemical data and deficiency of information on sensorial properties of Brazilian artisanal cheeses were noticed. On the other hand, culture‐dependent methods were mostly used to expand the knowledge into the microbiology of these cheeses, whereas their microbial diversity has been recently discovered through the use of 16S rRNA gene sequencing‐based methods. The certification of a geographical indication for Brazilian artisanal cheeses may encompass an essential milestone for adding value to these products. Regardless of their significance in the diet, culture, and economy of producing regions, taken together, the reviewed literature discloses the need of insightful studies to generate scientific data to support the expansion of the market, while ensuring the protection of historic aspects related to the production of Brazilian artisanal cheeses.  相似文献   
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BACKGROUND: The in situ technique (IS) is used for characterising, screening and evaluating feedstuffs in ruminants. However, it is often not adapted to the particular characteristics of feeds (i.e. kinetics of starchy feeds with a standard framework used in forage). This may lead to potential biases in the final conclusions. In two successive experiments, we evaluated the degradative characteristics of conventional (CON) and unconventional (UNC) starchy feedstuffs (ING) and factors affecting their washable fractions (WF). The suitability of IS was then assessed. RESULTS: Two well‐defined ruminal fermentation patterns (CON and UNC) were observed. The WF and insoluble washable (ISWF) fractions were affected by ING, state of presentation [WAY, fresh (F) or pre‐dried (D)], particle size (PSI) and their interactions. The UNC and F feeds had greater WF and ISWF than CON and D, respectively. Increasing PSI linearly reduced WF and its proportion of ISWF. CONCLUSION: The PSI and WAY are critical factors to consider when designing experiments for the evaluation of starchy feedstuffs for ruminants using IS. It is still very risky to propose ‘standard’ parameters as this will always depend on the particular ING evaluated. Conducting pre‐evaluation tests before implementing each research protocol could help to refine the procedure. Copyright © 2009 Society of Chemical Industry  相似文献   
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