53 research outputs found

    Review of genetic factors in intestinal malrotation

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    Intestinal malrotation is well covered in the surgical literature from the point of view of operative management, but few reviews to date have attempted to provide a comprehensive examination of the topic from the point of view of aetiology, in particular genetic aetiology. Following a brief overview of molecular embryology of midgut rotation, we present in this article instances of and case reports and case series of intestinal malrotation in which a genetic aetiology is likely. Autosomal dominant, autosomal recessive, X-linked and chromosomal forms of the disorder are represented. Most occur in syndromic form, that is to say, in association with other malformations. In many instances, recognition of a specific syndrome is possible, one of several examples discussed being the recently described association of intestinal malrotation with alveolar capillary dysplasia, due to mutations in the forkhead box transcription factor FOXF1. New advances in sequencing technology mean that the identification of the genes mutated in these disorders is more accessible than ever, and paediatric surgeons are encouraged to refer to their colleagues in clinical genetics where a genetic aetiology seems likely

    Bacteriophage-encoded depolymerases: their diversity and biotechnological applications

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    Bacteriophages (phages), natural enemies of bacteria, can encode enzymes able to degrade polymeric substances. These substances can be found in the bacterial cell surface, such as polysaccharides, or are produced by bacteria when they are living in biofilm communities, the most common bacterial lifestyle. Consequently, phages with depolymerase activity have a facilitated access to the host receptors, by degrading the capsular polysaccharides, and are believed to have a better performance against bacterial biofilms, since the degradation of extracellular polymeric substances by depolymerases might facilitate the access of phages to the cells within different biofilm layers. Since the diversity of phage depolymerases is not yet fully explored, this is the first review gathering information about all the depolymerases encoded by fully sequenced phages. Overall, in this study, 160 putative depolymerases, including sialidases, levanases, xylosidases, dextranases, hyaluronidases, peptidases as well as pectate/pectin lyases, were found in 143 phages (43 Myoviridae, 47 Siphoviridae, 37 Podoviridae, and 16 unclassified) infecting 24 genera of bacteria. We further provide information about the main applications of phage depolymerases, which can comprise areas as diverse as medical, chemical, or food-processing industry.DPP acknowledges the financial support from the Portuguese Foundation for Science and Technology (FCT) through the grant SFRH/BD/76440/2011. SS is an FCT investigator (IF/01413/2013). The authors also thank FCT for the Strategic Project of the UID/BIO/04469/2013 unit, FCT and European Union funds (FEDER/COMPETE) for the project RECI/BBB-EBI/0179/2012 (FCOMP-01-0124-FEDER027462)

    A Massive Intratumoral Aneurysmal Vessel in a Retroperitoneal Lipoblastoma

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    Effect of width of geosynthetic reinforcement within the granular cover on the load distribution over the tunnel lining

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    A realistic estimation of load distribution over the buried structures is necessary for proper analysis of tunnels, culverts and pipes/conduits. Tunnels with linings are often constructed in transportation and hydraulic engineering. For the design of tunnel lining, it is essential to know the load over the lining. Load distribution over the buried structures has been investigated scientifically during the past several decades. The method of investigation includes experimental, numerical and analytical methods. The finite-element models based on some commercial software have been developed for load analyses for design of the tunnel linings and buried structures. The geosynthetic is an effective reinforcement layer to reduce the load over the buried structure. Although some studies have indicated that the geosynthetic layer can reduce the load over the buried structure, but no attempt has been made to determine the optimal width of the geosynthetic reinforcement within the granular cover. Therefore, in this paper, an attempt is made to present effect of width of geosynthetic layer on the load distribution over the tunnel lining. The study has been carried out by developing a numerical model of the problem. The commercial software PLAXIS 2D has been used for numerical modelling. The results have been presented in the form of design charts, mentioning the optimum width of geosynthetic layer, so that they can be used by practising engineers
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