Genome-wide association of haplotype markers to gene expression levels.
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Biomedical subjects
Publications and source records attributed to R Judson.
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Single nucleotide polymorphisms (SNPs) and haplotypes are commonly used genetic markers in clinical studies. We provide some broad guidelines for deciding which of the two is most appropriate in particular circumstances. Molecular haplotyping techniques are also briefly reviewed and contrasted with electronic approaches.
A variety of approaches have been proposed to find genetic markers that can be used in a clinical setting. Single nucleotide polymorphisms (SNPs) are the basis of the most commonly used approaches. Here we describe an approach using gene-based haplotypes, which are collections of SNPs located throughout the ftinctional regions of candidate genes, and organised as they occur separately on an individual's two chromosomes. The main point of this review is that the haplotype has greater power than any individual SNP to track an unobsenrved, but evolutionarily linked, variable site.
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No matter how trivial a burn injury may appear, to the sufferer it is associated with pain and disability disproportionate to its size. Unless appropriately managed, even minor burns may become infected leading to a progression of local tissue damage and spreading cellulitis, with risks of septicaemia. Infection of the burn will not only delay healing but may produce significant local scarring with marked functional and cosmetic consequences. The management of any burn injury should provide: relief of the distressing symptoms; and the optimum environment for the healing of the damaged tissue. Formulation of this plan follows accurate assessment of the extent of the injury and an understanding of the processes of wound healing.
A method is described for folding polymers to specific target conformations. The approach uses a fast but approximate dynamics algorithm, coupled with a genetic algorithm that is used to evolve the large number of free parameters needed. The dynamics algorithm uses a state transition matrix approach. At each time step, the distances between pairs of atoms are adjusted by shifting them from Dij to Dij + Sij where Sij is an element of the state transition matrix S. Atom pairs that are attractive have Sij < 0 and pairs that are repulsive have S ij > 0. The atomic movement is carried out by gradient minimizing the molecular mechanics energy of the molecule subject to harmonic distance constraints. The method is applied to a simple test case, a 19 atom 2-D polymer. The paper also show that the S matrices can correctly fold a limited variety of initial conformations that differ from the one used during the evolution phase.
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Branchial cleft cysts were previously thought not to occur in the thyroid but have recently been described in two patients with Hashimoto's disease. This case report describes a patient with a branchial cleft cyst in an otherwise normal thyroid gland and could provide further evidence that thyroidal follicular cells are derived from the branchial clefts as well as from the primitive gut.
The minimal inhibitory concentrations of 39 antimicrobial agents for 54 isolates of Corynebacterium pseudotuberculosis in vitro have been determined. The most active agents were penicillins, macrolides, tetracyclines, cephalosporins, lincomycin, chloramphenicol, and rifampicin. Most isolates were resistant to aminoglycosides, nitrofurans, polymyxins, nalidixic acid, and cycloheximide.
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The management problems of 22 patients with solitary liver abscess are reviewed. To achieve earlier diagnosis, and reduce the high mortality rate of this condition (32% in this series), clinicians need to change their data base of the clinical presentation and also to incorporate liver imaging as part of the routine investigation of a patient with pyrexia of uncertain origin. The problems associated with operative diagnosis, and with methods of surgical drainage are discussed. The need for careful bacteriological cultures is emphasized, and the use of the most appropriate antibiotics is described. While in many cases the cause of the liver abscess remains unknown, in Australia the possibility of the abscess being amoebic or an infected hydatid cyst should be kept in mind.
An isolated benign duodenal wall gastrinoma is reported. The place of conservative gastrinoma excision versus total gastrectomy is briefly discussed in the light of present knowledge and recent advances in management.