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  • 1
    Electronic Resource
    Electronic Resource
    Oxford, UK : Blackwell Science Ltd
    Pediatric anesthesia 8 (1998), S. 0 
    ISSN: 1460-9592
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Cornelia de Lange syndrome is a congenital disease characterized basically by psychomotor retardation associated with a series of malformations (mainly skeletal craniofacial deformities together with gastrointestinal and cardiac malformations). We present the case of a patient who underwent trauma surgery, discuss the anaesthetic problems involved and their relationship to the malformations that constitute this syndrome.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract. Myotonic dystrophy (DM) is a dominantly inherited neuromuscular disease, highly variable and multisystemic, which is caused by the expansion of a CTG repeat located in the 3´ untranslated region of the DMPK gene. Normal alleles show a copy number of 5–37 repeats on normal chromosomes, amplified to 50–3000 copies on DM chromosomes. The trinucleotide repeat shows a trimodal allele distribution in the majority of the examined population. The first class includes alleles carrying (CTG)5, the second class, alleles in the range 7–18 repeats, and the third class, alleles (CTG)≥ 19. The frequency of this third class is directly related to the prevalence of DM in different populations, suggesting that normal large-sized alleles predispose toward DM. We studied CTG repeat allele distribution and Alu insertion and/or deletion polymorphism at the myotonic dystrophy locus in two major Ethiopian populations, the Amhara and Oromo. CTG allele distribution and haplotype analysis on a total of 224 normal chromosomes showed significant differences between the two ethnic groups. These differences have a bearing on the out-of-Africa hypothesis for the origin of the DM mutation. In addition, (CTG)≥ 19 alleles were exclusively detected in the Amhara population, confirming the predisposing role of these alleles compared with the DM expansion-mutation.
    Type of Medium: Electronic Resource
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  • 3
    Electronic Resource
    Electronic Resource
    Chichester : Wiley-Blackwell
    International Journal for Numerical Methods in Fluids 28 (1998), S. 1073-1091 
    ISSN: 0271-2091
    Keywords: three-dimensional backward-facing step incompressible flow ; local average procedure ; multidimensional fluxes reconstruction ; vortex lines ; vortices identification ; Engineering ; Numerical Methods and Modeling
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Mechanical Engineering, Materials Science, Production Engineering, Mining and Metallurgy, Traffic Engineering, Precision Mechanics
    Notes: The study of the flow over a three-dimensional backward-facing step still provides interesting research when a new numerical method is developed and an investigation of the flow topology is performed. From a numerical point of view, accurate solutions are required, preferably with little computational effort, and the numerical results must lead to the understanding of the main features of the flow. The guidelines of an integrated framework are presented in this paper, starting with the description of the numerical methods for solving three-dimensional incompressible flows, based on a local-average procedure, up to the investigation of the flow structure by means of vortex lines reconstruction and vortices identification. Several results are reported concerning an analytical benchmark, simulation of flows in laminar and incipient transitional regimes and detection of vortical structures. Preliminary results for highly unsteady flows are also presented. © 1998 John Wiley & Sons, Ltd.
    Additional Material: 17 Ill.
    Type of Medium: Electronic Resource
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