36 research outputs found

    Using Machine Learning Techniques to Enhance Expressiveness of Computer-based Design Systems

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    More and more designers use computers and netAbstract In face of the huge expansion of computer-mediated interaction among people, current representation-centered CAAD systems do not offer full information spectrum necessary to express all design intentions. Representational structures that those systems use suppress expression of affective information that plays a major role in design process. The paper describes few experiments conducted at the IMS Institute to enhance expressiveness of the CAAD systems.

    A Sketch of a Distributed Architectural Design System

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    The system is composed of design agents acting on the object-to-be-designed model. The system has no central control. Problem-solving is performed at the local level. The most important agents at present are: ARCH: A Generator, OYSTER: An Evaluator and PDP-AAM Interpreter, PDP-AAM: A Neural-Net-Based Evaluator and Generator

    From Number Cruncher to Digital Being: the Changing Role of Computer in CAAD

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    The paper reflects on a thirteen-year period of CAAD research and development by a small group of researchers and practitioners. Starting with simple algorithmic drafting programmes, the work transcended to expert systems and distributed artificial intelligence, using computers as tools. The research cycle is about to begin afresh, computers in the next century shall not be detached entities but the extensions of man. The computer shall be the medium that will enable a designer to be what he/she really is. This future has already begun

    Using Open Standards Based Building Information Modelling to Simulate Actual Design and Construction Processes

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    The paper describes pilot project conducted to achieve first understanding of the IFC standard and BIM process in Serbia. During the project a research team have developed information model of the actual building using IFC standard and BIM technology and used that model to simulate an actual construction processes. The experience from this project shows that BIM principles and the way IFC standard is incorporated in applications are still a set of recommendations that each software developer interprets separately. At the end of the paper a possibility of further development that would bring BIM and related ICT standards to expected functionality is discussed

    Regression of nodular liver lesions in Wilson's disease

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    WOS: 000240235700004PubMed ID: 16950693Long-term follow-up abdominal imaging studies have not been reported previously in patients with the hepatic form of Wilson's disease (WD). This paper reports the case of a 35-year-old woman with symptoms dating back several months and with multiple, nodular liver lesions. The lesions were hyperdense on non-enhanced computed tomography and hypointense on T2-weighted magnetic resonance (MR) images. A diagnosis of WD was established several weeks after her admission to hospital, and chelating treatment was commenced promptly. No abnormalities were found on follow-up MR examinations of the abdomen and brain 4.5 years later. These imaging features suggest that so long as WD is diagnosed in the initial stages, liver nodules can regress with time and complete healing can be achieved with continuous decoppering treatment

    Phenotypic expression and founder effect of PANK2 c.1583C > T (p.T528M) mutation in Serbian pantothenate kinase-associated neurodegeneration patients.

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    Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder characterized by dystonia, parkinsonism, cognitive and visual impairment, and iron accumulation in the brain. Many cases of PKAN result from mutations in the PANK2 gene that encodes pantothenate kinase 2, a key regulatory enzyme in the biosynthesis of coenzyme A. We previously detected six Serbian patients with clinically suggestive PKAN, all of whom had PANK2 c.1583C>T (p.T528M) mutation either in the homozygous or in the heterozygous state. In this study we explored the phenotypic expression and a possible founder effect of this substitution. We performed the analysis of linkage disequilibrium (LD) and organization in haplotypes of 23 single nucleotide polymorphisms (SNPs) adjacent to the PANK2 gene in all of the six patients and their parents, as well as in control healthy child-parents trios. The age of PANK2 c.1583C>T mutation was determined using the r(2) degeneration method. Clinical findings in our patients were markedly similar. Different LD structures between patients and controls is revealed, and PANK2 c.1583T allele was significantly associated with a particular haplotype. The age of PANK2 c.1583C>T mutation was estimated to be about 15 generations. Our results suggest that PANK2 c.1583C>T in Serbian PKAN patients represents a founder mutation descended from one common ancestor

    Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation.

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    Objective: Neurodegeneration with brain iron accumulation (NBIA) is a group of disorders characterized by magnetic resonance imaging (MRI) changes in basal ganglia. Both missense and nonsense mutations have been found in such patients in a gene encoding the mitochondrial pantothenate kinase (PANK2). Methods: We completed a mutation screen in 72 patients with the diagnosis NBIA based on clinical findings and radiological imaging. The entire coding region of the PANK2 gene (20p12.3) was investigated for point mutations and deletions. Results: We uncovered both mutant alleles in 48 patients. Deletions accounted for 4% of mutated alleles. Patients with two loss-of-function alleles (n = 11) displayed symptoms always at an early stage of life. In the presence of missense mutations (n = 37), the age of onset correlated with residual activity of the pantothenate kinase. Progression of disease measured by loss of ambulation was variable in both groups. We did not observe a strict correlation between the eye-of-the-tiger sign and PANK2 mutations. In 24 patients, no PANK2 mutation was identified. Interpretation: Deletion screening of PANK2 should be part of the diagnostic spectrum. Factors other than enzymatic residual activity are determining the course of disease. There are strong arguments in favor of locus heterogeneity. © 2006 American Neurological Association
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