126 research outputs found
Focus Issue on Legacy Information Systems and Business Process Change: Banking on the Old technology: Understanding the Organisational Context of \u27Legacy\u27 Issues
A common thread in recent discussions of organisational change is the importance of the role allocated to information technology in the realisation of such change. It is a feature of many of these discussions that IT is handled in a somewhat simplistic fashion, often with a pronounced theoretical leaning resulting in the case of the disappearing technology . Even empirical studies of new technology often fail to pay attention to the actual details of technology in use, instead focusing upon the part technology might play in producing certain managerial or workplace configurations that are themselves theoretical renderings of organisational life. By way of contrast, this paper presents some results from a long-term empirical investigation of computer systems in use in financial services that specifically aims to focus upon the actual details of technology in use. In addition it attempts to address conventional concerns with the relationship between new technology and \u27skill\u27, productivity and other factors in a rather different fashion by focusing on the issue of \u27legacy\u27. We present a number of examples of legacy issues and try to delineate their impact on everyday working life. \u27Legacy\u27, we argue, is not just a problem encountered by organisations with aging mainframes and dated software, it is an issue from the moment a computer system becomes an integral part of any organisation\u27s everyday work
Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients
Mohr-Tranebjærg syndrome is an X-linked syndrome characterized by sensorineural hearing impairment in childhood, followed by progressive neurodegeneration leading to a broad phenotypic spectrum. Genetically MTS is caused by pathogenic variants in the TIMM8A gene, including gene deletions and larger contiguous gene deletions. Some of the latter involve the neighboring gene BTK, resulting in agammaglobulinemia. By next-generation mate-pair sequencing we have mapped the chromosomal deletion breakpoints of one MTS case and three XLA-MTS cases and used breakpoint-spanning PCR to fine map the breakpoints by Sanger sequencing. Two of the XLA-MTS cases presented with large deletions (63.5 and 27.2 kb), and the junctional regions were characterized by long stretches of microhomology, indicating that the events have emerged through homologous recombination. Conversely, the MTS case exhibited a small 2 bp region of microhomology, and the regions were not characterized by extensive microhomology. The third XLA-MTS case had a more complex breakpoint, including a 59 bp inverted insertion, thus at least four breakpoints were involved in this event. In conclusion, mate-pair library generation combined with next-generation sequencing is an efficient method for breakpoint identification, also in regions characterized by repetitive elements
The cell wall of Arabidopsis thaliana influences actin network dynamics
In plant cells, molecular connections link the cell wall–plasma membrane–actin cytoskeleton to form a continuum. It is hypothesized that the cell wall provides stable anchor points around which the actin cytoskeleton remodels. Here we use live cell imaging of fluorescently labelled marker proteins to quantify the organization and dynamics of the actin cytoskeleton and to determine the impact of disrupting connections within the continuum. Labelling of the actin cytoskeleton with green fluorescent protein (GFP)–fimbrin actin-binding domain 2 (FABD2) resulted in a network composed of fine filaments and thicker bundles that appeared as a highly dynamic remodelling meshwork. This differed substantially from the GFP–Lifeact-labelled network that appeared much more sparse with thick bundles that underwent ‘simple movement’, in which the bundles slightly change position, but in such a manner that the structure of the network was not substantially altered during the time of observation. Label-dependent differences in actin network morphology and remodelling necessitated development of two new image analysis techniques. The first of these, ‘pairwise image subtraction’, was applied to measurement of the more rapidly remodelling actin network labelled with GFP–FABD2, while the second, ‘cumulative fluorescence intensity’, was used to measure bulk remodelling of the actin cytoskeleton when labelled with GFP–Lifeact. In each case, these analysis techniques show that the actin cytoskeleton has a decreased rate of bulk remodelling when the cell wall–plasma membrane–actin continuum is disrupted either by plasmolysis or with isoxaben, a drug that specifically inhibits cellulose deposition. Changes in the rate of actin remodelling also affect its functionality, as observed by alteration in Golgi body motility
Molecular genetic analysis of the 3p — syndrome
Molecular genetic analysis of five cases of 3p-syndrome (del(3)(qter-p25:)) was performed to investigate the relationship between the molecular pathology and clinical phenotype. Fluorescence in situ hybridization studies and analysis of polymorphic DNA markers from chromosome 3p25-p26 demonstrated that all four informative cases had distal deletions. However, the extent of the deletion was variable: in two patients with the most extensive deletions the deletion breakpoint mapped between RAF1 and D3S1250, in one patient the deletion breakpoint was between D3S1250 and D3S601, and in two patients the deletion commenced telomeric to D3S601 (and telomeric to D3S1317 in one of these). All five patients displayed the classical features of 3p- syndrome (mental retardation, growth retardation, microcephaly, ptosis and micrognathia) demonstrating that loss of sequences centromeric to D3S1317 is not required for expression of the characteristic 3p- syndrome phenotype. The three patients with the most extensive deletions had cardiac septal defects suggesting that a gene involved in normal cardiac development is contained in the interval D3S1250 and D3S18. The PMCA2 gene is contained within this region and deletion of this gene may cause congenital heart defects. At least three patients were deleted for the von Hippel - Lindau (VHL) disease gene although none had yet developed evidence of VHL disease. We conclude that molecular analysis of 3p- syndrome patients enhances the management of affected patients by identifying those at risk for VHL disease, and can be used to elucidate the critical regions for the 3p- syndrome phenotyp
Focal segmental glomerulosclerosis, Coats’-like retinopathy, sensorineural deafness and chromosome 4 duplication: a new association
We describe the novel association in a girl of nephrotic syndrome due to focal segmental glomerulosclerosis, bilateral sensorineural deafness, basal ganglia calcification, bilateral retinopathy similar to that seen in Coats’ disease, with de novo duplication of a subtelomeric region of chromosome 4q35. The chromosomal duplication was identified during investigation of a possible association with features of fascio-scapulo-humeral dystrophy (FSHD). This duplication has not previously been reported with FSGS and adds to the expanding number of genetic associations with steroid-resistant nephrotic syndrome
An artificial intelligence tool for heterogeneous team formation in the classroom
Nowadays, there is increasing interest in the development of teamwork skills
in the educational context. This growing interest is motivated by its
pedagogical effectiveness and the fact that, in labour contexts, enterprises
organize their employees in teams to carry out complex projects. Despite its
crucial importance in the classroom and industry, there is a lack of support
for the team formation process. Not only do many factors influence team
performance, but the problem becomes exponentially costly if teams are to be
optimized. In this article, we propose a tool whose aim it is to cover such a
gap. It combines artificial intelligence techniques such as coalition structure
generation, Bayesian learning, and Belbin's role theory to facilitate the
generation of working groups in an educational context. This tool improves
current state of the art proposals in three ways: i) it takes into account the
feedback of other teammates in order to establish the most predominant role of
a student instead of self-perception questionnaires; ii) it handles uncertainty
with regard to each student's predominant team role; iii) it is iterative since
it considers information from several interactions in order to improve the
estimation of role assignments. We tested the performance of the proposed tool
in an experiment involving students that took part in three different team
activities. The experiments suggest that the proposed tool is able to improve
different teamwork aspects such as team dynamics and student satisfaction
Mosaic structural variation in children with developmental disorders
Delineating the genetic causes of developmental disorders is an area of active investigation. Mosaic structural abnormalities, defined as copy number or loss of heterozygosity events that are large and present in only a subset of cells, have been detected in 0.2–1.0% of children ascertained for clinical genetic testing. However, the frequency among healthy children in the community is not well characterized, which, if known, could inform better interpretation of the pathogenic burden of this mutational category in children with developmental disorders. In a case–control analysis, we compared the rate of large-scale mosaicism between 1303 children with developmental disorders and 5094 children lacking developmental disorders, using an analytical pipeline we developed, and identified a substantial enrichment in cases (odds ratio = 39.4, P-value 1.073e − 6). A meta-analysis that included frequency estimates among an additional 7000 children with congenital diseases yielded an even stronger statistical enrichment (P-value 1.784e − 11). In addition, to maximize the detection of low-clonality events in probands, we applied a trio-based mosaic detection algorithm, which detected two additional events in probands, including an individual with genome-wide suspected chimerism. In total, we detected 12 structural mosaic abnormalities among 1303 children (0.9%). Given the burden of mosaicism detected in cases, we suspected that many of the events detected in probands were pathogenic. Scrutiny of the genotypic–phenotypic relationship of each detected variant assessed that the majority of events are very likely pathogenic. This work quantifies the burden of structural mosaicism as a cause of developmental disorders
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