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Methodology for design of information system architecture
Plachý, Lukáš ; Stepnik, Štefan (referee) ; Koch, Miloš (advisor)
The aim of this work is to propose such a methodology for designing of SW applications architecture that allows effortless, exact and systematical transformation of the real business process into a model suitable as an assignment for implementation by programmers. The aim of this proposal is such a methodology that would allow to reach the above mentioned goals on the basis of easy-to-understand and simple principles and that would be available either as a fundament for its usage within methodologies that are focused on the management of such projects, or as an alternative to methodologies that are much to expensive, complex and/or designed for very large development teams.
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Determining the genetic cause of short stature as a way to understand the pathophysiological mechanisms affecting human growth
Plachý, Lukáš ; Průhová, Štěpánka (advisor) ; Zapletalová, Jiřina (referee) ; Pomahačová, Renata (referee)
Determining the genetic cause of short stature as a way to understand the pathophysiological mechanisms affecting human growth Abstract Short stature is one of the most common disorders followed-up by a paediatric endocrinologist. Pathophysiologic mechanisms leading to growth disorders are complex, however, the exact cause is mostly unknown. Our study is the first to evaluate the aetiopathogenesis of familial short stature (FSS). Using next-generation sequencing (NGS) techniques, we aimed to describe the monogenic aetiology of growth impairment in a group of FSS families, and therefore to elucidate mechanisms leading to this specific growth disorder. In selected genetic diagnoses, we additionally aimed to describe the phenotype including GH treatment response. Within Motol University Hospital centre for GH therapy, we formed a group of 98 FSS families with clear height definition in ≤-2 SD in both the child height before GH therapy and in his shorter parent. Using NGS, the FSS aetiology was elucidated in 40/98 (41%) families; 32/40 had a genetic growth plate disorder. Within the cohort, three genetically homogeneous subgroups of families were described (collagenopathies - 10/98 [10.2%] families, SHOX deficiency - 6/98 [6.1%] families, and C type natriuretic peptide receptor disorder - 4/98 [4.1%] families)....
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Methodology for design of information system architecture
Plachý, Lukáš ; Stepnik, Štefan (referee) ; Koch, Miloš (advisor)
The aim of this work is to propose such a methodology for designing of SW applications architecture that allows effortless, exact and systematical transformation of the real business process into a model suitable as an assignment for implementation by programmers. The aim of this proposal is such a methodology that would allow to reach the above mentioned goals on the basis of easy-to-understand and simple principles and that would be available either as a fundament for its usage within methodologies that are focused on the management of such projects, or as an alternative to methodologies that are much to expensive, complex and/or designed for very large development teams.
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