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Development of effective procedures for transplantation of insulin-producing tissue
Hladíková, Zuzana ; Saudek, František (advisor) ; Kvapil, Milan (referee) ; Průhová, Štěpánka (referee)
Our research has been focused on a new method of transplantation of islets of Langerhans into the greater omentum. Transplantation of pancreatic islets is an established treatment option for selected patients with unstable diabetes. The liver is almost exclusively used as a site for islet transplantation in the clinical setting. Unfortunately, immediately after graft implantation into the portal circulation, a substantial portion of the islets is lost and graft function in the liver may further deteriorate over time. The fate and location of islets implanted in the liver can only be followed with difficulty by radiological methods or biopsies. All these limitations have led to the search for alternative sites for transplantation. The greater omentum is easily surgically accessible, meets the demands of a high blood supply and can accommodate large volumes of transplanted tissue. However, the metabolic function of the islet graft itself in the omentum without fixation never achieved satisfactory long-term results in the experiment. Tissue engineering techniques have been used to improve graft attachment and maintain long-term function in the omentum. In our project, we transplanted islets into the rat omentum using a biocompatible gel consisting of recipient plasma and human thrombin....
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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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