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The incidence of specific islet cell autoantibodies in patients with HNF1A-MODY and HNF4A-MODY
Urbanová, Jana ; Anděl, Michal (advisor) ; Štechová, Kateřina (referee) ; Bém, Robert (referee)
Islet cell autoantibodies are associated with autoimmune insulitis and belong to the diagnostic criteria of Type 1 diabetes mellitus. However, growing evidence suggests that autoantibodies are present in other types of diabetes. Here, we focus on the autoantibody incidence in Czech patients with maturity-onset diabetes of the young (MODY) and analyze their functional relevance in terms of diabetes onset and control. Autoantibodies against glutamic acid decarboxylase 65 (GADA) and protein tyrosine phosphatase islet antigen 2 (IA-2A) were measured in a cohort of 28 Czech patients with MODY (all confirmed by genetic testing). Selected clinical data were correlated to the status and kinetics of autoantibodies. One quarter of patients with MODY examined (7/28; 25%) was positive for GADA or IA-2A. GADA were more prevalent (7/7) than IA-2A (1/7). The incidence of autoantibodies did not correlate with human leukocyte antigen status, nor with particular mutation in MODY genes. The patients who were positive for the autoantibodies developed diabetes later than those who were autoantibody- negative, but had worse glycaemic control. Expression of autoantibodies decreased with any improvement of diabetes compensation. Only one patient did not correspond to the above and displayed signs of combined signs of MODY...
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The incidence of specific islet cell autoantibodies in patients with HNF1A-MODY and HNF4A-MODY
Urbanová, Jana ; Anděl, Michal (advisor) ; Štechová, Kateřina (referee) ; Bém, Robert (referee)
Islet cell autoantibodies are associated with autoimmune insulitis and belong to the diagnostic criteria of Type 1 diabetes mellitus. However, growing evidence suggests that autoantibodies are present in other types of diabetes. Here, we focus on the autoantibody incidence in Czech patients with maturity-onset diabetes of the young (MODY) and analyze their functional relevance in terms of diabetes onset and control. Autoantibodies against glutamic acid decarboxylase 65 (GADA) and protein tyrosine phosphatase islet antigen 2 (IA-2A) were measured in a cohort of 28 Czech patients with MODY (all confirmed by genetic testing). Selected clinical data were correlated to the status and kinetics of autoantibodies. One quarter of patients with MODY examined (7/28; 25%) was positive for GADA or IA-2A. GADA were more prevalent (7/7) than IA-2A (1/7). The incidence of autoantibodies did not correlate with human leukocyte antigen status, nor with particular mutation in MODY genes. The patients who were positive for the autoantibodies developed diabetes later than those who were autoantibody- negative, but had worse glycaemic control. Expression of autoantibodies decreased with any improvement of diabetes compensation. Only one patient did not correspond to the above and displayed signs of combined signs of MODY...
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Bone metabolism, infection and ischemia in diabetic foot syndrome
Bém, Robert ; Jirkovská, Alexandra (advisor) ; Štěpán, Jan (referee) ; Broulík, Petr (referee)
The diabetic foot (DF) is one of the most frequent late complications of diabetes, which often leads to limb amputation and effects the quality of life in patients with diabetes. Ischaemia and infection play important role in pathogenesis of DF. One form of DF is Charcot neuroosteoarthropathy (CNO), defined as a noninfectious destruction of bones and joints in the foot due to diabetic neuropathy. The subject of the dissertation thesis was divided into 3 parts: bone metabolism and CNO, ischaemia and infection in DF and new methods in the treatment of DF. (...) In the third study, new quantitative scintigraphic parameters for assessment of CNO activity were defined and confirmed their satisfactory correlation with other parameters of CNO activity. In fourth and fifth study,good reproducibility was verified and efficiency of power spectral analysis of heart rate variability as a new method for diagnosis of autonomic neuropathy in patients with CNO. Sixth study refered to rare causes of atypical localization of CNO in the knee joint. Ischaemia and infection in DF were resolved in one study. In multivariate analysis of seventh study we approved, that risk factors for difficulty healing after minor amputation of the foot were low level of transcutaneous oxygen tension and high level of C-reactive protein before...
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