Non-invasive screening of cytochrome c oxidase deficiency in children using a dipstick immunocapture assay.

Cytochrome c oxidase (CIV) deficiency is among the most common childhood mitochondrial disorders. The diagnosis of this deficiency is complex, and muscle biopsy is used as the gold standard of diagnosis. Our aim was to minimize the patient burden and to test the use of a dipstick immunocapture assay (DIA) to determine the amount of CIV in non-invasively obtained buccal epithelial cells.

Mitochondrial DNA haplogroups in the Czech population compared to other European countries.

The analysis of mtDNA haplogroup frequency in various populations is a tool for studying human history and population dynamics. The aim of this study is to map the frequency of major mtDNA haplogroups in 300 maternally unrelated individuals representing the Czech population of the central part of the Czech Republic. Eighteen polymorphic sites in the coding region of mtDNA were screened by PCR-RFLP to determine 11 mtDNA haplogroups and 5 subhaplogroups.

[Role of thyroid pathology in pathogenesis of arterial hypertension in diabetes].

190 patients with diabetes mellitus (DM) were examined: 24 patients with DM type 1 and 166 with DM type 2. Frequency of arterial hypertension (AH) in diabetics is higher than in population. AH in different DM types varies by pathogenesis.