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. Buccal smears were obtained from five children with Leigh syndrome including three children exhibiting a previously confirmed CIV deficiency in muscle and fibroblasts and two children who were clinical suspects for CIV deficiency; the smear samples were analysed using CI and CIV human protein quantity dipstick assay kits. Samples from five children of similar age and five adults were used as controls. Analysis of the controls demonstrated that only samples of buccal cells that were frozen for a maximum of 4 h after collection provide accurate results. All three patients with confirmed CIV deficiency due to mutations in the SURF1 gene exhibited significantly lower amounts of CIV than the similarly aged controls; significantly lower amounts were also observed in two new patients, for whom later molecular analysis also confirmed pathologic mutations in the SURF1 gene. We conclude that DIA is a simple, fast and sensitive method for the determination of CIV in buccal cells and is suitable for the screening of CIV deficiency in non-invasively obtained material from children who are suspected of having mitochondrial disease.

[Role of thyroid pathology in pathogenesis of arterial hypertension in diabetes]. / Rol' patologii shchitovidnoi zhelezy v patogeneze arterial'noi gipertonii u bol'nykh sakharnym diabetom.

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. Symptomatic renal AH is typical for DM1, essential AH combining with renal one in 1/3 of cases--for DM2. Treatment of AH and DM often provokes hypothyroidism which can be iatrogenic because of continuous intake of sugar reducing and antihypertensive drugs with antithyroid and strumogenic actions. Hypothyroidism aggravates an AH course: arterial pressure becomes high and resistant to hypotensive therapy. DM makes difficulties in selection of hypotensive drugs as many of them alter metabolism and due to negative attitude of the patients to continuous intake of sugar reducing, antihypertensive drugs, thyroid hormones. Therefore, hypertensive diabetics should be prepared for treatment psychologically and receive only prolonged hypotensive drugs. In DM with AH medication of choice is ACE inhibitors as they are nephroprotective, had no negative effect on carbohydrate, fat metabolism and thyroid system.

[The pathogenesis of the convulsion syndrome in children]. / K patogenezu sudorozhnogo sindroma u detei

The report contains some results of clinical, biochemical and EEG studies convened in 24 children with convulsive attacks and in 34 children with organic lesions of the CNS and epileptiform syndromes. The authors point out to the important role of the diencephalic area in the pathogenesis of convulsive syndromes. Changes in the glucocortical functions of the adrenal system during the period of convulsive attacks are related to a disturbed regulation in the hypothalamo-hypophysar structure. The processes of readaptation are more disturbed in patients with organic lesions of the CNS in frequent attacks. The results of such studies speak of certain indications to hormone therapy in repeated convulsions in children, especially if the convulsions have an epileptiform character and occur in patients with organic lesions of the CNS.