Prevalence of ECG changes in an unorganized population of Novosibirsk

The paper is concerned with the data on the prevalence of various ECG changes in an open male and female population (aged 25 to 64) in Novosibirsk obtained on examination of a random representative sample. The analysis permitted defining groups of persons with prognostically unfavorable ECG changes serving as a basis for further study of regularities of their appearance.     

Comparison of the results of provocation electrocardiographic tests with the questionnaire for detection of exertion-induced stenocardia (data of the epidemiological study)

The results of a combination of functional electrocardiographic tests were compared with those of a WHO questionnaire for angina of effort. Coronary disease was verified in 37% of patients with a double diagnosis of angina of effort, and in 100% of cases of angina of effort combined with ischemic electrocardiographic changes.     

Surgery of giant gliomas of chiasma and IIIrd ventricle

Summary During a period of 17 years (from 1976 till now) 45 patients with giant gliomas of the chiasma and the IIIrd ventricle out of a total amount of 120 patients with hypothalamic gliomas were operated. The following classification of tumours was used: I) tumours with predominant anterior growth; II) tumours which infiltrate chiasma and penetrate into the IIIrd ventricle; III) gliomas of the floor of the IIIrd ventricle and the chiasma, growing into the ventricle cavity; IV) tumours of the chiasma, optic tract and thalamus. The authors come to the conclusion, that surgical removal of giant tumours of the chiasma and the IIIrd ventricle, though risky, may result in an improvement or stabilisation of visual functions (77%) and a long period free from recurrencies (9.5%). The postoperative period is relatively favourable and the mortality is low (6%). The main contraindication in our opinion is a wide infiltration of adjacent brain structures by the tumour and spreading along both optical tracts. We consider the giant size of a tumour in itself a sufficient indication for surgery.     

Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations

It has previously been shown that, in the heterozygous state, mutations in the SOX9 gene cause campomelic dysplasia (CD) and the often associated autosomal XY sex reversal. In 12 CD patients, 10 novel mutations and one recurrent mutation were characterized in one SOX9 allele each, and in one case, no mutation was found. Four missense mutations are all located within the high mobility group (HMG) domain. They either reduce or abolish the DNA-binding ability of the mutant SOX9 proteins. Among the five nonsense and three frameshift mutations identified, two leave the C-terminal transactivation (TA) domain encompassing residues 402-509 of SOX9 partly or almost completely intact. When tested in cell transfection experiments, the recurrent nonsense mutation Y440X, found in two patients who survived for four and more than 9 years, respectively, exhibits some residual transactivation ability. In contrast, a frameshift mutation extending the protein by 70 residues at codon 507, found in a patient who died shortly after birth, showed no transactivation. This is apparently due to instability of the mutant SOX9 protein as demonstrated by Western blotting. Amino acid substitutions and nonsense mutations are found in patients with and without XY sex reversal, indicating that sex reversal in CD is subject to variable penetrance. Finally, none of 18 female patients with XY gonadal dysgenesis (Swyer syndrome) showed an altered SOX9 banding pattern in SSCP assays, providing evidence that SOX9 mutations do not usually result in XY sex reversal without skeletal malformations.      

Middle molecule compounds of the plasma in heart surgery patients in operations with artificial circulation and blood ultrafiltration

Venous plasma middle molecule compounds (MMC) were determined in 63 cardiosurgical patients, operated on for acquired heart diseases or coronary disease, with assisted circulation (AC) and with or without blood ultrafiltration (BUF). Intraoperative MMC level was superior to that of normal donors, and tended to decrease during AC, while BUF had basically no effect on MMC content, in spite of the latter's withdrawal with the ultrafiltrate.