Studying the association of polymorphic variants of GSTM1 and GSTT1 genes with breast cancer in female residents of Altai Krai.

The incidence of homozygote deletion of glutathione S-transferase genes M1 and T1 (null genotypes; or GSTM1"-" and GSTT1"-") was studied in breast cancer patients living in Altai Krai. DNA was isolated from blood samples of 695 breast cancer patients (291 patients with familial cancer and 404 patients with sporadic cancer) and 263 women without history of tumor diseases. The frequency of GSTM1"-" and GSTT1"-" genotypes was estimated in breast cancer patients (47.2 and 19.1%, respectively) and non-cancer participants (46.8 and 19.0%, respectively). No differences were found in the frequency of genotypes. The frequency of genotype combination GSTM1"-"+GSTT1"-" in patients with sporadic breast cancer (11.6%, 47 of 404 patients) was higher than in the control (6.1%, 16 of 263 patients; OR=2.03; 95% CI=2.09-3.83; p=0.02). The genotype frequency of genes in the control group did not differ from that in European residents of the Caucasian race.

Associations of polymorphic variant of MnSOD gene with breast cancer in residents of the Altai Region.

he incidence of MnSOD genotypes in residents of the Altai Region suffering from breast cancer and individuals without a history of cancer corresponded to the Hardy-Weinberg equilibrium. No association of MnSOD with the incidence of sporadic breast cancer was detected. No association of MnSOD, tobacco smoking, or menopausal status, on the one hand, and breast cancer development, on the other, was detected.

[Rhesus factor distribution in the families of hypophyseal nanism patients]. / Raspredelenie rezus-faktora v sem'iakh bol'nykh gipofizarnym manizmom.

The author examined 211 members of 57 families with a genetic (familial) and idiopathic (sporadic) hypophysial nanism of obscure genesis. Rh-negative blood or weakened varieties of the Rh-antigen were revealed in 71 of 211 persons (33.1%), in 44 of 57 families (77.2%). Heterozygotic character of the majority of the positive parents of the sick children, by the Rh-factor, is undoubtful. Analysis of the Rh-factor distribution and of the antigens of the ABO system in the families suffering from hypophysial nanism permitted to exclude the significance of the hematological conflict by these antigens between the mother and the fetus, as a determining factor. It is supposed that there is a possible pathogenetic association between the hypophysial nanism and the absence of the Rh-antigen which is inherited also as an autosomic-recessive sign.

[Assessment of the somatotropic function of the hypophysis in patients with hypophyseal nanism and gonadal dysgenesis by using the insulin-tolerance and arginine-tolerance tests]. / Otsenka somatotropnoi funktsii gipofiza u bol'nykh s gipofizarnym nanizmom i disgeneziei gonad pri pomoshchi insulin-tolerantnogo i arginin-tolerantnogo testov

With the aid of insulin-tolerance and arginine tolerance tests (ITT and ATT, respectively) somatotropic function of the hypophysis was assessed in 18 patients with hypophyseal nanism and in 12--with gonad dysgenesis. A marked delay in development and a premature exhaustion of the STH secretion was noted in the patients wiht hypophyseal nanism. In patients with gonad dysgenesis the STH secretion was somewhat redeced during the ITT. A change in the STH secretion was accompanied by a parallel depression of insulin secretion during the ATT. Patients with hypophyseal nanism displayed a correlation between the extent of growth delay and the value of the STH secretion during the ITT (R=0.6, P smaller than 0.05).

[Clinico-electroencephalographic study of familial (genetic) forms of nanism]. / Kliniko-elektroentsefalograficheskoe issledovanie semeinykh (geneticheskikh form karlikovosti

Genetic nanism is a widespread phenomenon. Only familial forms constituted 22.8% of the cases of hypophysial and cerebral nanism. A total of 32 patients belonging to 15 families with repeated cases of the disease were examined clinically and electroencephalographically. In genetic hypophysial nanism clinical peculiarities of the disease and the EEG indices were similar within the limits of the same family and showed distinct differences in the patients belonging to different families. The differences are determined chiefly by the level of sex maturation. The EEG in genetic hypophysial nanism was identical to that in the total group of patients with the hypophysial nanism without any organic cerebral pathology. The EEG of the sexually immature patients suffering from nanism was characterized by the immaturity features both in the prepubertal period and in the course of the whole following life, whereas in the patients with a spontaneous sexual development the EEG corresponded to the age criteria at any age. The EEG examination of the patients with hypophysial nanism at the prepubertal period permits to prognosticate their subsequent sexual development.

[The sex steroid content of the blood serum in women suffering from postmenopausal osteoporosis]. / Soderzhanie polovykh steroidov v syvorotke krovi zhenshchin, stradaiushchikh postmenopauzal'nym osteoporozom.

The levels of estradiol, estrone, androstendione, and testosterone were investigated in 25 women aged 56-69 with postmenopausal osteoporosis and in healthy women using radioimmunoassays. Relatively high levels of estradiol, estrone and androstendione were revealed in the study group as compared to the control group. The results obtained showed no association between the development of postmenopausal osteoporosis and deficiency of estrogens because in the healthy controls a decrease in the level of sex hormones was more noticeable. Taking into account the mechanism of the effect of estrogens on osseous tissue and its receptors, calcitonin secretion and, possibly, vitamin D3 synthesis, one can regard a relative elevation of the level of estrogens in postmenopausal osteoporosis as a compensatory protective phenomenon.

[Pathogenesis of functional retardation of physical and sexual development in adolescents. Status of somatotropic and gonadotropic function]. / K patogenezu funktsional'noi zaderzhki fizicheskogo i polovogo razvitiia u podrostkov. Sostoianie somatotropnoi i gonadotropnoi funktsii.

A study of somatotropic and gonadotropic functions in male adolescents with functional retardation of physical and sexual development has shown an important role of the deficiency of gonadotropins, especially FSH, in the pathogenesis of this condition. LH secretion in retarded physical development (RPD) is lowered to a lesser degree and positively correlates with testosterone deficiency. The feedback in the hypothalamohypophyseogonadal function in RPD is less frequently affected and to a lesser degree than gonadotropic functions. Of the tested methods (tests with TRH, L-DOPA and bromocriptine) STH reserves are better revealed with L-DOPA and TRH tests, gonadotropic reserves, especially LH,--with TRH and bromocriptine tests. The stimulating TRH effect on the growth hormone is indicative of the versatility and nonspecificity of its action on the pituitary gland in functional developmental disorders.

[Pseudohypoparathyroidism. Clinical characteristics and experience with its treatment with vitamin D 3 preparations]. / Psevdogipoparatireoz. Klinicheskie osobennosti i opyt lecheniia preparatami vitamina D3.

The paper is concerned with the literature data on pathogenesis and a clinical course of 2 types of PHPT. Clinicolaboratory findings show that PHPT is a polymorphous syndrome of which the most common signs are skeletal changes, low stature, the tetanoid syndrome in hypocalcemia, hyperphosphatemia, the normal or raised level of endogenous PTH, insensitivity to exogenous PTH, soft tissue and brain calcification, mental deficiency. An insufficient or paradoxical PTH reaction and an adequate CT reaction are noted after calcium drug loading. Therapy with I alpha OH D3 and I alpha, 25/OH2 D3 has demonstrated its superiority over other vitamin D forms leading to fast normalization of calcium-phosphoric metabolism and elimination of the tetanoid syndrome.

[The Shereshevskii--Turner syndrome in monozygotic twins]. / Sindrom Shereshevskogo--Ternera u monozigotnykh bliznetsov

The authors present data on the clinico-cytogenetic, roentgenological, hormonal and anthropometric examination of monozygotic twins with the Shereshevsky-Turner syndrome. Mosaicism (45,X/46,XX) was revealed in both sisters, but the correlation of normal and anomalous cellular clones proved to differ. There was a great similarity between the twins, the size of their body, signs of dermatogliphics and odontology; however somatic features of the Shereshevsky-Turner syndrome and sexual insufficiency with a more pronounced increase in gonadotropins and phenomena of the CNS irritation were revealed in the patient with the prevalence of anomalous 45,X clone.