[Molecular and genetic technologies for the diagnosis of monogenic forms of urinary stone disease: clinical cases].

Kidney stone disease (KSD) is an actual problem of modern health care. By now, more than 80 monogenic forms of urolithiasis have been described. To diagnose such forms of KSD different molecular genetic technologies are used. In the current article 5 clinical cases of KSD among the patients aged 1-9 years old are presented. All of them underwent comprehensive instrumental, clinical, laboratory and molecular genetic investigations. DNA analysis was carried out by Next Generation Sequencing method (NGS) (target NGS-panels and Whole Exome Sequencing). In all cases the molecular genetic cause of the disease was found - idiopathic infantile hypercalcemia type 1 (gene CYP24A1 - 3 cases) and cystinuria (gene SLC7A9 - 2 case). Several unknown genetic variants were found in CYP24A1 (c.1379G>T, c.1156A>T, c.1286T>C) and SLC7A9 (c.920T>A). The importance of genetic testing and the role of genetic counseling for patients with KSD were shown.

[Functional state of the hypothalamo-hypophyseal-thyroid system in euthyroid hyperplasia of the thyroid gland]. / Funktsional'noe sostoianie gipotalamo-gipofizarno-tireoidnoi sistemy pri éutireoidnoi giperplazii shchitovidnoi zhelezy.

Function of the hypothalamo-hypophyseal-thyroid system was investigated in 51 patients with euthyroid hyperplasia. Basal and TRH-stimulated levels of TSH and STH were investigated. Hyperergic ejection of STH and two pathological types of STH reaction (suggesting dysfunction of the hypothalamohypophyseal-thyroid system in euthyroid hyperplasia) were revealed. A group of patients with a low level of STH in response to TRH-stimulation demonstrated more pronounced changes of the hypothalamo-hypophyseal-thyroid system, characterized by a rise of a TSH level in response to stimulation up to 27.59 +/- 3.7 microU and a slightly reduced level of thyroid hormones. Changes in the level of STH indicated certain interest of growth hormone in the genesis of thyroid hyperplasia and could also serve an additional sign in the evaluation of a severity of disorders of the hypothalamo-hypophyseal-thyroid system.

[Screening of thyroid function proper by calculating the integral index based on data from in vitro radioimmunological testing]. / Skrining funktsii sobstvenno shchitovidnoi zhelezy posredstvom rascheta integral'nogo indeksa po dannym in vitro radioimmunologicheskogo testirovaniia.

A total of 1494 patients were investigated: 803--with the euthyroid state and extrathyroid (nonthyroid) pathology, 493--with primary hyperthyroidism and 101--with primary hypothyroidism; 93 healthy donors (61 women and 32 men) were entered into the control group. The thyroid integral index (II) was used for the assessment of the level of function of the thyroid proper. Normal II values ranged within 0.6-5 rel. units hypothyroidism values were within 0.6 and below this value, hyperthyroidism values--within 5 and above tris value. II calculation made it possible to divide (with 100% accuracy) the patients into 3 groups of the thyroid state: eu-, hypo- and hyperthyroidism. Euthyroidism values by the TSH level were within 1.7-9 mU/l.

[Radiography, ultrasonic diagnosis and radioimmunologic analysis in the differential diagnosis of diffuse goiter and thyroiditis]. / Radiografiia, ékhografiia i radioimmunologicheskii analiz v differentsial'noi diagnostike diffuznogo zoba i tireoiditov.

Radionuclide functional dynamic investigation of the thyroid with 99mTc-pertechnetate was performed in 62 patients with diffuse euthyroid and toxic goiter, thyroiditides and in 17 controls. An analysis of the results of investigations and their comparison with clinical findings, an echo- and scintigraphic picture of the thyroid as well as with the levels of total thyroxine, triidothyronine and thyrotropin of the hypophysis showed that the results of a dynamic test of pertechnetate trapping corresponded, to a large extent, to the clinical status of patients with diffuse thyroid changes, correlated with an echographic picture and made it possible to define significant radiodiagnostic signs of thyroiditides. The proposed methods made it possible to increase the volume and improve the quality of diagnostic information in functional investigations of the thyroid status raising the efficacy of diagnosis of thyroid diseases and reducing radiation exposures and the time of investigations.

[Systemic evaluation of thyroid function in women and men from radioimmunoassay data]. / Sistemnaia otsenka tireoidnoi funktsii u zhenshchin i muzhchin po dannym radioimmunotestirovaniia.

The author presents a new variant of the integral quantitative systemic evaluation of thyroid function. Its essence is as follows: the integral index of evaluation is based on the simultaneous registration of 3 thyroid indices TTH, T3 and T4. The proposed method makes it possible to unravel changes in thyroid function concealed by homeostasis in women depending on the menstruation phase and reflects in a summary form by means of one figure the entire activities of the hypophyseal-thyroid system.

[Regularity in the extreme character of the ontogenetic development of ovarian activity in the reproductive function self-regulation system]. / Zakonomernost' ékstremal'nogo kharaktera ontogeneticheskogo razvitiia deiatel'nosti iaichnikov v sisteme samoreguliatsii reproduktivnoi funktsii.

Opposite conclusions were drawn depending on the sex hormones which different authors used to assess the functional condition of the ovaries at various age periods. A new index--reception coefficient (RC)--is suggested proceeding from the systemic approach to find the way out from this inconsistency. This coefficient represents the ratio of the peripheral hormone value and the gonadotropin level inducing it. Regularities of the extreme character in the ontogenetic development of the ovarian activity were established by means of RC: the maximum ovarian function under normal conditions fell on the age group of 20--29 years, and the minimum--on the age groups of under 7 and over 50 years. A sharp decline of the ovarian function began in the age group of 40--49 years.