[The genetic consequences of the Chernobyl accident. The monitoring of congenital developmental defects in newborn infants in Kaluga Province]. / Geneticheskie posledstviiia Chernobyl'skoi avarii. Monitoring vrozhdennykh porokov razvitiia novorozhdennykh v Kaluzhskoi oblasti.

The study concentrates on the genetic after-effects of the Chernobyl accident in some districts of Kaluga Province. The frequencies and range of congenital malformations, prematurely death-rate in the radionuclear polluted districts were compared with the control districts. Prematurely death-rate in compared regions is the same. The increase of the congenital malformation frequency is revealed in one the polluted districts (256/10,000) as compared with the control one (27/10,000). We assume that the observed effect is mainly connected with the professional activity of the population.

[Medico-genetic study of the population of Uzbekistan. III. Phenotypical assortativity as a factor in population structure (using palmoplantar hyperkeratosis and vitiligo as examples)]. / Mediko-geneticheskoe izuchenie naseleniia Uzbekistana. Soobshchenie III. Fenotipicheskaia assortativnost' kak faktor populiatsionnoi struktury (na primere ladonno-podoshvennogo giperkeratoza i vitiligo).

The article comprises the examples of homophenogamic marriages between persons with a rare hereditary dominant character, hand-palm and foot-sole hyperkeratosis, leading to the increase of inbreeding intensity in the population. On the contrary, homophenogamic marriages between persons with vitiligo, a considerably more widespread character, lead to the decrease of the degree of inbreeding in a population, since they take place between partners coming from different districts of the region.

[Rare variants of alpha 1-antitrypsin in families having neonates with deformities]. / Redkie varianty alpha 1-antitripsina v gruppe semei s narusheniem razvitiia u novorozhdennykh.

Alpha 1-antitrypsin rare variants' distribution in a group of 196 families with developmental malformations of newborns was investigated. Significantly increased frequencies of rare variants were noted in groups of probands and their mothers, as compared to the control groups. Preferential transmission of rare alleles from mothers to probands is demonstrated.

[Clinico-genetic aspects of the neurocutaneous syndrome]. / Kliniko-geneticheskie aspekty neirokutaneal'nogo sindroma.

Clinical studies of skin manifestations were accomplished in children with inborn and early organic lesions of the nervous system and in different age groups of normal children. A total of 1320 ill children were examined to reveal 234 with skin syndromes. Of this number, 228 children were examined clinically. 2932 children, including 300 newborns, 507 children of preschool age and 2125 schoolchildren were examined for control purposes. The frequency of skin manifestations in different groups of ill and normal children was analyzed.

[Clinical aspects of screening and diagnosis of congenital hypothyroidism in neonates in Moscow]. / Klinicheskie aspekty skrining-diagnostiki vrozhdennogo gipotireoza u novorozhdennykh Moskvy.

Screening of the newborns helped diagnose congenital hypothyrosis in infants of Moscow and define its incidence as 1 per 5000 newborns. Seventeen newborns (20%) with congenital hypothyrosis were detected among 65 ones with positive tests of more than 5 microU/ml. Clinical manifestations of this disease may be detected by specialists within the first weeks of life. Blood TTH level higher than 100 microU/ml is an evidence of congenital hypothyrosis, though one case with a lower TTH level in a newborn was detected. Levothyroxine therapy in a daily dose 50 micrograms is the optimal for the majority of such patients. For infants with transitory hypothyrosis with blood TTH levels from 40 to 80 micrograms/ml short levothyroxine therapy courses in daily doses 25-50 micrograms for 2-3 weeks may be recommended to preserve the intellectual potential of the child. All the children with blood TTH levels higher than 20 microU/ml should be regularly examined by endocrinologists and neuropathologists starting from the first days of life.