Aim. To lead search of mutations by means of the SSCP-analysis in one of coding region of gene GJB2 at patients with sensorineural hearing loss and deafness.

Materials and methods. Exit and out-patient medical-genetic consulting clinic of 48 person from 37 unrelated families with the diagnosis sensorineural hearing loss III-IV of a degree. Search possible mutations in locus CX26AU of coding region gene GJB2 spent by means of the analysis of SSCP-Single Strand Conformation Polymorphism.

Results. According to the received data change of mobility of samples of DNA with various conformation polymorphisms are revealed: at 11 patients with nonsyndromic hearing loss and deafness (a mutation 35delG), at a patient with Waardenburg syndrome and in 1-st sample who has been used as the control (type of a mutation is not established). The general frequency of mutations on chromosomes of patients of gene GJB2 (locus CX26AU) has made – 0,244 (24, 4 %), that considerably below what in the European populations.

Conclusion. Most a major mutation in locus Cx26AU of gene GJB2 at patients with sensorineural hearing loss and deafness in RS (Y) is the mutation 35delG. It is possible to consider the reason of decrease in hearing established at 5 patients on which both chromosomes it has been revealed 35delG. In these families in the future the prenatal DNA-diagnostics is possibly to be held. Considering rather low frequency of mutations in locus CX26AU on chromosomes sick sensorineural hearing loss and deafness in Yakutia in comparison with the European regions the further researches of other loci of genes GJB2 and GJB3 by means of the SSCP-analysis and sequence samples of DNA with the found changes of mobility are necessary.

Purpose. Determination of genotype and allel rates, analysis of associations of polymorphisms eNOS VNTR, AT1R 1166FA/ C, ACE I/D, ApoE Arg158Cys, Cys112Arg, ApoB Xbal and EcoRI for determining risk of myocardial infarction process in Yakut population.

Methods. Allel and genotype rates of polymorphal types of cardiovascular disease (CVD) gene-candidates in Yakut population were studied by a method of polymer chain reaction and RFLP; analysis of associations with risk of myocardial infarction process in men of Yakut nationality was conducted.

Results. In the Yakut population we detected associations with risk of myocardial infarction process in such polymorphal locuses of CVD gene canidates (P<0.05) as: AT1R 1166FA/C, ApoB Xbal and EcoRI , eNOS VNTR. Distinctions between polymorphal locuses ApoE Arg158Cys, Cys112Arg, ACE I/D of control group and patients were observed at a level of tendency.

Conclusion. Associations of polymorphisms AT1R 1166FA/C, ApoB Xbal with myocardial infarction were detected in the Yakut population. Allel eNOS*A of polymorphism eNOS VNTR is noted as a marker of MI high risk.

Purpose. Detection of contemporary tendencies in physical development of preschool age children living in rural area of the Republic of Sakha (Yakutia).

Material and methods. We studied physical development of preschool age children from 7 settlements of Viluysky region, Viluysk city. 125 children from the rural area and 42 from the city, all of them aged 4-5 years underwent the study. The survey was conducted by a unified antropometric method (Bunak V.V., 1940).

Results. Of all children living in the setllements of Viluysky region 30.0% boys and 27.7% girls had one or more deviations in physical development. The amount of yakut children with physical deviations differs depending on age.

Conclusion. Tendencies in physical development of preschool age yakut children (aged 4-6 years) living in the rural area of Viluysky region have very negative character and on the whole accord to such other regions of Russia.

Purpose. Increase of surgical treatment efficacy in destructive cases of pulmonary tuberculesis by a method of temporal filling of extrapleural cavity after thoracoplasty.

Materials and methods. The survey comprised 44 patients with prevalent destructive lung tuberculesis who had undergone operation by the method elaborated. Causes of lower efficacy of the “standard” thoracoplasty by L. Bogush were determined.

Results. The method of temporal extrapleural filling (EPF) with concentrated polyglykine solution was elaborated for squeezing apex of the lung.

Conclusion. Efficacy of the method of extrapleural filling in destructive cases of the pulmonary tuberculesis is determined by reduction of negative aftereffects in standard thoracoplastic operation.

Purpose. Elaboration of intensive preoperative specific chemotherapy and determination of surgical treatment efficacy in patients with pulmonary tuberculesis with multiple drug resistance.

Material and methods. As a clinical material for the survey 65 patients with multiple-drug-resistant tuberculesis were selected, who had been operated in the pulmonary-surgical department of the Yakutsk Research Institute of tuberculesis from 2000 to 2003. Treatment efficacy was being determined when observing patients in the course of 2-3 years after the operation.

Results. In 76.6% cases the long-lasting chemotherapy promotes to MDR tuberculesis forming and efficacy of the operation depends direct proportionally on duration of the disease. In 23.1% patients with lower severity of MDR tuberculesis micobacterial tuberculesis (MBT) was a find being detected from the resected lung portion after operation. Surgical treatment efficacy of MDR tuberculesis is estimated at 83.0%, postoperative complications – 10.7%, postoperative activation of tuberculesis – 4.6%, lethality – 6.1%.

Conclusion. Initial patients with prevalent MDR tuberculesis are to be operated on when the phase “treatment prolongation” expires, i.e. in the late 5-6 months of chemotherapy, others with lower severity - in 2-4 months.

Purpose. To estimate diagnostic value of a cytologic component of mass prophylactic examinations for elaborating an oncologic risk group and, particularly, with uterine neck cancer based on data of YROD.

Materials. Materials containing results of cytologic studies during prophylactic examinations of 533.5 thousand subjects for 1985-2004 period were analysed by means of contemporary applied programmes.

Results. Within Yakutsk city uterine neck cancer was detected in 0.36 and dysplasia of 1^st and 2^nd stages in 7.85 ‰, all over the republic in 0.28 and 6.45 ‰ accordingly. Essential direct correlative relation was found between indices of UNC illnesses and dysplasia of 1^st and 2^nd stages (0.58) and UNC (0.41) detected in prophilactic examination for the 1985-1994 period.

Conclusion. Prophylactic survey with method of preliminary cytologic screening would be more acceptable in the northern conditions as well as foundation of the group comprising female patients with UNC of higher oncologic risk for cytologic screening a percentage of female population <18 years is the most important factor of treatment efficacy.