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Two PDE4D gene polymorphisms [SNP41 (rs152312 and SNP87 (rs 2910829)] were studied in patients with acute stroke (n = 577) and in control sample (n = 270). Significant differences in the genotype and allele frequency distribution were found between these samples for polymorphism SNP41. We showed that the AA and AG genotypes of SNP41 polymorphism were associated with higher risk of acute stroke development in the Moscow population (OR = 1.6). No association of SNP87 polymorphism with the disease was observed.

Tuberculosis (TB) is one of the most important concerns of public health. There is evidence suggesting that genetic status is responsible for predisposition to infectious diseases including TB. To determine genetic risk factors of TB development, the frequencies of polymorphisms of genes CYP1A1, CYP2D6, CYP2C9, CYP2C 19, GSTT1, GSTM1, NAT2, MDR1, and NRAMP1 in 73 TB patients and 352 healthy individuals were determined by allele-specific hybridization using microarray technology. The TB patients have shown a significant increase in the frequency of the null GSTT1 genotype (OR = 3.26, 95% CI = 1.91 - 5.55, p = = 0.000028) as well as the double null GSTT1/GSTM1 genotype (OR = 4.05, 95% CI = 2.14 -7.65, p = = 0.000034) compared to the group of healthy donors. It was shown that the NAT2*5/*5 genotype in combination with the "null" GSTT1 and the double "null" GSTT1/GSTM1 genotypes was observed significantly more often in the TB patients than in the control sample. Thus the examined GSTT1, GSTM1 and NAT2 gene polymorphisms may potentially alter the risk of TB development in ethnic Russians and are of interest for further research using larger cohorts of patients.

The influence of weather factors (atmospheric pressure and temperature) and the geomagnetic activity on the development of severe cardiological pathologies has been studied using the daily data from two Moscow clinics, accumulated over a period of 12 and 7 years. It was shown that the most biotropic factors are variations of atmospheric temperature. The relative contribution of the geomagnetic activity to the development of diseases is only 20%; however, its action is combined with the effect of ordinary weather because both these factors affect the vascular tonus of humans.

Analysis of long-term data on the infection rated of the taxonomic complex Borrelia burgdorferi s. l. in Ixodes persulcatus and I. ricinus from Moscow Region is carried out. More than 14 000 tick specimens were examined by dark-field microscopy and 704 specimens were investigated by PCR. Two borrelia genospicies, B. afzelii (6.3%) and B. garinii (20%) proved the most prevalent. The genospecies could form a mixtinfection (11%). Borrelia miyamotoi, B. valaisiana, and B. burgdorferi s. s. were also found in the studied territory, with the total ratio lesser than 6%. Acarotropism of Borrelia proved 2.4 times higher with respect to I. persulcatus, than to I. ricinus. Average long-term infection rates of these tick species were 27.3 and 11.3% respectively. Spatial variability of the infection rate in ticks significantly exceeds interannual fluctuations with the variation coefficients 66 and 26% respectively.

Chemokine receptors have recently been shown to mediate HIV-1 entry into cells. The chemokine receptor CCR5 plays a key role in this process. A 32-bp deletion within the coding region of the CCR5 gene generates a truncated nonfunctional receptor. In HIV-1-infected individuals homozygous for this mutation, disease progression is inhibited. We analyzed the frequencies of the deletion in HIV-1-infected seropositive individuals. No significant differences in allelic frequencies of the CCR5 gene between the control and general HIV-1-infected cohorts and within the latter group between the infected individuals and patients with AIDS symptoms were revealed.

Earlier, the distribution of bronchial asthma (BA) morbidity with respect to the age of onset (AO) in the Moscow population was found to be bimodal. The distribution had two peaks (before and after 25 years of age) and a significant (P < 0.001) minimum between them. Based on these data, genetic heterogeneity of BA with respect to AO was hypothesized. The purpose of this study was to test this hypothesis via analysis of BA morbidity in families of probands with different AOs. The BA morbidity at different ages and the total recurrent risk of BA were estimated in 1518 relatives of 815 BA probands registered in several district outpatient clinics of Moscow. Based on the data obtained, phenotypic between relatives and correlation by genotype between early-onset and late-onset BA cases (with AOs under and over 25 years, respectively) were estimated. It was demonstrated for the first time that the age distribution of BA morbidity in families of probands was also bimodal. Moreover, when probands with early and late AOs were analyzed separately, proband relatives in each of the two groups exhibited these two peaks of morbidity. This suggests that BA that begins in adolescence and BA of adults are not genetically independent forms of the disease. This agrees with the data on the correlation by genotype between the "forms" with the early and late AOs, which does not significantly differ from 1. However, the prevalence of BA was higher in relatives of those probands who developed BA under the age of 25 compared to relatives of those who developed BA over the age of 25 (11.28 and 7.31%, respectively; P < 0.05). Therefore, patients with early-onset BA are more "burdened" genetically with respect to this disease. Since the BA genetic heterogeneity connected with AO has not been confirmed in this study, it is assumed that the observed bimodal distribution of BA morbidity with respect to age is accounted for by the effect of age itself. In other words, it is hypothesized that ontogenetic factors affect susceptibility to BA so that the susceptibility threshold varies with age.

Emergency ambulance statistical data accumulated in Moscow during March 1983-October 1984 have been analyzed. Diurnal numbers of urgent hospitalization of patients in connection with suicides, mental disorders, myocardial infarction, defects of cerebrum vessels and arterial and venous diseases have been examined. Intensity and duration of planetary geomagnetic storms were used as magnetic activity indices. Comparison of geomagnetic and medical data rows has shown that at least 75% of magnetic storms caused increase in hospitalization of patients with the above-mentioned diseases on 30-80% at average. The dependence of the value of biotropic effect on the duration of effect and intensity of magnetic storm is observed.

Data on mortality in Moscow region during 1977 to 1996 reveal that total mortality per 1000 citizens is 3 to 4 times less than it occurred at the beginning of XX century. Catalogue of intense geomagnetic storms is compiled for 1867 to 1996. Separation of data for geomagnetic-quiet and stormy years has shown that mortality during stormy years is increased by 30% as compared with quiet years. Seasonal variations of geomagnetic storms and mortality during quiet years reaches maxima near equinoxes but the peaks of mortality during stormy years are shifted towards the summer and winter. Lethal manifestations of the weather anomalies are less pronounced than the space storms: impact of precipitation anomalies on death-rate is negligible at the given area, the air temperature decrease is followed by enhancement of the death-rate by 10% during autumn while warming led to enhancement of the death-rate by 10% for winter, spring and summer and average for a year.

Data on the screening of 2273 newborns from Moscow for the presence of the delta F508 mutation are presented. Twenty carriers were identified. The mean mutation frequency in Russia was 0.005048; the incidence of cystic fibrosis was 1 per 12,300 newborns.

Epidemiologic and clinical genetic data on cutaneous malignant melanoma (CMM) are presented. The incidence of CMM in Moscow from 1983 to 1987 was analyzed. Cumulative incidence (cumulative risk) was calculated for various life periods on the basis of estimates for various age groups, which were used as population frequencies. By the age of 85, these frequencies were 0.35% for males and 0.38% for females. Among relatives of patients, the incidence of CMM was 1.420 +/- 0.498% for males and 1.110 +/- 0.348% for females; i.e., the incidence exceeded the population frequency by a factor of 3 or 4. As a whole, the familial frequency of cancer was equal to 13.3% for male probands and 14.2% for female probands, i.e., more than three times higher than the population frequency. The data obtained formed the basis for the development of CMM classification. hereditary and nonhereditary variants of cutaneous melanoma were identified. Familial cases and CMM that occurred against the background of inherited disease or syndromes were classified as hereditary variants of CMM; taken together, they accounted for 38.8%. The data provided grounds for identification of families at increased risk for the development of CMM.

We determined with high accuracy the effect in intense geomagnetic storms on myocardial infarction an brain-stroke pathologies. We analysed the large set of data collected in Moscow from 1979 to 1981, we cleaned up the data by the first harmonic of the annual variation, and by the first three harmonics of the 7-day variations (7.0; 3.5; 2.3 days). We found that geomagnetic storms, producing large decreases in the cosmic ray intensity, increase the infarction rate by a factor 1.13 with a statistical confidence of 9 sigma and the brain stroke rate by a factor 1.07 with a statistical confidence of 4.5 sigma.

The prevalence of congenital abnormalities of the genitals was estimated in newborns of the Moscow population in 1992 and 1993. The prevalence was found to be one case per 1500-1550 newborns. The pattern and structure of the observed pathology were studied. The range of patients who were not detected during the study, due to clinical peculiarities of their pathology, was estimated.

Age-specific prevalence and incidence of bronchial asthma (BA) were estimated in a number of districts in Moscow. The average prevalence was measured as the current proportion of BA patients registered in district outpatient clinics of both the center and periphery of Moscow (2442 patients in total) among the entire population served by to these clinics. This proportion was found to be 0.5% for both men and women. Before 25 years of age, BA appeared to be commoner in males (0.57%, versus 0.3% in females); after 40 years of age, it was commoner in females (0.89%, versus 0.47% in males). The morbidity of the disease measured as the frequency of new cases of BA (diagnosed for the first time in the given patient) had two maximums for each gender: in females, between birth and nine years of age and at 45-54 years (0.39 and 0.45%, respectively) and in males, between birth and nine years and at 55-64 years (0.75 and 0.74%, respectively); and a minimum at 20-29 years of age (0.14 and 0.05% for females and males, respectively). The majority (80%) of adult BA patients were first diagnosed with BA in adulthood. The dynamics of BA incidence appeared to differ in males and females. The male incidence changed more drastically with age, while the incidence in adult females reached a maximum 10 years earlier than in adult males. The population risk of being registered for BA (accumulated morbidity) by the age of 15, 40, and 80 was 0.98, 1.35, and 2.97%, respectively, for males and 0.58, 0.95, and 2.13%, respectively, for females.(ABSTRACT TRUNCATED AT 250 WORDS)

Conditions favouring the sharp increase of risk to be infected with cercariasis (caused by trematode cercariae Trichobilharzia ocellata Brumpt, 1931, Schistosomatidae) were examined in Moscow region (Russian Federation). Main factors of worsening the cercariasis situation are as follows. a) The increase of environment pollution by everyday wastages and the overgrowing with macrophytes in internal water basins of Moscow, that makes favourable conditions for the development of molluscs, which are intermediate hosts (mainly Lymnaea ovata and L. auricularia). b) The sharp increase of number of ducks (mainly mallard Anas platyrhyncos), which are final hosts, that is a result of bird escaping from farms (approximately in 60-70-th) and of high adaptation of these birds to city water basins. The detailed estimation of the cercariasis situation in 89 water basins of different types in Moscow and recreation zone was carried out. Examples of charting the zones with different risk degree of cercariasis infection are given. It is stated that at current time the cercariasis became a significant and widely distributed medical problem, which is most important in cities (including such large one as Moscow). Prophylaxis recommendations are proposed.