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  • 1
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract A homozygous gene deletion at the glutathione S-transferase M1 (GSTM1) locus of genomic DNA from blood spots was studied by PCR in the group of Slavic populations from the north-western and central-eastern regions of European Russia and in patients with lung cancer (LC), other tumors (OT), endometriosis (E), alcoholic cirrhosis (AC), cystic fibrosis (CF) and chronic bronchitis (CB). The frequencies of the GSTM1 0/0 genotype were 38.8% and 67.5% for both population groups, respectively. The proportion of the GSTM1 gene deletion genotype was estimated as significantly increased in LC (81%), OT (65%), E (81%), AC (77.3%), and in CB (73.6%) patients with symptoms of CB confirmed by X-ray but not in CB patients without X-ray evidence of disease (40.9%). A definite preponderance of GSTM1-0 homozygotes (51.1%) has been registered in CF patients of the pancreatic sufficient group with clear-cut pulmonological manifestations but not in those of the pancreatic insufficient group with predominantly intestinal or mixed clinical symptoms (41.2% and 37.5%, respectively). Earlier clinical manifestations and death before the age of 5 years are typical for GSTM1-deleted CF patients. These data support the notion that GSTM1 deletion should be considered as a convenient genetic marker for the early detection of groups at higher risk of many diseases caused by environmental and genetic factors, where manifestation depends on the lack of detoxification. High levels of GSTM1 0/0 genotypes in E patients favor the substantial contribution of certain environmental toxins in the pathogenesis of this widespread disease.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract A homozygous gene deletion at the glutathioneS-transferase M1 (GSTM1) locus of genomic DNA from blood spots was studied by PCR in the group of Slavic populations from the north-western and central-eastern regions of European Russia and in patients with lung cancer (LC), other tumors (OT), endometriosis (E), alcoholic cirrhosis (AC), cystic fibrosis (CF) and chronic bronchitis (CB). The frequencies of the GSTMI 0/0 genotype were 38.8% and 67.5% for both population groups, respectively. The proportion of the GSTM1 gene deletion geno-type was estimated as significantly increased in LC (81%), OT (65%), E (81%), AC (77.3%), and in CB (73.6%) patients with symptoms of CB confirmed by X-ray but not in CB patients without X-ray evidence of disease (40.9%). A definite preponderance of GSTM1-0 homozygotes (51.1%) has been registered in CF patients of the pancreatic sufficient group with clear-cut pulmonological manifestations but not in those of the pancreatic insufficient group with predominantly intestinal or mixed clinical symptoms (41.2% and 37.5%, respectively). Earlier clinical manifestations and death before the age of 5 years are typical for GSTM1-deleted CF patients. These data support the notion that GSTM1 deletion should be considered as a convenient genetic marker for the early detection of groups at higher risk of many diseases caused by environmental and genetic factors, where manifestation depends on the lack of detoxification. High levels of GSTM1 0/0 genotypes in E patients favor the substantial contribution of certain environmental toxins in the pathogenesis of this widespread disease.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract A homozygous gene deletion of the glutathione S-transferase M1 (GSTM1) locus of genomic DNA from blood spots was studied by the polymerase chain reaction in a group of French heavy smokers (n = 361), which included patients with severe chronic bronchitis (SCB; n = 87), moderate chronic bronchitis (MCB; n = 102) and hard smokers (HS) with no permanent clinical symptoms of chronic bronchitis (n = 172). The GSTM1 0/0 genotype was found in 71.3% and 65.7% of cases in SCB and MCB, respectively, compared with only 47.1% in the control HS group (P = 0.0002). This latter figure (47.1%) is consistent with the average GSTM1 deletion frequency in French Caucasians. Moreover, the results showed a significant difference in the distribution of the GSTM1 0/0 genotype for both the SCB and MCB groups against the control HS group, according to gender (SCB: P = 0.001; MCB: P = 0.005), age (SCB: P = 0.0001; MCB: P = 0.005) and smoking history (SCB: P = 0.0001; MCB: P = 0.005). Thus, individuals homozygous for the GSTM1 gene deletion, especially in the under-41 age group (SCB: P = 0.001; MSB: P = 0.04) with an average smoking history of 16–30 pack-years (SCB: P = 0.002; MSB: P = 0.01) are more prone to chronic lung diseases, such as SCB and MCB, than are GSTM1 +/+ or 0/+ subjects. Population screening of young people for the identification of GSTM1 0/0 subjects, with special emphasis on smoking habits, might be useful (1) for the early detection of individuals at high risk of lung complications caused by environmental toxins and pollutants and (2) in clinical practice, in order to prevent the development of chronic bronchitis, which is a common disease.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary The frequency of the F508 deletion (ΔF508) has been analyzed in 189 cystic fibrosis (CF) patients from the European part of the USSR, viz. 127 nothern Slavonians (Leningrad region), 30 southern Slavonians (the Ukraine), 10 central Slavonians (Moscow region), 14 Moldavians (Kishenev region) and 8 Lithuanians (Vilnius region). The distribution of CF+ chromosomes with and without ΔF508 varied significantly in the different ethnic groups studied and correlated with the clinical manifestation of CF. The overall frequency of ΔF508 in Slavonian patients is equal to 62.5%, approximately 90% of them being heterozygous or homozygous for this mutation. The frequency of the deletion among 99 Slavonian patients with severe disease manifestation (pancreatic insufficiency, PI) is equal to 67.5%, only 12 patients having pancreatic sufficiency (PS, 17.5%). The highest value of ΔF508 (77.4%) is registered in PI/CF patients of the southern Slavonian group; it is much less frequent (about 57%) in relevant groups of Slavonians from the northern and central parts of the country. Unusually low frequencies (24% and 26%) of ΔF508 are detected in a few samples of Lithuanian and Moldavian CF patients, respectively. All ΔF508+CF-chromosomes of Slavonian origin are associated with haplotypes 2.2.2. defined by the restriction fragment length polymorphism sites KM19/PstI, CS.7/Hin6I and MP6d-9/MspI, although a high proportion (about 25%) of unknown mutations is associated with the same haplotype. Haplotype B (allele 1XV2c/TaqI; allele 2 KM19/PstI) accounts for 91% of ΔF508+CF chromosomes. Our data are consistent with the hypothesis of a single origin and subsequent diffusion of this major CF mutation; however, its interpopulational dissemination in Eastern Europe does not follow the suggested south-east to north-west gradient in Western Europe. The significance of these data for prenatal diagnosis and carrier screening of CF mutations is briefly discussed.
    Type of Medium: Electronic Resource
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  • 5
    Electronic Resource
    Electronic Resource
    Springer
    Bulletin of experimental biology and medicine 73 (1972), S. 466-469 
    ISSN: 1573-8221
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 6
    ISSN: 1573-8221
    Keywords: genes ; DNA probes ; hybridization ; ceruloplasmin ; apolipoprotein A-I
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Springer
    Bulletin of experimental biology and medicine 61 (1966), S. 77-81 
    ISSN: 1573-8221
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary Applied on the 6th day of gestation, aminopterin causes in rat embryos various malformations of the eyes, facial skull, brain, extremities, abdominal wall, tail, and spine. Aminopterin application somewhere later in pregnancy causes a high embryonic mortality but no malformations in surviving embryos. The lethal effect of aminopterin on the 6th day of gestation is in direct proportion to the dose applied, whereas no such relationship exists for the teratogenic activity of aminopterin.
    Type of Medium: Electronic Resource
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  • 8
    ISSN: 1573-8221
    Keywords: atherosclerosis ; polyethylene oxide ; hemodynamics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Two once-weekly intravenous injections of the polyethylene oxide Polyox WSR-301 (yielding a blood concentration of the order of 5×10−6 g/ml) led to a 38% decrease in the area occupied by sudanophilic lesions in the aortic arch of rats fed an atherogenic diet for two weeks. Perfusion under constant pressure of the formalin-fixed vascular system in the posterior part of the body with physiological saline and then with polyethylene oxide (10−5 g/ml) was without effect in normal rats and in those with mild lipoidosis, but reduced hydrodynamic vascular resistance by 9–14.5% in rats with pronounced lipoidosis. Intravenous injection of polyethylene oxide into anesthetized rats with pronounced lipoidosis in doses that were subthreshold for normal rats (blood concentrations of the polymer were of the order of 10−7 g/ml) caused a 20% decrease in the total peripheral resistance to blood flow, with a 17–20% rise of the blood flow rate in the carotid artery.
    Type of Medium: Electronic Resource
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  • 9
    ISSN: 1573-8221
    Keywords: chorionic biopsy ; chromosomal diseases ; karyotype ; direct method
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Type of Medium: Electronic Resource
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  • 10
    Electronic Resource
    Electronic Resource
    Springer
    Neuroscience and behavioral physiology 10 (1980), S. 393-400 
    ISSN: 1573-899X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Conclusions 1. Ability to extrapolate was studied in mice with Robertsonian translocations Rb(8,17)1IEM; Rb(9,14)6Bnr; Rb(16,17)7Bnr; Rb(5,19)1Wh; and Rb(6,15)1ALD in their karyotype. 2. Among mice with the Rb(8,17)1IEM translocation the number of correct solutions to the extrapolation problem was significantly higher than the 50% random level; this evidently points to an influence of this chromosomal aberration on the level of elementary reasoning activity. 3. Ability to extrapolate was studied in mice of two sublines selected for large (subline L) and small (subline S) brain weight, and differing significantly (P〈0.001) for this feature. 4. In mice of the S subline the proportion of correct solutions during both first and repeated presentations was significantly above the 50% random level. In generations F3-F10 the proportion of correct solutions achieved by mice of the S subline was significantly (P 〈 0.001) higher than that achieved by mice of the L subline. No significant differences were found in generation F11-F13. No absolute correction is evidently present between brain weight and the level of elementary reasoning activity within the limits of one species. 5. In populations of laboratory mice, unable on the whole to solve this logical problem, there are groups of individuals which possess this ability to a significant degree. 6. Ability to solve an extrapolation problem as a manifestation of elementary reasoning activity in mice is largely hereditarily determined. 7. Selective lines of mice and mice with chromosomal aberrations are a convenient model with which to study the physiological and genetic basis of elementary reasoning activity.
    Type of Medium: Electronic Resource
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