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Czech Population (czech + population)
Selected AbstractsDouble Heterozygosity with Mutations Involving both the GJB2 and GJB6 Genes is a Possible, but very Rare, Cause of Congenital Deafness in the Czech PopulationANNALS OF HUMAN GENETICS, Issue 1 2005P. Seeman Summary Mutations in the GJB2 gene are the most common cause of prelingual, autosomal recessive, sensorineural hearing loss worldwide. Nevertheless, 10% to 50% of patients with prelingual nonsyndromic deafness only carry one mutation in the GJB2 gene. Recently a large 342 kb deletion named ,(GJB6-D13S1830) involving the GJB6 gene was reported in Spanish and French deafness patients, either in a homozygous state or in combination with a monoallelic GJB2 mutation. No data have been reported about the frequency of this mutation in central Europe. Thirteen Czech patients with prelingual nonsyndromic sensorineural deafness carrying only one pathogenic mutation in the GJB2 gene were tested for the presence of the ,(GJB6-D13S1830) mutation. One patient with a GJB2 mutation (313del14) also carried the ,(GJB6-D13S1830). This is the first reported Czech case, and probably also the first central European case, of prelingual deafness due to mutations involving both the GJB2 and GJB6 genes. In addition, the ,(GJB6-D13S1830) was not detected in 600 control chromosomes from Czech individuals with normal hearing. We show that in the Czech Republic the ,(GJB6-D13S1830) is not the second most common causal factor in deafness patients heterozygous for a single GJB2 mutation, and that ,(GJB6-D13S1830) is very rare in central Europe compared to reports from Spain, France and Israel. [source] Variation of Fungicide Resistance in Czech Populations of Pseudoperonospora cubensisJOURNAL OF PHYTOPATHOLOGY, Issue 3 2007J. Urban Abstract During the growing seasons between the years 2001 and 2004, 98 isolates of Pseudoperonospora cubensis from nine regions of Czech Republic were collected and screened for tolerance/resistance to the three frequently used fungicides (propamocarb, fosetyl-Al, metalaxyl). Fungicides were tested in five different concentrations, using a floating disc bioassay. Fungicide effectiveness varied considerably. Propamocarb appeared most effective and all the isolates collected in the years 2001,2003 were found sensitive to all tested concentrations [607,9712 ,g active ingredient (a.i.)/ml]. In 2004, some strains with increased resistance to propamocarb were detected. These strains were characterized by tolerance at the lowest concentrations (607 ,g a.i./ml, eventually on 1214 ,g a.i./ml); however, they were controlled by 2428 ,g a.i./ml. Fosetyl-Al was effective at the recommended concentration of 1600 ,g a.i./ml against all isolates. However, the occurrence of isolates (collected in 2001) which sporulated at low concentrations (400 and 800 ,g a.i./ml) indicated that the selection for tolerance occurs in the pathogen population. Nevertheless, this phenomenon was not confirmed with the P. cubensis isolates collected between the years 2002 and 2004. Metalaxyl was found ineffective, because 97% of the isolates showed the resistance to the recommended concentration (200 ,g a.i./ml), and the other 3% of isolates expressed tolerant response. The majority of the isolates showed profuse and/or limited sporulation at higher concentrations (400 and 800 ,g a.i./ml). A substantial shift to highly metalaxyl resistant strains was evident in the Czech P. cubensis populations during 2001,2004. [source] HFE C282Y gene variant is a risk factor for the progression to decompensated liver disease in chronic viral hepatitis C subjects in the Czech populationHEPATOLOGY RESEARCH, Issue 9 2007Pácal Aim:, To determine the prevalence of selected HFE polymorphisms (C282Y, H63D and S65C) among patients with chronic viral hepatitis B and C and to investigate their role in the progression of liver disease. Methods:, A total of 207 subjects with chronic B or C viral hepatitis and 243 healthy controls were enrolled in the case,control study. Cases were further classified into three groups according to the clinical stage of liver disease: (A) virus carriers; (B) compensated liver disease; and (C) decompensated liver disease. HFE polymorphisms were detected by polymerase chain reaction-based methodology. Fisher's exact test, ,2 and Kruskal,Wallis tests were used to test for differences in variables studied between groups. Haplotypes were inferred in silico and their distribution compared by permutation test. Modified survival (time-to-event) analysis was used to test for the differences in the progression to the decompensated liver disease in carriers of C282Y wild-type versus mutated genotypes. Results:, The frequency of HFE genotypes, alleles and haplotypes differed neither between HBV nor HCV patients versus controls. In HCV subjects: (i) the frequency of the 282Y allele was significantly higher in the (C) group compared to (B) group (12.5 vs 2.2%, respectively, P = 0.002, Fisher's exact test); and (ii) carriers of the 282Y mutation exhibited significantly faster progression to decompensated liver disease than wild-type carriers (P = 0.044, log,rank test). Conclusion:, Carriage of the minor HFE C282Y polymorphism is associated with decompensated liver disease and its earlier onset in the subjects with chronic viral hepatitis C in the Czech population. [source] Association of MHC class I chain related gene-A microsatellite polymorphism with the susceptibility to T1DM and LADA in Czech adult patientsINTERNATIONAL JOURNAL OF IMMUNOGENETICS, Issue 5 2005P. Novota Summary The results in this study suggest that microsatellite polymorphism within the transmembrane region of MIC-A gene is associated with genetic susceptibility to adult-onset of type 1 diabetes mellitus (T1DM), MIC-A5.1 allele, corrected P = 0.001, whereas it is not associated with latent autoimmune diabetes in adults (LADA) in Czech population. According to our findings, we can hypothesize that adult-onset T1DM and LADA may have partly different immunogenetic aetiopathogenesis. [source] ORIGINAL RESEARCH,WOMEN'S SEXUAL HEALTH: Vaginal Orgasm Is Associated with Vaginal (Not Clitoral) Sex Education, Focusing Mental Attention on Vaginal Sensations, Intercourse Duration, and a Preference for a Longer PenisTHE JOURNAL OF SEXUAL MEDICINE, Issue 8 2010Stuart Brody PhD ABSTRACT Introduction., Evidence was recently provided for vaginal orgasm, orgasm triggered purely by penile,vaginal intercourse (PVI), being associated with better psychological functioning. Common sex education and sexual medicine approaches might undermine vaginal orgasm benefits. Aims., To examine the extent to which women's vaginal orgasm consistency is associated with (i) being told in childhood or adolescence that the vagina was the important zone for inducing female orgasm; (ii) how well they focus mentally on vaginal sensations during PVI; (iii) greater PVI duration; and (iv) preference for above-average penis length. Methods., In a representative sample of the Czech population, 1,000 women reported their vaginal orgasm consistency (from never to almost every time; only 21.9% never had a vaginal orgasm), estimates of their typical foreplay and PVI durations, what they were told in childhood and adolescence was the important zone for inducing female orgasm, their degree of focus on vaginal sensations during PVI, and whether they were more likely to orgasm with a longer than average penis. Main Outcome Measures., The association of vaginal orgasm consistency with the predictors noted above. Results., Vaginal orgasm consistency was associated with all hypothesized correlates. Multivariate analysis indicated the most important predictors were being educated that the vagina is important for female orgasm, being mentally focused on vaginal sensations during PVI, and in some analyses duration of PVI (but not foreplay) and preferring a longer than average penis. Conclusions., Focusing attention on penile,vaginal sensation supports vaginal orgasm and the myriad benefits thereof. Brody S, and Weiss P. Vaginal orgasm is associated with vaginal (not clitoral) sex education, focusing mental attention on vaginal sensations, intercourse duration, and a preference for a longer penis. J Sex Med 2010;7:2774,2781. [source] ORIGINAL RESEARCH,PSYCHOLOGY: Women's Partnered Orgasm Consistency Is Associated with Greater Duration of Penile,Vaginal Intercourse but Not of ForeplayTHE JOURNAL OF SEXUAL MEDICINE, Issue 1 2009Petr Weiss PhD ABSTRACT Introduction., It has been asserted that women's likelihood or consistency of partnered orgasm (her orgasm as a result of sexual activities with a partner) is determined by duration of foreplay, but not by duration of penile,vaginal intercourse. Aims., The objective was to examine the extent to which women's likelihood or consistency of partnered orgasm is associated with duration of foreplay, duration of penile,vaginal intercourse, and age. Methods., In a representative sample of the Czech population, 2,360 women reported their consistency of orgasm with a partner (from "never" to "almost every time"), and estimates of their typical durations of foreplay and of penile,vaginal intercourse. Main Outcome Measures., The association of consistency of partnered orgasm with typical durations of both foreplay and penile,vaginal intercourse. Results., In univariate analyses, consistency of partnered orgasm was more associated with penile,vaginal intercourse duration than with foreplay duration (consistency also correlated negatively with age). In multivariate analysis, foreplay ceased to be a significant correlate of partnered orgasm consistency (the exclusion of respondents reporting a penile,vaginal intercourse duration of 1 minute or less did not alter the results). Conclusions., When both sexual activity categories are examined in tandem on a population level, women's likelihood or consistency of partnered orgasm is associated with penile,vaginal intercourse duration, but not with foreplay duration. In contrast to the assumptions of many sex therapists and educators, more attention should be given to improve the quality and duration of penile,vaginal intercourse rather than foreplay. Weiss P, and Brody S. Women's partnered orgasm consistency is associated with greater duration of penile,vaginal intercourse but not of foreplay. J Sex Med 2009;6:135,141. [source] High prevalence of HFE gene mutations in patients with porphyria cutanea tarda in the Czech RepublicBRITISH JOURNAL OF DERMATOLOGY, Issue 3 2008K. Kratka Summary Background, Iron overload and hepatitis C virus (HCV) infection are independent factors which are thought to play a role in the pathogenesis of porphyria cutanea tarda (PCT). Objectives, To determine the prevalence of the HFE gene mutations p.Cys282Tyr (C282Y), p.His63Asp (H63D) and p.Ser65Cys (S65C), the p.Tyr250X (Y250X) mutation of the TFR2 gene, and HCV infection in patients with PCT in the Czech population, and to make comparison of the iron status among the respective genotypes. Methods, Iron metabolism indices, results of mutational analysis and serological markers of HCV infection were examined in 63 patients with PCT. Results, The HFE gene mutations were detected in 70% of patients with PCT compared with 35% in the control group (P < 0·001). Mean serum ferritin levels were increased in all genotypes, the highest being in homozygotes for the p.Cys282Tyr mutation. HCV infection was detected in only 8% of patients with PCT. Conclusions, There was a very high prevalence of the p.Cys282Tyr and p.His63Asp mutations observed in patients with PCT accompanied by mild degrees of iron overload, which was genotype dependent. [source] | |||||||||||||