We report the molecular-phylogenetic identification of larvae of the nematode genus Gnathostoma Owen, 1836 collected from a snake, Ptyas koros Schlegel, in Laos and adult worms from the stomach of a dog in Thailand. DNA was extracted and amplified targeting the partial cox1 gene and the ITS-2 region of ribosomal DNA. Phylogenetic analyses indicated that all five advanced third-stage larvae and seven adult worms were Gnathostoma spinigerum Owen, 1836. This is also the first molecular evidence of infection with G. spinigerum in a snake from Laos., Jurairat Jongthawin, Pewpan M. Intapan, Oranuch Sanpool, Penchom Janwan, Lakkhana Sadaow, Tongjit Thanchomnang, Sakhone Laymanivong, Wanchai Maleewong., and Obsahuje bibliografii
Souhrn: Koronární ateroskleróza je velice rozšířená a na jejím vzniku se z 80 % podílejí klasické rizikové faktory, lipidy, krevní tlak, kouření, dieta a životospráva obecně. Významný je také podíl dědičnosti, poznatkům z oblasti genomu je v posledních letech věnována stále větší pozornost. V současné době již byla popsána řada vztahů mezi polymorfizmy nacházenými v jistých místech genů a pravděpodobností vzniku akutního infarktu myokardu v mladším věku. Průřezové studie se věnují vyhledáváním nevýhodných genotypů a alel, které by mohly ovlivňovat časný rozvoj aterosklerózy a časný vznik infarktu myokardu. V článku je uveden přehled některých dosavadních poznatků z oblasti genetiky u nemocných s akutním infarktem myokardu., Michael Aschermann, K. Sedláček, O. Aschermann, and Lit. 20
Léčba chronické hepatitidy C kombinací přímo působících perorálních virostatik (Directly Acting Antivirals – DAA) má vysokou účinnost (až 100 %), minimum kontraindikací a mimořádně příznivý bezpečnostní profil. Pozornost je nutné věnovat především lékovým interakcím, které jsou však dobře zdokumentované a uspokojivě řešitelné i v běžné klinické praxi. Současné možnosti bezinterferonové léčby představují kombinace sofosbuviru s jinými DAA nebo s ribavirinem a kombinace paritapreviru potencovaného ritonavirem + ombitasvir ? dasabuvir ? ribavirin. Klíčová slova: chronická hepatitida C – paritaprevir – ombitasvir – dasabuvir – ribavirin, Chronic hepatitis C therapy using Directly Acting Antivirals (DAA) has high efficacy (till 100 %), minimum contra-indications and extraordinarily favorable safety profile. Primarily, it is necessary to pay attention to drug-drug interactions. However they are well documented and successfully resolvable already in general clinical practice. Current possibilities of interferon-free therapy represent combinations of sofosbuvir with other DAA or with ribavirin and combination of paritaprevir boosted by ritonavir + ombitasvir ? dasabuvir (3D combination). Key words: chronic hepatitis C – paritaprevir – ombitasvir – dasabuvir – ribavirin, and Petr Husa
Giardiasis is a common gastrointestinal infection of humans and animals with a worldwide distribution. Eight genetic groups (known as assemblages A to H) are currently recognised within the species complex of Giardia duodenalis (Lambl, 1859), of which assemblages A and B are responsible for infection of humans and other mammalian hosts. Genotyping data on giardiasis are not available from Slovenia. In this work, we have characterised isolates of G. duodenalis from 85 human symptomatic cases collected during 2002-2013. Genomic DNAs were first tested by a real-time (rt) PCR assay and then by conventional PCR at three loci (beta-giardin, bg; triose phosphate isomerase, tpi; and glutamate dehydrogenase, gdh). We found that the threshold cycle (Ct) values in rt-PCR testing were higher for samples collected during 2002-2005 and that this was paralleled by a low amplification rate in conventional PCR (6 of 32, i.e. 19%). In contrast, lower Ct values and higher amplification rate (45 of 53; 85%) were observed for samples collected during 2006-2013, suggesting an adverse effect of prolonged freezing of stools. Assemblages A and B were found with an almost identical frequency in the 51 genotyped samples. In agreement with previous studies, sequences from assemblage B isolates were characterised by larger genetic variability and by the presence of heterogeneous positions, which made assignment to specific genotypes difficult. Less variability was observed in sequences from assemblage A isolates, which belonged to the human-specific subassemblage AII. These data showed that the genotypes of G. duodenalis that circulate in humans in Slovenia are similar to those previously identified in Europe., Barbara Šoba, Sabina Islamović, Miha Skvarč, Simone M. Cacciò., and Obsahuje bibliografii
Some free-living amoebae are a potential threat to human health. The best known species are those of the genus Acanthamoeba Volkonsky, 1931, which cause Acanthamoeba keratitis, granulomatous amoebic encephalitis and other forms of tissue inflammation. The aim of the present study was to search for potential pathogenic genotypes of free-living amoeba in the sand in children's playgrounds. Our results confirmed that free-living amoebae were present in all examined playgrounds. Sequences of the 18S rDNA have shown that all isolated potentially pathogenic strains of amoebae belong to genotype T4 of Acanthamoeba. The potential pathogenicity of isolates was confirmed on mice. The presence of pathogenic amoebae in the examined sand may be a potential source of human infection., Marcin Cholewiński, Piotr Solarczyk, Monika Derda, Agnieszka Wojtkowiak-Giera, Edward Hadaś., and Obsahuje bibliografii
In the field, supplemental application of N fertilizer to rice (Oryza sativa) shortly before the beginning of heading stage increases leaf N content and enhances photosynthesis during the grain-filling period. In search of varietal differences in leaf gas exchange in response to supplemental N application, we examined 13 rice varieties grown in the field during two successive years. The varieties included japonica and indica varieties, both of which are widely grown in Japan. The response to supplemental N application could not be separated clearly between variety groups; some of the japonica varieties, but none of the indica varieties, exhibited significant increase in stomatal conductance (gs) after supplemental N application. Supplemental N was more effective to increase stomatal aperture in the varieties with inherently lower gs. Varieties that showed greater response of g s to supplemental N application might be able to adjust their stomatal aperture with appropriate N control. Although the internal-to-ambient CO2 mole fraction ratio and the leaf carbon isotopic composition (δ13C) differed among varieties as a result of variations in stomatal aperture and the CO2 requirement of mesophyll, supplemental N application barely influenced these parameters, because it only moderately affected stomatal aperture. Since δ13C tended to increase with increasing number of days from transplantation to heading stage in japonica varieties, δ13C values were more sensitive to differences in growth rate between years than to N application., S. Shimoda, A. Maruyama., and Obsahuje bibliografii
Toxoplasma gondii (Nicolle et Manceaux, 1908) is an obligatory intracellular protozoan parasite prevalent in animals and humans worldwide having medical and veterinary importance on account of causing abortion or congenital disease in intermediate hosts, including man. Since T. gondii has already been identified in the milk of goats, Capra aegagrus hircus (Linnaeus), the possibility of acquiring infection by ingesting unpasteurised goat milk should be taken into consideration. Thus, the aim of the present study was to determine the presence of T. gondii DNA in goat milk. First, 73 goats (females) from 36 farms located in Poland were examined serologically by direct agglutination test (DAT) to estimate the T. gondii serological status. Milk samples from 60 selected lactating females were examined for the presence of T. gondii DNA by Real time PCR and nested PCR (B1 gene). To estimate the clonal type of detected T. gondii, multiplex PCR was performed using 6 markers. In DAT, positive results were found in 70% of 73 goats. Among examined 60 milk samples, 65% were positive in Real time PCR and 43% in nested PCR. It is noteworthy that 11 samples positive in PCR were collected from seronegative goats. The multilocus PCR analysis mostly revealed the occurrence of genotype III, which is relatively rare in Europe. The recorded high prevalence of anti-Toxoplasma antibodies in tested goats (70%), associated with a high prevalence of T. gondii DNA in goat milk samples (65%), indicates a potential risk of the parasite transmission through goat milk ingestion., Jacek Sroka, Paweł Kusyk, Ewa Bilska-Zając, Jacek Karamon, Jacek Dutkiewicz, Angelina Wójcik-Fatla, Violetta Zając, Krzysztof Stojecki, Mirosław Różycki, Tomasz Cencek., and Obsahuje bibliografii
The primary aim was to determine frequencies of mutations related to risk of venous thrombosis in healthy Caucasians in Central Bohemia. In a cohort of 1527 healthy individuals the frequency of risk alleles for the mutations FV Leiden and FII 20210G>A was 4.5 % and 1.3 %, respectively. Frequency of 4G PAI-1 allele was 55.5 %. Genotype frequencies were: GG 91.03 %, GA 8.91 %, an d AA 0.07 % for FV Leiden; GG 97.45 %, GA 2.49 %, and AA 0.07 % for FII 20210G>A; 4G/4G 30.26 %, 4G/5G 50.56 %, and 5G/5G 19.19 % for PAI-1. Frequency of the risk allele A in polymorphism SERPINC1 (IVS +141G >A) was 11.3 %, and frequencies of genotypes were as follows: GG 78.36 %, GA 20.66 %, and AA 0.98 %. Frequency of the risk allele T for polymorphism GP6 13254T>C was 87.7 %, and frequencies of genotypes were as follows: TT 77.14 %, TC 21.15 %, and CC 1.70 %. Frequency of the risk allele A in polymorphism CYP4V2 (Lys259Gln ) was 65.2 %, and frequencies of genotypes were: CC 12.25 %, CA 45.12 %, and AA 42.63 %. All observed genotypes and alleles frequencies were without gender differences. Their occurrences confirm a relatively high prevalence of hereditary thrombophilia predisposition in the Czech Republic., T. Kvasnička ... [et al.]., and Obsahuje bibliografii a bibliografické odkazy
Cíl studie: Cílem studie bylo zjištění vztahů mezi manifestací tinnitu, nálezem na sluchových evokovaných potenciálech a genetickým pozadím u receptoru pro gamaaminomáselnou kyselinu typu A (GABA(A) receptor), podporující desinhibiční hypotézu vzniku tinnitu. Soubor a metodika: Bylo vyšetřeno 131 pacientů z hlediska sluchové ztráty, provedena kvantifikace tinnitu, sluchové evokované potenciály střední latence (MLR) a kmenové sluchové evokované potenciály (BAEP) a dále stanovení genotypu (CA)n repetitivní sekvence pro beta‑3 podjednotku GABA(A) receptoru. Následně byly hledány vztahy mezi jednotlivými výsledky a manifestací tinnitu. Výsledky: Byla nalezena korelace tinnitus skóre s amplitudovým poměrem vln V/III v BAEP (R = 0,22, p < 0,001) a s průměrným sluchovým prahem (R = 0,22, p = 0,17). Rovněž byla nalezena korelace tinnitus skóre s amplitudou vlny PA v MLR (R = 0,31–0,37; p < 0,001). Výsledky MLR neukázaly žádný vztah k průměrnému sluchovému prahu. U skupiny s kratší anamnézou tinnitu (méně než devět měsíců) byl prokázán rozdíl v manifestaci tinnitu na genotypu pro (CA)n repetitivní sekvenci genu pro beta‑3 podjednotku GABA(A) receptoru (p = 0,002). Tento výsledek byl rovněž konzistentní s rozložením amplitudy vlny PA v dané subpopulaci. Závěr: Tyto výsledky svědčí o existenci dvou hlavních regulačních mechanizmů vzniku tinnitu: první, který je závislý na velikosti sluchové ztráty, je na úrovni mozkového kmene, zatímco druhý je na úrovni korové s možnou souvislostí s genotypem (CA)n repetitivní sekvence pro beta‑3 podjednotku GABA(A) receptoru., Study aim:Study objective was to explore associations between manifestation of tinnitus, auditory evoked potentials and genetic background of gamma‑aminobutyric acid type A (GABA(A) receptors) to support the disinhibited feedback hypothesis of tinnitus generation. Materials and methods: A population of 131 patients was assessed for severity of hearing loss, quantification of tinnitus, mid‑latency responses (MLR) and brainstem auditory evoked potentials (BAEP), and (CA)n tandem repeat polymorphism in GABA(A) Beta‑3 subunit gene to establish any correlation with manifestation of tinnitus. Results: It was observed that tinnitus score correlates with V/III amplitude ratio in BAEP (R = 0.22, p < 0.001) and with mean pure tone audiometry (PTA) threshold (R = 0.22, p = 0.017). Analysis of the MLR results showed a significant correlation between the PA wave amplitude and the tinnitus score (R = 0.31–0.37; p < 0.001). MLR result analysis showed no statistically significant correlation between the wave amplitudes and the mean auditory threshold. An analysis of a subgroup with shorter clinical history (less than nine months) revealed a statistically significant difference in the tinnitus score in relation to the genotype of (CA)n tandem repeat of the GABRß3 receptor subunit gene (p = 0.002). This result was also consistent with the distribution of the PA wave amplitude in the given subpopulation. Conclusion: Our findings indicate existence of two main regulatory mechanisms of tinnitus generation: first, the brainstem mechanism is dependent on the severity of the hearing loss; second, the cortical mechanism is likely to be dependent on the genotype of (CA)n tandem repeat in GABA(A) beta‑3 subunit gene., and J. Rottenberg, M. Zallmann, R. Kostrica, M. Jurajda, T. Talach
BACKGROUND: The presence of several risk factors (genetic and non-genetic) has greater impact on the risk of premature coronary artery disease (CAD) than single risk factor. OBJECTIVE: The aim of the study was to establish possible relations between genotypes and alleles of 677C>T polymorphism of MTHFR gene and some traditional risk factors e.g. elevated levels of lipid parameters and smoking in development of premature CAD. METHODS: The groups comprised 152 patients with angiographically documented premature CAD (aged 42.9 +/- 5.5) and 121 age-matched blood donors (aged 42.3 +/- 6.5) were studied. The MTHFR 677C>T polymorphism was genotyped with Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP) method. RESULTS: Patients with TT genotype who simultaneously smoked had increased risk of premature CAD compared to non-smoking cases with CC genotype (OR = 24.62). We also found that individuals with TT genotype and elevated LDL-cholesterol (LDL-chol.) level had significantly higher risk of CAD (OR = 9.92) than individuals with normal LDL-chol. level and CC genotype. CONCLUSIONS: The present study shows that simultaneous presence of MTHFR TT genotype and smoking or elevated levels of LDL-chol. influences the risk of premature CAD. This findings give interesting contribution to gene-environment interaction problem that may have clinical implications in the future. and B. Sarecka-Hujar, I. Zak, J. Krauze