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First confirmed sheep scrapie with A136R154Q171 genotype in Slovakia.

The first confirmed evidence of scrapie in Slovakia was demonstrated in one sheep of the autochthonous Merino breed from the southeastern part of the country. The reported scrapie was diagnosed during compulsory transmissible spongiform encephalitis (TSE) screening of sheep over 9 months of age assigned for consumption. The positive ewe was 5-year-old, which did not show any clinical signs of scrapie. The presence of the proteinase-resistant prion protein (PrP) in brain was proved independently by two laboratories using two different immunochemical screening systems, namely the Prionics Check (Western blot analysis) and Enfer TSE enzyme-linked immunosorbent assay (ELISA). In addition, the genotyping analysis of PrP gene demonstrated the presence of PrP genotype from the high risk group R4. The affected sheep was homozygous for the allele PrP(ARQ) (ARQ/ARQ) coding for alanine (A), arginine (R) and glutamine (Q) at three most relevant codons (136, 154 and 171, respectively). The healthy sister of the positive ewe was heterozygous in the PrP locus and carried alleles ARQ/ARR.

Amino Acid Sequence↗

[Epidemiological profile of thyroid volume and disorders in Slovakia].

UNLABELLED: After 45 years of successful iodine prophylaxis a total of 6324 subject aged 7 to 70 years from East (72.0%), Central (16.2%) and West Slovakia (11.8%) were examined. The thyroid volume (ThV) by ultrasound was examined in a total of 6045 subjects. Serum level of thyrotropin (TSH) was estimated in 1919 (30.3%) and anti-thyroperoxidase antibodies (anti-TPO) in 2589 (40.9%) subjects. Iodine was estimated in 1983 (31.3%) spot urine samples. The median and 75th percentile of ThV were increasing (respectively) from 3.9 and 5.2 ml (10 yr), 8.2 and 10.2 ml (17 yr), 12.4 and 16.3 ml (31-40 yr) up to 14.1 and 19.9 ml (61-70 yr). The frequency of ultrasound hypoechogenicity as an early sign of autoimmune thyroiditis increased from 3.9% (28/709; 10 yr), 16.3% (66/403; 21-40 yr) and 30.3% (205/665; 41-60 yr) up to 51.0% (48/94; 61-70 yr). Positive anti-TPO level as an other sign of autoimmune thyroiditis was found in 1.6% (11/683; 7-13 yr), 7.3% (47/644; 17-30 yr) and 20.4% (257/1262; 31-70 yr). In the adults 19.0% (268/1409) positive anti-TPO were found. Among 1367 adults 6.2% (N = 85) of TSH levels were higher than 4.0 mU/l and 7.5% (N = 103) were lower than 0.2 mU/l. Among 1504 adults a total of 93 (6.1%) of nodules larger than 10 mm in diameter was found (14 in males and 75 in females). In this study the nature of nodules remained unidentified, since all subjects were referred to additional examinations. Malignant nodules were suspected in 3 females with high serum thyroglobulin level and in one additional female with occasionally found very large nodule. The estimation of urinary iodine showed a majority of values in optimal range (> 100-200 microg/l). CONCLUSIONS: Thyroid volume in about 75% examined subjects of all age groups may be considered as relatively small which is apparently due to 45 years of effective iodine prophylaxis. In spite of that the volume of remaining about 25% thyroids were apparently increased which may be presubambly explained by the effect of mainly genetic, but also environmental factors.

Adolescent↗

Incidence of fumonisins, moniliformin and Fusarium species in poultry feed mixtures from Slovakia.

A total of 50 samples of poultry feed mixtures of Slovak origin were analysed for fumonisin B(1) and B(2) (FB(1), FB(2)) and moniliformin (MON) using SAX-clean up procedure being detected by high pressure liquid chromatography with mass spectrometry (HPLC-MS) and diode array detection (HPLC-DAD), respectively. The samples were also simultaneously investigated for Fusarium species occurrence, and for the capability of Fusarium isolates recovered to produce FB(1) and MON in vitro. FB1 was detected in 49 samples (98 %) in concentrations ranging from 43 to 798 microg x kg(-1), and FB(2) in 42 samples (84 %) in concentrations ranging from 26 to 362 microg x kg(-1). MON was detected in 26 samples (52 %) in concentrations that ranged from 42 to 1,214 microg x kg(-1). Only two Fusarium populations were encountered, namely F. proliferatum and F. subglutinans, of which the former was the most dominant and frequent. All 86 F. proliferatum isolates tested for FB1-production ability proved to be producers of the toxin although none of them produced MON. On the contrary, MON production was observed in a half out of 16 F. subglutinans isolates tested, yet no FB1 production was detected in this case. Despite the limited number of samples investigated during this study, it is obvious that poultry feed mixtures may represent a risk from a toxicological point of view and should be regarded as a potential source of the Fusarium mycotoxins in central Europe. This is the first reported study dealing with fumonisin and moniliformin contamination of poultry feeds from Slovakia.

Animal Feed↗

[Epidemiology of cleft disorders in East Slovakia].

Cleft lip and cleft palate are problems of great importance. The majority of cleft lips and palate are caused by the misdevelopment of mesoderm in facial region in second and third week of gestation. The main goal of the study was to evaluate the epidemiology of cleft lip and palate in East Slovakia and influence of environmental agents on the development of cleft lip and palate. The data were collected from epidemiological study performed by investigators among the population born with cleft anomaly in the period 1985-2000. Our conclusions concerning type of cleft and possible genetic and environmental influences were correlated to the literature. All of our results are pretty close to results published in literature.

Child↗

Prevalence, epidemiological aspects and clinical importance of TT virus infection in Slovakia.

The aim of the study was to assess the prevalence, clinical impact and importance of different risk factors of transmission of TTV infection in Slovakia using two PCR methods. Sera of 426 adult persons were examined. TTV DNA was identified by PCR using primers from N22 and untranslated region (UTR) respectively. The established prevalence of TTV tested with N22 and UTR primers according to patients groups was: acute hepatitis of unknown etiology 4 resp. 28 of 37, acute hepatitis B 3 resp. 29 of 38, chronic hepatitis B 11 resp. 41 of 44, chronic hepatitis C 10 resp. 93 of 102, hemodialysis patients 13 resp. 72 of 72, health care workers 0 resp. 27 of 33, control group 8 resp. 83 of 100. Using N22 primers, TTV infection occurred more frequently in chronic hepatitis B group compared with health care workers, if UTR primers were used the group of hemodialysis patients differed significantly from both acute hepatitis groups, health care workers and controls (p < 0.05). From possible risk factors hemodialysis and transfusion count showed notable differences. Bilirubin and aminotransferase levels did not differ between TTV positive and negative groups. No pathogenetic role of TT virus in liver injury was confirmed.

Adult↗

Novel and recurrent germline alterations in the MLH1 and MSH2 genes identified in hereditary nonpolyposis colorectal cancer patients in Slovakia.

Hereditary non-polyposis colorectal cancer (HNPCC) is associated with germline mutations in DNA mismatch repair genes, predominantly MSH2 and MLH1. Mutation carriers develop cancers in the colorectum, endometrium, ovary, stomach, small intestine and the upper urinary tract. We describe here the results of a mutational analysis of 11 unrelated HNPCC patients by direct genomic sequencing of MLH1 and MSH2. The alterations found include 7 novel changes and 4 different pathogenic mutations described previously in Poland, Moldavia, Finland, Germany, France and USA. Four novel pathogenic mutations in the MLH1 gene include two frameshift mutations (c.1150delG and c.1210_1211delCT), one missense mutation (c.793C>A) and one intron-exon border mutation (c.546- 2A>C). The last change resulted in the skipping of exon 7, as shown by sequencing of RT-PCR products. The only novel MSH2 pathogenic change was a nonsense mutation c.1129C>T. The novel intronic change c.381-41A>G in MLH1 was found in a patient carrying a previously-described mutation in the MSH2 gene. Interestingly, two unrelated patients carried also a novel change in the promoter region of MLH1 in one of the CpG islands (c.-269C>G). However, this alteration does not abrogate transcription, as shown by RT-PCR analysis. In summary, most (approximately 80%) pathogenic germline mutations detected in the studied group of patients by direct genomic sequencing of MLH1 and MSH2 were located in the MLH1 gene. These and previous data indicate that the majority of germline point mutations and small deletions/insertions in HNPCC families in Slovakia affect the MLH1 locus.

Adaptor Proteins, Signal Transducing↗

Seasonal dynamics of Ceratophyllus sciurorum sciurorum (Schrank, 1803) (Siphonaptera) in Slovakia.

The authors pay attention to an occurrence of the taxon Ceratophyllus sciurorum sciurorum (Schrank, 1803) (Siphonaptera) in Slovakia during the whole season. The curve of occurrence this taxon of fleas has showed two high points. The first top has been achieved in April and second one followed in October. In December the authors have noticed a period and named it "cocoon block". This course of the curve has been found at the species from family Myoxidae, mostly. On the other hand, the course of curve of the birdboxes nesters has the opossite position, the high points have been recorded in autumn. A conspicuous differences has been probably caused by different biology of nesters of Myoxidae and birds in boxes. The ratio of males to females these ecological groups of hosts was different, too.

Animals↗

A genetic profile of Romany (Gypsy) subethnic group from a single region in Slovakia.

The data presented here are on population structure and genetic markers (ABO, RH, MN, HP) in two series of so-called Slovak Romany subethnic groups from a single region (Gemer) in the Southeastern part of Slovakia. The results demonstrate that favourable conditions have existed for population genetic mechanisms operating in isolated populations, namely genetic drift and inbreeding. In addition, an attempt was made to compare the observed data with those available for other Romany populations and for Slovaks.

Blood Group Antigens↗

Some genetic markers in Valachian (Olachian) Gypsies in Slovakia.

ABO, RH, MN, Kell, P, Lutheran, Lewis, HP, GC, ACP, PGM1, ADA and ESD markers were studied in 122 Valachian Gypsies from Vinodol in West Slovakia. The Valachian Gypsies represent about 5% of the total number of Gypsies (400,000) living in the Czech and Slovak Republic. The results show that their gene pool differs greatly from the one obtained for other Gypsy populations. Since Valachian Gypsies form an endogamous isolate with a high degree of inbreeding, genetic drift and founder effect might have contributed to this difference.

Blood Group Antigens↗

[Non-homogeneity of the average life span in Slovakia].

The life expectancy at birth of males in the Slovak Republic (SR) is one of the shortest in Europe. Exact explanation of this phenomenon is still unknown. The statistical significance of the relation between life expectancy and various factors (infant mortality rate, ethnical structure, educational level, religious belief, economic activity of inhabitants and environmental factors) was analysed by multifactorial methods in all 38 districts of Slovakia. A surprising paradox phenomenon was observed in the areas with the highest pollutant emissions, where the life expectancy was the longest. Infant mortality rate, ethnical structure and particularly the educational level of the districts were significantly correlated with life expectancy. The life expectancy was negatively influenced mostly by the proportion of elementary--educated males. We suppose the style of life presents the background of these relations, but there is a lack of statistically reliable data from the individual districts of SR for more profound analysis. It must be stressed that neither the statistically high significant correlation is evidence of the causal connection between observed parameters. (Tab. 1, Fig. 5, Ref. 16.)

Aged↗

Mixed natural focus of tick-borne encephalitis, tularemia and haemorrhagic fever with renal syndrome in west Slovakia.

Total of 923 small mammals of 7 species were collected in locality Záhorská Ves, West Slovakia, in 1990-1992. Among examined small mammal species it was Clethrionomys glareolus (48.7% of total, 17.5% positive for tick-borne encephalitis (TBE) virus antibodies), Apodemus flavicollis (29.7% of total, 17.5% positive), A. sylvaticus (11.3% of total, 16.3% positive), and Microtus arvalis (6.2% of total, 10.5% positive). The most abundant tick species (larval and nymphal stages) on small mammals was Ixodes ricinus. The extensity of infestation was 35.1-50.7%, and the intensity of infestation ranged in average from 4.1 to 7.8 ticks per animal. Out of 884 small rodent serum samples 16.9% had neutralizing antibody to TBE virus. Eight TBE virus isolates were recovered, six from C. glareolus and one each from A. flavicollis and A. sylvaticus; seven isolates were from brain tissue and one was from a pool of lung and liver tissues. One strain of Francisella tularensis was isolated from a pool of spleens of four C. glareolus collected in August 1991. Hantavirus antigens were detected in lung tissues of four M. arvalis collected in July and November 1990-1992. Antibody to Hantaan virus was detected by ELISA in one serum sample of A. flavicollis (titer 1:256) and antibody to Puumala virus in one serum sample of C. glareolus (titer 1:16).

Animals↗

[Surgical activities at urologic departments in Slovakia 1990-1993].

In 1990 "The classification of urological operations" was introduced to all urological departments in Slovakia. The aim of the classification was to evaluate the quality of work of individual departments in respect of recent trends in surgical therapy. The annual analysis shows the procedures, which are necessary to be replaced by modern ones. The review of the first four-years shows the increase in number of operations almost by one third. Twenty of most common operations represent 73.4% of all urological procedures. The most frequent operation is prostatectomy accounting 11.8% of all operations. During the follow-up period the therapy of urolithiasis has changed principally. The results of surgical activity analysis support the need to extend methods of urinary diversion using intestine and to increase the number of radical cystectomies and prostatectomies.

Female Urogenital Diseases↗

Serological evidence of Hantaan virus in Slovakia during 1989-1991.

Nephropathia epidemica was supposed to be an European form of haemorrhagic fever with renal syndrome (HFRS). However, in 1989-1991 we found serological evidence of infection with Hantaan virus in patients' sera from Slovakia. Higher titers of antibodies against Hantaan virus were detected in sera of 6 out of 75 patients with febrile disease, renal failure and clinical diagnosis of HFRS. The higher titers of antibodies against Puumala virus were detected in sera of 6 out of 75 patients. Serologic differentiation between Hantaan and Puumala infection in patients was based on the detection of higher antibody titers (4-fold or greater differences).

Adolescent↗

[An increasing trend in cataract surgery in Slovakia (1990-1993)].

The authors present data obtained in an enquiry from all Ophthalmological Clinics and departments in Slovakia which were concerned with surgery of cataract in 1990-1993. They evaluate the number of cataracts, implanted artificial intraocular lenses, the applied surgical methods and types of implanted lenses. During the period of investigation the number of operated cataracts increased by 66%, the number of implanted lenses increased from 29% to 66.8% of the total number of operated cataracts. The number of departments which implant artificial lenses increased from 38.7% to 81.8%. The EKEK method is already used in 85%. Slowly also the number of phacoemulsifications is rising from 1.9% to 6.2%.

Adult↗

[Study of the efficacy of sewage treatment systems for fluid waste on pig farms in Slovakia].

Bacteriological, helminthological and physico-chemical examinations were carried out to investigate the technological procedure in three water treatment plants treating slurry from large-capacity pig farms (Kosická Polianka, Spisské Vlachy, Vel'ký Dur). Our investigations were focused on the testing of effectiveness of mechanical, chemical and biological treatment system most frequently used in Slovakia. Our investigations revealed that water-treatment plants, operating on pig farms, fulfil only the supplies management requirements concerning the treated water, discharged into the recipient. From the hygienic viewpoint further processing or utilization of the solid fraction remains unsolved. This fraction contains considerable concentrations of bacteria and parasitic germs (Ascaris suum, Trichuris suis, Isospora sp., Eimeria sp.) most of which exhibit high tenacity in the environment. It is recommended to process this solid fraction by composting before it is applied as a manure. However, the measured values did not exceed the reference hygienic limits. The technological stage of chemical treatment, which follows after the separation and utilizes some coagulants (aluminium sulphate, ferrous sulphate), can increase the chemical load of water stripped of crude organic pollutants, by some undesirable chemical elements.

Animal Husbandry↗

[Genetic diagnosis of phenylketonuria. IV. Mutations of phenylalanine hydroxylase gene in Caucasian and Gypsy populations in Czech and Slovakia Republics].

Direct sequencing was conducted on the regions of the exon 7 and 12 in the phenylalanine hydroxylase (PAH) gene amplified by the polymerase chain reaction, using solid-phase technology involving the biotin streptavidin system. A novel mutation and seven previously known mutations were identified in the PAH genes among 15 Caucasians and 10 Gypsies in the Czech and Slovakia republics, affected with classical phenylketonuria (PKU). Two of these substitutions (R243X and G272X) resulted in the generation of a premature stop codon, and a single base transition of G to A at codon 261 resulted in the substitution of Arg for Gln (R261Q). These three mutations together accounted for 16.7% of PKU alleles among 15 Caucasians. The R252W mutation was detected in these two groups: two Caucasians were compound heterozygous for the P281L or R408W mutations (6.7% of all mutant alleles). However, all 10 Gypsy PKU patients were homozygous for the R252W transition. The R408W mutation accounted for 43% of PKU alleles in 15 Caucasian PKU patients. A novel heterozygous C-to-G transversion at the third base of codon 263 in the exon 7, resulting in the substitution of Phe for Leu (F263L), was detected in a Caucasian PKU patient (3.3% of all mutant alleles). In this study, we revealed a novel PKU mutation of the F263L in Caucasian populations and a high-risk PKU mutation of the R252W in Gypsy populations.

Base Sequence↗

[Incidence of spinal muscular atrophy and Duchenne's muscular dystrophy in the juvenile population of central Slovakia].

Spinal muscular atrophy, type I-III and Duchenne muscular dystrophy belong to the most frequent neuromuscular diseases in children. The purpose of this work was to determine the incidence of these two diseases in liveborn children in the years 1975 to 1989 in the south part of middle Slovakia. The common incidence of all three types of spinal muscular atrophy was 1 in 5631 liveborn children (most frequent was the Werdnig-Hoffmann disease, type I--1 in 12,286). This fact confirms, that this disease belongs to the most frequent autosomal recessive diseases in children of our region too. The incidence of Duchenne muscular dystrophy was 1 in 4827 liveborn boys. The figure is in the range of the published data of the incidence of this disease. The deletion in the dystrofin gene was proved in 70% of affected boys. (Tab. 3, Fig. 1, Ref. 24).

Child↗