As a result of dramatic political and economic changes in the beginning of the 1990s, Q-fever epidemiology in Bulgaria has changed. The number of goats almost tripled; contact between goat owners (and their families) and goats, as well as goats and other animals, increased; consumption of raw goat milk and its products increased; and goats replaced cattle and sheep as the main source of human Coxiella burnetii infections. Hundreds of overt, serologically confirmed human cases of acute Q fever have occurred. Chronic forms of Q fever manifesting as endocarditis were also observed. In contrast, in Slovakia, Q fever does not pose a serious public health problem, and the chronic form of infection has not been found either in follow-ups of a Q-fever epidemic connected with goats imported from Bulgaria and other previous Q-fever outbreaks or in a serologic survey. Serologic diagnosis as well as control and prevention of Q fever are discussed. (+info)
Short report: simultaneous occurrence of Dobrava, Puumala, and Tula Hantaviruses in Slovakia.
The prevalence of antibody to hantaviruses in Slovakia (serum panel n = 2,133) was lower in the western part (0.54%) and higher in the eastern part (1.91%) of the country and was found to be significantly enhanced in a group of forest workers from eastern Slovakia (5.88%). One-third of the IgM-negative convalescent phase sera from patients with hemorrhagic fever with renal syndrome exhibited antibodies reacting predominantly with Puumala virus antigen, while two-thirds had antibodies directed mainly against Hantaan virus antigen. Fine analysis of two Hantaan virus-reactive sera by a focus reduction neutralization test showed that Dobrava hantavirus was the source of these human infections. Initial results of rodent screening indicated the circulation of Dobrava virus in populations of striped field mice (Apodemus agrarius) in eastern Slovakia. (+info)
Analysis of the SMN and NAIP genes in slovak spinal muscular atrophy patients.
We identified homozygous absence of exon 7 of the telomeric copy of the survival motor neuron gene (telSMN) in 88.4% (38/43) of spinal muscular atrophy (SMA) patients from Slovakia. Additional deletions within the neuronal apoptosis inhibitory protein (NAIP) gene were found in 38.5% of type I, 12.5% of type II and never in type III SMA patients. Neither the SMN nor the NAIP gene was deleted in 81 healthy relatives and 25 controls tested. In one family, pseudodominant inheritance was identified. Both the type III SMA father and type II SMA son carried the homozygous deletion of the telSMN gene. One SMA I patient showed an SMN hybrid gene, probably created by intrachromosomal deletion. In two haploidentical type II SMA sibs, the telSMN exon 7 was absent on one chromosome, while the other carried an A-->G transition 96 bp upstream of exon 7 of the telSMN gene, a potential disease-causing mutation in these patients. (+info)
High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots.
Alkaptonuria (AKU) is an autosomal recessive disorder caused by the deficiency of homogentisate 1,2 dioxygenase (HGO) activity. AKU shows a very low prevalence (1:100,000-250,000) in most ethnic groups. One notable exception is in Slovakia, where the incidence of AKU rises to 1:19,000. This high incidence is difficult to explain by a classical founder effect, because as many as 10 different AKU mutations have been identified in this relatively small country. We have determined the allelic associations of 11 HGO intragenic polymorphisms for 44 AKU chromosomes from 20 Slovak pedigrees. These data were compared to the HGO haplotype data available in our laboratory for >80 AKU chromosomes from different European and non-European countries. The results show that common European AKU chromosomes have had only a marginal contribution to the Slovak AKU gene pool. Six of the ten Slovak AKU mutations, including the prevalent G152fs, G161R, G270R, and P370fs mutations, most likely originated in Slovakia. Data available for 17 Slovak AKU pedigrees indicate that most of the AKU chromosomes have their origins in a single very small region in the Carpathian mountains, in the northwestern part of the country. Since all six Slovak AKU mutations are associated with HGO mutational hot spots, we suggest that an increased mutation rate at the HGO gene is responsible for the clustering of AKU mutations in such a small geographical region. (+info)
Effect of diet and 677 C-->T 5, 10-methylenetetrahydrofolate reductase genotypes on plasma homocyst(e)ine concentrations in slovak adolescent population.
The objective of this study was to evaluate the effect of diet and 677 C-->T mutation of the methylenetetrahydrofolate reductase (MTHFR) gene on plasma homocyst(e)ine concentrations in an adolescent population (113 males, age: 14.2+/-2.4 years; 202 females, age: 14.9+/-2.1 years) from a region characterized by high cardiovascular mortality. Homocyst(e)ine levels did not differ between males and females (9.4+/-3.5 and 8.9+/-3.1 micromol/l, respectively). The homozygosity for the 677 C-->T MTHFR mutation was found in 4.6 % of subjects. No differences in homocyst(e)ine levels were found between MTHFR genotypes. Analysis of the diet composition which was performed on a 24-hour daily recall basis and a food frequency questionnaire showed a low daily intake of vitamin B6 (males: 1.13 mg/66% RDA; females: 0.92 mg/61% RDA). Daily folic acid intake was 0.21 g/105% RDA in males and 0.23 g/115% RDA in females. The results of our study show that the high homocyst(e)ine levels in the adolescent population were not affected by the 677 C-->T MTHFR mutation. We conclude that an insufficient dietary intake of vitamin B6 and folic acid is responsible for this finding. This is in accord with the recommendation that the dietary allowances for folate should be reset to the originally prescribed levels of 0.4 g/day which should be sufficient to control the homocysteine levels. (+info)
A new geographical gradient in vole population dynamics.
A new geographical gradient in the dynamics of small rodents is demonstrated by analysing 29 time series of density indices of the common vole (Microtus arvalis) from Poland, the Czech Republic and the Slovak Republic. This gradient extends from more stable northerly populations in coastal Poland to more variable and cyclic populations in the southernmost parts of the Slovak Republic, and is hence a reversal of the Fennoscandian gradient. All studied variables (such as mean density, cycle amplitude, density variability and the coefficients in a second-order autoregressive model) exhibit consistent latitudinal variation. Possible underlying factors are discussed. In particular, we suggest that seasonality may be a key element in explaining the observed new gradient. (+info)
Lactate dehydrogenase activity in human placenta following exposure to environmental pollutants.
The impact of environmental pollution at the place of residence of pregnant women and of their smoking habits on the cellular energy metabolism of placental tissue was investigated. Samples of full-term placentas were randomly collected from two environmentally different regions of Slovakia (Bratislava, Stara Lubovna) and the activity of lactate dehydrogenase (LDH) was measured. Our results showed enhanced LDH activity in the placenta that was dependent on both the type of environmental pollutants at the place of residence and the smoking habits during pregnancy. The enhanced LDH activity may reflect hypoxic conditions due to the accumulation of heavy metals and toxic compounds of tobacco smoke in the placental tissue. A high content of heavy metal particles, found in placental samples from Stara Lubovna in our previous studies, might contribute to the increased LDH activity in placentas from this region. We hypothesize that fine metal particles deposited in the placental tissue might be phagocytozed by the syncytiotrophoblast, thus contributing to the decreased oxygen level in placental tissue. (+info)
Epidemiological survey of human borreliosis diagnosed in Eastern Slovakia.
439 sera of patients from eastern Slovakia suspected of Lyme borreliosis were examined for anti-Borrelia IgG and IgM antibodies by ELISA (Ezygnost, Dade Behring, Germany). Out of the total number of 64 sera, e.g. in 14.6% found anti-Borrelia antibodies were. Among seropositive patients, 54.7% were women and 45.3% men. The highest incidence of the disease was diagnosed in the group of women aged 55-64 and men aged 45-54. Out of 29 positive sera of men, 55.2% had IgG antibodies, 27.6% IgM antibodies and 17.2% both types of antibodies. Out of 35 positive sera of women, 48.6% had IgG antibodies, 40.0% IgM antibodies and 11.4% both types of antibodies. Erythema Chronicum Migrans--ECM (31.3%) and arthritis (25.0%) prevailed among clinical symptoms, in contrast with only 7.8% of neurological cases. In men, arthritis most frequently occurred (27.6%), while in women erythema migrans forms (37.1%). Other manifestations of the disease appeared in 13 patients (20.3%), and 10 patients (15.6%) had no record of clinical manifestations. As shown by patients' records, 32.8% reported attachment of tick, 20.3% insect bites and 29.7% were not aware of being bitten by vectors. Seasonal dynamics of diagnosed cases reached three peaks with the highest numbers in February, May and October. (+info)