Remarkable variability in renal disease in a large Slovenian family with Fabry disease.
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Following the diagnosis of Fabry disease in a 45-year-old male, in 31 family members alpha-galactosidase A (alpha-Gal) activity in leucocytes was measured and mutation analysis of the alpha-Gal gene was performed. In the proband, the unique mutation A10523G/N272S in exon 6 was found, which was subsequently detected in seven males (of which one twin) and 10 female subjects. All males showed decreased to absent alpha-Gal A activity in leucocytes, but three out of 10 female subjects had alpha-Gal A activities within normal range. Although all male patients had symptoms of classical Fabry disease, such as acroparesthesias, hypohydrosis and heat-intolerance, there was considerable variability in organ involvement, especially in deterioration of renal function. Detailed studies of large families with Fabry disease may give insight into factors that influence the phenotype of this disorder. (+info)
Isolation and characterisation of Mycobacterium avium and Rhodococcus equi from granulomatous lesions of swine lymph nodes in Slovenia.
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Granulomatous lesions in bovine and especially swine lymph nodes are still frequently observed during routine veterinary meat inspections even though Mycobacterium bovis infections are no longer detected in domestic animals in Slovenia. Different lymph nodes of pigs (n = 260) were investigated using classical bacteriological and molecular methods. Mycobacterium avium alone was isolated in 47.3% of pigs and in mixed infection with Rhodococcus equi in 3.9% of pigs. R. equi alone was isolated in 27.3% and in mixed infection with mycobacteria other than M. avium in 1.5% of pigs. A total of 133 M. avium isolates were typed using the IS1245, IS901 and FR300 PCR. Almost two thirds (60.9%) of isolates belonged to M. avium hominissuis (IS901-, IS1245+ genotype), 33.8% of isolates belonged to M. avium avium (IS901+, IS1245+ genotype) and 5.3% of isolates remained non-typed. Fifty out of 85 R. equi isolates were tested for the virulence-associated antigens (VapA and VapB). Nearly two thirds (60.0%) were positive for VapB while all the other isolates were VapA- and VapB-negative. (+info)
Academic medicine: what does an outsider have to offer?
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One of the many problems of academic medicine is its detachment from actual health problems of the population. Family medicine has a potential of bridging this gap. The paper describes the positive experience from introducing family medicine as a new academic discipline to the medical school in Slovenia. Its introduction was of benefit to family medicine, which has received recognition and has experienced a rapid academic growth. Medical academic establishment has benefited by being exposed to new ideas in research and education. The key to success was the fact that the academic world accepted a newcomer to its midst and that the newcomer managed to integrate its principles into the rules of the academic environment. The next step in this process is to apply some of the positive experiences of the family medicine department to the curriculum reform of the entire faculty. (+info)
Incidence of primary Sjogren's syndrome in Slovenia.
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OBJECTIVE: To determine the annual incidence of primary Sjogren's syndrome (pSS) in Slovenia. METHODS: All patients admitted to our department of rheumatology or referred to our outpatient clinic between 1 January 2000 and 31 December 2002 owing to sicca symptoms or because of a suspicion of SS were examined. Our rheumatological department is the only tertiary referral centre for the Ljubljana region, which has a population of 599 895 Caucasian people. All patients were evaluated by the validated European criteria for SS. The exact 95% confidence interval (CI) based on binomial distribution was created for the incidence estimate. RESULTS: 248 patients were examined; 71 of them (28.6%; 65 women, 6 men) were diagnosed as having pSS. Their mean (SD) age was 51.3 (14.5) years (range 19-78). The average annual incidence for pSS in our study population was calculated as 3.9 cases per 100 000 inhabitants (95% CI 1.1 to 10.2). CONCLUSION: The estimated annual incidence of pSS in Slovenia is 3.9/100 000. (+info)
Canine babesiosis in Slovenia: molecular evidence of Babesia canis canis and Babesia canis vogeli.
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Canine babesiosis, caused by intraerythrocytic Babesia spp., is a tick-borne disease of worldwide importance. No information on canine babesiosis has been documented in Slovenia. Therefore, 238 dogs admitted to the Small animal clinic in Ljubljana from the years 2000 to 2002 were tested for the presence of babesial parasites in the blood. Based on clinical, microscopic and molecular investigations, 14 dogs (5.9%) were determined as being infected with babesiae. Clinical signs relating to acute haemolysis, fever, anorexia, depression and haematological abnormalities such as anaemia and thrombocytopenia were noticed in most of the 14 infected dogs. The morphology of the parasites was indicative of Babesia canis infection. Two subspecies were detected, namely B. canis canis (11 dogs, 4.6%) and B. canis vogeli (3 dogs, 1.3%) using PCR and subsequent sequence analysis of portions of nns rRNA gene. In addition, based on nucleotide sequence analysis, the 11 isolates of B. c. canis could be subdivided into three groups, whereas the three B. c. vogeli isolates were genetically identical. The results of this study demonstrate the presence of canine babesiosis due to B. c. canis and B. c. vogeli in Slovenia. (+info)
Alcohol consumption and indicators of alcohol-related harm in Slovenia, 1981-2002.
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AIM: To document over-time per capita alcohol consumption and connection between per capita alcohol consumption and indicators of short and long term alcohol-related harm. METHODS: Registered alcohol consumption was calculated from the data on production and trade of alcoholic beverages, using World Health Organization recommended methodology for the 1981-2002 period. The indicators of alcohol-related harm, alcohol-related mortality, and alcohol-related road-traffic accidents were calculated from mortality data and alcohol-related traffic accidents data for the 1986-2001 period. RESULTS: Estimates of apparent per capita alcohol consumption in Slovenia over the past 20 years indicate a decrease in alcohol consumption, beginning in 1982 and continuing with some fluctuations in subsequent years through 2002. Per capita consumption of ethanol from all beverages combined decreased from 1981 to 2002 by 15.1%. The drop was substantial in the period from 1981 to 1991. On average, 32 people per 100,000 aged > or =15 years died annually from all alcohol-related causes. The number of years of potential life lost (YPLL) due to all alcohol related causes decreased by 21%, with a 40% decrease in YPLL due to premature deaths from alcoholic liver disease and 113% increase in YPLL due to premature deaths from mental and behavioral disorders due to use of alcohol. CONCLUSION: Indicators of alcohol-related harm reflect high per capita alcohol consumption. With a strong legislative and public health support the situation is expected to improve. (+info)
Exposure assessment of male recruits in Slovenia to cadmium and lead due to biological monitoring.
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AIMS: In Slovenia, there were no data available for an assessment of cadmium and lead levels in the population till 2001. The present study was conducted to evaluate the cadmium and lead burden from all sources (air, food, water) with the aim of obtaining initial information on cadmium and lead levels in blood of healthy and occupationally unexposed young males. METHODS: There were 464 participants included in the analysis of blood cadmium and lead levels, aged between 18 and 27 years, the median age being 20 years. Blood samples of maximum 2 ml were taken from the cubital vein for analysis of cadmium and lead levels. RESULTS: There were 463 blood samples analyzed for cadmium and 464 for lead. Of all tested persons, 38.2% had less than 0.5 microg/l of cadmium in their blood and 28.2% up to 1 microg/l. The median level of blood cadmium was 0.5 microg/l. The percentage of recruits with blood lead level over 100 microg was 3.1%. The median level of blood lead was 35 microg/l. The differences in blood levels of both pollutants were statistically significant with regard to the region of permanent residence (P<0.001). CONCLUSIONS: The results of the study give a good assessment of cadmium and lead burdening of young Slovene male population. The information obtained provides a foundation for further comparative research at the international level as well as for further study and risk assessment of individual population groups exposed to greater risk due to their lifestyle and eating habits. (+info)
Seroprevalence of Toxocara antibodies among patients suspected of ocular toxocariasis in Slovenia.
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Ocular toxocariasis named also ocular larva migrans is caused by larvae of the roundworm Toxocara spp. The purpose of this study was to find out the seroprevalence of Toxocara antibodies in patients suspected of ocular toxocariasis. Between January 2001 and December 2003, sera from 239 ocular patients, aged 3 to 80 years, were examined by ELISA and confirmed by Western blot test. Out of the 239 patients, 172 (72%) were seronegative and 67 (28%) were Toxocara seropositive; 95% CI (22-34%). The median age of Toxocara seropositive patients was 37.6 years. There was no significant difference in the number of Toxocara positive sera between the younger age group (< or = 14 years) and the older age group (> 14 years), p > 0.05. A high rate of Toxocara seropositivity in ocular patients should alert the ophthalmologists in Slovenia to include toxocariasis in the differential diagnosis of eye diseases more frequently. (+info)