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Objective: The aim of the study was to analyse the occurrence of lead in selected samples of fruit distilled spirits for own consumptions in terms of possible contribution to the occurrence of alcohol-attributable diseases. Methods: In a pilot study, we analysed 18 samples of fruit spirits for own consumption. Most of the samples were distilled in the local growing distilleries in the Žilina Region with exception of 3 samples collected in the Trnava Region (one of them was of Hungarian origin). Sample preparation included previous mineralization with use of microwave decomposition system Multiwave 60 50 Hz. The samples were analysed by atomic absorption spectroscopy with graphic furnace (AAS GBC XplorAA 5000 with GF 5000). Results: The average ethanol level in our samples was higher in comparison with distributed spirits. We detected lead in all samples. In two of them the concentration was lower than the limit of quantitation (LOQ). The highest lead concentrations were observed in plum spirit from Hungary (581.0 μg/l), and in grape spirit made in the Trnava Region (466.3 μg/l). Conclusions: Lead is a widespread contaminant of fruit spirits prepared for own consumption. Taking into consideration its common occurrence and possible multiplicative effect with ethanol, we can assume that lead can contribute to the occurrence of several alcohol-attributable chronic diseases. Due to the insufficient information in this field, our results provide significant insight into the issue and present an important starting point for further research.

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The development of the new technologies such as the next-generation sequencing (NGS) makes more accessible the diagnosis of genetically heterogeneous diseases such as Lynch syndrome (LS). LS is one of the most common hereditary form of colorectal cancer. This autosomal dominant inherited disorder is caused by deleterious germline mutations in one of the mismatch repair (MMR) genes – MLH1, MSH2, MSH6 or PMS2, or the deletion in the EPCAM gene. These mutations eventually result in microsatellite instability (MSI), which can be easily tested in tumor tissue. According to the actual recommendations, all patients with CRC that are suspect to have LS, should be offered the MSI testing. When the MSI is positive, these patients should be recommended to genetic counseling. Here we report a pilot study about the application of NGS in the LS diagnosis in patients considered to have sporadic colorectal cancer. The inclusion criteria for the NGS testing were MSI positivity, BRAF V600E and MHL1 methylation negativity. We have used 5 gene amplicon based massive parallel sequencing on MiSeq platform. In one patient, we have identified a new pathogenic mutation in the exon 4 of the MSH6 gene that was previously not described in ClinVar, Human Gene Mutation Database, Ensembl and InSight databases. This mutation was confirmed by the Sanger method. We have shown that the implementation of new criteria for colorectal patients screening are important in clinical praxis and the NGS gene panel testing is suitable for routine laboratory settings.