Babesia spp. in ticks and wildlife in different habitat types of Slovakia

Background: Babesiosis is an emerging and potentially zoonotic disease caused by tick-borne piroplasmids of the Babesia genus. New genetic variants of piroplasmids with unknown associations to vectors and hosts are recognized. Data on the occurrence of Babesia spp. in ticks and wildlife widen the knowledge on the geographical distribution and circulation of piroplasmids in natural foci. Questing and rodent-attached ticks, rodents, and birds were screened for the presence of Babesia-specific DNA using molecular methods. Spatial and temporal differences of Babesia spp. prevalence in ticks and rodents from two contrasting habitats of Slovakia with sympatric occurrence of Ixodes ricinus and Haemaphysalis concinna ticks and co-infections of Candidatus N. mikurensis and Anaplasma phagocytophilum were investigated. Results: Babesia spp. were detected in 1.5 % and 6.6 % of questing I. ricinus and H. concinna, respectively. Prevalence of Babesia-infected I. ricinus was higher in a natural than an urban/suburban habitat. Phylogenetic analysis showed that Babesia spp. from I. ricinus clustered with Babesia microti, Babesia venatorum, Babesia canis, Babesia capreoli/Babesia divergens, and Babesia odocoilei. Babesia spp. amplified from H. concinna segregated into two monophyletic clades, designated Babesia sp. 1 (Eurasia) and Babesia sp. 2 (Eurasia), each of which represents a yet undescribed novel species. The prevalence of infection in rodents (with Apodemus flavicollis and Myodes glareolus prevailing) with B. microti was 1.3 % in an urban/suburban and 4.2 % in a natural habitat. The majority of infected rodents (81.3 %) were positive for spleen and blood and the remaining for lungs and/or skin. Rodent-attached I. ricinus (accounting for 96.3 %) and H. concinna were infected with B. microti, B. venatorum, B. capreoli/B. divergens, Babesia sp. 1 (Eurasia), and Babesia sp. 2 (Eurasia). All B. microti and B. venatorum isolates were identical to known zoonotic strains from Europe. Less than 1.0 % of Babesia-positive ticks and rodents carried Candidatus N. mikurensis or A. phagocytophilum.Inst. de PatobiologíaFil: Hamsikova, Zuzana. Slovak Academy of Sciences. Institute of Zoology; EslovaquiaFil: Kazimirová, Mária. Slovak Academy of Sciences. Institute of Zoology; EslovaquiaFil: Harustiakova, Danka. Masaryk University. Faculty of Medicine and Faculty of Science, Institute of Biostatistics and Analyses; República ChecaFil: Mahrikova, Lenka. Slovak Academy of Sciences. Institute of Zoology; EslovaquiaFil: Slovak, Mirko. Slovak Academy of Sciences. Institute of Zoology; EslovaquiaFil: Berthova, Lenka. Slovak Academy of Sciences. Biomedical Research Center. Institute of Virology; EslovaquiaFil: Kocianova, Elena. Slovak Academy of Sciences. Biomedical Research Center. Institute of Virology; EslovaquiaFil: Schnittger, Leonhard. Instituto Nacional de Tecnología Agropecuaria (INTA). Instituto de Patobiología; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentin

Eschatology of saint Victorinus of Poetovio: Theological and philological analysis of the Latin terms

Eschatology of Victorinus of Poetovio as one of the ante-nicene chiliasts is closely related to the eight-day, or eight-thousand concept of the history of the world and the human race. According to this concept, the universe will exist four periods: the first – from the creation of God the world and the first people before the first coming of Christ on the earth (the first five days of creation, or the first five thousand years); the second – from the first coming of Christ to the second coming of Christ (the sixth day of creation, or the sixth thousand years); the third – from the second coming of Christ and to the beginning of the Last Judgment (the seventh day of rest, or the seventh thousand years); the fourth – from the beginning of the Last Judgment and to infinity (the eighth day of Judgment and eternal rest, or eight thousand years). An important aspect of the eschatology of Victorinus prelate is its christological and soteriological aspects, that is, the Lord Jesus Christ takes part in human history in each of these eight millennia. In other words, the Savior not only created the world and the first people, but daily takes care of the crown of his creation – the human race. This can be traced in the disclosure of the theological terminology of the end of Victorinus of Poetovio.Eschatologia Wiktoryna z Petawium, jednego z przednicejskich chiliastów, jest ściśle związana z ideą ósmego dnia oraz z ideą ośmiu tysięcy lat historii świata i ludzkości. Według tej koncepcji czas istnienia wszechświata należy podzielić na cztery okresy: pierwszy – od stworzenia świata i pierwszych ludzi do pierwszego przyjścia Chrystusa na ziemię. To pierwsze pięć dni stworzenia, które odpowiadają czasokresowi pierwszych pięciu tysięcy lat; drugi – od pierwszego przyjścia Chrystusa do Jego drugiego przyjścia, co odpowiada szóstemu dniu stworzenia, czyli szóstemu tysiącleciu; trzeci – od drugiego przyjścia Chrystusa do początku Sądu Ostatecznego, co koresponduje z siódmym dniem odpoczynku, czyli z siódmym tysiącleciem; czwarty – od początku Sądu Ostatecznego ad infinitum, co oznacza, że okres ten obejmuje ósmy dzień (odpowiadający ósmemu tysiącleciu), będący dniem Sądu Ostatecznego oraz wiecznego odpoczynku. Ważnym rysem eschatologii Wiktoryna jest jej aspekt historyczno-soteriologiczny, co w jego interpretacji dziejów stworzenia oznacza, że Jezus Chrystus był i jest stale obecny w historii ludzkości, i to w każdym ze wspomnianych wyżej ośmiu tysiącleci. Innymi słowy, Zbawiciel nie tylko stworzył świat i pierwszych ludzi, lecz także codziennie dba o koronę swego stworzenia, którą jest rasa ludzka. Powyższe tezy można u Wiktoryna z Petawium prześledzić właśnie na bazie jego terminologii, odnoszącej się do czasów ostatecznych

Severe child form of primary hyperoxaluria type 2 - a case report revealing consequence of GRHPR deficiency on metabolism

Abstract Background Primary hyperoxaluria type 2 is a rare monogenic disorder inherited in an autosomal recessive pattern. It results from the absence of the enzyme glyoxylate reductase/hydroxypyruvate reductase (GRHPR). As a consequence of deficient enzyme activity, excessive amounts of oxalate and L-glycerate are excreted in the urine, and are a source for the formation of calcium oxalate stones that result in recurrent nephrolithiasis and less frequently nephrocalcinosis. Case presentation We report a case of a 10-month-old patient diagnosed with urolithiasis. Screening of inborn errors of metabolism, including the performance of GC/MS urine organic acid profiling and HPLC amino acid profiling, showed abnormalities, which suggested deficiency of GRHPR enzyme. Additional metabolic disturbances observed in the patient led us to seek other genetic determinants and the elucidation of these findings. Besides the elevated excretion of 3-OH-butyrate, adipic acid, which are typical marks of ketosis, other metabolites such as 3-aminoisobutyric acid, 3-hydroxyisobutyric acid, 3-hydroxypropionic acid and 2-ethyl-3-hydroxypropionic acids were observed in increased amounts in the urine. Direct sequencing of the GRHPR gene revealed novel mutation, described for the first time in this article c.454dup (p.Thr152Asnfs*39) in homozygous form. The frequent nucleotide variants were found in AGXT2 gene. Conclusions The study presents metabolomic and molecular-genetic findings in a patient with PH2. Mutation analysis broadens the allelic spectrum of the GRHPR gene to include a novel c.454dup mutation that causes the truncation of the GRHPR protein and loss of its two functional domains. We also evaluated whether nucleotide variants in the AGXT2 gene could influence the biochemical profile in PH2 and the overproduction of metabolites, especially in ketosis. We suppose that some metabolomic changes might be explained by the inhibition of the MMSADH enzyme by metabolites that increase as a consequence of GRHPR and AGXT2 enzyme deficiency. Several facts support an assumption that catabolic conditions in our patient could worsen the degree of hyperoxaluria and glyceric aciduria as a consequence of the elevated production of free amino acids and their intermediary products

An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia

Abstract Background Short-chain acyl-CoA dehydrogenase deficiency (SCADD) represents a rare autosomal recessive inborn metabolic disorder of mitochondrial β-oxidation of monocarboxylic acids. Clinical symptoms can vary from a severe life-threatening condition to an asymptomatic state, reported in the majority of cases. Since the expansion of newborn screenings, more than three hundred probands were admitted for molecular-genetic analysis, most selected because of elevated values of C4-acylcarnitine detected in newborn screenings in Slovakia. Searching for the principal genomic changes led us to the selection of sixty-two patients in whom the presence of sequence variants in the ACADS gene was analysed and correlated with the available biochemical and clinical data. Methods Biochemical and molecular genetic tests were performed. Acylcarnitine profiles focused on an elevated level of C4-acylcarnitine, which was analysed via tandem mass spectrometry. Urinary organic acids, specifically a quantity of ethylmalonic acid, were determined by gas chromatography/mass spectrometry. The entire coding region of the ACADS gene was sequenced. A low-cost restriction fragment length polymorphism of PCR amplified fragments analysis (PCR-RFLP) of pathogenic variants was introduced and implemented for the molecular-genetic algorithm appropriate for the Slovak population. Results Our molecular genetic study was performed on sixty-two patients with a pathological biochemical pattern related to short-chain acyl-CoA dehydrogenase deficiency. In this cohort, we discovered a high occurrence of two rare pathogenic variants—the deletion c.310_312delGAG and the substitution c.1138C>T, with allelic frequencies of 64% and 31%, respectively. Up to 86% of investigated individuals belong to the Roma ethnic group. Conclusions Analogous to other countries, SCADD is not included in the newborn screening programme. Based on the exceeded levels of the specific biomarker C4-acylcarnitine as well as ethylmalonic acid, we revealed a high prevalence of short-chain acyl-CoA dehydrogenase deficiency cases, confirmed by the findings of two rare pathogenic variants. A deletion c.310_312delGAG and c.1138C > T substitution in the ACADS gene appear with a high frequency in the Roma ethnic group of Slovakia. Due to the uncertainty of the pathogenicity and clinical consequences, it is important to follow up the morbidity and mortality in these patients over time and evaluate SCADD in relation to clinical outcomes and preventive healthcare recommendations