We report the molecular-phylogenetic identification of larvae of the nematode genus Gnathostoma Owen, 1836 collected from a snake, Ptyas koros Schlegel, in Laos and adult worms from the stomach of a dog in Thailand. DNA was extracted and amplified targeting the partial cox1 gene and the ITS-2 region of ribosomal DNA. Phylogenetic analyses indicated that all five advanced third-stage larvae and seven adult worms were Gnathostoma spinigerum Owen, 1836. This is also the first molecular evidence of infection with G. spinigerum in a snake from Laos., Jurairat Jongthawin, Pewpan M. Intapan, Oranuch Sanpool, Penchom Janwan, Lakkhana Sadaow, Tongjit Thanchomnang, Sakhone Laymanivong, Wanchai Maleewong., and Obsahuje bibliografii
Summary The aim of the study was to characterize by molecular profiling two glomerular diseases: IgA nephropathy (IgAN) and focal segmental glomerulosclerosis (FSGS) and to identify potential molecular markers of IgAN and FSGS progression. The expressions of 90 immune-related genes were compared in biopsies of patients with IgAN (n=33), FSGS (n=17) and in controls (n=11) using RT-qPCR. To identify markers of disease progression, gene expression was compared between progressors and non-progressors in 1 year follow-up. The results were verified on validation cohort of patients with IgAN (n=8) and in controls (n=6) using laser-capture microdissection, that enables to analyze gene expression separately for glomeruli and interstitium. In comparison to controls, patients with both IgAN and FSGS, had lower expression of BAX (apoptotic molecule BCL2-associated protein) and HMOX-1 (heme oxygenase 1) and higher expression of SELP (selectin P). Furthermore, in IgAN higher expression of PTPRC (protein-tyrosine phosphatase, receptor-type C) and in FSGS higher expression of BCL2L1 (regulator of apoptosis BCL2-like 1) and IL18 compared to control was observed. Validation of differentially expressed genes between IgAN and controls on another cohort using laser-capture microdissection confirmed higher expression of PTPRC in glomeruli of patients with IgAN. The risk of progression in IgAN was associated with higher expression EDN1 (endothelin 1) (AUC=0.77) and FASLG (Fas ligand) (AUC=0.82) and lower expression of VEGF (vascular endothelial growth factor) (AUC=0.8) and in FSGS with lower expression of CCL19 (chemokine (C-C motif) ligand 19) (AUC=0.86). Higher expression of EDN1 and FASLG along with lower expression of VEGF in IgAN and lower expression of CCL19 in FSGS at the time of biopsy can help to identify patients at risk of future disease progression., I. Tycová, P. Hrubá, D. Maixnerová, E. Girmanová, P. Mrázová, L. Straňavová, R. Zachoval, M. Merta, J. Slatinská, M. Kollár, E. Honsová, V. Tesař, O. Viklický., and Seznam literatury
Migratory birds have an important role in transporting ticks and associated tick-borne pathogens over long distances. In this study, 2,793 migratory birds were captured by nets in a ringing station, located in northern Italy, and checked for the presence of ticks. Two-hundred and fifty-one ticks were identified as nymphs and larvae of Ixodes ricinus (Linnaeus, 1758) and they were PCR-screened for the presence of bacteria belonging to Borrelia burgdorferi sensu lato, Rickettsia spp., Francisella tularensis and Coxiella burnetii. Four species of Borrelia (B. garinii, B. afzelii, B. valaisiana and B. lusitaniae) and three species of Rickettsia (R. monacensis, R. helvetica and Candidatus Rickettsia mendelii) were detected in 74 (30%) and 25 (10%) respectively out of 251 ticks examined. Co-infection with Borrelia spp. and Rickettsia spp. in the same tick sample was encountered in 7 (7%) out of the 99 infected ticks. We report for the first time the presence of Candidatus Rickettsia mendelii in I. ricinus collected on birds in Italy. This study, besides confirming the role of birds in dispersal of I. ricinus, highlights an important route by which tick-borne pathogens might spread across different countries and from natural environments towards urbanised areas., Massimo Pajoro, Dario Pistone, Ilaria Varotto Boccazzi, Valeria Mereghetti, Claudio Bandi, Massimo Fabbi, Francesco Scattorin, Davide Sassera, Matteo Montagna., and Obsahuje bibliografii
Purinergic P2X receptors represent a novel structural type of ligand-gated ion channels activated by extracellular ATP. So far, seven P2X receptors subunits have been found in excitable as well as non-excitable tissues. Little is known about their structure, mechanism of channel opening, localization, and role in the central nervous system. The aim of this work is to summarize recent investigations and describe our contribution to elucidating the structure of the ATP binding site and transmembrane domains of the P2X receptor, we also discuss the expression and physiological roles played by the ATP and P2X receptors in the anterior pituitary and hypothalamus., H. Zemková, A. Balík, M. Jindřichová, V. Vávra., and Obsahuje bibliografii a bibliografické odkazy
The Sympetrum vulgatum (Linnaeus, 1758) complex is composed of the subspecies S. vulgatum vulgatum, S. vulgatum decoloratum (Selys, 1884) and S. vulgatum ibericum Ocharan, 1985 in the West Palaearctic. These taxa have parapatric distributions and noticeable morphological differences in colour and body size, and their taxonomic status is debated. Here we revise the systematics of this group using molecular taxonomy, including molecular analyses of mitochondrial (cytochrome c oxidase subunit I, COI) and nuclear (internal transcribed spacer, ITS1) DNA taking into account known morphological differences. Each subspecies has a unique and differentiated COI haplotype, although divergences among them are low (0.4% maximum uncorrected p-distance). The subspecies are not differentiated by the nuclear marker ITS1. The genetic results for these taxa contrast with the deep divergence of the sister species S. striolatum (Charpentier, 1840). Given current evidence, we propose to maintain the subspecific status of the S. vulgatum complex and hypothesize their biogeographical history. It is likely that the three subspecies became isolated during one of the latest glacial periods, each in a different refugium: S. vulgatum ibericum possibly occupied the Iberian Peninsula, S. vulgatum vulgatum the Balkan Peninsula or territories further east and S. vulgatum decoloratum Anatolia., Joan C. Hinojosa, Ricard Martín, Xavier Maynou, Roger Vila., and Obsahuje bibliografii
Cieľ: Cieľom našej práce bolo identifikovať kauzatívne germinálne mutácie u suspektných NF1 pacientov za účelom diferenciálnej diagnostiky a zozbieranie čo najväčšieho súboru pacientov pre prípadné genotypovo-fenotypové korelácie. Súbor a metodika: Náš súbor pozostával zo 107 nezávislych pacientov zo Slovenska, ktorý boli v období rokov 2008-2013 klinickými genetikmi posúdení ako suspektní pre NF1. Na identifikáciu mutácií bolo použité sekvenovanie cDNA NF1 génu, ktoré nám umožnilo úspešnú identifikáciu zostrihových mutácií, ako aj MLPA analýza umožňujúca identifikáciu rozsiahlejších delécií v géne. Výsledky: V súbore 94 nepríbuzných slovenských pacientov, ktorí spĺňali základné diagnostické kritériá pre neurofibromatózu, sme za použitia našich metód identifikovali germinálne mutácie v NF1 géne u 83 z nich (88,3 %). Zaznamenali sme vysoký podiel mutácií, ktoré boli zatiaľ identifikované len v slovenskej populácii (41/83, 49,4 %), a u 27/42 testovaných rodinách sme potvrdili mutáciu de novo (64,3 %). Genotypovo-fenotypové korelácie odhalili zvýšený výskyt očných gliómov u pacientov s mutáciou na 5’ konci NF1 génu. Závery: Kombinácia cDNA analýzy a MLPA je efektívnou pre identifikáciu mutácií v NF1 géne. Na základe tejto diagnostickej metódy sme odhalili aj často nesprávne klasifikované netypické zostrihové mutácie. Naše výsledky využili klinickí genetici pri diferenciálnej diagnostike ochorenia, hlavne v sporných prípadoch. Kľúčová slová: NF1 gén – kauzatívna germinálna mutácia – RNA zostrih – genotypovo-fenotypové korelácie – de novo mutácie –diferenciálna diagnostika, Aim: The aim of our study was to identify causative germline mutation in suspected NF1 patients, in order to help differential diagnostics, as well as to collect as large as possible group of patients for a possible genotype-phenotype correlations. Material and methods: Our set of patients consisted of 107 Slovak patients, recruited between 2008 and 2013, who were considered for a diagnosis NF1 by clinical genetics. In order to identify mutations, we employed NF1 cDNA sequencing that enabled us to also detect splicing mutations, as well as MLPA analysis that enables identification of larger deletions. Results: By employing the selected methods in our set of 94 unrelated Slovak patients who fulfilled the basic NF1 diagnostic criteria, we uncovered germline mutations in the NF1gene in 83 of them (88.3%). We observed a high proportion of mutations identified in Slovak population only so far (41/83, 49.4%), and we confirmed de novo mutation in 27/42 tested families (64.3%). Genotype-phenotype correlations revealed an increased incidence of optic pathway glioma in patients with a mutation in the 5´end of the NF1 gene. Conclusion: Combination of cDNA analysis and MLPA provides an effective method for identification of mutations in the NF1 gene. By employing these methods, we were able to also identify frequently incorrectly classified atypical splicing mutations. Clinical geneticists used our results in the differential diagnosis of the disease, especially in contested cases. Key words: NF1 gene – causative germline mutation – RNA splicing – genotype-phenotype correlation – de novo mutations –differential diagnostics The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study. The Editorial Board declares that the manuscript met the ICMJE “uniform requirements” for biomedical papers., and M. Némethová, A. Bolčeková, S. Požgayová, D. Ilenčíková, A. Hlavatá, R. Kádaši, L. Kovácz, A. Zaťková
Vznik a progrese plicních karcinomů je stejně jako u ostatních solidních nádorů provázena celou řadou poruch (mutací) genomu. Tyto často charakteristické poruchy představují molekulární markery a jejich vyšetřování se stalo dnes již neodmyslitelnou součástí diagnosticko-terapeutického procesu. Doplnění klasické histopatologické klasifikace založené na morfologii o informaci o molekulárním profilu se stává zcela klíčovým nástrojem pro predikci úspěšnosti protinádorové léčby i odhadu prognózy onkologických pacientů. Novým směrem v moderní patologické diagnostice je metoda tzv. tekuté biopsie, neboli vyšetřování nádorových buněk a nádorové DNA uvolněných do periferního oběhu pacienta., As in other solid tumours, the development and progression of lung cancer is accompanied by a whole number of genome disorders (mutations). These often characteristic disorders represent molecular markers and their investigation has now become an inseparable part of the diagnostic-therapeutic process. Supplementing the conventional morphology-based histopathological classification with information on the molecular profile is becoming a completely crucial tool for predicting the success rate of anticancer treatment as well as estimating the prognosis of cancer patients. A new trend in modern pathological diagnosis is the method of so-called liquid biopsy, or the investigation of cancer cells and tumour DNA released into the patient’s peripheral circulation., Marek Minárik, and Literatura
A collaborative group between Greek, Polish, and Sl ovak colleagues installed a dense network of non-permanent GPS stations and extensometers to monitor active faults in the eastern part of the Gulf of Corinth, central Greece. The network includes eleven GPS stations across the Kaparelli fault and the Asopos rift valley to the east and two TM-71 extensometers that were installed on the Kaparelli fault plane. So far the G PS network has been measured in three campaigns within the last three years with very good accuracies (1-4 mm in the horizontal plane). Although it is early to draw conclusions on the velocity field and on strain patterns it can be noted that, the data from the extensometers demonstrate both fault-normal opening and shear motion. Given that the total offset on the Ka parelli fault is small, and the geological data suggesting a segmented character of this fault, we expect in the near fu ture to differentiate fault slip and strain accumulation among segments., Athanassios Ganas, Jaroslaw Bosy, Lubomir Petro, George Drakatos, Bernard Kontny, Marian Stercz, Nikolaos S. Melis, Stefan Cacon and Anastasia Kiratzi., and Obsahuje bibliografické odkazy
The medieval Jeroným Mine is a mine working in which places of various degrees of rock mass disintegration are there. Time-lapse recording, which has been performed in the Jeroným Mine since the year 2009, was induced by a necessity of documenting both areas of flaking-off and caved areas owing to an increased rate of occurrence of flaking-off phenomena in mine workings - rooms K3 and K4 of this mine. The methodology of recording, which uses as a basis repeated recording in time in the framework of geotechnical measurements carried out quarterly, is based on the principle of maintenance of not only parameters of images themselves, but also of location of a photo device used for documentation provision. This process is followed by the creation of information sheets of areas of flaking-off and caved areas and their classification. The method of recording was used owing to a high degree of disintegration of the rock mass in selected mine workings, a possibility of extension of caved areas and also the high rate of occurrence of subsidence phenomena occurring above those workings and even sporadically reaching the mine workings. Time-lapse recording is thus performed primarily in mine workings with reduced stability, situated very close to the surface. With regard to the principle of this method, results will be known only in further years., Radovan Kukutsch, Petr Žůrek and Martin Stolárik., and Obsahuje bibliografii
Autoři ve svém příspěvku uvádějí výsledky úkolu hlavního hygienika "Monitoring nabídky stravování v základních školách". Cílem úkolu byl monitoring nabídky možnosti stravování, jeho pestrost a dostupnost žákům České republiky v základních školách. Sběr dat byl proveden v 493 základních školách v celé České republice pomocí řízených dotazníků a to na prvním i druhém stupni ZŠ. Z výsledků dotazníkového šetření vyplývá, že sortiment nápojů a pokrmů, které děti během školního vyučování získávají, může být jedním z faktorů narůstající dětské obezity. Nabídka je problematická především v oblasti doplňkového prodeje, kde mají žáci přístup nejčastěji k potravinám s vysokým obsahem cukru. Naopak vlastní školní stravování se ukazuje jako poměrně vyhovující hlediskům zdravé výživy. Pro zlepšení a ozdravění školního stravování bude nutné vyvolat širokou diskusi se všemi, kteří jeho nabídku ovlivňují a zamezit tak rozvoji nadměrné tělesné hmotnosti žáků v České republice., Presented are results of the task of the Chief Public Health Officer (hygienist) of the Czech Republic "The monitoring of food offer in primary schools". The aim of this task was the monitoring of catering, its variability and availability for the pupils of primary schools in the Czech Republic. The data were collected using questionnaires in 493 primary schools in the whole Czech Republic. The results of the questioning show that the offer of drinks and food, which children get in the school, can be one of the factors causing the increase of child obesity. The offer is problematic especially in the supplementary sale, in which the children can buy mostly high of sugar content food. On the other hand the food offer in school canteens generally fulfils the standards of healthy diet. For the improvement of catering in primary schools, it will be necessary to stimulate a debate with everybody, who can affect the food offer; thus, stop the increase of child overweight and obesity in the Czech Republic., Jana Pilnáčková, Matouš Pilnáček, Jarmila Rážová, Hana Střítecká, and Literatura