12 research outputs found

    Validation of distinct pathogenic patterns in a cohort of membranoproliferative glomerulonephritis patients by cluster analysis

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    Background: A novel data-driven cluster analysis identified distinct pathogenic patterns in C3-glomerulopathies and immune complex-mediated membranoproliferative glomerulonephritis. Our aim was to replicate these observations in an independent cohort and elucidate disease pathophysiology with detailed analysis of functional complement markers. ----- Methods: A total of 92 patients with clinical, histological, complement and genetic data were involved in the study, and hierarchical cluster analysis was done by Ward method, where four clusters were generated. ----- Results: High levels of sC5b-9 (soluble membrane attack complex), low serum C3 levels and young age at onset (13 years) were characteristic for Cluster 1 with a high prevalence of likely pathogenic variations (LPVs) and C3 nephritic factor, whereas for Cluster 2-which is not reliable because of the small number of cases-strong immunoglobulin G staining, low C3 levels and high prevalence of nephritic syndrome at disease onset were observed. Low plasma sC5b-9 levels, decreased C3 levels and high prevalence of LPV and sclerotic glomeruli were present in Cluster 3, and patients with late onset of the disease (median: 39.5 years) and near-normal C3 levels in Cluster 4. A significant difference was observed in the incidence of end-stage renal disease during follow-up between the different clusters. Patients in Clusters 3-4 had worse renal survival than patients in Clusters 1-2. ----- Conclusions: Our results confirm the main findings of the original cluster analysis and indicate that the observed, distinct pathogenic patterns are replicated in our cohort. Further investigations are necessary to analyse the distinct biological and pathogenic processes in these patient groups

    C4 nephritic factor in patients with immune-complex-mediated membranoproliferative glomerulonephritis and C3-glomerulopathy

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    Educative possibilities on flowers and fruits morphology in examples of important plant species

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    The diploma thesis follows up on the issues addressed in the bachelor's thesis. It focuses on the possibilities of teaching the morphological structures of flowers and fruits of flowering plants. The results are transformed into a form that can be used effectively in teaching. The work contains several teaching materials. Specifically, two chapters which introduce teaching presentations and worksheets on the topic of Flower and Fruit

    Flowers and fruits of important plant species - materials for teaching at elementary schools

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    Sládková E.: Flowerage and fruits of significant plant species basics for teaching at primary school. Bachelor thesis, 2017 Bachelor thesis is aimed for knowledge of pupil of the 8th classes concerning flowerage and fruits, which pupils learned half year ago. Next part of this thesis is about approach of pupils to botany. Thesis includes evaluation of the test and guestionnaire. Next part of the thesis is also analysis of the properties of the four textbooks, which are most often used in the teaching of higher plants. The results are for the better clarity shown by column graph and doughnut chart. Leader of Bachelor thesis: RNDr. Božena Šerá, Ph.D. Department of biology PF JU, České Budějovic

    The measurement of the economic value of design in different industries: A case study

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    This article describes the measurement of design value in the context of different industries. The aim is to understand the impact design has on the length of the entrepreneurship through the exploration of case studies. There are many factors and indicators that could be influenced by design application in real processes, such as performance of the company in the context of increased competitiveness, increased turnover, market share, brand value growth, and other economic indicators. This article focuses mainly on profit-oriented factors and the possible direct impact of a design implementation. The collections of qualitative data for system-dynamic models were carried out through personal interviews; then, the data were analyzed and compared. The originality of the case studies lies primarily in the application of new design value measurement methodology based on the Design Value Index (DVI) for measuring design potential in combination with the Design Value Algorithm (DVA) for the prediction of the benefits of design implementation in the analyzed Small and Medium-sized Enterprises (SMEs). © 2021 Common Ground Research Networks, Jitka Sládková, Jiří Urbánek, Eva Šviráková, Jan Kramoliš, David Král, All Rights Reserved.Technology Agency of the Czech Republic, TAC

    Effects of subclinical Eimeria tenella infection on Pectoralis major muscle in broiler chickens

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    The aim of this study was to evaluate changes in the histological characteristics of the pectoralis major (PM) muscle in chickens as well as histological changes in the caecum after a low dose of Eimeria tenella (E. tenella). The chickens were inoculated orally with 5 × 102 E. tenella oocysts (Gr1) and 1 × 103 E. tenella oocysts (Gr2) at 16 days of age. Six chickens from each group were sacrificed for post mortem examination at 9 days post-infection (pi) and 16 days pi. Chicken growth was not affected by infection. On the 9th day of infection, caecal villus height was significantly greater in the non-infected control group. However, infected chickens from group Gr1 sacrificed seven days later had an even greater caecal villus height than those of the control (p =.001). Both infected groups had higher PM weights at 16 days pi than did the control group (p = .001). The fibre cross-sectional area was smaller in Gr2 at 9 days pi; however, this parameter was larger in these chickens at 16 days pi. The pH value of PM of group Gr2 was significantly higher than that of the control group or group Gr1 at 16 days pi (p = .020)

    Targeted long-read sequencing identified a causal structural variant in X-linked nephrogenic diabetes insipidus

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    Abstract Background X-linked nephrogenic diabetes insipidus (NDI) is a rare genetic renal disease caused by pathogenic variants in the AVPR2 gene. Single nucleotide variants and small insertions/deletions in AVPR2 are reliably detected by routine clinical sequencing. Nevertheless, structural variants involving AVPR2 are challenging to identify accurately by conventional genetic testing. Here, we report a novel deletion of AVPR2 in a Czech family identified for the first time by targeted long-read sequencing (T-LRS). Methods A male proband with X-linked NDI underwent clinical sequencing of the AVPR2 gene that failed and thus indicated possible whole-gene deletion. Therefore, PCR mapping and subsequent targeted long-read sequencing (T-LRS) using a Pacific Biosciences sequencer were applied to search for the suspected deletion. To validate the deletion breakpoints and prove variant segregation in the family with X-linked NDI, Sanger sequencing of the deletion junction was performed. Quantitative real-time PCR was further carried out to confirm the carrier status of heterozygous females. Results By T-LRS, a novel 7.5 kb deletion of AVPR2 causing X-linked NDI in the proband was precisely identified. Sanger sequencing of the deletion junction confirmed the variant breakpoints and detected the deletion in the probands´ mother, maternal aunt, and maternal cousin with X-linked NDI. The carrier status in heterozygous females was further validated by quantitative real-time PCR. Conclusions Identifying the 7.5 kb deletion gave a precise molecular diagnosis for the proband, enabled genetic counselling and genetic testing for the family, and further expanded the spectrum of structural variants causing X-linked NDI. Our results also show that T-LRS has significant potential for accurately identifying putative structural variants
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