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Byline: V. Banasova, O. Horak, M. Nadubinska, M. Ciamporova, I. Lichtscheidl Thlaspi caerulescens is an important component of specific vegetation on mine wastes in Central Slovakia including those containing high soil concentrations of Zn, Pb and Cd in Banska Stiavnica and Cu in Spania Dolina. The population density of T. caerulescens varied in both metalliferous and non-metalliferous soils. Selective distribution of metals was observed in T. caerulescens: Cu and Pb remained in the roots while Zn and Cd were hyperaccumulated in leaves. In the leaves of plants growing on metalliferous soils maximum concentrations were 19410 mg/kg Zn and 80 mg/kg Cd dry matter and on non-metalliferous soils 16670 mg/kg Zn and 127 mg/kg Cd dry matter. Hyperaccumulation and selective uptake were also confirmed by leaf/soil bioconcentration factors with a maximum of 317 for Cd and 370 for Zn, versus 0.07 for Pb and 0.46 for Cu obtained from non-metalliferous habitats.

Abstract: Metal contaminated crops from contaminated soils are possible hazards for the food chain. The aim of this study was to find practical and cost-effective measures to reduce metal uptake in crops grown on metal contaminated soils near a former metal smelter in Austria. Metal-inefficient cultivars of crop plants commonly grown in the area were investigated in combination with in-situ soil amendments. A laboratory batch experiment using 15 potential amendments was used to select 5 amendments to treat contaminated soil in a pot study using two Barley (Hordeum vulgare L.) cultivars that differed in their ability to accumulate cadmium. Results from this experiment identified 3 of these amendments for use in a field trial. In the pot experiment a reduction in ammonium nitrate extractable Cd (<41%) and Pb (<49%) compared to the controls was measured, with a concurrent reduction of uptake into barley grain (Cd<62%, Pb<68%). In the field extractable fractions of Cd, Pb, and Zn were reduced by up to 96%, 99%, and 99%, respectively in amended soils. [Copyright &y& Elsevier]

In the last decade, undiagnosed disease programs have emerged to address the significant number of individuals with suspected but undiagnosed rare genetic diseases. In our single-center study, we have launched a pilot program for pediatric patients with undiagnosed diseases in the second-largest university hospital in the Czech Republic. This study was prospectively conducted at the Department of Pediatrics at University Hospital Brno between 2020 and 2023. A total of 58 Czech patients with undiagnosed diseases were enrolled in the study. All children underwent singleton WES with targeted phenotype-driven analysis. We identified 28 variants, including 11 pathogenic, 13 likely pathogenic, and 4 VUS according to ACMG guidelines, as diagnostic of genetic diseases in 25 patients, resulting in an overall diagnostic yield of 43%. Eleven variants were novel and had not been previously reported in any public database. The overall clinical utility (actionability) enabling at least one type of change in the medical care of the patient was 76%, whereas the average number of clinical implications to individual patient care was two. Singleton WES facilitated the diagnostic process in the Czech undiagnosed pediatric population. We believe it is an effective approach to enable appropriate counseling, surveillance, and personalized clinical management., Competing Interests: Declarations. Competing interests: The authors declare no competing interests. Ethics approval and consent to participate: The study was approved by the University Hospital Brno Ethics Committee (approvals no. 31-270420 and 12-071222), and informed consent was obtained from all participants or their legal representatives. The participants’ legal representatives provided written informed consent to participate in this study. Consent for publication: Informed consent to publish de-identified data was received from all participants and/or participants’ legal representatives who participated in the study., (© 2024. The Author(s).)

Purpose: To determine if Friedenwald's technique for estimating the coefficient of corneal rigidity (Ko, units mmHg/ μ L), could differentiate between the cornea in keratoconus, normal eyes, and after crosslinking (CXL)., Methods: Two operators (1 and 2) independently measured Ko in three groups (keratoconus, normal, and post-CXL corneas), and repeated the procedure in some where their care remained unchanged and others after routine CXL (>28 days postop, epi-off treatment, 3.0 mW/cm 2 , 30 min). The data were subsequently used to quantify interoperator error, test-retest/intersessional reliability for estimation of Ko, the significance of intergroup differences, and the effect of CXL on Ko., Results: The major findings were: (i) Ko values were not normally distributed; (ii) mean (±sd, 95% CI) interoperator error was -0.002 (±0.019, -0.006 to 0.003, n  = 95) and the limit of agreement between the operators was ±0.039; (iii) RMS differences in the intersessional estimation of Ko values were 0.011 (operator 1) and 0.012 (operator 2); (iv) intergroup differences in Ko were not significant ( p > 0.05); (v) intersessional change in Ko ( y ) was linearly related to Ko estimated ( x ) at 1 st session (for operator 2 y  = 1.187 x -0.021, r  = 0.755, n  = 16, p < 0.01); and (vi) change in Ko ( y 1 ) after CXL was linearly related to Ko ( x 1 ) at preop (for operator 2 y 1  = 0.880 x 1 -0.016, r  = 0.935, n  = 20, p < 0.01)., Conclusion: Friedenwald's technique for estimating the Ko is prone to substantial interoperator error and intersessional differences. According to the technique, the change in Ko following CXL is on par with the expected intersessional change observed in controls., Competing Interests: The authors declare that they have no conflicts of interest., (Copyright © 2022 Larysa Tutchenko et al.)

The lower airways of turtles consist of the larynx, trachea and bronchi. Due to incomplete information about the anatomical structure of the lower respiratory tract in turtles, we decided to explore this topic more deeply. The material for this study included 95 turtle cadavers. Terrestrial tortoises were represented by 63 individuals from 8 species, aquatic and semi-aquatic turtles by 32 individuals from 11 species. The sex ratio was 54 females to 41 males. In addition to the anatomical autopsies and assessments of the macroscopic structures, numerous measurements were performed. The length, width and height of the larynx and trachea, and the length of the bronchi were measured. We found clinical significance in two parameters. The first one is the formation of the  rima glottidis , which is significantly shorter and narrower in the aquatic turtles than in the terrestrial tortoises. It follows that for these species, we should use a smaller diameter of endotracheal cannula for intubation. The second parameter is a very short trachea in tortoises of the genus Testudo . The length of the trachea is only a few centimetres, which significantly increases the risk of intubation into one bronchus only., Competing Interests: The authors declare no conflict of interest., (Copyright: © 2022 Habova et al.)

with the Dravet's syndrome phenotype are associated with the detection of a sequence variant in the SCN1A gene (alpha 1 subunit of the voltage-gated sodium channel) (2). However, sequence variants in the SCN1A gene are associated with a very broad clinical spectrum, from asymptomatic carriers to the severe myoclonic epilepsy phenotype with severe disease (3).In the presented work, we retrospectively evaluated a group of 6 patients of the Department of Pediatric Neurology of the Medical Faculty of Masaryk University and the University Hospital in Brno with a proven missense mutation. Based on the specific pathogenic sequence variant, we correlated the patient's phenotype with the location of the sequence variant in the SCN1A gene. The aim of the analysis was to verify the extent, to which the storage of a pathogenic sequence variant in the SCN1A gene corresponds to the clinical picture of the patient (Tab. 2, Fig. 2, Ref. 10). Keywords: Dravet's syndrome, sodium channel, functional analysis, prognosis.

Purpose: To determine the significance of any association between either change in angle kappa (Κ°) or the rectilinear displacement (L, mm) of the first Purkinje image relative to the pupil center and unexpected changes in astigmatism after phacoemulsification., Methods: Orbscan II (Bausch and Lomb) measurements were taken at 1, 2, and 3 months after unremarkable phacoemulsification in patients implanted with spherical (group 1, SA60AT, Alcon) or aspheric (group 2, SN60WF, Alcon) nontoric IOLs. The outputs were used to calculate L. Astigmatism, measured by autorefractometry and subjective refraction, was subjected to vector analysis (polar and cartesian formats) to determine the actual change induced over the periods 1-2 and 2-3 months postop., Results: Chief findings were that the mean (n, ±SD, 95%CI) values for L over each period were as follows: Group 1, 0.407 (38, ±0.340, 0.299-0.521), 0.315 (23, ±0.184, 0.335-0.485); Group 2, 0.442 (45, ±0.423, 0.308-0.577), 0.372 (26, ±0.244, 0.335-0.485). Differences between groups were not significant. There was a significant linear relationship between (A) the change in Κ (ΔΚ = value at 1 month-value at 2 months) and Κ at 1 month (x), where ΔΚ =0.668-3.794X (r = 0.812, n = 38, P = <0.001) in group 1 and ΔΚ = 0.263x -1.462 (r = 0.494, n = 45, P = 0.002) in group 2, (B) L and the J 45 vector describing the actual change in astigmatism between 1 and 2 months in group 2, where J 45 (by autorefractometry) =0.287L-0.160 (r = 0.487, n = 38, P = 0.001) and J 45 (by subjective refraction) =0.281L-0.102 (r = 0.490, n = 38, P = 0.002), and (C) J 45 and ΔΚ between 2 and 3 months in group 2, where J 45 (by subjective refraction) =0.086ΔΚ-0.063 (r = 0.378, n = 26, P = 0.020)., Conclusion: Changes in the location of the first Purkinje image relative to the pupil center after phacoemulsification contributes to changes in refractive astigmatism. However, the relationship between the induced change in astigmatism resulting from a change in L is not straightforward., Competing Interests: None

The pseudometallophyte Rumex acetosella L. occupies habitats with normal and high soil concentrations of zinc (Zn), lead (Pb), and copper (Cu). It remains unclear if the plants respond to the toxic metals by altering their morphology and increasing the resilience of their cells. We compared plants growing on soils contaminated with Zn/Pb (populations Terézia, Lintich), or Cu (populations Špania Dolina, Staré Hory), with those from non-contaminated soil (Dúbravka) in Slovakia, and analysed leaf structure, physiology, and metal contents by light and electron microscopy, element localization by energy-dispersive X-ray analysis (EDX) in scanning electron microscope, and by specific fluorescence dyes. In control population, the epidermis of the amphistomatic leaves of R. acetosella contained capitate glandular trichomes, consisting of four head (secretory), two stalk, and two basal cells. The ultrastructure of secretory cells revealed fine wall ingrowths bordered by plasma membrane protruding into the cytoplasm. The metallicolous populations had higher contents of Zn and Cu in the epidermal and glandular cells, and a higher density of both stomata and trichomes. Extensive cell wall labyrinth was present in the trichome secretory cells. Their abnormal number and elevated metal contents might indicate effects of heavy metals, especially of Cu, on mitosis and cell plate formation. Differences in leaf physiology were indicated by significantly higher cytoplasmic tolerance to Zn and Cu in metallicolous populations and by structural properties of glandular heads suggesting secretion of toxic metals. Our findings are suggestive of plant reactions to metal stress, which facilitate the populations to occupy the metal-contaminated sites., (© 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH Austria, part of Springer Nature.)

Purpose: The aim of this study was to test a method for estimating corneal rigidity before and after cross-linking (CXL) using a Schiøtz tonometer., Methods: The study was performed in the Kyiv City Clinical Ophthalmological Hospital "Eye Microsurgical Center", Ukraine. This was a prospective, consecutive, randomized, masked, case-by-case, clinical study. Corneal rigidity, indicated by the gradient (G) between lg applied weight and corresponding lg scale reading during Schiøtz tonometry, were obtained by increasing (A-mode) then reducing (D-mode) weights by two operators [A] in keratoconus, post-CXL and control subjects for estimation of (i) interoperator and (ii) intersessional errors, (iii) intergroup differences; [B] before and after CXL. Central corneal thickness CCT was measured by scanning slit pachymetry. ANOVA, t tests, linear regression were the statistical tools used., Results: Average interoperator difference (ΔG) was -0.120 (SD = ±0.294, 95%CI = -0.175 to -0.066). A significant correlation between ΔG and the mean of each pair of G values was found (r = -0.196, n = 112, P = 0.038). Intersessional differences in mean G values were insignificant (P > 0.05). There was a significant correlation between G at first session (X 1 ) and difference between sessions (ΔG) [Operator 1, ΔG = 0.598x 1 -0.461, r = 0.601, n = 27, P = 0.009]. Significant intergroup differences in G were found (Operator 1, one-way ANOVA, F = 4.489, P = 0.014). The difference (Δ) between the pre-(X 2 ) and post-CXL treatment G values was significantly associated with the pre-CXL treatment value (Operator 1, Δ = 1.970x 2 -1.622, r = 0.642, n = 18, P = <.001). G values were correlated with CCT in keratoconus and post-CXL., Conclusion: Corneal rigidity (G) estimated using the Schiøtz tonometer can be useful for detecting changes after CXL. However, G values are linked to CCT, can vary from time-to-time and the procedure is operator dependent., Competing Interests: None

Purpose: The aim of this study was to determine the effect of routine uncomplicated phacoemulsification on the orthogonal distribution of mass within the central optical zone of the cornea., Methods: Astigmatism at both corneal surfaces was evaluated using Orbscan II (Bausch &and Lomb) before and up to 3 months after routine phacoemulsification (one eye/patient). The data were subjected to vector analysis to estimate the pre-and postoperative total astigmatism of the cornea (TCA)., Results: Reporting the chief findings in minus cylinder (diopters, DC) over the central 3 mm (A) and 5 mm (B) optical zones. Mean TCA powers (±sd) at pre- and 3-months postop were A) -4.45DC (±2.00) and -5.69DC (±2.69), B) -2.91DC (±2.22) and -2.71DC (±1.60). Change in mean power was significant over 3 mm (P < 0.01, n = 49) but not over 5 mm. Inter-zonal differences were significant (P < 0.01). There was a significant linear relationship between the change in TCA power (y = preoperative-postoperative) and TCA at preoperative stage (x) where, A) y = 0.45x + 3.12 (r = 0.336, n = 49, P = 0.018), B) y = x + 2.65 (r = 0.753, n = 49, P = <0.01). Over the central 3 mm zone only, change (preoperative-postoperative) in axis (°) of TCA (y 1 ) was significantly associated with TCA axis at preoperative stage (x 1 ) where y 1 = 1.391x 1 -0.008x 1 2 -0.701 (r = 0.635, n = 49, P < 0.01)., Conclusion: Changes in TCA power and axis at 3 months postop, determined using Orbscan II, are indicative of orthogonal alterations in the distribution of corneal tissue. Over the central 3 mm zone, the association between y 1 and x 1 shows that a change in TCA axis is more profound when preoperative axis is near 90° i.e., against-the-rule., Competing Interests: None

Objective: Clinical care of rare and complex epilepsies is challenging, because evidence-based treatment guidelines are scarce, the experience of many physicians is limited, and interdisciplinary treatment of comorbidities is required. The pathomechanisms of rare epilepsies are, however, increasingly understood, which potentially fosters novel targeted therapies. The objectives of our survey were to obtain an overview of the clinical practice in European tertiary epilepsy centers treating patients with 5 arbitrarily selected rare epilepsies and to get an estimate of potentially available patients for future studies., Methods: Members of the European Reference Network for rare and complex epilepsies ( EpiCARE) were invited to participate in a web-based survey on clinical practice of patients with Dravet syndrome, tuberous sclerosis complex (TSC), autoimmune encephalitis, and progressive myoclonic epilepsies including Unverricht Lundborg and Unverricht-like diseases. A consensus-based questionnaire was generated for each disease., Results: Twenty-six of 30 invited epilepsy centers participated. Cohorts were present in most responding centers for TSC (87%), Dravet syndrome (85%), and autoimmune encephalitis (71%). Patients with TSC and Dravet syndrome represented the largest cohorts in these centers. The antiseizure drug treatments were rather consistent across the centers especially with regard to Dravet syndrome, infantile spasms in TSC, and Unverricht Lundborg / Unverricht-like disease. Available, widely used targeted therapies included everolimus in TSC and immunosuppressive therapies in autoimmune encephalitis. Screening for comorbidities was routinely done, but specific treatment protocols were lacking in most centers., Significance: The survey summarizes the current clinical practice for selected rare epilepsies in tertiary European epilepsy centers and demonstrates consistency as well as heterogeneity in the treatment, underscoring the need for controlled trials and recommendations. The survey also provides estimates for potential participants of clinical trials recruited via EpiCARE, emphasizing the great potential of Reference Networks for future studies to evaluate new targeted therapies and to identify novel biomarkers., Competing Interests: Sameer M Zuberi has conducted randomized controlled trials for GW Pharma and Zogenix Ltd in patients with Dravet syndrome. He has participated in advisory boards for Zogenix, GW Pharma, Biocodex, and Encoded Genomics. Katarzyna Kotulska was supported by the 7th Framework Programme of European Commission within the Large‐scale Integrating Project EPISTOP (Proposal No: 602 391‐2; Proposal title: “Long term, prospective study evaluating clinical and molecular biomarkers of epileptogenesis in a genetic model of epilepsy – tuberous sclerosis complex”; www.EPISTOP.eu) and the Polish Ministerial funds for science (years 2014‐2018) for the implementation of international co‐financed project and the grant EPIMARKER of the Polish National Center for Research and Development No STRATEGMED3/306306/4/2016. All other authors have no conflict of interest related to this survey to disclose. We confirm that we have read the Journal's position on issues involved in ethical publication and affirm that this report is consistent with those guidelines., (© 2020 The Authors. Epilepsia Open published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.)

Purpose: To determine the significance of any association between intersessional changes in ocular residual astigmatism (RA) and astigmatism at corneal front (FSA) and back (BSA) surfaces following uneventful routine phacoemulsification., Methods: Astigmatism was evaluated by autorefractometry and subjective refraction and at both the corneal surfaces with Orbscan II™ (Bausch & Lomb) over central 3 mm and 5 mm optical zones at 1, 2, and 3 months after routine phacoemulsification in 103 patients implanted with monofocal nontoric intraocular lenses (IOLs, one eye/patient). Data were subjected to vector analysis to determine the actual change (Δ) in astigmatism (power and axis) for the refractive and Orbscan II findings., Results: The number of cases that attended where ΔRA was ≥0.50 DC between 1 and 2 months was 52 by autorefractometry and 36 by subjective refraction and between 2 and 3 months was 24 by autorefractometry and 19 by subjective refraction. Vector analysis revealed significant correlations between ΔFSA and ΔRA for data obtained by autorefractometry but not by subjective refraction. At all times, ΔBSA was greater than ΔFSA ( p < 0.01). Key findings for ΔBSA values over the central 3 mm zone were between (A) the sine of the axis of ΔRA ( y ) and sine of the axis of ΔBSA ( x ) for the data obtained by autorefractometry (between 1 and 2 months, y  = 0.749 - 0.303 x , r  = 0.299, n  = 52, p =0.031) and subjective refraction (between 2 and 3 months, y  = 0.6614 - 0.4755 x , r  = 0.474, n  = 19, p =0.040) and (B) ΔRA ( y ) and ΔBSA ( x ) powers between 2 and 3 months postoperatively for the data obtained by autorefractometry (ΔRA = 0.118 ΔBSA + 0.681 r  = 0.467, n  = 24, p =0.021) and subjective refraction (ΔRA = 0.072 ΔBSA + 0.545 r  = 0.510, n  = 19, p =0.026)., Conclusion: Changes in the ocular residual refractive astigmatic error after implanting a monofocal nontoric IOL are associated with changes in astigmatism at the back surface of the cornea within the central optical zone., Competing Interests: The authors declare that they have no conflicts of interest., (Copyright © 2020 Larysa Tutchenko et al.)

Purpose: To noninvasively estimate the refractive index (RI) of the central cornea along the antero-posterior direction before and after routine phacoemulsification., Methods: Using 2 setups for a standard optical pachymeter, the ratio of observed optical section widths (OSWs) is a function of the RI. Thus, the corneal RI could be estimated using a calibration equating OSW ratios with known RI values. The OSW was measured by 2 observers for 1) normal subjects for estimating interoperator errors and effects of sex and age on the RI and 2) before and after patients underwent routine phacoemulsification., Results: First, the average interoperator difference (ΔRI) was +0.0005 (SD = ±0.0044, 95% confidence limit, -0.0002 to +0.0012). The root mean square difference between measurements obtained by the observers was 0.0032. There was a significant correlation between the ΔRI and the mean of each pair of measured values (r = -0.172, n = 153, P = 0.003). The mean RI (±SD) was 1.435 (±0.005, n = 82) for females and 1.429 (±0.005, n = 71) for males. There was no significant between-sex difference or association between the RI and age (mean age, ±SD, and range, 44.31, 20.38, and 19-88 years, respectively). Second, the difference (y) between the preoperative (x) and postoperative RI was, y = 0.844x - 1.203 (r = 0.694, n = 31, P ≤ 0.001) according to observer 1 and according to observer 2, y = 0.755x - 1.108 (r = 0.681, n = 31, P ≤ 0.001)., Conclusions: The RI of the human cornea along the antero-posterior axis can be estimated using a modified application of traditional optical pachymetry. The average values for the corneal RI were higher compared with those reported in previous reports. The change in the RI after phacoemulsification could be predicted from the preoperative value.

Extensive contamination of grassland with cadmium (Cd), lead (Pb) and zinc (Zn) is a typical problem close to Pb/Zn smelter sites. The entry of Cd or Pb into the food chain is very likely, as are toxicity effects of Zn in plants. Previous promising results from pot and field experiments showed the high potential of using amendments for immobilisation to reduce metal input into the food chain via crops grown on smelter-contaminated soils at Arnoldstein (Austria) (Friesl et al., 2006). The aim of this study was to find a practical solution for large-scale contaminations in hilly regions that avoids erosion. Field application of amendments without destroying the vegetation cover (grassland) involved two approaches: (a) slurrying (Slu) the amendments into cut gaps in the vegetation cover and (b) injecting (Inj) the amendments through the vegetation cover. Here, we investigate the immobilising and long-term efficiency of treatments [gravel sludge (2.5%) + red mud (0.5%) (GS + RM)]. Risk assessment was based on soil, plant and water samples taken over a period of 10 years. Ammonium-nitrate-extractable Cd was reduced up to 50%, Pb up to 90%, and Zn over 90%. Plant uptake into the grass mixture and narrow leaf plantain was significantly reduced for Cd, Pb, and Zn. Harvesting early in vegetation period can further reduce uptake and meet the threshold for fodder crops. The reduction of these elements in the seepage water in 24 samplings within these 10 years reached 40%, 45% and 50%, respectively. Immobilisation increased microbial biomass and decreased human bioaccessibility for Pb. Our investigation of the long-term efficiency of GS + RM in all treatments shows that the Slu and Inj amendment application techniques have promising potential as a realistic and practical method for extensively contaminated hilly land. Slurrying performed best. We conclude that grassland remediation methods involving tillage are counterproductive from the viewpoint of bioaccessibility and soil protection and therefore should be avoided., (Copyright © 2016 Elsevier Ltd. All rights reserved.)

The potential use of micronucleus assays in plants for the detection of genotoxic effects of heavy-metal ions was investigated. Three different plant systems were comparatively investigated in micronucleus tests with Tradescantia pollen mother cells (Trad MCN) and micronucleus tests with meristematic root tip cells of Allium cepa and Vicia faba (Allium/ Vicia MCN). As3+, Pb2+, Cd2+, Zn2+ caused a dose-dependent increase of MCN frequencies in all three test systems. Cu2+ gave consistently negative responses in all three tests; Zn2+ caused only a moderate, statistically not significant increase of MCN frequencies in Vicia. The ranking of genotoxic potencies in all three tests was in the descending order: As3+ > Pb2+ > Cd2+ > Zn2+ Cu2+. In experiments with Tradescantia, induction of MCN was observed in a concentration range between 1 and 10 mM, whereas in tests with root tip cells, higher concentrations (10-1,000 mM) were required to show significant effects. Further increase of the exposure levels caused toxic effects (reduction of root growth), cell division delays, and a decrease of MCN frequencies. Comparisons by linear regression analyses indicated that the sensitivity of the three bioassays for heavy metals decreases in the order: Trad MCN > Vicia root MCN > Allium root MCN. In further experimental series, a soil sample which contained high concentrations of the five metals and a control soil were investigated. Aqueous soil extracts induced only weak effects in Trad MCN tests and no effects in the root tip assays, whereas cultivation of the plants in the soils resulted in a pronounced induction of MCN in the Tradescantia system and moderate effects in Vicia and Allium. In conclusion, the results of the study indicate that the Trad MCN assay detects the genotoxic effects of heavy metals and can be used for biomonitoring metal-contaminated soils.