53 research outputs found

    Clinoptilolite in Drinking Water Treatment for Ammonia Removal

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    In most countries today the removal of ammonium ions from drinking water has become almost a necessity. The natural zeolite clinoptiloliteis mined commercially in many parts of the world. It is a selective exchanger for the ammonium cation, and this has prompted its use in water treatment, wastewater treatment, swimming pools and fish farming. The work described in this paper provides dynamic data on cation exchange processes in clinoptilolite involving the NH4 +, Ca+2 and Mg+2 cations. We used material of natural origin – clinoptilolite from Nižný Hrabovec in Slovakia (particle-size 3–5 mm). The breakthrough capacity was determined by dynamic laboratory investigations, and we investigated the influence of thermal pretreatment of clinoptilolite and the concentration of regenerant solution (2, 5, and 10% NaCl). The concentrations of ammonium ion inputs in the tap water that we used were 10, 5, and 2 mg NH4 + l_1 and down to levels below 0.5 mg NH4 + l_1. The experimental results show that repeated pretreatment sufficiently improves the zeolite’s properties, and the structure of clinoptilolite remains unchanged during the loading and regeneration cycles. Ammonium removal capacities were increased by approximately 40 % and 20 % for heat-treated zeolite samples. There was no difference between the regenerates for 10% and 5% NaCl. We conclude that the use of zeolite is an attractive and promising method for ammonium removal

    Lewatit S100 in Drinking Water Treatment for Ammonia Removal

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    Ammonium nitrogen is the most important form of nitrogen that can cause excessive algal growth and stimulate eutrophication in surface water. The purpose of this study is to investigate the possibility of removing ammonium from drinking water by means of an ion Exchange process. Polymeric Lewatit S100 material (particle-size 0.3–1.2 mm) was used. The breakthrough capacity was determined by dynamic laboratory investigations and the concentration of regenerant solution (5 and 10 % NaCl) was investigated. The concentration of ammonium ion inputs in the tap water that we used were 10, 5 and 2 mg NH4+ l_1 and down to levels below 0.5 mg NH4 + l_1. The experimental results show that the breakthrough capacity was very small at ammonium concentration 2 mg NH4 + l_1 compared to its breakthrough capacity at ammonium concentration 10 mg NH4 + l_1. There was no difference between regeneration by 10 and 5 % NaCl. We conclude that the use of Lewatit S100 is an attractive and promising method for ammonium concentration greater than 5 mg NH4 + l_1 and till 10 mg NH4 + l_1

    Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5

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    Background and Objectives KCNH5 encodes the voltage-gated potassium channel EAG2/Kv10.2. We aimed to delineate the neurodevelopmental and epilepsy phenotypic spectrum associated with de novo KCNH5 variants.Methods We screened 893 individuals with developmental and epileptic encephalopathies for KCNH5 variants using targeted or exome sequencing. Additional individuals with KCNH5 variants were identified through an international collaboration. Clinical history, EEG, and imaging data were analyzed; seizure types and epilepsy syndromes were classified. We included 3 previously published individuals including additional phenotypic details.Results We report a cohort of 17 patients, including 9 with a recurrent de novo missense variant p.Arg327His, 4 with a recurrent missense variant p.Arg333His, and 4 additional novel missense variants. All variants were located in or near the functionally critical voltage-sensing or pore domains, absent in the general population, and classified as pathogenic or likely pathogenic using the American College of Medical Genetics and Genomics criteria. All individuals presented with epilepsy with a median seizure onset at 6 months. They had a wide range of seizure types, including focal and generalized seizures. Cognitive outcomes ranged from normal intellect to profound impairment. Individuals with the recurrent p.Arg333His variant had a self-limited drug-responsive focal or generalized epilepsy and normal intellect, whereas the recurrent p.Arg327His variant was associated with infantile-onset DEE. Two individuals with variants in the pore domain were more severely affected, with a neonatal-onset movement disorder, early-infantile DEE, profound disability, and childhood death.Discussion We describe a cohort of 17 individuals with pathogenic or likely pathogenic missense variants in the voltage-sensing and pore domains of Kv10.2, including 14 previously unreported individuals. We present evidence for a putative emerging genotype-phenotype correlation with a spectrum of epilepsy and cognitive outcomes. Overall, we expand the role of EAG proteins in human disease and establish KCNH5 as implicated in a spectrum of neurodevelopmental disorders and epilepsy.</p

    Occupational asthma follow-up — which markers are elevated in exhaled breath condensate and plasma?

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    Objectives: To search for optimal markers in the exhaled breath condensate (EBC), plasma and urine that would reflect the activity/ severity of occupational asthma (OA) after the withdrawal from the exposure to the allergen. Material and Methods: Markers of oxidative stress: 8-iso-prostaglandin F2α (8-isoprostane, 8-ISO), malondialdehyde (MDA), 4-hydroxy-trans-2-nonenale (HNE), cysteinyl leukotrienes (LT) and LTB4 were determined using liquid chromatography and mass spectrometry in 43 subjects with immunological OA (49.3±11.8 years), removed from the exposure to the sensitizing agent 10.5±6.5 years ago; and in 20 healthy subjects (49.0±14.9 years). EBC was harvested both before and after the methacholine challenge test. In parallel, identical markers were collected in plasma and urine. The results were analyzed together with forced expiratory volume in one second (FEV1), blood eosinophils, immunoglobulin E (IgE) and eosinophilic cationic protein (ECP) and statistically evaluated (Spearman rank correlation rS, two- or one-sample t tests and alternatively Kruskal Wallis or pair Wilcoxon tests). Results: Several parameters of lung functions were lower in the patients (FEV1% predicted, MEF25% and MEF50%, Rtot%, p < 0.001). Shorter time interval since the removal from the allergen exposure correlated with higher ECP (rS = 0.375) and lower FEV1%, MEF25% and MEF50% after methacholine challenge (rS = -0.404, -0.425 and -0.532, respectively). In the patients, IgE (p < 0.001) and ECP (p = 0.009) was increased compared to controls. In EBC, 8-ISO and cysteinyl LTs were elevated in the asthmatics initially and after the challenge. Initial 8-ISO in plasma correlated negatively with FEV1 (rS = -0.409) and with methacholine PD20 (rS = -0.474). 8-ISO in plasma after the challenge correlated with IgE (rS = 0.396). Conclusions: The improvement in OA is very slow and objective impairments persist years after removal from the exposure. Cysteinyl LTs and 8-ISO in EBC and 8-ISO in plasma might enrich the spectrum of useful objective tests for the follow-up of OA

    Ultra-Rare Genetic Variation in the Epilepsies : A Whole-Exome Sequencing Study of 17,606 Individuals

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    Sequencing-based studies have identified novel risk genes associated with severe epilepsies and revealed an excess of rare deleterious variation in less-severe forms of epilepsy. To identify the shared and distinct ultra-rare genetic risk factors for different types of epilepsies, we performed a whole-exome sequencing (WES) analysis of 9,170 epilepsy-affected individuals and 8,436 controls of European ancestry. We focused on three phenotypic groups: severe developmental and epileptic encephalopathies (DEEs), genetic generalized epilepsy (GGE), and non-acquired focal epilepsy (NAFE). We observed that compared to controls, individuals with any type of epilepsy carried an excess of ultra-rare, deleterious variants in constrained genes and in genes previously associated with epilepsy; we saw the strongest enrichment in individuals with DEEs and the least strong in individuals with NAFE. Moreover, we found that inhibitory GABA(A) receptor genes were enriched for missense variants across all three classes of epilepsy, whereas no enrichment was seen in excitatory receptor genes. The larger gene groups for the GABAergic pathway or cation channels also showed a significant mutational burden in DEEs and GGE. Although no single gene surpassed exome-wide significance among individuals with GGE or NAFE, highly constrained genes and genes encoding ion channels were among the lead associations; such genes included CACNAIG, EEF1A2, and GABRG2 for GGE and LGI1, TRIM3, and GABRG2 for NAFE. Our study, the largest epilepsy WES study to date, confirms a convergence in the genetics of severe and less-severe epilepsies associated with ultra-rare coding variation, and it highlights a ubiquitous role for GABAergic inhibition in epilepsy etiology.Peer reviewe

    The Human Phenotype Ontology in 2024: phenotypes around the world.

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    The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively organizes and defines the phenotypic features of human disease, enabling computational inference and supporting genomic and phenotypic analyses through semantic similarity and machine learning algorithms. The HPO has widespread applications in clinical diagnostics and translational research, including genomic diagnostics, gene-disease discovery, and cohort analytics. In recent years, groups around the world have developed translations of the HPO from English to other languages, and the HPO browser has been internationalized, allowing users to view HPO term labels and in many cases synonyms and definitions in ten languages in addition to English. Since our last report, a total of 2239 new HPO terms and 49235 new HPO annotations were developed, many in collaboration with external groups in the fields of psychiatry, arthrogryposis, immunology and cardiology. The Medical Action Ontology (MAxO) is a new effort to model treatments and other measures taken for clinical management. Finally, the HPO consortium is contributing to efforts to integrate the HPO and the GA4GH Phenopacket Schema into electronic health records (EHRs) with the goal of more standardized and computable integration of rare disease data in EHRs

    Use of learning strategies by students of eight-year and four-year grammar school

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    V České republice je od 90. let 20. století vedena diskuse o rozdílech, pozitivních přínosech a negativech vzdělávání na znovu zavedených víceletých gymnázií oproti základním školám a s tím související diskuse o rozdílech vzdělávání na čtyřletých a osmiletých gymnáziích. Na specifickém tématu používání strategií učení cizímu jazyku bylo na 13 brněnských gymnáziích zjišťováno, zda se studenti navštěvující osmiletý a čtyřletý vzdělávací program gymnázia liší v používání strategií a ve vybraných proměnných, které používání strategií ovlivňují nebo s ním souvisejí, jako jsou motivace, počet jazyků, které se student učí, nebo sebepojetí v oblasti učení. Dále v proměnných, které jsou používáním strategií ovlivňovány, jako jsou známka, znalost jazyka nebo míra rozvoje řečových dovedností. Systematické rozdíly mezi osmiletými a čtyřletými gymnázii nebyly nalezeny. Objevovaly se pouze rozdíly mezi jednotlivými školami a určité rozdíly v používání dílčích strategií. Studenti osmiletého gymnázia oproti studentům čtyřletého gymnázia nedosahovali vyšší úrovně v oblasti osvojení strategií učení jako částí kompetence k učení, která představuje jeden z očekávaných vzdělávacích výsledků gymnaziálního vzdělávání.After the fall of communism in 1989, there were newly reestablished the eight-year grammar schools, e. g. schools combining both lower and upper secondary comprehensive education and preparing students for higher academic education. Since this change, there has been a continuous discussion on the pros and cons of the eight-year grammar schools and lower secondary level of elementary schools as well as of the eight-year grammar schools in comparison to the four-year grammar schools. The four-year grammar school was the only type of comprehensive higher secondary school in the era of Communism and it still exists nowadays. A specific research on the learning strategies as a part of the competency to learn a foreign language (as stated in the Framework Education Programme for Grammar Schools 2007) was conducted at 13 grammar schools in Brno. Differences in the use of strategies, factors influencing the use of strategies (gender, motivation or self-concept) and factors influenced by the use of learning strategies (proficiency level, development of language competencies or school notes) are described. No systematic differences between the two educational programmes (8-year study and 4-year study) of grammar schools were found. The only differences found were those between particular schools. Students of the eight-year grammar school did not achieve higher level in the use of learning strategies than students ofthe four-year study programme

    Effect of Genotype on Ileal and Caecal Microbiota in Pasture-Reared Dominant Cockerels

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    Outdoor access is an important part of organic and free-range poultry production, yet limited information exists on the effect of various housing and production systems on the growth performance and colonization of food-borne pathogens. Therefore, the primary purpose of the current study was to evaluate the influence of different housing systems (particularly fixed versus small, portable houses, with and without outdoor access to pasture) and different broiler genotypes on the gastrointestinal bacteria in broilers. The fundamental factor studied was the presence of any quantitative changes in common gastrointestinal microbiota, including pathogenic genera such as Campylobacter sp. and Salmonella sp. The results showed differences in intestinal microbiota and confirmed lowered counts of caecal coliforms in pasture-reared broilers

    Clinoptilolite in Drinking Water Treatment for Ammonia Removal

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    In most countries today the removal of ammonium ions from drinking water has become almost a necessity. The natural zeolite clinoptiloliteis mined commercially in many parts of the world. It is a selective exchanger for the ammonium cation, and this has prompted its use in water treatment, wastewater treatment, swimming pools and fish farming. The work described in this paper provides dynamic data on cation exchange processes in clinoptilolite involving the NH4 +, Ca+2 and Mg+2 cations. We used material of natural origin – clinoptilolite from Nižný Hrabovec in Slovakia (particle-size 3–5 mm). The breakthrough capacity was determined by dynamic laboratory investigations, and we investigated the influence of thermal pretreatment of clinoptilolite and the concentration of regenerant solution (2, 5, and 10% NaCl). The concentrations of ammonium ion inputs in the tap water that we used were 10, 5, and 2 mg NH4 + l_1 and down to levels below 0.5 mg NH4 + l_1. The experimental results show that repeated pretreatment sufficiently improves the zeolite’s properties, and the structure of clinoptilolite remains unchanged during the loading and regeneration cycles. Ammonium removal capacities were increased by approximately 40 % and 20 % for heat-treated zeolite samples. There was no difference between the regenerates for 10% and 5% NaCl. We conclude that the use of zeolite is an attractive and promising method for ammonium removal.</p
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