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

Author

Collaborative, Epi25, Feng, Yen-Chen Anne, Howrigan, Daniel P, Abbott, Liam E, Tashman, Katherine, Cerrato, Felecia, Singh, Tarjinder, Heyne, Henrike, Byrnes, Andrea, Churchhouse, Claire, Watts, Nick, Solomonson, Matthew, Lal, Dennis, Heinzen, Erin L, Dhindsa, Ryan S, Stanley, Kate E, Cavalleri, Gianpiero L, Hakonarson, Hakon, Helbig, Ingo, Krause, Roland, May, Patrick, Weckhuysen, Sarah, Petrovski, Slavé, Kamalakaran, Sitharthan, Sisodiya, Sanjay M, Cossette, Patrick, Cotsapas, Chris, De Jonghe, Peter, Dixon-Salazar, Tracy, Guerrini, Renzo, Kwan, Patrick, Marson, Anthony G, Stewart, Randy, Depondt, Chantal, Dlugos, Dennis J, Scheffer, Ingrid E, Striano, Pasquale, Freyer, Catharine, McKenna, Kevin, Regan, Brigid M, Bellows, Susannah T, Leu, Costin, Bennett, Caitlin A, Johns, Esther MC, Macdonald, Alexandra, Shilling, Hannah, Burgess, Rosemary, Weckhuysen, Dorien, Bahlo, Melanie, O’Brien, Terence J, Todaro, Marian, Stamberger, Hannah, Andrade, Danielle M, Sadoway, Tara R, Mo, Kelly, Krestel, Heinz, Gallati, Sabina, Papacostas, Savvas S, Kousiappa, Ioanna, Tanteles, George A, Štěrbová, Katalin, Vlčková, Markéta, Sedláčková, Lucie, Laššuthová, Petra, Klein, Karl Martin, Rosenow, Felix, Reif, Philipp S, Knake, Susanne, Kunz, Wolfram S, Zsurka, Gábor, Elger, Christian E, Bauer, Jürgen, Rademacher, Michael, Pendziwiat, Manuela, Muhle, Hiltrud, Rademacher, Annika, van Baalen, Andreas, von Spiczak, Sarah, Stephani, Ulrich, Afawi, Zaid, Korczyn, Amos D, Kanaan, Moien, Canavati, Christina, Kurlemann, Gerhard, Müller-Schlüter, Karen, Kluger, Gerhard, Häusler, Martin, Blatt, Ilan, Lemke, Johannes R, Krey, Ilona, Weber, Yvonne G, Wolking, Stefan, Becker, Felicitas, Hengsbach, Christian, Rau, Sarah, Maisch, Ana F, Steinhoff, Bernhard J, Schulze-Bonhage, Andreas, Schubert-Bast, Susanne, and Schreiber, Herbert

Subjects
Clinical Research, Human Genome, Neurosciences, Epilepsy, Biotechnology, Genetics, Neurodegenerative, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Neurological, Case-Control Studies, DNA Mutational Analysis, Exome, Genetic Markers, Genetic Predisposition to Disease, Genetic Variation, Humans, Phenotype, Exome Sequencing, Epi25 Collaborative. Electronic address: s.berkovic@unimelb.edu.au, Epi25 Collaborative, burden analysis, epilepsy, epileptic encephalopathy, exome, seizures, sequencing, Biological Sciences, Medical and Health Sciences, Genetics & Heredity
Abstract

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 GABAA 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 CACNA1G, 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.

Published
2019

5. The expanding clinical and genetic spectrum of DYNC1H1-related disorders

Author

Möller, Birk, primary, Becker, Lena-Luise, additional, Saffari, Afshin, additional, Afenjar, Alexandra, additional, Coci, Emanuele G, additional, Williamson, Rachel, additional, Ward-Melver, Catherine, additional, Gibaud, Marc, additional, Sedláčková, Lucie, additional, Laššuthová, Petra, additional, Libá, Zuzana, additional, Vlčková, Markéta, additional, William, Nancy, additional, Klee, Eric W, additional, Gavrilova, Ralitza H, additional, Lévy, Jonathan, additional, Capri, Yline, additional, Scavina, Mena, additional, Körner, Robert Walter, additional, Valuvullah, Zaheer, additional, Weiß, Claudia, additional, Möller, Greta Marit, additional, Thiel, Moritz, additional, Sinnema, Margje, additional, Kamsteeg, Erik-Jan, additional, Donkervoort, Sandra, additional, Duboc, Veronique, additional, Zaafrane-Khachnaoui, Khaoula, additional, Elkhateeb, Nour, additional, Selim, Laila, additional, Margot, Henri, additional, Marin, Victor, additional, Beneteau, Claire, additional, Isidor, Bertrand, additional, Cogne, Benjamin, additional, Keren, Boris, additional, Küsters, Benno, additional, Beggs, Alan H, additional, Genetti, Casie A, additional, Nicolai, Joost, additional, Dötsch, Jörg, additional, Koy, Anne, additional, Bönnemann, Carsten G, additional, von der Hagen, Maja, additional, von Kleist-Retzow, Jürgen-Christoph, additional, Voermans, Nicol, additional, Jungbluth, Heinz, additional, and Dafsari, Hormos Salimi, additional

Published
2024
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8. Urologické komplikace u pacientů s roztroušenou sklerózou.

Author

Sedláčková, Lucie

Abstract

Copyright of Urologie Pro Praxi is the property of SOLEN sro and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2024

9. A 5‐year‐old boy with super‐refractory status epilepticus and RANBP2 variant warranting life‐saving hemispherotomy

Author

Straka, Barbora, primary, Koblížek, Miroslav, additional, Heřmanovská, Barbora, additional, Valkovičová, Radka, additional, Krsková, Lenka, additional, Kalinová, Markéta, additional, Vlčková, Markéta, additional, Zámečník, Josef, additional, Laššuthová, Petra, additional, Sedláčková, Lucie, additional, Staněk, David, additional, Maulisová, Alice, additional, Tichý, Michal, additional, Kynčl, Martin, additional, and Kršek, Pavel, additional

Published
2023
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10. A 5‐year‐old boy with super‐refractory status epilepticus and RANBP2 variant warranting life‐saving hemispherotomy.

Author

Straka, Barbora, Koblížek, Miroslav, Splítková, Barbora, Valkovičová, Radka, Krsková, Lenka, Kalinová, Markéta, Vlčková, Markéta, Zámečník, Josef, Laššuthová, Petra, Sedláčková, Lucie, Staněk, David, Maulisová, Alice, Tichý, Michal, Kynčl, Martin, and Kršek, Pavel

Subjects
STATUS epilepticus, FOCAL cortical dysplasia, GENETIC variation, INTRAVENOUS anesthesia, ANTICONVULSANTS
Abstract

Focal cortical dysplasia (FCD) represents the most common cause of drug‐resistant epilepsy in adult and pediatric surgical series. However, genetic factors contributing to severe phenotypes of FCD remain unknown. We present a patient with an exceptionally rapid development of drug‐resistant epilepsy evolving in super‐refractory status epilepticus. We performed multiple clinical (serial EEG, MRI), biochemical (metabolic and immunological screening), genetic (WES from blood‐ and brain‐derived DNA), and histopathological investigations. The patient presented 1 month after an uncomplicated varicella infection. MRI was negative, as well as other biochemical and immunological examinations. Whole‐exome sequencing of blood‐derived DNA detected a heterozygous paternally inherited variant NM_006267.4(RANBP2):c.5233A>G p.(Ile1745Val) (Chr2[GRCh37]:g.109382228A>G), a gene associated with a susceptibility to infection‐induced acute necrotizing encephalopathy. No combination of anti‐seizure medication led to a sustained seizure freedom and the patient warranted induction of propofol anesthesia with high‐dose intravenous midazolam and continuous respiratory support that however failed to abort seizure activity. Brain biopsy revealed FCD type IIa; this finding led to the indication of an emergency right‐sided hemispherotomy that rendered the patient temporarily seizure‐free. Postsurgically, he remains on antiseizure medication and experiences rare nondisabling seizures. This report highlights a uniquely severe clinical course of FCD putatively modified by the RANBP2 variant. Plain Language Summary: We report a case summary of a patient who came to our attention for epilepsy that could not be controlled with medication. His clinical course progressed rapidly to life‐threatening status epilepticus with other unusual neurological findings. Therefore, we decided to surgically remove a piece of brain tissue in order to clarify the diagnosis that showed features of a structural brain abnormality associated with severe epilepsy, the focal cortical dysplasia. Later, a genetic variant in a gene associated with another condition, was found, and we hypothesize that this genetic variant could have contributed to this severe clinical course of our patient. [ABSTRACT FROM AUTHOR]

Published
2024
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11. Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5

Author

Happ, Hannah C., primary, Sadleir, Lynette G., additional, Zemel, Matthew, additional, de Valles-Ibáñez, Guillem, additional, Hildebrand, Michael S., additional, McConkie-Rosell, Allyn, additional, McDonald, Marie, additional, May, Halie, additional, Sands, Tristan, additional, Aggarwal, Vimla, additional, Elder, Christopher, additional, Feyma, Timothy, additional, Bayat, Allan, additional, Møller, Rikke S., additional, Fenger, Christina D., additional, Klint Nielsen, Jens Erik, additional, Datta, Anita N., additional, Gorman, Kathleen M., additional, King, Mary D., additional, Linhares, Natalia D., additional, Burton, Barbara K., additional, Paras, Andrea, additional, Ellard, Sian, additional, Rankin, Julia, additional, Shukla, Anju, additional, Majethia, Purvi, additional, Olson, Rory J., additional, Muthusamy, Karthik, additional, Schimmenti, Lisa A., additional, Starnes, Keith, additional, Sedláčková, Lucie, additional, Štěrbová, Katalin, additional, Vlčková, Markéta, additional, Laššuthová, Petra, additional, Jahodová, Alena, additional, Porter, Brenda E., additional, Couque, Nathalie, additional, Colin, Estelle, additional, Prouteau, Clément, additional, Collet, Corinne, additional, Smol, Thomas, additional, Caumes, Roseline, additional, Vansenne, Fleur, additional, Bisulli, Francesca, additional, Licchetta, Laura, additional, Person, Richard, additional, Torti, Erin, additional, McWalter, Kirsty, additional, Webster, Richard, additional, Gerard, Elizabeth E., additional, Lesca, Gaetan, additional, Szepetowski, Pierre, additional, Scheffer, Ingrid E., additional, Mefford, Heather C., additional, and Carvill, Gemma L., additional

Published
2023
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12. Missense variants in the voltage sensing and pore domain of KCNH5 cause neurodevelopmental phenotypes including epilepsy

Author

Happ, Hannah C., primary, Sadleir, Lynette G., additional, Zemel, Matthew, additional, de Valles-Ibáñez, Guillem, additional, Hildebrand, Michael S., additional, McConkie-Rosell, Allyn, additional, McDonald, Marie, additional, May, Halie, additional, Sands, Tristan, additional, Aggarwal, Vimla, additional, Elder, Christopher, additional, Feyma, Timothy, additional, Bayat, Allan, additional, Møller, Rikke S., additional, Fenger, Christina D., additional, Nielsen, Jens Erik Klint, additional, Datta, Anita N., additional, Gorman, Kathleen M., additional, King, Mary D., additional, Linhares, Natalia, additional, Burton, Barbara K., additional, Paras, Andrea, additional, Ellard, Sian, additional, Rankin, Julia, additional, Shukla, Anju, additional, Majethia, Purvi, additional, Olson, Rory J., additional, Muthusamy, Karthik, additional, Schimmenti, Lisa A, additional, Starnes, Keith, additional, Sedláčková, Lucie, additional, Štěrbová, Katalin, additional, Vlčková, Markéta, additional, Laššuthová, Petra, additional, Jahodová, Alena, additional, Porter, Brenda E., additional, Couque, Nathalie, additional, Colin, Estelle, additional, Prouteau, Clément, additional, Collet, Corinne, additional, Smol, Thomas, additional, Caumes, Roseline, additional, Vansenne, Fleur, additional, Bisulli, Francesca, additional, Licchetta, Laura, additional, Person, Richard, additional, Torti, Erin, additional, McWalter, Kirsty, additional, Webster, Richard, additional, Lesca, Gaetan, additional, Szepetowski, Pierre, additional, Scheffer, Ingrid E., additional, Mefford, Heather C., additional, and Carvill, Gemma L., additional

Published
2022
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13. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

Author

Motelow, Joshua E., primary, Povysil, Gundula, additional, Dhindsa, Ryan S., additional, Stanley, Kate E., additional, Allen, Andrew S., additional, Feng, Yen-Chen Anne, additional, Howrigan, Daniel P., additional, Abbott, Liam E., additional, Tashman, Katherine, additional, Cerrato, Felecia, additional, Cusick, Caroline, additional, Singh, Tarjinder, additional, Heyne, Henrike, additional, Byrnes, Andrea E., additional, Churchhouse, Claire, additional, Watts, Nick, additional, Solomonson, Matthew, additional, Lal, Dennis, additional, Gupta, Namrata, additional, Neale, Benjamin M., additional, Cavalleri, Gianpiero L., additional, Cossette, Patrick, additional, Cotsapas, Chris, additional, De Jonghe, Peter, additional, Dixon-Salazar, Tracy, additional, Guerrini, Renzo, additional, Hakonarson, Hakon, additional, Heinzen, Erin L., additional, Helbig, Ingo, additional, Kwan, Patrick, additional, Marson, Anthony G., additional, Petrovski, Slavé, additional, Kamalakaran, Sitharthan, additional, Sisodiya, Sanjay M., additional, Stewart, Randy, additional, Weckhuysen, Sarah, additional, Depondt, Chantal, additional, Dlugos, Dennis J., additional, Scheffer, Ingrid E., additional, Striano, Pasquale, additional, Freyer, Catharine, additional, Krause, Roland, additional, May, Patrick, additional, McKenna, Kevin, additional, Regan, Brigid M., additional, Bennett, Caitlin A., additional, Leu, Costin, additional, Leech, Stephanie L., additional, O’Brien, Terence J., additional, Todaro, Marian, additional, Stamberger, Hannah, additional, Andrade, Danielle M., additional, Ali, Quratulain Zulfiqar, additional, Sadoway, Tara R., additional, Krestel, Heinz, additional, Schaller, André, additional, Papacostas, Savvas S., additional, Kousiappa, Ioanna, additional, Tanteles, George A., additional, Christou, Yiolanda, additional, Štěrbová, Katalin, additional, Vlčková, Markéta, additional, Sedláčková, Lucie, additional, Laššuthová, Petra, additional, Klein, Karl Martin, additional, Rosenow, Felix, additional, Reif, Philipp S., additional, Knake, Susanne, additional, Neubauer, Bernd A., additional, Zimprich, Friedrich, additional, Feucht, Martha, additional, Reinthaler, Eva M., additional, Kunz, Wolfram S., additional, Zsurka, Gábor, additional, Surges, Rainer, additional, Baumgartner, Tobias, additional, von Wrede, Randi, additional, Pendziwiat, Manuela, additional, Muhle, Hiltrud, additional, Rademacher, Annika, additional, van Baalen, Andreas, additional, von Spiczak, Sarah, additional, Stephani, Ulrich, additional, Afawi, Zaid, additional, Korczyn, Amos D., additional, Kanaan, Moien, additional, Canavati, Christina, additional, Kurlemann, Gerhard, additional, Müller-Schlüter, Karen, additional, Kluger, Gerhard, additional, Häusler, Martin, additional, Blatt, Ilan, additional, Lemke, Johannes R., additional, Krey, Ilona, additional, Weber, Yvonne G., additional, Wolking, Stefan, additional, Becker, Felicitas, additional, Lauxmann, Stephan, additional, Boßelmann, Christian, additional, Kegele, Josua, additional, Hengsbach, Christian, additional, Rau, Sarah, additional, Steinhoff, Bernhard J., additional, Schulze-Bonhage, Andreas, additional, Borggräfe, Ingo, additional, Schankin, Christoph J., additional, Schubert-Bast, Susanne, additional, Schreiber, Herbert, additional, Mayer, Thomas, additional, Korinthenberg, Rudolf, additional, Brockmann, Knut, additional, Wolff, Markus, additional, Dennig, Dieter, additional, Madeleyn, Rene, additional, Kälviäinen, Reetta, additional, Saarela, Anni, additional, Timonen, Oskari, additional, Linnankivi, Tarja, additional, Lehesjoki, Anna-Elina, additional, Rheims, Sylvain, additional, Lesca, Gaetan, additional, Ryvlin, Philippe, additional, Maillard, Louis, additional, Valton, Luc, additional, Derambure, Philippe, additional, Bartolomei, Fabrice, additional, Hirsch, Edouard, additional, Michel, Véronique, additional, Chassoux, Francine, additional, Rees, Mark I., additional, Chung, Seo-Kyung, additional, Pickrell, William O., additional, Powell, Robert, additional, Baker, Mark D., additional, Fonferko-Shadrach, Beata, additional, Lawthom, Charlotte, additional, Anderson, Joseph, additional, Schneider, Natascha, additional, Balestrini, Simona, additional, Zagaglia, Sara, additional, Braatz, Vera, additional, Johnson, Michael R., additional, Auce, Pauls, additional, Sills, Graeme J., additional, Baum, Larry W., additional, Sham, Pak C., additional, Cherny, Stacey S., additional, Lui, Colin H.T., additional, Delanty, Norman, additional, Doherty, Colin P., additional, Shukralla, Arif, additional, El-Naggar, Hany, additional, Widdess-Walsh, Peter, additional, Barišić, Nina, additional, Canafoglia, Laura, additional, Franceschetti, Silvana, additional, Castellotti, Barbara, additional, Granata, Tiziana, additional, Ragona, Francesca, additional, Zara, Federico, additional, Iacomino, Michele, additional, Riva, Antonella, additional, Madia, Francesca, additional, Vari, Maria Stella, additional, Salpietro, Vincenzo, additional, Scala, Marcello, additional, Mancardi, Maria Margherita, additional, Nobili, Lino, additional, Amadori, Elisabetta, additional, Giacomini, Thea, additional, Bisulli, Francesca, additional, Pippucci, Tommaso, additional, Licchetta, Laura, additional, Minardi, Raffaella, additional, Tinuper, Paolo, additional, Muccioli, Lorenzo, additional, Mostacci, Barbara, additional, Gambardella, Antonio, additional, Labate, Angelo, additional, Annesi, Grazia, additional, Manna, Lorella, additional, Gagliardi, Monica, additional, Parrini, Elena, additional, Mei, Davide, additional, Vetro, Annalisa, additional, Bianchini, Claudia, additional, Montomoli, Martino, additional, Doccini, Viola, additional, Barba, Carmen, additional, Hirose, Shinichi, additional, Ishii, Atsushi, additional, Suzuki, Toshimitsu, additional, Inoue, Yushi, additional, Yamakawa, Kazuhiro, additional, Beydoun, Ahmad, additional, Nasreddine, Wassim, additional, Khoueiry Zgheib, Nathalie, additional, Tumiene, Birute, additional, Utkus, Algirdas, additional, Sadleir, Lynette G., additional, King, Chontelle, additional, Caglayan, S. Hande, additional, Arslan, Mutluay, additional, Yapıcı, Zuhal, additional, Topaloglu, Pınar, additional, Kara, Bulent, additional, Yis, Uluc, additional, Turkdogan, Dilsad, additional, Gundogdu-Eken, Aslı, additional, Bebek, Nerses, additional, Uğur-İşeri, Sibel, additional, Baykan, Betül, additional, Salman, Barış, additional, Haryanyan, Garen, additional, Yücesan, Emrah, additional, Kesim, Yeşim, additional, Özkara, Çiğdem, additional, Tsai, Meng-Han, additional, Ho, Chen-Jui, additional, Lin, Chih-Hsiang, additional, Lin, Kuang-Lin, additional, Chou, I-Jun, additional, Poduri, Annapurna, additional, Shiedley, Beth R., additional, Shain, Catherine, additional, Noebels, Jeffrey L., additional, Goldman, Alicia, additional, Busch, Robyn M., additional, Jehi, Lara, additional, Najm, Imad M., additional, Ferguson, Lisa, additional, Khoury, Jean, additional, Glauser, Tracy A., additional, Clark, Peggy O., additional, Buono, Russell J., additional, Ferraro, Thomas N., additional, Sperling, Michael R., additional, Lo, Warren, additional, Privitera, Michael, additional, French, Jacqueline A., additional, Schachter, Steven, additional, Kuzniecky, Ruben I., additional, Devinsky, Orrin, additional, Hegde, Manu, additional, Greenberg, David A., additional, Ellis, Colin A., additional, Goldberg, Ethan, additional, Helbig, Katherine L., additional, Cosico, Mahgenn, additional, Vaidiswaran, Priya, additional, Fitch, Eryn, additional, Berkovic, Samuel F., additional, Lerche, Holger, additional, Lowenstein, Daniel H., additional, and Goldstein, David B., additional

Published
2021
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14. Distinct gene-set burden patterns underlie common generalized and focal epilepsies

Author

Koko, Mahmoud, primary, Krause, Roland, additional, Sander, Thomas, additional, Bobbili, Dheeraj Reddy, additional, Nothnagel, Michael, additional, May, Patrick, additional, Lerche, Holger, additional, Feng, Yen-Chen Anne, additional, Howrigan, Daniel P, additional, Abbott, Liam E, additional, Tashman, Katherine, additional, Cerrato, Felecia, additional, Singh, Tarjinder, additional, Heyne, Henrike, additional, Byrnes, Andrea, additional, Churchhouse, Claire, additional, Watts, Nick, additional, Solomonson, Matthew, additional, Lal, Dennis, additional, Heinzen, Erin L, additional, Dhindsa, Ryan S, additional, Stanley, Kate E, additional, Cavalleri, Gianpiero L, additional, Hakonarson, Hakon, additional, Helbig, Ingo, additional, Weckhuysen, Sarah, additional, Petrovski, Slavé, additional, Kamalakaran, Sitharthan, additional, Sisodiya, Sanjay M, additional, Cossette, Patrick, additional, Cotsapas, Chris, additional, DeJonghe, Peter, additional, Dixon-Salazar, Tracy, additional, Guerrini, Renzo, additional, Kwan, Patrick, additional, Marson, Anthony G, additional, Stewart, Randy, additional, Depondt, Chantal, additional, Dlugos, Dennis J, additional, Scheffer, Ingrid E, additional, Striano, Pasquale, additional, Freyer, Catharine, additional, McKenna, Kevin, additional, Regan, Brigid M, additional, Bellows, Susannah T, additional, Leu, Costin, additional, Bennett, Caitlin A, additional, Johns, Esther M C, additional, Macdonald, Alexandra, additional, Shilling, Hannah, additional, Burgess, Rosemary, additional, Weckhuysen, Dorien, additional, Bahlo, Melanie, additional, O'Brien, Terence J, additional, Todaro, Marian, additional, Stamberger, Hannah, additional, Andrade, Danielle M, additional, Sadoway, Tara R, additional, Mo, Kelly, additional, Krestel, Heinz, additional, Gallati, Sabina, additional, Papacostas, Savvas S, additional, Kousiappa, Ioanna, additional, Tanteles, George A, additional, Štěrbová, Katalin, additional, Vlčková, Markéta, additional, Sedláčková, Lucie, additional, Laššuthová, Petra, additional, Klein, Karl Martin, additional, Rosenow, Felix, additional, Reif, Philipp S, additional, Knake, Susanne, additional, Kunz, Wolfram S, additional, Zsurka, Gábor, additional, Elger, Christian E, additional, Bauer, Jürgen, additional, Rademacher, Michael, additional, Pendziwiat, Manuela, additional, Muhle, Hiltrud, additional, Rademacher, Annika, additional, vanBaalen, Andreas, additional, vonSpiczak, Sarah, additional, Stephani, Ulrich, additional, Afawi, Zaid, additional, Korczyn, Amos D, additional, Kanaan, Moien, additional, Canavati, Christina, additional, Kurlemann, Gerhard, additional, Müller-Schlüter, Karen, additional, Kluger, Gerhard, additional, Häusler, Martin, additional, Blatt, Ilan, additional, Lemke, Johannes R, additional, Krey, Ilona, additional, Weber, Yvonne G, additional, Wolking, Stefan, additional, Becker, Felicitas, additional, Hengsbach, Christian, additional, Rau, Sarah, additional, Maisch, Ana F, additional, Steinhoff, Bernhard J, additional, Schulze-Bonhage, Andreas, additional, Schubert-Bast, Susanne, additional, Schreiber, Herbert, additional, Borggräfe, Ingo, additional, Schankin, Christoph J, additional, Mayer, Thomas, additional, Korinthenberg, Rudolf, additional, Brockmann, Knut, additional, Dennig, Dieter, additional, Madeleyn, Rene, additional, Kälviäinen, Reetta, additional, Auvinen, Pia, additional, Saarela, Anni, additional, Linnankivi, Tarja, additional, Lehesjoki, Anna-Elina, additional, Rees, Mark I, additional, Chung, Seo-Kyung, additional, Pickrell, William O, additional, Powell, Robert, additional, Schneider, Natascha, additional, Balestrini, Simona, additional, Zagaglia, Sara, additional, Braatz, Vera, additional, Johnson, Michael R, additional, Auce, Pauls, additional, Sills, Graeme J, additional, Baum, Larry W, additional, Sham, Pak C, additional, Cherny, Stacey S, additional, Lui, Colin H T, additional, Barišić, Nina, additional, Delanty, Norman, additional, Doherty, Colin P, additional, Shukralla, Arif, additional, McCormack, Mark, additional, El-Naggar, Hany, additional, Canafoglia, Laura, additional, Franceschetti, Silvana, additional, Castellotti, Barbara, additional, Granata, Tiziana, additional, Zara, Federico, additional, Iacomino, Michele, additional, Madia, Francesca, additional, Vari, Maria Stella, additional, Mancardi, Maria Margherita, additional, Salpietro, Vincenzo, additional, Bisulli, Francesca, additional, Tinuper, Paolo, additional, Licchetta, Laura, additional, Pippucci, Tommaso, additional, Stipa, Carlotta, additional, Minardi, Raffaella, additional, Gambardella, Antonio, additional, Labate, Angelo, additional, Annesi, Grazia, additional, Manna, Lorella, additional, Gagliardi, Monica, additional, Parrini, Elena, additional, Mei, Davide, additional, Vetro, Annalisa, additional, Bianchini, Claudia, additional, Montomoli, Martino, additional, Doccini, Viola, additional, Marini, Carla, additional, Suzuki, Toshimitsu, additional, Inoue, Yushi, additional, Yamakawa, Kazuhiro, additional, Tumiene, Birute, additional, Sadleir, Lynette G, additional, King, Chontelle, additional, Mountier, Emily, additional, Caglayan, Hande S, additional, Arslan, Mutluay, additional, Yapıcı, Zuhal, additional, Yis, Uluc, additional, Topaloglu, Pınar, additional, Kara, Bulent, additional, Turkdogan, Dilsad, additional, Gundogdu-Eken, Aslı, additional, Bebek, Nerses, additional, Uğur-İşeri, Sibel, additional, Baykan, Betül, additional, Salman, Barış, additional, Haryanyan, Garen, additional, Yücesan, Emrah, additional, Kesim, Yeşim, additional, Özkara, Çiğdem, additional, Poduri, Annapurna, additional, Shiedley, Beth R, additional, Shain, Catherine, additional, Buono, Russell J, additional, Ferraro, Thomas N, additional, Sperling, Michael R, additional, Lo, Warren, additional, Privitera, Michael, additional, French, Jacqueline A, additional, Schachter, Steven, additional, Kuzniecky, Ruben I, additional, Devinsky, Orrin, additional, Hegde, Manu, additional, Khankhanian, Pouya, additional, Helbig, Katherine L, additional, Ellis, Colin A, additional, Spalletta, Gianfranco, additional, Piras, Fabrizio, additional, Piras, Federica, additional, Gili, Tommaso, additional, Ciullo, Valentina, additional, Reif, Andreas, additional, McQuillin, Andrew, additional, Bass, Nick, additional, McIntosh, Andrew, additional, Blackwood, Douglas, additional, Johnstone, Mandy, additional, Palotie, Aarno, additional, Pato, Michele T, additional, Pato, Carlos N, additional, Bromet, Evelyn J, additional, Carvalho, Celia Barreto, additional, Achtyes, Eric D, additional, Azevedo, Maria Helena, additional, Kotov, Roman, additional, Lehrer, Douglas S, additional, Malaspina, Dolores, additional, Marder, Stephen R, additional, Medeiros, Helena, additional, Morley, Christopher P, additional, Perkins, Diana O, additional, Sobell, Janet L, additional, Buckley, Peter F, additional, Macciardi, Fabio, additional, Rapaport, Mark H, additional, Knowles, James A, additional, Cohort, Genomic Psychiatry, additional, Fanous, Ayman H, additional, McCarroll, Steven A, additional, Gupta, Namrata, additional, Gabriel, Stacey B, additional, Daly, Mark J, additional, Lander, Eric S, additional, Lowenstein, Daniel H, additional, Goldstein, David B, additional, Berkovic, Samuel F, additional, and Neale, Benjamin M, additional

Published
2021
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16. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

Author

Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Motelow, Joshua E., Povysil, Gundula, Dhindsa, Ryan S., Stanley, Kate E., Allen, Andrew S., Feng, Yen-Chen Anne, Howrigan, Daniel P., Abbott, Liam E., Tashman, Katherine, Cerrato, Felecia, Cusick, Caroline, Singh, Tarjinder, Heyne, Henrike, Byrnes, Andrea E., Churchhouse, Claire, Watts, Nick, Solomonson, Matthew, Lal, Dennis, Gupta, Namrata, Neale, Benjamin M., Cavalleri, Gianpiero L., Cossette, Patrick, Cotsapas, Chris, Jonghe, Peter De, Dixon-Salazar, Tracy, Guerrini, Renzo, Hakonarson, Hakon, Heinzen, Erin L., Helbig, Ingo, Kwan, Patrick, Marson, Anthony G., Petrovski, Slavé, Kamalakaran, Sitharthan, Sisodiya, Sanjay M., Stewart, Randy, Weckhuysen, Sarah, Depondt, Chantal, Dlugos, Dennis J., Scheffer, Ingrid E., Striano, Pasquale, Freyer, Catharine, Krause, Roland, May, Patrick, McKenna, Kevin, Regan, Brigid M., Bennett, Caitlin A., Leu, Costin, Leech, Stephanie L., O’Brien, Terence J., Todaro, Marian, Stamberger, Hannah, Andrade, Danielle M., Ali, Quratulain Zulfiqar, Sadoway, Tara R., Krestel, Heinz, Schaller, André, Papacostas, Savvas S., Kousiappa, Ioanna, Tanteles, George A., Christou, Yiolanda, Štěrbová, Katalin, Vlčková, Markéta, Sedláčková, Lucie, Laššuthová, Petra, Klein, Karl Martin, Rosenow, Felix, Reif, Philipp S., Knake, Susanne, Neubauer, Bernd A., Zimprich, Friedrich, Feucht, Martha, Reinthaler, Eva M., Kunz, Wolfram S., Zsurka, Gábor, Surges, Rainer, Baumgartner, Tobias, Wrede, Randi Von, Pendziwiat, Manuela, Muhle, Hiltrud, Rademacher, Annika, Baalen, Andreas Van, Spiczak, Sarah Von, Stephani, Ulrich, Afawi, Zaid, Korczyn, Amos D., Kanaan, Moien, Canavati, Christina, Kurlemann, Gerhard, Müller-Schlüter, Karen, Kluger, Gerhard, Häusler, Martin, Blatt, Ilan, Lemke, Johannes R., Krey, Ilona, Weber, Yvonne G., Wolking, Stefan, Becker, Felicitas, Lauxmann, Stephan, Boßelmann, Christian, Kegele, Josua, Hengsbach, Christian, Rau, Sarah, Steinhoff, Bernhard J., Schulze-Bonhage, Andreas, Borggräfe, Ingo, Schankin, Christoph J., Schubert-Bast, Susanne, Schreiber, Herbert, Mayer, Thomas, Korinthenberg, Rudolf, Brockmann, Knut, Wolff, Markus, Dennig, Dieter, Madeleyn, Rene, Kälviäinen, Reetta, Saarela, Anni, Timonen, Oskari, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Rheims, Sylvain, Lesca, Gaetan, Ryvlin, Philippe, Maillard, Louis, Valton, Luc, Derambure, Philippe, Bartolomei, Fabrice, Hirsch, Edouard, Michel, Véronique, Chassoux, Francine, Rees, Mark I., Chung, Seo-Kyung, Pickrell, William O., Powell, Robert, Baker, Mark D., Fonferko-Shadrach, Beata, Lawthom, Charlotte, Anderson, Joseph, Schneider, Natascha, Balestrini, Simona, Zagaglia, Sara, Braatz, Vera, Johnson, Michael R., Auce, Pauls, Sills, Graeme J., Baum, Larry W., Sham, Pak C., Cherny, Stacey S., Lui, Colin H. T., Delanty, Norman, Doherty, Colin P., Shukralla, Arif, El-Naggar, Hany, Widdess-Walsh, Peter, Barišić, Nina, Canafoglia, Laura, Franceschetti, Silvana, Castellotti, Barbara, Granata, Tiziana, Ragona, Francesca, Zara, Federico, Iacomino, Michele, Riva, Antonella, Madia, Francesca, Vari, Maria Stella, Salpietro, Vincenzo, Scala, Marcello, Mancardi, Maria Margherita, Nobili, Lino, Amadori, Elisabetta, Giacomini, Thea, Bisulli, Francesca, Pippucci, Tommaso, Licchetta, Laura, Minardi, Raffaella, Tinuper, Paolo, Muccioli, Lorenzo, Mostacci, Barbara, Gambardella, Antonio, Labate, Angelo, Annesi, Grazia, Manna, Lorella, Gagliardi, Monica, Parrini, Elena, Mei, Davide, Vetro, Annalisa, Bianchini, Claudia, Montomoli, Martino, Doccini, Viola, Barba, Carmen, Hirose, Shinichi, Ishii, Atsushi, Suzuki, Toshimitsu, Inoue, Yushi, Yamakawa, Kazuhiro, Beydoun, Ahmad, Nasreddine, Wassim, Zgheib, Nathalie Khoueiry, Tumiene, Birute, Utkus, Algirdas, Sadleir, Lynette G., King, Chontelle, Caglayan, S. Hande, Arslan, Mutluay, Yapıcı, Zuhal, Topaloglu, Pınar, Kara, Bulent, Yis, Uluc, Turkdogan, Dilsad, Gundogdu-Eken, Aslı, Bebek, Nerses, Tsai, Meng-Han, Ho, Chen-Jui, Lin, Chih-Hsiang, Lin, Kuang-Lin, Chou, I.-Jun, Poduri, Annapurna, Shiedley, Beth R., Shain, Catherine, Noebels, Jeffrey L., Goldman, Alicia, Busch, Robyn M., Jehi, Lara, Najm, Imad M., Ferguson, Lisa, Khoury, Jean, Glauser, Tracy A., Clark, Peggy O., Buono, Russell J., Ferraro, Thomas N., Sperling, Michael R., Lo, Warren, Privitera, Michael, French, Jacqueline A., Schachter, Steven, Kuzniecky, Ruben I., Devinsky, Orrin, Hegde, Manu, Greenberg, David A., Ellis, Colin A., Goldberg, Ethan, Helbig, Katherine L., Cosico, Mahgenn, Vaidiswaran, Priya, Fitch, Eryn, Berkovic, Samuel F., Lerche, Holger, Lowenstein, Daniel H., Goldstein, David B., Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Motelow, Joshua E., Povysil, Gundula, Dhindsa, Ryan S., Stanley, Kate E., Allen, Andrew S., Feng, Yen-Chen Anne, Howrigan, Daniel P., Abbott, Liam E., Tashman, Katherine, Cerrato, Felecia, Cusick, Caroline, Singh, Tarjinder, Heyne, Henrike, Byrnes, Andrea E., Churchhouse, Claire, Watts, Nick, Solomonson, Matthew, Lal, Dennis, Gupta, Namrata, Neale, Benjamin M., Cavalleri, Gianpiero L., Cossette, Patrick, Cotsapas, Chris, Jonghe, Peter De, Dixon-Salazar, Tracy, Guerrini, Renzo, Hakonarson, Hakon, Heinzen, Erin L., Helbig, Ingo, Kwan, Patrick, Marson, Anthony G., Petrovski, Slavé, Kamalakaran, Sitharthan, Sisodiya, Sanjay M., Stewart, Randy, Weckhuysen, Sarah, Depondt, Chantal, Dlugos, Dennis J., Scheffer, Ingrid E., Striano, Pasquale, Freyer, Catharine, Krause, Roland, May, Patrick, McKenna, Kevin, Regan, Brigid M., Bennett, Caitlin A., Leu, Costin, Leech, Stephanie L., O’Brien, Terence J., Todaro, Marian, Stamberger, Hannah, Andrade, Danielle M., Ali, Quratulain Zulfiqar, Sadoway, Tara R., Krestel, Heinz, Schaller, André, Papacostas, Savvas S., Kousiappa, Ioanna, Tanteles, George A., Christou, Yiolanda, Štěrbová, Katalin, Vlčková, Markéta, Sedláčková, Lucie, Laššuthová, Petra, Klein, Karl Martin, Rosenow, Felix, Reif, Philipp S., Knake, Susanne, Neubauer, Bernd A., Zimprich, Friedrich, Feucht, Martha, Reinthaler, Eva M., Kunz, Wolfram S., Zsurka, Gábor, Surges, Rainer, Baumgartner, Tobias, Wrede, Randi Von, Pendziwiat, Manuela, Muhle, Hiltrud, Rademacher, Annika, Baalen, Andreas Van, Spiczak, Sarah Von, Stephani, Ulrich, Afawi, Zaid, Korczyn, Amos D., Kanaan, Moien, Canavati, Christina, Kurlemann, Gerhard, Müller-Schlüter, Karen, Kluger, Gerhard, Häusler, Martin, Blatt, Ilan, Lemke, Johannes R., Krey, Ilona, Weber, Yvonne G., Wolking, Stefan, Becker, Felicitas, Lauxmann, Stephan, Boßelmann, Christian, Kegele, Josua, Hengsbach, Christian, Rau, Sarah, Steinhoff, Bernhard J., Schulze-Bonhage, Andreas, Borggräfe, Ingo, Schankin, Christoph J., Schubert-Bast, Susanne, Schreiber, Herbert, Mayer, Thomas, Korinthenberg, Rudolf, Brockmann, Knut, Wolff, Markus, Dennig, Dieter, Madeleyn, Rene, Kälviäinen, Reetta, Saarela, Anni, Timonen, Oskari, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Rheims, Sylvain, Lesca, Gaetan, Ryvlin, Philippe, Maillard, Louis, Valton, Luc, Derambure, Philippe, Bartolomei, Fabrice, Hirsch, Edouard, Michel, Véronique, Chassoux, Francine, Rees, Mark I., Chung, Seo-Kyung, Pickrell, William O., Powell, Robert, Baker, Mark D., Fonferko-Shadrach, Beata, Lawthom, Charlotte, Anderson, Joseph, Schneider, Natascha, Balestrini, Simona, Zagaglia, Sara, Braatz, Vera, Johnson, Michael R., Auce, Pauls, Sills, Graeme J., Baum, Larry W., Sham, Pak C., Cherny, Stacey S., Lui, Colin H. T., Delanty, Norman, Doherty, Colin P., Shukralla, Arif, El-Naggar, Hany, Widdess-Walsh, Peter, Barišić, Nina, Canafoglia, Laura, Franceschetti, Silvana, Castellotti, Barbara, Granata, Tiziana, Ragona, Francesca, Zara, Federico, Iacomino, Michele, Riva, Antonella, Madia, Francesca, Vari, Maria Stella, Salpietro, Vincenzo, Scala, Marcello, Mancardi, Maria Margherita, Nobili, Lino, Amadori, Elisabetta, Giacomini, Thea, Bisulli, Francesca, Pippucci, Tommaso, Licchetta, Laura, Minardi, Raffaella, Tinuper, Paolo, Muccioli, Lorenzo, Mostacci, Barbara, Gambardella, Antonio, Labate, Angelo, Annesi, Grazia, Manna, Lorella, Gagliardi, Monica, Parrini, Elena, Mei, Davide, Vetro, Annalisa, Bianchini, Claudia, Montomoli, Martino, Doccini, Viola, Barba, Carmen, Hirose, Shinichi, Ishii, Atsushi, Suzuki, Toshimitsu, Inoue, Yushi, Yamakawa, Kazuhiro, Beydoun, Ahmad, Nasreddine, Wassim, Zgheib, Nathalie Khoueiry, Tumiene, Birute, Utkus, Algirdas, Sadleir, Lynette G., King, Chontelle, Caglayan, S. Hande, Arslan, Mutluay, Yapıcı, Zuhal, Topaloglu, Pınar, Kara, Bulent, Yis, Uluc, Turkdogan, Dilsad, Gundogdu-Eken, Aslı, Bebek, Nerses, Tsai, Meng-Han, Ho, Chen-Jui, Lin, Chih-Hsiang, Lin, Kuang-Lin, Chou, I.-Jun, Poduri, Annapurna, Shiedley, Beth R., Shain, Catherine, Noebels, Jeffrey L., Goldman, Alicia, Busch, Robyn M., Jehi, Lara, Najm, Imad M., Ferguson, Lisa, Khoury, Jean, Glauser, Tracy A., Clark, Peggy O., Buono, Russell J., Ferraro, Thomas N., Sperling, Michael R., Lo, Warren, Privitera, Michael, French, Jacqueline A., Schachter, Steven, Kuzniecky, Ruben I., Devinsky, Orrin, Hegde, Manu, Greenberg, David A., Ellis, Colin A., Goldberg, Ethan, Helbig, Katherine L., Cosico, Mahgenn, Vaidiswaran, Priya, Fitch, Eryn, Berkovic, Samuel F., Lerche, Holger, Lowenstein, Daniel H., and Goldstein, David B.

Abstract

Summary Both mild and severe epilepsies are influenced by variants in the same genes, yet an explanation for the resulting phenotypic variation is unknown. As part of the ongoing Epi25 Collaboration, we performed a whole-exome sequencing analysis of 13,487 epilepsy-affected individuals and 15,678 control individuals. While prior Epi25 studies focused on gene-based collapsing analyses, we asked how the pattern of variation within genes differs by epilepsy type. Specifically, we compared the genetic architectures of severe developmental and epileptic encephalopathies (DEEs) and two generally less severe epilepsies, genetic generalized epilepsy and non-acquired focal epilepsy (NAFE). Our gene-based rare variant collapsing analysis used geographic ancestry-based clustering that included broader ancestries than previously possible and revealed novel associations. Using the missense intolerance ratio (MTR), we found that variants in DEE-affected individuals are in significantly more intolerant genic sub-regions than those in NAFE-affected individuals. Only previously reported pathogenic variants absent in available genomic datasets showed a significant burden in epilepsy-affected individuals compared with control individuals, and the ultra-rare pathogenic variants associated with DEE were located in more intolerant genic sub-regions than variants associated with non-DEE epilepsies. MTR filtering improved the yield of ultra-rare pathogenic variants in affected individuals compared with control individuals. Finally, analysis of variants in genes without a disease association revealed a significant burden of loss-of-function variants in the genes most intolerant to such variation, indicating additional epilepsy-risk genes yet to be discovered. Taken together, our study suggests that genic and sub-genic intolerance are critical characteristics for interpreting the effects of variation in genes that influence epilepsy.

Published
2021

17. Demografický vývoj farnosti Vápno v letech 1721-1849

Author

Nekvapil Jirásková, Šárka, Macková, Marie, Sedláčková, Lucie, Nekvapil Jirásková, Šárka, Macková, Marie, and Sedláčková, Lucie

Abstract

Bakalářská práce se věnuje demografickému vývoji farnosti Vápno v letech 1721-1849 nacházející se v okresu Pardubice. Při studiu sňatečnosti, porodnosti a úmrtnosti bylo čerpáno z jedenácti matričních knih. Údaje byly získány metodou anonymní excerpcí dat. Tato data byla následně porovnána s dalšími lokalitami a celozemskými hodnotami., The thesis is devoted to the demographic development of the parish of Vápno in 1721-1849 located in the district of Pardubice. Eleven matrimonial books were used to study nuptiality, natality and mortality. The data was obtained using the anonymous data excerpt method. This data was then compared with other locations and country-wide values., Fakulta filozofická, Představení práce Posudek vedoucí práce a oponentky Diskuse - záznamy v matrikách - porodní báby - úmrtní diagnostika, Dokončená práce s úspěšnou obhajobou

Published
2021

21. Wood-processing industry in South Bohemia - variety of health risk assessment

Author

SEDLÁČKOVÁ, Lucie

Subjects
glass industry, pracovní prostředí, kategorizace prací, opatření k ochraně zdraví, Woodworking industry, preventive measures to protect health, rizikové faktory, Dřevozpracující průmysl, job classification, working environment risk factors
Abstract

In my diploma thesis I deal with the issue of the working environment in the woodworking industry and the diversity of the associated risks, such as noise, dust, vibrations, chemicals, physical load and working position. This issue is current due to the rise of custom joinery. Demand also rises for the quality hard wood and its products, so part of my work deals with this issue as well. I find problematic the variability of the work environment related to measurable environmental parameters. The theoretical part will be based on literature and legislation related to this issue. The areas related to wood-processing operations will be detailed. This issue is handled mainly in relation to the hygiene of work and occupational medicine. Therefore the legislation and terminology, on which the practical part is based, devote a considerable part of the theoretical part. Three companies operating in Southern Bohemia were deliberately selected for research. The practical part is based on the measurement protocols of the individual working environment factors. I obtained the results using secondary analysis of data from measurement protocols of individual factors, professional literature, decrees, government regulations and laws. Two objectives and three research questions have been set for research. Objective 1: The work will identify risk factors for the work of woodworkers. Objective 2: The work will evaluate proposals for employers' precautions to protect the health of workers in individual woodworking plants. V1: Are there significant differences in the occurrence of risk factors in woodworking with regard to the way wood and its products are processed? V2: Are there significant differences in the precautions for the health protection in wood production according to the way of processing of wood and its products? V3: How does hardwood dust affect woodworking technology and health protection precautions? The first objective was chosen for the factual description of the working environment of individual companies, as the individual operations differ significantly from the occurring risk factors and their risk. The second objective was chosen with regard to the importance of properly chosen health protection precautions. Failure to comply with the employer's obligations linked to the protection of workers' health may result in serious and permanent damage to health. The importance of appropriately chosen precautions results from the final part of my work.

Published
2019

22. Analysis of communication of the non-profit organization People in Need on Facebook

Author

Sedláčková, Lucie, Klabíková Rábová, Tereza, and Švec, Kamil

Subjects
digitalization of non-profit sector, social media, diskurz, non-profit organizations, digitalization, nová média, pragmalingvistická analýza, discourse, Člověk v tísni, digitalizace neziskového sektoru, sociální sítě, digitalizace, new media, People in need, pragmatic linguistic analyses, neziskové organizace
Abstract

The aim and the goal of this thesis are to analyze the digital communication of the non-profit organization People in need through its Facebook posts. The thesis is divided into three main parts. The first one focused on the phenomenon of new media and social media. These two subjects will be defined and base on available literature. Then the theoretical part will focus on non-profit organizations, their strategies and especially their digitalization and digital communication. The finding from this part will be applied in the analyses. The methodological part will set the process of content qualitative analyses and pragmatic linguistic analyses, which will be used in the practical part. The practical part will focus on the categorization of the Facebook posts and then especially on language occurrences. There will be specific examples in every part of the thesis. The last part will sum up the findings and highlight the important parts.

Published
2019

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

Author

Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Feng, Yen-Chen Anne, Howrigan, Daniel P., Abbott, Liam E., Tashman, Katherine, Cerrato, Felecia, Singh, Tarjinder, Heyne, Henrike, Byrnes, Andrea, Churchhouse, Claire, Watts, Nick, Solomonson, Matthew, Lal, Dennis, Heinzen, Erin L., Dhindsa, Ryan S., Stanley, Kate E., Cavalleri, Gianpiero L., Hakonarson, Hakon, Helbig, Ingo, Krause, Roland, May, Patrick, Weckhuysen, Sarah, Petrovski, Slavé, Kamalakaran, Sitharthan, Sisodiya, Sanjay M., Cossette, Patrick, Cotsapas, Chris, Jonghe, Peter De, Dixon-Salazar, Tracy, Guerrini, Renzo, Kwan, Patrick, Marson, Anthony G., Stewart, Randy, Depondt, Chantal, Dlugos, Dennis J., Scheffer, Ingrid E., Striano, Pasquale, Freyer, Catharine, McKenna, Kevin, Regan, Brigid M., Bellows, Susannah T., Leu, Costin, Bennett, Caitlin A., Johns, Esther M. C., Macdonald, Alexandra, Shilling, Hannah, Burgess, Rosemary, Weckhuysen, Dorien, Bahlo, Melanie, O’Brien, Terence J., Todaro, Marian, Stamberger, Hannah, Andrade, Danielle M., Sadoway, Tara R., Mo, Kelly, Krestel, Heinz, Gallati, Sabina, Papacostas, Savvas S., Kousiappa, Ioanna, Tanteles, George A., Štěrbová, Katalin, Vlčková, Markéta, Sedláčková, Lucie, Laššuthová, Petra, Klein, Karl Martin, Rosenow, Felix, Reif, Philipp S., Knake, Susanne, Kunz, Wolfram S., Zsurka, Gábor, Elger, Christian E., Bauer, Jürgen, Rademacher, Michael, Pendziwiat, Manuela, Muhle, Hiltrud, Rademacher, Annika, Baalen, Andreas Van, Spiczak, Sarah Von, Stephani, Ulrich, Afawi, Zaid, Korczyn, Amos D., Kanaan, Moien, Canavati, Christina, Kurlemann, Gerhard, Müller-Schlüter, Karen, Kluger, Gerhard, Häusler, Martin, Blatt, Ilan, Lemke, Johannes R., Krey, Ilona, Weber, Yvonne G., Wolking, Stefan, Becker, Felicitas, Hengsbach, Christian, Rau, Sarah, Maisch, Ana F., Steinhoff, Bernhard J., Schulze-Bonhage, Andreas, Schubert-Bast, Susanne, Schreiber, Herbert, Borggräfe, Ingo, Schankin, Christoph J., Mayer, Thomas, Korinthenberg, Rudolf, Brockmann, Knut, Dennig, Dieter, Madeleyn, Rene, Kälviäinen, Reetta, Auvinen, Pia, Saarela, Anni, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Rees, Mark I., Chung, Seo-Kyung, Pickrell, William O., Powell, Robert, Schneider, Natascha, Balestrini, Simona, Zagaglia, Sara, Braatz, Vera, Johnson, Michael R., Auce, Pauls, Sills, Graeme J., Baum, Larry W., Sham, Pak C., Cherny, Stacey S., Lui, Colin H. T., Barišić, Nina, Delanty, Norman, Doherty, Colin P., Shukralla, Arif, McCormack, Mark, El-Naggar, Hany, Canafoglia, Laura, Franceschetti, Silvana, Castellotti, Barbara, Granata, Tiziana, Zara, Federico, Iacomino, Michele, Madia, Francesca, Vari, Maria Stella, Mancardi, Maria Margherita, Salpietro, Vincenzo, Bisulli, Francesca, Tinuper, Paolo, Licchetta, Laura, Pippucci, Tommaso, Stipa, Carlotta, Minardi, Raffaella, Gambardella, Antonio, Labate, Angelo, Annesi, Grazia, Manna, Lorella, Gagliardi, Monica, Parrini, Elena, Mei, Davide, Vetro, Annalisa, Bianchini, Claudia, Montomoli, Martino, Doccini, Viola, Marini, Carla, Suzuki, Toshimitsu, Inoue, Yushi, Yamakawa, Kazuhiro, Tumiene, Birute, Sadleir, Lynette G., King, Chontelle, Mountier, Emily, Caglayan, S. Hande, Arslan, Mutluay, Yapıcı, Zuhal, Yis, Uluc, Topaloglu, Pınar, Kara, Bulent, Turkdogan, Dilsad, Gundogdu-Eken, Aslı, Bebek, Nerses, Uğur-İşeri, Sibel, Baykan, Betül, Salman, Barış, Haryanyan, Garen, Yücesan, Emrah, Kesim, Yeşim, Özkara, Çiğdem, Poduri, Annapurna, Shiedley, Beth R., Shain, Catherine, Buono, Russell J., Ferraro, Thomas N., Sperling, Michael R., Lo, Warren, Privitera, Michael, French, Jacqueline A., Schachter, Steven, Kuzniecky, Ruben I., Devinsky, Orrin, Hegde, Manu, Khankhanian, Pouya, Helbig, Katherine L., Ellis, Colin A., Spalletta, Gianfranco, Piras, Fabrizio, Piras, Federica, Gili, Tommaso, Ciullo, Valentina, Reif, Andreas, McQuillin, Andrew, Bass, Nick, McIntosh, Andrew, Blackwood, Douglas, Johnstone, Mandy, Palotie, Aarno, Pato, Michele T., Pato, Carlos N., Bromet, Evelyn J., Carvalho, Celia Barreto, Achtyes, Eric D., Azevedo, Maria Helena, Kotov, Roman, Lehrer, Douglas S., Malaspina, Dolores, Marder, Stephen R., Medeiros, Helena, Morley, Christopher P., Perkins, Diana O., Sobell, Janet L., Buckley, Peter F., Macciardi, Fabio, Rapaport, Mark H., Knowles, James A., Fanous, Ayman H., McCarroll, Steven A., Gupta, Namrata, Gabriel, Stacey B., Daly, Mark J., Lander, Eric S., Lowenstein, Daniel H., Goldstein, David B., Lerche, Holger, Berkovic, Samuel F., Neale, Benjamin M., Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Feng, Yen-Chen Anne, Howrigan, Daniel P., Abbott, Liam E., Tashman, Katherine, Cerrato, Felecia, Singh, Tarjinder, Heyne, Henrike, Byrnes, Andrea, Churchhouse, Claire, Watts, Nick, Solomonson, Matthew, Lal, Dennis, Heinzen, Erin L., Dhindsa, Ryan S., Stanley, Kate E., Cavalleri, Gianpiero L., Hakonarson, Hakon, Helbig, Ingo, Krause, Roland, May, Patrick, Weckhuysen, Sarah, Petrovski, Slavé, Kamalakaran, Sitharthan, Sisodiya, Sanjay M., Cossette, Patrick, Cotsapas, Chris, Jonghe, Peter De, Dixon-Salazar, Tracy, Guerrini, Renzo, Kwan, Patrick, Marson, Anthony G., Stewart, Randy, Depondt, Chantal, Dlugos, Dennis J., Scheffer, Ingrid E., Striano, Pasquale, Freyer, Catharine, McKenna, Kevin, Regan, Brigid M., Bellows, Susannah T., Leu, Costin, Bennett, Caitlin A., Johns, Esther M. C., Macdonald, Alexandra, Shilling, Hannah, Burgess, Rosemary, Weckhuysen, Dorien, Bahlo, Melanie, O’Brien, Terence J., Todaro, Marian, Stamberger, Hannah, Andrade, Danielle M., Sadoway, Tara R., Mo, Kelly, Krestel, Heinz, Gallati, Sabina, Papacostas, Savvas S., Kousiappa, Ioanna, Tanteles, George A., Štěrbová, Katalin, Vlčková, Markéta, Sedláčková, Lucie, Laššuthová, Petra, Klein, Karl Martin, Rosenow, Felix, Reif, Philipp S., Knake, Susanne, Kunz, Wolfram S., Zsurka, Gábor, Elger, Christian E., Bauer, Jürgen, Rademacher, Michael, Pendziwiat, Manuela, Muhle, Hiltrud, Rademacher, Annika, Baalen, Andreas Van, Spiczak, Sarah Von, Stephani, Ulrich, Afawi, Zaid, Korczyn, Amos D., Kanaan, Moien, Canavati, Christina, Kurlemann, Gerhard, Müller-Schlüter, Karen, Kluger, Gerhard, Häusler, Martin, Blatt, Ilan, Lemke, Johannes R., Krey, Ilona, Weber, Yvonne G., Wolking, Stefan, Becker, Felicitas, Hengsbach, Christian, Rau, Sarah, Maisch, Ana F., Steinhoff, Bernhard J., Schulze-Bonhage, Andreas, Schubert-Bast, Susanne, Schreiber, Herbert, Borggräfe, Ingo, Schankin, Christoph J., Mayer, Thomas, Korinthenberg, Rudolf, Brockmann, Knut, Dennig, Dieter, Madeleyn, Rene, Kälviäinen, Reetta, Auvinen, Pia, Saarela, Anni, Linnankivi, Tarja, Lehesjoki, Anna-Elina, Rees, Mark I., Chung, Seo-Kyung, Pickrell, William O., Powell, Robert, Schneider, Natascha, Balestrini, Simona, Zagaglia, Sara, Braatz, Vera, Johnson, Michael R., Auce, Pauls, Sills, Graeme J., Baum, Larry W., Sham, Pak C., Cherny, Stacey S., Lui, Colin H. T., Barišić, Nina, Delanty, Norman, Doherty, Colin P., Shukralla, Arif, McCormack, Mark, El-Naggar, Hany, Canafoglia, Laura, Franceschetti, Silvana, Castellotti, Barbara, Granata, Tiziana, Zara, Federico, Iacomino, Michele, Madia, Francesca, Vari, Maria Stella, Mancardi, Maria Margherita, Salpietro, Vincenzo, Bisulli, Francesca, Tinuper, Paolo, Licchetta, Laura, Pippucci, Tommaso, Stipa, Carlotta, Minardi, Raffaella, Gambardella, Antonio, Labate, Angelo, Annesi, Grazia, Manna, Lorella, Gagliardi, Monica, Parrini, Elena, Mei, Davide, Vetro, Annalisa, Bianchini, Claudia, Montomoli, Martino, Doccini, Viola, Marini, Carla, Suzuki, Toshimitsu, Inoue, Yushi, Yamakawa, Kazuhiro, Tumiene, Birute, Sadleir, Lynette G., King, Chontelle, Mountier, Emily, Caglayan, S. Hande, Arslan, Mutluay, Yapıcı, Zuhal, Yis, Uluc, Topaloglu, Pınar, Kara, Bulent, Turkdogan, Dilsad, Gundogdu-Eken, Aslı, Bebek, Nerses, Uğur-İşeri, Sibel, Baykan, Betül, Salman, Barış, Haryanyan, Garen, Yücesan, Emrah, Kesim, Yeşim, Özkara, Çiğdem, Poduri, Annapurna, Shiedley, Beth R., Shain, Catherine, Buono, Russell J., Ferraro, Thomas N., Sperling, Michael R., Lo, Warren, Privitera, Michael, French, Jacqueline A., Schachter, Steven, Kuzniecky, Ruben I., Devinsky, Orrin, Hegde, Manu, Khankhanian, Pouya, Helbig, Katherine L., Ellis, Colin A., Spalletta, Gianfranco, Piras, Fabrizio, Piras, Federica, Gili, Tommaso, Ciullo, Valentina, Reif, Andreas, McQuillin, Andrew, Bass, Nick, McIntosh, Andrew, Blackwood, Douglas, Johnstone, Mandy, Palotie, Aarno, Pato, Michele T., Pato, Carlos N., Bromet, Evelyn J., Carvalho, Celia Barreto, Achtyes, Eric D., Azevedo, Maria Helena, Kotov, Roman, Lehrer, Douglas S., Malaspina, Dolores, Marder, Stephen R., Medeiros, Helena, Morley, Christopher P., Perkins, Diana O., Sobell, Janet L., Buckley, Peter F., Macciardi, Fabio, Rapaport, Mark H., Knowles, James A., Fanous, Ayman H., McCarroll, Steven A., Gupta, Namrata, Gabriel, Stacey B., Daly, Mark J., Lander, Eric S., Lowenstein, Daniel H., Goldstein, David B., Lerche, Holger, Berkovic, Samuel F., and Neale, Benjamin M.

Abstract

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 GABAA 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 CACNA1G, 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.

Published
2019

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

Author

Feng, Yen-Chen Anne, primary, Howrigan, Daniel P., additional, Abbott, Liam E., additional, Tashman, Katherine, additional, Cerrato, Felecia, additional, Singh, Tarjinder, additional, Heyne, Henrike, additional, Byrnes, Andrea, additional, Churchhouse, Claire, additional, Watts, Nick, additional, Solomonson, Matthew, additional, Lal, Dennis, additional, Heinzen, Erin L., additional, Dhindsa, Ryan S., additional, Stanley, Kate E., additional, Cavalleri, Gianpiero L., additional, Hakonarson, Hakon, additional, Helbig, Ingo, additional, Krause, Roland, additional, May, Patrick, additional, Weckhuysen, Sarah, additional, Petrovski, Slavé, additional, Kamalakaran, Sitharthan, additional, Sisodiya, Sanjay M., additional, Cossette, Patrick, additional, Cotsapas, Chris, additional, De Jonghe, Peter, additional, Dixon-Salazar, Tracy, additional, Guerrini, Renzo, additional, Kwan, Patrick, additional, Marson, Anthony G., additional, Stewart, Randy, additional, Depondt, Chantal, additional, Dlugos, Dennis J., additional, Scheffer, Ingrid E., additional, Striano, Pasquale, additional, Freyer, Catharine, additional, McKenna, Kevin, additional, Regan, Brigid M., additional, Bellows, Susannah T., additional, Leu, Costin, additional, Bennett, Caitlin A., additional, Johns, Esther M.C., additional, Macdonald, Alexandra, additional, Shilling, Hannah, additional, Burgess, Rosemary, additional, Weckhuysen, Dorien, additional, Bahlo, Melanie, additional, O’Brien, Terence J., additional, Todaro, Marian, additional, Stamberger, Hannah, additional, Andrade, Danielle M., additional, Sadoway, Tara R., additional, Mo, Kelly, additional, Krestel, Heinz, additional, Gallati, Sabina, additional, Papacostas, Savvas S., additional, Kousiappa, Ioanna, additional, Tanteles, George A., additional, Štěrbová, Katalin, additional, Vlčková, Markéta, additional, Sedláčková, Lucie, additional, Laššuthová, Petra, additional, Klein, Karl Martin, additional, Rosenow, Felix, additional, Reif, Philipp S., additional, Knake, Susanne, additional, Kunz, Wolfram S., additional, Zsurka, Gábor, additional, Elger, Christian E., additional, Bauer, Jürgen, additional, Rademacher, Michael, additional, Pendziwiat, Manuela, additional, Muhle, Hiltrud, additional, Rademacher, Annika, additional, van Baalen, Andreas, additional, von Spiczak, Sarah, additional, Stephani, Ulrich, additional, Afawi, Zaid, additional, Korczyn, Amos D., additional, Kanaan, Moien, additional, Canavati, Christina, additional, Kurlemann, Gerhard, additional, Müller-Schlüter, Karen, additional, Kluger, Gerhard, additional, Häusler, Martin, additional, Blatt, Ilan, additional, Lemke, Johannes R., additional, Krey, Ilona, additional, Weber, Yvonne G., additional, Wolking, Stefan, additional, Becker, Felicitas, additional, Hengsbach, Christian, additional, Rau, Sarah, additional, Maisch, Ana F., additional, Steinhoff, Bernhard J., additional, Schulze-Bonhage, Andreas, additional, Schubert-Bast, Susanne, additional, Schreiber, Herbert, additional, Borggräfe, Ingo, additional, Schankin, Christoph J., additional, Mayer, Thomas, additional, Korinthenberg, Rudolf, additional, Brockmann, Knut, additional, Dennig, Dieter, additional, Madeleyn, Rene, additional, Kälviäinen, Reetta, additional, Auvinen, Pia, additional, Saarela, Anni, additional, Linnankivi, Tarja, additional, Lehesjoki, Anna-Elina, additional, Rees, Mark I., additional, Chung, Seo-Kyung, additional, Pickrell, William O., additional, Powell, Robert, additional, Schneider, Natascha, additional, Balestrini, Simona, additional, Zagaglia, Sara, additional, Braatz, Vera, additional, Johnson, Michael R., additional, Auce, Pauls, additional, Sills, Graeme J., additional, Baum, Larry W., additional, Sham, Pak C., additional, Cherny, Stacey S., additional, Lui, Colin H.T., additional, Barišić, Nina, additional, Delanty, Norman, additional, Doherty, Colin P., additional, Shukralla, Arif, additional, McCormack, Mark, additional, El-Naggar, Hany, additional, Canafoglia, Laura, additional, Franceschetti, Silvana, additional, Castellotti, Barbara, additional, Granata, Tiziana, additional, Zara, Federico, additional, Iacomino, Michele, additional, Madia, Francesca, additional, Vari, Maria Stella, additional, Mancardi, Maria Margherita, additional, Salpietro, Vincenzo, additional, Bisulli, Francesca, additional, Tinuper, Paolo, additional, Licchetta, Laura, additional, Pippucci, Tommaso, additional, Stipa, Carlotta, additional, Minardi, Raffaella, additional, Gambardella, Antonio, additional, Labate, Angelo, additional, Annesi, Grazia, additional, Manna, Lorella, additional, Gagliardi, Monica, additional, Parrini, Elena, additional, Mei, Davide, additional, Vetro, Annalisa, additional, Bianchini, Claudia, additional, Montomoli, Martino, additional, Doccini, Viola, additional, Marini, Carla, additional, Suzuki, Toshimitsu, additional, Inoue, Yushi, additional, Yamakawa, Kazuhiro, additional, Tumiene, Birute, additional, Sadleir, Lynette G., additional, King, Chontelle, additional, Mountier, Emily, additional, Caglayan, S. Hande, additional, Arslan, Mutluay, additional, Yapıcı, Zuhal, additional, Yis, Uluc, additional, Topaloglu, Pınar, additional, Kara, Bulent, additional, Turkdogan, Dilsad, additional, Gundogdu-Eken, Aslı, additional, Bebek, Nerses, additional, Uğur-İşeri, Sibel, additional, Baykan, Betül, additional, Salman, Barış, additional, Haryanyan, Garen, additional, Yücesan, Emrah, additional, Kesim, Yeşim, additional, Özkara, Çiğdem, additional, Poduri, Annapurna, additional, Shiedley, Beth R., additional, Shain, Catherine, additional, Buono, Russell J., additional, Ferraro, Thomas N., additional, Sperling, Michael R., additional, Lo, Warren, additional, Privitera, Michael, additional, French, Jacqueline A., additional, Schachter, Steven, additional, Kuzniecky, Ruben I., additional, Devinsky, Orrin, additional, Hegde, Manu, additional, Khankhanian, Pouya, additional, Helbig, Katherine L., additional, Ellis, Colin A., additional, Spalletta, Gianfranco, additional, Piras, Fabrizio, additional, Piras, Federica, additional, Gili, Tommaso, additional, Ciullo, Valentina, additional, Reif, Andreas, additional, McQuillin, Andrew, additional, Bass, Nick, additional, McIntosh, Andrew, additional, Blackwood, Douglas, additional, Johnstone, Mandy, additional, Palotie, Aarno, additional, Pato, Michele T., additional, Pato, Carlos N., additional, Bromet, Evelyn J., additional, Carvalho, Celia Barreto, additional, Achtyes, Eric D., additional, Azevedo, Maria Helena, additional, Kotov, Roman, additional, Lehrer, Douglas S., additional, Malaspina, Dolores, additional, Marder, Stephen R., additional, Medeiros, Helena, additional, Morley, Christopher P., additional, Perkins, Diana O., additional, Sobell, Janet L., additional, Buckley, Peter F., additional, Macciardi, Fabio, additional, Rapaport, Mark H., additional, Knowles, James A., additional, Fanous, Ayman H., additional, McCarroll, Steven A., additional, Gupta, Namrata, additional, Gabriel, Stacey B., additional, Daly, Mark J., additional, Lander, Eric S., additional, Lowenstein, Daniel H., additional, Goldstein, David B., additional, Lerche, Holger, additional, Berkovic, Samuel F., additional, and Neale, Benjamin M., additional

Published
2019
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30. Health risk assessment of selected workplace factors in furniture manufacturing in various firms

Author

SEDLÁČKOVÁ, Lucie

Subjects
work environment, pracovní prostředí, kategorizace prací, preventive health measures, dřevovýroba, woodworking, rizikové faktory, preventivní opatření k ochraně zdraví, work categorization, risk factors
Abstract

We encounter many risk factors in furniture production work environment. Presumed factors in my thesis were noise, dust, vibration, workload and working position. Any work might have impact on persons' health. That impact might be both positive and negative. That's why we have to deal with a protection of workers' health preventively. An integral part of this protection is hygienic supervision, for which employers must classify work processes into categories. In the theoretical part I focus on specification and detailed explanation of all of the concepts and topics connected to my thesis. I also focus on an assessment of health risks and diseases associated with them. One of the possible applications of my thesis is the use in practice. It should assist the employers evaluate their workings and I would like to familiarize them to all of the production risks. The goals of my work are to specify wood processing risks and evaluate proposals on measures to protect workers' health and assess their feasibility in practice. I tried to achieve my goals through research questions, which are: Which risk factors occur in furniture production work environment? Are those factors categorized correctly? Are protecting measures for employees´ health implemented? The thesis was realized as a quality research, especially due to only local conduction of the research and missing statistical data representativeness. The need of openness to the new research findings is a huge advantage. The thesis was developed with the help of the secondary data analysis, using a professional literature, laws, notices and protocols and apparent observation. The objectives of the thesis were fulfilled, risks of the furniture production work environment in selected firms were defined and protecting measures for workers' health were evaluated. It was determined that expected work environment factors are really occurring but with lesser frequency. In addition, two new factors appeared, namely, chemical substances and visual strain. It was also found out, that measures to protect workers' health were well-processed and realizable.

Published
2016

31. The position of Air Jordan brand on the market

Author

Sedláčková, Lucie, Voráček, Josef, and Štědroň, Bohumír

Subjects
product, marketing, produkt, brand, značka, branding, cena, price
Abstract

Title: The position of Air Jordan brand on the market Goal: The purpose of this thesis is to design measures that would improve the position of Air Jordan brand on the Czech market with basketball equipment. These measures are based on analyses with basketball equipment. Methods: The research itself is based on the method of sociological field investigation. The data were collected by a structured questionnaires followed by analyses. Results: The results of this research work are not only suggestion for improvement, which should provide a better brand position on the Czech Air Jordan basketball equipment market, but also for the actual assessment of the brand. This proposal could be realised in real life. Powered by TCPDF (www.tcpdf.org)

Published
2016

32. UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood.

Author

Sedláčková, Lucie, Laššuthová, Petra, Štěrbová, Katalin, Haberlová, Jana, Vyhnálková, Emílie, Neupauerová, Jana, Staněk, David, Šedivá, Marie, Kršek, Pavel, and Seeman, Pavel

Subjects
*JUVENILE diseases, *INTELLECTUAL disabilities, *EPILEPSY, *EXTRAPYRAMIDAL disorders, *MOVEMENT disorders, *NEURODEGENERATION
Abstract

Introduction Neurodegenerative diseases of childhood present with progressive decline in cognitive, social, and motor function and are frequently associated with seizures in different stages of the disease. Here we report a patient with severe progressive neurodegeneration with drug-resistant epilepsy of unknown etiology from the age of 2 years. Methods and Results Using whole exome sequencing, we found heterozygous missense de novo variant c.628G > A (p.Glu210Lys) in the UBTF gene. This variant was recently described as de novo in 11 patients with similar neurodegeneration characterized by developmental decline initially confined to motor development followed by language regression, appearance of an extrapyramidal movement disorder, and leading to severe intellectual disability. In 3 of the 11 patients described so far, seizures were also present. Conclusions Our report expands the complex phenotype of neurodegeneration associated with the c.628G > A variant in the UBTF gene and helps to clarify the relation between this one single recurrent pathogenic variant described in this gene to date and its phenotype. The UBTF gene should be considered a novel candidate gene in neurodegeneration with or without epilepsy. [ABSTRACT FROM AUTHOR]

Published
2019
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34. Public space as an integral part of city infrastructure at the example of Hradec Králové

Author

Sedláčková, Lucie, Kouba, Vojtěch, and Lindner, Milan

Subjects
prostorové plánování, land use, Hradec Králové, art in public space, umění ve veřejném prostoru, Public space, Veřejný prostor
Abstract

The diploma thesis is dealing with public space in the city of Hradec Králové and the main participants that influence the form of public space the inhabitants of the city. The thesis describes the urban development of the city, the implementation of plans in public space and the most important events held. A survey was carried out thanks to which the level of participation of the inhabitants of the city in the events that were held was found out, their aproach towards the public space and the way they saw the changes that were made in the public space. On the whole it summons the recommendations and advice from the inhabitants in this area which is put in contrast with the statement of the authority of Hradec Králové. It also confronts the economic parameters of possible further changes in public space. The thesis results in general advice for the development of public space in the city of Hradec Králové but also in other cities.

Published
2014

35. Leren leven in een schizofrene toestand: Globalisering in de romans van Yasmine Allas en Rachida Lamrabet1.

Author

Sedláčková, Lucie

Abstract

Copyright of Vooys is the property of Stichting Tijdschrift Vooys and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2019

36. Globalization in the contemporary Dutch novel

Author

Sedláčková, Lucie, Krol, Ellen Jacoba, Praamstra, Olf, and Grüttemeier, Ralf

Subjects
analýza diskurzu, social polarization, cosmopolitanism, konzumerismus, kulturní reprezentace, 20th-century Dutch literature, consumerism, cultural representation, discourse analysis, globalization, kosmopolitismus, nizozemská literatura 21. století, sociální polarizace, 21st-century Dutch literature, globalizace, nizozemská literatura 20. století
Abstract

Mgr. Lucie Sedláčková Dissertation Globalization in the Contemporary Dutch Novel Abstract in English This dissertation deals with representations of different aspects of globalization in the contemporary Dutch novel. The main questions are: 1. Which representations of the aspects of globalization can be found in the contemporary Dutch novels analyzed in this dissertation? 2. Are there relations between the knowledge of this phenomenon in specialist literature and in the fiction analyzed in this dissertation? 3. Which points of view do literary texts take with respect to globalization? The research method is based on the theory of cultural representation, but the traditional instruments of literary theory are also employed. The goal of the dissertation is to survey discourse about globalization in the analyzed fiction; the terminology is derived from the specialist, especially sociological, literature on this phenomenon from 1990 on. Globalization is considered a complex process which was accelerated mainly after 1989 by communication technology, the development of the world economy and politics (especially the fall of the Iron Curtain). The survey of literary discourse is divided into three domains: cosmopolitanism (i.e. the conceptual and cultural aspect), consumption and consumerism (the economical...

Published
2011

38. The modern library building, transformation of Czech libraries and their role in the contemporary society

Author

Sedláčková, Lucie, Kouba, Vojtěch, and Richter, Vít

Subjects
industrial monuments, industriální památky, education, Library, vzdělávání, Knihovna, Hradec Kralove, Hradec Králové
Abstract

This Bachelor's Thesis deals with public libraries as cultural and educational institutions that underwent extensive changes in the 20th century as far as their functions are concerned, including their legislative status. At the same time, the architectural form of libraries changed. At present, libraries fulfil their essential roles (storage and disclosure documents) as well as a number of additional functions. Therefore, modern library buildings become multifunctional cultural and social centres of importance for whole communities and catchment areas. The practical part of the Thesis is focused on the city of Hradec Kralove. It excels in a long-term and high-level population enculturation which is closely connected with the high level of local library services. This paper describes the ongoing reconstruction of the former Vertex factory in Hradec Kralove into a new city library building, i.e. The Lifelong Learning Centre.

Published
2011

40. Analysis of Pension System in Germany and Comparison with the Czech Republic

Author

Sedláčková, Lucie, Vopátek, Jiří, and Šimůnková, Iveta

Subjects
problémy důchodového systému, retirement system, problems of retirement system, důchodový systém, reforma důchodového systému, reforms of retirement system
Abstract

Graduation theses Analysis of retirement systém in Germany with fundamental comparison retirement system in Czech republic will analyse retirement systém in Germany. Attention will be apply to reforms already carried out and problematic issues retirement systém. Retirement system than will be compared with retirement system in Czech republic in the main features. Component of the graduation theses will be teoretical solution of selected problems of the retirement system in Czech republic.

Published
2010

42. Úloha proteinů tepelného šoku v patogenezi leukémie, reakce štěpu proti hostiteli, juvenilní idiopatické a revmatoidní artritidě

Author

Sedláčková, Lucie, Hromadníková, Ilona, Říhová, Blanka, and Prokešová, Ludmila

Subjects
chemical and pharmacologic phenomena
Abstract

The aims of the study: Heat shock proteins (Hsps) represent major immunodominant antigens in a wide spectrum of microbial pathogens and immune reactivity against different members of HSP families accompanies many infectious diseases. Known role of Hsps in antigen resentation could also suggest their potential role in the alloreactive process that leads to acute graft versus host disease (GvHD). sequence homology and cross-reactivity between microbial and human Hsps led to the concept that Hsps might be involved in the atiopathogenesis of autoimmune diseases such as juvenile idiopathic arthritis (JIA) and rheumatoid arthritis (RA). The major groups of molecular chaperones have been implicated in cancer development as well and stress-inducible Hsp70 was found to be present on the plasma membrane of tumour cells but not on the corresponding normal tissues. On the basis of previous observations we focused our study on the role of Hsps, namely Hsp60 and Hsp70, in the pathogenesis of leukaemia, graft versus host disease, juvenil idiopathic arthritis and rheumatoid arthritis. Powered by TCPDF (www.tcpdf.org)

Published
2009

43. Islam in Czech mass media (media representation of prophet Muhammad cartoons controversy in Czech newspapers Mladá fronta DNES)

Author

Sedláčková, Lucie, Mareš, Petr, and Šebesta, Karel

Abstract

The thesis results from theory and method of Critical Discourse Analysis. It demonstrates the perspective of media representation of events in selected media texts. The analysis of intertextuality and representation of social actors prove unbalance and bias in daily newspapers Mladá fronta DNES representing Muhammad cartoon controversy (in the end of January until February 2006). The thesis is also concerned with theoretical background of media studies with emphasis on the role of mass media in forming and sustaining of islamophobia and prejudices in society.

Published
2009

45. Dobrovolnická centra v ČR - metodika založení dobrovolnického centra

Author

Sedláčková, Lucie, Vrzáček, Petr, and Cruzová, Dagmar

Subjects
population characteristics, geographic locations
Abstract

This paper focuses on volunteer management and volunteer centers in the Czech Republic and worldwide. It consists of two distinct parts. The first part is devoted to common principles of volunteering and its historical background in the Czech Republic, the United States and EU. Emphasis is also given to programs and purpose of volunteer centers. The aim of the second part is to collect information relating to beginnings of volunteer centers in the Czech Republic by means of qualitative research methods. Another purpose of the research is to provide basic commendations for those who would like to establish a volunteer center in a community. This information may contribute to volunteer management development in the Czech Republic Key words: volunteering, volunteer, volunteer management, volunteer centers, qualitative research

Published
2006

46. Měření spokojenosti zákazníků se službami informačního centra

Author

Navrátilová, Tereza, Sedláčková, Lucie, Navrátilová, Tereza, and Sedláčková, Lucie

Abstract

Cílem diplomové práce je měření spokojenosti zákazníků se službami informačního centra v Uherském Hradišti. Spokojenost byla zjišťována na základě kvantitativního výzkumu, který byl realizován metodou písemného dotazování na vzorku 100 respondentů dotazovaných přímo v informačním centru a 50 respondentů dotazovaných v centru města Uherské Hradiště. Zjištěna data byla analyzována prostřednictvím programu SPSS Statistics. Na základě zjištěných výsledků byly navrženy případná opatření a změny ke zvýšení stávající úrovně spokojenosti zákazníků., The aim of the thesis is to measure customer satisfaction with the services of an information center in Uherské Hradiště. Satisfaction was measured on a quantitative research was carried out by a written inquiries on a sample of 100 respondents interviewed directly at the information center and 50 respondents interviewed in the city center. The gathered information was analyzed through the SPSS Statistics. Based on the results of the proposed changes and possible measures to increase the current level of customer satisfaction., Ve zpracování, Import 04/07/2011

Published
2011

47. CONSUMPTIE EN CONSUMENTISME IN HET RECENTE NEDERLANDSE PROZA.

Author

SEDLÁČKOVÁ, LUCIE

Abstract

Copyright of Acta Universitatis Carolinae Philologica is the property of Charles University Prague, Karolinum Press and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2014

48. Systém pro správu a sledování rybářské činnosti

Author

Beran, Vítězslav, Herout, Adam, Sedláčková, Lucie, Beran, Vítězslav, Herout, Adam, and Sedláčková, Lucie

Abstract

Úkolem této práce bylo provést průzkum mezi uživateli spojenými s rybářskými aktivitami v České Republice. Na základě těchto průzkumů pak navrhnout a implementovat systém sloužící ke správě dat o rybolovu. V průběhu práce na systému také probíhaly iterace testů uživatelské spokojenosti a v reakci na tyto testy byly prováděny náležité úpravy v navrženém systému. Systém je implementován pomocí frameworku Nette v kombinaci s knihovnou Bootstrap jako responzivní webová aplikace., The task of this thesis was to do researches based on information by potential users connected to fishing activities in Czech Republic. After researches finished design and implement system for administration of fishing activities. During the work on system was performed multiple iterations of user testing and in reaction to the tests was made some changes in the system. The system is developped using Nette Framework combine with Bootstrap library as responsive web application.

49. Možnost dalšího využití bezinkových výlisků

Author

Vespalcová, Milena, Pořízka, Jaromír, Sedláčková, Lucie, Vespalcová, Milena, Pořízka, Jaromír, and Sedláčková, Lucie

Abstract

Tato diplomová práce se zabývá přípravou koncentrátu a lyofilizátu z extraktu bezových výlisků (bez černý, Sambucus nigra L.) a stanovením vybraných chemických charakteristik v těchto produktech. Teoretická část obsahuje botanickou charakteristiku rostlinného druhu Sambucus nigra L.. Dále je část věnována biologicky aktivním látkám obsaženým v černém bezu a možnostem využití bezu v potravinářství. Je také obecně popsána extrakce, purifikace a identifikace anthokyanových barviv. V další části je popsána analytická metoda HPLC včetně popisu instrumentace. Poslední kapitola je věnovaná popisu použitých metod: metody k zakoncentrování extraktu, UV-VIS spektrofotometrie, stanovení fenolických látek, stanovení sušiny, stanovení aktivní kyselosti a celkové titrační kyselosti. V experimentální části byl optimalizován postup výroby extraktu z bezových výlisků. Získaný extrakt byl zahuštěn pro následné uchování a byl charakterizován na základě vybraných chemických vlastností. Hlavním parametrem kvality extraktu byl celkový obsah anthokyanových barviv. Nejvhodnějším postupem pro přípravu extraktu byl stanoven poměr výlisků a rozpouštědla 1:2,4 (m/V), nejvhodnějším rozpouštědlem byla směs vody a ethanolu v poměru 1:1 (V/V). Podle požadavků zadavatele byl připraven také extrakt za použití vody jako extrakčního činidla. Připravený extrakt byl pro následné uchování zahušťován na vakuové odparce nebo lyofilizován. Degradace barviv při použití odparky byla nejnižší při teplotě vodní lázně 40 °C. Finální produkty byly charakterizovány stanovením rozpustné sušiny, pH, titrační kyselosti, celkových fenolických látek a celkových anthokyanových barviv. Kapalinovou chromatografií byly identifikovány obsažené anthokyanové pigmenty: kyanidin-3-sambubiosid, kyanidin-3-glukosid, kyanidin-3-sambubiosid-5-glukosid a kyanidin-3,5-diglukosid. Celkový obsah anthokyanů byl v koncentrátu stanoven jako ekvivalent kyanidinu-3-glukosidu na 2,8 gl-1 a v lyofilizátu 2,5 gl-1., This Diploma thesis talks about the production of concentrates and lyophilisate from the extract of elderberry moldlings (elderberry, Sambuvus nigra L.) and by determination by chosen chemical characteristics of these products. The theoretical part includes the botanical characteristics of the plant species Sambucus nigra L. Next is the part that is dedicated to biologicaly active substances found in elderberry and it‘s possible usage in the food industry. Next is the part where the extraction, purification and indentification of anthocyanic dyes are described. In the next part is the analyrical method HPLC described, including the description of instrumentation. The last part talks about the description of the used methods: methods for the concentration of the extract, UV-VIS spectrophotometry, determination of phenolic compounds, determination of dry matter, determination of active acidity and the overall titrating acidity. The experimental part contained the optimalization of the process of producing the extract from elderberry moldings. The extract obtained was then concentrated for preservation and characterization purposes based on selected chemical properties. The total content of anthocyanin dyes was chosen as a quality parameter. The most suitable process for the preparation of the extract was chosen to be the ratio of moldings and solvent 1:2, 4 (m/V). The most suitable solvent was chosen to be a mixture of water and ethanol in a ratio of 1:1 (V/V). According to the needs of the submitter, an extract with the use of water as the extraction agent is also provided. The prepared extract was then concentrated on a vacuum evaporator or lyophilized for storage purposes. The dye degradation while using the evaporator was the lowest in a 40 ° C water bath. The final products were characterized by the determination of soluble solids, pH, titration acidity, total phenolic compounds and total anthocyanin dyes. The anthocyanin pigments contained identified by liquid c

50. Extrakce biologicky aktivních látek z výlisků černého rybízu

Author

Vespalcová, Milena, Štursa, Václav, Sedláčková, Lucie, Vespalcová, Milena, Štursa, Václav, and Sedláčková, Lucie

Abstract

Tato bakalářská práce se zabývá extrakcí biologicky aktivních látek z výlisků černého rybízu (Ribes nigrum). Teoretická část obsahuje botanickou charakteristiku rostlinného druhu Ribes nigrum. Dále je část věnována biologicky aktivním látkám obsaženým v černém rybízu a možnostem jeho využití v potravinářství. Čtvrtá část je věnována popisu fenolických látek, jejich rozdělení a metodám stanovení fenolických látek. Pátá kapitola popisuje vybrané extrakční postupy. V experimentální části práce byly extrahovány suché výlisky z černého rybízu za účelem optimalizovat průběh extrakce a získat co nejvyšší výtěžky barviv. Dále byly stanoveny vybrané chemické a fyzikální charakteristiky šťávy z černého rybízu a extraktů z jeho výlisků. Lepším rozpouštědlem byla směs vody a ethanolu v objemovém poměru 1:1. Po 14 hod. maceraci suchých výlisků bylo získáno ze 100 g suchých výlisků 769,9 mg anthokyanů., This bachelor thesis deals with extraction of bioactive substances from black currant pomace (Ribes nigrum). The theoretical part contains the botanical characteristics of the plant species Ribes nigrum. It is also devoted to the biologically active substances contained in black currant and possibilities of using black currant in the food industry. The fourth chapter deals with description of phenolic compounds, their distribution and methods of determination of phenolic substances. The fifth chapter describes selected extraction procedures. In the experimental part, there were extracted dry black currant pomace in order to optimize the extraction process and obtain the highest yields of dyes. In addition, were determined the selected chemical and physical characteristics of blackcurrant juice and extracts from blackcurrant pomace. A better solvent was a mixture of water and ethanol in a volume ratio of 1:1. After 14 hours maceration of dry pomace, were obtained 769,9 mg anthocyanins per 100 g of dry material.

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