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1. Monitoring risk behaviour in adolescent pupils regarding consumption of psychoactive substances

Author: Paulina Wojtyła-Buciora, Aneta Klimberg, Lucyna Kapka-Skrzypczak, Jarosław Diatczyk, Monika Urbaniak, Ewa Ulatowska-Szostak, Tomasz Bołdowski, Andrzej Wojtyła, and Jerzy T Marcinkowski
Subjects: drugs/narcotics, designer drugs (DDs)/legal highs, adolescents/youth, Agriculture, Environmental sciences, GE1-350
Abstract: Introduction Taking psychoactive substances constitutes a significant problem for Public Health, particularly in preventing drug abuse and addiction. Objectives To estimate the amount and incidence of drug consumption in middle and high school pupils, including the circumstances in which drug taking first started, and to determine pupils’ knowledge about the consequences of taking psychoactive substances and designer drugs (DDs). Material and Methods A randomised study was conducted throughout Poland on 9,360 pupils attending middle school (junior high school) in 2009 and 7,971 pupils from middle and high school pupils in 2011. The survey consisted of a questionnaire devised by the Chief Sanitary Inspectorate (GIS) and the replies obtained were subject to the relevant statistical analyses. Results Drug taking was found to have increased between 2009–2011, especially among those attending high school; proportionally rising from 4% – 11%. The numbers who had ever taken designer drugs were 3% for middle school pupils and 4% from high school. Conclusions 1) Adolescent drug consumption has increased, particularly in those of older age and in boys. 2) Despite the only brief interval for which designer drugs were legal, they have gained high popularity among the young. 3) Adolescents have insufficient knowledge about the dangers of using DDs. 4) Faced with the growing threat of a dynamic designer drug market, appropriate counter-measures in education and prevention are therefore necessary.
Published: 2017
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2. Assessing physical activity and sedentary lifestyle behaviours for children and adolescents living in a district of Poland. What are the key determinants for improving health?

Author: Paulina Wojtyła-Buciora, Barbara Stawińska-Witoszyńska, Krzysztof Wojtyła, Aneta Klimberg, Cezary Wojtyła, Andrzej Wojtyła, Danuta Samolczyk-Wanyura, and Jerzy T. Marcinkowski
Subjects: school, youth, sedentary behavior, Physical activity, Agriculture, Environmental sciences, GE1-350
Abstract: [b]Introduction.[/b] Adequate levels of physical activity throughout an individual’s life ensure an optimal state of health. Only 30% of adolescents and 10% of adults perform sufficient physical activity to facilitate proper physical, psychological/mental and emotional development. [b]Objective[/b]. Determining physical activity behaviour in children and adolescents through surveying the opinions of school pupils and parents, in order to lend support for optimised educational programmes designed to promote healthy lifestyle behaviour, as well as establishing consistent answers. [b]Materials and Methods[/b]. A randomised survey was conducted on two groups of n=1100 pupil subjects, each attending elementary or secondary school, with the former in Classes 5 and 6, whereas the latter were aged between 16–19 years old; in both instances parents were also included in the survey. All subjects came from the Kalisz District in western-central Poland, and were divided into those living in the city of Kalisz and those in the surrounding rural areas. [b]Results[/b]. It was found that 87%, 96% and 89% of elementary, middle and secondary school pupils, respectively, participated in Physical Education (PE) lessons. The numbers of pupils who daily, or almost daily, spent time on a computer, were 52%, 60% and 70%, respectively, for elementary, middle and secondary schools, and likewise 70%, 62% and 48% for watching TV. [b]Conclusions[/b]. It is vital that education programmes with a focus on a healthy lifestyle are introduced and targeted at teenagers in order to promote physical activity during the crucial time of the body’s development. The period of maturing into adulthood is particularly crucial for acquiring the right knowledge, convictions, skills and attitudes that help shape a pro-healthy lifestyle in later years.
Published: 2014

3. Alcohol consumption in Polish middle and high school pupils – has this rapidly increased during 2009–11?

Author: Paulina Wojtyła-Buciora, Cezary Wojtyła, Monika Urbaniak, Lucyna Kapka-Skrzypczak, Andrzej Wojtyła, Julia Diatczyk, Aneta Klimberg, Krzysztof Piotrowski, and Jerzy T. Marcinkowski
Subjects: high school, middle school, adolescents/pupils, alcohol consumption, Agriculture, Environmental sciences, GE1-350
Abstract: [b]Introduction.[/b] The dynamic rise of alcohol consumption in adolescents is a matter of serious concern, requiring frequently updated monitoring. By such means, it is possible to optimise preventative measures for dealing with this problem. [b]Objective[/b]. To estimate the magnitude/amount and frequency of alcohol consumed by middle and high school pupils in Poland, including the circumstances when alcohol was first drunk. [b]Materials and Methods[/b]. A randomised survey was performed throughout Poland on middle school (junior high school) pupils, (n=9360) in 2009, followed by both middle and high school pupils in 2011 (n=7971). The questionnaire was devised by the Polish Chief Sanitary Inspectorate (GIS). [b]Results[/b]. A strikingly sharp increase in alcohol consumption (29%) was observed in subjects between 2009 – 2011. In the latter year, 1 month prior to survey, respectively, 50% and 71% of middle school and high school pupils drank alcohol, and correspondingly, 36% and 63% of these pupils ever became intoxicated/drunk. [b]Conclusions[/b]. 1) Adolescent alcohol consumption increases with age and is highest in girls. Monitoring as well as in-depth analysis thus becomes necessary. 2) Systematic monitoring and analysis of changing healthy lifestyle behaviour should be used for taking the necessary corrective action. This should happen concurrently and consist of planned health education programmes, including health promotion.
Published: 2014

4. Identification of genetic variants associated with Huntington's disease progression

Author: Davina J Hensman Moss, Antonio F Pardiñas, Douglas Langbehn, Kitty Lo, Blair R Leavitt, Raymund Roos, Alexandra Durr, Simon Mead, Peter Holmans, Lesley Jones, Sarah J Tabrizi, A Coleman, R Dar Santos, J Decolongon, A Sturrock, E Bardinet, C Jauff Ret, D Justo, S Lehericy, C Marelli, K Nigaud, R Valabrègue, SJA van den Bogaard, E M Dumas, J van der Grond, EP t'Hart, C Jurgens, M-N Witjes-Ane, N Arran, J Callaghan, C Stopford, C Frost, R Jones, N Hobbs, N Lahiri, R Ordidge, G Owen, T Pepple, J Read, M Say, E Wild, A Patel, N C Fox, C Gibbard, I Malone, H Crawford, D Whitehead, S Keenan, D M Cash, C Berna, N Bechtel, S Bohlen, A Hoff Man, P Kraus, E Axelson, C Wang, T Acharya, S Lee, W Monaco, C Campbell, S Queller, K Whitlock, M Campbell, E Frajman, C Milchman, A O'Regan, I Labuschagne, J Stout, B Landwehrmeyer, D Craufurd, R Scahill, S Hicks, C Kennard, H Johnson, A Tobin, HD Rosas, R Reilmann, B Borowsky, C Pourchot, S C Andrews, Anne-Catherine Bachoud-Lévi, Anna Rita Bentivoglio, Ida Biunno, Raphael Bonelli, Jean-Marc Burgunder, Stephen Dunnett, Joaquim Ferreira, Olivia Handley, Arvid Heiberg, Torsten Illmann, G. Bernhard Landwehrmeyer, Jamie Levey, Maria A. Ramos-Arroyo, Jørgen Nielsen, Susana Pro Koivisto, Markku Päivärinta, Raymund A.C. Roos, A Rojo Sebastián, Sarah Tabrizi, Wim Vandenberghe, Christine Verellen-Dumoulin, Tereza Uhrova, Jan Wahlström, Jacek Zaremba, Verena Baake, Katrin Barth, Monica Bascuñana Garde, Sabrina Betz, Reineke Bos, Jenny Callaghan, Adrien Come, Leonor Correia Guedes, Daniel Ecker, Ana Maria Finisterra, Ruth Fullam, Mette Gilling, Lena Gustafsson, Olivia J Handley, Carina Hvalstedt, Christine Held, Kerstin Koppers, Claudia Lamanna, Matilde Laurà, Asunción Martínez Descals, Saül Martinez-Horta, Tiago Mestre, Sara Minster, Daniela Monza, Lisanne Mütze, Martin Oehmen, Michael Orth, Hélène Padieu, Laurent Paterski, Nadia Peppa, Martina Di Renzo, Amandine Rialland, Niini Røren, Pavla Šašinková, Erika Timewell, Jenny Townhill, Patricia Trigo Cubillo, Wildson Vieira da Silva, Marleen R van Walsem, Carina Whalstedt, Marie-Noelle Witjes-Ané, Grzegorz Witkowski, Abigail Wright, Daniel Zielonka, Eugeniusz Zielonka, Paola Zinzi, Raphael M. Bonelli, Sabine Lilek, Karen Hecht, Brigitte Herranhof, Anna Holl, Hans-Peter Kapfhammer, Michael Koppitz, Markus Magnet, Nicole Müller, Daniela Otti, Annamaria Painold, Karin Reisinger, Monika Scheibl, Helmut Schöggl, Jasmin Ullah, Eva-Maria Braunwarth, Florian Brugger, Lisa Buratti, Eva-Maria Hametner, Caroline Hepperger, Christiane Holas, Anna Hotter, Anna Hussl, Christoph Müller, Werner Poewe, Klaus Seppi, Fabienne Sprenger, Gregor Wenning, Andrea Boogaerts, Godelinde Calmeyn, Isabelle Delvaux, Dirk Liessens, Nele Somers, Michel Dupuit, Cécile Minet, Dominique van Paemel, Pascale Ribaï, Dimphna van Reijen, Jirí Klempír, Veronika Majerová, Jan Roth, Irena Stárková, Lena E. Hjermind, Oda Jacobsen, Jørgen E. Nielsen, Ida Unmack Larsen, Tua Vinther-Jensen, Heli Hiivola, Hannele Hyppönen, Kirsti Martikainen, Katri Tuuha, Philippe Allain, Dominique Bonneau, Marie Bost, Bénédicte Gohier, Marie-Anne Guérid, Audrey Olivier, Adriana Prundean, Clarisse Scherer-Gagou, Christophe Verny, Blandine Babiloni, Sabrina Debruxelles, Charlotte Duché, Cyril Goizet, Laetitia Jameau, Danielle Lafoucrière, Umberto Spampinato, Rekha Barthélémy, Christelle De Bruycker, Maryline Cabaret Anne-Sophie Carette, Eric Decorte Luc Defebvre, Marie Delliaux, Arnaud Delval, Alain Destee, Kathy Dujardin, Marie-Hélène Lemaire, Sylvie Manouvrier, Mireille Peter, Lucie Plomhouse, Bernard Sablonnière, Clémence Simonin, Stéphanie Thibault-Tanchou, Isabelle Vuillaume, Marcellin Bellonet, Hassan Berrissoul, Stéphanie Blin, Françoise Courtin, Cécile Duru, Véronique Fasquel, Olivier Godefroy, Pierre Krystkowiak, Béatrice Mantaux, Martine Roussel, Sandrine Wannepain, Jean-Philippe Azulay, Marie Delfini, Alexandre Eusebio, Frédérique Fluchere, Laura Mundler, Mathieu Anheim, Celine Julié, Ouhaid Lagha Boukbiza, Nadine Longato, Gabrielle Rudolf, Christine Tranchant, Marie-Agathe Zimmermann, Christoph Michael Kosinski, Eva Milkereit, Daniela Probst, Kathrin Reetz, Christian Sass, Johannes Schiefer, Christiane Schlangen, Cornelius J. Werner, Harald Gelderblom, Josef Priller, Harald Prüß, Eike Jakob Spruth, Gisa Ellrichmann, Lennard Herrmann, Rainer Hoffmann, Barbara Kaminski, Peter Kotz, Christian Prehn, Carsten Saft, Herwig Lange, Robert Maiwald, Matthias Löhle, Antonia Maass, Simone Schmidt, Cecile Bosredon, Alexander Storch, Annett Wolz, Martin Wolz, Philipp Capetian, Johann Lambeck, Birgit Zucker, Kai Boelmans, Christos Ganos, Walburgis Heinicke, Ute Hidding, Jan Lewerenz, Alexander Münchau, Jenny Schmalfeld, Lars Stubbe, Simone Zittel, Gabriele Diercks, Dirk Dressler, Heike Gorzolla, Christoph Schrader, Pawel Tacik, Michael Ribbat, Bernhard Longinus, Katrin Bürk, Jens Carsten Möller, Ida Rissling, Mark Mühlau, Alexander Peinemann, Michael Städtler, Adolf Weindl, Juliane Winkelmann, Cornelia Ziegler, Natalie Bechtel, Heike Beckmann, Stefan Bohlen, Eva Hölzner, Ralf Reilmann, Stefanie Rohm, Silke Rumpf, Sigrun Schepers, Natalia Weber, Matthias Dose, Gabriele Leythäuser, Ralf Marquard, Tina Raab, Alexandra Wiedemann, Andrea Buck, Julia Connemann, Carolin Geitner, Andrea Kesse, Bernhard Landwehrmeyer, Christina Lang, Franziska Lezius, Solveig Nepper, Anke Niess, Ariane Schneider, Daniela Schwenk, Sigurd Süßmuth, Sonja Trautmann, Patrick Weydt, Claudia Cormio, Vittorio Sciruicchio, Claudia Serpino, Marina de Tommaso, Sabina Capellari, Pietro Cortelli, Roberto Galassi, Giovanni Rizzo, Roberto Poda, Cesa Scaglione, Elisabetta Bertini, Elena Ghelli, Andrea Ginestroni, Francesca Massaro, Claudia Mechi, Marco Paganini, Silvia Piacentini, Silvia Pradella, Anna Maria Romoli, Sandro Sorbi, Giovanni Abbruzzese, Monica Bandettini di Poggio, Giovanna Ferrandes, Paola Mandich, Roberta Marchese, Alberto Albanese, Daniela Di Bella, Anna Castaldo, Stefano Di Donato, Cinzia Gellera, Silvia Genitrini, Caterina Mariotti, Lorenzo Nanetti, Dominga Paridi, Paola Soliveri, Chiara Tomasello, Giuseppe De Michele, Luigi Di Maio, Marco Massarelli, Silvio Peluso, Alessandro Roca, Cinzia Valeria Russo, Elena Salvatore, Pierpaolo Sorrentino, Enrico Amico, Mariagrazia Favellato, Annamaria Griguoli, Irene Mazzante, Martina Petrollini, Ferdinando Squitieri, Barbara D'Alessio, Chiara Esposito, Rita Bentivoglio, Marina Frontali, Arianna Guidubaldi, Tamara Ialongo, Gioia Jacopini, Carla Piano, Silvia Romano, Francesco Soleti, Maria Spadaro, Monique S.E. van Hout, Marloes E. Verhoeven, Jeroen P.P. van Vugt, A. Marit de Weert, J.J.W. Bolwijn, M. Dekker, B. Kremer, K.L. Leenders, J.C.H. van Oostrom, Simon J.A. van den Bogaard, Eve M. Dumas, Ellen P. 't Hart, Berry Kremer, C.C.P. Verstappen, Olaf Aaserud, Jan Frich C, Ragnhild Wehus, Kathrine Bjørgo, Madeleine Fannemel, Per F. Gørvell, Eirin Lorentzen, Lars Retterstøl, Bodil Stokke, Inga Bjørnevoll, Sigrid Botne Sando, Artur Dziadkiewicz, Malgorzata Nowak, Piotr Robowski, Emilia Sitek, Jaroslaw Slawek, Witold Soltan, Michal Szinwelski, Magdalena Blaszcyk, Magdalena Boczarska-Jedynak, Ewelina Ciach-Wysocka, Agnieszka Gorzkowska, Barbara Jasinska-Myga, Gabriela Klodowska-Duda, Gregorz Opala, Daniel Stompel, Krzysztof Banaszkiewicz, Dorota Bocwinska, Kamila Bojakowska-Jaremek, Malgorzata Dec, Malgorzata Krawczyk, Monika Rudzinska, Elzbieta Szczygiel, Andrzej Szczudlik, Anna Wasielewska, Magdalena Wójcik, Anna Bryl, Anna Ciesielska, Aneta Klimberg, Jerzy Marcinkowski, Husam Samara, Justyna Sempolowicz, Anna Gogol, Piotr Janik, Hubert Kwiecinski, Zygmunt Jamrozik, Jakub Antczak, Katarzyna Jachinska, Wioletta Krysa, Maryla Rakowicz, Przemyslaw Richter, Rafal Rola, Danuta Ryglewicz, Halina Sienkiewicz-Jarosz, Iwona Stepniak, Anna Sulek, Elzbieta Zdzienicka, Karolina Zieora-Jakutowicz, Joaquim J Ferreira, Miguel Coelho, Tiago Mendes, Anabela Valadas, Carlos Andrade, Miguel Gago, Carolina Garrett, Maria Rosália Guerra, Carmen Durán Herrera, Patrocinio Moreno Garcia, Miquel Aguilar Barbera, Dolors Badenes Guia, Laura Casas Hernanz, Judit López Catena, Pilar Quiléz Ferrer, Ana Rojo Sebastián, Gemma Tome Carruesco, Jordi Bas, Núria Busquets, Matilde Calopa, Misericordia Floriach Robert, Celia Mareca Viladrich, Jesús Miguel Ruiz Idiago, Antonio Villa Riballo, Esther Cubo, Cecilia Gil Polo, Natividad Mariscal, Perez Jessica Rivadeneyra, Francisco Barrero, Blas Morales, María Fenollar, Rocío García-Ramos García, Paloma Ortega, Clara Villanueva, Javier Alegre, Mónica Bascuñana, Juan Garcia Caldentey, Marta Fatás Ventura, Guillermo García Ribas, Justo García de Yébenes, José Luis López-Sendón Moreno, Fernando Alonso Frech, Pedro J García Ruíz, Asunción Martínez-Descals, Rosa Guerrero, María José Saiz Artiga, Vicenta Sánchez, María Fuensanta Noguera Perea, Lorenza Fortuna, Salvadora Manzanares, Gema Reinante, María Martirio Antequera Torres, Laura Vivancos Moreau, Sonia González González, Luis Menéndez Guisasola, Carlos Salvador, Esther Suaréz San Martín, Inés Legarda Ramirez, Aranzazú Gorospe, Mónica Rodriguez Lopera, Penelope Navas Arques, María José Torres Rodríguez, Barbara Vives Pastor, Itziar Gaston, Maria Dolores Martinez-Jaurrieta, Jose Manuel Garcia Moreno, Carolina Mendez Lucena, Fatima Damas, Hermoso Eva Pacheco Cortegana, José Chacón Peña, Luis Redondo, Fátima Carrillo, María Teresa Cáceres, Pablo Mir, María José Lama Suarez, Laura Vargas-González, Maria E. Bosca, Francisco Castera Brugada, Juan Andres Burguera, Anabel Campos, Garcia Carmen Peiró Vilaplana, Peter Berglund, Radu Constantinescu, Gunnel Fredlund, Ulrika Høsterey-Ugander, Petra Linnsand, Liselotte Neleborn-Lingefjärd, Magnus Wentzel, Ghada Loutfi, Carina Olofsson, Eva-Lena Stattin, Laila Westman, Birgitta Wikström, Yanik Stebler, Alain Kaelin, Irene Romero, Michael Schüpbach, Sabine Weber Zaugg, Maria Hauer, Roman Gonzenbach, Hans H. Jung, Violeta Mihaylova, Jens Petersen, Roisin Jack, Kirsty Matheson, Zosia Miedzybrodzka, Daniela Rae, Sheila A Simpson, Fiona Summers, Alexandra Ure, Vivien Vaughan, Shahbana Akhtar, Jenny Crooks, Adrienne Curtis, Jenny de Souza, John Piedad, Hugh Rickards, Jan Wright, Elizabeth Coulthard, Louise Gethin, Beverley Hayward, Kasia Sieradzan, Matthew Armstrong, Roger A. Barker, Deidre O'Keefe, Anna Di Pietro, Kate Fisher, Anna Goodman, Susan Hill, Ann Kershaw, Sarah Mason, Nicole Paterson, Lucy Raymond, Rachel Swain, Natalie Valle Guzman, Monica Busse, Cynthia Butcher, Catherine Clenaghan, Sarah Hunt, Una Jones, Hanan Khalil, Michael Owen, Kathleen Price, Anne Rosser, Maureen Edwards, Carrie Ho, Teresa Hughes, Marie McGill, Pauline Pearson, Mary Porteous, Paul Smith, Peter Brockie, Jillian Foster, Nicola Johns, Sue McKenzie, Jean Rothery, Gareth Thomas, Shona Yates, Liz Burrows, Carol Chu, Amy Fletcher, Deena Gallantrae, Stephanie Hamer, Alison Harding, Stefan Klöppel, Alison Kraus, Fiona Laver, Monica Lewis, Mandy Longthorpe, Ivana Markova, Ashok Raman, Nicola Robertson, Mark Silva, Aileen Thomson, Sue Wild, Pam Yardumian, Carole Evans, Deena Gallentrae, Emma Hobson, Stuart Jamieson, Hannah Musgrave, Liz Rowett, Jean Toscano, Colin Bourne, Jackie Clapton, Carole Clayton, Heather Dipple, Dawn Freire-Patino, Janet Grant, Diana Gross, Caroline Hallam, Julia Middleton, Ann Murch, Catherine Thompson, Sundus Alusi, Rhys Davies, Kevin Foy, Emily Gerrans, Louise Pate, Thomasin Andrews, Andrew Dougherty, Charlotte Golding, Fred Kavalier, Hana Laing, Alison Lashwood, Dene Robertson, Deborah Ruddy, Alastair Santhouse, Anna Whaite, Stefania Bruno, Karen Doherty, Salman Haider, Davina Hensman, Nayana Lahiri, Marianne Novak, Aakta Patel, Elisabeth Rosser, Rachel Taylor, Thomas Warner, Edward Wild, Natalie Arran, Judith Bek, David Craufurd, Marianne Hare, Liz Howard, Susan Huson, Liz Johnson, Mary Jones, Helen Murphy, Emma Oughton, Lucy Partington-Jones, Dawn Rogers, Andrea Sollom, Julie Snowden, Cheryl Stopford, Jennifer Thompson, Iris Trender-Gerhard, Nichola Verstraelen, Leann Westmoreland, Richard Armstrong, Kathryn Dixon, Andrea H Nemeth, Gill Siuda, Ruth Valentine, David Harrison, Max Hughes, Andrew Parkinson, Beverley Soltysiak, Oliver Bandmann, Alyson Bradbury, Paul Gill, Helen Fairtlough, Kay Fillingham, Isabella Foustanos, Mbombe Kazoka, Kirsty O'Donovan, Cat Taylor, Katherine Tidswell, Oliver Quarrell, Puay Ngoh Lau, Emmanul Pica, Louis Tan, Univ Angers, Okina, Moss, Davina J. Hensman, Tabrizi, Sarah J, Mead, Simon, Kitty, Lo, Pardiã±as, Antonio F, Holmans, Peter, Jones, Lesley, Langbehn, Dougla, Coleman, A., Santos, R. Dar, Decolongon, J., Sturrock, A., Bardinet, E., Ret, C. Jauff, Justo, D., Lehericy, S., Marelli, C., Nigaud, K., Valabrãgue, R., van den Bogaard, S. J. A., Dumas, E. M., van der Grond, J., T'Hart, E. P., Jurgens, C., Witjes-Ane, M. -. N., Arran, N., Callaghan, J., Stopford, C., Frost, C., Jones, R., Hobbs, N., Lahiri, N., Ordidge, R., Owen, G., Pepple, T., Read, J., Say, M., Wild, E., Patel, A., Fox, N. C., Gibbard, C., Malone, I., Crawford, H., Whitehead, D., Keenan, S., Cash, D. M., Berna, C., Bechtel, N., Bohlen, S., Man, A. Hoff, Kraus, P., Axelson, E., Wang, C., Acharya, T., Lee, S., Monaco, W., Campbell, C., Queller, S., Whitlock, K., Campbell, M., Frajman, E., Milchman, C., O'Regan, A., Labuschagne, I., Stout, J., Landwehrmeyer, B., Craufurd, D., Scahill, R., Hicks, S., Kennard, C., Johnson, H., Tobin, A., Rosas, H. D., Reilmann, R., Borowsky, B., Pourchot, C., Andrews, S. C., Bachoud-LÃ©vi, Anne-Catherine, Bentivoglio, Anna Rita, Biunno, Ida, Bonelli, Raphael, Burgunder, Jean-Marc, Dunnett, Stephen, Ferreira, Joaquim, Handley, Olivia, Heiberg, Arvid, Illmann, Torsten, Landwehrmeyer, G. Bernhard, Levey, Jamie, Ramos-Arroyo, Maria A., Nielsen, Jã¸rgen, Koivisto, Susana Pro, Pã¤ivã¤rinta, Markku, Roos, Raymund A. C., Sebastiã¡n, A. Rojo, Tabrizi, Sarah, Vandenberghe, Wim, Verellen-Dumoulin, Christine, Uhrova, Tereza, Wahlstrã¶m, Jan, Zaremba, Jacek, Baake, Verena, Barth, Katrin, Garde, Monica BascuÃ±ana, Betz, Sabrina, Bos, Reineke, Callaghan, Jenny, Come, Adrien, Guedes, Leonor Correia, Ecker, Daniel, Finisterra, Ana Maria, Fullam, Ruth, Gilling, Mette, Gustafsson, Lena, Handley, Olivia J, Hvalstedt, Carina, Held, Christine, Koppers, Kerstin, Lamanna, Claudia, Laurã , Matilde, Descals, AsunciÃ³n MartÃnez, Martinez-Horta, Saã¼l, Mestre, Tiago, Minster, Sara, Monza, Daniela, Mã¼tze, Lisanne, Oehmen, Martin, Orth, Michael, Padieu, Hã©lãne, Paterski, Laurent, Peppa, Nadia, Di Renzo, Martina, Rialland, Amandine, Rã¸ren, Niini, Å aå¡inkovã¡, Pavla, Timewell, Erika, Townhill, Jenny, Cubillo, Patricia Trigo, da Silva, Wildson Vieira, van Walsem, Marleen R, Whalstedt, Carina, Witjes-AnÃ©, Marie-Noelle, Witkowski, Grzegorz, Wright, Abigail, Zielonka, Daniel, Zielonka, Eugeniusz, Zinzi, Paola, Bonelli, Raphael M., Lilek, Sabine, Hecht, Karen, Herranhof, Brigitte, Holl, Anna, Kapfhammer, Hans-Peter, Koppitz, Michael, Magnet, Marku, Mã¼ller, Nicole, Otti, Daniela, Painold, Annamaria, Reisinger, Karin, Scheibl, Monika, Schã¶ggl, Helmut, Ullah, Jasmin, Braunwarth, Eva-Maria, Brugger, Florian, Buratti, Lisa, Hametner, Eva-Maria, Hepperger, Caroline, Holas, Christiane, Hotter, Anna, Hussl, Anna, Mã¼ller, Christoph, Poewe, Werner, Seppi, Klau, Sprenger, Fabienne, Wenning, Gregor, Boogaerts, Andrea, Calmeyn, Godelinde, Delvaux, Isabelle, Liessens, Dirk, Somers, Nele, Dupuit, Michel, Minet, Cã©cile, van Paemel, Dominique, Ribaã¯, Pascale, van Reijen, Dimphna, Klempãr, Jirã, Majerovã¡, Veronika, Roth, Jan, Stã¡rkovã¡, Irena, Hjermind, Lena E., Jacobsen, Oda, Nielsen, JÃ¸rgen E., Larsen, Ida Unmack, Vinther-Jensen, Tua, Hiivola, Heli, Hyppã¶nen, Hannele, Martikainen, Kirsti, Tuuha, Katri, Allain, Philippe, Bonneau, Dominique, Bost, Marie, Gohier, Bã©nã©dicte, Guã©rid, Marie-Anne, Olivier, Audrey, Prundean, Adriana, Scherer-Gagou, Clarisse, Verny, Christophe, Babiloni, Blandine, Debruxelles, Sabrina, Duchã©, Charlotte, Goizet, Cyril, Jameau, Laetitia, Lafoucriãre, Danielle, Spampinato, Umberto, Barthã©lã©my, Rekha, De Bruycker, Christelle, Carette, Maryline Cabaret Anne-Sophie, Defebvre, Eric Decorte Luc, Delliaux, Marie, Delval, Arnaud, Destee, Alain, Dujardin, Kathy, Lemaire, Marie-HÃ©lÃne, Manouvrier, Sylvie, Peter, Mireille, Plomhouse, Lucie, Sablonniãre, Bernard, Simonin, Clã©mence, Thibault-Tanchou, Stã©phanie, Vuillaume, Isabelle, Bellonet, Marcellin, Berrissoul, Hassan, Blin, Stã©phanie, Courtin, Franã§oise, Duru, Cã©cile, Fasquel, Vã©ronique, Godefroy, Olivier, Krystkowiak, Pierre, Mantaux, Bã©atrice, Roussel, Martine, Wannepain, Sandrine, Azulay, Jean-Philippe, Delfini, Marie, Eusebio, Alexandre, Fluchere, Frã©dã©rique, Mundler, Laura, Anheim, Mathieu, Juliã©, Celine, Boukbiza, Ouhaid Lagha, Longato, Nadine, Rudolf, Gabrielle, Tranchant, Christine, Zimmermann, Marie-Agathe, Kosinski, Christoph Michael, Milkereit, Eva, Probst, Daniela, Reetz, Kathrin, Sass, Christian, Schiefer, Johanne, Schlangen, Christiane, Werner, Cornelius J., Gelderblom, Harald, Priller, Josef, Prã¼ã , Harald, Spruth, Eike Jakob, Ellrichmann, Gisa, Herrmann, Lennard, Hoffmann, Rainer, Kaminski, Barbara, Kotz, Peter, Prehn, Christian, Saft, Carsten, Lange, Herwig, Maiwald, Robert, Lã¶hle, Matthia, Maass, Antonia, Schmidt, Simone, Bosredon, Cecile, Storch, Alexander, Wolz, Annett, Wolz, Martin, Capetian, Philipp, Lambeck, Johann, Zucker, Birgit, Boelmans, Kai, Ganos, Christo, Heinicke, Walburgi, Hidding, Ute, Lewerenz, Jan, Mã¼nchau, Alexander, Schmalfeld, Jenny, Stubbe, Lar, Zittel, Simone, Diercks, Gabriele, Dressler, Dirk, Gorzolla, Heike, Schrader, Christoph, Tacik, Pawel, Ribbat, Michael, Longinus, Bernhard, Bã¼rk, Katrin, Mã¶ller, Jens Carsten, Rissling, Ida, Mã¼hlau, Mark, Peinemann, Alexander, Stã¤dtler, Michael, Weindl, Adolf, Winkelmann, Juliane, Ziegler, Cornelia, Bechtel, Natalie, Beckmann, Heike, Bohlen, Stefan, Hã¶lzner, Eva, Reilmann, Ralf, Rohm, Stefanie, Rumpf, Silke, Schepers, Sigrun, Weber, Natalia, Dose, Matthia, Leythã¤user, Gabriele, Marquard, Ralf, Raab, Tina, Wiedemann, Alexandra, Buck, Andrea, Connemann, Julia, Geitner, Carolin, Kesse, Andrea, Landwehrmeyer, Bernhard, Lang, Christina, Lezius, Franziska, Nepper, Solveig, Niess, Anke, Schneider, Ariane, Schwenk, Daniela, Sã¼ã muth, Sigurd, Trautmann, Sonja, Weydt, Patrick, Cormio, Claudia, Sciruicchio, Vittorio, Serpino, Claudia, de Tommaso, Marina, Capellari, Sabina, Cortelli, Pietro, Galassi, Roberto, Rizzo, Giovanni, Poda, Roberto, Scaglione, Cesa, Bertini, Elisabetta, Ghelli, Elena, Ginestroni, Andrea, Massaro, Francesca, Mechi, Claudia, Paganini, Marco, Piacentini, Silvia, Pradella, Silvia, Romoli, Anna Maria, Sorbi, Sandro, Abbruzzese, Giovanni, di Poggio, Monica Bandettini, Ferrandes, Giovanna, Mandich, Paola, Roberta, Marchese, Albanese, Alberto, Di Bella, Daniela, Castaldo, Anna, Di Donato, Stefano, Gellera, Cinzia, Genitrini, Silvia, Mariotti, Caterina, Nanetti, Lorenzo, Paridi, Dominga, Soliveri, Paola, Tomasello, Chiara, De Michele, Giuseppe, Di Maio, Luigi, Massarelli, Marco, Peluso, Silvio, Roca, Alessandro, Russo, Cinzia Valeria, Salvatore, Elena, Sorrentino, Pierpaolo, Amico, Enrico, Favellato, Mariagrazia, Griguoli, Annamaria, Mazzante, Irene, Petrollini, Martina, Squitieri, Ferdinando, D'Alessio, Barbara, Esposito, Chiara, Bentivoglio, Rita, Frontali, Marina, Guidubaldi, Arianna, Ialongo, Tamara, Jacopini, Gioia, Piano, Carla, Romano, Silvia, Soleti, Francesco, Spadaro, Maria, van Hout, Monique S. E., Verhoeven, Marloes E., van Vugt, Jeroen P. P., de Weert, A. Marit, Bolwijn, J. J. W., Dekker, M., Kremer, B., Leenders, K. L., van Oostrom, J. C. H., van den Bogaard, Simon J. A., Dumas, Eve M., â t Hart, Ellen P., Kremer, Berry, Verstappen, C. C. P., Aaserud, Olaf, Jan Frich, C., Wehus, Ragnhild, Bjã¸rgo, Kathrine, Fannemel, Madeleine, Gã¸rvell, Per F., Lorentzen, Eirin, Retterstã¸l, Lar, Stokke, Bodil, Bjã¸rnevoll, Inga, Sando, Sigrid Botne, Dziadkiewicz, Artur, Nowak, Malgorzata, Robowski, Piotr, Sitek, Emilia, Slawek, Jaroslaw, Soltan, Witold, Szinwelski, Michal, Blaszcyk, Magdalena, Boczarska-Jedynak, Magdalena, Ciach-Wysocka, Ewelina, Gorzkowska, Agnieszka, Jasinska-Myga, Barbara, Klodowska-Duda, Gabriela, Opala, Gregorz, Stompel, Daniel, Banaszkiewicz, Krzysztof, Bocwinska, Dorota, Bojakowska-Jaremek, Kamila, Dec, Malgorzata, Krawczyk, Malgorzata, Rudzinska, Monika, Szczygiel, Elzbieta, Szczudlik, Andrzej, Wasielewska, Anna, Wã³jcik, Magdalena, Bryl, Anna, Ciesielska, Anna, Klimberg, Aneta, Marcinkowski, Jerzy, Samara, Husam, Sempolowicz, Justyna, Gogol, Anna, Janik, Piotr, Kwiecinski, Hubert, Jamrozik, Zygmunt, Antczak, Jakub, Jachinska, Katarzyna, Krysa, Wioletta, Rakowicz, Maryla, Richter, Przemyslaw, Rola, Rafal, Ryglewicz, Danuta, Sienkiewicz-Jarosz, Halina, Stepniak, Iwona, Sulek, Anna, Zdzienicka, Elzbieta, Zieora-Jakutowicz, Karolina, Ferreira, Joaquim J, Coelho, Miguel, Mendes, Tiago, Valadas, Anabela, Andrade, Carlo, Gago, Miguel, Garrett, Carolina, Guerra, Maria RosÃ¡lia, Herrera, Carmen DurÃ¡n, Garcia, Patrocinio Moreno, Barbera, Miquel Aguilar, Guia, Dolors Badene, Hernanz, Laura Casa, Catena, Judit LÃ³pez, Ferrer, Pilar QuilÃ©z, Sebastiã¡n, Ana Rojo, Carruesco, Gemma Tome, Bas, Jordi, Busquets, Nãºria, Calopa, Matilde, Robert, Misericordia Floriach, Viladrich, Celia Mareca, Idiago, JesÃºs Miguel Ruiz, Riballo, Antonio Villa, Cubo, Esther, Polo, Cecilia Gil, Mariscal, Natividad, Rivadeneyra, Perez Jessica, Barrero, Francisco, Morales, Bla, Fenollar, Marãa, Garcãa, RocÃo GarcÃa-Ramo, Ortega, Paloma, Villanueva, Clara, Alegre, Javier, Bascuã±ana, Mã³nica, Caldentey, Juan Garcia, Ventura, Marta FatÃ¡, Ribas, Guillermo GarcÃa, de YÃ©benes, Justo GarcÃa, Moreno, JosÃ© Luis LÃ³pez-SendÃ³n, Frech, Fernando Alonso, Ruãz, Pedro J. GarcÃa, MartÃnez-Descals, Asunciã³n, Guerrero, Rosa, Artiga, MarÃa JosÃ© Saiz, Sã¡nchez, Vicenta, Perea, MarÃa Fuensanta Noguera, Fortuna, Lorenza, Manzanares, Salvadora, Reinante, Gema, Torres, MarÃa Martirio Antequera, Moreau, Laura Vivanco, GonzÃ¡lez GonzÃ¡lez, Sonia, Guisasola, Luis MenÃ©ndez, Salvador, Carlo, Martãn, Esther SuarÃ©z San, Ramirez, InÃ©s Legarda, Gorospe, Aranzazãº, Lopera, MÃ³nica Rodriguez, Arques, Penelope Nava, Rodrãguez, MarÃa JosÃ© Torre, Pastor, Barbara Vive, Gaston, Itziar, Martinez-Jaurrieta, Maria Dolore, Moreno, Jose Manuel Garcia, Lucena, Carolina Mendez, Damas, Fatima, Cortegana, Hermoso Eva Pacheco, Peã±a, JosÃ© ChacÃ³n, Redondo, Lui, Carrillo, Fã¡tima, Teresa CÃ¡ceres, Marãa, Mir, Pablo, Suarez, MarÃa JosÃ© Lama, Vargas-GonzÃ¡lez, Laura, Bosca, Maria E., Brugada, Francisco Castera, Burguera, Juan Andre, Campos, Anabel, Vilaplana, Garcia Carmen PeirÃ³, Berglund, Peter, Constantinescu, Radu, Fredlund, Gunnel, HÃ¸sterey-Ugander, Ulrika, Linnsand, Petra, Neleborn-LingefjÃ¤rd, Liselotte, Wentzel, Magnu, Loutfi, Ghada, Olofsson, Carina, Stattin, Eva-Lena, Westman, Laila, Wikstrã¶m, Birgitta, Stebler, Yanik, Kaelin, Alain, Romero, Irene, Schã¼pbach, Michael, Weber Zaugg, Sabine, Hauer, Maria, Gonzenbach, Roman, Jung, Hans H., Mihaylova, Violeta, Petersen, Jen, Jack, Roisin, Matheson, Kirsty, Miedzybrodzka, Zosia, Rae, Daniela, Simpson, Sheila A, Summers, Fiona, Ure, Alexandra, Vaughan, Vivien, Akhtar, Shahbana, Crooks, Jenny, Curtis, Adrienne, de Souza, Jenny, Piedad, John, Rickards, Hugh, Wright, Jan, Coulthard, Elizabeth, Gethin, Louise, Hayward, Beverley, Sieradzan, Kasia, Armstrong, Matthew, Barker, Roger A., O'Keefe, Deidre, Di Pietro, Anna, Fisher, Kate, Goodman, Anna, Hill, Susan, Kershaw, Ann, Mason, Sarah, Paterson, Nicole, Raymond, Lucy, Swain, Rachel, Guzman, Natalie Valle, Busse, Monica, Butcher, Cynthia, Clenaghan, Catherine, Hunt, Sarah, Jones, Una, Khalil, Hanan, Owen, Michael, Price, Kathleen, Rosser, Anne, Edwards, Maureen, Carrie, Ho, Hughes, Teresa, Mcgill, Marie, Pearson, Pauline, Porteous, Mary, Smith, Paul, Brockie, Peter, Foster, Jillian, Johns, Nicola, Mckenzie, Sue, Rothery, Jean, Thomas, Gareth, Yates, Shona, Burrows, Liz, Chu, Carol, Fletcher, Amy, Gallantrae, Deena, Hamer, Stephanie, Harding, Alison, Klã¶ppel, Stefan, Kraus, Alison, Laver, Fiona, Lewis, Monica, Longthorpe, Mandy, Markova, Ivana, Raman, Ashok, Robertson, Nicola, Silva, Mark, Thomson, Aileen, Wild, Sue, Yardumian, Pam, Evans, Carole, Gallentrae, Deena, Hobson, Emma, Jamieson, Stuart, Musgrave, Hannah, Rowett, Liz, Toscano, Jean, Bourne, Colin, Clapton, Jackie, Clayton, Carole, Dipple, Heather, Freire-Patino, Dawn, Grant, Janet, Gross, Diana, Hallam, Caroline, Middleton, Julia, Murch, Ann, Thompson, Catherine, Alusi, Sundu, Davies, Rhy, Foy, Kevin, Gerrans, Emily, Pate, Louise, Andrews, Thomasin, Dougherty, Andrew, Golding, Charlotte, Kavalier, Fred, Laing, Hana, Lashwood, Alison, Robertson, Dene, Ruddy, Deborah, Santhouse, Alastair, Whaite, Anna, Bruno, Stefania, Doherty, Karen, Haider, Salman, Hensman, Davina, Lahiri, Nayana, Novak, Marianne, Patel, Aakta, Rosser, Elisabeth, Taylor, Rachel, Warner, Thoma, Wild, Edward, Arran, Natalie, Bek, Judith, Craufurd, David, Hare, Marianne, Howard, Liz, Huson, Susan, Johnson, Liz, Jones, Mary, Murphy, Helen, Oughton, Emma, Partington-Jones, Lucy, Rogers, Dawn, Sollom, Andrea, Snowden, Julie, Stopford, Cheryl, Thompson, Jennifer, Trender-Gerhard, Iri, Verstraelen, Nichola, Westmoreland, Leann, Armstrong, Richard, Dixon, Kathryn, Nemeth, Andrea H, Siuda, Gill, Valentine, Ruth, David, Harrison, Hughes, Max, Parkinson, Andrew, Soltysiak, Beverley, Bandmann, Oliver, Bradbury, Alyson, Gill, Paul, Fairtlough, Helen, Fillingham, Kay, Foustanos, Isabella, Kazoka, Mbombe, O'Donovan, Kirsty, Taylor, Cat, Tidswell, Katherine, Quarrell, Oliver, Lau, Puay Ngoh, Pica, Emmanul, Tan, Louis, Amsterdam Neuroscience - Neurodegeneration, Neurology, Biologie Neurovasculaire et Mitochondriale Intégrée (BNMI), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Moss, Davina J Hensman, Lo, Kitty, Pardiñas, Antonio F, Santos, R Dar, Ret, C Jauff, Valabrègue, R., Witjes-Ane, M. -N., Man, A Hoff, Bachoud-Lévi, Anne-Catherine, Nielsen, Jørgen, Päivärinta, Markku, Sebastián, A Rojo, Wahlström, Jan, Garde, Monica Bascuñana, Laurà, Matilde, Descals, Asunción Martínez, Martinez-Horta, Saül, Mütze, Lisanne, Padieu, Hélène, Røren, Niini, Šašinková, Pavla, Witjes-Ané, Marie-Noelle, Müller, Nicole, Schöggl, Helmut, Müller, Christoph, Minet, Cécile, Ribaï, Pascale, Klempír, Jirí, Majerová, Veronika, Stárková, Irena, Nielsen, Jørgen E., Hyppönen, Hannele, Gohier, Bénédicte, Guérid, Marie-Anne, Duché, Charlotte, Lafoucrière, Danielle, Barthélémy, Rekha, Lemaire, Marie-Hélène, Sablonnière, Bernard, Simonin, Clémence, Thibault-Tanchou, Stéphanie, Blin, Stéphanie, Courtin, Françoise, Duru, Cécile, Fasquel, Véronique, Mantaux, Béatrice, Fluchere, Frédérique, Julié, Celine, Prüß, Harald, Löhle, Matthia, Münchau, Alexander, Bürk, Katrin, Möller, Jens Carsten, Mühlau, Mark, Städtler, Michael, Hölzner, Eva, Leythäuser, Gabriele, Süßmuth, Sigurd, Marchese, Roberta, DI MAIO, Luigi, ’t Hart, Ellen P., Bjørgo, Kathrine, Gørvell, Per F., Retterstøl, Lar, Bjørnevoll, Inga, Wójcik, Magdalena, Guerra, Maria Rosália, Herrera, Carmen Durán, Catena, Judit López, Ferrer, Pilar Quiléz, Sebastián, Ana Rojo, Busquets, Núria, Idiago, Jesús Miguel Ruiz, Fenollar, María, García, Rocío García-Ramo, Bascuñana, Mónica, Ventura, Marta Fatá, Ribas, Guillermo García, de Yébenes, Justo García, Moreno, José Luis López-Sendón, Ruíz, Pedro J García, Martínez-Descals, Asunción, Artiga, María José Saiz, Sánchez, Vicenta, Perea, María Fuensanta Noguera, Torres, María Martirio Antequera, González González, Sonia, Guisasola, Luis Menéndez, Martín, Esther Suaréz San, Ramirez, Inés Legarda, Gorospe, Aranzazú, Lopera, Mónica Rodriguez, Rodríguez, María José Torre, Peña, José Chacón, Carrillo, Fátima, Teresa Cáceres, María, Suarez, María José Lama, Vargas-González, Laura, Vilaplana, Garcia Carmen Peiró, Høsterey-Ugander, Ulrika, Neleborn-Lingefjärd, Liselotte, Wikström, Birgitta, Schüpbach, Michael, Ho, Carrie, Klöppel, Stefan, Harrison, David, Cardiff University, University of Iowa [Iowa City], University of British Columbia (UBC), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), UCL, Institute of Neurology [London], National Oceanography Centre [Southampton] (NOC), University of Southampton, Center for NeuroImaging Research-Human MRI Neuroimaging core facility for clinical research [ICM Paris] (CENIR), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), IFR de Neuroimagerie Fonctionnelle (IFR 49), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), CHU Amiens-Picardie, Laboratoire de Neurosciences Fonctionnelles et Pathologies - UR UPJV 4559 (LNFP), Université de Picardie Jules Verne (UPJV), CHirurgie, IMagerie et REgénération tissulaire de l’extrémité céphalique - Caractérisation morphologique et fonctionnelle - UR UPJV 7516 (CHIMERE), TRACK-HD investigators, Pardinas, Antonio F, Langbehn, Douglas, Lee, S Hong, TRACK-HD Investigators, and REGISTRY Investigators
Subjects: 0301 basic medicine, Oncology, Registrie, Genome-wide association study, Longitudinal Studie, Disease, Bioinformatics, Severity of Illness Index, Principal Component Analysi, Longitudinal Studies, Registries, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, Huntington disease, DNA-Binding Proteins, Settore MED/26 - NEUROLOGIA, Adult, Genome-Wide Association Study, Humans, Huntington Disease, MutS Homolog 3 Protein, Principal Component Analysis, Disease Progression, Neurology (clinical), huntingtin gene, age of onest, Huntington’s disease, Human, medicine.medical_specialty, cag repeat, instability, DNA-Binding Protein, Clinical Neurology, Principal component analysis, Single-nucleotide polymorphism, Biology, 03 medical and health sciences, Huntington's disease, Internal medicine, medicine, SNP, genome-wide association study, medicine.disease, R1, meta-analysis, Minor allele frequency, 030104 developmental biology, Age of onset, Trinucleotide repeat expansion, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: Background Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure. Methods We generated a progression score on the basis of principal component analysis of prospectively acquired longitudinal changes in motor, cognitive, and imaging measures in the 218 indivduals in the TRACK-HD cohort of Huntington's disease gene mutation carriers (data collected 2008–11). We generated a parallel progression score using data from 1773 previously genotyped participants from the European Huntington's Disease Network REGISTRY study of Huntington's disease mutation carriers (data collected 2003–13). We did a genome-wide association analyses in terms of progression for 216 TRACK-HD participants and 1773 REGISTRY participants, then a meta-analysis of these results was undertaken. Findings Longitudinal motor, cognitive, and imaging scores were correlated with each other in TRACK-HD participants, justifying use of a single, cross-domain measure of disease progression in both studies. The TRACK-HD and REGISTRY progression measures were correlated with each other (r=0·674), and with age at onset (TRACK-HD, r=0·315; REGISTRY, r=0·234). The meta-analysis of progression in TRACK-HD and REGISTRY gave a genome-wide significant signal (p=1·12 × 10−10) on chromosome 5 spanning three genes: MSH3, DHFR, and MTRNR2L2. The genes in this locus were associated with progression in TRACK-HD (MSH3 p=2·94 × 10−8 DHFR p=8·37 × 10−7 MTRNR2L2 p=2·15 × 10−9) and to a lesser extent in REGISTRY (MSH3 p=9·36 × 10−4 DHFR p=8·45 × 10−4 MTRNR2L2 p=1·20 × 10−3). The lead single nucleotide polymorphism (SNP) in TRACK-HD (rs557874766) was genome-wide significant in the meta-analysis (p=1·58 × 10−8), and encodes an aminoacid change (Pro67Ala) in MSH3. In TRACK-HD, each copy of the minor allele at this SNP was associated with a 0·4 units per year (95% CI 0·16–0·66) reduction in the rate of change of the Unified Huntington's Disease Rating Scale (UHDRS) Total Motor Score, and a reduction of 0·12 units per year (95% CI 0·06–0·18) in the rate of change of UHDRS Total Functional Capacity score. These associations remained significant after adjusting for age of onset. Interpretation The multidomain progression measure in TRACK-HD was associated with a functional variant that was genome-wide significant in our meta-analysis. The association in only 216 participants implies that the progression measure is a sensitive reflection of disease burden, that the effect size at this locus is large, or both. Knockout of Msh3 reduces somatic expansion in Huntington's disease mouse models, suggesting this mechanism as an area for future therapeutic investigation. Funding The European Commission FP7 NeurOmics project; CHDI Foundation; the Medical Research Council UK; the Brain Research Trust; and the Guarantors of Brain.
Published: 2017
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5. Monitoring risk behaviour in adolescent pupils regarding consumption of psychoactive substances

Author: Aneta Klimberg, Paulina Wojtyła-Buciora, Jerzy T. Marcinkowski, Tomasz Bołdowski, Lucyna Kapka-Skrzypczak, Monika Urbaniak, Andrzej Wojtyła, Jarosław Diatczyk, and Ewa Ulatowska-Szostak
Subjects: Male, medicine.medical_specialty, Adolescent, Drug taking, Substance-Related Disorders, media_common.quotation_subject, education, lcsh:Agriculture, Risk-Taking, medicine, Humans, Psychiatry, Child, Students, Waste Management and Disposal, Ecology, Evolution, Behavior and Systematics, lcsh:Environmental sciences, media_common, Consumption (economics), lcsh:GE1-350, Psychotropic Drugs, Risk behaviour, Public health, Addiction, Public Health, Environmental and Occupational Health, lcsh:S, adolescents/youth, medicine.disease, Popularity, Substance abuse, Adolescent Behavior, drugs/narcotics, Family medicine, Drug consumption, Female, Poland, Psychology, designer drugs (DDs)/legal highs
Abstract: bIntroduction./bTaking psychoactive substances constitutes a significant problem for Public Health, particularly in preventing drug abuse and addiction.bObjectives./bTo estimate the amount and incidence of drug consumption in middle and high school pupils, including the circumstances in which drug taking first started, and to determine pupils' knowledge about the consequences of taking psychoactive substances and designer drugs (DDs).bMaterials and methods/b. A randomised study was conducted throughout Poland on 9,360 pupils attending middle school (junior high school) in 2009 and 7,971 pupils from middle and high school pupils in 2011. The survey consisted of a questionnaire devised by the Chief Sanitary Inspectorate (GIS) and the replies obtained were subject to the relevant statistical analyses.bResults./bDrug taking was found to have increased between 2009-2011, especially among those attending high school; proportionally rising from 4% - 11%. The numbers who had ever taken designer drugs were 3% for middle school pupils and 4% from high school.bConclusions/b. 1) Adolescent drug consumption has increased, particularly in those of older age and in boys. 2) Despite the only brief interval for which designer drugs were legal, they have gained high popularity among the young. 3) Adolescents have insufficient knowledge about the dangers of using DDs. 4) Faced with the growing threat of a dynamic designer drug market, appropriate counter-measures in education and prevention are therefore necessary.
Published: 2017

6. Judicious-Medical Opinions in Cases for Cancellation of Testament Including People who Stayed in Hospices or were Covered by another form of Palliative Care

Author: Aneta Klimberg and Jerzy T. Marcinkowski
Subjects: Clinical trial, medicine.medical_specialty, Palliative care, Nursing, business.industry, Epidemiology, Medicine, business
Published: 2017
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7. Health policy and legal regulations concerning the functioning in society of individuals burdened with Huntington’s disease and other rare diseases

Author: Jerzy T. Marcinkowski, Aneta Klimberg, and Daniel Zielonka
Subjects: medicine.medical_specialty, education.field_of_study, business.industry, Population, Context (language use), Disease, Social issues, Health care, medicine, media_common.cataloged_instance, Health education, European union, business, Psychiatry, education, Health policy, media_common
Abstract: In the European Union, 5,000–8,000 distinct rare diseases affect up to 6% of the total EU population; therefore, care of these patients and the possibilities to optimize this care become increasingly more clearly perceived in health policy. Among these rare and ultra-rare diseases, Huntington’s disease (HD) deserves attention in the context of exercising health care over patients suffering from this disease, access to medications, rehabilitation, etc. Legal regulations are being developed concerning the functioning in society of individuals burdened with rare and ultra-rare diseases – beginning at the EU level. Health education pertaining to this scope of problems is necessary, as well as providing society with information concerning health and social problems encountered by patients with rare diseases. In this context, the mass media play an important role. Systemic changes are desirable, including the regulations, and for this reason, a decisive legislative initiative originating from, e.g. associations of patients suffering from rare diseases, may lead to the changes in regulations to the benefit of patients with such diseases, including HD. Unfortunately, to-date, the legislator has not attached much importance to this problem.
Published: 2013
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8. Clinical manifestations of intermediate allele carriers in Huntington disease

Author: Cubo E., Ramos-Arroyo M. A., Martinez-Horta S., Martinez-Descalls A., Calvo S., Gil-Polo CAnne-Catherine Bachoud-Lévi, Anna Rita Bentivoglio, Ida Biunno, Raphael M Bonelli, Jean-Marc Burgunder, Stephen B Dunnett, Joaquim J Ferreira, Olivia J Handley, Arvid Heiberg, Torsten Illmann, G Bernhard Landwehrmeyer, Jamie Levey, Maria Ramos-Arroyo, Jørgen E Nielsen, Susana Pro Koivisto, Markku Päivärinta, Raymund A C Roos, Ana Rojo Sebastián, Sarah J Tabrizi, Wim Vandenberghe, Christine Verellen-Dumoulin, Tereza Uhrova, Jan Wahlström, Jacek Zaremba, Verena Baake, Katrin Barth, Adrien Come, Leonor Correia Guedes, Ana Maria Finisterra, Monica Bascuñana Garde, Reineke Bos, Sabrina Betz, Jenny Callaghan, Selene Capodarca, Sébastien Charpentier, Wildson Vieira da Silva, Martina Di Renzo, Daniel Ecker, Ruth Fullam, Camille Genoves, Mette Gilling, Carina Hvalstedt, Christine Held, Andrea Horta-Barba, Kerstin Koppers, Claudia Lamanna, Matilde Laurà, Asunción Martínez Descals, Saul Martinez-Horta, Tiago Mestre, Sara Minster, Daniela Monza, Lisanne Mütze, Martin Oehmen, Helene Padieu, Laurent Paterski, Nadia Peppa, Beate Rindal, Dawn Rogers, Niini Røren, Pavla Šašinková, Yuri Seliverstov, Catherine Taylor, Erika Timewell, Jenny Townhill, Patricia Trigo Cubillo, Marleen R van Walsem, Marie-Noelle Witjes-Ané, Grzegorz Witkowski, Abigail Wright, Elizaveta Yudina, Daniel Zielonka, Eugeniusz Zielonka, Paola Zinzi, Cécile Minet, Pascale Ribaï, Dominique Van Paemel, Lena Hjermind, Oda Jacobsen, Suzanne Lindquist, Jørgen Nielsen, Lisbeth Regeur, Jette Stockholm, Ida Unmack Larsen, Christina Vangsted-Hansen, Tua Vinther-Jensen, Pia Eklund, Heli Hiivola, Hannele Hypponen, Kirsti Martikainen, Katri Tuuha, Philippe Allain, Dominique Bonneau Marie Bost, Bénédicte Gohier, Marie-Anne Guérid, Audrey Olivier, Julie Prouzet, Adriana Prundean, Clarisse Scherer-Gagou, Christophe Verny, Blandine Babiloni, Sabrina Debruxelles, Charlotte Duché, Cyril Goizet, Laetitia Jameau, Danielle Lafoucrière, Umberto Spampinato, Anne-Catherine Bachoud-Lévi, Farideh Badei, Lotfi Boudali, Catherine Bourdet, Laurent Cléret, Maryline Couette, Cécile Focseneanu, Laurie Lemoine, Graça Morgado, Mehdi Sebaiti, Claire Thiriez, Laetitia Vervoitte, Katia Youssov, Jean-Philippe Azulay, Christelle Chabot, Marie Delfini, Alexandre Eusebio, Frédérique Fluchere, Christine Garreau, Aicha Ghenam, Hélène Grosjean, Laura Mundler, Marielle Nowak, Roland Raseta, Maïté Bertrand, Fabienne Calvas, Samia Cheriet, Laurent Marquine, Michèle Pierre, Jérémie Pariente, Sandrine Rolland, Alice Seris, Valérie Vaquie, Christoph Michael Kosinski, Eva Milkereit, Daniela Probst, Kathrin Reetz, Christian Sass, Johannes Schiefer, Christiane Schlangen, Cornelius J Werner, Gisa Ellrichmann, Lennard Herrmann, Rainer Hoffmann, Barbara Kaminski, Carsten Saft, Kai Boelmans, Christos Ganos, Ines Goerendt, Walburgis Heinicke, Ute Hidding, Jan Lewerenz, Alexander Münchau, Michael Orth, Jenny Schmalfeld, Lars Stubbe, Simone Zittel, Gabriele Diercks, Dirk Dressler, Flverly Francis, Sabine Gayde-Stephan, Heike Gorzolla, Bianca Kramer, Rebecca Minschke, Christoph Schrader, Pawel Tacik, Natalie Bechtel, Heike Beckmann, Stefan Bohlen, Nicole Göpfert, Eva Hölzner, Herwig Lange, Ralf Reilmann, Stefanie Rohm, Silke Rumpf, Sigrun Schepers, Nathalia Weber, Michael Bachmeier, Matthias Dose, Nina Hofstetter, Ralf Marquard, Alzbeta Mühlbäck, Andrea Buck, Julia Connemann, Carolin Geitner, Andrea Kesse, Bernhard Landwehrmeyer, Franziska Lezius, Solveig Nepper, Anke Niess, Ariane Schneider, Daniela Schwenk, Sigurd Süssmuth, Sonja Trautmann, Patrick Weydt, Stephan Klebe, Thomas Musacchio, Christine Leypold, Kerstin Nöth, Claudia Cormio, Marina de Tommaso, Anna Rita Dellomonaco, Olimpia Difruscolo, Giovanni Franco, Vittorio Sciruicchio, Claudia Serpino, Michela Figorilli, Francesco Marrosu, Antonella Muroni, Valeria Piras, Melisa Vacca, Caterina Bartoli, Elisabetta Bertini, Fernanda Fortunato, Elena Ghelli, Andrea Ginestroni, Claudia Mechi, Marco Paganini, Silvia Piacentini, Silvia Pradella, Anna Maria Romoli, Sandro Sorbi, Giuseppe De Michele, Luigi Di Maio, Carlo Rinaldi, Marco Massarelli, Silvio Peluso, Alessandro Roca, Cinzia Valeria Russo, Pierpaolo Sorrentino, Elena Salvatore, Tecla Tucci, Milena Cannella, Valentina Codella, Francesca De Gregorio, Annunziata De Nicola, Francesca Elifani, Tiziana Martino, Francesca Lovo, Irene Mazzante, Martina Petrollini, Maria Simonelli, Ferdinando Squitieri, Maurizio Vezza, Barbara D'Alessio, Chiara Esposito, Giulia Coarelli, Michela Ferraldeschi, Marina Frontali, Gioia Jacopini, Giovanni Ristori, Silvia Romano, Monique S E van Hout, Jeroen P P van Vugt, A Marit de Weert, Marloes Verhoeven, Simon J A van den Bogaard, Eve M Dumas, Ellen P 't Hart, Milou Jacobs, Anne Kampstra, Anne Schoonderbeek, Nils Olav Aanonsen, Olaf Aaserud, Liv Barnett, Kathrine Bjørgo, Nancy Borgerød, Elisabeth Dramstad, Madeleine Fannemel, Jan Frich, Helen Gundersen, Per Gørvell, Kathrine Haggag, Cecilie Haggag Johannessen, Lars Retterstøl, Oddveig Rosby, Jutta Rummel, Alma Sikiric, Olga Solberg, Marleen van Walsem, Ragnhild Wehus, Artur Dziadkiewicz, Agnieszka Konkel, Ewa Narożańska, Malgorzata Nowak, Piotr Robowski, Emilia Sitek, Jaroslaw Slawek, Witold Soltan, Michal Szinwelski, Michał Arkuszewski, Magdalena Błaszczyk, Magdalena Boczarska-Jedynak, Ewelina Ciach-Wysocka, Agnieszka Gorzkowska, Barbara Jasińska-Myga, Aleksandra Kaczmarczyk, Gabriela Kłodowska-Duda, Grzegorz Opala, Monika Rudzińska, Daniel Stompel, Krzysztof Banaszkiewicz, Dorota Boćwińska, Kamila Bojakowska-Jaremek, Małgorzata Dec, Natalia Grabska, Malgorzata Krawczyk, Ewelina Kubowicz, Michalina Malec-Litwinowicz, Agata Stenwak, Andrzej Szczudlik, Elżbieta Szczygieł, Magdalena Wójcik, Anna Wasielewska, Jacek Anioła Anna Bryl, Anna Ciesielska, Aneta Klimberg, Jerzy Marcinkowski, Husam Samara, Justyna Sempołowicz, Bartłomiej Wiśniewski, Anna Gogol, Piotr Janik, Zygmunt Jamrozik, Anna Kaminska, Hubert Kwiecinski, Jakub Antczak, Katarzyna Jachinska, Wioletta Krysa, Maryla Rakowicz, Przemyslaw Richter, Rafal Rola, Danuta Ryglewicz, Halina Sienkiewicz-Jarosz, Iwona Stępniak, Anna Sułek, Elzbieta Zdzienicka, Karolina Ziora-Jakutowicz, Cristina Januário, Filipa Júlio, Ana Salgueiro, Miguel Coelho, Tiago Mendes, Mário Miguel Rosa, Anabela Valadas, Cristina Semedo, Ana Calado, Joana Morgado, Margarida Dias, Manuel Almeida, Carmen Durán Herrera, Patrocinio Garcia Moreno, Jordi Bas, Núria Busquets, Matilde Calopa, Serge Jaumà Classen, Nadia Rodríguez Dedichá, Miquel Aguilar Barbera, Sonia Arribas Pardo, Dolors Badenes Guia, Noemi Calzado, Laura Casas Hernanz, Juan Pablo Tartari Díaz-Zorita, Judit López Catena, Pilar Quiléz Ferrer, Gemma Tome Carruesco, Misericordia Floriach Robert, Cèlia Mareca Viladrich, Elvira Roca, Jesús Miguel Ruiz Idiago, Antonio Villa Riballo, Antonia Campolongo, Ramon Fernandez de Bobadilla, Jaime Kulisevsky Bojarsky, Javier Pagonabarraga, Jesus Perez Perez, Carolina Villa, Maria Angeles Acera Gil, Koldo Berganzo Corrales, Juan Carlos Gomez Esteban, Amaia González, Beatriz Tijero Merino, Esther Cubo, Natividad Mariscal, Sandra Gutierrez Romero, José Matías Arbelo, Rocío Malo de Molina, Idaira Martín, Juan Manuel Periañez, Beatriz Udaeta, Fernando Alonso-Frech, Belén Frades, Marina Ávila Villanueva, Maria Ascension Zea Sevilla, Fernando Alonso Frech, María Del Mar Fenollar, Rocío García-Ramos García, Clara Villanueva, Mónica Bascuñana, Marta Fatás Ventura, Juan García Caldentey, Guillermo García Ribas, Justo García de Yébenes, José Luis López-Sendón Moreno, Verónica Mañanes Barral, Cici Feliz Feliz, Pedro José García Ruíz, Ana García, Rosa Guerrero López, Antonio Herranz Bárcenas, Asunción Martínez-Descals, Angel Martínez Pueyo, Veronica Puertas Martin, Noelia Rodríguez Martínez, María José Sainz Artiga, Vicenta Sánchez, Javier Del Val Fernandez, Carmen Antúnez Almagro, Salvadora Manzanares, Juan Marín Muñoz, María Martirio Antequera Torres, Fuensanta Noguera Perea, Laura Vivancos Moreau, Sonia González, Luis Menéndez Guisasola, Carlos Salvador, René Ribacoba, Pablo Sánchez Lozano, Marta Para Prieto, Aránzazu Gorospe, Inés Legarda Ramirez, Penelope Navas Arques, Monica Rodriguez Lopera, Barbara Vives Pastor, Itziar Gaston, Maria Antonia Ramos-Arroyo, Maria Dolores Martinez-Jaurrieta, José Manuel García Moreno, Carolina Mendez Lucena, José Chacón Peña, Fátima Damas Hermoso, Eva Pacheco Cortegana, Luis Redondo, Cristina Melgar Fernandez, Maite Paredes Mata, Maria Dolores Romero Lemos, Maria Bosca, Juan Andres Burguera, Francisco Castera Brugada Carmen Peiró Vilaplana, Elena Bellosta Diago, Javier López Del Val, Laura Martinez Martinez, Elena López, Peter Berglund, Radu Constantinescu, Gunnel Fredlund, Ulrika Høsterey-Ugander, Liselotte Neleborn-Lingefjärd, Yanik Stebler, Alain Kaelin, Irene Romero, Michael Schüpbach, Sabine Weber Zaugg, Lorna Downie, Roisin Jack, Kirsty Matheson, Zosia Miedzybrodzka, Daniela Rae, Sheila A Simpson, Fiona Summers, Alexandra Ure, Vivien Vaughn, Shahbana Akhtar, Jenny Crooks, Adrienne Curtis, Jenny de Souza, John Piedad, Hugh Rickards, Jan Wright, Elizabeth Coulthard, Louise Gethin, Beverley Hayward, Kasia Sieradzan, Monica Busse, Cynthia Butcher, Stephen Dunnett, Catherine Clenaghan, Sarah Hunt, Lesley Jones, Una Jones, Hanan Khalil, Michael Owen, Kathleen Price, Anne Rosser, Peter Brockie, Jillian Foster, Nicola Johns, Sue McKenzie, Jean Rothery, Gareth Thomas, Shona Yates, Alyson Andrew, Julie Frost, Rupert Noad, Jeremy Cosgrove, Deena Gallantree, Stephanie Hamer, Emma Hobson, Stuart Jamieson, Alison Kraus, Mandy Longthorpe, Ivana Markova, Hannah Musgrave, Caroline Peacy, Ashok Raman, Liz Rowett, Jean Toscano, Sue Wild, Carole Clayton, Pam Yardumian, Heather Dipple, Dawn Freire- Patino, Caroline Hallam, Julia Middleton, Uruj Anjum, Jan Coebergh, Charlotte Eddy, Nayana Lahiri, Meriel McEntagart, Michael Patton, Maria Peterson, Sarah Rose, Thomasin Andrews, Stefanie Brown, Stefania Bruno, Elvina Chu, Karen Doherty, Charlotte Golding, Salman Haider, Davina Hensman, Monica Lewis, Marianne Novak, Aakta Patel, Joy Read, Nicola Robertson, Elisabeth Rosser, Sarah Tabrizi, Rachel Taylor, Thomas Warner, Edward Wild, Natalie Arran, Judith Bek, David Craufurd, Marianne Hare, Liz Howard, Susan Huson, Liz Johnson, Mary Jones, Ashok Krishnamoorthy, Helen Murphy, Emma Oughton, Lucy Partington-Jones, Andrea Sollom, Julie Snowden, Cheryl Stopford, Jennifer Thompson, Iris Trender-Gerhard, Nichola Verstraelen, Leann Westmoreland, Ginette Cass, Lynn Davidson, Jill Davison, Neil Fullerton, Katrina Holmes, Suresh Komati, Sharon McDonnell, Zeid Mohammed, Karen Morgan, Lois Savage, Baldev Singh, Josh Wood, Andrea H Nemeth, Gill Siuda, Ruth Valentine, Kathryn Dixon, Richard Armstrong, David Harrison, Max Hughes, Sandra Large, John O Donovan, Amy Palmer, Andrew Parkinson, Beverley Soltysiak, Leanne Timings, Josh Williams, Oliver Bandmann, Alyson Bradbury, Helen Fairtlough, Kay Fillingham, Isabella Foustanos, Paul Gill, Mbombe Kazoka, Kirsty O'Donovan, Louise Nevitt, Oliver Quarrell, Cat Taylor, Katherine Tidswell, Lesley Gowers, Kingsley Powell, Pamela Bethwaite, Rachel Edwards, Kathleen Fuller, Michelle Phillips, Univ Angers, Okina, E., Cubo, M. A., Ramos-Arroyo, S., Martinez-Horta, A., Martinez-Descall, S., Calvo, CAnne-Catherine Bachoud-Lévi, Gil-Polo, Rita Bentivoglio, Anna, Biunno, Ida, M Bonelli, Raphael, Burgunder, Jean-Marc, B Dunnett, Stephen, J Ferreira, Joaquim, J Handley, Olivia, Heiberg, Arvid, Illmann, Torsten, Bernhard Landwehrmeyer, G, Levey, Jamie, Ramos-Arroyo, Maria, E Nielsen, Jørgen, Pro Koivisto, Susana, Päivärinta, Markku, C Roos, Raymund A, Rojo Sebastián, Ana, J Tabrizi, Sarah, Vandenberghe, Wim, Verellen-Dumoulin, Christine, Uhrova, Tereza, Wahlström, Jan, Zaremba, Jacek, Baake, Verena, Barth, Katrin, Come, Adrien, Correia Guedes, Leonor, Maria Finisterra, Ana, Bascuñana Garde, Monica, Bos, Reineke, Betz, Sabrina, Callaghan, Jenny, Capodarca, Selene, Charpentier, Sébastien, Vieira da Silva, Wildson, Di Renzo, Martina, Ecker, Daniel, Fullam, Ruth, Genoves, Camille, Gilling, Mette, Hvalstedt, Carina, Held, Christine, Horta-Barba, Andrea, Koppers, Kerstin, Lamanna, Claudia, Laurà, Matilde, Martínez Descals, Asunción, Martinez-Horta, Saul, Mestre, Tiago, Minster, Sara, Monza, Daniela, Mütze, Lisanne, Oehmen, Martin, Padieu, Helene, Paterski, Laurent, Peppa, Nadia, Rindal, Beate, Rogers, Dawn, Røren, Niini, Šašinková, Pavla, Seliverstov, Yuri, Taylor, Catherine, Timewell, Erika, Townhill, Jenny, Trigo Cubillo, Patricia, R van Walsem, Marleen, Witjes-Ané, Marie-Noelle, Witkowski, Grzegorz, Wright, Abigail, Yudina, Elizaveta, Zielonka, Daniel, Zielonka, Eugeniusz, Zinzi, Paola, Minet, Cécile, Ribaï, Pascale, Van Paemel, Dominique, Hjermind, Lena, Jacobsen, Oda, Lindquist, Suzanne, Nielsen, Jørgen, Regeur, Lisbeth, Stockholm, Jette, Unmack Larsen, Ida, Vangsted-Hansen, Christina, Vinther-Jensen, Tua, Eklund, Pia, Hiivola, Heli, Hypponen, Hannele, Martikainen, Kirsti, Tuuha, Katri, Allain, Philippe, Bonneau Marie Bost, Dominique, Gohier, Bénédicte, Guérid, Marie-Anne, Olivier, Audrey, Prouzet, Julie, Prundean, Adriana, Scherer-Gagou, Clarisse, Verny, Christophe, Babiloni, Blandine, Debruxelles, Sabrina, Duché, Charlotte, Goizet, Cyril, Jameau, Laetitia, Lafoucrière, Danielle, Spampinato, Umberto, Bachoud-Lévi, Anne-Catherine, Badei, Farideh, Boudali, Lotfi, Bourdet, Catherine, Cléret, Laurent, Couette, Maryline, Focseneanu, Cécile, Lemoine, Laurie, Morgado, Graça, Sebaiti, Mehdi, Thiriez, Claire, Vervoitte, Laetitia, Youssov, Katia, Azulay, Jean-Philippe, Chabot, Christelle, Delfini, Marie, Eusebio, Alexandre, Fluchere, Frédérique, Garreau, Christine, Ghenam, Aicha, Grosjean, Hélène, Mundler, Laura, Nowak, Marielle, Raseta, Roland, Bertrand, Maïté, Calvas, Fabienne, Cheriet, Samia, Marquine, Laurent, Pierre, Michèle, Pariente, Jérémie, Rolland, Sandrine, Seris, Alice, Vaquie, Valérie, Michael Kosinski, Christoph, Milkereit, Eva, Probst, Daniela, Reetz, Kathrin, Sass, Christian, Schiefer, Johanne, Schlangen, Christiane, J Werner, Corneliu, Ellrichmann, Gisa, Herrmann, Lennard, Hoffmann, Rainer, Kaminski, Barbara, Saft, Carsten, Boelmans, Kai, Ganos, Christo, Goerendt, Ine, Heinicke, Walburgi, Hidding, Ute, Lewerenz, Jan, Münchau, Alexander, Orth, Michael, Schmalfeld, Jenny, Stubbe, Lar, Zittel, Simone, Diercks, Gabriele, Dressler, Dirk, Francis, Flverly, Gayde-Stephan, Sabine, Gorzolla, Heike, Kramer, Bianca, Minschke, Rebecca, Schrader, Christoph, Tacik, Pawel, Bechtel, Natalie, Beckmann, Heike, Bohlen, Stefan, Göpfert, Nicole, Hölzner, Eva, Lange, Herwig, Reilmann, Ralf, Rohm, Stefanie, Rumpf, Silke, Schepers, Sigrun, Weber, Nathalia, Bachmeier, Michael, Dose, Matthia, Hofstetter, Nina, Marquard, Ralf, Mühlbäck, Alzbeta, Buck, Andrea, Connemann, Julia, Geitner, Carolin, Kesse, Andrea, Landwehrmeyer, Bernhard, Lezius, Franziska, Nepper, Solveig, Niess, Anke, Schneider, Ariane, Schwenk, Daniela, Süssmuth, Sigurd, Trautmann, Sonja, Weydt, Patrick, Klebe, Stephan, Musacchio, Thoma, Leypold, Christine, Nöth, Kerstin, Cormio, Claudia, de Tommaso, Marina, Rita Dellomonaco, Anna, Difruscolo, Olimpia, Franco, Giovanni, Sciruicchio, Vittorio, Serpino, Claudia, Figorilli, Michela, Marrosu, Francesco, Muroni, Antonella, Piras, Valeria, Vacca, Melisa, Bartoli, Caterina, Bertini, Elisabetta, Fortunato, Fernanda, Ghelli, Elena, Ginestroni, Andrea, Mechi, Claudia, Paganini, Marco, Piacentini, Silvia, Pradella, Silvia, Maria Romoli, Anna, Sorbi, Sandro, DE MICHELE, Giuseppe, Di Maio, Luigi, Rinaldi, Carlo, Massarelli, Marco, Peluso, Silvio, Roca, Alessandro, Russo, CINZIA VALERIA, Sorrentino, Pierpaolo, Salvatore, Elena, Tucci, Tecla, Cannella, Milena, Codella, Valentina, De Gregorio, Francesca, De Nicola, Annunziata, Elifani, Francesca, Martino, Tiziana, Lovo, Francesca, Mazzante, Irene, Petrollini, Martina, Simonelli, Maria, Squitieri, Ferdinando, Vezza, Maurizio, D'Alessio, Barbara, Esposito, Chiara, Coarelli, Giulia, Ferraldeschi, Michela, Frontali, Marina, Jacopini, Gioia, Ristori, Giovanni, Romano, Silvia, E van Hout, Monique S, P van Vugt, Jeroen P, Marit de Weert, A, Verhoeven, Marloe, A van den Bogaard, Simon J, M Dumas, Eve, P 't Hart, Ellen, Jacobs, Milou, Kampstra, Anne, Schoonderbeek, Anne, Olav Aanonsen, Nil, Aaserud, Olaf, Barnett, Liv, Bjørgo, Kathrine, Borgerød, Nancy, Dramstad, Elisabeth, Fannemel, Madeleine, Frich, Jan, Gundersen, Helen, Gørvell, Per, Haggag, Kathrine, Haggag Johannessen, Cecilie, Retterstøl, Lar, Rosby, Oddveig, Rummel, Jutta, Sikiric, Alma, Solberg, Olga, van Walsem, Marleen, Wehus, Ragnhild, Dziadkiewicz, Artur, Konkel, Agnieszka, Narożańska, Ewa, Nowak, Malgorzata, Robowski, Piotr, Sitek, Emilia, Slawek, Jaroslaw, Soltan, Witold, Szinwelski, Michal, Arkuszewski, Michał, Błaszczyk, Magdalena, Boczarska-Jedynak, Magdalena, Ciach-Wysocka, Ewelina, Gorzkowska, Agnieszka, Jasińska-Myga, Barbara, Kaczmarczyk, Aleksandra, Kłodowska-Duda, Gabriela, Opala, Grzegorz, Rudzińska, Monika, Stompel, Daniel, Banaszkiewicz, Krzysztof, Boćwińska, Dorota, Bojakowska-Jaremek, Kamila, Dec, Małgorzata, Grabska, Natalia, Krawczyk, Malgorzata, Kubowicz, Ewelina, Malec-Litwinowicz, Michalina, Stenwak, Agata, Szczudlik, Andrzej, Szczygieł, Elżbieta, Wójcik, Magdalena, Wasielewska, Anna, Anioła Anna Bryl, Jacek, Ciesielska, Anna, Klimberg, Aneta, Marcinkowski, Jerzy, Samara, Husam, Sempołowicz, Justyna, Wiśniewski, Bartłomiej, Gogol, Anna, Janik, Piotr, Jamrozik, Zygmunt, Kaminska, Anna, Kwiecinski, Hubert, Antczak, Jakub, Jachinska, Katarzyna, Krysa, Wioletta, Rakowicz, Maryla, Richter, Przemyslaw, Rola, Rafal, Ryglewicz, Danuta, Sienkiewicz-Jarosz, Halina, Stępniak, Iwona, Sułek, Anna, Zdzienicka, Elzbieta, Ziora-Jakutowicz, Karolina, Januário, Cristina, Júlio, Filipa, Salgueiro, Ana, Coelho, Miguel, Mendes, Tiago, Miguel Rosa, Mário, Valadas, Anabela, Semedo, Cristina, Calado, Ana, Morgado, Joana, Dias, Margarida, Almeida, Manuel, Durán Herrera, Carmen, Garcia Moreno, Patrocinio, Bas, Jordi, Busquets, Núria, Calopa, Matilde, Jaumà Classen, Serge, Rodríguez Dedichá, Nadia, Aguilar Barbera, Miquel, Arribas Pardo, Sonia, Badenes Guia, Dolor, Calzado, Noemi, Casas Hernanz, Laura, Pablo Tartari Díaz-Zorita, Juan, López Catena, Judit, Quiléz Ferrer, Pilar, Tome Carruesco, Gemma, Floriach Robert, Misericordia, Mareca Viladrich, Cèlia, Roca, Elvira, Miguel Ruiz Idiago, Jesú, Villa Riballo, Antonio, Campolongo, Antonia, Fernandez de Bobadilla, Ramon, Kulisevsky Bojarsky, Jaime, Pagonabarraga, Javier, Perez Perez, Jesu, Villa, Carolina, Angeles Acera Gil, Maria, Berganzo Corrales, Koldo, Carlos Gomez Esteban, Juan, González, Amaia, Tijero Merino, Beatriz, Cubo, Esther, Mariscal, Natividad, Gutierrez Romero, Sandra, Matías Arbelo, José, Malo de Molina, Rocío, Martín, Idaira, Manuel Periañez, Juan, Udaeta, Beatriz, Alonso-Frech, Fernando, Frades, Belén, Ávila Villanueva, Marina, Ascension Zea Sevilla, Maria, Alonso Frech, Fernando, Del Mar Fenollar, María, García-Ramos García, Rocío, Villanueva, Clara, Bascuñana, Mónica, Fatás Ventura, Marta, García Caldentey, Juan, García Ribas, Guillermo, García de Yébenes, Justo, Luis López-Sendón Moreno, José, Mañanes Barral, Verónica, Feliz Feliz, Cici, José García Ruíz, Pedro, García, Ana, Guerrero López, Rosa, Herranz Bárcenas, Antonio, Martínez-Descals, Asunción, Martínez Pueyo, Angel, Puertas Martin, Veronica, Rodríguez Martínez, Noelia, José Sainz Artiga, María, Sánchez, Vicenta, Del Val Fernandez, Javier, Antúnez Almagro, Carmen, Manzanares, Salvadora, Marín Muñoz, Juan, Martirio Antequera Torres, María, Noguera Perea, Fuensanta, Vivancos Moreau, Laura, González, Sonia, Menéndez Guisasola, Lui, Salvador, Carlo, Ribacoba, René, Sánchez Lozano, Pablo, Para Prieto, Marta, Gorospe, Aránzazu, Legarda Ramirez, Iné, Navas Arques, Penelope, Rodriguez Lopera, Monica, Vives Pastor, Barbara, Gaston, Itziar, Antonia Ramos-Arroyo, Maria, Dolores Martinez-Jaurrieta, Maria, Manuel García Moreno, José, Mendez Lucena, Carolina, Chacón Peña, José, Damas Hermoso, Fátima, Pacheco Cortegana, Eva, Redondo, Lui, Melgar Fernandez, Cristina, Paredes Mata, Maite, Dolores Romero Lemos, Maria, Bosca, Maria, Andres Burguera, Juan, Castera Brugada Carmen Peiró Vilaplana, Francisco, Bellosta Diago, Elena, López Del Val, Javier, Martinez Martinez, Laura, López, Elena, Berglund, Peter, Constantinescu, Radu, Fredlund, Gunnel, Høsterey-Ugander, Ulrika, Neleborn-Lingefjärd, Liselotte, Stebler, Yanik, Kaelin, Alain, Romero, Irene, Schüpbach, Michael, Weber Zaugg, Sabine, Downie, Lorna, Jack, Roisin, Matheson, Kirsty, Miedzybrodzka, Zosia, Rae, Daniela, A Simpson, Sheila, Summers, Fiona, Ure, Alexandra, Vaughn, Vivien, Akhtar, Shahbana, Crooks, Jenny, Curtis, Adrienne, de Souza, Jenny, Piedad, John, Rickards, Hugh, Wright, Jan, Coulthard, Elizabeth, Gethin, Louise, Hayward, Beverley, Sieradzan, Kasia, Busse, Monica, Butcher, Cynthia, Dunnett, Stephen, Clenaghan, Catherine, Hunt, Sarah, Jones, Lesley, Jones, Una, Khalil, Hanan, Owen, Michael, Price, Kathleen, Rosser, Anne, Brockie, Peter, Foster, Jillian, Johns, Nicola, Mckenzie, Sue, Rothery, Jean, Thomas, Gareth, Yates, Shona, Andrew, Alyson, Frost, Julie, Noad, Rupert, Cosgrove, Jeremy, Gallantree, Deena, Hamer, Stephanie, Hobson, Emma, Jamieson, Stuart, Kraus, Alison, Longthorpe, Mandy, Markova, Ivana, Musgrave, Hannah, Peacy, Caroline, Raman, Ashok, Rowett, Liz, Toscano, Jean, Wild, Sue, Clayton, Carole, Yardumian, Pam, Dipple, Heather, Freire- Patino, Dawn, Hallam, Caroline, Middleton, Julia, Anjum, Uruj, Coebergh, Jan, Eddy, Charlotte, Lahiri, Nayana, Mcentagart, Meriel, Patton, Michael, Peterson, Maria, Rose, Sarah, Andrews, Thomasin, Brown, Stefanie, Bruno, Stefania, Chu, Elvina, Doherty, Karen, Golding, Charlotte, Haider, Salman, Hensman, Davina, Lewis, Monica, Novak, Marianne, Patel, Aakta, Read, Joy, Robertson, Nicola, Rosser, Elisabeth, Tabrizi, Sarah, Taylor, Rachel, Warner, Thoma, Wild, Edward, Arran, Natalie, Bek, Judith, Craufurd, David, Hare, Marianne, Howard, Liz, Huson, Susan, Johnson, Liz, Jones, Mary, Krishnamoorthy, Ashok, Murphy, Helen, Oughton, Emma, Partington-Jones, Lucy, Sollom, Andrea, Snowden, Julie, Stopford, Cheryl, Thompson, Jennifer, Trender-Gerhard, Iri, Verstraelen, Nichola, Westmoreland, Leann, Cass, Ginette, Davidson, Lynn, Davison, Jill, Fullerton, Neil, Holmes, Katrina, Komati, Suresh, Mcdonnell, Sharon, Mohammed, Zeid, Morgan, Karen, Savage, Loi, Singh, Baldev, Wood, Josh, H Nemeth, Andrea, Siuda, Gill, Valentine, Ruth, Dixon, Kathryn, Armstrong, Richard, Harrison, David, Hughes, Max, Large, Sandra, O Donovan, John, Palmer, Amy, Parkinson, Andrew, Soltysiak, Beverley, Timings, Leanne, Williams, Josh, Bandmann, Oliver, Bradbury, Alyson, Fairtlough, Helen, Fillingham, Kay, Foustanos, Isabella, Gill, Paul, Kazoka, Mbombe, O'Donovan, Kirsty, Nevitt, Louise, Quarrell, Oliver, Taylor, Cat, Tidswell, Katherine, Gowers, Lesley, Powell, Kingsley, Bethwaite, Pamela, Edwards, Rachel, Fuller, Kathleen, Phillips, Michelle, Cubo, E., Ramos-Arroyo, M. A., Martinez-Horta, S., Martinez-Descalls, A., Russo, C. V., Calvo, S., Gil-Polo, C., Biologie Neurovasculaire et Mitochondriale Intégrée (BNMI), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université d'Angers (UA), Ramos-Arroyo, María A., Martínez-Descalls, Asunción, Calvo, Sara, and Gil-Polo, Cecilia
Subjects: 0301 basic medicine, Registrie, Adult, Male, medicine.medical_specialty, Aging, Heterozygote, Genetic counseling, Motor Disorders, Disease, Severity of Illness Index, 03 medical and health sciences, Cognition Disorder, 0302 clinical medicine, Trinucleotide Repeats, Internal medicine, medicine, Humans, Registries, Allele, Motor Disorder, Alleles, Huntingtin Protein, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, business.industry, Medicine (all), Trinucleotide Repeat, Cognition, Genetic Status, Middle Aged, Phenotype, Europe, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Huntington Disease, Case-Control Studies, Cohort, medicine (all), neurology (clinical), controlled clinical trial (topic), Quality of Life, Female, Neurology (clinical), business, Case-Control Studie, Cognition Disorders, 030217 neurology & neurosurgery, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Human
Abstract: International audience; OBJECTIVE: There is controversy about the clinical consequences of intermediate alleles (IAs) in Huntington disease (HD). The main objective of this study was to establish the clinical manifestations of IA carriers for a prospective, international, European HD registry.METHODS: We assessed a cohort of participants at risk with RESULTS: Of 12,190 participants, 657 (5.38%) with CONCLUSIONS: Although aging worsened the UHDRS scores independently of the genetic status, IAs might confer a late-onset abnormal motor and cognitive phenotype. These results might have important implications for genetic counseling.CLINICALTRIALSGOV IDENTIFIER: NCT01590589.
Published: 2016

9. A study of molecular changes relating to energy metabolism and cellular stress in people with Huntington’s disease: looking for biomarkers

Author: Daniel Zielonka, Aneta Klimberg, Joanna Jackiewicz, Irena Bubko, Elżbieta Anuszewska, Sylwia Kuśmirek, Jolanta Krzysztoń-Russjan, and Jerzy T. Marcinkowski
Subjects: Adult, Male, Transcription, Genetic, Physiology, Lactate dehydrogenase A, BCKDK, Biology, Huntington's disease, medicine, Huntingtin Protein, Humans, Cognitive decline, education, Aged, Regulation of gene expression, education.field_of_study, Cell Biology, Middle Aged, medicine.disease, Molecular biology, Solute carrier family, Huntington Disease, Gene Expression Regulation, Female, Monoamine oxidase B, Energy Metabolism, Biomarkers
Abstract: Huntington's disease (HD) is a neurodegenerative disorder characterized by a progressive motor and cognitive decline and the development of psychiatric symptoms. The origin of molecular and biochemical disturbances in HD is a mutation in the HTT gene, which is autosomally dominantly inherited. The altered huntingtin protein is ubiquitously expressed in the CNS, as well as in peripheral tissues. In this study we measured the metabolism changes in gene transcription in blood of HD gene carriers (premanifest and manifest combined) versus 28 healthy controls. The comparison revealed statistically significant Global Pattern Recognition Fold Change (FC) for 6 mRNA transcripts, reflecting an increase of: MAOB (FC = 3.07; p = 0.0005) which encodes an outer mitochondrial membrane-bound enzyme called monoamine oxidase type B; TGM2 (FC = 1.8; p = 0.02) encoding a transglutaminase 2 that mediates cellular stress; SLC2A4 (FC = 1.64; p = 0.02) solute carrier family 2 (facilitated glucose transporter) member 4; branched chain ketoacid dehydrogenase kinase (BCKDK) (FC = 1.34; p = 0.02); decrease of LDHA (FC = -1.16; p = 0.03) lactate dehydrogenase A; and brain-derived neurotrophic factor (BDNF) (FC = -2,11; p = 0.03). These distinguished changes coincided with HD progress. The analyses of gene transcription levels in sub-cohorts confirmed these changes and also revealed 28 statistically significant FCs of gene transcripts involved in ATP production and BCAA metabolism.
Published: 2012
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10. Familial Poisoning by Phosphine

Author: Paweł Swiderski, Czesław Zaba, Jerzy T. Marcinkowski, Aleksander Mularski, Zbigniew Zaba, Artur Teżyk, and Aneta Klimberg
Subjects: chemistry.chemical_compound, chemistry, Phosphine Intoxication, Aluminum phosphide, Organic chemistry, Pesticides, Phosphine, Aluminum Phosphide, Death of a Small Child
Abstract: Lethal intoxications with phosphine belong to rare cases in Poland. Most frequently they involve suicidal intake of metal phospidesand accidental intoxications due to gas inhalation. The case of acute intoxication with phosphine in presented, affecting two persons:a 14-month-old child, who died, and the surviving mother. The intoxication took place on a farm and phosphine was released fromtoxic aluminium phosphide, a component of Quickphos Pellets 56GE preparation, widely used for disinsection of empty facilities for storage of grain and other alimentary products. Autopsy of the 14-month-old child demonstrated cerebral edema and pulmonaryedema and excluded other pathology as the cause of death. Toxicological tests demonstrated only elevated levels of phosphorus. Theentire clinical pattern of intoxication permitted to conclude that the cause of 14-month-old child’s death involved acute intoxication with phosphine, in the mother a subacute intoxication with phosphine was diagnosed. The survival of the mother and death of her14-month-old child reflected their very different body weight and distinct resistance to toxic effect of phosphine.
Published: 2014

11. Huntington' disease--imbalance of amino acid levels in plasma of patients and mutation carriers

Author: Beata, Gruber, Gabriela, Kłaczkow, Małgorzata, Jaworska, Jolanta, Krzysztoń-Russjan, Elżbieta L, Anuszewska, Daniel, Zielonka, Aneta, Klimberg, and Jerzy T, Marcinkowski
Subjects: Adult, Male, Heterozygote, Huntington Disease, Mutation, Humans, Female, Genetic Predisposition to Disease, Amino Acids, Middle Aged
Abstract: Determination of the plasma amino acid (AA) levels in Huntington's disease (HD) can make it possible to find the metabolic markers used in early diagnosis. The aim of the presented study was to determine the AA profile in plasma samples from HD patients and presymptomatic carriers, compared to healthy subjects. The AA profile was analyzed with HPLC. The study concerned 59 participants: 30 subjects with abnormal CAG repeats expansion (36) in the HTT gene, and 29 healthy subjects. Each participant was analyzed with regard to the parameters characterizing the metabolic state and protein metabolism, such as: urea, creatinine, glucose, total protein, TSH (thyroid-stimulating hormone), cortisol, ESR (erythrocyte sedimentation rate), and CRP (C-reactive protein). Simple statistical comparisons showed 5 AA to be significantly lower in the HD group, compared to the control group, i.e.: Asn, His, Leu, Ser, Thr. Creatinine and creatinine clirens were found to be lower in the HD group, compared to controls, while ESR was noticed to be higher. As a result of Canonical Discriminant Analysis, 5 of all AA assayed (Leu, Gln, Asn, Ser and Lys) were selected as variables that allow distinguishing between HD patients and healthy subjects with 75% of correctness. Concerning AA profile and biochemical markers, Canonical Discriminant Analysis detected a panel of variables (Ser, Asn, Gln, Orn, Pro, Arg, Met, Cit, Val, TSH, glucose, urea, creatinine clirens, total protein, cortisol, CRP) distinguishing HD from the control group, with 90% of correctness. Among all the parameters tested, Asn and Ser were revealed in all statistical analyses and could be considered as potential plasma HD biomarkers.
Published: 2013

12. Psychosocial factors and health status of employees at the Poznan University of Medical Sciences

Author: Beata, Ziemska, Aneta, Klimberg, and Jerzy T, Marcinkowski
Subjects: Adult, Male, Health Status, Middle Aged, Risk Factors, Surveys and Questionnaires, Humans, Female, Poland, Workplace, Occupational Health, Schools, Medical, Stress, Psychological, Aged
Abstract: New opportunities in the labour market, competition in services and globalization have contributed to the increase in load factors in the psychosocial work environment. Availability, readiness to help, work with the sick, the suffering patient--night shifts, overtime, workaholic (as a new form of addiction), and bullying--are becoming more pronounced causes of stress, fatigue and burnout in medicine. Thus, difficult working conditions are largely the cause of unhealthy lifestyles in the medical professions and foster the development of various types of addiction and physical illness. The negative effects of psychosocial factors--in the form of immune disorders, increased incidence of mental and somatic diseases, and metabolic and hormonal disorders--more often cause increase absence through sickness and the shortening of working life.The main aim of the presented study was to provide results concerning the health state of employees of the Poznan University of Medical Sciences (PUMS), and also to analyze relations between selected psychosocial risks factors and the state of health of PUMS employees.The results of research conducted in 2009-2010 which covered 2,468 employees of the PUMS and the results of studies using an anonymous own questionnaire survey, evaluating exposure to psychosocial factors, which included the 1,096th members of staff of the PUMS.There was a clear effect of psychosocial risk factors for health workers. The greatest burden of these factors was observed among workers with higher education, mostly doctors. This occupational group also worked in several places of work more often than other employees of the university. These workers often complained of chronic fatigue, recurrent respiratory infections, hypertension, sleep disorders, neurotic disorders and depression. The complaints quite often diagnosed were immune disease, allergies, skin diseases, gastrointestinal diseases, and disorders of carbohydrate and lipid metabolism, which clearly intensified under stress. The clearest negative impact of psychosocial factors on the health of the workers were observed in those a with higher education, employed at several jobs, and complained about poor work organization.1) It is necessary to implement prevention programs for the staff of the PUMS, aimed at the primary and secondary negative impact of psychosocial factors. 2) Psychological counseling is advisable for employees. 3) It is essential that the issue of voice training, and interpersonal communication techniques to teach and control the schedule of classes, in order to reduce the workload, and encourage physical activity and other forms of relaxation. 4) It is advisable to periodically check on the work conditions and organization of work to help eliminate stressors in the work environment.
Published: 2013

13. [Driver and epilepsy]

Author: Jerzy T, Marcinkowski, Tadeusz, Kaczmarek, and Aneta, Klimberg
Subjects: Male, Automobile Driving, Mental Health, Humans, Poland, Forensic Medicine, Middle Aged, Practice Patterns, Physicians', Epilepsy, Post-Traumatic, Expert Testimony, Licensure
Abstract: A family physician managing a 54-year-old patient with a past cranio-cerebral trauma in his medical history, followed by an intracerebral hematoma in the right frontal lobe, with secondary posttraumatic epilepsy, repeatedly prescribed anti-epileptic drugs (recommended by a consulting neurologist) and described in the patient's medical records frequent generalized seizures as reported by the patient and his wife. The doctor himself witnessed the patient driving a car, despite the fact that he received a disability pension resulting from frequent epileptic seizures. According to the doctor, he was "shocked" by the patient driving a car and felt obliged to report the matter to the Transport Division Administration, suggesting that the driving license should be revoked. The patient's driving license had been withdrawn, what caused considerable resentment in the individual, who, in turn, filed a suit against the physician for violating professional medical secrecy by informing the Transport Division Administration about his suffering from epilepsy. The described situations point to the necessity of: 1) striving for the highest possible objectivity of diagnosing epilepsy, and 2) standardization of criteria for certification of epilepsy.
Published: 2007

14. [Medico-legal opinions in cases for annulment of testament. Part II. Final conclusions of opinions. Quality of medical documentation. Evaluation of witnesses' testimonies]

Author: Jerzy T, Marcinkowski and Aneta, Klimberg
Subjects: Adult, Aged, 80 and over, Male, Persons with Mental Disabilities, Forensic Psychiatry, Middle Aged, Medical Records, Disability Evaluation, Wills, Humans, Female, Interpersonal Relations, Mental Competency, Poland, Mental Status Schedule, Expert Testimony, Aged
Abstract: The percentage of cases, in which devisors were unable to devise properly was high, what was mostly associated with the frequent drawing up of testaments by chronically ill individuals immediately before death. Grounds for pronouncing the devisor lacking in testamentary capacity were observed in 46.6% of cases, while 39.7% of devisors were found to lack free expression of will. Medical records were available in all the cases, including psychiatric records in 20.5% of cases and neurological records in 20.5%. In the majority of instances, the low quality of medical records hindered formulating expert opinions. The fact that in the majority of cases, the testimonies of witnesses were highly divergent indicated that they were either unable to assess the mental state of the devisor or else were themselves interested in the settlement of the case. Frequently, attending physicians from non-psychiatric wards were unable to answer questions on the mental state of the devisor, what resulted from their focusing on the somatic cause of hospitalization and the fact that their contact with the patient was very limited in time. Problems with certification on the basis of medical records were mainly associated with lacking psychiatric or neurological consults performed at the time the testament was drawn up; in some instances, the entire medical records from that period were missing. For this reason, individuals desiring to prepare a last will should be advised to undergo voluntary psychiatric assessment in this period. Medico-legal opinions in testament cases are difficult and time-consuming, but pleading one's case before the court is even more tedious and difficult.
Published: 2007

15. [Consent of Jehovah's Witnesses to treatment with blood preparations: legal and ethical aspects]

Author: Czesław, Zaba, Paweł, Swiderski, Zbigniew, Zaba, Aneta, Klimberg, and Zygmunt, Przybylski
Subjects: Treatment Refusal, Informed Consent, Patient Rights, Personal Autonomy, Humans, Blood Transfusion, Poland, Emergency Service, Hospital, Jehovah's Witnesses, Patient Care Management
Abstract: A specific situation in medical practice involves a contact with the philosophy of life represented by Jehovah's Witnesses and their refusal to receive blood transfusions. The objective of the present study is to present legal problems related to the rights of Jehovah's Witnesses to refuse treatment with blood and its derivatives. In addition to the presentation of the regulations, the authors emphasize the aspects of such regulations and their interpretation which may cause doubts to emerge among the clinicians. The legally unacceptable situation is also stressed, wherein the treatment is instituted without the patient's consent or despite his refusal, even if such treatment is administered by the physician positive as to his most noble motivation. Selected ethical issues associated with this problem are also presented, along with the stance of international conventions on human rights and biomedical aspects.
Published: 2007

16. [Medico-legal opinions in cases for annulment of testament. Part I. Characteristics of investigative material. Characteristics of testators]

Author: Jerzy T, Marcinkowski and Aneta, Klimberg
Subjects: Adult, Aged, 80 and over, Male, Persons with Mental Disabilities, Forensic Medicine, Middle Aged, Medical Records, Disability Evaluation, Wills, Humans, Female, Interpersonal Relations, Mental Competency, Poland, Practice Patterns, Physicians', Expert Testimony, Aged
Abstract: A very important issue in preparing medico-legal opinions is the establishment whether the devisor had the ability to bequeath at the date of preparing a testament. The subsequent loss of the ability of bequeathing does not have any impact on execution of the previously prepared testament. Experts who pass opinions in testament cases evaluate: 1) the testament itself and the circumstances of its preparation, excluding, however, the reliability of records, 2) statements obtained while interrogating witnesses (descriptions of daily life, motivation to bequeath), 3) medical records (files, case histories, discharge records). The investigative material consisted of judicial files in 73 testament cases referred to the Chair and Department of Forensic Medicine (CDFM), University of Medical Sciences, Poznań, by courts from all over Poland in the period 1990-2005 for formulation of medico-legal opinions based on these documents. In 63.0% of cases, CDFM in Poznań was the first opinionating institution; in the remaining instances, previous medico-legal opinions had been given elsewhere; in six cases they were antagonistic. The investigative material included a predominant percentage (75.2%) of ordinary testaments (made before a notary and oligraphic) as opposed to 22% of informal testaments (oral only). Although in the majority of cases (67.2%) only one testament was drawn up, there were also instances (2.7%) where the devisor prepared as many as five testaments. The length of devisors survival following the drawing up of the final testament was generally short. In total, testaments not only in the oral form, but also made before a notary, were prepared by chronically ill individuals presenting with marked clinical symptoms, what was perceived by their family and caregivers as a sign of the imminent death. Hence, the testaments were often drawn up in a hospital room or in a notary office where the patient was taken between consecutive hospitalizations.
Published: 2007

17. [Vindication for detriment to health due to mental stress resulting from a sudden death of a close relative in an accident--a case analysis]

Author: Jerzy T, Marcinkowski, Aneta, Klimberg, and Tadeusz, Kaczmarek
Subjects: Adult, Life Change Events, Male, Stress Disorders, Post-Traumatic, Accidents, Traffic, Humans, Female, Poland, Survivors, Forensic Medicine, Insurance, Liability, Expert Testimony
Abstract: The sequelae of traffic accidents affect not only the victims, but may also affect members of their families, who have not been involved in the accident but, nevertheless, in association with the demise of their close relative, they suffer from adaptive (reactive) disturbances which, in their opinion, provide grounds for litigation for their permanent loss of health resulting from the accident. Such opinionating problems are encountered with increasing frequency by insurance companies, when families of the victims killed in traffic accidents demand recuperation for the loss of health, developed due to the traumatizing experiences. The paper presents two cases of such litigation, filed by family members of deceased victims of traffic accidents.
Published: 2007

18. [Medico-legal problems of providing first aid]

Author: Czesław, Zaba, Zbigniew, Zaba, Maciej, Orłowski, Aneta, Klimberg, and Paweł, Swiderski
Subjects: Medical Errors, Quality Assurance, Health Care, Accidents, Traffic, First Aid, Humans, Wounds and Injuries, Poland, Diagnostic Errors, Forensic Medicine, Emergency Service, Hospital
Abstract: The paper presents medico-legal problems associated with providing assistance to victims of traffic accidents. Legal acts have been analyzed in the aspect of help provision. Inconsistencies, and even divergences between individual regulations of the legal acts have been demonstrated. Particular attention has been paid to circumstances of providing emergency assistance, its scope, and situations when the obligation of providing first aid is no longer binding. The problem of provision or refusal to provide help seems--according to the authors--to be valid, since not all relevant legal regulations are generally known.
Published: 2007

19. [Overdiagnosis of cranio-cerebral injuries as a diagnisis error]

Author: Czesław, Zaba, Zbigniew, Zaba, Jerzy T, Marcinkowski, and Aneta, Klimberg
Subjects: Diagnosis, Differential, Professional Competence, Quality Assurance, Health Care, Eligibility Determination, Humans, Poland, Diagnostic Errors, Medical History Taking, Expert Testimony, Brain Concussion
Abstract: The report presents the problem of a diagnostic error consisting in abusing the diagnosis of cerebro-cranial injuries, and especially cerebral concussion. Diagnoses of cerebro-cranial injuries, including brain concussion established by physicians, including specialists, are often inappropriate in view of the medical history, clinical manifestations and laboratory findings. There are several reasons for the misdiagnoses (diagnostic abuse), but most commonly they result from an inappropriately taken medical history, excessive trust in the patient, and willingness to help the patient in receiving higher compensation. Overdiagnosing is also caused by the conviction shared by physicians that a diagnostic error lies in non-detection of a disease or injury rather than in overdiagnosing the patient in order to avoid subsequent charges. This is why proceedings at law against physicians who have overdiagnosed injuries occur only sporadically.
Published: 2007

20. [Diagnosis of HIV infections in legal regulations]

Author: Czesław, Zaba, Zbigniew, Zaba, Aneta, Klimberg, and Paweł, Swiderski
Subjects: Physician-Patient Relations, Informed Consent, Patient Rights, Prisoners, AIDS Serodiagnosis, Humans, Ethics, Medical, HIV Infections, Refusal to Treat, Patient Advocacy, Poland, Forensic Medicine
Abstract: The study aimed at presenting current legal regulations associated with the management of patients suspected of being infected with HIV. Diagnostic management of infections with HIV represents a complex issue that is associated with several problems, not only of a legal, but also practical character. Drawing a blood sample from the patient and its testing for HIV results in infringement of the patient's privacy, and the latter is legally protected. Before conducting the test for HIV infection, the doctor is obliged to obtain the consent of the patient and, when the result is available, he should inform the individual in question and provide recommendations, as recommended by WHO. The patient has the right to be tested anonymously. Blood samples for HIV detection may be collected without the patient's consent in cases of obligatory tests performed as an element of a disease prevention program, in individuals who are charged with or convicted of a crime, or in case of a medical treatment. Unlawful activities result in infringement of the patient's right to self-determination and constitute acts against his/her interests.
Published: 2007

21. [Treatment based on patient's consent: controversies, doubts, ambiguities]

Author: Czesław, Zaba, Paweł, Swiderski, Zbigniew, Zaba, Aneta, Klimberg, and Zygmunt, Przybylski
Subjects: Informed Consent, Patient Rights, Health Policy, Personal Autonomy, Humans, Ethics, Medical, Mental Competency, Parental Consent, Poland, Practice Patterns, Physicians', Dissent and Disputes
Abstract: The authors aimed at directing the reader's attention to regulations by law related to the consent to treatment, the form and interpretation of which may induce controversies among clinicians. Among various problems associated with such a vast topic, the authors focused on the issue of the so called "printed form consent", commonly practiced, but legally groundless in view of the legal regulations in force. The report also presented selected aspects of obtaining consent to treatment of a juvenile patient, specifying and discussing unclear and doubtful situations. Another topic stressed in the paper involved treatment executed in the absence of consent or when preferences of the patient are unknown, particularly in emergencies. Finally, selected aspects of compulsory procedures were presented, in particular the principles of compulsory examination of a patient in penal proceedings and the use of constraint in the emergency detoxification centers.
Published: 2007

22. [Diagnostic errors in head injuries]

Author: Czeslaw, Zaba, Zbigniew, Zaba, Paweł, Swiderski, Aneta, Klimberg, Jerzy T, Marcinkowski, and Zygmunt, Przybylskil
Subjects: Diagnosis, Differential, Disability Evaluation, Quality Assurance, Health Care, Craniocerebral Trauma, Eligibility Determination, Humans, Poland, Diagnostic Errors, Forensic Medicine
Abstract: Cranio-cerebral injuries pose a significant problem not only for clinicians, but also for forensic medicine specialists. Due to the specific character of such injuries, they are a relatively frequent cause of diagnostic errors. The most common type of diagnostic errors involves failure to diagnose cranio-cerebral injuries, especially in emergency cases. The authors present cases, in which imaging diagnostic studies, implemented therapeutic procedures and numerous consultations have not prevented misdiagnosing the patients and their resultant death.
Published: 2007

23. [The role of horse-therapy in improvement of children with Down syndrome]

Author: Aneta, Klimberg
Subjects: Parents, Child Development, Movement, Human-Animal Bond, Animals, Humans, Horses, Poland, Down Syndrome, Child, Physical Therapy Modalities, Exercise Therapy
Abstract: Many years of experience in horse-therapy show that this is the efficient method of rehabilitation of disabled children, also with Down syndrome. This method improves not only proficiency, but also mental sphere and social functions of children. 3 cases of children with Down syndrome in age 7-8 years rehabilitated by horse-therapy, and other methods (physical exercises, swimming, talking exercises) through 1-3 year have been described. In every case adding horse-therapy to other methods of rehabilitation gave measurable advantages both in physical sphere and also in mental and social spheres. In parents' opinion disabled children are highly motivated to take part in the classes of horse-therapy. It should be emphasized that in every described case we have seen high involvement of parents in rehabilitation process.
Published: 2007

24. [Selected comments about the need for consistency standards in diagnosing occupational accidents and to improve professional skill and competence]

Author: Jerzy T, Marcinkowski and Aneta, Klimberg
Subjects: Adult, Male, Occupational Medicine, Workload, Forensic Medicine, Middle Aged, Risk Assessment, Occupational Diseases, Disability Evaluation, Accidents, Occupational, Humans, Female, Clinical Competence, Poland
Abstract: An accident at work is a sudden occupation-related event induced by an external agent resulting in trauma or death. The analysis covered 3215 records of proceedings in cases of accidents at work sent for certification to the Department of Forensic Medicine, Poznan University of Medical Sciences, from all over the country in the years 1989-2003. Of this number 19 most interesting cases with two or more opinions and varied final conclusions were selected. Medical certifications are issued by experts of various institutions, mostly of forensic medicine departments of medical universities, but also by independent experts. The fact that final conclusions drawn by different experts differ although based on the same records of proceedings indicates the need for setting uniform criteria for medical certification. The cases described in this paper may also serve as a strong argument for organizing more frequent conferences addressing this issue and for considering a possible introduction of specialization in medical certification.
Published: 2004

25. J39 Recruitment Rate For Studies On Huntington's Disease In Poland

Author: Daniel Zielonka, Jerzy T. Marcinkowski, and Aneta Klimberg
Subjects: Gerontology, Longitudinal study, business.industry, Disease, medicine.disease, Environmental studies, Clinical trial, Psychiatry and Mental health, Huntington's disease, Social medicine, Cohort, medicine, Surgery, Observational study, Neurology (clinical), business
Abstract: Huntington’s disease (HD) is a genetic, progressive neurodegenerative disorder. Given that this disease is rare, it is very difficult to collect a large cohort of HD subjects for a significant interventional and environmental studies. The international HD cohort research initiatives were reviewed in the U.S. National Library of Medicine National Institutes of Health (PubMed), Clinical Trials – a service of the U.S. National Institutes of Health (www.clinicaltrials.gov) and an archive of the HD research Coordination Centre for Poland located at the Chair of Social Medicine of Poznan University of Medical Sciences, Poland. Over one thousand participants were investigated in two observational and three clinical studies. REGISTRY is a prospective, observational, longitudinal study on the rate of HD progression collecting large number of data on patients during annual visits. HD studies participant’s number as well as number of cross-sectional and clinical studies increased dramatically in last years. Based on REGISTRY database patients may be efficiently recruited to other studies. Poland has become an attractive country for conducting a large study such REGISTRY, that is a novel approach to overcome difficulties in patient collection for Huntington’s disease interventional and environmental studies, effectively increase number of participants enrolled to studies.
Published: 2014
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26. Nutrition-related health behaviours and prevalence of overweight and obesity among Polish children and adolescentes

Author: Jacek Piątek, Barbara Stawińska-Witoszyńska, Marian Sygit, Iwona Ignyś, Jerzy Marcinkowski, Aneta Klimberg, Krzysztof Wojtyła, Małgorzata Goździewska, Andrzej Wojtyła, Cezary Wojtyła, and Paulina Wojtyła-Buciora
Subjects: Adult, Male, Parents, Adolescent, Health Behavior, Nutritional Status, Guidelines as Topic, Overweight, Diet, Nutrition Disorders, Young Adult, Surveys and Questionnaires, Prevalence, Humans, Female, Obesity, Poland, Child, Students, Health Education
Abstract: An adequate mode of nutrition is among the most important environmental factors affecting the development of Man and maintenance of a good health status. An improper selection of nutrients and irregular consumption of meals may lead to overweight and obesity.The characteristics of health behaviours of the examined population of schoolchildren, with consideration of nutrition and body weight disorders. A comparison of the opinions of schoolchildren and their parents concerning health behaviours. Development of guidelines for educational programmes carried out in the place of residence of the population of schoolchildren and their parents.The survey covered a randomised group of schoolchildren attending elementary and secondary schools in the Kalisz Province and province of the city of Kalisz. The study was conducted in May and June 2009, in a randomly selected representative group of 1,100 boys and girls from classes V and VI of elementary schools, and 1,100 secondary school adolescents aged 16-19 and their parents. The studies of schoolchildren attending elementary and secondary schools were compared with the all-Polish studies of junior high school adolescents in the school year 2006-2007.The respondents most often consumed 3-4 meals; however, as many as 26% of junior high school adolescents and 27% of secondary school adolescents admitted that they consume only one meal daily. The schoolchildren show inadequate nutritional habits concerning an insufficient consumption of fruits, vegetables and fish, in favour of high calorific meals and sweet snacks and drinks. Parents improperly assess the body weight of their children and perceive them as slimmer, which is not confirmed by the BMI value for age and gender.Systematic monitoring and analysis of changes in the health behaviours of adolescents should be a basis for planning health education and promotion programmes. Educational programmes concerning various aspects of health should be implemented in an organized and complementary way, directed not only at schools, but also at entire families and local communities. Knowledge, beliefs, skills and attitudes towards health acquired during the period of adolescence decide about life style in adulthood.

27. Transcriptional profile of an altered purine metabolism in skeletal muscle of HdhQ150 mouse model

Author: Aneta Klimberg, Daniel Zielonka, Michał Mielcarek, and Mark Isalan

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Author: Marcinkowski, J. T., Aneta Klimberg, and Kaczmarek, T.

29. Expression levels of MEF transcription factors in skeletal muscles of Huntington's disease mouse model

Author: Daniel Zielonka, Iwona Mazur-Michałek, Michał Mielcarek, Małgorzata Wieleba, Jerzy Marcinkowski, and Aneta Klimberg

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Author: Michał Lewandowski, Jakub Roztropiński, Jacek Piatek, Tomasz Bołdowski, Aneta Klimberg, Aleksandra Masłowska, Anna Pawłowska, and Paulina Wojtyła-Buciora