Miopatia w przebiegu niedoboru palmitylotransferazy karnityny II

Wrodzony niedobór palmitylotransferazy karnityny (CPT) II jest chorobą dziedziczoną autosomalnie recesywnie, charakteryzującą się zmiennością fenotypową zależną od wieku wystąpienia pierwszych objawów. Znane są trzy postacie choroby związane z niedoborem CPT II: noworodkowa, dziecięca i dorosłych. Postać noworodkowa jest najcięższa i nieuchronnie prowadzi do śmierci. Fenotyp kliniczny postaci dorosłych jest łagodny, z objawami miopatii występującymi jedynie po prowokacji czynnikami zewnętrznymi, np. nadmiernym wysiłkiem. W prezentowanym przypadku chorego z niedoborem CPT II objawy kliniczne miopatii były wyjątkowo dyskretne. Pacjent, 32 lata, został przyjęty do szpitala w celu diagnostyki bólu mięśni występującego podczas wysiłku. Uwagę zwracała atletyczna budowa ciała, pomimo że pacjent negował uprawianie sportu. W badaniu neurologicznym stwierdzono nadmierną męczliwość, ujawniającą się zwłaszcza przy próbie skakania na jednej nodze, bez innych nieprawidłowości. Badanie elektromiograficzne i badania biochemiczne z surowicy nie wykazały zmian typowych dla miopatii. Również rutynowe badanie histopatologiczne nie wykazało nieprawidłowości w strukturze włókien mięśniowych. Rozpoznanie ustalono na podstawie analizy ultrastrukturalnej i biochemicznej wykazującej zmiany typowe dla niedoboru CPT II

TRY plant trait database – enhanced coverage and open access

Plant traits - the morphological, anatomical, physiological, biochemical and phenological characteristics of plants - determine how plants respond to environmental factors, affect other trophic levels, and influence ecosystem properties and their benefits and detriments to people. Plant trait data thus represent the basis for a vast area of research spanning from evolutionary biology, community and functional ecology, to biodiversity conservation, ecosystem and landscape management, restoration, biogeography and earth system modelling. Since its foundation in 2007, the TRY database of plant traits has grown continuously. It now provides unprecedented data coverage under an open access data policy and is the main plant trait database used by the research community worldwide. Increasingly, the TRY database also supports new frontiers of trait‐based plant research, including the identification of data gaps and the subsequent mobilization or measurement of new data. To support this development, in this article we evaluate the extent of the trait data compiled in TRY and analyse emerging patterns of data coverage and representativeness. Best species coverage is achieved for categorical traits - almost complete coverage for ‘plant growth form’. However, most traits relevant for ecology and vegetation modelling are characterized by continuous intraspecific variation and trait–environmental relationships. These traits have to be measured on individual plants in their respective environment. Despite unprecedented data coverage, we observe a humbling lack of completeness and representativeness of these continuous traits in many aspects. We, therefore, conclude that reducing data gaps and biases in the TRY database remains a key challenge and requires a coordinated approach to data mobilization and trait measurements. This can only be achieved in collaboration with other initiatives

TRY plant trait database – enhanced coverage and open access

Plant traits—the morphological, anatomical, physiological, biochemical and phenological characteristics of plants—determine how plants respond to environmental factors, affect other trophic levels, and influence ecosystem properties and their benefits and detriments to people. Plant trait data thus represent the basis for a vast area of research spanning from evolutionary biology, community and functional ecology, to biodiversity conservation, ecosystem and landscape management, restoration, biogeography and earth system modelling. Since its foundation in 2007, the TRY database of plant traits has grown continuously. It now provides unprecedented data coverage under an open access data policy and is the main plant trait database used by the research community worldwide. Increasingly, the TRY database also supports new frontiers of trait-based plant research, including the identification of data gaps and the subsequent mobilization or measurement of new data. To support this development, in this article we evaluate the extent of the trait data compiled in TRY and analyse emerging patterns of data coverage and representativeness. Best species coverage is achieved for categorical traits—almost complete coverage for ‘plant growth form’. However, most traits relevant for ecology and vegetation modelling are characterized by continuous intraspecific variation and trait–environmental relationships. These traits have to be measured on individual plants in their respective environment. Despite unprecedented data coverage, we observe a humbling lack of completeness and representativeness of these continuous traits in many aspects. We, therefore, conclude that reducing data gaps and biases in the TRY database remains a key challenge and requires a coordinated approach to data mobilization and trait measurements. This can only be achieved in collaboration with other initiatives.Rest of authors: Decky Junaedi, Robert R. Junker, Eric Justes, Richard Kabzems, Jeffrey Kane, Zdenek Kaplan, Teja Kattenborn, Lyudmila Kavelenova, Elizabeth Kearsley, Anne Kempel, Tanaka Kenzo, Andrew Kerkhoff, Mohammed I. Khalil, Nicole L. Kinlock, Wilm Daniel Kissling, Kaoru Kitajima, Thomas Kitzberger, Rasmus Kjøller, Tamir Klein, Michael Kleyer, Jitka Klimešová, Joice Klipel, Brian Kloeppel, Stefan Klotz, Johannes M. H. Knops, Takashi Kohyama, Fumito Koike, Johannes Kollmann, Benjamin Komac, Kimberly Komatsu, Christian König, Nathan J. B. Kraft, Koen Kramer, Holger Kreft, Ingolf Kühn, Dushan Kumarathunge, Jonas Kuppler, Hiroko Kurokawa, Yoko Kurosawa, Shem Kuyah, Jean-Paul Laclau, Benoit Lafleur, Erik Lallai, Eric Lamb, Andrea Lamprecht, Daniel J. Larkin, Daniel Laughlin, Yoann Le Bagousse-Pinguet, Guerric le Maire, Peter C. le Roux, Elizabeth le Roux, Tali Lee, Frederic Lens, Simon L. Lewis, Barbara Lhotsky, Yuanzhi Li, Xine Li, Jeremy W. Lichstein, Mario Liebergesell, Jun Ying Lim, Yan-Shih Lin, Juan Carlos Linares, Chunjiang Liu, Daijun Liu, Udayangani Liu, Stuart Livingstone, Joan Llusià, Madelon Lohbeck, Álvaro López-García, Gabriela Lopez-Gonzalez, Zdeňka Lososová, Frédérique Louault, Balázs A. Lukács, Petr Lukeš, Yunjian Luo, Michele Lussu, Siyan Ma, Camilla Maciel Rabelo Pereira, Michelle Mack, Vincent Maire, Annikki Mäkelä, Harri Mäkinen, Ana Claudia Mendes Malhado, Azim Mallik, Peter Manning, Stefano Manzoni, Zuleica Marchetti, Luca Marchino, Vinicius Marcilio-Silva, Eric Marcon, Michela Marignani, Lars Markesteijn, Adam Martin, Cristina Martínez-Garza, Jordi Martínez-Vilalta, Tereza Mašková, Kelly Mason, Norman Mason, Tara Joy Massad, Jacynthe Masse, Itay Mayrose, James McCarthy, M. Luke McCormack, Katherine McCulloh, Ian R. McFadden, Brian J. McGill, Mara Y. McPartland, Juliana S. Medeiros, Belinda Medlyn, Pierre Meerts, Zia Mehrabi, Patrick Meir, Felipe P. L. Melo, Maurizio Mencuccini, Céline Meredieu, Julie Messier, Ilona Mészáros, Juha Metsaranta, Sean T. Michaletz, Chrysanthi Michelaki, Svetlana Migalina, Ruben Milla, Jesse E. D. Miller, Vanessa Minden, Ray Ming, Karel Mokany, Angela T. Moles, Attila Molnár V, Jane Molofsky, Martin Molz, Rebecca A. Montgomery, Arnaud Monty, Lenka Moravcová, Alvaro Moreno-Martínez, Marco Moretti, Akira S. Mori, Shigeta Mori, Dave Morris, Jane Morrison, Ladislav Mucina, Sandra Mueller, Christopher D. Muir, Sandra Cristina Müller, François Munoz, Isla H. Myers-Smith, Randall W. Myster, Masahiro Nagano, Shawna Naidu, Ayyappan Narayanan, Balachandran Natesan, Luka Negoita, Andrew S. Nelson, Eike Lena Neuschulz, Jian Ni, Georg Niedrist, Jhon Nieto, Ülo Niinemets, Rachael Nolan, Henning Nottebrock, Yann Nouvellon, Alexander Novakovskiy, The Nutrient Network, Kristin Odden Nystuen, Anthony O'Grady, Kevin O'Hara, Andrew O'Reilly-Nugent, Simon Oakley, Walter Oberhuber, Toshiyuki Ohtsuka, Ricardo Oliveira, Kinga Öllerer, Mark E. Olson, Vladimir Onipchenko, Yusuke Onoda, Renske E. Onstein, Jenny C. Ordonez, Noriyuki Osada, Ivika Ostonen, Gianluigi Ottaviani, Sarah Otto, Gerhard E. Overbeck, Wim A. Ozinga, Anna T. Pahl, C. E. Timothy Paine, Robin J. Pakeman, Aristotelis C. Papageorgiou, Evgeniya Parfionova, Meelis Pärtel, Marco Patacca, Susana Paula, Juraj Paule, Harald Pauli, Juli G. Pausas, Begoña Peco, Josep Penuelas, Antonio Perea, Pablo Luis Peri, Ana Carolina Petisco-Souza, Alessandro Petraglia, Any Mary Petritan, Oliver L. Phillips, Simon Pierce, Valério D. Pillar, Jan Pisek, Alexandr Pomogaybin, Hendrik Poorter, Angelika Portsmuth, Peter Poschlod, Catherine Potvin, Devon Pounds, A. Shafer Powell, Sally A. Power, Andreas Prinzing, Giacomo Puglielli, Petr Pyšek, Valerie Raevel, Anja Rammig, Johannes Ransijn, Courtenay A. Ray, Peter B. Reich, Markus Reichstein, Douglas E. B. Reid, Maxime Réjou-Méchain, Victor Resco de Dios, Sabina Ribeiro, Sarah Richardson, Kersti Riibak, Matthias C. Rillig, Fiamma Riviera, Elisabeth M. R. Robert, Scott Roberts, Bjorn Robroek, Adam Roddy, Arthur Vinicius Rodrigues, Alistair Rogers, Emily Rollinson, Victor Rolo, Christine Römermann, Dina Ronzhina, Christiane Roscher, Julieta A. Rosell, Milena Fermina Rosenfield, Christian Rossi, David B. Roy, Samuel Royer-Tardif, Nadja Rüger, Ricardo Ruiz-Peinado, Sabine B. Rumpf, Graciela M. Rusch, Masahiro Ryo, Lawren Sack, Angela Saldaña, Beatriz Salgado-Negret, Roberto Salguero-Gomez, Ignacio Santa-Regina, Ana Carolina Santacruz-García, Joaquim Santos, Jordi Sardans, Brandon Schamp, Michael Scherer-Lorenzen, Matthias Schleuning, Bernhard Schmid, Marco Schmidt, Sylvain Schmitt, Julio V. Schneider, Simon D. Schowanek, Julian Schrader, Franziska Schrodt, Bernhard Schuldt, Frank Schurr, Galia Selaya Garvizu, Marina Semchenko, Colleen Seymour, Julia C. Sfair, Joanne M. Sharpe, Christine S. Sheppard, Serge Sheremetiev, Satomi Shiodera, Bill Shipley, Tanvir Ahmed Shovon, Alrun Siebenkäs, Carlos Sierra, Vasco Silva, Mateus Silva, Tommaso Sitzia, Henrik Sjöman, Martijn Slot, Nicholas G. Smith, Darwin Sodhi, Pamela Soltis, Douglas Soltis, Ben Somers, Grégory Sonnier, Mia Vedel Sørensen, Enio Egon Sosinski Jr, Nadejda A. Soudzilovskaia, Alexandre F. Souza, Marko Spasojevic, Marta Gaia Sperandii, Amanda B. Stan, James Stegen, Klaus Steinbauer, Jörg G. Stephan, Frank Sterck, Dejan B. Stojanovic, Tanya Strydom, Maria Laura Suarez, Jens-Christian Svenning, Ivana Svitková, Marek Svitok, Miroslav Svoboda, Emily Swaine, Nathan Swenson, Marcelo Tabarelli, Kentaro Takagi, Ulrike Tappeiner, Rubén Tarifa, Simon Tauugourdeau, Cagatay Tavsanoglu, Mariska te Beest, Leho Tedersoo, Nelson Thiffault, Dominik Thom, Evert Thomas, Ken Thompson, Peter E. Thornton, Wilfried Thuiller, Lubomír Tichý, David Tissue, Mark G. Tjoelker, David Yue Phin Tng, Joseph Tobias, Péter Török, Tonantzin Tarin, José M. Torres-Ruiz, Béla Tóthmérész, Martina Treurnicht, Valeria Trivellone, Franck Trolliet, Volodymyr Trotsiuk, James L. Tsakalos, Ioannis Tsiripidis, Niklas Tysklind, Toru Umehara, Vladimir Usoltsev, Matthew Vadeboncoeur, Jamil Vaezi, Fernando Valladares, Jana Vamosi, Peter M. van Bodegom, Michiel van Breugel, Elisa Van Cleemput, Martine van de Weg, Stephni van der Merwe, Fons van der Plas, Masha T. van der Sande, Mark van Kleunen, Koenraad Van Meerbeek, Mark Vanderwel, Kim André Vanselow, Angelica Vårhammar, Laura Varone, Maribel Yesenia Vasquez Valderrama, Kiril Vassilev, Mark Vellend, Erik J. Veneklaas, Hans Verbeeck, Kris Verheyen, Alexander Vibrans, Ima Vieira, Jaime Villacís, Cyrille Violle, Pandi Vivek, Katrin Wagner, Matthew Waldram, Anthony Waldron, Anthony P. Walker, Martyn Waller, Gabriel Walther, Han Wang, Feng Wang, Weiqi Wang, Harry Watkins, James Watkins, Ulrich Weber, James T. Weedon, Liping Wei, Patrick Weigelt, Evan Weiher, Aidan W. Wells, Camilla Wellstein, Elizabeth Wenk, Mark Westoby, Alana Westwood, Philip John White, Mark Whitten, Mathew Williams, Daniel E. Winkler, Klaus Winter, Chevonne Womack, Ian J. Wright, S. Joseph Wright, Justin Wright, Bruno X. Pinho, Fabiano Ximenes, Toshihiro Yamada, Keiko Yamaji, Ruth Yanai, Nikolay Yankov, Benjamin Yguel, Kátia Janaina Zanini, Amy E. Zanne, David Zelený, Yun-Peng Zhao, Jingming Zheng, Ji Zheng, Kasia Ziemińska, Chad R. Zirbel, Georg Zizka, Irié Casimir Zo-Bi, Gerhard Zotz, Christian Wirth.Max Planck Institute for Biogeochemistry; Max Planck Society; German Centre for Integrative Biodiversity Research (iDiv) Halle-Jena-Leipzig; International Programme of Biodiversity Science (DIVERSITAS); International Geosphere-Biosphere Programme (IGBP); Future Earth; French Foundation for Biodiversity Research (FRB); GIS ‘Climat, Environnement et Société'.http://wileyonlinelibrary.com/journal/gcbhj2021Plant Production and Soil Scienc

Parents and teachers towards subcultures

Celem niniejszej pracy pt. „rodzice i nauczyciele wobec subkultury młodzieżowych” było sprawdzenie wiedzy i stosunku emocjonalnego rodziców oraz nauczycieli wobec subkultur młodzieżowych. Opracowanie zawiera opis wybranych subkultur, wytłumaczone zostały także główne pojęcia związane z tym tematem, również system wartości jak i slang kontrkultur. Problem główny pracy brzmi: Jaka jest wiedza i stosunek emocjonalny rodziców oraz nauczycieli wobec subkultur? Natomiast problemy szczegółowe sformułowałam następująco: Jaki jest stosunek emocjonalny nauczycieli wobec subkultur młodzieżowych?; Jaka jest wiedza nauczycieli na temat subkultur młodzieżowych?; Jaki jest stosunek emocjonalny rodziców wobec przynależności uczniów do subkultur młodzieżowych?; Jaka jest wiedza rodziców na temat subkultur młodzieżowych? Aby odpowiedzieć na te pytania przeprowadziłam badania na wybranej grupie rodziców i nauczycieli posługując się narzędziem ankiety. Wyniki nie napawają optymizmem, gdyż w większości wiedza zarówno rodziców jak i nauczycieli jest znikoma, a stosunek emocjonalny negatywny.The purpose of this study was to test the knowledge and the emotional relationship of parents and teachers to youth subcultures. The study contains a description of the various subcultures, were also explained the main concepts related to the topic, the system of values and counterculture slang. The root problem of work is: What is knowledge and the emotional attitude of parents and teachers to subcultures? Whereas the problems detailed reformulate as follows: What is the emotional attitude of teachers towards youth subcultures?; What is the teachers' knowledge about youth subcultures?; What is the emotional attitude of parents towards students belonging to youth subcultures?; What is the awareness of parents about youth subcultures? To answer these questions I conducted research on a selected group of parents and teachers using the tool questionnaires. The results not encouraging, as most know both parents and teachers is extremely low and negative emotional relationship

Are local plants the best for ecosystem restoration? It depends on how you analyze the data

One of the key questions in ecosystem restoration is the choice of the seed material for restoring plant communities. The most common strategy is to use local seed sources, based on the argument that many plants are locally adapted and thus local seed sources should provide the best restoration success. However, the evidence for local adaptation is inconsistent, and some of these inconsistencies may be due to dif- ferent experimental approaches that have been used to test for local adaptation. We illustrate how conclusions about local adaptation depend on the experimental design and in particular on the method of data analysis. We used data from a multispecies reciprocal transplant experiment and analyzed them in three different ways: (1) com- paring local vs. foreign plants within species and sites, corresponding to tests of the “local is best” paradigm in ecological restoration, (2) comparing sympatric vs. allopatric populations across sites but within species, and (3) comparing sympatric and allopatric populations across multiple species. These approaches reflect different experimental designs: While a local vs. foreign comparison can be done even in small experiments with a single species and site, the other two approaches require a reciprocal transplant experiment with one or multiple species, respectively. The three different analyses led to contrasting results. While the local/foreign approach indicated lack of local adapta - tion or even maladaptation, the more general sympatric/allopatric approach rather suggested local adaptation, and the most general cross- species sympatric/allopatric test provided significant evidence for local adaptation. The analyses demonstrate how the design of experiments and methods of data analysis impact conclusions on the presence or absence of local adaptation. While small- scale, single- species experiments may be useful for identifying the appropriate seed material for a specific restoration project, general patterns can only be detected in reciprocal transplant experiments with multiple species and sites.publishedVersio

On the Unification of Common Actigraphic Data Scoring Algorithms

Actigraphy is a well-known, inexpensive method to investigate human movement patterns. Sleep and circadian rhythm studies are among the most popular applications of actigraphy. In this study, we investigate seven common sleep-wake scoring algorithms designed for actigraphic data, namely Cole-Kripke algorithm, two versions of Sadeh algorithm, Sazonov algorithm, Webster algorithm, UCSD algorithm and Scripps Clinic algorithm. We propose a unified mathematical framework describing five of them. One of the observed novelties is that five of these algorithms are in fact equivalent to low-pass FIR filters with very similar characteristics. We also provide explanations about the role of some factors defining these algorithms, as none were given by their Authors who followed empirical procedures. Proposed framework provides a robust mathematical description of discussed algorithms, which for the first time allows one to fully understand their operation and basics

Data_Nagel_etal2018PlaBio

File contains data both on molecular markers (AFLP) and phenotypic data. All information is in README file

Two common, often coexisting grassland plant species differ in their evolutionary potential in response to experimental drought

Abstract For terrestrial plant communities, the increase in frequency and intensity of drought events is considered as one of the most severe consequences of climate change. While single‐species studies demonstrate that drought can lead to relatively rapid adaptive genetic changes, the evolutionary potential and constraints to selection need to be assessed in comparative approaches to draw more general conclusions. In a greenhouse experiment, we compare the phenotypic response and evolutionary potential of two co‐occurring grassland plant species, Bromus erectus and Trifolium pratense, in two environments differing in water availability. We quantified variation in functional traits and reproductive fitness in response to drought and compared multivariate genetic variance–covariance matrices and predicted evolutionary responses between species. Species showed different drought adaptation strategies, reflected in both their species‐specific phenotypic plasticity and predicted responses to selection indicating contrasting evolutionary potential under drought. In T. pratense we found evidence for stronger genetic constraints under drought compared to more favourable conditions, and for some traits plastic and predicted evolutionary responses to drought had opposing directions, likely limiting the potential for adaptive change. Our study contributes to a more detailed understanding of the evolutionary potential of species with different adaptive strategies in response to climate change and may help to inform future scenarios for semi‐natural grassland ecosystems

Data from: Rapid evolution in native plants cultivated for ecological restoration: not a general pattern

The growing number of restoration projects worldwide increases the demand for seed material of native species. To meet this demand, seeds are often produced through large‐scale cultivation on specialized farms, using wild‐collected seeds as the original sources. However, during cultivation plants experience novel environmental conditions compared to those in natural populations, and there is a danger that the plants in cultivation are subject to unintended selection and lose their adaptation to natural habitats. Although the propagation methods are usually designed to maintain as much natural genetic diversity as possible, the effectiveness of these measures have never been tested. We obtained seeds of five common grassland species from one of the largest native seed producers in Germany. For each species, the seeds were from multiple generations of seed production. We used AFLP markers and a common garden experiment to test for genetic and phenotypic changes during cultivation of these plants. The molecular markers detected significant evolutionary changes in three out of the five species, and we found significant phenotypic changes in two species. The only species that showed substantial genetic and phenotypic changes was the short‐lived and predominantly selfing Medicago lupulina, where in the other, mostly perennial and outcrossing species, the observed changes were mostly minor. Agricultural propagation of native seed materials for restoration can cause evolutionary changes, at least in some species. We recommend caution particularly in selfing and short‐lived species, where evolution may happen faster and effects may thus be more severe