A Recurrent Pathogenic Variant in TPM2 Reveals Further Phenotypic and Genetic Heterogeneity in Multiple Pterygium Syndrome-Related Disorders.

Multiple pterygium syndrome (MPS) disorders are a phenotypically and genetically heterogeneous group of conditions characterised by multiple joint contractures (arthrogryposis), pterygia (joint webbing) and other developmental defects. MPS is most frequently inherited in an autosomal recessive fashion but X-linked and autosomal dominant forms also occur. Advances in genomic technologies have identified many genetic causes of MPS-related disorders and genetic diagnosis requires large targeted next generation sequencing gene panels or genome-wide sequencing approaches. Using the Illumina TruSightOne clinical exome assay we identified a recurrent heterozygous missense substitution in TPM2 (encoding beta tropomyosin) in three unrelated individuals. This was confirmed to have arisen as a de novo event in the two patients with parental samples. TPM2 mutations have previously been described in association with a variety of dominantly inherited neuromuscular phenotypes including nemaline myopathy, congenital fibre-type disproportion, distal arthrogryposis and trismus pseudocamptodactyly, and in a patient with autosomal recessive Escobar syndrome and a nemaline myopathy. The three cases reported here had overlapping but variable features. Our findings expand the range of TMP2-related phenotypes and indicate that de novo TMP2 mutations should be considered in isolated cases of MPS-related conditions. This article is protected by copyright. All rights reserved

Extensions of tempered representations

Let $\pi, \pi'$ be irreducible tempered representations of an affine Hecke algebra H with positive parameters. We compute the higher extension groups $Ext_H^n (\pi,\pi')$ explicitly in terms of the representations of analytic R-groups corresponding to $\pi$ and $\pi'$. The result has immediate applications to the computation of the Euler-Poincar\'e pairing $EP(\pi,\pi')$, the alternating sum of the dimensions of the Ext-groups. The resulting formula for $EP(\pi,\pi')$ is equal to Arthur's formula for the elliptic pairing of tempered characters in the setting of reductive p-adic groups. Our proof applies equally well to affine Hecke algebras and to reductive groups over non-archimedean local fields of arbitrary characteristic. This sheds new light on the formula of Arthur and gives a new proof of Kazhdan's orthogonality conjecture for the Euler-Poincar\'e pairing of admissible characters.Comment: This paper grew out of "A formula of Arthur and affine Hecke algebras" (arXiv:1011.0679). In the second version some minor points were improve

Reporting on health-related research in two prestigious Brazilian newspapers

OBJECTIVES: The dissemination of health-related news through newspapers can influence the behavior of patients and of health care providers. We conducted a study to analyze the characteristics of health-related research published by two leading Brazilian newspapers. METHOD: We retrospectively evaluated health-related news published in the electronic versions of the newspapers Folha de São Paulo and O Estado de São Paulo over a period of three months (July through September, 2009). Only articles mentioning medical research were included. The articles were categorized according to topic, source, study location and the nature of the headline. We also analyzed the presence of background information on the topic, citations of medical periodicals, national contextualization and references to products or companies. RESULTS: Scientific research articles corresponded to 57% and 20% of health-related articles published by Folha de São Paulo and O Estado de São Paulo, respectively. Folha de São Paulo published significantly more articles about national studies, and most articles were written by its own staff. In contrast, most articles in O Estado de São Paulo came from news agencies. Folha de São Paulo also better contextualized its reports for Brazilian society. O Estado de São Paulo tended to cite the name of the periodical in which the study was published more frequently, but their articles lacked national contextualization. CONCLUSION: The results showed a significant difference in the way in which the studied newspapers report on health-related research. Folha de São Paulo tends to write its own articles and more frequently publishes the results of national research, whereas O Estado de São Paulo publishes articles that originate in news agencies, most of which have little national contextualization

Reporting on health-related research in two prestigious Brazilian newspapers

OBJECTIVES: The dissemination of health-related news through newspapers can influence the behavior of patients and of health care providers. We conducted a study to analyze the characteristics of health-related research published by two leading Brazilian newspapers. METHOD: We retrospectively evaluated health-related news published in the electronic versions of the newspapers Folha de São Paulo and O Estado de São Paulo over a period of three months (July through September, 2009). Only articles mentioning medical research were included. The articles were categorized according to topic, source, study location and the nature of the headline. We also analyzed the presence of background information on the topic, citations of medical periodicals, national contextualization and references to products or companies. RESULTS: Scientific research articles corresponded to 57% and 20% of health-related articles published by Folha de São Paulo and O Estado de São Paulo, respectively. Folha de São Paulo published significantly more articles about national studies, and most articles were written by its own staff. In contrast, most articles in O Estado de São Paulo came from news agencies. Folha de São Paulo also better contextualized its reports for Brazilian society. O Estado de São Paulo tended to cite the name of the periodical in which the study was published more frequently, but their articles lacked national contextualization. CONCLUSION: The results showed a significant difference in the way in which the studied newspapers report on health-related research. Folha de São Paulo tends to write its own articles and more frequently publishes the results of national research, whereas O Estado de São Paulo publishes articles that originate in news agencies, most of which have little national contextualization

Variation in particulate C : N : P stoichiometry across the Lake Erie watershed from tributaries to its outflow

© 2017 The Authors Limnology and Oceanography published by Wiley Periodicals, Inc. on behalf of Association for the Sciences of Limnology and Oceanography Human activities can cause large alterations in biogeochemical cycles of key nutrients such as carbon (C), nitrogen (N), and phosphorus (P). However, relatively little is known about how these changes alter the proportional fluxes of these elements across ecosystem boundaries from rivers to lakes. Here, we examined environmental factors influencing spatial and temporal variation in particulate C : N : P ratios across the Lake Erie watershed from its tributaries to its outflow. Throughout the study, particulate nutrient ratios ranged widely (C : N 2.0–25.8, C : P 32–530, N : P 3.7–122.9), but mean values were generally lower than previous estimates from different aquatic environments. Particulate C : N ratios varied the least across all environments, but C : P and N : P ratios increased between tributaries and coastal areas and throughout the growing season in coastal environments. These ratios also differed temporally in offshore waters as particulate C : P and N : P were higher in the spring and summer and lower in the fall and winter. Particulate C : P ratios also increased between the western/central and eastern basins indicating differential nutrient processing across the lake. These stoichiometric changes were associated with unique environmental factors among ecosystems as tributary stoichiometry was related to terrestrial land use and land cover, coastal ratios were a product of mixing between riverine and offshore waters, and offshore patterns were influenced by differences in temperature and particulate nutrient loading among basins. Overall, by studying changes in particulate C : N : P ratios across the Lake Erie watershed, our study demonstrates the power of using mass balance principles to study nutrient transformations along the aquatic continuum

Measurement of methylamines in seawater using solid phase microextraction and gas chromatography

The methylamines form part of the marine organic nitrogen pool. Although they are ubiquitous in marine systems, little is known about their distribution, production and fate in the marine environment. Analytical methods have been developed for their analysis in marine waters, but these have employed custom-made apparatus, limiting data to a few studies. Here, we report a method developed for the determination of methylamines in seawater which combines headspace solid phase micro-extraction (SPME) and gas chromatography with selective nitrogen detection. Gaseous methylamines were pre-concentrated from water samples (approximately 1 L) at elevated temperature, onto a polydimethylsiloxane/divinylbenzene SPME fibre. The analytes were then thermally desorbed from the fibre in a gas chromatograph containing a CP-Volamine column and a nitrogen-phosphorus detector. The method was routinely calibrated down to 1 nM for all three analytes using matrix-matched external standards. Limits of detection were determined operationally and ranged from 0.4-2.9 nM during two sampling campaigns. The analytes were detected in seawater samples from the English Channel and Southern Ocean where concentrations up to 20 and 5.6 nM were measured, respectively, consistent with previously reported levels. We propose this method for the analysis of methylamines, and other low molecular weight amines, as it is sensitive, robust, and the necessary equipment is widely-available

Sammelrezension aktueller Literatur

Rezension zu: 1) Annen, Silvia: Anerkennung von Kompetenzen - Kriterienorientierte Analyse ausgewählter Verfahren in Europa. Bielefeld: W. Bertelsmann Verlag 2012. Schriftenreihe des Bundesinstituts für Berufsbildung Bonn. ISBN 978-3-7639-1151-6. 2) Elke Gruber, Gisela Wiesner (Hg.): Erwachsenenpädagogische Kompetenzen stärken - Kompetenzbilanzierung für Weiterbildner/innen. Bielefeld: W. Bertelsmann Verlag 2012. ISBN 978-3-7639-4908-3. 3) Rolf Arnold: Systemische Erwachsenenbildung - die transformierende Kraft des begleiteten Selbstlernens. Baltmannsweiler: Schneider Verlag Hohengehren 2013. Schriftenreihe Systhemia - Systemische Pädagogik, Bd. 10. ISBN 978-3-8340-1210-4. 4) Matthias Herrle: Ermöglichung pädagogischer Interaktionen - Disponibilitätsmanagement in Veranstaltungen der Erwachsenen-/Weiterbildung. Wiesbaden: Springer VS 2013. ISBN 978-3-531-18632-0. 5) Katrin Kaufmann: Informelles Lernen im Spiegel des Weiterbildungsmonitorings. Wiesbaden: Springer VS 2012. ISBN 978-3-531-19384-7. 6) Hans-Christoph Koller, Roland Reichenbach, Norbert Ricken (Hg.): Philosophie des Lehrens. Paderborn: Ferdinand Schöningh Verlag 2012. Schriftenreihe der Kommission Bildungs- und Erziehungsphilosophie in der Deutschen Gesellschaft für Erziehungswissenschaft. ISBN 978-3-506-77587-0. 7) Bernhard Leipold: Lebenslanges Lernen und Bildung im Alter. Stuttgart: Kohlhammer Verlag 2012. Grundriss Gerontologie, Bd. 9. ISBN 978-3-17-017583-9. 8) Joachim Ludwig (Hg.): Lernen und Lernberatung - Alphabetisierung als Herausforderung für die Erwachsenendidaktik. Bielefeld: W. Bertelsmann Verlag 2012. Reihe: Theorie und Praxis der Erwachsenenbildung. ISBN 978-3-7639-5067-6. 9) Nadja Miersch: Anspruch und Wirklichkeit wissenschaftlicher Weiterbildung an öffentlichen Hochschulen - Implementierung einer Qualitätspolitik. Hamburg: Verlag Dr. Kovac 2012. Schriftenreihe Lehre & Forschung, Bd. 15. ISBN 978-3-8300-6638-5. 10) Elke Heidrun Schmidt: Altersbilder in der Erwachsenenbildung - Ältere Menschen im Spiegel westdeutscher Volkshochschulprogramme: Längsschnittuntersuchungen 1950-2000. Hamburg: Verlag Dr. Kovac 2013. Schriftenreihe Studien zur Erwachsenenbildung, Bd. 36. ISBN 978-3-8300-6725-2. 11) Hildegard Schröteler-von Brandt, Thomas Coelen, Andreas Zeising, Angela Ziesche (Hg.): Raum für Bildung - Ästhetik und Architektur von Lern- und Lebensorten. Bielefeld: transcript Verlag 2012. ISBN 978-3-8376-2205-8

Aging of marine organic matter during cross-shelf lateral transport in the Benguela upwelling system revealed by compound-specific radiocarbon dating

Author Posting. © American Geophysical Union, 2007. This article is posted here by permission of American Geophysical Union for personal use, not for redistribution. The definitive version was published in Geochemistry Geophysics Geosystems 8 (2007): Q09004, doi:10.1029/2007GC001603.Organic matter accumulation and burial on the Namibian shelf and upper slope are spatially heterogeneous and strongly controlled by lateral transport in subsurface nepheloid layers. Much of the material deposited in depo-centers on the slope ultimately derives from the shelf. Supply of organic matter from the shelf involves selective transport of organic matter. We studied these selective transport processes by analyzing the radiocarbon content of co-occurring sediment fractions. Here we present radiocarbon data for total organic carbon as well as three tracers of surface ocean productivity (phytoplankton-derived alkenones, membrane lipids of pelagic crenarchaeota (crenarchaeol), and calcareous microfossils of planktic foraminifera) in core-top and near-surface sediment samples. The samples were collected on the Namibian margin along a shelf-slope transect (85 to 1040 m) at 24°S and from the upper slope depo-center at 25.5°S. In core-top sediments, alkenone ages gradually increased from modern to 3490 radiocarbon years with distance from shore and with water depth. Crenarchaeol, while younger than alkenones, also increased in age with distance offshore. It was concluded that the observed ages were a consequence of cross-shelf transport and associated aging of organic matter. Radiocarbon ages of preserved lipid biomarkers in sediments thus at least partially depend on the relative amount of laterally supplied, pre-aged material present in a sample, highlighting the importance of nepheloid transport for the sedimentation of organic matter over the Namibian margin.This work was funded by NSF grant OCE- 0327405 to T.I.E. and by a Spinoza grant to J.S.S.D. from NWO

The Fourteenth Data Release of the Sloan Digital Sky Survey: First Spectroscopic Data from the extended Baryon Oscillation Spectroscopic Survey and from the second phase of the Apache Point Observatory Galactic Evolution Experiment

The fourth generation of the Sloan Digital Sky Survey (SDSS-IV) has been in operation since July 2014. This paper describes the second data release from this phase, and the fourteenth from SDSS overall (making this, Data Release Fourteen or DR14). This release makes public data taken by SDSS-IV in its first two years of operation (July 2014-2016). Like all previous SDSS releases, DR14 is cumulative, including the most recent reductions and calibrations of all data taken by SDSS since the first phase began operations in 2000. New in DR14 is the first public release of data from the extended Baryon Oscillation Spectroscopic Survey (eBOSS); the first data from the second phase of the Apache Point Observatory (APO) Galactic Evolution Experiment (APOGEE-2), including stellar parameter estimates from an innovative data driven machine learning algorithm known as "The Cannon"; and almost twice as many data cubes from the Mapping Nearby Galaxies at APO (MaNGA) survey as were in the previous release (N = 2812 in total). This paper describes the location and format of the publicly available data from SDSS-IV surveys. We provide references to the important technical papers describing how these data have been taken (both targeting and observation details) and processed for scientific use. The SDSS website (www.sdss.org) has been updated for this release, and provides links to data downloads, as well as tutorials and examples of data use. SDSS-IV is planning to continue to collect astronomical data until 2020, and will be followed by SDSS-V.Comment: SDSS-IV collaboration alphabetical author data release paper. DR14 happened on 31st July 2017. 19 pages, 5 figures. Accepted by ApJS on 28th Nov 2017 (this is the "post-print" and "post-proofs" version; minor corrections only from v1, and most of errors found in proofs corrected

Aspergillus as a multi-purpose cell factory: current status and perspectives

Aspergilli have a long history in biotechnology as expression platforms for the production of food ingredients, pharmaceuticals and enzymes. The achievements made during the last years, however, have the potential to revolutionize Aspergillus biotechnology and to assure Aspergillus a dominant place among microbial cell factories. This mini-review will highlight most recent breakthroughs in fundamental and applied Aspergillus research with a focus on new molecular tools, techniques and products. New trends and concepts related to Aspergillus genomics and systems biology will be discussed as well as the challenges that have to be met to integrate omics data with metabolic engineering attempts